{"orpha":43,"name":"X-linked adrenoleukodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ALD","X-ALD","X-linked ALD"],"definition":"A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-43/","orphanet_url":"https://www.orpha.net/en/disease/detail/43","names":{"fr":{"name":"Adrénoleucodystrophie liée à l'X","synonyms":["ALD","ALD liée à l'X","X-ALD"],"definition":"Maladie paroxystique progressive rare caractérisée par un dysfonctionnement endocrinien (insuffisance surrénalienne et parfois insuffisance testiculaire), une myélopathie progressive, une neuropathie périphérique et, de façon variable, une leucodystrophie progressive."},"de":{"name":"Adrenoleukodystrophie, X-chromosomale","synonyms":["X-ALD","ALD","ALD, X-chromosomale"],"definition":"Eine seltene fortschreitende peroxisomale Störung, die durch endokrine Dysfunktion (Nebennierenversagen und manchmal Hodeninsuffizienz), fortschreitende Myelopathie, periphere Neuropathie und, in einigen Fällen, progressive Leukodystrophie gekennzeichnet ist."},"es":{"name":"Adrenoleucodistrofia ligada al cromosoma X","synonyms":["ALD","ALD ligada al cromosoma X","X-ALD"],"definition":"Es un trastorno peroxisomal progresivo poco frecuente caracterizado por disfunción endocrina (insuficiencia suprarrenal y, ocasionalmente, insuficiencia testicular), mielopatía progresiva, neuropatía periférica y, de forma variable, leucodistrofia progresiva."},"it":{"name":"Adrenoleucodistrofia legata all'X","synonyms":["ALD","ALD legata all'X","X-ALD"],"definition":"L'adrenoleucodistrofia legata all'X (X-ALD) è una malattia perossisomiale progressiva rara, caratterizzata da disfunzione endocrina (insufficienza surrenalica e, talvolta, insufficienza testicolare), mielopatia progressiva, neuropatia periferica e, in misura variabile, leucodistrofia progressiva."},"nl":{"name":"X-gebonden adrenoleukodystrofie","synonyms":["ALD","X-ALD","X-gebonden ALD"],"definition":"Een zeldzame progressieve peroxisomale aandoening, gekenmerkt door endocriene disfunctie (bijnierschorsinsufficiëntie en soms testiculaire insufficiëntie), progressieve myelopathie, perifere neuropathie, en, in variabele mate, progressieve leukodystrofie."},"pt":{"name":"Adrenoleucodistrofia ligada ao X","synonyms":["ALD","ALD ligada ao X","X-ALD"],"definition":"Doença peroxissomal progressiva rara caracterizada por disfunção endócrina (insuficiência suprarrenal e às vezes insuficiência testicular), mielopatia progressiva, neuropatia periférica e, variavelmente, leucodistrofia progressiva."},"pl":{"name":"Adrenoleukodystrofia sprzężona z chromosomem X","synonyms":["ALD","ALD sprzężona z chromosomem X","X-ALD"]},"cs":{"name":"X-vázaná adrenoleukodystrofie","synonyms":["ALD","X-ALD","X-vázaná ALD"]},"uk":{"name":"Х-зчеплена адренолейкодистрофія","synonyms":["ALD","X-ALD","Х-зчеплений АЛД"],"definition":"A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy."},"zh":{"name":"X连锁肾上腺脑白质营养不良","synonyms":["X连锁肾上腺脑白质营养不良"]},"tr":{"name":"X'e bağlı adrenolökodistrofi","synonyms":["ALD","X-ALD","X-ilişkili ALD"]}},"xrefs":[{"source":"OMIM","code":"300100","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"302700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C57.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"485676510"},{"source":"MeSH","code":"D000326","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162309","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5758","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051260","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":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":98543,"name":"Metabolic disease with dementia","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":79188,"name":"Peroxisomal beta-oxidation disorder","classifications":[150,156,233]},{"orpha":225686,"name":"Peroxisomal disease with epilepsy","classifications":[156,181]},{"orpha":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[{"orpha":139399,"name":"Adrenomyeloneuropathy","type":"Clinical subtype"},{"orpha":139396,"name":"X-linked cerebral adrenoleukodystrophy","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":139396,"name":"X-linked cerebral adrenoleukodystrophy"}},{"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"],"via":{"orpha":139399,"name":"Adrenomyeloneuropathy"}}],"inheritance":["X-linked dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Norway","status":"Validated","source":"23419472[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":2.0639,"area":"United States","status":"Validated","source":"31074578[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Israel","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-04","source":"20301491[PMID]","terms":[{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008969","label":"Leg muscle stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002385","label":"Paraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001730","label":"Progressive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007199","label":"Progressive spastic paraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011733","label":"Abnormality of adrenal physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000734","label":"Disinhibition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008768","label":"Inappropriate sexual behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003470","label":"Paralysis","frequency":"Occasional (29-5%)","criteria":null}]}}