{"orpha":79189,"name":"Peroxisome biogenesis disorder","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["PBD-ZSD","Peroxisome biogenesis disorder spectrum","Peroxisome biogenesis disorder-Zellweger spectrum disorder"],"definition":"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79189/","orphanet_url":"https://www.orpha.net/en/disease/detail/79189","names":{"fr":{"name":"Anomalie de la biogenèse du péroxysome","synonyms":["ABP-MSZ","Anomalie de la biogenèse du péroxysome-maladie du spectre de Zellweger","Spectre des anomalies de la biogenèse du péroxysome"],"definition":"Groupe de maladies autosomiques récessives affectant la formation de peroxysomes fonctionnels, caractérisées par une surdité neurosensorielle, une dégénérescence pigmentaire de la rétine, une défaillance multiviscérale et des troubles psychomoteurs. Ce groupe englobe les variantes phénotypiques suivantes : le syndrome de Zellweger (ZS), l'adrénoleucodystrophie néonatale (NALD) et la maladie de Refsum infantile (IRD)."},"de":{"name":"Peroxisomenbiogenesedefekt","synonyms":["PBD-ZSD","Peroxisomale Biogenese-Störung","Peroxisomenbiogenesedefekt-Zellweger-Spektrum-Störung"],"definition":"Das Peroxisomenbiogenesedefekte-Zellweger-Syndrom-Spektrum (PBD-ZSS) ist eine Gruppe autosomal-rezessiver Störungen mit beeinträchtigter Bildung funktioneller Peroxisomen. Die Krankheitsgruppe ist gekennzeichnet durch Schallempfindungs-Schwerhörigkeit, Retinitis pigmentosa, Funktionsstörungen multipler Organe und psychomotorische Beeinträchtigung und umfasst die phänotypischen Varianten Zellweger-Syndrom (ZS), Neonatale Adrenoleukodystrophie (NALD) und Infantile Refsum-Krankheit (IRD) (siehe jeweils dort)."},"es":{"name":"Trastorno de la biogénesis del peroxisoma","synonyms":["Espectro de trastornos de la biogénesis del peroxisoma","Trastorno de la biogénesis del peroxisoma-trastorno del espectro Zellweger","Trastorno de la biogénesis peroxisomal"],"definition":"Los trastornos de la biogénesis del peroxisoma, el espectro del síndrome Zellweger (PBD-ZSS), son un grupo de trastornos autosómicos recesivos que afectan a la función de los peroxisomas. Se caracteriza por pérdida de audición, degeneración retiniana pigmentaria, disfunción multiorgánica y deterioro psicomotor, y abarca las variantes fenotípicas del síndrome de Zellweger (ZS), la adrenoleucodistrofia neonatal (NALD) y la enfermedad de Refsum infantil (IRD) (consulte estos términos)."},"it":{"name":"Difetto della biogenesi dei perossisomi","synonyms":["Difetto della biogenesi dei perossisomi-spettro della sindrome di Zellweger","PBD-ZSD","Spettro della biogenesi dei perossisomi"],"definition":"I difetti della biogenesi dei perossisomi, il cosiddetto spettro della sindrome di Zellweger (PBD-ZSS), comprendono un gruppo di malattie autosomiche recessive che interessano la formazione dei perossisomi funzionanti. Questo gruppo di condizioni, caratterizzate dalla sordità neurosensoriale, dalla retinite pigmentosa, da disfunzioni multiorgano e da ritardo psicomotorio, comprende le varianti fenotipiche della sindrome di Zellweger (ZS), l'adrenoleucodistrofia neonatale (NALD), la malattia infantile di Refsum (IRD) (si vedano questi termini)."},"nl":{"name":"Stoornis van peroxisoombiogenese","synonyms":["PBD-ZSD","Peroxisomale biogenesestoornis - Zellweger spectrum stoornis","Peroxisomale biogenesestoornis spectrum"],"definition":"Peroxisome biogenesestoornis-Zellweger syndroom spectrum (PBD-ZSS) is een groep autosomaal recessieve aandoeningen die de vorming van functionele peroxisomen treft en gekarakteriseerd worden door sensorineuraal gehoorverlies, degeneratie van de pigmentcellen van het netvlies, stoornissen aan meerdere organen en psychomotorische beperkingen. De groep omvat de fenotypische varianten Zellwegersyndroom (ZS), neonatale adrenoleukodystrofie (NALD) en infantiele ziekte van Refsum (IRD) (zie deze termen)."},"pt":{"name":"Doença da biogénese dos peroxissomas","synonyms":["Doença do espectro Zellweger-disfunção da biogénese dos peroxissomas","PBD-ZSD"]},"pl":{"name":"Zaburzenie biogenezy peroksysomów","synonyms":["Spektrum zaburzenia biogenezy peroksysomów"]},"cs":{"name":"Porucha peroxisomální biogeneze","synonyms":["PBD-ZSD","PBD-ZSS","PBD - spektrum Zellwegerova syndromu"]},"uk":{"name":"Порушення біогенезу пероксисом","synonyms":["PBD-ZSD","Спектр порушень біогенезу пероксисом","Порушення біогенезу пероксисом - розлад спектра Целльвегера"],"definition":"Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)."},"zh":{"name":"过氧化物酶体生物合成异常","synonyms":["过氧化物酶体生物合成异常疾病谱"]},"tr":{"name":"Peroksizom biyogenez bozukluğu","synonyms":["Peroksizom biyogenez bozukluğu spektrumu"]}},"xrefs":[{"source":"OMIM","code":"202370","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"214100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"214110","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"266510","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601539","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":"614863","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614866","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614867","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614870","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614871","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614872","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614873","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614876","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614877","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614879","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":"614885","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":"614920","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-11","code":"5C57.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1919322367"},{"source":"MONDO","code":"0019234","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19234","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536664","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832200","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11890","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":34,"name":"Pipecolic acidemia","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":68373,"name":"Peroxisomal disease","classifications":[150,156]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[{"orpha":772,"name":"Infantile Refsum disease","type":"Disease"},{"orpha":44,"name":"Neonatal adrenoleukodystrophy","type":"Disease"},{"orpha":912,"name":"Zellweger syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"United States","status":"Validated","source":"20301621[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"United States","status":"Not yet validated","source":"20301621[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Japan","status":"Validated","source":"12794690[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Japan","status":"Not yet validated","source":"12794690[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}