Photosensitive trichothiodystrophy

rare

A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway

Identifiers: MONDO:0002470 Orphanet:453
Part of: DNA repair disease Radiation-induced disorder Trichothiodystrophy
Also known as: Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature · trichothiodystrophy with congenital ichtyosis

Subtypes

Disease	ID	Genes
Trichothiodystrophy 1, photosensitive	MONDO:0011125	ERCC2
Trichothiodystrophy 2, photosensitive	MONDO:0014615	ERCC3
Trichothiodystrophy 3, photosensitive	MONDO:0014619	GTF2H5

Including projects on subtypes.

No projects yet.