KEGG   DISEASE: Manitoba oculotrichoanal syndrome
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 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
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06548  Integrin signaling
   H00686  Manitoba oculotrichoanal syndrome
Pathway
hsa04518 Integrin signaling   
Network
nt06548 Integrin signaling
Gene
FREM1 [HSA:158326] [KO:K23380]
Other DBs
ICD-11: LD2F.1Y
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
Reference
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
Reference
PMID:20301721
  Authors
Li C, Slavotinek A, Chudley AE
  Title
Manitoba Oculotrichoanal Syndrome
  Journal
GeneReviews (1993)
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