Details of Disease

General Information of Disease (ID: DIS70Y7U)

Disease Name Retinitis pigmentosa 41
Synonyms
RP 41; retinal Degeneration, autosomal recessive, prominin-related; RP41; retinitis pigmentosa caused by mutation in PROM1; retinitis pigmentosa type 41; PROM1 retinitis pigmentosa; retinitis pigmentosa 41
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS70Y7U: Retinitis pigmentosa 41
Disease Identifiers
MONDO ID
MONDO_0012796
MESH ID
C567422
UMLS CUI
C2677516
OMIM ID
612095
MedGen ID
383126

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
PROM1 TTXMZ81 Limited Biomarker [1]
PROM1 TTXMZ81 Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PROM1 OTBHV8NX Definitive Autosomal recessive [2]
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References

1 Loss of the cholesterol-binding protein prominin-1/CD133 causes disk dysmorphogenesis and photoreceptor degeneration.J Neurosci. 2009 Feb 18;29(7):2297-308. doi: 10.1523/JNEUROSCI.2034-08.2009.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.