This is a list of the most common genetic disorders in humans. If known, the type of mutation is shown, and the chromosome involved.
Many other conditions are known to be partly or wholly inherited, but their genetic basis is not yet clear. A good example is "clefting" (cleft lip and palate), which occurs up to 4 per 1000 in Native Americans and some Asian populations, but which is almost unknown in African populations.[1] About 20 genes are under investigation.[2][3]
Another important and common example is schizophrenia. Estimates of the heritability of schizophrenia are between 70% and 80%. This means 70% to 80% of the individual differences in risk to schizophrenia is associated with genetics.[4]
Disorder | Chromosome | Mutation |
---|---|---|
Angelman syndrome | 15 b | DCP |
Canavan disease | 17p | |
Charcot–Marie–Tooth disease | 17 | |
Color blindness | X | P |
Cri du chat syndrome | 5 | D |
Cystic fibrosis | 7q | P |
DiGeorge syndrome | 22q | D |
Down syndrome | 21 | C |
Duchenne muscular dystrophy | Xp | D |
Familial hypercholesterolemia | 19 | P |
Haemochromatosis type 1 | 6 | P |
Haemophilia / Hemophilia | X | P |
Klinefelter syndrome | X | C |
Neurofibromatosis | 17q/22q/? | |
Phenylketonuria | 12q | P |
Polycystic kidney disease | 16 (PKD1) or 4 (PKD2) | P |
Prader–Willi syndrome | 15 | DCP |
Sickle cell disease | 11p | P |
Spinal muscular atrophy | 5q | DP |
Tay–Sachs disease | 15 | P |
Turner syndrome | X | C |