Details of Disease

General Information of Disease (ID: DISP4RA9)

Disease Name Patterned macular dystrophy 2
Synonyms
macular dystrophy, butterfly-Shaped pigmentary, 2; macular dystrophy, patterned, 2; patterned macular dystrophy caused by mutation in CTNNA1; MDPT2; butterfly-shaped pigmentary maculary dystrophy 2; macular dystrophy, patterned, type 2; CTNNA1 patterned macular dystrophy; patterned macular dystrophy type 2
Definition Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.
Disease Hierarchy
DISWIXVD: Patterned macular dystrophy
DISP4RA9: Patterned macular dystrophy 2
Disease Identifiers
MONDO ID
MONDO_0012162
MESH ID
C536309
UMLS CUI
C1837029
OMIM ID
608970
MedGen ID
332348

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
CTNNA1 OTFC725Z Definitive Autosomal dominant [1]
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References

1 Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat Genet. 2016 Feb;48(2):144-51. doi: 10.1038/ng.3474. Epub 2015 Dec 21.