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.See  About 20 genes are under investigation.FaceBase. (2012). Gene Wiki. Retrieved from https://www.facebase.org/resources/gene-wiki .

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.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. 

 Most common disorders 
 Disorder Chromosome Mutation Angelman syndrome 15 b DCP Canavan disease 17p Charcot–Marie–Tooth disease17 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 DFamilial hypercholesterolemia19P Haemochromatosis type 1 6 PHaemophilia / 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 15DCP Sickle cell disease 11p P Spinal muscular atrophy 5q DP Tay–Sachs disease 15 P Turner syndrome X C

 References 

Category:Science-related lists
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