Details of Disease

General Information of Disease (ID: DIS90SAO)

Disease Name Retinitis pigmentosa 12
Synonyms
RP 12; RP with or without preserved Paraarteriole retinal pigment epithelium; retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium; RP with or without Pprpe; retinitis pigmentosa caused by mutation in CRB1; retinitis pigmentosa type 12; retinitis pigmentosa 12; CRB1 retinitis pigmentosa; RP12; retinitis pigmentosa-12
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS90SAO: Retinitis pigmentosa 12
Disease Identifiers
MONDO ID
MONDO_0010818
MESH ID
C563999
UMLS CUI
C1838647
OMIM ID
600105
MedGen ID
374019

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CACNA1S TT94HRF Strong Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PITPNM3 OTHLZY8D Strong Genetic Variation [2]
CRB1 OTXYUNG0 Definitive Autosomal recessive [3]
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References

1 Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC).Cytogenet Cell Genet. 1996;73(1-2):81-5. doi: 10.1159/000134313.
2 Analysis of peripherin/RDS gene for Japanese retinal dystrophies.Jpn J Ophthalmol. 1998 May-Jun;42(3):186-92. doi: 10.1016/s0021-5155(97)00133-0.
3 Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study. Ophthalmology. 2017 Jun;124(6):884-895. doi: 10.1016/j.ophtha.2017.01.047. Epub 2017 Mar 21.