Details of Disease | DrugMAP

General Information of Disease (ID: DISX7FZJ)

Disease Name	Retinal macular dystrophy type 2
Synonyms	macular dystrophy, retinal, 2; MCDR2; macular dystrophy, retinal, type 2
Definition	Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.
Disease Hierarchy	DIS9K7AA: Macular dystrophy, retinal DISX7FZJ: Retinal macular dystrophy type 2
Disease Identifiers	MONDO ID MONDO_0011957 MESH ID C562746 UMLS CUI C4749334 OMIM ID 608051 MedGen ID 1666864 Orphanet ID 319640 SNOMED CT ID 770594005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PROM1	TTXMZ81	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PROM1	OTBHV8NX	Strong	Autosomal dominant	[1]
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References

1	Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest. 2008 Aug;118(8):2908-16. doi: 10.1172/JCI35891.