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Marinesco-Sjogren syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.
Uniprot Description Autosomal recessive multisystem disorder which is characterized by cerebellar ataxia due to cerebellar atrophy, with Purkinje and granule cell loss and myopathy featuring marked muscle replacement with fat and connective tissue. Other cardinal features include bilateral cataracts, hypergonadotrophic hypogonadism and mild to severe mental retardation. Skeletal abnormalities, short stature, dysarthria, strabismus and nystagmus are also frequent findings. Mutational inactivation of this protein may result in ER stress-induced cell death signaling or malfunctioning chaperone machineries that mishandle client proteins which are critical for the organs targeted in MSS.
Disease Ontology Description An autosomal recessive disease characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
Mondo Term and Equivalent IDs
MONDO:0009567:  Marinesco-Sjogren syndrome
GARD:0008341: 
Orphanet:559: 
SCTID:80734006: 
UMLS:C0024814: