H00686 | |
H number | H00686 |
Name | Manitoba oculotrichoanal syndrome |
Description | Manitoba oculotrichoanal (MOTA) syndrome is a rare condition characterized by aberrant anterior hairline, upper-eyelid colobomas, hypertelorism, cryptophthalmos, a bifid or notched nose, and anal anomalies. MOTA syndrome is inherited in an autosomal recessive manner. |
Category | Congenital malformation |
Network | - |
Gene | FREM1 [HSA:158326] [KO:K23380] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C536022 OMIM: 248450 |
Reference | PMID:17352387 AUTHORS Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE TITLE Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. JOURNAL Am J Med Genet A 143A:853-7 (2007) DOI:10.1002/ajmg.a.31446 PMID:21507892 AUTHORS Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M TITLE Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. JOURNAL J Med Genet 48:375-82 (2011) DOI:10.1136/jmg.2011.089631 PMID:20301721 AUTHORS Li C, Slavotinek A, Chudley AE TITLE Manitoba Oculotrichoanal Syndrome JOURNAL GeneReviews (1993) |