KEGG   DISEASE: Manitoba oculotrichoanal syndromeHelp
Entry
H00686                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00686  Manitoba oculotrichoanal syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00686  Manitoba oculotrichoanal syndrome
BRITE hierarchy
Gene
FREM1 [HSA:158326] [KO:K23380]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: C536022
OMIM: 248450
Reference
  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
Reference
  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
Reference
  Authors
Li C, Slavotinek A, Chudley AE
  Title
Manitoba Oculotrichoanal Syndrome
  Journal
GeneReviews (1993)
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