List of genetic disorders
- P – Point mutation, or any insertion/deletion entirely inside one gene
- D – Deletion 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. About 20 genes are under investigation.
Most common disorders[change | change source]
|Angelman syndrome||15 b||DCP|
|Cri du chat syndrome||5||D|
|Duchenne muscular dystrophy||Xp||D|
|Haemochromatosis type 1||6||P|
|Haemophilia / Hemophilia||X||P|
|Polycystic kidney disease||16 (PKD1) or 4 (PKD2)||P|
|Sickle cell disease||11p||P|
|Spinal muscular atrophy||5q||DP|
References[change | change source]
- 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.