Details of Disease

General Information of Disease (ID: DISA5CNX)

Disease Name Vitelliform macular dystrophy 4
Synonyms VMD4; macular dystrophy, vitelliform, 4; vitelliform macular dystrophy caused by mutation in IMPG1; IMPG1 vitelliform macular dystrophy; macular dystrophy, vitelliform, type 4
Definition Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.
Disease Hierarchy
DISPYJN2: Adult-onset foveomacular vitelliform dystrophy
DISEFYYN: Vitelliform macular dystrophy
DISA5CNX: Vitelliform macular dystrophy 4
Disease Identifiers
MONDO ID
MONDO_0014508
UMLS CUI
C4015342
OMIM ID
616151
MedGen ID
863779

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
IMPG1 OT12HBL0 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.