{"orpha":44,"name":"Neonatal adrenoleukodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Intermediate PBD-ZSD","Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder","NALD"],"definition":"A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) characterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-44/","orphanet_url":"https://www.orpha.net/en/disease/detail/44","names":{"fr":{"name":"Adrénoleucodystrophie néonatale","synonyms":["ABP-MSZ, forme intermédiaire","Anomalie de la biogenèse du péroxysome-maladie du spectre de Zellweger, forme intermédiaire","NALD"],"definition":"Variante de gravité intermédiaire du spectre du syndrome PBD-Zellweger (PBD-ZSS) caractérisée par une hypotonie, une leucodystrophie et des déficiences visuelles et auditives neurosensorielles. Des similarités phénotypiques sont observées entre l'adrénoleucodystrophie néonatale (ALDN) et la maladie de Refsum infantile (MRI)."},"de":{"name":"Adrenoleukodystrophie, neonatale Form","synonyms":["Intermediäres PBD-ZSD","NALD","Peroxisomenbiogenesedefekt-Zellweger-Spektrum-Störung, intermediäre Form"]},"es":{"name":"Adrenoleucodistrofia neonatal","synonyms":["NALD","PBD-ZSD intermedio","Trastorno de la biogénesis del peroxisoma-trastorno del espectro Zellweger intermedio"],"definition":"Es la variante de gravedad intermedia del PBD-espectro del síndrome Zellweger (PBD-ZSS). Se caracteriza por hipotonía, leucodistrofia y déficits visuales y sordera neurosensorial. Los fenotipos de NALD y la enfermedad de Refsum infantil (IRD) se superponen."},"it":{"name":"Adrenoleucodistrofia neonatale","synonyms":["Difetto intermedio della biogenesi dei perossisomi-spettro della sindrome di Zellweger","NALD","PBD-ZSD intermedio"],"definition":"L'adrenoleucodistrofia neonatale (NALD) è la variante di gravità intermedia dei PBD-spettro della sindrome di Zellweger (PBD-ZSS), con ipotonia, leucodistrofia, deficit visivi e sordità neurosensoriale. Vi è una sovrapposizione fenotipica tra NALD e malattia infantile di Refsum (IRD)."},"nl":{"name":"Neonatale adrenoleukodystrofie","synonyms":["Intermediaire PBD-ZSD","Intermediaire peroxisomale biogenesestoornis - Zellweger spectrum stoornis","NALD"],"definition":"Een variant van het PBD-syndroom van Zellweger spectrum (PBD-ZSS) met een intermediaire graad van ernst en gekarakteriseerd door hypotonie, leukodystrofie, visuele deficiënties en sensorineuraal gehoorverlies. Er wordt fenotypische overlap waargenomen tussen NALD en infantiele ziekte van Refsum (IRD)."},"pt":{"name":"Adrenoleucodistrofia neonatal","synonyms":["Doença do espectro Zellweger-disfunção intermédia da biogénese dos peroxissomas","NALD","PBD-ZSD intermédio"]},"pl":{"name":"Adrenoleukodystrofia noworodkowa","synonyms":["NALD"]},"cs":{"name":"Neonatální adrenoleukodystrofie","synonyms":["NALD"]},"uk":{"name":"Неонатальна адренолейкодистрофія","synonyms":["Проміжний PBD-ZSD","Порушення біогенезу проміжних пероксисом - розлад спектра Целльвегера","NALD"],"definition":"A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD)."},"zh":{"name":"新生儿肾上腺脑白质营养不良","synonyms":["NALD"]},"tr":{"name":"Yenidoğan adrenolökodistrofi","synonyms":["NALD"]}},"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":"E71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A74.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"478178009"},{"source":"MONDO","code":"0018598","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0282525","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"559","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":101960,"name":"Genetic chronic primary adrenal insufficiency","classifications":[156,193]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":225686,"name":"Peroxisomal disease with epilepsy","classifications":[156,181]},{"orpha":79189,"name":"Peroxisome biogenesis disorder","classifications":[150,156,181,183,189]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"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":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Italy","status":"Validated","source":"11953730[PMID]"},{"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:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Frequent (79-30%)","criteria":null}]}}