List of genetic disorders facts for kids
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
- 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
Disorder | Mutation or gene | Chromosome |
---|---|---|
22q11.2 deletion syndrome | D | 22q |
Angelman syndrome | DCP | 15 |
Canavan disease | ASPA | 17p |
Coeliac disease | DQ2.5 | 6 |
Charcot–Marie–Tooth disease | MFN2 | 17 |
Color blindness | P | X |
Cri du chat | D | 5 |
Cystic fibrosis | P | 7q |
Down syndrome | C | 21 |
Duchenne muscular dystrophy | D | Xp |
Haemochromatosis | P | 6 |
Haemophilia | P | X |
Joubert syndrome | 21 different loci | |
Klinefelter syndrome | C | X |
Neurofibromatosis | NF1/NF2 | 17q/22q/? |
Phenylketonuria | P | 12q |
Polycystic kidney disease | P | 16 (PKD1) or 4 (PKD2) |
DC | 15 | |
Sickle-cell disease | P | 11p |
Tay–Sachs disease | P | 15 |
β-Thalassaemia | HBB | 11 |
Turner syndrome | C | X |
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List of genetic disorders Facts for Kids. Kiddle Encyclopedia.