{"orpha":559,"name":"Marinesco-Sjögren syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autosomal recessive disorder characterized by cerebellar ataxia, early-onset bilateral cataracts, chronic myopathy; additional features are delayed motor development and variable intellectual disability, hypergonadotrophic hypogonadism and delayed puberty, and short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-559/","orphanet_url":"https://www.orpha.net/en/disease/detail/559","names":{"fr":{"name":"Syndrome de Marinesco-Sjögren","definition":"Maladie autosomique récessive rare caractérisée par une ataxie cérébelleuse, des cataractes bilatérales précoces, une myopathie chronique&nbsp;; les autres caractéristiques sont un retard du développement moteur et une déficience intellectuelle de degré variable, un hypogonadisme hypogonadotrope et un retard de la puberté, ainsi qu'une petite taille."},"de":{"name":"Marinesco-Sjögren-Syndrom","definition":"Eine seltene autosomal-rezessive Erkrankung, die durch zerebelläre Ataxie, früh auftretende bilaterale Katarakte und chronische Myopathie gekennzeichnet ist; weitere Merkmale sind eine verzögerte motorische Entwicklung und variable Intelligenzminderung, hypergonadotropher Hypogonadismus und verzögerte Pubertät sowie Kleinwuchs."},"es":{"name":"Síndrome de Marinesco-Sjogren","definition":"Es un trastorno autosómico recesivo poco frecuente caracterizado por ataxia cerebelosa, cataratas en ambos ojos de inicio precoz y miopatía de curso crónico. Otras características son retraso psicomotor con distintos grados de discapacidad intelectual, hipogonadismo hipergonadotrófico, retraso puberal y talla baja."},"it":{"name":"Sindrome di Marinesco-Sjögren"},"nl":{"name":"Syndroom van Marinesco-Sjögren","definition":"Een zeldzame autosomaal recessieve aandoening, gekenmerkt door cerebellaire ataxie, vroeg optredend bilateraal cataract, en chronische myopathie; bijkomende kenmerken zijn vertraagde motorische ontwikkeling en variabele intellectuele achterstand, hypergonadotroop hypogonadisme en uitgestelde puberteit, en kleine gestalte."},"pt":{"name":"Síndrome Marinesco-Sjögren","definition":"Doença autossómica recessiva rara caracterizada por ataxia cerebelar, catarata bilateral de início precoce, miopatia crónica; características adicionais são atraso no desenvolvimento motor e perturbação do desenvolvimento intelectual variável, hipogonadismo hipergonadotrófico e puberdade tardia, além de baixa estatura."},"pl":{"name":"Zespół Marinesco i Sjögrena"},"cs":{"name":"Marinescův-Sjögrenův syndrom","synonyms":["Marinesco-Sjögrenův syndrom"]},"uk":{"name":"Синдром Марінеско-Шогрена","definition":"A rare autosomal recessive disorder characterized by cerebellar ataxia, early-onset bilateral cataracts, chronic myopathy; additional features are delayed motor development and variable intellectual disability, hypergonadotrophic hypogonadism and delayed puberty, and short stature."},"zh":{"name":"Marinesco-Sj÷gren综合征"},"tr":{"name":"Marinesco-Sjögren sendromu"}},"xrefs":[{"source":"OMIM","code":"248800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1130919107"},{"source":"MONDO","code":"0009567","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024814","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8341","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98098,"name":"Autosomal recessive degenerative and progressive cerebellar ataxia","classifications":[156,181]},{"orpha":207028,"name":"Cerebellar ataxia with peripheral neuropathy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":98574,"name":"Syndromic epicanthus","classifications":[147,156,189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"SIL1","name":"SIL1 nucleotide exchange factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301371[PMID]_16650075[PMID]","hgnc":"24624","ensembl":"ENSG00000120725","omim":"608005","loci":["5q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-18","source":null,"terms":[{"hpo":"HP:0012400","label":"Abnormal aldolase level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045040","label":"Abnormal lactate dehydrogenase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002334","label":"Abnormality of the cerebellar vermis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001460","label":"Aplasia/Hypoplasia involving the skeletal musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010508","label":"Metatarsus valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010547","label":"Muscle flaccidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null}]}}