{"orpha":171433,"name":"Intermediate nemaline myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171433/","orphanet_url":"https://www.orpha.net/en/disease/detail/171433","names":{"fr":{"name":"Myopathie némaline intermédiaire","definition":"La myopathie à némaline intermédiaire est une forme de myopathie à némaline (MN) dont les signes néonataux sont ceux de la MN typique mais dont l'évolution est plus sévère."},"de":{"name":"Nemalin-Myopathie, intermediäre","definition":"Die intermediäre Nemalin-Myopathie, eine Form der Nemalin-Myopathie (NM; siehe dort), ist gekennzeichnet durch Merkmale der typischen Nemalin-Myopathie (NM; s. dort) bei Neugeborenen, aber mit stärkerer Progredienz."},"es":{"name":"Miopatía nemalínica intermedia","definition":"La miopatía nemalínica intermedia es un tipo de miopatía nemalínica (NM; consulte este término) que muestra características de la NM típica (consulte este término) en neonatos con una progresión más grave."},"it":{"name":"Miopatia nemalinica di grado intermedio","definition":"La miopatia nemalinica intermedia è una forma di miopatia nemalinica (NM; si veda questo termine), caratterizzata dai segni della NM tipica (si veda questo termine), ad esordio neonatale, con una progressione più grave."},"nl":{"name":"Intermediaire nemaline myopathie","definition":"Intermediaire nemalinemyopathie is een vorm van nemalinemyopathie (NM; zie deze term) die kenmerken vertoont van typische NM (zie deze term) bij neonaten met een ernstigere progressie."},"pt":{"name":"Miopatia nemalínica intermédia"},"pl":{"name":"Średniozaawansowana miopatia nemalinowa"},"cs":{"name":"Středně těžká nemalinová myopatie"},"uk":{"name":"Помірно виражена немалінова міопатія","definition":"Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression."},"zh":{"name":"中间型杆状体肌病","definition":"中度先天性杆状体肌病是一种严重的杆状体肌病（NM；见该术语），与病情更严重的新生儿经典型NM（见该术语）临床表现一致。"},"tr":{"name":"Orta nemalin miyopati"}},"xrefs":[{"source":"OMIM","code":"161800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"256030","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609284","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615731","qualifier":"BTNT","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":"1667070006"},{"source":"MONDO","code":"0015736","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680452","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12823","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":209059,"name":"Qualitative or quantitative defects of alpha-actin","classifications":[156]},{"orpha":209182,"name":"Qualitative or quantitative defects of nebulin","classifications":[156]},{"orpha":284790,"name":"Qualitative or quantitative defects of tropomyosin","classifications":[156]}],"children":[],"genes":[{"symbol":"KLHL41","name":"kelch like family member 41","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24268659[PMID]","hgnc":"16905","ensembl":"ENSG00000239474","omim":"607701","loci":["2q31.1"]},{"symbol":"ACTA1","name":"actin alpha 1, skeletal muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"129","ensembl":"ENSG00000143632","omim":"102610","loci":["1q42.13"]},{"symbol":"NEB","name":"nebulin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7720","ensembl":"ENSG00000183091","omim":"161650","loci":["2q23.3"]},{"symbol":"TPM3","name":"tropomyosin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18382475[PMID]","hgnc":"12012","ensembl":"ENSG00000143549","omim":"191030","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","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"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-16","source":"22431881[PMID]_24268659[PMID]_20554445[PMID]_25205138[PMID]_11333380[PMID]","terms":[{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003798","label":"Nemaline bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005855","label":"Multiple prenatal fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002058","label":"Myopathic facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Excluded (0%)","criteria":null}]}}