Manitoba oculotrichoanal syndrome

Preferred Label : Manitoba oculotrichoanal syndrome;

Symbol : MOTA;

CISMeF acronym : MOTA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Marles syndrome;

Description : Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance was assumed because of consanguinity in the Oji-Cre population of Manitoba in which the syndrome was first described (summary by Slavotinek et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FRAS1-related extracellular matrix protein 1 gene (FREM1, 608944.0004);

Prefixed ID : #248450;

Details

Origin ID

248450;

UMLS CUI

C1855425;

Currated CISMeF NLP mapping
- Manitoba oculotrichoanal syndrome (disorder) [SNOMED CT concept]
- Marles Greenberg Persaud syndrome [MeSH concept]
- Oculotrichoanal syndrome [ORDO Disease]
- marles greenberg persaud syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Fras1-related extracellular matrix protein 1 [OMIM gene]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Anal stenosis [HPO term]
- Anophthalmia [HPO term]
- Anophthalmia, clinical [HPO term]
- Anteriorly placed anus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Eyelid coloboma [HPO term]
- Hypertelorism [HPO term]
- Microphthalmia [HPO term]
- Microphthalmia, extreme [HPO term]
- Nasolacrimal duct obstruction [HPO term]
- Omphalocele [HPO term]
ORDO concept(s)
- Oculotrichoanal syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Manitoba oculotrichoanal syndrome (disorder) [SNOMED CT concept]
- Marles Greenberg Persaud syndrome [MeSH concept]
- Oculotrichoanal syndrome [ORDO Disease]
- marles greenberg persaud syndrome [MeSH Supplementary Concept]

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