Details of Disease

General Information of Disease (ID: DIS5GWU7)

Disease Name Oculotrichoanal syndrome
Synonyms
unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies; MANITOBA oculotrichoanal syndrome; MOTA; Manitoba Trichoanal syndrome; MOTA syndrome; Manitoba oculotrichoanal syndrome; Marles syndrome; Marles-Greenberg-Persaud syndrome
Disease Hierarchy
DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
DISYKSRF: Genetic disease
DIS5GWU7: Oculotrichoanal syndrome
Disease Identifiers
MONDO ID
MONDO_0009560
MESH ID
C536022
UMLS CUI
C1855425
OMIM ID
248450
MedGen ID
383680
Orphanet ID
2717
SNOMED CT ID
703539006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FRAS1 OTLPESF3 Strong Genetic Variation [1]
FREM2 OTEK6BZR Strong Biomarker [2]
FREM1 OTMHRV87 Definitive Autosomal recessive [3]
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References

1 Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.Am J Med Genet A. 2006 Sep 15;140(18):1909-14. doi: 10.1002/ajmg.a.31399.
2 Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet. 2005 May;37(5):520-5. doi: 10.1038/ng1549. Epub 2005 Apr 17.
3 Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. Am J Med Genet A. 2007 Apr 15;143A(8):853-7. doi: 10.1002/ajmg.a.31446.