{"orpha":912,"name":"Zellweger syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cerebrohepatorenal syndrome","Severe PBD-ZSD","Severe peroxisome biogenesis disorder-Zellweger spectrum disorder","ZS"],"definition":"A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-912/","orphanet_url":"https://www.orpha.net/en/disease/detail/912","names":{"fr":{"name":"Syndrome de Zellweger","synonyms":["ABP-MSZ, forme sévère","Anomalie de la biogenèse du péroxysome-maladie du spectre de Zellweger, forme sévère","Syndrome cérébro-hépato-rénal"],"definition":"Anomalie rare de la biogenèse du péroxysome (la variante la plus grave du spectre des anomalies de la biogenèse des péroxysomes) caractérisée par des défauts de migration neuronale dans le cerveau, des atteintes à type de dysmorphie craniofaciale, une importante hypotonie, des crises convulsives néonatales et un dysfonctionnement hépatique."},"de":{"name":"Zellweger-Syndrom","synonyms":["Peroxisomenbiogenesedefekt-Zellweger-Spektrum-Störung, schwere Form","Schweres PBD-ZSD","ZS","Zerebro-hepato-renales Syndrom"],"definition":"Eine seltene Störung der Peroxisombiogenese (die schwerste Variante des PBD-ZSS (Peroxisomenbiogenesedefekte-Zellweger-Syndrom-Spektrum)), die durch neuronale Migrationsstörungen im Gehirn, dysmorphe kraniofaziale Merkmale, ausgeprägte Hypotonie, neonatale Krampfanfälle und Leberfunktionsstörungen gekennzeichnet ist."},"es":{"name":"Síndrome de Zellweger","synonyms":["PBD-ZSD grave","Síndrome cerebrohepatorrenal","Trastorno de la biogénesis del peroxisoma-trastorno del espectro Zellweger grave"],"definition":"Es un trastorno de la biogénesis del peroxisoma caracterizado por defectos de migración neuronal, rasgos craneofaciales dismórficos, convulsiones neonatales y disfunción hepática."},"it":{"name":"Sindrome di Zellweger","synonyms":["Difetto grave della biogenesi dei perossisomi-spettro della sindrome di Zellweger","PBD-ZSD grave","Sindrome cerebro-epato-renale","ZS"],"definition":"La sindrome di Zellweger (ZS) è la variante più grave dei difetti della biogenesi dei perossisomi, spettro della sindrome di Zellweger (PBD-ZSS), con difetti di migrazione neuronale nel cervello, dismorfismi craniofacciali, ipotonia profonda, convulsioni neonatali e disfunzione epatica."},"nl":{"name":"Syndroom van Zellweger","synonyms":["Cerebrohepatorenaal syndroom","Ernstige PBD-ZSD","Ernstige peroxisomale biogenesestoornis - Zellweger spectrum stoornis","ZS"],"definition":"Een aandoening van peroxisoombiogenese, gekarakteriseerd door defecten van de neuronale migratie in de hersenen, dysmorfe craniofaciale kenmerken, zeer ernstige hypotonie, neonatale insulten, en leverdisfunctie."},"pt":{"name":"Síndrome Zellweger","synonyms":["Doença do espectro Zellweger-disfunção grave da biogénese dos peroxissomas","Síndrome cérebro-hepato-renal","ZS"]},"pl":{"name":"Zespół Zellwegera","synonyms":["Zespół mózgowo-wątrobowo-nerkowy","ZS"],"definition":"Rzadkie zaburzenie biogenezy peroksysomów (najcięższy wariant spektrum zaburzeń biogenezy peroksysomów), charakteryzujące się defektami migracji neuronów w mózgu, dysmorficznymi cechami twarzoczaszki, głęboką hipotonią, drgawkami noworodkowymi i dysfunkcją wątroby."},"cs":{"name":"Zellwegerův syndrom","synonyms":["Cerebrohepatorenální syndrom","ZS","CHRS"]},"uk":{"name":"Синдром Целлвегера","synonyms":["Цереброгепаторенальний синдром","Тяжкий PBD-ZSD","Тяжке порушення біогенезу пероксисом - розлад спектра Целльвегера","ZS"],"definition":"A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction."},"zh":{"name":"Zellweger综合征","synonyms":["脑肝肾综合征"]},"tr":{"name":"Zellweger sendromu","synonyms":["ZS","Serebrohepatorenal sendrom"]}},"xrefs":[{"source":"OMIM","code":"214100","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"214110","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614859","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614862","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614866","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614870","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614872","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614876","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614882","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614883","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614886","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614887","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617370","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C57.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"226023718"},{"source":"MONDO","code":"0019609","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015211","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0043459","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7917","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053684","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1271,"name":"Bowen syndrome","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98650,"name":"Craniofacial anomaly with cataract","classifications":[156,189]},{"orpha":139009,"name":"Developmental anomaly of metabolic origin","classifications":[147,156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":225686,"name":"Peroxisomal disease with epilepsy","classifications":[156,181]},{"orpha":79189,"name":"Peroxisome biogenesis disorder","classifications":[150,156,181,183,189]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"PEX1","name":"peroxisomal biogenesis factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301621[PMID]","hgnc":"8850","ensembl":"ENSG00000127980","omim":"602136","loci":["7q21.2"]},{"symbol":"PEX10","name":"peroxisomal biogenesis factor 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301621[PMID]","hgnc":"8851","ensembl":"ENSG00000157911","omim":"602859","loci":["1p36.32"]},{"symbol":"PEX11B","name":"peroxisomal biogenesis factor 11 beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22581968[PMID]","hgnc":"8853","ensembl":"ENSG00000131779","omim":"603867","loci":["1q21.1"]},{"symbol":"PEX12","name":"peroxisomal biogenesis factor 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301621[PMID]","hgnc":"8854","ensembl":"ENSG00000108733","omim":"601758","loci":["17q12"]},{"symbol":"PEX13","name":"peroxisomal biogenesis factor 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301621[PMID]","hgnc":"8855","ensembl":"ENSG00000162928","omim":"601789","loci":["2p15"]},{"symbol":"PEX14","name":"peroxisomal biogenesis factor 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301621[PMID]","hgnc":"8856","ensembl":"ENSG00000142655","omim":"601791","loci":["1p36.22"]},{"symbol":"PEX16","name":"peroxisomal biogenesis factor 16","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301621[PMID]","hgnc":"8857","ensembl":"ENSG00000121680","omim":"603360","loci":["11p11.2"]},{"symbol":"PEX19","name":"peroxisomal biogenesis factor 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301621[PMID]","hgnc":"9713","ensembl":"ENSG00000162735","omim":"600279","loci":["1q23.2"]},{"symbol":"PEX2","name":"peroxisomal biogenesis factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301621[PMID]","hgnc":"9717","ensembl":"ENSG00000164751","omim":"170993","loci":["8q21.13"]},{"symbol":"PEX26","name":"peroxisomal biogenesis factor 26","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301621[PMID]","hgnc":"22965","ensembl":"ENSG00000215193","omim":"608666","loci":["22q11.21"]},{"symbol":"PEX3","name":"peroxisomal biogenesis factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301621[PMID]","hgnc":"8858","ensembl":"ENSG00000034693","omim":"603164","loci":["6q24.2"]},{"symbol":"PEX5","name":"peroxisomal biogenesis factor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301621[PMID]","hgnc":"9719","ensembl":"ENSG00000139197","omim":"600414","loci":["12p13.31"]},{"symbol":"PEX6","name":"peroxisomal biogenesis factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301621[PMID]","hgnc":"8859","ensembl":"ENSG00000124587","omim":"601498","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.2,"area":"Specific population","status":"Validated","source":"22894767[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.6,"area":"Israel","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.2,"area":"Specific population","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","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:0010655","label":"Epiphyseal stippling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012736","label":"Profound global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008167","label":"Very long chain fatty acid accumulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000532","label":"Chorioretinal abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","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:0002126","label":"Polymicrogyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000627","label":"Posterior embryotoxon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000157","label":"Abnormality of the tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001088","label":"Brushfield spots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}