The following is a list of genetic disorders and if known, causal type of mutation and the chromosome involved. The list of human genes includes genes not listed here, which also affect predisposition toward certain diseases.
- 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
More common disorders
| Disorder | Mutation | Chromosome |
|---|---|---|
| 22q11.2 deletion syndrome | D | 22q |
| Angelman syndrome | DCP | 15 |
| Canavan disease | 17p | |
| Coeliac disease | ||
| Charcot–Marie–Tooth disease | ||
| 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 |
| Klinefelter syndrome | C | X |
| Neurofibromatosis | 17q/22q/? | |
| Phenylketonuria | P | 12q |
| Polycystic kidney disease | P | 16 (PKD1) or 4 (PKD2) |
| Prader–Willi syndrome | DC | 15 |
| Sickle-cell disease | P | 11p |
| Tay–Sachs disease | P | 15 |
| Turner syndrome | C | X |
Read more about List Of Genetic Disorders: Full List
Famous quotes containing the words list of, list, genetic and/or disorders:
“The advice of their elders to young men is very apt to be as unreal as a list of the hundred best books.”
—Oliver Wendell Holmes, Jr. (1841–1935)
“A man’s interest in a single bluebird is worth more than a complete but dry list of the fauna and flora of a town.”
—Henry David Thoreau (1817–1862)
“What strikes many twin researchers now is not how much identical twins are alike, but rather how different they are, given the same genetic makeup....Multiples don’t walk around in lockstep, talking in unison, thinking identical thoughts. The bond for normal twins, whether they are identical or fraternal, is based on how they, as individuals who are keenly aware of the differences between them, learn to relate to one another.”
—Pamela Patrick Novotny (20th century)
“It no longer makes sense to speak of “feeding problems” or “sleep problems” or “negative behavior” is if they were distinct categories, but to speak of “problems of development” and to search for the meaning of feeding and sleep disturbances or behavior disorders in the developmental phase which has produced them.”
—Selma H. Fraiberg (20th century)