{"orpha":300755,"name":"Laminopathy with striated muscle involvement","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-300755/","orphanet_url":"https://www.orpha.net/en/disease/detail/300755","names":{"fr":{"name":"Laminopathie avec atteinte des muscles striés"},"de":{"name":"Laminopathie mit Beteiligung der quergestreiften Muskulatur"},"es":{"name":"Laminopatía con afectación del músculo estriado"},"it":{"name":"Laminopatia con coinvolgimento dei muscoli striati"},"nl":{"name":"Laminopathie met betrokkenheid van gestreepte spieren"},"pt":{"name":"Laminopatia com envolvimento muscular estriado"},"pl":{"name":"Laminopatia z zaangażowaniem mięśni poprzecznie prążkowanych"},"cs":{"name":"Laminopatie se složkou příčně pruhovaného svalstva"},"uk":{"name":"Ламінопатія із залученням посмугованих мязів"},"zh":{"name":"核纤层蛋白病累及横纹肌"},"tr":{"name":"Çizgili kas tutulumu ile seyreden laminopati"}},"xrefs":[{"source":"UMLS","code":"C5681083","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98301,"name":"Laminopathy","classifications":[156]}],"children":[{"orpha":98853,"name":"Autosomal dominant Emery-Dreifuss muscular dystrophy","type":"Etiological subtype"},{"orpha":98855,"name":"Autosomal recessive Emery-Dreifuss muscular dystrophy","type":"Etiological subtype"},{"orpha":157973,"name":"Congenital muscular dystrophy due to LMNA mutation","type":"Disease"},{"orpha":2229,"name":"Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome","type":"Malformation syndrome"},{"orpha":300751,"name":"Familial dilated cardiomyopathy with conduction defect due to LMNA mutation","type":"Disease"},{"orpha":168796,"name":"Heart-hand syndrome, Slovenian type","type":"Malformation syndrome"},{"orpha":217656,"name":"Inherited isolated arrhythmogenic cardiomyopathy","type":"Disease"},{"orpha":54260,"name":"Left ventricular noncompaction","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}