KEGG   DISEASE: 外胚葉形成異常
エントリ  
H02456                                                             
名称    
外胚葉形成異常
  下位グループ
発汗低下を伴う先天性外胚葉形成異常 (ECTD1/10/11/12) [DS:H00651]
外胚葉形成異常 Clouston 型 (ECTD2) [DS:H00648]
ウィットコップ症候群 (ECTD3) [DS:H00643]
外胚葉形成異常 毛髪・爪型 (ECTD4/7/9/13) [DS:H00649]
顔異形および肢端、眼球、脳の異常を伴う外胚葉形成異常 (EDFAOB)
口唇口蓋裂-外胚葉形成異常症候群 (CLPED1)
概要    
Ectodermal dysplasias (ECTD) are a heterogeneous group of disorders characterized by a deficiency of ectodermally derived tissues, including hair, skin, teeth, and sweat glands. These conditions feature various combinations which demarcate the various subtypes.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD27  主な特徴として皮膚または粘膜の異常を伴う症候群
    H02456  外胚葉形成異常
病因遺伝子 
(ECTD14) TSPEAR [HSA:54084] [KO:K24437]
(EDFAOB) RHOA [HSA:387] [KO:K04513]
(CLPED1) NECTIN1 [HSA:5818] [KO:K06081]
リンク   
ICD-11: LD27.02
MeSH: D004476
OMIM: 618180 618727 225060
文献    
  著者
Yildirim M, Yorgancilar E, Gun R, Topcu I
  タイトル
Ectodermal dysplasia: otolaryngologic evaluation of 23 cases.
  雑誌
Ear Nose Throat J 91:E28-33 (2012)
DOI:10.1177/014556131209100221
文献    
PMID:27736875 (ECTD14)
  著者
Peled A, Sarig O, Samuelov L, Bertolini M, Ziv L, Weissglas-Volkov D, Eskin-Schwartz M, Adase CA, Malchin N, Bochner R, Fainberg G, Goldberg I, Sugawara K, Baniel A, Tsuruta D, Luxenburg C, Adir N, Duverger O, Morasso M, Shalev S, Gallo RL, Shomron N, Paus R, Sprecher E
  タイトル
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
  雑誌
PLoS Genet 12:e1006369 (2016)
DOI:10.1371/journal.pgen.1006369
文献    
PMID:31570889 (EDFAOB)
  著者
Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Genevieve D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Riviere JB
  タイトル
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
  雑誌
Nat Genet 51:1438-1441 (2019)
DOI:10.1038/s41588-019-0498-4
文献    
PMID:10932188 (CLPED1)
  著者
Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spritz RA
  タイトル
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.
  雑誌
Nat Genet 25:427-30 (2000)
DOI:10.1038/78119
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