Details of Disease

General Information of Disease (ID: DIS6YSS4)

Disease Name Retinitis pigmentosa 48
Synonyms retinitis pigmentosa caused by mutation in GUCA1B; GUCA1B retinitis pigmentosa; retinitis pigmentosa 48; RP48; retinitis pigmentosa type 48
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS6YSS4: Retinitis pigmentosa 48
Disease Identifiers
MONDO ID
MONDO_0013447
UMLS CUI
C3151190
OMIM ID
613827
MedGen ID
462540

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
GUCA1B OT85S0J3 Strong Autosomal dominant [1]
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References

1 Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. Graefes Arch Clin Exp Ophthalmol. 2005 Mar;243(3):235-42. doi: 10.1007/s00417-004-1015-7. Epub 2004 Sep 28.