Details of Disease

General Information of Disease (ID: DIST5BD5)

Disease Name Patterned dystrophy of the retinal pigment epithelium
Disease Hierarchy
DISEYSYY: Hereditary macular dystrophy
DIST5BD5: Patterned dystrophy of the retinal pigment epithelium
Disease Identifiers
MONDO ID
MONDO_0018973
MESH ID
C536309
UMLS CUI
C1868569
MedGen ID
357005
Orphanet ID
63454

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 Strong Biomarker [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.