| Disease |
Some clinical features |
Mutant genes |
|---|---|---|
| Xeroderma Pigmentosum (XP) |
sun sensitivity, 10,000X increase skin cancer, XP neurologic disease (some patients, especially XP-A) |
XPA-G, V |
| Cockayne Syndrome (CS) |
sun sensitivity, no skin cancer, CS neurologic disease, progeriod features, growth defects |
CSA, CSB |
| XP/CS complex | sun sensitivity, increased skin cancer, CS neurologic disease |
XPB, XPD, XPG |
| Trichothiodystrophy (TTD) |
sun sensitivity (some patients), brittle hair, ichthyosis, TTD neurologic disease (neurodevelopmental and myelination abnormalities) |
XPD, TTDA, others? |
| UV-sensitive syndrome (UVsS) |
sun sensitivity, no increased skin cancer, no neurologic disease |
CSA, CSB, UVSSA |