Details of Disease

General Information of Disease (ID: DISTIKZB)

Disease Name Retinitis pigmentosa 25
Synonyms RP 25; retinitis pigmentosa caused by mutation in EYS; retinitis pigmentosa 25; RP25; EYS retinitis pigmentosa; retinitis pigmentosa type 25
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene.
Disease Hierarchy
DISRKR4Z: EYS-related retinopathy
DISCGPY8: Retinitis pigmentosa
DISTIKZB: Retinitis pigmentosa 25
Disease Identifiers
MONDO ID
MONDO_0011272
MESH ID
C566425
UMLS CUI
C1864446
OMIM ID
602772
MedGen ID
350427

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ELOVL4 OT2M9W26 Strong Biomarker [1]
ELOVL5 OT375W1Z Strong Biomarker [2]
LGSN OTQG5Z82 Strong Biomarker [2]
PHF3 OTNOYLG9 Strong Genetic Variation [3]
SMAP1 OTQN3BVL Strong Biomarker [2]
EYS OT0NBPL5 Definitive Autosomal recessive [4]
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⏷ Show the Full List of 6 DOT(s)

References

1 Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):248-55.
2 Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa.Int J Mol Med. 2005 Dec;16(6):1163-7.
3 Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.Mol Vis. 2015 Jul 17;21:783-92. eCollection 2015.
4 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.