Disorders of nucleotide excision repair [DS:H00403]
Trichothiodystrophy (TTD) is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three TFIIH coding genes (ERCC2, ERCC3, and TTDA/GTF2H5) are implicated. Non-photosensitive trichothiodystrophy (TTDN) is characterized by short stature, intellectual impairment, sulfur-deficient brittle hair, and decreased male fertility but not cutaneous photosensitivity. Mutations in MPLKIP, RNF113A, and GTF2E2 have been reported.
Human diseases [BR:br08402]
Skin and soft tissue diseases
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Genetic and developmental disorders affecting the skin
EC21 Genetic defects of hair or hair growth
Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.