Marinesco-Sjogren Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Mental diseases
Aliases & Descriptions for Marinesco-Sjogren Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Mental diseases
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
OMIM:50 Marinesco-Sjogren syndrome is an autosomal recessive disorder characterized primarily by congenital cataracts,... (248800) more...
MalaCards based summary: Marinesco-Sjogren Syndrome, also known as marinesco-sjögren syndrome, is related to short-rib thoracic dysplasia 9 with or without polydactyly and marshall-smith syndrome, and has symptoms including abnormality of the genital system, strabismus and cataract. An important gene associated with Marinesco-Sjogren Syndrome is SIL1 (SIL1 Nucleotide Exchange Factor). Affiliated tissues include eye, skeletal muscle and bone, and related mouse phenotype behavior/neurological.
UniProtKB/Swiss-Prot:68 Marinesco-Sjoegren syndrome: 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.
Genetics Home Reference:24 Marinesco-Sjögren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjögren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) and difficulty coordinating movements (ataxia), which may impair their ability to walk. People with Marinesco-Sjögren syndrome may experience further decline in muscle function later in life.
Wikipedia:69 Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive disorder. more...
GeneReviews summary for NBK1192
Diseases in the Marinesco-Sjogren Syndrome family:
Diseases related to Marinesco-Sjogren Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Marinesco-Sjogren Syndrome:
HPO human phenotypes related to Marinesco-Sjogren Syndrome:(show all 53)
UMLS symptoms related to Marinesco-Sjogren Syndrome:cerebellar ataxia, muscle spasticity, gait ataxia
MalaCards organs/tissues related to Marinesco-Sjogren Syndrome:34
Eye, Skeletal muscle, Bone, Cerebellum
Articles related to Marinesco-Sjogren Syndrome:
Clinvar genetic disease variations for Marinesco-Sjogren Syndrome:5 (show all 11)
Search GEO for disease gene expression data for Marinesco-Sjogren Syndrome.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet