エントリ 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 ]jp08402 ] パスウェイ ネットワーク nt06523 Epigenetic regulation by Polycomb complexes
nt06549 Cadherin signaling
病因遺伝子 リンク 文献 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 文献 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 LinkDB All DBs
