List of genetic disorders
This is a list of the most common genetic disorders in humans. If known, the type of mutation is shown, and the chromosome involved.
- P – Point mutation, or any insertion/deletion entirely inside one gene
- D – Deletion of a gene or genes
- Dup - Duplication of a gene or genes
- C – Whole chromosome extra, missing, or both (see chromosomal aberrations)
- T – Trinucleotide repeat disorders: gene is extended in length
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]
Most common disorders
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 |
List Of Genetic Disorders Media
Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities. It shows dark and white regions as seen on G banding.
A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease
References
- ↑ See "Who is affected by cleft lip and cleft palate". Archived from the original on 2008-03-30. Retrieved 2008-06-20.
- ↑ Beaty T.H.; et al. (2011). "Evidence for gene-environment interaction in a genome wide study of isolated, non-syndromic cleft palate". Genet Epidemiol. 35 (6): 469–78. doi:10.1002/gepi.20595. PMC 3180858. PMID 21618603.
- ↑ FaceBase. (2012). Gene Wiki. Retrieved from https://www.facebase.org/resources/gene-wiki Archived 2012-08-15 at the Wayback Machine.
- ↑ van de Leemput J, Hess JL, Glatt SJ, Tsuang MT 2016. Genetics of schizophrenia: historical insights and prevailing evidence. Advances in Genetics. 96: 99–141. doi:10.1016/bs.adgen.2016.08.001. PMID 27968732. [1]