Genetic diseases sorted by frequency

Disease class: Congenital, Hereditary, and Neonatal diseases and abnormalities
Medical specialty: Medical genetics

 

Frequency greater than 1 in 1,000:

• Gilbert syndrome (frequency: 3 in 100)
• Hereditary haemochromatosis (frequency: 1 in 200) 
• Autosomal dominant polycystic kidney disease (frequency: 1 in 500) 
• Familial hypercholesterolemia (frequency: 1 in 500)  
• Hypertrophic cardiomyopathy (prevalence: 1 in 500)
• Klinefelter syndrome (47, XXY) (frequency: 1 in 500 male births) 
• Trisomy 21 (Down syndrome) (frequency: 1 in 800) 
• Sickle cell disease (frequency: 112 in 100,000)  

 

Frequency greater than 1 in 5,000:

• Ambiguous genitalia (frequency: 1 in 1000)  
• Hereditary hearing loss (frequency: 1 in 1000 births)
• Noonan syndrome (frequency: 1 in 1000) 
• Triple X syndrome (47,XXX) (frequency: 1 in 1000 female births)  
• Glucose-6-phosphate dehydrogenase deficiency (400mil cases worldwide, i.e. 4 per 7700) 
• Romano-Ward syndrome (frequency: 1 in 2000)

• X-linked ichthyosis (frequency: 1 in male 2000 births)

• Cystic fibrosis (frequency: 1 in 2500 births)
• Turner syndrome (45,X0) (frequency: 1 in 2500 female births)
• DiGeorge syndrome (frequency: 1 in 3000)
• Neurofibromatosis 1 (frequency: 1 in 3000)
• Charcot-Marie-Tooth disease (frequency: 1 in 3300)
• Duchenne muscular dystrophy (frequency: 1 in 3500 male births)
• Retinitis pigmentosa (frequency: 1 in 3500 births)
• Haemophilia A (frequency: 1 in 4000 males) 
• Congenital hypothyroidism (frequency: 1 in 4000)
• Fragile X syndrome (frequency: 1 in 4000 males, 1 in 8000 females) 

 

Frequency greater than 1 in 10,000:

• Trisomy 18 (Edwards syndrome) (frequency: 1 in 5000 births) 
• Marfan syndrome (frequency: 1 in 5,000)
• Hypermobile Ehlers-Danlos syndrome (frequency: 1 in 5,000)
• Williams syndrome (frequency: 1 in 7,500)  
• Spinal muscular atrophy (frequency: 1 in 8,000)  
• Myotonic dystrophy type 1 (frequency: 1 in 8,000) 
• Familial adenomatous polyposis (frequency: 1 in 8,300) 
• Rett syndrome (frequency: 1 in 9000 female births)

 

Frequency 1 in 10,000 or lower:

• Autosomal dominant multiple epiphyseal dysplasia (frequency: 1 in 10,000) 
• Phenylketonuria (PKU) (frequency: 1 in 10,000 births) 
• alpha-Thalassaemia (frequency: 1 in 10,000 births)
• Prader–Willi syndrome (frequency: 1 in 10,000) 
• Angelman syndrome (frequency: 1 in 12,000) 
• 21-hydroxylase deficiency (frequency: 1 in 12,000) 
• Beckwith–Wiedemann syndrome (frequency: 1 in 13,700) 
• Cri du chat syndrome (frequency: 1 in 15,000)
• Trisomy 13 syndrome (Patau syndrome) (frequency: 1 in 16,000) 
• Osteogenesis imperfecta (frequency: 6 in 100,000) 
• Huntington's disease (frequency: 5.7 in 100,000) 
• Achondroplasia (frequency: 1 in 20,000)
• Haemophilia B (frequency: 1 in 20,000 males)
• Autosomal recessive polycystic kidney disease (frequency: 1 in 20,000) 
• Multiple endocrine neoplasia type 1 (frequency: 1 in 20,000) 
• Autosomal dominant osteopetrosis (frequency: 1 in 20,000) 
• Neurofibromatosis 2 (frequency: 1 in 25,000)
• Wilson's disease (frequency: 1 in 30,000) 
• Galactosaemia (frequency: 1 in 30,000)  
• Microcephaly (frequency: 1 in 30,000)  
• Multiple endocrine neoplasia type 2 (frequency: 1 in 35,000) 
• Ataxia telangiectasia (frequency: 1 in 40,000)  
• Waardenburg syndrome (frequency: 1 in 42,000) 
• Von Hippel-Lindau disease (frequency: 1 in 45,500 births)  
• Peutz-Jeghers syndrome (frequency: 1 in 50,000) 
• X-linked severe combined immunodeficiency (SCID) (frequency: 1 in 50,000) 
• Hereditary spastic paraplegias (frequency: 2 in 100,000)
• Gaucher disease (frequency: 1 in 50,000) 
• Alport syndrome (frequency: 1 in 50,000) 
• Silver–Russell syndrome (frequency: 1 in 50,000)  

 

Frequency 1 in 100,000 or lower:

• beta-Thalassaemia major (frequency: 1 in 100,000)
• Glycogen storage disease type I (Von Gierke Disease) (frequency: 1 in 100,000) 
• McCune-Albright syndrome (frequency: 1 in 100,000) 
• Epidermolysis bullosa (frequency: 8 in 1,000,000)  
• Wiskott-Aldrich syndrome (frequency: 1 in 100,000)
• Fanconi anaemia (frequency: 1 in 160,000) 
• Jervell and Lange-Nielsen syndrome (frequency: 1 in 200,000) 
• Tay-Sachs disease (frequency: 1 in 360,000) 

 

Unclear global incidence / prevalence

• Alexander disease (leukodystrophy) (about 500 recorded cases) 
• Hyper-IgE syndromes (can be autosomal dominant or autosomal recessive) (about 250 recorded cases) 
• Familial mediterranean fever (prevalence is 1 in 200 in certain populations: Sephardic (non-Ashkenazi) Jewish, Armenian, Arab and Turkish heritage).
• Klippel-Trenaunay Syndrome (about 1000 recorded cases) 

• Progeria (155 known patients worldwide)