Marinesco-Sjogren Syndrome malady
Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Mental diseases categories
Aliases & Descriptions for Marinesco-Sjogren Syndrome:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Mental diseases
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
OMIM:49 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 cataract and myopathy, 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.
Genetics Home Reference:23 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.
UniProtKB/Swiss-Prot:67 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.
Wikipedia:68 Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive disorder. more...
GeneReviews summary for mss
Diseases in the Marinesco-Sjogren Syndrome family:
Diseases related to Marinesco-Sjogren Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 21)
Graphical network of the top 20 diseases related to Marinesco-Sjogren Syndrome:
Symptoms by clinical synopsis from OMIM:248800
Clinical features from OMIM:248800
Symptoms:51 (show all 27)
HPO human phenotypes related to Marinesco-Sjogren Syndrome:(show all 55)
MalaCards organs/tissues related to Marinesco-Sjogren Syndrome:33
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.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet