Details of Disease

General Information of Disease (ID: DISJMMTE)

Disease Name X-linked cone-rod dystrophy 3
Synonyms cone-rod dystrophy X-linked 3; cone-rod dystrophy, X-linked, 3; CORDX3; cone-rod dystrophy, X-linked, type 3; cone-rod dystrophy, X-linked, 3, X-linked recessive; X-linked cone-rod dystrophy type 3
Disease Hierarchy
DISRZHHN: CACNA1F-related retinopathy
DIS0RL6N: X-linked cone-rod dystrophy
DISJMMTE: X-linked cone-rod dystrophy 3
Disease Identifiers
MONDO ID
MONDO_0010335
MESH ID
C564507
UMLS CUI
C1845407
OMIM ID
300476
MedGen ID
336932

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
CACNA1F TTJ0SO4 Strong X-linked [1]
CACNA1F TTJ0SO4 Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CACNA1F OTQTXNGF Strong X-linked [1]
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References

1 X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J Med Genet. 2006 Aug;43(8):699-704. doi: 10.1136/jmg.2006.040741. Epub 2006 Feb 27.
2 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30.