KEGG   DISEASE: Trichothiodystrophy
Entry
H00866                      Disease                                
Name
Trichothiodystrophy
  Supergrp
Disorders of nucleotide excision repair [DS:H00403]
Description
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.
Category
Skin disease
Brite
Human diseases [BR:br08402]
 Skin diseases
  Skin and soft tissue diseases
   H00866  Trichothiodystrophy
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
    H00866  Trichothiodystrophy
Related
pathway
hsa03022  Basal transcription factors
hsa03420  Nucleotide excision repair
Gene
(TTD1) ERCC2 [HSA:2068] [KO:K10844]
(TTD2) ERCC3 [HSA:2071] [KO:K10843]
(TTD3) GTF2H5 [HSA:404672] [KO:K10845]
(TTD4) MPLKIP [HSA:136647] [KO:K24575]
(TTD5) RNF113A [HSA:7737] [KO:K13127]
(TTD6) GTF2E2 [HSA:2961] [KO:K03137]
(TTD7) TARS1 [HSA:6897] [KO:K01868]
Other DBs
ICD-11: EC21.1
ICD-10: L67.8
MeSH: D054463
OMIM: 601675 616390 616395 234050 300953 616943 618546
Reference
  Authors
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
  Title
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
  Journal
Am J Hum Genet 76:510-6 (2005)
DOI:10.1086/428141
Reference
  Authors
Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gecz J, Field M
  Title
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
  Journal
J Med Genet 52:269-74 (2015)
DOI:10.1136/jmedgenet-2014-102418
Reference
  Authors
Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M
  Title
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
  Journal
Am J Hum Genet 98:627-42 (2016)
DOI:10.1016/j.ajhg.2016.02.008
Reference
  Authors
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
  Title
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
  Journal
Am J Hum Genet 105:434-440 (2019)
DOI:10.1016/j.ajhg.2019.06.017
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