Details of Disease

General Information of Disease (ID: DISKD4ND)

Disease Name Retinal cone dystrophy 4
Synonyms RCD4; retinal cone dystrophy 4; retinal cone dystrophy type 4; CACNA2D4 cone dystrophy; cone dystrophy caused by mutation in CACNA2D4
Definition Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.
Disease Hierarchy
DIS7SAZZ: Cone dystrophy
DISY9RWN: Cone-rod dystrophy
DIS0O0H2: CACNA2D4-related retinopathy
DISKD4ND: Retinal cone dystrophy 4
Disease Identifiers
MONDO ID
MONDO_0012507
UMLS CUI
C1864849
OMIM ID
610478
MedGen ID
355308

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
CACNA2D4 OTVYNX7N Strong Autosomal recessive [1]
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References

1 Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet. 2006 Nov;79(5):973-7. doi: 10.1086/508944. Epub 2006 Sep 27.