| H00792 | |
| H番号 | H00792 |
| 名称 | ワールブルグ・ ミクロ症候群 |
| 概要 | Warburg micro syndrome (WARBM) is a rare, autosomal recessive condition characterized by congenital microcephaly, mental retardation, microcornea, cataracts, hypotonic diplegia and hypothalamic hypogonadism. The neurological manifestations including corpus callosum hypoplasia, cortical dystrophy, and microphthalmia are severe in Warburg micro syndrome. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (WARBM1) RAB3GAP1 [HSA:22930] [KO:K18270] (WARBM2) RAB3GAP2 [HSA:25782] [KO:K19937] (WARBM3) RAB18 [HSA:22931] [KO:K07910] (WARBM4) TBC1D20 [HSA:128637] [KO:K20372] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD20.1 ICD-10: Q04.3 MeSH: C536681 OMIM: 600118 614225 614222 615663 |
| 文献 | PMID:15216543 著者 Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D タイトル MICRO syndrome: an entity distinct from COFS syndrome. 雑誌 Am J Med Genet A 128A:235-45 (2004) DOI:10.1002/ajmg.a.30060 PMID:20512159 (RAB3GAP1) 著者 Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, Muller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Faes F タイトル New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. 雑誌 Eur J Hum Genet 18:1100-6 (2010) DOI:10.1038/ejhg.2010.79 PMID:20967465 (RAB3GAP2) 著者 Borck G, Wunram H, Steiert A, Volk AE, Korber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C タイトル A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. 雑誌 Hum Genet 129:45-50 (2011) DOI:10.1007/s00439-010-0896-2 PMID:21473985 (RAB18) 著者 Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Muller F, Maher ER, Barr FA, Aligianis IA タイトル Loss-of-function mutations in RAB18 cause Warburg micro syndrome. 雑誌 Am J Hum Genet 88:499-507 (2011) DOI:10.1016/j.ajhg.2011.03.012 PMID:24239381 (TBC1D20) 著者 Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ タイトル Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 雑誌 Am J Hum Genet 93:1001-14 (2013) DOI:10.1016/j.ajhg.2013.10.011 |