Details of Disease

General Information of Disease (ID: DISLU7RF)

Disease Name Craniofacial anomalies and anterior segment dysgenesis syndrome
Synonyms CAASDS; craniofacial anomalies and anterior segment dysgenesis syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISLU7RF: Craniofacial anomalies and anterior segment dysgenesis syndrome
Disease Identifiers
MONDO ID
MONDO_0013618
UMLS CUI
C3280099
OMIM ID
614195
MedGen ID
481729

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VSX1 OTXAAYCI Limited Autosomal dominant [1]
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References

1 VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. Ophthalmology. 2004 Apr;111(4):828-36. doi: 10.1016/j.ophtha.2003.07.006.