raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:139399

Adrenomyeloneuropathy

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
X-linked recessive
Age of onset
Adult
Status
active

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.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAdrenomyeloneuropathy
frAdrénomyéloneuropathie
deAdrenomyeloneuropathieAMN
esAdrenomieloneuropatía
itAdrenomieloneuropatia
nlAdrenomyeloneuropathie
ptAdrenomieloneuropatia
plAdrenomieloneuropatia
csAdrenomyeloneuropatie
ukАдреномієлоневропатія
zh肾上腺髓质神经病
trAdrenomiyelonöropati

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM300100NTBTvalidated
ICD-10E71.3NTBTattributedvalidated
ICD-115C57.1NTBTindexvalidated
MONDO0015339Evalidated
UMLSC1527231Evalidated
GARD10614Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
ABCD1Disease-causing germline mutation(s) inAssessedHGNC:61ENSG00000101986300371Xq28ATP binding cassette subfamily D member 120301491[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

49 annotations · validated 2021-03-29
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0004359Abnormal circulating fatty-acid concentration
HP:0030177Abnormality of peripheral nervous system electrophysiology
HP:0002143Abnormality of the spinal cord
HP:0040078Axonal degeneration
HP:0009053Distal lower limb muscle weakness
HP:0002936Distal sensory impairment
HP:0031064Impaired continence
HP:0000764Peripheral axonal degeneration
HP:0007199Progressive spastic paraparesis
Frequent (79-30%)
HP:0031845Abnormal libido
HP:0100291Abnormality of central somatosensory evoked potentials
HP:0001000Abnormality of skin pigmentation
HP:0000849Adrenocortical abnormality
HP:0011749Adrenocorticotropic hormone excess
HP:0006827Atrophy of the spinal cord
HP:0007372Atrophy/Degeneration involving the corticospinal tracts
HP:0003487Babinski sign
HP:0002607Bowel incontinence
HP:0410263Brain imaging abnormality
HP:0007266Cerebral dysmyelination
HP:0007006Dorsal column degeneration
HP:0100639Erectile dysfunction
HP:0012378Fatigue
HP:0030014Female sexual dysfunction
HP:0002213Fine hair
HP:0001347Hyperreflexia
HP:0010284Intra-oral hyperpigmentation
HP:0008969Leg muscle stiffness
HP:0100816Lip hyperpigmentation
HP:0040307Male sexual dysfunction
HP:0009830Peripheral neuropathy
HP:0002064Spastic gait
HP:0001257Spasticity
HP:0002839Urinary bladder sphincter dysfunction
HP:0008167Very long chain fatty acid accumulation
Occasional (29-5%)
HP:0000846Adrenal insufficiency
HP:0000708Atypical behavior
HP:0003418Back pain
HP:0100543Cognitive impairment
HP:0100502Decreased circulating vitamin B12 concentration
HP:0001260Dysarthria
HP:0012534Dysesthesia
HP:0002292Frontal balding
HP:0004302Functional motor deficit
HP:0002354Memory impairment
HP:0008207Primary adrenal insufficiency
HP:0000020Urinary incontinence
HP:0000016Urinary retention
HP:0000012Urinary urgency

Run the differential on the 9 obligate / very frequent terms

Annotation source: 31909500[PMID]_17342190[PMID]_25378668[PMID]_31526374[PMID]_20301491[PMID]

7

Sources for this card