Trichothiodystrophy

rare

Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins).

Identifiers: MONDO:0018053 Orphanet:33364
Part of: Ectodermal dysplasia syndrome
Also known as: trichothiodystrophy syndrome

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Photosensitive trichothiodystrophy	MONDO:0002470	3
Trichothiodystrophy 4, nonphotosensitive	MONDO:0021013		MPLKIP
Trichothiodystrophy 5, nonphotosensitive	MONDO:0010495		RNF113A
Trichothiodystrophy 6, nonphotosensitive	MONDO:0014841		GTF2E2
Trichothiodystrophy 7, nonphotosensitive	MONDO:0032806		TARS1
Trichothiodystrophy 8, nonphotosensitive	MONDO:0030517
Trichothiodystrophy 9, nonphotosensitive	MONDO:0030518

Rare disease

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