KEGG   DISEASE: Menke-Hennekam 症候群
エントリ  
H02650                                                             
名称    
Menke-Hennekam 症候群
概要    
Menke-Hennekam syndrome (MKHK) is a novel syndrome caused by mutations in CREBBP and EP300. Although mutations in the same genes cause Rubinstein-Taybi syndrome [DS:H00504], MKHK patients didn't show the characteristics typical for Rubinstein-Taybi syndrome. The main characteristics of the MKHK are developmental delay, autistic behavior, short stature, and microcephaly.
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
    H02650  Menke-Hennekam 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06523  ポリコーム複合体によるエピジェネティック制御
   H02650  Menke-Hennekam 症候群
パスウェイ 
hsa04330  Notch signaling pathway
hsa04068  FoxO signaling pathway
ネットワーク
nt06523 Epigenetic regulation by Polycomb complexes
病因遺伝子 
(MKHK1) CREBBP [HSA:1387] [KO:K04498]
(MKHK2) EP300 [HSA:2033] [KO:K04498]
リンク   
ICD-11: LD2F.1Y
OMIM: 618332 618333
文献    
PMID:29460469 (CREBBP and EP300)
  著者
Menke LA, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC
  タイトル
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
  雑誌
Am J Med Genet A 176:862-876 (2018)
DOI:10.1002/ajmg.a.38626
文献    
PMID:30737887 (CREBBP)
  著者
Angius A, Uva P, Oppo M, Persico I, Onano S, Olla S, Pes V, Perria C, Cuccuru G, Atzeni R, Serra G, Cucca F, Sotgiu S, Hennekam RC, Crisponi L
  タイトル
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
  雑誌
Am J Med Genet A 179:634-638 (2019)
DOI:10.1002/ajmg.a.61052
LinkDB    

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