Disease | Incidence Estimate | US people estimate | Statistic Used for Calculation |
| Genetic Disease (overall) |
N/A |
N/A |
12 million Americans - unreliable estimate, (perhaps 2.5% births)
|
| Autosomal Genetic Diseases |
N/A |
N/A |
No information
|
| X-linked Genetic Diseases |
N/A |
N/A |
No information
|
| Dominant Genetic Diseases |
N/A |
N/A |
No information
|
| Autosomal Dominant Genetic Diseases |
N/A |
N/A |
No information
|
| Autosomal dominant polycystic kidney disease |
N/A |
N/A |
No information
|
| Machado-Joseph Disease |
N/A |
N/A |
No information
|
| Marfan syndrome |
N/A |
N/A |
No information
|
| MODY diabetes |
N/A |
N/A |
No information
|
| Otosclerosis |
N/A |
N/A |
No information
|
| X-linked Dominant Genetic Diseases |
N/A |
N/A |
No information
|
| Coffin-Lowry syndrome |
N/A |
N/A |
No information
|
| Incontinentia Pigmenti |
N/A |
N/A |
No information
|
| Recessive Genetic Diseases |
N/A |
N/A |
No information
|
| Autosomal Recessive Genetic Diseases |
N/A |
N/A |
No information
|
| Alpers Syndrome |
N/A |
N/A |
No information
|
| Autosomal Recessive Polycystic Kidney Disease |
N/A |
N/A |
No information
|
| Cystic Fibrosis |
approx 1 in 108,800 or 0.00% or 2,500 people in USA |
2,500 |
2,500 babies annually USA; 1 in 3,000 Caucasian babies
|
| Sickle Cell Anemia |
approx 1 in 34,000 or 0.00% or 8,000 people in USA |
8,000 |
1 per 500 African American births; 1 per 1,000-1,400 Hispanic-American births
|
| Spinal Muscular Atrophy type I |
N/A |
N/A |
No information
|
| Spinal Muscular Atrophy type II |
N/A |
N/A |
No information
|
| Spinal Muscular Atrophy type III |
N/A |
N/A |
No information
|
| Tay Sachs |
N/A |
N/A |
No information
|
| Thalassemia |
N/A |
N/A |
No information
|
| Usher Syndrome |
N/A |
N/A |
No information
|
| X-linked Recessive Genetic Diseases |
N/A |
N/A |
No information
|
| Becker Muscular Dystrophy |
N/A |
N/A |
No information
|
| Deuteranopia |
N/A |
N/A |
No information
|
| Duchenne Muscular Dystrophy |
approx 1 in 6,000 or 0.02% or 45,333 people in USA |
45,333 |
about 1 in 3000 males1.
|
| Fragile-X Syndrome |
approx 1 in 3,000 or 0.03% or 90,666 people in USA |
90,666 |
about 1 in 1500 males1.
|
| Hemophilia |
approx 1 in 680,000 or 0.00% or 400 people in USA |
399 |
about 400 babies annually (NHLBI)
|
| Progressive Spinobulbar muscular atrophy |
N/A |
N/A |
No information
|
| Protanopia |
N/A |
N/A |
No information
|
| Red-green color blindness |
N/A |
N/A |
No information
|
| Wiskott-Aldrich Syndrome |
N/A |
N/A |
No information
|
| X-Linked Agammaglobulinemia |
N/A |
N/A |
No information
|
| Sporadic Genetic Diseases |
N/A |
N/A |
No information
|
| Germinal mosaicism |
N/A |
N/A |
No information
|
| Y-linked Genetic Diseases |
N/A |
N/A |
No information
|
| Double Dominant Genetic Disease |
N/A |
N/A |
No information
|
| Triplet Repeat Genetic Disorders |
N/A |
N/A |
No information
|
| Adrenoleukodystrophy |
N/A |
N/A |
No information
|
| Adult SMA |
N/A |
N/A |
No information
|
| Adult-onset ALD |
N/A |
N/A |
No information
|
| Albinism |
N/A |
N/A |
No information
|
| Alexander Syndrome |
N/A |
N/A |
No information
|
| Autoimmune Lymphoproliferative Syndrome |
N/A |
N/A |
No information
|
| Batten Disease |
N/A |
N/A |
No information
|
| Canavan disease |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth Disorder |
N/A |
N/A |
No information
|
| Chronic Granulomatous Disease |
N/A |
N/A |
No information
|
| Classic childhood ALD |
N/A |
N/A |
No information
|
| Classic galactosemia |
N/A |
N/A |
No information
|
| Congenital adrenal hyperplasia |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome |
N/A |
N/A |
No information
|
| Epidermolysis bullosa |
N/A |
N/A |
No information
|
| Familial polyposis |
N/A |
N/A |
No information
|
| Fatal familial insomnia |
N/A |
N/A |
No information
|
| Female carrier ALD |
N/A |
N/A |
No information
|
| Fructosuria |
N/A |
N/A |
No information
|
| Galactosemia |
N/A |
N/A |
No information
|
| Gaucher Disease |
N/A |
N/A |
No information
|
| GSS (Gerstmann Sträussler Syndrome) |
N/A |
N/A |
No information
|
| Hallervorden-Spatz disease |
N/A |
N/A |
No information
|
| Hereditary Spastic Paraplegia |
N/A |
N/A |
No information
|
| Heritable Disorders of Connective Tissue |
N/A |
N/A |
No information
|
| Hyper-IgM Syndrome |
N/A |
N/A |
No information
|
| Hyperkalemic periodic paralysis |
N/A |
N/A |
No information
|
| Hypokalemic periodic paralysis |
N/A |
N/A |
No information
|
| Infantile Refsum Disease |
N/A |
N/A |
No information
|
| Joubert Syndrome |
N/A |
N/A |
No information
|
| Lesch-Nyhan syndrome |
N/A |
N/A |
No information
|
| Metachromatic Leukodystrophy |
N/A |
N/A |
No information
|
| Mobius syndrome |
N/A |
N/A |
No information
|
| Multiple endocrine neoplasia |
N/A |
N/A |
No information
|
| Multiple endocrine neoplasia type 1 |
N/A |
N/A |
No information
|
| Multiple endocrine neoplasia type 2 |
N/A |
N/A |
No information
|
| Multiple endocrine neoplasia type 3 |
N/A |
N/A |
No information
|
| Myotonic Dystrophy |
N/A |
N/A |
No information
|
| Neonatal ALD |
N/A |
N/A |
No information
|
| Neurofibromatosis |
approx 1 in 3,000 or 0.03% or 90,666 people in USA |
90,666 |
about 1 in 30001.
|
| Neurofibromatosis-1 |
N/A |
N/A |
No information
|
| Niemann-Pick disease |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta |
approx 1 in 10,000 or 0.01% or 27,200 people in USA |
27,199 |
about 1 in 10,0001.
|
| Periodic Paralyses |
N/A |
N/A |
No information
|
| Phenylketonuria |
approx 1 in 10,000 or 0.01% or 27,200 people in USA |
27,199 |
1 of every 10,000 infants in the United States (NIDCD)
|
| Polycystic kidney disease |
N/A |
N/A |
No information
|
| Porphyria |
N/A |
N/A |
No information
|
| Progeria |
N/A |
N/A |
No information
|
| Refsum Disease |
N/A |
N/A |
No information
|
| Retinoblastoma |
approx 1 in 249 or 0.40% or 1.1 million people in USA |
1,088,000 |
estimated 1 per 250 children are diagnosed with retinoblastomas each year, Genetics Home Reference website
|
| Rett's syndrome |
approx 1 in 10,000 or 0.01% or 27,200 people in USA |
27,199 |
1 in 10,000-15,000 live female births
|
| Sandhoff Disease |
N/A |
N/A |
No information
|
| SCID |
N/A |
N/A |
No information
|
| Soto's Syndrome |
approx 1 in 5,000 or 0.02% or 54,400 people in USA |
54,399 |
estimated 1 per 5,000 newborns have Sotos syndrome which includes reported cases and undiagnosed cases, Genetics Home Reference website
|
| Spinal Muscular Atrophy |
N/A |
N/A |
No information
|
| Tuberous sclerosis |
N/A |
N/A |
No information
|
| Von Willebrand disease |
N/A |
N/A |
No information
|
| Williams Syndrome |
N/A |
N/A |
No information
|
The medical term 'incidence' of Genetic Disease usually refers
to the annual diagnosis rate of new cases of Genetic Disease.
Prevalence is a different medical disease measure that refers
to the estimated population
of people who are managing Genetic Disease at any given time (e.g. prevalence includes people who have had
a medical condition for a long time).
For more information on prevalence and incidence statistics, see about prevalence and incidence statistics.
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