{"orpha":139399,"name":"Adrenomyeloneuropathy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139399/","orphanet_url":"https://www.orpha.net/en/disease/detail/139399","names":{"fr":{"name":"Adrénomyéloneuropathie","definition":"Forme d'adrénoleucodystrophie péroxysomale liée à l'X, caractérisée par une myélopathie progressive et une neuropathie périphérique, souvent associée chez les hommes à une insuffisance surrénale périphérique. La maladie se manifeste généralement à l'âge adulte."},"de":{"name":"Adrenomyeloneuropathie","synonyms":["AMN"],"definition":"Ein Subtyp der peroxisomalen X-chromosomalen Adrenoleukodystrophie, die durch fortschreitende Myelopathie und periphere Neuropathie gekennzeichnet ist und bei Männern häufig mit peripherer Nebenniereninsuffizienz einhergeht. Die Erkrankung beginnt typischerweise im Erwachsenenalter."},"es":{"name":"Adrenomieloneuropatía","definition":"Es una forma de adrenoleucodistrofia ligada al cromosoma X, una enfermedad peroxisomal, que se caracteriza por mielopatía progresiva y neuropatía periférica, y a menudo asociada a una insuficiencia suprarrenal periférica en varones. Por lo general, el inicio es en la edad adulta."},"it":{"name":"Adrenomieloneuropatia","definition":"Si tratta di una forma di adrenoleucodistrofia perossisomiale legata all'X, caratterizzata da mielopatia progressiva e neuropatia periferica, spesso associate a insufficienza surrenalica periferica nei maschi. Di solito la malattia esordisce nell'età adulta."},"nl":{"name":"Adrenomyeloneuropathie","definition":"Een vorm van de peroxisomale aandoening X-gebonden adrenoleukodystrofie, gekenmerkt door progressieve myelopathie en perifere neuropathie, en vaak geassocieerd met perifere bijnierschorsinsufficiëntie bij mannen. De ziekte treedt doorgaans op in de volwassenheid."},"pt":{"name":"Adrenomieloneuropatia","definition":"Uma forma de adrenoleucodistrofia ligada ao X da doença peroxissomal, caracterizada por mielopatia progressiva e neuropatia periférica, e frequentemente associada a insuficiência suprarrenal periférica em homens. O início ocorre geralmente na idade adulta."},"pl":{"name":"Adrenomieloneuropatia"},"cs":{"name":"Adrenomyeloneuropatie"},"uk":{"name":"Адреномієлоневропатія","definition":"A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood."},"zh":{"name":"肾上腺髓质神经病","definition":"一种成人型的过氧化物酶体疾病X连锁肾上腺脑白质营养不良（X-ALD），其特征是痉挛性瘫痪，常与男性外周肾上腺功能不全相关。"},"tr":{"name":"Adrenomiyelonöropati"}},"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":"1214673956"},{"source":"MONDO","code":"0015339","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1527231","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10614","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","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":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-29","source":"31909500[PMID]_17342190[PMID]_25378668[PMID]_31526374[PMID]_20301491[PMID]","terms":[{"hpo":"HP:0004359","label":"Abnormal circulating fatty-acid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030177","label":"Abnormality of peripheral nervous system electrophysiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002143","label":"Abnormality of the spinal cord","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040078","label":"Axonal degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031064","label":"Impaired continence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000764","label":"Peripheral axonal degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007199","label":"Progressive spastic paraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031845","label":"Abnormal libido","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100291","label":"Abnormality of central somatosensory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000849","label":"Adrenocortical abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011749","label":"Adrenocorticotropic hormone excess","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007372","label":"Atrophy/Degeneration involving the corticospinal tracts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007266","label":"Cerebral dysmyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007006","label":"Dorsal column degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100639","label":"Erectile dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030014","label":"Female sexual dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010284","label":"Intra-oral hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008969","label":"Leg muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100816","label":"Lip hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040307","label":"Male sexual dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008167","label":"Very long chain fatty acid accumulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100502","label":"Decreased circulating vitamin B12 concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002292","label":"Frontal balding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Occasional (29-5%)","criteria":null}]}}