Details of Disease | DrugMAP

General Information of Disease (ID: DISL84CF)

Disease Name	Macular degeneration, X-linked atrophic
Synonyms	macular degeneration, X-linked atrophic; macular degeneration, X-linked atrophic, X-linked recessive
Disease Hierarchy	DISRRD6A: RPGR-related retinopathy DISY9RWN: Cone-rod dystrophy DISL84CF: Macular degeneration, X-linked atrophic
Disease Identifiers	MONDO ID MONDO_0010443 UMLS CUI C3151784 OMIM ID 300834 MedGen ID 463134

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
RPGR	TTHBDA9	Limited	X-linked	[1]
RPGR	TTHBDA9	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

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

1	X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics. 2002 Aug;80(2):166-71. doi: 10.1006/geno.2002.6815.
2	X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.Ophthalmology. 1998 Dec;105(12):2286-96. doi: 10.1016/S0161-6420(98)91231-3.