Details of Disease

General Information of Disease (ID: DISTLR67)

Disease Name Retinitis pigmentosa 45
Synonyms retinitis pigmentosa type 45; retinitis pigmentosa caused by mutation in CNGB1; RP45; CNGB1 retinitis pigmentosa; retinitis pigmentosa 45
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISC2X5N: CNGB1-related retinopathy
DISTLR67: Retinitis pigmentosa 45
Disease Identifiers
MONDO ID
MONDO_0013413
UMLS CUI
C3151066
OMIM ID
613767
MedGen ID
462416

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL11A1 OTB0DRMS Strong Biomarker [1]
CNGB1 OTA5DE38 Definitive Autosomal recessive [2]
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References

1 A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.Hum Mol Genet. 1996 Sep;5(9):1339-43. doi: 10.1093/hmg/5.9.1339.
2 Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa. JAMA Ophthalmol. 2018 Jul 1;136(7):761-769. doi: 10.1001/jamaophthalmol.2018.1621.