{"orpha":330050,"name":"DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Encephalopathy due to mitochondrial and peroxisomal fission defect","url":"https://raremap.alftech.space/d/ORPHA-330050/","orphanet_url":"https://www.orpha.net/en/disease/detail/330050","names":{"fr":{"name":"Encéphalopathie par défaut de fission mitochondriale et peroxysomale associée à DNM1L","synonyms":["Encéphalopathie par défaut de fission des mitochondries et peroxysomes associée à DNM1L"]},"de":{"name":"Enzephalopathie durch mitochondrialen und peroxisomalen Teilungsdefekt, DNM1L-assoziiert"},"es":{"name":"Encefatalopatía por un defecto en la fisión mitocondrial y peroxisomal asociada a DNM1L"},"it":{"name":"Encefalopatia letale da difetto della fissione dei mitocondri e dei perossisomi"},"nl":{"name":"DNM1L-gerelateerde encefalopathie door defect van mitochondriale en peroxisomale deling"},"pt":{"name":"Encefalopatia DNM1L-relacionada devida a defeitos de fissão mitocondrial e peroxissomal"},"pl":{"name":"Śmiertelna encefalopatia spowodowana wadą rozszczepiania mitochondrialnego i peroksysomalnego"},"cs":{"name":"Letální encefalopatie způsobená mitochondriální a peroxisomální poruchou štěpení"},"uk":{"name":"Енцефалопатія, повязана з DNM1L, зумовлена дефектом мітохондріального та пероксисомного поділу"},"zh":{"name":"线粒体和过氧化物酶体裂变缺陷所致DNM1L相关脑病"},"tr":{"name":"Mitokondriyal ve peroksizomal fisyon defektine bağlı DNM1L -ilişkili ensefalopati"}},"xrefs":[{"source":"OMIM","code":"614388","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C5Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"ICD-11","code":"LD2E","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013726","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280660","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":527276,"name":"Encephalopathy due to mitochondrial and peroxisomal fission defect","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"DNM1L","name":"dynamin 1 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"17460227[PMID]","hgnc":"2973","ensembl":"ENSG00000087470","omim":"603850","loci":["12p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"17460227[PMID]_26825290[PMID]_26992161[PMID]_26604000[PMID]_27145208[PMID]_30109270[PMID]_27328748[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17460227[PMID]_26825290[PMID]_26992161[PMID]_26604000[PMID]_27145208[PMID]_30109270[PMID]_27328748[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-05","source":"30850373[PMID]_26604000[PMID]_27145208[PMID]","terms":[{"hpo":"HP:0012103","label":"Abnormality of the mitochondrion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012707","label":"Elevated brain lactate level by MRS","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012569","label":"Delayed menarche","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010553","label":"Oculogyric crisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}