| H00792 | |
| H number | H00792 |
| Name | Warburg micro syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (WARBM1) RAB3GAP1 [HSA:22930] [KO:K18270] (WARBM2) RAB3GAP2 [HSA:25782] [KO:K19937] (WARBM3) RAB18 [HSA:22931] [KO:K07910] (WARBM4) TBC1D20 [HSA:128637] [KO:K20372] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD20.1 ICD-10: Q04.3 MeSH: C536681 OMIM: 600118 614225 614222 615663 |
| Reference | PMID:15216543 AUTHORS Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D TITLE MICRO syndrome: an entity distinct from COFS syndrome. JOURNAL Am J Med Genet A 128A:235-45 (2004) DOI:10.1002/ajmg.a.30060 PMID:20512159 (RAB3GAP1) AUTHORS 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 TITLE New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. JOURNAL Eur J Hum Genet 18:1100-6 (2010) DOI:10.1038/ejhg.2010.79 PMID:20967465 (RAB3GAP2) AUTHORS Borck G, Wunram H, Steiert A, Volk AE, Korber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C TITLE A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. JOURNAL Hum Genet 129:45-50 (2011) DOI:10.1007/s00439-010-0896-2 PMID:21473985 (RAB18) AUTHORS 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 TITLE Loss-of-function mutations in RAB18 cause Warburg micro syndrome. JOURNAL Am J Hum Genet 88:499-507 (2011) DOI:10.1016/j.ajhg.2011.03.012 PMID:24239381 (TBC1D20) AUTHORS 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 TITLE Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. JOURNAL Am J Hum Genet 93:1001-14 (2013) DOI:10.1016/j.ajhg.2013.10.011 |