Details of Disease

General Information of Disease (ID: DIS4A0KN)

Disease Name Newfoundland cone-rod dystrophy
Synonyms Newfoundland ROD-cone dystrophy; NFRCD; cone-rod dystrophy caused by mutation in RLBP1; RLBP1 cone-rod dystrophy
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.
Disease Hierarchy
DISY9RWN: Cone-rod dystrophy
DIS5F8BY: RLBP1-related retinopathy
DIS4A0KN: Newfoundland cone-rod dystrophy
Disease Identifiers
MONDO ID
MONDO_0011839
MESH ID
C564391
UMLS CUI
C1843815
OMIM ID
607476
MedGen ID
334840

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
RLBP1 OTCY4D6B Strong Autosomal recessive [1]
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References

1 Visual cycle impairment in cellular retinaldehyde binding protein (CRALBP) knockout mice results in delayed dark adaptation. Neuron. 2001 Mar;29(3):739-48. doi: 10.1016/s0896-6273(01)00248-3.