{"orpha":139396,"name":"X-linked cerebral adrenoleukodystrophy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["X-CALD"],"definition":"A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139396/","orphanet_url":"https://www.orpha.net/en/disease/detail/139396","names":{"fr":{"name":"Adrénoleucodystrophie liée à l'X, forme cérébrale","synonyms":["X-CALD"],"definition":"Maladie péroxysomale progressive caractérisée par un dysfonctionnement endocrinien (insuffisance surrénale et parfois insuffisance testiculaire), une myélopathie et une neuropathie périphérique progressives, et une leucodystrophie. L'âge d'apparition est très variable, mais se situe souvent dans la première décennie de vie."},"de":{"name":"Adrenoleukodystrophie, X-chromosomale, zerebrale Form","synonyms":["X-CALD"],"definition":"Eine fortschreitende peroxisomale Erkrankung, die durch endokrine Dysfunktion (Nebennierenversagen und manchmal Hodeninsuffizienz), progressive Myelopathie und periphere Neuropathie sowie Leukodystrophie gekennzeichnet ist. Das Erkrankungsalter ist sehr unterschiedlich, liegt aber häufig im ersten Jahrzehnt."},"es":{"name":"Adrenoleucodistrofia cerebral ligada al cromosoma X","synonyms":["ALDC-X"],"definition":"Es una enfermedad peroxisomal progresiva que se caracteriza por disfunción endocrina (insuficiencia suprarrenal y, a veces, insuficiencia testicular), mielopatía progresiva y neuropatía periférica, y leucodistrofia. La edad de inicio es muy variable, pero a menudo se presenta en la primera década de vida."},"it":{"name":"Adrenoleucodistrofia cerebrale legata all'X","definition":"Si tratta di una malattia perossisomiale progressiva, caratterizzata da disfunzione endocrina (insufficienza surrenalica e, talvolta, insufficienza testicolare), mielopatia progressiva, neuropatia periferica e leucodistrofia. L'età d'esordio è molto variabile, ma spesso si colloca nella prima decade di vita."},"nl":{"name":"X-gebonden cerebrale adrenoleukodystrofie","synonyms":["X-CALD"],"definition":"Een progressieve peroxisomale aandoening, gekenmerkt door endocriene disfunctie (bijnierschorsinsufficiëntie en soms testiculaire insufficiëntie), progressieve myelopathie en perifere neuropathie, en leukodystrofie. De aanvangsleeftijd is zeer variabel, maar ligt vaak in het eerste levensdecennium."},"pt":{"name":"Adrenoleucodistrofia ligada ao X cerebral","synonyms":["X-CALD"],"definition":"Doença peroxissomal progressiva, caracterizada por disfunção endócrina (insuficiência suprarrenal e por vezes insuficiência testicular), mielopatia progressiva e neuropatia periférica e leucodistrofia. A idade de início é muito variável, mas geralmente ocorre na primeira década."},"pl":{"name":"Adrenoleukodystrofia mózgowa sprzężona z chromosomem X","synonyms":["X-CALD"]},"cs":{"name":"X-vázaná cerebrální adrenoleukodystrofie","synonyms":["X-CALD"]},"uk":{"name":"Х-зчеплена церебральна адренолейкодистрофія","synonyms":["X-CALD"],"definition":"A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade."},"zh":{"name":"X连锁遗传脑肾上腺脑白质营养不良","synonyms":["X-CALD"],"definition":"X连锁肾上腺脑白质营养不良 (X-ALD)的一种亚型，是一种过氧化物酶体病，其特征是大脑中严重的炎症性脱髓鞘，常与肾上腺功能减退相关。"},"tr":{"name":"X'e bağlı serebral adrenolökodistrofi","synonyms":["X-CALD"]}},"xrefs":[{"source":"OMIM","code":"300100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C57.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1105019687"},{"source":"MONDO","code":"0010247","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2026514","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9412","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":43,"name":"X-linked adrenoleukodystrophy","classifications":[150,156,181,193,201,233]}],"children":[],"genes":[{"symbol":"ABCD1","name":"ATP binding cassette subfamily D member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301491[PMID]","hgnc":"61","ensembl":"ENSG00000101986","omim":"300371","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-15","source":"22889154[PMID]_32953324[PMID]_25115486[PMID]_22889154[PMID]","terms":[{"hpo":"HP:0007305","label":"CNS demyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007162","label":"Diffuse demyelination of the cerebral white matter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002196","label":"Myelopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","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:0004359","label":"Abnormal circulating fatty-acid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012501","label":"Abnormality of the brainstem white matter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002143","label":"Abnormality of the spinal cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010527","label":"Astereognosia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000317","label":"Facial myokymia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007034","label":"Generalized hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003089","label":"Hamstring contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031993","label":"Hoffmann sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030222","label":"Visual agnosia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031358","label":"Vegetative state","frequency":"Very rare (<4-1%)","criteria":null}]}}