{"orpha":98902,"name":"Amish nemaline myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A type of nemaline myopathy (NM) only observed in several families of the Amish community.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98902/","orphanet_url":"https://www.orpha.net/en/disease/detail/98902","names":{"fr":{"name":"Myopathie némaline type Amish","definition":"Forme de myopathie à némaline (MN) décrite uniquement dans plusieurs familles de la communauté Amish."},"de":{"name":"Nemalin-Myopathie Typ Amish","definition":"Der Typ Amish der Nemalin-Myopathie, eine Form der Nemalin-Myopathie (NM; s. dort), wurde ausschließlich in mehreren Familien der Amish Community gesehen."},"es":{"name":"Miopatía nemalínica tipo Amish","definition":"Es un tipo de miopatía nemalítica (MN) tan solo observada en varias familias de la comunidad Amish."},"it":{"name":"Miopatia nemalinica, tipo Amish","definition":"La miopatia nemalinica tipo Amish è una forma di miopatia nemalinica (NM; si veda questo termine) descritta esclusivamente in numerose famiglie della comunità Amish."},"nl":{"name":"Nemaline myopathie, Amish-type","definition":"Een type van nemalinemyopathie (NM) dat enkel wordt waargenomen bij verschillende families van de Amish-gemeenschap."},"pt":{"name":"Miopatia nemalínica, tipo Amish"},"pl":{"name":"Miopatia nemalinowa Amiszów"},"cs":{"name":"Nemalinová myopatie Amišů"},"uk":{"name":"Немалінова міопатія амішів","definition":"A type of nemaline myopathy (NM) only observed in several families of the Amish community."},"zh":{"name":"阿米什线状体肌病","definition":"该病是一种杆状肌病(NM)，仅在阿米什社区的几个家庭中被观察到。"},"tr":{"name":"Amish nemaline miyopatisi"}},"xrefs":[{"source":"OMIM","code":"605355","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"46578428"},{"source":"MONDO","code":"0011539","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854380","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8334","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":457074,"name":"Congenital nemaline myopathy","classifications":[156,181]},{"orpha":607,"name":"Nemaline myopathy","classifications":[156,181]},{"orpha":284786,"name":"Qualitative or quantitative defects of troponin","classifications":[156]}],"children":[],"genes":[{"symbol":"TNNT1","name":"troponin T1, slow skeletal type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10952871[PMID]","hgnc":"11948","ensembl":"ENSG00000105048","omim":"191041","loci":["19q13.42"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":200.0,"area":"Specific population","status":"Validated","source":"10952871[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-11","source":"10952871[PMID]_25712079[PMID]","terms":[{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003323","label":"Progressive muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007126","label":"Proximal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003044","label":"Shoulder flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}