{"orpha":772,"name":"Infantile Refsum disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IRD","Mild PBD-ZSD","Mild peroxisome biogenesis disorder-Zellweger spectrum disorder"],"definition":"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-772/","orphanet_url":"https://www.orpha.net/en/disease/detail/772","names":{"fr":{"name":"Maladie de Refsum infantile","synonyms":["ABP-MSZ, forme modérée","Anomalie de la biogenèse du péroxysome-maladie du spectre de Zellweger, forme modérée","IRD"],"definition":"Forme la plus bénigne des anomalies de la biogenèse du péroxysome, maladie du spectre du syndrome de Zellweger (ABP-MSZ), caractérisée par une hypotonie, une rétinite pigmentaire, un retard de développement, une surdité de perception et un dysfonctionnement hépatique. Un chevauchement phénotypique est observé entre la MRI et l'adrénoleucodystrophie néonatale (NALD)."},"de":{"name":"Refsum-Krankheit, infantile Form","synonyms":["IRD","Mildes PBD-ZSD","Peroxisomenbiogenesedefekt-Zellweger-Spektrum-Störung, milde Form","Refsum-Syndrom, infantiles"]},"es":{"name":"Enfermedad de Refsum infantil","synonyms":["IRD","PBD-ZSD leve","Trastorno de la biogénesis del peroxisoma-trastorno del espectro Zellweger leve"],"definition":"La enfermedad de Refsum infantil (IRD) es la variante más leve de los trastornos de la biogénesis del peroxisoma, espectro del síndrome Zellweger (PBD-ZSS). Se caracteriza por hipotonía, retinosis pigmentaria, retraso en el desarrollo, pérdida neurosensorial de audición y disfunción hepática. Hay fenotipo superpuesto entre la IRD y la adrenoleucodistrofia neonatal (NALD)."},"it":{"name":"Malattia di Refsum infantile","synonyms":["Difetto lieve della biogenesi dei perossisomi-spettro della sindrome di Zellweger","IRD","PBD-ZSD lieve"],"definition":"La malattia infantile di Refsum (IRD) è il meno grave fra i difetti della biogenesi dei perossisomi, spettro della sindrome di Zellweger (PBD-ZSS), con ipotonia, retinite pigmentosa, ritardo dello sviluppo, sordità neurosensoriale e disfunzione epatica. Vi è una sovrapposizione clinica tra IRD e NALD (adrenoleucodistrofia neonatale)."},"nl":{"name":"Ziekte van Refsum, infantiele vorm","synonyms":["IRD","Milde PBD-ZSD","Milde peroxisomale biogenesestoornis - Zellweger spectrum stoornis"],"definition":"De infantiele vorm van de ziekte van Refsum (IRD) is de mildste variant van de peroxisoombiogenese-aandoeningen van het Zellwegersyndroom-spectrum (PBD-ZSS; zie deze term) en wordt gekenmerkt door hypotonie, retinitis pigmentosa, vertraging in de ontwikkeling, perceptief gehoorverlies en leverdisfunctie. Er wordt fenotypische overlap waargenomen tussen IRD en neonatale adrenoleukodystrofie (NALD) (zie deze term)."},"pt":{"name":"Doença Refsum da infância","synonyms":["Doença do espectro Zellweger-disfunção moderada da biogénese dos peroxissomas","PBD-ZSD moderada"],"definition":"A forma infantil da doença de Refsum é uma doença que afecta os peroxissomas, manifestando-se com retinite pigmentosa e neuropatia periférica. Pertence ao grupo das doenças do peroxissoma, um subgrupo das leucodistrofias."},"pl":{"name":"Niemowlęca postać choroby Refsuma","synonyms":["IRD"]},"cs":{"name":"Infantilní Refsumova nemoc","synonyms":["IRD"]},"uk":{"name":"Інфантильна хвороба Рефсума","synonyms":["IRD","Мякий PBD-ZSD","Легке порушення біогенезу пероксисом - розлад спектра Целльвегера"],"definition":"Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)."},"zh":{"name":"婴儿雷夫叙姆病","synonyms":["IRD"]},"tr":{"name":"İnfantil Refsum hastalığı","synonyms":["IRD"]}},"xrefs":[{"source":"OMIM","code":"202370","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"266510","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601539","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614863","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614867","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614871","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614873","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614877","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614885","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614920","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617370","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C57.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"745921582"},{"source":"MONDO","code":"0019174","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D052919","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0282527","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4648","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98096,"name":"Autosomal recessive metabolic cerebellar ataxia","classifications":[156,181]},{"orpha":139009,"name":"Developmental anomaly of metabolic origin","classifications":[147,156]},{"orpha":225686,"name":"Peroxisomal disease with epilepsy","classifications":[156,181]},{"orpha":79189,"name":"Peroxisome biogenesis disorder","classifications":[150,156,181,183,189]}],"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":null,"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":null,"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":null,"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":null,"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":null,"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":null,"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":null,"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":null,"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":null,"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":null,"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":null,"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":null,"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":null,"hgnc":"8859","ensembl":"ENSG00000124587","omim":"601498","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"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:0001133","label":"Constriction of peripheral visual field","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010571","label":"Elevated levels of phytanic acid","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003323","label":"Progressive muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","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:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}