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:
“Religious literature has eminent examples, and if we run over our private list of poets, critics, philanthropists and philosophers, we shall find them infected with this dropsy and elephantiasis, which we ought to have tapped.”
—Ralph Waldo Emerson (1803–1882)
“I am opposed to writing about the private lives of living authors and psychoanalyzing them while they are alive. Criticism is getting all mixed up with a combination of the Junior F.B.I.- men, discards from Freud and Jung and a sort of Columnist peep- hole and missing laundry list school.... Every young English professor sees gold in them dirty sheets now. Imagine what they can do with the soiled sheets of four legal beds by the same writer and you can see why their tongues are slavering.”
—Ernest Hemingway (1899–1961)
“Man is not merely the sum of his masks. Behind the shifting face of personality is a hard nugget of self, a genetic gift.... The self is malleable but elastic, snapping back to its original shape like a rubber band. Mental illness is no myth, as some have claimed. It is a disturbance in our sense of possession of a stable inner self that survives its personae.”
—Camille Paglia (b. 1947)
“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)