Details of Disease

General Information of Disease (ID: DISSLQPP)

• Disease Name: Retinitis pigmentosa 1
• Synonyms: retinitis pigmentosa; RP; retinitis pigmentosa caused by mutation in RP1; RP1 retinitis pigmentosa; retinitis pigmentosa type 1; RP1; retinitis pigmentosa 1
• Definition: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene.
• Disease Hierarchy:
  DISCGPY8: Retinitis pigmentosa
  DISSLQPP: Retinitis pigmentosa 1
• Disease Identifiers:
  MONDO ID: MONDO_0008377
  UMLS CUI: C0220701
  OMIM ID: 180100
  MedGen ID: 67395

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IMPDH1	TT3GRLK	Limited	Biomarker	[1]
RPGR	TTHBDA9	Limited	Biomarker	[2]
SCN3A	TTAXZ0K	Limited	Biomarker	[3]
FGFR2	TTGJVQM	Strong	Therapeutic	[4]
GRIN2B	TTN9D8E	Strong	Biomarker	[5]
NGF	TTDN3LF	Strong	Biomarker	[6]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MT2A	DEFKGT7	Strong	Biomarker	[7]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARHGAP26	OTNGQU7A	Limited	Biomarker	[3]
MYO1D	OTP2RGPN	Limited	Altered Expression	[3]
PMPCA	OT5X1G9Q	Limited	Genetic Variation	[8]
PRPH2	OTNH2G5H	Limited	Biomarker	[9]
RP1L1	OTRKSQWQ	Limited	Biomarker	[10]
AIFM1	OTKPWB7Q	Strong	Therapeutic	[11]
CLRN1	OT1ADI7Q	Strong	Biomarker	[12]
KL	OTD4VWU6	Strong	Biomarker	[13]
RP1	OTDDT69Y	Definitive	Autosomal dominant	[14]

References

• [1] Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.Mol Vis. 2008 Jun 14;14:1105-13.
• [2] The retinal ciliopathies.Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424.
• [3] Isobaric Tags for Relative and Absolute Quantitation-Based Proteomic Analysis of Patent and Constricted Ductus Arteriosus Tissues Confirms the Systemic Regulation of Ductus Arteriosus Closure.J Cardiovasc Pharmacol. 2015 Aug;66(2):204-13. doi: 10.1097/FJC.0000000000000266.
• [4] Two animal models of retinal degeneration are rescued by recombinant adeno-associated virus-mediated production of FGF-5 and FGF-18.Mol Ther. 2001 Apr;3(4):507-15. doi: 10.1006/mthe.2001.0289.
• [5] Alterations in NMDA receptor expression during retinal degeneration in the RCS rat.Vis Neurosci. 2001 Sep-Oct;18(5):781-7. doi: 10.1017/s0952523801185111.
• [6] Nerve growth factor in the developing and adult lacrimal glands of rat with and without inherited retinitis pigmentosa.Cornea. 2010 Oct;29(10):1163-8. doi: 10.1097/ICO.0b013e3181d3d3f9.
• [7] Altered expression of metallothionein-I and -II and their receptor megalin in inherited photoreceptor degeneration.Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4809-20. doi: 10.1167/iovs.09-5073. Epub 2010 Mar 31.
• [8] Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.Ann Neurol. 1994 Apr;35(4):439-44. doi: 10.1002/ana.410350411.
• [9] Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.Mol Vis. 2012;18:2398-410. Epub 2012 Sep 25.
• [10] Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.Mol Vis. 2003 Apr 24;9:129-37.
• [11] Inhibitory peptide of mitochondrial -calpain protects against photoreceptor degeneration in rhodopsin transgenic S334ter and P23H rats.PLoS One. 2013 Aug 9;8(8):e71650. doi: 10.1371/journal.pone.0071650. eCollection 2013.
• [12] Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.Am J Hum Genet. 2002 Sep;71(3):607-17. doi: 10.1086/342098. Epub 2002 Jul 16.
• [13] Retinitis Pigmentosa: over-expression of anti-ageing protein Klotho in degenerating photoreceptors.J Neurochem. 2013 Dec;127(6):868-79. doi: 10.1111/jnc.12353. Epub 2013 Jul 22.
• [14] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.