Details of Disease

General Information of Disease (ID: DISAIJ7C)

Disease Name Retinitis pigmentosa 46
Synonyms retinitis pigmentosa, autosomal recessive, Idh3B-related; retinitis pigmentosa type 46; RP46; IDH3B retinitis pigmentosa; retinitis pigmentosa caused by mutation in IDH3B; retinitis pigmentosa 46
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.
Disease Hierarchy
DIS8Y13I: IDH3B-related retinopathy
DISCGPY8: Retinitis pigmentosa
DISAIJ7C: Retinitis pigmentosa 46
Disease Identifiers
MONDO ID
MONDO_0012943
MESH ID
C567249
UMLS CUI
C2675496
OMIM ID
612572
MedGen ID
382614

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
IDH3B OTR89YF5 Strong Autosomal recessive [1]
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References

1 Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. Nat Genet. 2008 Oct;40(10):1230-4. doi: 10.1038/ng.223. Epub 2008 Sep 21.