Adrenomyeloneuropathy

General Information (adopted from Orphanet):

Synonyms, Signs: ADDISON DISEASE AND CEREBRAL SCLEROSIS
MELANODERMIC LEUKODYSTROPHY ADRENOMYELONEUROPATHY, INCLUDED
BRONZE SCHILDER DISEASE
AMN, INCLUDED
SIEMERLING-CREUTZFELDT DISEASE
ALD
Number of Symptoms 26
OrphanetNr: 139399
OMIM Id: 300100
ICD-10: E71.3
UMLs: C1527231
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hereditary metabolic disease with peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease
X-linked adrenoleukodystrophy
 -Rare endocrine disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000802) Impotence 20 / 7739
2
(HPO:0000020) Urinary incontinence 75 / 7739
3
(HPO:0000572) Visual loss 272 / 7739
4
(HPO:0000365) Hearing impairment 539 / 7739
5
(HPO:0002371) Loss of speech 15 / 7739
6
(HPO:0001251) Ataxia 413 / 7739
7
(HPO:0001257) Spasticity 251 / 7739
8
(HPO:0002311) Incoordination 84 / 7739
9
(HPO:0003474) Sensory impairment 54 / 7739
10
(HPO:0000709) Psychosis 61 / 7739
11
(HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
12
(HPO:0003401) Paresthesia 42 / 7739
13
(HPO:0001250) Seizures 1245 / 7739
14
(HPO:0002385) Paraparesis 12 / 7739
15
(HPO:0002344) Progressive neurologic deterioration 27 / 7739
16
(HPO:0001268) Mental deterioration 88 / 7739
17
(HPO:0000726) Dementia 131 / 7739
18
(HPO:0000708) Behavioral abnormality 212 / 7739
19
(HPO:0000846) Adrenal insufficiency 24 / 7739
20
(HPO:0002607) Bowel incontinence 33 / 7739
21
(HPO:0001283) Bulbar palsy 31 / 7739
22
(OMIM) [DEL]Autistic features 43 / 7739
23
(OMIM) Systemic accumulation of very long chain fatty acids (VLCFA) 2 / 7739
24
(OMIM) Cerebral demyelination and inflammation 2 / 7739
25
(OMIM) Distal axonopathy (adrenomyeloneuropathy) 2 / 7739
26
(HPO:0002500) Abnormality of the cerebral white matter 73 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Adrenoleukodystrophy is an X-linked disorder which is secondary to a mutation in the ABCD1 gene and results in the apparent defect in peroxisomal beta oxidation and the accumulation of the saturated very long chain fatty acids (VLCFA) in ...
Diagnosis OMIM Moser et al. (1981) developed a plasma method for the detection of very long chain fatty acids providing for the diagnosis of affected individuals and assisting in carrier identification. Moser et al. (1999) reported the results of testing ...
Clinical Description OMIM Adrenoleukodystrophy can present at a variety of ages and with different manifestations depending on the presence and type of neurologic findings. Moser et al. (2000) stated that there are 7 phenotypes which include the childhood cerebral form, adrenomyeloneuropathy ...
Molecular genetics OMIM See the MOLECULAR GENETICS section in 300371.
Population genetics OMIM Moser et al. (1991) reported that their laboratory had identified more than 900 hemizygotes and 1,000 heterozygotes. Approximately 50% of the hemizygotes had a rapidly progressive childhood or adolescent form of the disease. In 25% of males, a ...