KEGG   DISEASE: 鰓弓異常・後鼻孔閉鎖症・無乳頭・難聴及び甲状腺機能低下症候群
エントリ  
H02943                                                             
名称    
鰓弓異常・後鼻孔閉鎖症・無乳頭・難聴及び甲状腺機能低下症候群
概要    
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is a novel multiple malformations syndrome caused by missense mutations in KMT2D. KMT2D encodes a protein that catalyzes the methylation of the lysine 4 on histone 3 (H3K4) in a multiprotein complex. Although many KMT2D variants have been reported in the literature in individuals with Kabuki syndrome type 1 [DS:H00570], BCAHH is clinically and epigenetically distinct from Kabuki syndrome.
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
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02943  鰓弓異常・後鼻孔閉鎖症・無乳頭・難聴及び甲状腺機能低下症候群
病因遺伝子 
KMT2D [HSA:8085] [KO:K09187]
リンク   
ICD-11: LD2F.1Y
OMIM: 620186
文献    
PMID:31949313
  著者
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S, Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S
  タイトル
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
  雑誌
Genet Med 22:867-877 (2020)
DOI:10.1038/s41436-019-0743-3
文献    
PMID:32083401
  著者
Baldridge D, Spillmann RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK
  タイトル
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
  雑誌
Am J Med Genet A 182:1053-1065 (2020)
DOI:10.1002/ajmg.a.61518
LinkDB    

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