Details of Disease

General Information of Disease (ID: DISRRD6A)

• Disease Name: RPGR-related retinopathy
• Synonyms: cone dystrophy X-linked 1; X-linked cone-rod dystrophy 1; retinal ciliopathy due to mutation in the RPGR gene; retinitis pigmentosa type 3; cone-rod dystrophy, X-linked, type 1; cone-rod dystrophy X-linked 1; retinitis pigmentosa caused by mutation in RPGR; cone-rod degeneration, X-linked; macular degeneration, X-linked atrophic; cone-rod dystrophy, X-linked, 1; COD1; RP3; X-linked cone-rod dystrophy type 1; RPGR retinitis pigmentosa; CORDX1; retinitis pigmentosa 15; X-linked cone dystrophy 1; choroidoretinal degeneration with retinal reflex in heterozygous women; retinitis pigmentosa 3; cone dystrophy 1, X-linked; RPGR retinopathy
• Definition: A retinopathy caused by a variant in the X-linked gene, RPGR.
• Disease Hierarchy:
  DISGGL77: Inherited retinal dystrophy
  DISRRD6A: RPGR-related retinopathy

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RPGR	TTHBDA9	Definitive	X-linked	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RPGR	OTJ7O69I	Definitive	X-linked	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.