{"orpha":2836,"name":"PEHO syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy"],"definition":"A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile-onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2836/","orphanet_url":"https://www.orpha.net/en/disease/detail/2836","names":{"fr":{"name":"Syndrome PEHO","synonyms":["Syndrome d'encéphalopathie progressive-oedème-hypsarythmie-atrophie optique"],"definition":"Encéphalopathie progressive rare apparaissant tôt dans l'enfance et caractérisée par une atrophie cérébelleuse extrême, une hypotonie d'apparition infantile, des spasmes infantiles avec hypsarythmie, une déficience intellectuelle profonde et une atrophie optique. L'acronyme PEHO désigne les principales caractéristiques du syndrome : Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy (pour les termes anglais correspondant à encéphalopathie progressive-oedème-hypsarythmie-atrophie optique)."},"de":{"name":"PEHO-Syndrom","synonyms":["Progressive Enzephalopathie mit Ödemen, Hypsarrhythmie und Optikusatrophie"],"definition":"Eine seltene, im frühen Kindesalter einsetzende progressive Enzephalopathie, die durch extreme Kleinhirnatrophie, im Kindesalter einsetzende Hypotonie, infantile Spasmen mit Hypsarrhythmie, tiefgreifende Intelligenzminderung und Optikusatrophie gekennzeichnet ist. PEHO steht für die Hauptmerkmale des Syndroms: Progressive Enzephalopathie mit Ödemen, Hypsarrhythmie und Optikusatrophie."},"es":{"name":"Síndrome PEHO","synonyms":["Encefalopatía progresiva con edema, hipsarritmia y atrofia óptica"],"definition":"Es una encefalopatía progresiva poco frecuente de inicio en la primera infancia caracterizada por atrofia cerebelosa grave, hipotonía de inicio en el lactante, espasmos infantiles con hipsarritmia, discapacidad intelectual profunda y atrofia óptica. Las siglas inglesas PEHO hacen referencia a las características principales del síndrome: encefalopatía progresiva con edema, hipsarritmia y atrofia óptica."},"it":{"name":"Sindrome PEHO","synonyms":["Encefalopatia progressiva - atrofia ottica","Encefalopatia progressiva con edema, ipsaritmia e atrofia ottica"]},"nl":{"name":"PEHO-syndroom","synonyms":["Progressieve encefalopathie met oedeem, hypsaritmie en opticusatrofie"],"definition":"Een zeldzame progressieve encefalopathie met aanvang in de vroege kindertijd, gekenmerkt door extreme cerebellaire atrofie, infantiel optredende hypotonie, infantiele spasmen met hypsaritmie, zeer ernstige intellectuele achterstand, en opticusatrofie. PEHO is het Engelse acroniem van de voornaamste kenmerken van het syndroom: Progressieve encefalopathie met oedeem (Edema), Hypsaritmie en Opticusatrofie."},"pt":{"name":"Síndrome PEHO","synonyms":["Síndrome de encefalopatia progressiva com edema, hipsarritmia e atrofia óptica"],"definition":"Encefalopatia progressiva rara de início precoce na infância caracterizada por atrofia cerebelar extrema, hipotonia de início infantil, espasmos infantis com hipsarritmia, deficiência intelectual profunda e atrofia óptica. PEHO significa as principais características da síndrome: Encefalopatia progressiva com edema, hipsarritmia e atrofia óptica."},"pl":{"name":"Zespół PEHO","synonyms":["Encefalopatia postępująca - atrofia nerwu wzrokowego","Encefalopatia postępująca z obrzękiem, hipsarytmią i atrofią nerwu wzrokowego"]},"cs":{"name":"PEHO syndrom","synonyms":["Progresivní encefalopatie s edémem, hypsarytmií a atrofií optického nervu","Syndrom zahrnující progresivní encefalopatii a atrofii optického nervu"]},"uk":{"name":"Синдром PEHO","synonyms":["Прогресуюча енцефалопатія з набряками, гіподинамією та атрофією зорового нерва"],"definition":"A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile-onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy."},"zh":{"name":"PEHO综合征","synonyms":["进行性脑病伴水肿、心律失常和视神经萎缩"]},"tr":{"name":"PEHO sendromu","synonyms":["ilerleyici ensefalopati-optik atrofi sendromu","Ödem, hipsaritmi ve optik atrofi ile seyreden ilerleyici ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"260565","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"976613527"},{"source":"MONDO","code":"0009841","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536317","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850055","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4264","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10086607","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":568047,"name":"Disorder with multisystemic involvement and primary lymphedema","classifications":[147,156,187,198]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"ZNHIT3","name":"zinc finger HIT-type containing 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28335020[PMID]","hgnc":"12309","ensembl":"ENSG00000273611","omim":"604500","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000177","label":"Abnormality of upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012398","label":"Peripheral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002132","label":"Porencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null}]}}