Details of Disease | DrugMAP

General Information of Disease (ID: DIS1F1U3)

Disease Name	MRCS syndrome
Synonyms	microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome
Definition	MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.
Disease Hierarchy	DISGGL77: Inherited retinal dystrophy DIS1F1U3: MRCS syndrome
Disease Identifiers	MONDO ID MONDO_0016979 UMLS CUI C4749856 MedGen ID 1666962 Orphanet ID 263347 SNOMED CT ID 771342004

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
ARL2	TTIDSFT	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BEST1	OTWHE1ZC	Supportive	Autosomal dominant	[2]
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References

1	Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.Clin Genet. 2019 Jul;96(1):61-71. doi: 10.1111/cge.13541. Epub 2019 Apr 22.
2	Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550.