Dyskeratosis congenita
Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oral leukoplakia).
Associated Genes
| Gene Name | Chromosome number | BMRB Entries | PDB Entries |
|---|---|---|---|
| NHP2 | 5 | BMRB Entries | |
| TERT | 5 | BMRB Entries | PDB Entries |
| TINF2 | 14 | PDB Entries | |
| NOP10 | 15 | BMRB Entries |