Details of Disease

General Information of Disease (ID: DISX8MOE)

Disease Name Cone-rod dystrophy 3
Synonyms cone-rod dystrophy caused by mutation in ABCA4; cone-rod dystrophy type 3; cone-rod dystrophy 3; ABCA4 cone-rod dystrophy; CORD3
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene.
Disease Hierarchy
DISLEON6: ABCA4-related retinopathy
DISY9RWN: Cone-rod dystrophy
DISX8MOE: Cone-rod dystrophy 3
Disease Identifiers
MONDO ID
MONDO_0011395
MESH ID
C565827
UMLS CUI
C1858806
OMIM ID
604116
MedGen ID
349030

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ABCA4 TTLB52K Disputed CausalMutation [1]
CACNA1F TTJ0SO4 Strong Genetic Variation [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCA4 DTM4YG0 Definitive Autosomal recessive [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ABCA4 OTMA4IG9 Definitive Autosomal recessive [3]
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References

1 Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.PLoS One. 2018 Dec 21;13(12):e0205380. doi: 10.1371/journal.pone.0205380. eCollection 2018.
2 Clinical Characteristics, Mutation Spectrum, and Prevalence of land Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.Invest Ophthalmol Vis Sci. 2016 Dec 1;57(15):6861-6869. doi: 10.1167/iovs.16-19445.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.