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:51
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: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 short-rib thoracic dysplasia 9 with or without polydactyly and marshall-smith syndrome, and has symptoms including cognitive impairment, aplasia/hypoplasia of the cerebellum and short stature. An important gene associated with Marinesco-Sjogren Syndrome is SIL1 (SIL1 Nucleotide Exchange Factor). Affiliated tissues include eye, bone and cerebellum, 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 NBK1192
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 53)
MalaCards organs/tissues related to Marinesco-Sjogren Syndrome:33
Eye, Bone, Cerebellum, Skeletal muscle, Breast, Placenta
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