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Prevalence Statistics for Types of Autosomal Genetic Diseases

Prevalence Statistics for Types of Autosomal Genetic Diseases

The information below shows a list of types of Autosomal Genetic Diseases, 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
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
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

Types of Autosomal Genetic Diseases

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

About prevalence:

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


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