Details of Disease

General Information of Disease (ID: DIS4CYCX)

Disease Name Microcornea-myopic chorioretinal atrophy
Synonyms MMCAT; microcornea, myopic chorioretinal atrophy, and telecanthus; microcornea-myopic chorioretinal atrophy-telecanthus syndrome; microcornea-myopic chorioretinal atrophy; MMCAT syndrome
Disease Hierarchy
DISGGL77: Inherited retinal dystrophy
DIS4CYCX: Microcornea-myopic chorioretinal atrophy
Disease Identifiers
MONDO ID
MONDO_0014195
UMLS CUI
C3809567
OMIM ID
615458
MedGen ID
815897
Orphanet ID
369970

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
ADAMTS18 OTRMFI04 Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.