{"orpha":178145,"name":"Moderate multiminicore disease with hand involvement","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Multiminicore myopathy","url":"https://raremap.alftech.space/d/ORPHA-178145/","orphanet_url":"https://www.orpha.net/en/disease/detail/178145","names":{"fr":{"name":"Myopathie à multi-minicores modérée avec atteinte des mains"},"de":{"name":"Moderate Multiminicore-Krankheit mit Beteiligung der Hand"},"es":{"name":"Miopatía de multiminicores moderada con afectación de manos"},"it":{"name":"Malattia multiminicore attenuata con interessamento della mano"},"nl":{"name":"Matige multi-minicore ziekte met betrokkenheid van hand"},"pt":{"name":"Doença multiminicore moderada com envolvimento da mão"},"pl":{"name":"Umiarkowana choroba multiminicore z zaangażowaniem rąk"},"cs":{"name":"Středně těžká multi-mini core nemoc s postižením rukou"},"uk":{"name":"Помірно виражена мультимініядерна хвороба із залученням кисті руки"},"zh":{"name":"中度多轴空病累及手部"},"tr":{"name":"El tutulumu ile seyreden orta dereceli multiminicore hastalığı"}},"xrefs":[{"source":"OMIM","code":"117000","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1297824145"},{"source":"MONDO","code":"0015793","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566147","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861753","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":598,"name":"Multiminicore myopathy","classifications":[156,181]},{"orpha":98742,"name":"Neurological muscular channelopathy due to a genetic ryanodine receptor defect","classifications":[156,181]}],"children":[],"genes":[{"symbol":"RYR1","name":"ryanodine receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301467[PMID]_12112081[PMID]","hgnc":"10483","ensembl":"ENSG00000196218","omim":"180901","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-11","source":"11079538[PMID]","terms":[{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012391","label":"Hyporeflexia of upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004976","label":"Knee dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005001","label":"Recurrent patellar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Occasional (29-5%)","criteria":null}]}}