This section presents information about the death rate statistics
for the various types of Genetic Disease.
Disease | Death Rate Estimate | US deaths estimate | Statistic Used for Calculation |
| 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 |
540,000 Americans approximately (90% of PKD)
|
| Machado-Joseph Disease |
N/A |
N/A |
rare
|
| Marfan syndrome |
N/A |
N/A |
1 per 5,000 people are affected by Marfan syndrome worldwide, Genetics Home Reference website
|
| MODY diabetes |
N/A |
N/A |
No information
|
| Otosclerosis |
N/A |
N/A |
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 |
N/A |
N/A |
estimated 7 per 100,000 people have Coffin-Lowry syndrome in western Europe and North America, Genetics Home Reference website
|
| Incontinentia Pigmenti |
N/A |
N/A |
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 |
N/A |
N/A |
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 |
1 per 31,000 Asian American newborns suffer from cystic fibrosis in the US, genetics Home Reference website |
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 |
estimated 1 per 1,000 Hispanic Americans are affected by sickle cell disease in the US, Genetics Home Reference website |
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 people with Cooley's anemia (NHLBI) |
1,000 people with Cooley's anemia (NHLBI)
|
| Usher Syndrome |
N/A |
N/A |
16,000 Americans
|
| 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 |
about 1% of white males
|
| Duchenne Muscular Dystrophy |
N/A |
N/A |
No information
|
| Fragile-X Syndrome |
N/A |
N/A |
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 people in the United States (NHLBI) |
20,000 people in the United States (NHLBI)
|
| Progressive Spinobulbar muscular atrophy |
N/A |
N/A |
No information
|
| Protanopia |
N/A |
N/A |
about 1% of white males
|
| Red-green color blindness |
N/A |
N/A |
about 10% of males
|
| Wiskott-Aldrich Syndrome |
N/A |
N/A |
No information
|
| X-Linked Agammaglobulinemia |
N/A |
N/A |
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 |
N/A |
N/A |
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 |
N/A |
N/A |
1 per 6,400 - 13,500 people of Ashkenazi Jewish heritage suffer from Canavan disease, Genetics Home Reference website
|
| Charcot-Marie-Tooth Disorder |
N/A |
N/A |
150,000 people are affected by Charcot-Marie-Tooth disease in the US, Genetics Home Reference website
|
| Chronic Granulomatous Disease |
N/A |
N/A |
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 |
N/A |
N/A |
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 |
N/A |
N/A |
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 |
N/A |
N/A |
estimated 1 million people in USA with heritable connective tissue disorder (NIAMS)
|
| Hyper-IgM Syndrome |
N/A |
N/A |
No information
|
| Hyperkalemic periodic paralysis |
N/A |
N/A |
1 per 200,000 people are affected by hyperkalemic periodic paralysis, Genetics Home Reference website
|
| Hypokalemic periodic paralysis |
N/A |
N/A |
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 |
N/A |
N/A |
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 |
N/A |
N/A |
3 per 100,000 up to 20 per 100,000 (NIDDK)
|
| Multiple endocrine neoplasia type 2 |
N/A |
N/A |
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 |
N/A |
N/A |
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 |
N/A |
N/A |
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 |
N/A |
N/A |
1 per 10,000 - 15,000 newborns are diagnosed with phenylketonuria in the US, Genetics Home Reference website
|
| Polycystic kidney disease |
N/A |
N/A |
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 |
N/A |
N/A |
3% of cancers in children under the age of 15 are due to retinoblastomas, Genetics Home Reference website
|
| Rett's syndrome |
N/A |
N/A |
estimated 1 per 10,000 - 22,000 females suffer from Rett syndrome, Genetics Home Reference website
|
| Sandhoff Disease |
N/A |
N/A |
rare
|
| SCID |
N/A |
N/A |
approximately 1-per-500,000 (NIDCD); 1-per-million
|
| Soto's Syndrome |
N/A |
N/A |
rare
|
| Spinal Muscular Atrophy |
N/A |
N/A |
1 per 6,000 - 10,000 people suffer from spinal muscular atrophy, Genetics Home Reference website
|
| Tuberous sclerosis |
N/A |
N/A |
less than 1 in 10,000
|
| Von Willebrand disease |
N/A |
N/A |
estimated 3 million mostly undiagnosed
|
| Williams Syndrome |
N/A |
N/A |
estimated 1 per 7,500 - 20,000 people suffer from Williams syndrome, Genetics Home Reference website
|