{"orpha":644,"name":"NARP syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome","Neuropathy-ataxia-retinitis pigmentosa syndrome"],"definition":"A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-644/","orphanet_url":"https://www.orpha.net/en/disease/detail/644","names":{"fr":{"name":"Syndrome NARP","synonyms":["Syndrome de neuropathie-ataxie-rétinite pigmentaire"],"definition":"Maladie progressive cliniquement hétérogène caractérisée par la combinaison d'une faiblesse neurogénique des muscles proximaux, une neuropathie sensorimotrice, une ataxie et une rétinopathie pigmentaire."},"de":{"name":"NARP-Syndrom","synonyms":["Neuropathie - Ataxie - Retinitis pigmentosa"],"definition":"Eine klinisch heterogene, fortschreitende Erkrankung, die durch eine Kombination aus proximaler neurogener Muskelschwäche, sensorisch-motorischer Neuropathie, Ataxie und pigmentärer Retinopathie gekennzeichnet ist."},"es":{"name":"Síndrome de NARP","synonyms":["Debilidad muscular neurogénica-ataxia-retinosis pigmentaria","Neuropatía-ataxia-retinosis pigmentaria"],"definition":"Es una condición progresiva clínicamente heterogénea caracterizada por una combinación de debilidad muscular neurogénica proximal, neuropatía sensitivo-motora, ataxia y retinopatía pigmentaria."},"it":{"name":"Sindrome NARP","synonyms":["Debolezza muscolare neurogena - atassia - retinite pigmentosa","Neuropatia - atassia - retinite pigmentosa"],"definition":"Si tratta di una malattia progressiva, eterogenea dal punto di vista clinico, caratterizzata da debolezza neurogena dei muscoli prossimali, neuropatia sensitivo-motoria, atassia e retinite pigmentosa."},"nl":{"name":"NARP-syndroom","synonyms":["Neurogene spierzwakte - ataxie - retinitis pigmentosa-syndroom","Neuropathie - ataxie - retinitis pigmentosa-syndroom"],"definition":"Een klinisch heterogene, progressieve aandoening, gekarakteriseerd door een combinatie van proximale neurogene spierzwakte, sensomotorische neuropathie, ataxie, en pigmentretinopathie."},"pt":{"name":"Síndrome NARP","synonyms":["Síndrome Leigh mitocondrial","Síndrome MILS","Síndrome de neuropatia-ataxia-retinite pigmentosa"],"definition":"Uma condição progressiva e clinicamente heterogénea caracterizada por uma combinação de fraqueza muscular neurogénica proximal, neuropatia sensório-motora, ataxia e retinopatia pigmentar."},"pl":{"name":"Zespół NARP","synonyms":["Neurogenna słabość mięśni - ataksja - zwyrodnienie barwnikowe siatkówki","Neuropatia - ataksja - zwyrodnienie barwnikowe siatkówki"],"definition":"Klinicznie heterogenne, postępujące schorzenie, charakteryzując się połączeniem neurogennego osłabienia mięśni proksymalnych, neuropatii czuciowo-ruchowej, ataksji i retinopatii barwnikowej."},"cs":{"name":"Syndrom NARP","synonyms":["Neurogenní svalová slabost s ataxií a retinitis pigmentosa","Syndrom zahrnující neuropatii, ataxii a retinitis pigmentosa"]},"uk":{"name":"NARP-синдром","synonyms":["Синдром нейрогенної мязової слабкості-атаксії-пігментної дегенерації сітківки","Синдром нейропатії-атаксії-пігментної дегенерації сітківки"],"definition":"A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy."},"zh":{"name":"NARP综合征","synonyms":["神经源性肌无力-共济失调-色素性视网膜病变综合征"]},"tr":{"name":"NARP sendromu","synonyms":["Nöropati-ataksi-retinitis pigmentosa sendromu","Nörojenik kas güçsüzlüğü-ataksi-retinitis pigmentoza sendromu"]}},"xrefs":[{"source":"OMIM","code":"551500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C73.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2089784682"},{"source":"MONDO","code":"0010794","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537396","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1328349","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"262","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062940","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":225700,"name":"Mitochondrial disease with epilepsy","classifications":[156,181]},{"orpha":225703,"name":"Mitochondrial disease with peripheral neuropathy","classifications":[156,181]},{"orpha":254776,"name":"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MT-ATP6","name":"mitochondrially encoded ATP synthase membrane subunit 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301352[PMID]","hgnc":"7414","ensembl":"ENSG00000198899","omim":"516060","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-09","source":"19124644[PMID]_2137962[PMID]_19124644[PMID]","terms":[{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030588","label":"Abnormal visual field test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001133","label":"Constriction of peripheral visual field","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007117","label":"Corticospinal tract atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003739","label":"Myoclonic spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001136","label":"Retinal arteriolar tortuosity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007814","label":"Retinal pigment epithelial mottling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008316","label":"Abnormal mitochondria in muscle tissue","frequency":"Excluded (0%)","criteria":null}]}}