Details of Disease

General Information of Disease (ID: DIS6TCKT)

Disease Name Choroidal dystrophy, central areolar 2
Synonyms
CACD2; macular dystrophy, progressive; PRPH2 central areolar choroidal dystrophy; choroidal dystrophy, central areolar 2; choroidal dystrophy, central areolar type 2; central areolar choroidal dystrophy caused by mutation in PRPH2
Definition Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.
Disease Hierarchy
DISWIF1T: Choroidal dystrophy
DIS6TCKT: Choroidal dystrophy, central areolar 2
Disease Identifiers
MONDO ID
MONDO_0013137
MESH ID
C567750
UMLS CUI
C2751290
OMIM ID
613105
MedGen ID
442696

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
PRPH2 OTNH2G5H Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 [Phenotypic variation in a family affected by autosomal dominant retinal dystrophy caused by the Gly208Asp mutation in the RDS peripherin gene]. Med Clin (Barc). 2002 May 18;118(18):716. doi: 10.1016/s0025-7753(02)72505-0.