X-linked cerebral adrenoleukodystrophy

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 41
OrphanetNr: 139396
OMIM Id: 300100
ICD-10: E71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic neurometabolic disease with X-linked intellectual deficit
 -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:0002839) Urinary bladder sphincter dysfunction 34 / 7739
2
(HPO:0000135) Hypogonadism 89 / 7739
3
(HPO:0000020) Urinary incontinence 75 / 7739
4
(HPO:0000802) Impotence 20 / 7739
5
(HPO:0000572) Visual loss 272 / 7739
6
(HPO:0000618) Blindness 124 / 7739
7
(HPO:0000365) Hearing impairment 539 / 7739
8
(HPO:0002385) Paraparesis 12 / 7739
9
(HPO:0003401) Paresthesia 42 / 7739
10
(HPO:0002311) Incoordination 84 / 7739
11
(HPO:0003474) Sensory impairment 54 / 7739
12
(HPO:0002371) Loss of speech 15 / 7739
13
(HPO:0001250) Seizures 1245 / 7739
14
(HPO:0000709) Psychosis 61 / 7739
15
(HPO:0001271) Polyneuropathy 56 / 7739
16
(HPO:0002078) Truncal ataxia 41 / 7739
17
(HPO:0001268) Mental deterioration 88 / 7739
18
(HPO:0000726) Dementia 131 / 7739
19
(HPO:0001350) Slurred speech 16 / 7739
20
(HPO:0001257) Spasticity 251 / 7739
21
(HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
22
(HPO:0002070) Limb ataxia 41 / 7739
23
(HPO:0001251) Ataxia 413 / 7739
24
(HPO:0000708) Behavioral abnormality 212 / 7739
25
(HPO:0002344) Progressive neurologic deterioration 27 / 7739
26
(HPO:0001258) Spastic paraplegia 97 / 7739
27
(HPO:0000846) Adrenal insufficiency 24 / 7739
28
(HPO:0008207) Primary adrenal insufficiency 26 / 7739
29
(HPO:0000924) Abnormality of the skeletal system 114 / 7739
30
(HPO:0002607) Bowel incontinence 33 / 7739
31
(HPO:0000953) Hyperpigmentation of the skin 75 / 7739
32
(HPO:0003455) Elevated long chain fatty acids 8 / 7739
33
(HPO:0001283) Bulbar palsy 31 / 7739
34
(OMIM) [DEL]Autistic features 43 / 7739
35
(OMIM) Systemic accumulation of very long chain fatty acids (VLCFA) 2 / 7739
36
(OMIM) Cerebral demyelination and inflammation 2 / 7739
37
(HPO:0001419) X-linked recessive inheritance 189 / 7739
38
(HPO:0002180) Neurodegeneration 31 / 7739
39
(HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
40
(OMIM) Distal axonopathy (adrenomyeloneuropathy) 2 / 7739
41
(HPO:0003676) Progressive disorder 148 / 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 ...