Details of Disease

General Information of Disease (ID: DISEFWLD)

Disease Name Vitelliform macular dystrophy 5
Synonyms VMD5; macular dystrophy, vitelliform, type 5; vitelliform macular dystrophy caused by mutation in IMPG2; IMPG2 vitelliform macular dystrophy; macular dystrophy, vitelliform, 5
Definition Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.
Disease Hierarchy
DISPYJN2: Adult-onset foveomacular vitelliform dystrophy
DISEFYYN: Vitelliform macular dystrophy
DISULKCV: IMPG2-related dominant retinopathy
DISEFWLD: Vitelliform macular dystrophy 5
Disease Identifiers
MONDO ID
MONDO_0014509
UMLS CUI
C4015343
OMIM ID
616152
MedGen ID
863780

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
IMPG2 OTFPSJ0T Definitive Autosomal dominant [1]
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References

1 ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT. Retin Cases Brief Rep. 2021 Jul 1;15(4):356-358. doi: 10.1097/ICB.0000000000000824.