KEGG   DISEASE: 裂毛症
エントリ  
H00866                                                             
名称    
裂毛症
  上位グループ
ヌクレオチド除去修復機構異常疾患 [DS:H00403]
概要    
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.
カテゴリ  
皮膚疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  皮膚の遺伝性及び発達性疾患
   EC21  毛髪または発毛の遺伝子異常
    H00866  裂毛症
パスウェイに基づく疾患分類 [BR:jp08402]
 複製と修復
  nt06502  ヌクレオチド除去修復
   H00866  裂毛症
パスウェイ 
hsa03022  Basal transcription factors
hsa03420  Nucleotide excision repair
ネットワーク
nt06502 Nucleotide excision repair
病因遺伝子 
(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]
(TTD8) AARS1 [HSA:16] [KO:K01872]
(TTD9) MARS1 [HSA:4141] [KO:K01874]
リンク   
ICD-11: EC21.1
MeSH: D054463
OMIM: 601675 616390 616395 234050 300953 616943 618546 619691 619692
文献    
PMID:9195225 (ERCC2)
  著者
Takayama K, Danks DM, Salazar EP, Cleaver JE, Weber CA
  タイトル
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.
  雑誌
文献    
PMID:9012405 (ERCC3)
  著者
Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taieb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A
  タイトル
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
  雑誌
Am J Hum Genet 60:320-9 (1997)
文献    
PMID:15220921 (GTF2H5)
  著者
Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W
  タイトル
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
  雑誌
Nat Genet 36:714-9 (2004)
DOI:10.1038/ng1387
文献    
PMID:15645389 (MPLKIP)
  著者
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
  タイトル
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
  雑誌
Am J Hum Genet 76:510-6 (2005)
DOI:10.1086/428141
文献    
PMID:25612912 (RNF113A)
  著者
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
  タイトル
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
  雑誌
J Med Genet 52:269-74 (2015)
DOI:10.1136/jmedgenet-2014-102418
文献    
PMID:26996949 (GTF2E2)
  著者
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
  タイトル
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
  雑誌
Am J Hum Genet 98:627-42 (2016)
DOI:10.1016/j.ajhg.2016.02.008
文献    
PMID:31374204 (TARS1)
  著者
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
  タイトル
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
  雑誌
Am J Hum Genet 105:434-440 (2019)
DOI:10.1016/j.ajhg.2019.06.017
文献    
PMID:33909043 (AARS1 MARS1)
  著者
Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, Accadia M, Lombardi A, Smith DEC, Mendes MI, Swagemakers SMA, van der Spek PJ, Salomons GS, Hoeijmakers JHJ, Yesodharan D, Nampoothiri S, Ogi T, Lehmann AR, Orioli D, Vermeulen W
  タイトル
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
  雑誌
Hum Mol Genet 30:1711-1720 (2021)
DOI:10.1093/hmg/ddab123
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