DISEASE: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
Entry
H02794 Disease
Name
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
Description
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (MRCS) syndrome is a rare genetic retinal dystrophy disorder. It has been reported that mutations in ARL2 cause MRCS syndrome. ARL2 encodes a GTPase belonging to the RAS superfamily. It was indicated that ARL2 plays a role in microtubule dynamics, which would be involved in determination of cell shape, cell division, intracellular transport, and cell motility.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD21 Syndromes with eye anomalies as a major feature
H02794 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
Cai XB, Wu KC, Zhang X, Lv JN, Jin GH, Xiang L, Chen J, Huang XF, Pan D, Lu B, Lu F, Qu J, Jin ZB
Title
Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
