Glossary for Genetic Disease

• Adrenoleukodystrophy: A rare disorder which has characteristic symptoms of Addison disease (adrenocortical insufficiency) and Schilder disease (cerebral sclerosis). Bronze skin, brain sclerosis and demyelination are the main symptoms.
• Adult SMA: Form of Spinal Muscular Atrophy in adults.
• Adult-onset ALD: Form of ALD in adults.
• Albinism: A rare inherited condition characterized by a lack of pigmentation in the hair, skin and/or eyes.
• Alexander Syndrome: Brain myelin disorder causing mental degeneration.
• Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
• Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
• 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 Dominant Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
• Autosomal Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
• Autosomal Recessive Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
• Autosomal Recessive Polycystic Kidney Disease: Severe form of PKD, a genetic kidney disease.
• Autosomal dominant polycystic kidney disease: Genetic kidney disease causing kidney cysts.
• Batten Disease: Rare childhood genetic degenerative nerve system disease.
• Becker Muscular Dystrophy: A muscular dystrophy charaterised by enlargement of muscles
• Canavan disease: Rare genetic degenerative brain disease in infants.
• Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
• 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.
• Classic childhood ALD: Classic severe form of ALD in boys.
• Classic galactosemia: Rare serious genetic defect in galactose metabolism.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• Congenital adrenal hyperplasia: Congenital genetic disease with insufficiency of the adrenal glands
• Cystic Fibrosis: A rare genetic disease characterized by the production of thick secretions from the lung lining due to respiratory system damage.
• Deuteranopia: A type of altered vision with a confusion of greens and reds
• Dominant Genetic Diseases: Genetic disease where the mutated gene is dominant
• Double Dominant Genetic Disease: Rare genetic disease where person has two copies of a dominant gene.
• Duchenne Muscular Dystrophy: An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases.
• Ehlers-Danlos syndrome: A group of inherited connective tissue disorders primarily involving the joints and skin. There are 11 disorders in the group.
• 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.
• Familial polyposis: Rare genetic disease causing multiple colorectal polyps
• Fatal familial insomnia: A very rare inherited brain disease that severely affects sleep and causes progressive deterioration of mental and movement functions.
• Female carrier ALD: Mild form of ALD in female carriers
• Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
• Fructosuria: A rare harmless asymptomatic condition caused by a lack of the liver enzyme called fructokinase which is needed to turn fructose into glycogen.
• GSS (Gerstmann Sträussler Syndrome): Rare brain disease due to prions
• Galactosemia: Any of a number of recessive disorders that cause accumulation of galactose in the blood from an inability to metabolise galactose
• 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.
• Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
• Germinal mosaicism: Gonadal cells with a different number of chromosomes
• Hallervorden-Spatz disease: Nerve disorder causing movement problems.
• Hemophilia: Blood disease usually genetic causing failure to clot.
• Hereditary Hemochromatosis: A genetic disorder where too much iron is absorbed from food and it is stored in various parts of the body which can cause damage. There are 4 types of hemochromatosis and they are distinguished by age of onset, genetic cause and type of inheritance. Some sufferers may be asymptomatic.
• Hereditary Spastic Paraplegia: A slow-progressing degeneration of the tract that connects the brain to the spinal cord (corticospinal tract) resulting in muscle spasticity, weakness and paralysis. The severity of symptoms is determined by the nature and extent of the damage.
• Heritable Disorders of Connective Tissue: Genetic inheritable connective tissue disorders.
• 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.
• Hyperkalemic periodic paralysis: A rare inherited genetic condition characterized by temporary periods of severe muscle weakness. The condition tends to be more severe in males and can be triggered by stress, fasting, rest after exercise and eating foods high in potassium.
• Hypokalemic periodic paralysis: A rare inherited muscle condition characterized by periods of severe muscle weakness or paralysis which can last from hours to days. Episodes can occur as often as daily or only rarely.
• Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
• Infantile Refsum Disease: Genetic disease affecting nerve and muscle control.
• Joubert Syndrome: A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance.
• Lesch-Nyhan syndrome: Inherited biochemical disorder of purine metabolism caused by the virtual absence of an enzyme called hypoxanthine-guanine phosphoribosyltransferase or HPRT.
• MODY diabetes: Rare genetic form of diabetes with similar features to Type 2 diabetes.
• Machado-Joseph Disease: Rare genetic muscle disease causing muscle weakness.
• Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
• Metachromatic Leukodystrophy: An inherited biochemical deficiency involving a deficiency of the enzyme called arylsulfatase A which leads to a harmful buildup of fatty material in the body.
• Mobius syndrome: Type of facial paralysis.
• Multiple endocrine neoplasia: A group of conditions that is characterised by the hyperplasia and hyperfunction of two or more glands of the endocrine system
• Multiple endocrine neoplasia type 1: Rare inherited disease causing tumors in multiple glands
• Multiple endocrine neoplasia type 2: Rare inherited disease causing tumors in multiple glands
• Multiple endocrine neoplasia type 3: Rare inherited disease causing tumors in multiple glands
• Myotonic Dystrophy: An inherited disorder characterized by progressive muscle weakness and wasting as well as eye defects, heart abnormalities and other anomalies. The severity of the condition is greatly variable. There are two type of myotonic dystrophy with type 1 being more severe than type 2.
• Neonatal ALD: Progressive form of ALD in newborns.
• Neurofibromatosis: Nerve disorders often leading to tumors on nerves.
• Neurofibromatosis-1: Genetic disorder often leading to tumors on nerves.
• Niemann-Pick disease: A rare inherited biochemical disorder involving the deficiency of an enzyme (acid sphingomyelinase) needed to break down certain lipids which results in an accumulation of these lipids in the body.
• Non-Contagious Diseases: Any disease that is not contagious
• Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
• Otosclerosis: Genetic ear bone disorder
• Periodic Paralyses: Short episodes of muscle weakness.
• Phenylketonuria: A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
• Polycystic kidney disease: Genetic kidney disease causing kidney cysts.
• Porphyria: A group of disorders characterized by excess production of porphyrin or its precursors which affects the skin and/or nervous system.
• Progeria: A rare fatal genetic disorder characterized by extremely premature aging.
• Progressive Spinobulbar muscular atrophy: Genetic disease affecting nerves and muscles
• Protanopia: The inability to see all four primary colours rather limited to seeing blu and yellow
• Radiation sickness: Illness from radiation exposure or cancer radiotherapy.
• Recessive Genetic Diseases: A disease that produces an effect in humans only when it is homozygous
• Red-green color blindness: Inability to distinguish red and green colors.
• Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
• Retinoblastoma: A very rare malignant tumor that originates in the retina.
• Rett's syndrome: Autism-like behavioral syndrome in infant girls
• SCID: Major failure of the immune system, usually genetic.
• Sandhoff Disease: An inherited biochemical disorder involving a deficiency of the enzyme called hexosaminidase A&B which results in the harmful accumulation of chemicals in the central nervous system and other body tissues.
• Sickle Cell Anemia: An inherited disorder that affects hemoglobin S which is a blood component that allows red blood cells to carry oxygen. Red blood cells become sickle shaped rather than the normal doughnut shape. Severity of symptoms are variable.
• Soto's Syndrome: A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies.
• Spinal Muscular Atrophy: A rare condition characterized by progressive degeneration of the spinal and brainstem motor neurons. During fetal development excess primary neurons are formed. The body automatically destroys the extra primary neurons so that only some survive and mature into neurons. In spinal muscular dystrophy, the process that destroys the excess primary neurons doesn't switch off and continues destroying the neurons resulting in progressive motor problems. Various types of the condition range from mild to severe enough to cause death within a couple of years of birth.
• Spinal Muscular Atrophy type I: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
• Spinal Muscular Atrophy type II: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
• Spinal Muscular Atrophy type III: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
• Sporadic Genetic Diseases: Genetic conditions that occur sporadically
• Tay Sachs: Rare genetic disease leading to fatty deposits in the brain.
• Thalassemia: Genetic disease causing anemia
• Triplet Repeat Genetic Disorders: A disorder that is characterised by the repeat of a triplet sequence in the genetic sequence
• Tuberous sclerosis: A rare genetic disorder characterized by harmartomatous skin nodules, seizures, phakomata and bone lesions.
• Usher Syndrome: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss.
• Von Willebrand disease: A rare inherited blood coagulation disorder characterized by a deficiency or defect in plasma protein called the von Willebrand factor which leads to bleeding problems
• Weight Gain: An increase in weight for any reason.
• Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability
• 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).
• Wolf-Hirschhorn Syndrome: A syndrome which is caused by a partial deletion of the short arm of chromosome 4.
• X-Linked Agammaglobulinemia: Immune deficiency from lack of antibodies.
• X-linked Dominant Genetic Diseases: Any disease that affects the x chromosome and is inherited in a dominant manner
• X-linked Genetic Diseases: Genetic disease where the mutated gene is on the X chromosome
• X-linked Recessive Genetic Diseases: Genetic disease where the mutated gene is recessive and on the X chromosome
• Y-linked Genetic Diseases: Rare genetic diseases affecting the Y chromosome