Details of Disease | DrugMAP

General Information of Disease (ID: DISVJAI4)

Disease Name	Retinitis punctata albescens
Disease Hierarchy	DISNICY6: Fundus albipunctatus DISVJAI4: Retinitis punctata albescens
Disease Identifiers	MONDO ID MONDO_0018877 UMLS CUI C1405854 MedGen ID 278050 Orphanet ID 52427 SNOMED CT ID 715562001

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
TST	TT51OTS	Disputed	Genetic Variation	[1]
RHO	TTH0KSX	Strong	Genetic Variation	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
RDH5	DESI4OK	Strong	Biomarker	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ROM1	OTE7H0YV	Disputed	Biomarker	[4]
PRPH2	OTNH2G5H	Supportive	Autosomal dominant	[5]
RLBP1	OTCY4D6B	Supportive	Autosomal dominant	[6]
CLRN1	OT1ADI7Q	moderate	Genetic Variation	[7]
PRPH	OT6VUH78	moderate	Genetic Variation	[1]
LRAT	OTB7CJKY	Strong	Genetic Variation	[8]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DOT(s)

References

1	Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens.Biochem Biophys Res Commun. 1997 Feb 3;231(1):103-5. doi: 10.1006/bbrc.1997.6052.
2	Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference.Gene Ther. 2005 Aug;12(15):1223-8. doi: 10.1038/sj.gt.3302512.
3	Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. Chem Biol Interact. 2015 Jun 5;234:114-25.
4	Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. Am J Ophthalmol. 1996 Jan;121(1):19-25. doi: 10.1016/s0002-9394(14)70530-6.
5	A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet. 1993 Mar;3(3):208-12. doi: 10.1038/ng0393-208.
6	Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci. 1999 Apr;40(5):1000-4.
7	Usher syndrome type III can mimic other types of Usher syndrome.Ann Otol Rhinol Laryngol. 2003 Jun;112(6):525-30. doi: 10.1177/000348940311200608.
8	A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.Ophthalmology. 2012 Sep;119(9):1899-906. doi: 10.1016/j.ophtha.2012.02.037. Epub 2012 May 3.