Prevalence and Incidence of Genetic Disease

Prevalance of Genetic Disease:

12 million Americans - unreliable estimate, (perhaps 2.5% births) ... see also overview of Genetic Disease.

Prevalance Rate:

approx 1 in 22 or 4.41% or 12 million people in USA [Source statistic for calcuation: "12 million Americans - unreliable estimate, (perhaps 2.5% births)" -- see also general information about data sources]

Prevalance of types of Genetic Disease:

For details see prevalence of types of Genetic Disease analysis; summary of available prevalence data:

• Autosomal dominant polycystic kidney disease: 540,000 Americans approximately (90% of PKD)
• Machado-Joseph Disease: rare
• Marfan syndrome: 1 per 5,000 people are affected by Marfan syndrome worldwide, Genetics Home Reference website
• Otosclerosis: as many as 10% of Caucasians have the condition but most do not get symptoms; about 1 in 100 cases actually lose hearing from otosclerosis
• Coffin-Lowry syndrome: estimated 7 per 100,000 people have Coffin-Lowry syndrome in western Europe and North America, Genetics Home Reference website
• Incontinentia Pigmenti: 700 - 1,000 cases of incontinentia pigmenti have been reported, Genetics Home Reference website
• Alpers Syndrome: rare
• Autosomal Recessive Polycystic Kidney Disease: estimated 1 per 20,000 - 40,000 people suffer from the autosomal recessive type of polycystic kidney disease, Genetics Home Reference website
• Cystic Fibrosis: 1 per 31,000 Asian American newborns suffer from cystic fibrosis in the US, genetics Home Reference website
• Sickle Cell Anemia: estimated 1 per 1,000 Hispanic Americans are affected by sickle cell disease in the US, Genetics Home Reference website
• Thalassemia: 1,000 people with Cooley's anemia (NHLBI)
• Usher Syndrome: 16,000 Americans
• Deuteranopia: about 1% of white males
• Fragile-X Syndrome: approximately 1 per 8,000 females suffer from fragile X syndrome, Genetics Home Reference website
• Hemophilia: 20,000 people in the United States (NHLBI)
• Protanopia: about 1% of white males
• Red-green color blindness: about 10% of males
• X-Linked Agammaglobulinemia: 1-in-100,000
• Adrenoleukodystrophy: 1 per 20,000 people suffer from X-linked adrenoleukodystrophy, Genetics Home reference website
• Alexander Syndrome: rare
• Autoimmune Lymphoproliferative Syndrome: very rare; NIAID mentions 58 individuals
• Canavan disease: 1 per 6,400 - 13,500 people of Ashkenazi Jewish heritage suffer from Canavan disease, Genetics Home Reference website
• Charcot-Marie-Tooth Disorder: 150,000 people are affected by Charcot-Marie-Tooth disease in the US, Genetics Home Reference website
• Chronic Granulomatous Disease: 1-in-4 million to 5 million (NIAID)
• Ehlers-Danlos syndrome: estimated 1 per 250,000 people suffer from the vascular type of Ehlers-Danlos syndrome, Genetics Home Reference website
• Gaucher Disease: 1 per 50,000 - 100,000 people are affected by Gaucher disease, Genetics Home Reference website
• Hallervorden-Spatz disease: rare
• Heritable Disorders of Connective Tissue: estimated 1 million people in USA with heritable connective tissue disorder (NIAMS)
• Hyperkalemic periodic paralysis: 1 per 200,000 people are affected by hyperkalemic periodic paralysis, Genetics Home Reference website
• Hypokalemic periodic paralysis: 1 per 100,000 people suffer from hypokalemic periodic paralysis, Genetics Home Reference website
• Joubert Syndrome: rare
• Lesch-Nyhan syndrome: 1 per 380,000 people are affected by Lesch-Nyhan syndrome worldwide, Genetics Home Reference website
• Mobius syndrome: rare
• Multiple endocrine neoplasia type 1: 3 per 100,000 up to 20 per 100,000 (NIDDK)
• Multiple endocrine neoplasia type 2: about 1 per 300 000 people suffer from multiple endocrine neoplasia type 1 in the US, Genetics Home Reference website
• Myotonic Dystrophy: Type I myotonic dystrophy accounts for 98% of all cases of myotonic dystrophy, Genetics Home Reference website
• Neurofibromatosis-1: 1 per 3,000 - 4,000 people suffer from neurofibromatosis type 1 worldwide, Genetics Home Reference website
• Osteogenesis imperfecta: 6-7 per 100,000 people are affected by osteogenesis imperfecta worldwide, Genetics Home Reference website
• Phenylketonuria: 1 per 10,000 - 15,000 newborns are diagnosed with phenylketonuria in the US, Genetics Home Reference website
• Polycystic kidney disease: 600,000 Americans
• Progeria: over 100 cases of Hutchinson-Gilford progeria syndrome have been reported worldwide since 1886, Genetics Home Reference website
• Retinoblastoma: 3% of cancers in children under the age of 15 are due to retinoblastomas, Genetics Home Reference website
• Rett's syndrome: estimated 1 per 10,000 - 22,000 females suffer from Rett syndrome, Genetics Home Reference website
• Sandhoff Disease: rare
• SCID: approximately 1-per-500,000 (NIDCD); 1-per-million
• Soto's Syndrome: rare
• Spinal Muscular Atrophy: 1 per 6,000 - 10,000 people suffer from spinal muscular atrophy, Genetics Home Reference website
• Tuberous sclerosis: less than 1 in 10,000
• Von Willebrand disease: estimated 3 million mostly undiagnosed
• Williams Syndrome: estimated 1 per 7,500 - 20,000 people suffer from Williams syndrome, Genetics Home Reference website
• more types of Genetic Disease...»

Incidence of types of Genetic Disease:

For details see incidence of types of Genetic Disease analysis; summary of available incidence by type data:

• Cystic Fibrosis: 2,500 babies annually USA; 1 in 3,000 Caucasian babies
• Sickle Cell Anemia: 1 per 500 African American births; 1 per 1,000-1,400 Hispanic-American births
• Duchenne Muscular Dystrophy: about 1 in 3000 males¹.
• Fragile-X Syndrome: about 1 in 1500 males¹.
• Hemophilia: about 400 babies annually (NHLBI)
• Neurofibromatosis: about 1 in 3000¹.
• Osteogenesis imperfecta: about 1 in 10,000¹.
• Phenylketonuria: 1 of every 10,000 infants in the United States (NIDCD)
• Retinoblastoma: estimated 1 per 250 children are diagnosed with retinoblastomas each year, Genetics Home Reference website
• Rett's syndrome: 1 in 10,000-15,000 live female births
• Soto's Syndrome: estimated 1 per 5,000 newborns have Sotos syndrome which includes reported cases and undiagnosed cases, Genetics Home Reference website
• more types of Genetic Disease...»

About prevalence and incidence statistics:

The term 'prevalence' of Genetic Disease usually refers to the estimated population of people who are managing Genetic Disease at any given time. The term 'incidence' of Genetic Disease refers to the annual diagnosis rate, or the number of new cases of Genetic Disease diagnosed each year. Hence, these two statistics types can differ: a short-lived disease like flu can have high annual incidence but low prevalence, but a life-long disease like diabetes has a low annual incidence but high prevalence. For more information see about prevalence and incidence statistics.

Footnotes:
1. Pathophysiology of Disease, Stephen J. McPhee, Vishwanash R. Lingappa, Willim F. Ganong, Jack D. Lang, Prentice Hall, 1995

 » Next page: Videos related to Genetic Disease

Rate This Website

What do you think about the features of this website? Take our user survey and have your say:

Website User Survey

Medical Tools & Articles:

Next articles:

• Videos related to Genetic Disease
• Types of Genetic Disease
• Prevalence of Types of Genetic Disease
• Incidence of Types of Genetic Disease
• Causes of Genetic Disease

Tools & Services:

• Bookmark this page
• Take a survey relating to Genetic Disease
• Symptom Search
• Symptom Checker
• Medical Dictionary
• Give your feedback

Medical Articles:

• Disease & Treatments Search
• Misdiagnosis Center
• Full list of interesting articles

Forums & Message Boards

• Ask or answer a question at the Boards:
• I cannot get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for my condition?
• See all the Boards.

Enter your search terms Submit search form
Search The Web Search wrongdiagnosis.com

Common Health Mistakes

Symptom
Checker

Search Specialists by State and City