Glossary for Infection

Medical terms related to Infection or mentioned in this section include:

• $22q11.2 deletion syndrome$: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• ADULT syndrome: A rare syndrome characterized by nail abnormalities, abnormal teeth development, tear duct obstruction, pigmentation anomalies and hand and foot abnormalities.
• AIDS: A term given to HIV patients who have a low CD4 count (below 200) which means that they have low levels of a type of immune cell called T-cells. AIDS patients tend to develop opportunistic infections and cancers. Opportunistic infections are infections that would not normally affect a person with a healthy immune system. The HIV virus is a virus that attacks the body's immune system.
• ARTS syndrome: A rare lethal syndrome characterized by deafness, optic atrophy and ataxia.
• Acanthocytosis: A rare disorder where most of the red blood cells are abnormal with spiny projections due to lipid abnormalities. The blood abnormality is seen in conditions such as abetalipoproteinemia, severe liver disease and severe malnutrition. Symptoms and prognosis depend on the underlying disorder.
• Acute adult T-Cell leukemia: A form of blood cancer affecting the T-cells which make up the body's immune system. The disease is caused by the HTLV-1 virus (human T-cell leukemia virus) which causes the proliferation of abnormal T-cells. The virus can be transmitted sexually and may lay dormant for decades. There are four subtypes: acute, chronic, lymphoma and smoldering. The acute and lymphoma subtypes have the poorest prognosis. The acute subtype tends to progress rapidly and is the most prevalent form of the condition.
• Acute erythroleukemia: A rare condition characterized by the presence of abnormal blood cells (erythroblastic precursors) in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form has more severe symptoms than the chronic form.
• Acute fatty liver of pregnancy: A rare complication of pregnancy that can occur in the second half of the pregnancy. It is characterized by excessive fatty deposits in the liver which can be fatal without prompt diagnosis and treatment which involves delivering the baby as soon as possible.
• Acute infections: An infection that occurs acutely
• Adenine phosphoribosyltransferase deficiency: A rare genetic disorder where an enzyme (2, 8-dihydroxyadenine) deficiency results in urinary tract stone formation.
• Adult T-Cell leukemia: A form of blood cancer affecting the T-cells which make up the body's immune system. The disease is caused by the HTLV-1 virus (human T-cell leukemia virus) which causes the proliferation of abnormal T-cells. The virus can be transmitted sexually and may lay dormant for decades. There are four subtypes: acute, chronic, lymphoma and smoldering. The acute and lymphoma subtypes have the poorest prognosis.
• Adult T-Cell lymphoma: A form of blood cancer affecting the T-cells which make up the body's immune system. The disease is caused by the HTLV-1 virus (human T-cell leukemia virus) which causes the proliferation of abnormal T-cells. The virus can be transmitted sexually and may lay dormant for decades. There are four subtypes: acute, chronic, lymphoma and smoldering. The acute and lymphoma subtypes have the poorest prognosis. The lymphoma subtype is aggressive and tends to affect the lymph nodes more than the blood.
• Agammaglobulinemias, Primary: A group of inherited conditions characterized by a defective immune system.
• Agranulocytosis: Extremely low level of white blood cells (basophils, eosinophils and neutrophils).
• Alopecia immunodeficiency: A rare syndrome characterized by alopecia and primary immunodeficiency.
• Alzheimer disease 10: An inherited form of Alzheimer's. Type 10 is caused by a genetic defect on chromosome 10p13.
• Alzheimer disease 12: An inherited form of Alzheimer's. Type 12 is caused by a genetic defect on chromosome 8p12-q22.
• Alzheimer disease 13: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 14: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q25. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 15: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 3q22-q24. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 16: Alzheimer disease 16 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome Xq21.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 2, late-onset: Alzheimer disease 2 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome 19q13.2. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 3, (early-onset Alzheimer disease): Alzheimer disease 3 is an early-onset form of Alzheimer's disease that is linked to a defect on chromosome 14q24.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 5: An inherited form of Alzheimer's. Type 5 has a late onset and is caused by a genetic defect on chromosome 12p11.
• Alzheimer disease 6: A genetic form of Alzheimer's. Type 6 has a late onset and is caused by a genetic defect on chromosome 10q24.
• Alzheimer disease 7: An inherited form of Alzheimer's. Type 7 is caused by a genetic defect on chromosome 10p13.
• Alzheimer disease 8: An inherited form of Alzheimer's. Type 8 is caused by a genetic defect on chromosome 20p.
• Alzheimer disease 9: A genetic form of Alzheimer's. Type 9 has a late onset and is caused by a genetic defect on chromosome 19p13.2.
• Alzheimer disease, early-onset, with cerebral amyloid angiopathy: An early-onset form of Alzheimer's disease that is linked to a defect on chromosome 21q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 1: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 21q. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 11: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 9p22.1. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 3, with spastic paraparesis and apraxia: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and apraxia. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and unusual plaques in the brain. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 4: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q31-q42. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer's disease: A progressive degenerative disease of the brain of unknown cause
• Andrade's syndrome: An inherited condition characterized by deposits of an abnormal protein called amyloid in various parts of the body including organs. The condition mainly involves neurological symptoms.
• Anorexia Nervosa: A disorder where a distorted sense of body image leads to self-starvation to the point of death in some cases.
• Arcobacter butzleri infection: A bacterial infection that involves bacteria from the Arcobacter genus. It tends to cause gastrointestinal symptoms but may also cause blood infections. The bacteria tends to originate in pigs, cattle, sheep and water.
• Arcobacter cryaerophilus infection: A bacterial infection that involves bacteria from the Arcobacter genus. It tends to cause gastrointestinal symptoms but may also cause blood infections. The bacteria tends to originate in pigs, cattle, sheep and water.
• Arcobacter infection: A bacterial infection that involves bacteria from the Arcobacter genus. It tends to cause gastrointestinal symptoms but may also cause blood infections. The bacteria tends to originate in pigs, cattle, sheep and water.
• Arthritis - short stature - deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
• Arthrogryposis IUGR thoracic dystrophy: A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities.
• Aspergillosis: Infection with a fungus called Aspergillus.
• Atelectasis: is a collapse of lung tissue affecting part or all of one lung
• Atopic dermatitis: Skin disorder characterized by chronic inflammation, and pruritis. Often hereditary and associated with allergic rhinitis and asthma.
• Atopic dermatitis 1: Atopic dermatitis is a skin disorder characterized by chronic inflammation and itching. Dry, red, itchy patches of skin tend to develop most often in the folds of the arms and knees, wrists, face and hands. Atopic dermatitis often runs in a family which means that a genetic anomaly may increase a person's susceptibility to developing the skin condition. Type 1 is linked to a defect on chromosome 3q21. The genetic anomaly means that the patient is more susceptible to developing atopic dermatitis. The condition is often associated with hay fever and asthma.
• Atopic dermatitis 2: Atopic dermatitis is a skin disorder characterized by chronic inflammation and itching. Dry, red, itchy patches of skin tend to develop most often in the folds of the arms and knees, wrists, face and hands. Atopic dermatitis often runs in a family which means that a genetic anomaly may increase a person's susceptibility to developing the skin condition. Type 2 is linked to a defect on chromosome 1q21. The genetic anomaly means that the patient is more susceptible to developing atopic dermatitis. The condition is often associated with hay fever and asthma.
• Atopic dermatitis 3: Atopic dermatitis is a skin disorder characterized by chronic inflammation and itching. Dry, red, itchy patches of skin tend to develop most often in the folds of the arms and knees, wrists, face and hands. Atopic dermatitis often runs in a family which means that a genetic anomaly may increase a person's susceptibility to developing the skin condition. Type 3 is linked to a defect on chromosome 20p. The genetic anomaly means that the patient is more susceptible to developing atopic dermatitis. The condition is often associated with hay fever and asthma.
• Atopic dermatitis 4: Atopic dermatitis is a skin disorder characterized by chronic inflammation and itching. Dry, red, itchy patches of skin tend to develop most often in the folds of the arms and knees, wrists, face and hands. Atopic dermatitis often runs in a family which means that a genetic anomaly may increase a person's susceptibility to developing the skin condition. Type 4 is linked to a defect on chromosome 17q25.3. The genetic anomaly means that the patient is more susceptible to developing atopic dermatitis. The condition is often associated with hay fever and asthma.
• Atopic dermatitis 5: Atopic dermatitis is a skin disorder characterized by chronic inflammation and itching. Dry, red, itchy patches of skin tend to develop most often in the folds of the arms and knees, wrists, face and hands. Atopic dermatitis often runs in a family which means that a genetic anomaly may increase a person's susceptibility to developing the skin condition. Type 5 is linked to a defect on chromosome 13q12-q14. The genetic anomaly means that the patient is more susceptible to developing atopic dermatitis. The condition is often associated with hay fever and asthma.
• Atopic dermatitis 6: Atopic dermatitis is a skin disorder characterized by chronic inflammation and itching. Dry, red, itchy patches of skin tend to develop most often in the folds of the arms and knees, wrists, face and hands. Atopic dermatitis often runs in a family which means that a genetic anomaly may increase a person's susceptibility to developing the skin condition. Type 6 is linked to a defect on chromosome 5q31-q33. The genetic anomaly means that the patient is more susceptible to developing atopic dermatitis. The condition is often associated with hay fever and asthma.
• Atransferrinemia: A rare inherited condition characterized by the absence of a compound called transferring which results in a buildup of iron in the body's tissues as well as anemia.
• Aureobasidium pullulans exposure: Aureobasidium pullulans is a species of fungus which is capable of causing a variety of diseases in humans. The fungus is most often found in damp places either inside the home or in the environment. It is often pinkish or blackish. It is a rare cause of disease and is more likely to occur in immunosuppressed patients. It can cause infection in just about any part of the body depending on the nature of the exposure (inhalation, wound, ingestion etc.) and as such the type and severity of symptoms can vary considerably.
• Autoimmune Lymphoproliferative Syndrome: An inherited autoimmune condition characterized by proliferation of lymphocytes and autoimmunity against the body's own blood cells resulting in premature death of certain blood cells.
• Autosomal Recessive Polycystic Kidney Disease: Severe form of PKD, a genetic kidney disease.
• Autosomal dominant polycystic kidney disease: Genetic kidney disease causing kidney cysts.
• B-cell chronic lymphocytic leukemia: A slow progressing disease involving cancerous B-cell lymphocytes which take over the healthy cells in the lymph nodes. B-cells help the body to fight infections so when the disease becomes more advanced, the body is less able to fight infection as there are fewer healthy, functioning B-cells.
• BEEC: A rare syndrome characterized by a birth defect where the bladder is inside out and protrudes from the lower abdominal wall. The urethra and genitals are also abnormally formed. The degree of malformation is variable.
• Benign Prostate Hyperplasia: Non-cancerous prostrate enlargement common with aging
• Biotin deficiency: Vitamin H deficiency
• Bladder diverticulum: A defect where a part of the bladder lining forms a pouch in the muscle wall of the bladder. The defect may be congenital or acquired through conditions such as infection and urinary tract obstruction. The size of the diverticulum will determine the severity of the disorder with mild cases being asymptomatic.
• Blood infection:
• Blue Diaper Syndrome: A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies.
• Bluefarb-Stewart syndrome: A rare disorder where blood vessel defects in a limb causes skin lesions. It most often occurs in one leg. The blood vessel defects involves abnormal connections between arteries and veins.
• Bone Marrow Conditions: Medical conditions affecting the bone marrow
• Bristleworm poisoning: Bristleworms are a type of marine worm covered in bristles which they can use to sting. The bristles are strong enough to break human skin and cause symptoms.
• Bullous pemphigoid: An autoimmune disease characterized by chronic itchy blistering of the skin. Also called pemphigoid.
• Bébé Collodion syndrome: A rare birth abnormality where an infant is born covered in a tight, yellow, shiny membrane. The membrane peels off and may reform several times. As the membrane dries it can leave crack which can result in infection, dehydration or inability to control body temperature. The tight skin can also affect breathing and feeding ability or impair blood supply to limbs. In mild cases the underlying skin may be normal. 10% of cases resolve themselves within a few weeks of birth.
• CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
• Campylobacter fetus infection: Campylobacter fetus is a food borne bacterial infection which may vary in severity from mild to severe. The bacteria are opportunistic and mainly affect debilitated patients but can also occur in healthy patients. Abortion due to blood infection in the fetus can occur in pregnant women who become infected. The infection is less likely to cause gastrointestinal symptoms such as diarrhea than other Campylobacter infections but is prone to causing infection in other parts of the body such as the appendix, abdominal cavity, central nervous system (meningitis), gallbladder, urinary tract and blood stream. Cattle and sheep are the main source of this bacteria.
• Campylobacter jejuni infection: Campylobacter jejuni infection is a common food borne bacterial infection which may vary in severity from mild to severe. Death can occur in severe cases but tends to occur in patients with other existing illnesses such as HIV, cancer or liver disease. The infection can in rare cause infection in other parts of the body such as the appendix, abdominal cavity, central nervous system (meningitis), gallbladder, urinary tract and blood stream. Undercooked chicken is the main source of infection.
• Candidiasis: Fungal infection of moist areas such as mouth or vagina
• Century Plant poisoning: The Century Plant contains calcium oxalate crystals which can cause abrasive injuries to the eyes or mucosal linings. It can also cause skin inflammation. The sap is the most toxic part of the plant all though other parts such as the thorns can also cause symptoms.
• Chediak-Higashi Syndrome: An inherited immune system disorder resulting in frequent infections, lack of skin and eye pigmentation, neurological diseases and early death.
• Chemical poisoning - Acrylic acid: Acrylic acid is a chemical used mainly in the production of resins and acrylic acids which are usually used in adhesives and coatings. It is also used in water treatment and in the production of plastics and detergents. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Radium: Radium is a chemical used mainly as an anti-cancer agent . Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical-related eczema: Chemical-related eczema is a form of eczema that results from exposure to a chemical. Eczema is a type of skin inflammation or irritation that manifests as a skin rash. The amount of skin involved may vary considerable from a single small patch to widespread large areas of the body. The eczema may result from irritation due to the chemical or from an allergic response to the chemical.
• Cholestatic jaundice -renal tubular insufficiency: A very rare syndrome characterized by liver and kidney problems.
• Chrome contact allergy: Chrome contact allergy usually refers to an allergic response to chromium salts which are found in a wide range of products such as leather, paint and cement. Sensitization usually occurs in a workplace settings.
• Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• Chromosome 7, monosomy 7q3: A very rare chromosomal disorder involving a deletion of material from chromosome 7 at a location known as q3 which results in a wide range of abnormalities.
• Chronic Granulomatous Disease: A very rare inherited blood disorder where certain cells involved with immunity (phagocytes) are unable to destroy bacteria and hence the patient suffers repeated bacterial infections.
• Chronic adult T-Cell leukemia: A form of blood cancer affecting the T-cells which make up the body's immune system. The disease is caused by the HTLV-1 virus (human T-cell leukemia virus) which causes the proliferation of abnormal T-cells. The virus can be transmitted sexually and may lay dormant for decades. There are four subtypes: acute, chronic, lymphoma and smoldering. The acute and lymphoma subtypes have the poorest prognosis. The acute form tends to progress relatively slowly and generally responds better to treatment than the other subtypes.
• Chronic infections: Ongoing and often slow progressing infection; opposite to acute infections.
• Chronic myelogenous leukemia: A slow-growing cancer of the white blood cells where the bone marrow makes too many white blood cells which eventually invade various parts of the body.
• Chronic myelomonocytic leukemia: A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of certain blood cells - myelocytes and monocytes. The proliferation is slower than in acute forms of the disease.
• Chronic neutropenia: A blood disorder characterized by a reduced number of neutrophils (type of white blood cell) which affects the body's ability to fight infection.
• Chrysanthemum poisoning: Contact with Chrysanthemum plants can cause a variety of skin symptoms in susceptible people. Repeated exposure increases the risk of developing symptoms.
• Cobalt allergy: Cobalt chloride allergy usually refers to an allergic response to cobalt which is found in things such as belt buckles, buttons, zips and wet cement. Symptoms usually occur when the article comes into contact with the skin and hence usually results in skin symptoms. Exposure to cobalt can also occur in an occupational setting.
• Common Variable Immunodeficiency: An immunodeficiency disorder involving low blood gamma globulin levels which results in an increased susceptibility to infections. The condition may be inherited or can be caused by certain drugs (levamisole, hydantoin and carbamazepine).
• Complement component 2 deficiency: A rare disorder where a deficiency of a compound called complement component 2 impairs the bodies ability to fight infection and autoimmune disorders.
• Complement component deficiency: Complement components are a part of the immune defense system involved in destroying and removing invading pathogens such as bacteria. A deficiency of the complement components can affect the ability of the body's immune system to function properly. The disorder which can be partial or complete and may be inherited or acquired. The severity of the symptoms is determined by which complement component (there are at least 30 of them) is deficient and whether the deficiency is partial or complete.
• Complement receptor deficiency: Complement receptors are a part of the immune defense system and they initiate the process of destroying and removing invading pathogens. A deficiency of complement receptors thus affects the immune system. It may be inherited or be associated with autoimmune disorders such as systemic lupus erythematosus diabetic nephropathy patients on hemodialysis.
• Congenital disorder of glycosylation type 2E: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2e is caused by a defect on chromosome 16p and involves a defect in the gene for oligomeric complex-7.
• Congenital giant megaureter: A rare condition where the patient is born with an abnormally dilated ureter. The anomaly is often associated with other defects or anomalies. The severity of the anomaly is variable.
• Congenital megalo-ureter: A birth defect where the ureter is abnormally dilated due to a structural obstruction of the end portion of the ureter.
• Craniofacial dysostosis - arthrogryposis - progeroid appearence: A very rare syndrome characterized usually caused by fetal exposure to the cytomegalovirus and resulting in features such as short stature, mental retardation, joint movement problems and facial anomalies.
• Creutzfeldt-Jakob Disease: A very rare degenerative brain disease that can be inherited, transmitted (eg in surgical transplants using infected tissue) or as a result of genetic mutations. The condition is fatal.
• Crohn's disease: Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. The disease can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum.
• Cyclic neutropenia: A rare blood disorder characterized by recurrent periods of extremely low blood levels of neutrophils which results in frequent infections. The low level usually occurs for about 7 days every 21 days. Levels of other blood components may also be affected.
• Cystinuria: A rare inherited condition characterized by the abnormal transport of various amino acids (cystine, lysine, arginine, ornithine) resulting in excess amounts in the urinary system where it can form stones.
• Davenport-Donlan syndrome: A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas.
• De Lange 1: A rare disorder involving a variety of congenital abnormalities including retarded growth, behavioral problems, characteristic facial features and upper limb abnormalities.
• DiGeorge's syndrome: Rare form of primary immune deficiency
• Diabetes-like symptoms: Symptoms similar to those of diabetes
• Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency: A rare condition (described in one patient) characterized by severe diarrhea and immunodeficiency.
• Digestive duplication: Duplication of a part of the digestive system. Duplication of the anal canal is the least common where as duplication of the Symptoms vary depending on what part of the digestive system is duplicated.
• Dionisi-Vici-Sabetta-Gambarara syndrome: A very rare syndrome characterized mainly by brain abnormality, cataract and immunodeficiency.
• Discoid eczema: Discoid eczema is a common form of skin inflammation and irritation characterized by its round or oval shape. The size of the lesions may vary from a few millimetres to centimetres across. The cause is unknown but minor injuries such as insect bites may be triggers. The lesions tend to occur most often on the limbs.
• Disseminated infection with mycobacterium avium complex: Mycobacterium avium complex is an opportunistic bacterium which tends to occur mainly in patients with advanced AIDS. The infection can spread throughout the body and result in such things as blood infections.
• Down's Syndrome associated Alzheimer's disease: Early-onset Alzheimer's is more prevalent in Down's Syndrome sufferers than in the general population. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Dyshidrotic dermatitis: A skin disorder (eczema) that affects the soles of the feet, the palms of the hands and the sides of the fingers. There is no known cause but contributing factors include stress, hot or cold weather, pre-existing atopic condition, metal implants, smoking, and aspirin and oral contraceptive use.
• Early-onset Alzheimer's: Early-onset Alzheimer's is a form of Alzheimer's disease that is linked to genetic defects or occurs in a familial pattern. It is not as common as the non-inherited form of Alzheimer's - occurs in up to 90% of Alzheimer sufferers. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Eating symptoms: Symptoms related to eating.
• Ectodermal dysplasia: A group of rare inherited conditions which affect the ectodermal skin layer which includes the skin, hair, teeth and nails.
• Ectodermal dysplasia - mental retardation - central nervous system malformation: A rare syndrome characterized by severe mental retardation, hypothyroidism, abnormal brain development and hair, teeth and nail abnormalities.
• Ectodermal dysplasia, anhidrotic with T-cell immunodeficiency, autosomal dominant: An inherited disorder characterized by dry, rough skin, sparse scalp hair, cone-shaped teeth and an immune system disorder.
• Ectodermal dysplasia, hypohidrotic, with immune deficiency: A rare genetic disorder characterized inability to sweat, immune system problems and hair and teeth abnormalities.
• Eczema: Skin rash usually from allergic causes.
• Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
• Environmental allergen related eczema: Environmental allergen related eczema is a form of eczema that results from exposure to an environmental allergen such as moulds, pollens or dust mite. Environmental allergens are more likely to cause allergic conditions such as hay fever and asthma but can cause eczema in some cases or exacerbate pre-existing cases. Eczema is a type of skin inflammation or irritation that manifests as a skin rash. The amount of skin involved may vary considerable from a single small patch to widespread across large areas of the body.
• Eosinophilic fasciitis: A rare disorder where the skin on the limbs become painfully inflamed and looses it's elasticity.
• Epidermolysis bullosa: A group of rare inherited skin diseases characterized by fragile skin which forms blisters with even minor injuries. The blisters can be painful and can occur anywhere on the skin and even inside the digestive tract.
• Epidermolysis bullosa intraepidermic: A rare inherited skin disorder characterized by separation of the layers within the skin which results in fragile, blistered skin. The blisters usually heal without scarring and the skin that is most often placed under trauma (feet and hands) is the most affected.
• Epidermolysis bullosa simplex with mottled pigmentation: A variant of a skin blistering disease which also involved a skin pigmentation anomaly.
• Epidermolysis bullosa with pyloric atresia: A rare inherited blistering skin disorder which also involves a defect where the digestive system is closed off in the pyloric area. Death generally occurs even if the defect is corrected.
• Epidermolysis bullosa, dermolytic: A rare genetic syndrome characterized by fragile skin which blisters easily due to defective skin collagen. The mucosal lining of the mouth and even intestines may be effected in severe cases.
• Epidermolysis bullosa, generalized atrophic benign: A rare inherited skin disorder characterized by fragile skin which blisters easily and often results in scars after healing. The condition is generally quite mild compared to other skin disorders involving fragile blistering skin.
• Epispadias: Is a congenital abnormality of the location of the opening of the urethra
• Erythema: Skin redness caused by congestion of capillaries such as in blushing.
• Erythrodermic eczema: Erythrodermic eczema is a severe condition that results from worsening eczema.
• Eschar: The slough that may be produced by a thermal burn
• Familial Forms of Alzheimer's Disease: Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour. Familial forms of the disease tend to run in families and are linked to mutations on various genes. Chromosome 1, 14 19 and 21 are the main chromosomes where mutations resulting in Alzheimer's are located..
• Focal segmental glomerulosclerosis: A rare kidney disorder involving scarring of parts of the kidney filtering system which affects kidney function. It usually occurs for no apparent reason but can result from kidney damage caused by illicit drug use, certain viral infections and HIV.
• Follicular dendritic cell tumor: A rare form of malignant tumor. Follicular dendritic cells are immune system cells found in lymph follicles. The tumor tends to be low grade and tends to reoccur after removal and occasionally metastasizes. The symptoms are determined by the location and size of the tumor. The tumor can occur on various parts of the body such as lymph nodes, tonsils, armpits and mediastinum but is most common in the neck lymph nodes.
• Fungemia: The presence of fungi in the blood. Most commonly occurs in people with a compromised immune system. Other risk factors include dialysis, burns, diabetes and use of broad-spectrum antibiotics and steroids. The severity of symptoms is variable.
• Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3.
• Gaucher disease type 1: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 1 is the visceral, chronic form which usually starts during adulthood.
• Gaucher disease type 2: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 2 is acute neurological form apparent in infancy.
• Gaucher disease type 3: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 3 is a subacute neurological form which often first appears in childhood.
• Glanders: An infectious disease caused by a bacterium (Burkholderia mallei). It is usually a disease that affects horses and mules but can also infect other animals and humans. Human infection usually occurs in laboratory settings or in those with prolonged contact with infected animals. Symptoms are determined by whether infection occurs through the skin or via the lungs or blood stream. Bloodstream infections are the most severe and usually result in death within weeks.
• Gravitational eczema: Gravitational eczema is a chronic skin condition that affects the lower legs and is caused by problems with the veins in the legs e.g. blood clots or varicose veins.
• Group A Streptococcal Infections: "Strep" bacteria responsible for strep throat, impetigo and some other strep conditions.
• Gräsbeck-Imerslund disease: A rare genetic blood disorder where a defect in the vitamin B12 receptor means that it can't be absorbed from food during digestion. As a result of the low vitamin B12 levels, the body produces increased numbers of abnormal enlarged red blood cells (megaloblasts).
• HIV/AIDS: HIV is a sexually transmitted virus and AIDS is the progressive immune failure that HIV causes.
• Hand eczema: Hand eczema is characterized by inflammation and irritation of the skin on the hands. It is usually the result of frequent hand contact with an irritating substance such as dishwashing detergent. Hand eczema tends to occur more often in patients who have a history of atopic eczema.
• Hand-Schüller-Christian Syndrome: A group of blood disorder involving excess production of histiocytes (type of immune cell) throughout the body. Accumulation of histiocytes results in non-cancerous growths which can damage organs and other body tissues such as bones. Symptom vary hugely and depend on location and size of tumor growths.
• Hemophagocytic reticulosis: The abnormal proliferation of reticulum cell (histiocytes) which infiltrate various organs and. Macrophages destroy blood cells causing blood abnormalities. Meningoencephalitis frequently occurs when the histiocytes infiltrate the mininges and cerebral tissue. Symptoms start at birth or soon after and become progressively worse without treatment. Medication can control the condition but a hematopoietic stem cell transplant is needed to achieve remission.
• Hepatic Venoocclusive Disease with immunodeficiency: An inherited disorder characterized by the association of immunodeficiency and liver disease involving the blockage of small veins in the liver due to swelling and fibrosis.
• Hermansky-Pudlak syndrome type 2: A rare disorder characterized by various degrees of albinism, bleeding due to a platelet defect, an accumulation of a waxy substance in cells (lysosomal ceroid storage) and immunodeficiency. HPS type 2 differs from type 1 in that it also involves immunodeficiency due to congenital neutropenia.
• Heterotopia, periventricular, autosomal recessive: A rare, recessively inherited developmental brain abnormality. Type 2 is caused by a defect on chromosome 20q13.13.
• High white cell count: A raised white cell count
• Hip Replacement: The replacement of a hip with an synthetic joint
• Hobo spider poisoning: The Hobo spider is a type of funnel web spider which can deliver a painful bite. Their bite can cause localized tissue necrosis which can take a long time to heal. Systemic symptoms may occur in severe cases but this is rare.
• Holoprosencephaly, recurrent infections, and monocytosis: A rare syndrome characterized by recurring infections and a brain anomaly. Death usually occurs during the first years of life due to sepsis.
• Human bite: Bite from a human
• Hydatidosis: A parasitic infection caused by a tapeworm larva called echinococci. The type and severity of symptoms is determined by the location of the infestation - the most common site for the larval cysts is the liver. The most common symptoms are due to compression of nearby organs or blood vessels due to increasing size of the cyst. The larva may incubate for months or even years.
• Hydronephrosis with Peculiar Facies: A very rare inherited disorder characterized by an unusual face and abnormalities in organs involved with urination.
• Hyper-IgE Syndrome: A condition characterized by an excess of immunoglobulin E
• Hyper-IgM Syndrome: A rare inherited immunodeficiency disorder which causes frequent infections involving the ears, eyes, sinuses, lungs, skin, respiratory tract and other areas of the body.
• Hypercalciuria, childhood idiopathic: A rare disorder occurring in children for no detectable reason where excess calcium is excreted through the urine resulting in the development of stones in the urinary tract.
• ICF syndrome: A very rare, recessively inherited syndrome characterized mainly by a weak immune system and facial anomalies.
• Idiopathic chronic severe neutropenia: A severe form of chronic neutropenia which has no apparent cause. It is diagnosed through a process of excluding all other possible causes.
• Imerslünd-Grasbeck Syndrome: A rare genetic blood disorder where a defect in the vitamin B12 receptor means that it can't be absorbed from food during digestion. As a result of the low vitamin B12 levels, the body produces increased numbers of abnormal enlarged red blood cells (megaloblasts).
• Immune deficiency conditions: Any of various diseases that suppress the immune system.
• Infection: Infections as a symptom.
• Intestinal pseudo-obstruction: A digestive disorder where the intestines are unable to contract normally and push food through the digestive system. This results in symptoms similar to an obstruction and hence the name pseudo-obstruction. The walls of the affected gastrointestinal tract becomes thin and the muscles that control its motion start to degenerate.
• Inverted smile - occult nephropathic bladder: A very rare inherited disorder characterized by an unusual face and abnormalities in organs involved with urination.
• Irritant contact eczema: Irritant contact eczema is a form of eczema that occurs when an irritating substance comes into direct contact with the skin. Eczema is a type of skin inflammation or irritation that manifests as a skin rash. This form of eczema often occurs in occupational settings.
• Juvenile tropical pancreatitis syndrome: A disease that tends occurs in tropical developing countries. It involves calcification and chronic inflammation of the pancreas. The condition tends to affect mainly young people.
• Lamellar ichthyosis: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes.
• Lamellar ichthyosis, autosomal dominant form: A very rare dominantly inherited disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes.
• Lamellar ichthyosis, type 1: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes. Type 1 is distinguished by the location of the genetic defect - chromosome 14q11.2.
• Lamellar ichthyosis, type 2: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes. Type 2 is distinguished by the location of the genetic defect - chromosome 2q34.
• Lamellar ichthyosis, type 3: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal large dark, plate-like scales. Type 3 is distinguished by the location of the genetic defect - chromosome 19p12-q12. This type also affects the ears and face to a greater degree than other types.
• Lamellar ichthyosis, type 5: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes. Type 5 is distinguished by the location of the genetic defect - chromosome 17p13.2-p13.1.
• Langerhans Cell Histiocytosis: A condition which is characterized by proliferation of Langerhans cells
• Large granular lymphocyte leukemia: A form of leukemia characterized by an increased number of circulating granular lymphocytes.
• Late-onset Alzheimer's: Late-onset Alzheimer's is a form of Alzheimer's disease that doesn't appear to be linked to any genetic defects or familial pattern. It is by far the most common form of Alzheimer's - occurs in up to 90% of Alzheimer sufferers. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Leiner Disease: A skin and immune system disorder occurring in newborns and characterized by a patch of thick red skin that usually starts on the buttocks and spreads to other parts of the body. Recurring infections, failure to thrive, wasting and nervous system deficiency are also symptomatic of the condition.
• Leukemia, Myeloid, Chronic: A slow-growing cancer where the bone marrow makes too many myeloid cells (granulocytes and their precursors) in the bone marrow which accumulates in the blood and eventually invades various parts of the body.
• Leukemia, T-Cell: A form of blood cancer characterized by the proliferation of cancerous T-cells which make up part of the body's immune system. The exact symptoms and progression vary depending on the subtype involved.
• Leukemia, T-Cell, Acute: A form of blood cancer characterized by the proliferation of cancerous T-cells which make up part of the body's immune system. The exact symptoms and progression vary depending on the subtype involved. The acute form involves a rapid proliferation of cancerous T-cells and hence a more rapid disease progression and increased severity of symptoms.
• Leukemia, T-cell, chronic: Cancer of blood cells called T-cells which form part of the immune system.
• Leukocyte Adhesion Defect: A rare inherited disorder characterized by abnormal neutrophil functioning which reduces the body's immunity. The abnormal neutrophils are unable to be transported to sites of infection due to their inability to adhere to certain blood vessel components which would normally lead them to the infection site. Infections may be life-threatening as the body is unable to destroy bacteria effectively.
• Lichen simplex chronicus: Lichen simplex chronicus refers to thickened itchy skin that results from persistently rubbing or scratching an area of skin.
• Lissencephaly - immunodeficiency: A very rare syndrome characterized mainly by abnormal brain development and a poor immune system.
• Low White Cells: Low white cells in the blood.
• Low birth weight - dwarfism - dysgammaglobulinemia: A very rare syndrome characterized mainly by low birth weight, short stature and a immune system abnormality.
• Lupus: Autoimmune disease with numerous effects on various organs and linings.
• Lutz-Richner-Landolt syndrome: A rare disorder involving kidney and biliary abnormalities.
• Lyme disease: Lyme disease is an emerging infectious disease caused by at least three species of bacteria belonging to the genus Borrelia.
• Lymphoedema tarda: A rare form of primary lymphedema that occurs in patients over the age of 35 years and usually affects the legs.
• MHC class 1 or class 2 deficiency: An inherited immunodeficiency disorder involving a deficiency of class I and II major histocompatibility complexes. Serious infections can result.
• Mac Duffie's syndrome: A rare syndrome characterized by immune system problems where immune system particles are deposited on amall blood vessel walls
• Malignant Jaundice: Jaundice due to an obstruction or blockage in one of the bile ducts by a tumor. Bile ducts are vessels which carry bile from the liver to the digestive system or gallbladder.
• Megaloblastic Anemia 1: A rare genetic blood disorder where a defect in the vitamin B12 receptor means that it can't be absorbed from food during digestion. As a result of the low vitamin B12 levels, the body produces increased numbers of abnormal enlarged red blood cells (megaloblasts).
• Metabolic disorder: occurs when abnormal chemical reactions occur in the body
• Moccasin snake poisoning: The Moccasin snake is a poisonous snake found mainly in America and Asia. Moccasin snakes include the copperhead, cottonmouth and the Siberian, Central Asian and Malayan pit vipers. They are considered less venomous than rattlesnakes The snake venom contains toxins which affect the blood and tissues rather than the nervous system. Children tend to suffer more severe symptoms due to their smaller body size. Rapid swelling of the skin around the site of the bite is a sign of a more severe poisoning.
• Mohave Rattle snake poisoning: The Mohave rattle snake is a poisonous snake found mainly in Mexico and south-western areas of the US. The type of venom in Mohave snakes varies amongst species. Those with Type A venom tend to affect the nervous system whereas those with Type B venom primarily affect the blood and tissues. Type A tends to be more toxic than type B. Children tend to suffer more severe symptoms due to their smaller body size.
• Mucormycosis: An infectious disease caused by fungus from the order Mucorales which is normally found in the soil and in decaying plant matter. Transmission is usually through the inhalation of spores. It is generally harmless to healthy individuals but can cause infection in patients who are immunocompromised or who have a serious chronic illness such as uncontrolled diabetes. Symptoms and severity can vary considerable depending on the part of the body the infection occurs in - gastrointestinal tract, skin, lungs, central nervous system, eye orbit and the paranasal sinuses.
• Mycobacterium Fortuitum: An infectious disease caused by Mycobacterium fortuitum which can be found in soil, dust and water. It usually causes infection of the skin and surrounding area usually after some sort of skin trauma such as an injury or surgery.
• Myelocerebellar disorder: A rare genetic disorder characterized by cerebellar ataxia (nervous system disorder that causes unsteadiness and incoordination) and pancytopenia (shortage of all types of blood cells).
• Myelodysplastic/myeloproliferative disease: A rare group of blood and bone marrow diseases which contains features of myelodysplastic and myeloproliferative disease. Myelodysplastic disease is when the immature blood cells do not develop into normal functioning mature cells. Myeloproliferative disease is where excessive numbers of blood cells are made.
• Myelokathexis syndrome: A very rare disease involving chronic moderate neutropenia. The disease process is not well understood but appears to involve the retention of abnormal mature neutrophils in the bone marrow.
• Myeloperoxidase deficiency: A disorder where and enzyme (myeloperoxidase) deficiency which impairs the ability of the body's immune system to destroy invading bacteria and other pathogens. The condition may be due to inherited genetic anomalies or such things as lead poisoning, pregnancy, sepsis, lead poisoning and leukemias. Many patients are asymptomatic and symptomatic patients are more prone to serious fungal infections.
• Natal teeth intestinal pseudoobstruction patent ductus: A very rare syndrome characterized mainly by poor immunity, intestinal and heart problems and the premature eruption of primary teeth.
• Natal teeth, intestinal pseudoobstruction and patent ductus: A very rare syndrome characterized mainly by poor immunity, intestinal and heart problems and the premature eruption of primary teeth.
• Nephrocalcinosis: The presence of calcium deposits in the kidney.
• Nephrotic syndrome: A condition involving excess loss of protein in the urine, reduced albumin levels in the blood and swelling.
• Neuroblastoma: neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue
• Neurodermatitis: Lichen simplex chronicus refers to thickened itchy skin that results from persistently rubbing or scratching an area of skin.
• Neuropathy, Hereditary Sensory, Type II: A very rare inherited condition characterized mainly by the loss of all sensations such as pain, temperature and touch. The sensation impairment starts in the toes and fingers and spreads up the limbs with the trunk occasionally being affected. Injuries to the hands and feet are common as there is no pain associated with injury and the patient may be unaware that they even have an injury.
• Neuropathy, Hereditary Sensory, Type IV: A rare disorder characterized mainly by insensitivity to pain and inability to sweat.
• Neutropenia: A reduced number of neutrophils in the blood.
• Neutropenia - monocytopenia - deafness: A very rare syndrome characterized mainly by deafness and a blood disorder.
• Neutropenia, severe chronic: A rare blood disorder where there are abnormally low levels of neutrophils (type of white blood cell) in the body which impairs the body's ability to fight bacterial infections. There are four main types of the disorder: idiopathic, congenital, autoimmune and cyclical.
• Nezelof's syndrome: An immune deficiency disorder where the cells that normally fight infection don't work properly and patients suffer frequent severe infections.
• Nickel contact allergy: Nickel contact allergy usually refers to an allergic response to nickel which is found in most jewellery. Even high carat gold has some nickel content which may pose problems for some people. Symptoms usually only involve the skin that is in contact with the jewellery. Nickel may also be found in watch straps, belt buckles and jeans studs.
• Nosocomial infections: Any infection that originates in a hospital
• Obstructive biliary disease: A disease process that causes obstruction or blockage in one of the bile ducts which are vessels that carry bile from the liver to the digestive system or gallbladder. Diseases that can cause such obstructions includes tumors, gallstones, parasites, bile duct inflammation, trauma to the bile duct and biliary strictures.
• Oculocerebral hypopigmentation syndrome, type Preus: A very rare syndrome characterized mainly by eye, brain and pigmentation abnormalities.
• Olanzapine - Teratogenic Agent: There is evidence to indicate that exposure to Olanzapine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Omphalomesenteric cyst: A very rare umbilical disorder where the omphalomesenteric duct that forms in the early fetal stages fails to disappear during the first couple of months of development and results in the formation of a cyst. The cyst can become infected.
• Onycho-tricho-dysplasia - neutropenia: A very rare syndrome characterized mainly by hair and nail abnormalities, neutropenia and psychomotor retardation.
• Onychotrichodysplasia and neutropenia: A very rare syndrome characterized mainly by nail, hair and blood abnormalities.
• Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome: A very rare syndrome characterized mainly by hair and nail abnormalities, neutropenia and mental retardation.
• PUPPPS: Pruritic urticarial papules and plaques of pregnancy
• Pancreatitis: Any inflammation that occurs in the pancreas
• Pasteurella multocida: An infectious disease caused by a bacterium called Pasteurella multocida. It is often transmitted through bites and scratches from pets and it can be found in mammals and fowl.
• Pearson's anemia: Pearson's anemia is a rare progressive condition characterized by abnormal pancreatic functioning and sideroblastic anemia. Diagnosis usually occurs within the first 7 years of life and death in infancy is common.
• Pellagra: Dietary deficiency of vitamin B3 (niacin)
• Pemphigus Foliaceus: A relatively milder form of the autoimmune skin disorder called pemphigus. Blisters occur on the skin but usually the mucous membranes are unaffected.
• Phaeohyphomycosis: An opportunistic infection that is caused by dermatiaceous fungi
• Phototoxic eczema: Phototoxic eczema is skin irritation and inflammation which occurs as an abnormal response to exposure to UV light radiation. The cause of this sensitivity may result from the use of certain drugs or exposure various other photosensitizing substances such as certain plants.
• Polychondritis: A serious, progressive, episodic condition characterized by inflammation and degeneration of cartilage in the body. The duration and severity of the episodes can vary.
• Polycystic kidney disease: Genetic kidney disease causing kidney cysts.
• Polycystic kidney disease, infantile type: Severe form of polycystic kidney disease which is a genetic kidney disease. Symptoms develop very early in life and may even be present during the fetal stage.
• Polyendocrine deficiency syndrome type 1: Multi-endocrine syndrome commonly affecting children
• Porphyria, hereditary coproporphyria: An inherited disorder that affects the nervous system and sometimes the skin. It occurs when a metabolic disorder results in excessive production of coproporphyrins which accumulate in body tissues and is excreted in large amounts.
• Posterior valve, urethra: A congenital defect where there is an abnormal membrane in the back of the male urethra which affects urine flow. The urine can flow back through the valve and cause problems for organs such as the urethra, bladder, ureters and even the kidneys. The severity of the condition is determined by the severity of the malformation. Severe defects can cause fetal death and mild defects may cause incontinence.
• Postoperative Abdominal Wound Dehiscence: The breakdown of a postoperative abdominal wound
• Primary Immune Deficiency: Various types of immune deficiencies; usually genetic.
• Primary agammaglobulinemia: A genetic disorder characterized by a deficiency of antibodies due to abnormal development of B lymphocytes.
• Primary hyperoxaluria type 2: A rare inherited inborn metabolic disorder characterized by excessive amounts of oxalate in the urine and deposits of oxalate in the kidneys which leads to progressive kidney failure. There are two subtypes of Oxalosis, each with a different origin for the genetic defect involved. Type 2 involves a deficiency of a liver enzyme called D-Glycerate Dehydrogenase. Type 2 tends to cause a milder disease than type 1 with better longterm outcomes.
• Primary sclerosing cholangitis: Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease of unknown etiology that is recognized increasingly in children.
• Prostate symptoms: Symptoms of the male prostate gland
• Prostatitis: Inflammation of the prostate
• Psoriasis: Chronic skin rash condition, usually red or silver and blistery.
• Purine nucleoside phosphorylase deficiency: A very rare genetic disease involving an enzyme (purine nucleoside phosphorylase - PNP) deficiency which causes a buildup of toxic metabolic products which in turn impairs the development of T-cells (part of the body's immune system). The condition is characterized primarily by frequent infections and various neurological symptoms.
• Pyridoxine deficiency: Deficiency of vitamin B6 which has many uses in the body.
• Radiation sickness: Illness from radiation exposure or cancer radiotherapy.
• Rash: Rash of any type affecting the skin.
• Rat-bite fever: A disease caused by a rat bite where the patient becomes infected by a bacteria (causes skin ulceration and recurrent fever) or a fungus (causes skin inflammation, muscle pain and vomiting). Also called sodokosis.
• Rattle snake poisoning: The Rattle snake is a poisonous snake found mainly in America. They are distinguished by a characteristic rattle at the tip of their tail.
• Recurrent infections: Recurrent infections that occur throughout the year.
• Recurrent infections - short stature - hypopigmentation - coarse face: A rare syndrome characterized by recurring infections, short stature, reduced pigmentation and a coarse face.
• Renal segmental hypoplasia-induced Hypertension: Renal segmental hypoplasia-induced hypertension is high blood pressure resulting from either an abnormally developed kidney (birth defect) or from damage to the kidney resulting from vesicureteral reflux.
• Retinopathy - aplastic anemia - neurological abnormalities: A very rare syndrome characterized by retinal disease, aplastic anemia and neurological problems.
• Rhodococcus equi: A rare form of bacterial infection that usually affects horses and foals but can cause infection mainly in immunocompromised people. Infection usually starts at the site of some sort of trauma. Symptoms and severity may vary considerably depending on the location and extent of the infection.
• Right parietal lobe syndrome related Alzheimer's disease: Right parietal lobe syndrome related Alzheimer's disease is a variant of Alzheimer's disease that involves abnormalities in a particular part of the brain. It is characterized by Alzheimer's symptoms as well as problems with such things as construction (making things) and drawing as well as denial of their disabilities. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Rombo syndrome: A very rare syndrome characterized mainly by
• SCID: Major failure of the immune system, usually genetic.
• Sacral hemangiomas - multiple congenital abnormalities: A very rare syndrome characterized by hemangiomas and other abnormalities involving the tailbone and anal area.
• Scleroderma: A rare, progressive connective tissue disorder involving thickening and hardening of the skin and connective tissue. There are a number of forms of scleroderma with some forms being systemic (involving internal organs).
• Sea snake poisoning: The Sea snake is a poisonous snake found in the warmer western parts of the Pacific and Indian Ocean. Sea snakes have scales but not gills or fins so they still need to go to the surface of the water to breathe. Sea snake venom is particularly poisonous but their bite fails to achieve any significant envenomation. The venom is toxic to the nervous system and muscles.
• Secondary Reflux: A urological abnormality where some of the urine flows from the bladder back into the kidneys. Vesicoureteral reflux may result from secondary causes such as a urinary tract blockage but primary vesicoureteral reflex results from a genetic defect which affects the development of the ureterovesical junction.
• Selective IgA Deficiency: Immune deficiency from lacking immunoglobulin A (IgA) antibodies.
• Selective Vitamin B12 malabsorption with Proteinuria: A rare genetic blood disorder where a defect in the vitamin B12 receptor means that it can't be absorbed from food during digestion. As a result of the low vitamin B12 levels, the body produces increased numbers of abnormal enlarged red blood cells (megaloblasts).
• Serratia: An infectious disease caused by bacteria from the Serratia genus. The bacteria can cause urinary tract infection, pneumonia, respiratory tract infections, endocarditis, osteomyelitis, septicemia, eye infection, meningitis and wound infections. This type of bacterial infection shows some antibiotic resistance. Symptoms and severity depend on the location and extent of the infection.
• Severe combined immunodeficiency with sensitivity to ionizing radiation: A rare disorder characterized by a defective immune system and an increased risk of cancer due to an abnormal sensitivity to ionizing radiation.
• Severe combined immunodeficiency, T- B+ due to JAK3 deficiency: A recessively inherited immunodeficiency disorder characterized by a lack of circulating T and Natural Killer Cells and a normal level of B cells. The disorder is caused by a defect on the JAK3 gene. Infants may display symptoms such as pancytopenia, skin rash and abnormal liver function due to a graft-versus-host reaction to the mother's T cells via the placenta. If the condition is not treated, death occurs.
• Severe combined immunodeficiency, X-linked: A rare inherited disorder where a genetic mutation results in a deficiency of normal lymphocytes which results in a poorly functioning immune system. Sufferers are prone to infections which would probably be harmless in people with fully functioning immune systems.
• Severe congenital neutropenia: A rare inherited blood disorder involving a lack of neutrophils which are a type of white blood cell needed to fight bacterial infections.
• Short Bowel Syndrome: Disorder of shortened bowel usually from bowel surgery.
• Siccardi syndrome: A rare disorder characterized by impaired immunity (due to defective bacterial destruction by neutrophils), lymphadenopathy and abnormal skin and hair color.
• Sickle cell anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
• Significant infection:
• Skin allergies: A reaction to the exposure of the skin to an allergen
• Skin allergy: A skin allergy is an adverse response by the body's immune system to an allergen. The response may occur when the allergen comes into contact with the skin or when it is inhaled or ingested. A skin allergy manifests in skin symptoms such as hives and itchy skin. The severity of the response is variable.
• Skin conditions: Any condition that affects the skin
• Skin infections: Infection or inflammation of the skin.
• Skin inflammation: The occurrence of inflammation that is located on the skin
• Smoldering adult T-Cell leukemia: A form of blood cancer affecting the T-cells which make up the body's immune system. The disease is caused by the HTLV-1 virus (human T-cell leukemia virus) which causes the proliferation of abnormal T-cells. The virus can be transmitted sexually and may lay dormant for decades. There are four subtypes: acute, chronic, lymphoma and smoldering. The acute and lymphoma subtypes have the poorest prognosis. The smoldering form tends to progress even slower than the chronic form and responds the best to treatment.
• Sneddon-Wilkinson disease: A rare chronic condition involving the development of blisters and pustules, usually on the trunk, armpits and flexural areas. It is often associated with conditions such as thyroid problems, lupus and rheumatoid arthritis. The condition tends to flare up for a few weeks and the clear up for months or years before recurring.
• Spirurida Infections: Infection with a nematode (worm) from the spirurida order. Nematodes from this order include Loa eyeworm, wuchereria and mansonella. The symptoms are determined by which species is involved. Some cases can result in severe complication if the nematode invades and organ or compresses vital nerves or blood vessels.
• Spleen neoplasm: A tumor that originates in the spleen.
• Spondylocostal dysostosis, autosomal recessive: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. The recessive form is more severe than the dominantly inherited form.
• Spondylometaphyseal dysplasia with combined immunodeficiency: A rare syndrome characterized by skeletal abnormalities as well as a poor immune system.
• Stenotrophomonas maltophilia: A bacteria that is usually found in aquatic environments, is not very virulent and rarely infects humans. Most cases of infection tends to occur through use of hospital appliances such as catheters, I.V lines and breathing tubes in immunocompromised people.
• Streptococcal Group A invasive disease: Group A streptococci are bacteria which are commonly found in the throat or on the skin. Often it causes no symptoms but in some cases it can cause mild illnesses such as strep throat or more serious, life-threatening diseases such as toxic shock syndrome or flesh-eating disease. Transmission can occur through direct contact with infected skin sores or nose and throat discharges. Symptoms are determined by the location and extent of the bacterial infection.
• Streptococcal Toxic Shock Syndrome: Toxic shock from streptococcal bacteria infection.
• Stress-related eczema: Stress-related eczema is chronic skin inflammation and irritation which is triggered by stress. The severity and extent of the skin involved is variable. Stress may trigger a flare up or may exacerbate existing eczema.
• Sulfone syndrome: A hypersensitivity reaction to sulfone which is a component of a drug called dapsone which is often used to treat skin conditions such as leprosy, vasculitis, dermatitis herpetiformis and Sweet disease. The reaction can result in death in some cases.
• Sump Syndrome: A complication that can sometimes occur after an operation done to treat recurring stone disease. The surgery involves forming a connection between the common bile duct and the intestines. Sometimes a pit-like (sump) portion develops along the bile duct and this allows debris such as food to build up in a pit-like (sump) portion of the bile duct. The buildup of debris can lead to infection.
• T-cell immunodeficiency primary: An immune system abnormality that involves problems with T-cells caused by a genetic defect.
• Temperature-related eczema: Temperature-related eczema is chronic skin inflammation and irritation which is triggered by changes in temperature, excessive heat, excessive cold or humidity extremes. The severity and extent of the skin involved is variable. Excessive temperatures may trigger a flare up or may exacerbate existing eczema.
• Thong-Douglas-Ferrante syndrome: A very rare syndrome characterized mainly by short stature, deafness and a blood abnormality.
• Transcobalamin 2 deficiency: A rare genetic syndrome involving a lack of transcobalamin 2 which is needed to transport vitamin B12 to various parts of the body.
• Transplants: The transplantation of any tissue into an individual
• Trichomoniasis: Sexually transmitted parasitic infection.
• Urachal cancer: A very rare cancer that occurs in the top of the urinary bladder. The urachus is a tube which joins the belly button to the top of the bladder. After birth, this tube gradually disappears and the amount remaining varies from person to person.
• Urachal cyst: A cyst which occurs in the remnants between the umbilicus and bladder
• Urethral obstruction sequence: A condition which is characterised by the early obstruction of the urethra.
• Urinary incontinence: Inability to fully control urination.
• Urinary tract infection: Infection of the urinary tract
• Urofacial syndrome: A very rare inherited disorder characterized by an unusual face and abnormalities in organs involved with urination.
• Varicose eczema: Varicose eczema is a chronic skin condition that involves the skin on or near varicose veins in the legs - usually the skin on the ankles are affected. Varicose veins occur when the valves in particular blood vessels malfunction and allow the blood to flow backwards. The condition is more likely to occur in people who are overweight.
• Vesicoureteral Reflux 1: A urological abnormality where some of the urine flows from the bladder back into the kidneys. Vesicoureteral reflux may result from secondary causes such as a urinary tract blockage but primary vesicoureteral reflex results from a genetic defect which affects the development of the ureterovesical junction. Type 1 is linked to a defect in chromosome 1p13 and type 2 is linked to a defect in chromosome 3p12.3. A significant number of children (up to a third) who develop urinary tract infections have vesicoureteral reflux.
• Vesicoureteral Reflux 2: A urological abnormality where some of the urine flows from the bladder back into the kidneys. Vesicoureteral reflux may result from secondary causes such as a urinary tract blockage but primary vesicoureteral reflex results from a genetic defect which affects the development of the ureterovesical junction. Type 1 is linked to a defect in chromosome 1p13 and type 2 is linked to a defect in chromosome 3p12.3. A significant number of children (up to a third) who develop urinary tract infections have vesicoureteral reflux.
• Vesicoureteral reflux: Reverse flow of urine from bladder back into kidneys.
• Von Gierke disease IB: A metabolic disorder involving a deficiency of glucose-6-phosphatase (due to a G6P transporter defect) which results in the accumulation of glycogen in various tissues and a reduced blood sugar level. The condition is characterized primarily by an increased risk of bacterial infections due to impaired neutrophil activity which is needed to fight bacterial invasions.
• Wiskott-Aldrich Syndrome: An inherited immune system disorder that affects only males and is characterized by recurring infections, eczema and reduced level of blood platelets (thrombocytopenia).
• X-Linked Agammaglobulinemia: Immune deficiency from lack of antibodies.
• X-linked agammaglobulinaemia: A condition that is characterised by the x linked inheritance of the absence of all immunoglobulins in the blood
• X-linked alpha thalassemia mental retardation syndrome (ATR-X): An x-linked condition that features mental retardation, dysmorphic features, and alpha thalassemia
• Xanthine oxydase deficiency: The deficiency of an enzyme that is involved in the degradation of purine
• Xanthinuria: A hereditary condition that is characterised by a disorder of purine metabolism
• Yellow sac spider poisoning: The yellow sac spider is a small spider found in Hawaii, eastern US, Utah and New England. The spider tends to hold on very tightly when it bites and often has to be physically removed. The venom contains a toxin which kills cells. Skin and sometimes systemic symptoms result - symptoms experience can vary amongst patients.
• Yusho disease: A condition that affects the menstrual cycle of female as well as having effects on the immune system
• ZAP70 deficiency: A condition characterised by a deficiency of the Zap70 tyrosine kinase which is a component
• Zygomycosis: An infectious disease caused by fungus from the orders Mucorales and Entomophthorales which are normally found in the soil and in decaying plant matter. The infection differs from mucormycosis which only involves the order Mucorales. Transmission is usually through the inhalation of spores. It is generally harmless to healthy individuals but can cause infection in patients who are immunocompromised or who have a serious chronic illness such as uncontrolled diabetes. Symptoms and severity can vary considerable depending on the part of the body the infection occurs in - gastrointestinal tract, skin, lungs, central nervous system, eye orbit and the paranasal sinuses.

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