Details of Disease

General Information of Disease (ID: DISZFSXG)

Disease Name Cone-rod dystrophy 21
Synonyms retinal dystrophy with early macular involvement; CORD21; cone-rod dystrophy type 21; cone-rod dystrophy caused by mutation in DRAM2; cone-rod dystrophy 21; DRAM2 cone-rod dystrophy
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.
Disease Hierarchy
DISY9RWN: Cone-rod dystrophy
DISZFSXG: Cone-rod dystrophy 21
Disease Identifiers
MONDO ID
MONDO_0014669
UMLS CUI
C4049066
OMIM ID
616502
MedGen ID
891534
HPO ID
HP:0030635

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
DRAM2 OTBOCZH8 Strong Autosomal recessive [1]
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References

1 Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14.