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Diseases » Genetic Disease » Prevalence
 

Prevalence Statistics for Types of Genetic Disease

Prevalence Statistics for Types of Genetic Disease

The information below shows a list of types of Genetic Disease, with information as to the prevalence of each of these types. Estimates of the people affected are calculated based on the available statistic.

Disease Prevalence Estimate US people estimate Statistic Used for Calculation
Genetic Disease (overall) approx 1 in 22 or 4.41% or 12 million people in USA 11,999,999 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 approx 1 in 503 or 0.20% or 540,000 people in USA 539,999 540,000 Americans approximately (90% of PKD)
Machado-Joseph Disease N/A N/A rare
Marfan syndrome approx 1 in 5,000 or 0.02% or 54,400 people in USA 54,399 1 per 5,000 people are affected by Marfan syndrome worldwide, Genetics Home Reference website
MODY diabetes N/A N/A No information
Otosclerosis approx 1 in 10 or 10.00% or 27.2 million people in USA 27,200,000 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
X-linked Dominant Genetic Diseases N/A N/A No information
Coffin-Lowry syndrome approx 1 in 14,285 or 0.01% or 19,040 people in USA 19,040 estimated 7 per 100,000 people have Coffin-Lowry syndrome in western Europe and North America, Genetics Home Reference website
Incontinentia Pigmenti approx 1 in 388,571 or 0.00% or 700 people in USA 700 700 - 1,000 cases of incontinentia pigmenti have been reported, Genetics Home Reference website
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 rare
Autosomal Recessive Polycystic Kidney Disease approx 1 in 20,000 or 0.00% or 13,600 people in USA 13,599 estimated 1 per 20,000 - 40,000 people suffer from the autosomal recessive type of polycystic kidney disease, Genetics Home Reference website
Cystic Fibrosis approx 1 in 31,000 or 0.00% or 8,774 people in USA 8,774 1 per 31,000 Asian American newborns suffer from cystic fibrosis in the US, genetics Home Reference website
Sickle Cell Anemia approx 1 in 1,000 or 0.10% or 272,000 people in USA 544,000 estimated 1 per 1,000 Hispanic Americans are affected by sickle cell disease in the US, Genetics Home Reference website
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 approx 1 in 272,000 or 0.00% or 1,000 people in USA 1,000 1,000 people with Cooley's anemia (NHLBI)
Usher Syndrome approx 1 in 17,000 or 0.01% or 16,000 people in USA 16,000 16,000 Americans
X-linked Recessive Genetic Diseases N/A N/A No information
Becker Muscular Dystrophy N/A N/A No information
Deuteranopia approx 1 in 100 or 1.00% or 2.7 million people in USA 2,720,000 about 1% of white males
Duchenne Muscular Dystrophy N/A N/A No information
Fragile-X Syndrome approx 1 in 16,000 or 0.01% or 17,000 people in USA 90,666 approximately 1 per 8,000 females suffer from fragile X syndrome, Genetics Home Reference website
Hemophilia approx 1 in 13,600 or 0.01% or 20,000 people in USA 20,000 20,000 people in the United States (NHLBI)
Progressive Spinobulbar muscular atrophy N/A N/A No information
Protanopia approx 1 in 100 or 1.00% or 2.7 million people in USA 2,720,000 about 1% of white males
Red-green color blindness approx 1 in 20 or 5.00% or 13.6 million people in USA 13,600,000 about 10% of males
Wiskott-Aldrich Syndrome N/A N/A No information
X-Linked Agammaglobulinemia approx 1 in 100,000 or 0.00% or 2,720 people in USA 2,720 1-in-100,000
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 approx 1 in 20,000 or 0.00% or 13,600 people in USA 13,599 1 per 20,000 people suffer from X-linked adrenoleukodystrophy, Genetics Home reference website
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 rare
Autoimmune Lymphoproliferative Syndrome N/A N/A very rare; NIAID mentions 58 individuals
Batten Disease N/A N/A No information
Canavan disease approx 1 in 6,400 or 0.02% or 42,500 people in USA 42,500 1 per 6,400 - 13,500 people of Ashkenazi Jewish heritage suffer from Canavan disease, Genetics Home Reference website
Charcot-Marie-Tooth Disorder approx 1 in 1,813 or 0.06% or 150,000 people in USA 150,000 150,000 people are affected by Charcot-Marie-Tooth disease in the US, Genetics Home Reference website
Chronic Granulomatous Disease approx 1 in 4,000,000 or 0.00% or 67 people in USA 67 1-in-4 million to 5 million (NIAID)
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 approx 1 in 250,000 or 0.00% or 1,087 people in USA 1,087 estimated 1 per 250,000 people suffer from the vascular type of Ehlers-Danlos syndrome, Genetics Home Reference website
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 approx 1 in 50,000 or 0.00% or 5,440 people in USA 5,440 1 per 50,000 - 100,000 people are affected by Gaucher disease, Genetics Home Reference website
GSS (Gerstmann Sträussler Syndrome) N/A N/A No information
Hallervorden-Spatz disease N/A N/A rare
Hereditary Spastic Paraplegia N/A N/A No information
Heritable Disorders of Connective Tissue approx 1 in 272 or 0.37% or 1 million people in USA 999,999 estimated 1 million people in USA with heritable connective tissue disorder (NIAMS)
Hyper-IgM Syndrome N/A N/A No information
Hyperkalemic periodic paralysis approx 1 in 200,000 or 0.00% or 1,360 people in USA 1,360 1 per 200,000 people are affected by hyperkalemic periodic paralysis, Genetics Home Reference website
Hypokalemic periodic paralysis approx 1 in 100,000 or 0.00% or 2,720 people in USA 2,720 1 per 100,000 people suffer from hypokalemic periodic paralysis, Genetics Home Reference website
Infantile Refsum Disease N/A N/A No information
Joubert Syndrome N/A N/A rare
Lesch-Nyhan syndrome approx 1 in 380,000 or 0.00% or 715 people in USA 715 1 per 380,000 people are affected by Lesch-Nyhan syndrome worldwide, Genetics Home Reference website
Metachromatic Leukodystrophy N/A N/A No information
Mobius syndrome N/A N/A rare
Multiple endocrine neoplasia N/A N/A No information
Multiple endocrine neoplasia type 1 approx 1 in 33,333 or 0.00% or 8,160 people in USA 8,160 3 per 100,000 up to 20 per 100,000 (NIDDK)
Multiple endocrine neoplasia type 2 approx 1 in 300 or 0.33% or 906,666 people in USA 906,666 about 1 per 300 000 people suffer from multiple endocrine neoplasia type 1 in the US, Genetics Home Reference website
Multiple endocrine neoplasia type 3 N/A N/A No information
Myotonic Dystrophy N/A N/A Type I myotonic dystrophy accounts for 98% of all cases of myotonic dystrophy, Genetics Home Reference website
Neonatal ALD N/A N/A No information
Neurofibromatosis N/A N/A No information
Neurofibromatosis-1 approx 1 in 3,000 or 0.03% or 90,666 people in USA 90,666 1 per 3,000 - 4,000 people suffer from neurofibromatosis type 1 worldwide, Genetics Home Reference website
Niemann-Pick disease N/A N/A No information
Osteogenesis imperfecta approx 1 in 16,666 or 0.01% or 16,320 people in USA 27,199 6-7 per 100,000 people are affected by osteogenesis imperfecta worldwide, Genetics Home Reference website
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 per 10,000 - 15,000 newborns are diagnosed with phenylketonuria in the US, Genetics Home Reference website
Polycystic kidney disease approx 1 in 453 or 0.22% or 600,000 people in USA 600,000 600,000 Americans
Porphyria N/A N/A No information
Progeria N/A N/A over 100 cases of Hutchinson-Gilford progeria syndrome have been reported worldwide since 1886, Genetics Home Reference website
Refsum Disease N/A N/A No information
Retinoblastoma approx 1 in 33 or 3.00% or 8.2 million people in USA 8,160,000 3% of cancers in children under the age of 15 are due to retinoblastomas, Genetics Home Reference website
Rett's syndrome approx 1 in 10,000 or 0.01% or 27,200 people in USA 27,199 estimated 1 per 10,000 - 22,000 females suffer from Rett syndrome, Genetics Home Reference website
Sandhoff Disease N/A N/A rare
SCID approx 1 in 500,000 or 0.00% or 543 people in USA 543 approximately 1-per-500,000 (NIDCD); 1-per-million
Soto's Syndrome N/A N/A rare
Spinal Muscular Atrophy approx 1 in 6,000 or 0.02% or 45,333 people in USA 45,333 1 per 6,000 - 10,000 people suffer from spinal muscular atrophy, Genetics Home Reference website
Tuberous sclerosis approx 1 in 10,000 or 0.01% or 27,200 people in USA 27,199 less than 1 in 10,000
Von Willebrand disease approx 1 in 90 or 1.10% or 3 million people in USA 2,999,999 estimated 3 million mostly undiagnosed
Williams Syndrome approx 1 in 7,500 or 0.01% or 36,266 people in USA 36,266 estimated 1 per 7,500 - 20,000 people suffer from Williams syndrome, Genetics Home Reference website

Prevalence Statistics for Genetic Disease

Prevalance of Genetic Disease:

12 million Americans - unreliable estimate, (perhaps 2.5% births)


Prevalance Rate:

approx 1 in 22 or 4.41% or 12 million people in USA [about data]

Types of Genetic Disease

For more information about types of Genetic Disease, refer to our section on types of Genetic Disease.

About prevalence:

The medical term 'prevalence' of Genetic Disease usually refers to the estimated population of people who are managing Genetic Disease at any given time, whereas the annual diagnosis rate of new cases of Genetic Disease is called the 'incidence'. For more information on prevalence and incidence statistics, see about prevalence and incidence statistics.


 » Next page: Incidence of Types of Genetic Disease

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