Adrenoleukodystrophy (ALD)

Alias:
X-Linked Adrenoleukodystrophy
Ald
X-Ald
Siemerling-Creutzfeldt Disease
Bronze Schilder Disease
Addison Disease and Cerebral Sclerosis
Adrenomyeloneuropathy, Adult
Melanodermic Leukodystrophy
Adrenomyeloneuropathy
Diffuse Sclerosis
X-Linked Ald
Diffuse Cerebral Sclerosis of Schilder
Encephalitis Periaxialis Concentrica
Encephalitis Periaxialis, Schilder's
Sudanophilic Cerebral Sclerosis
Adrenoleukodystrophy, X-Linked
Ald - [adrenoleukodystrophy]
Balo's Concentric Sclerosis
Systemic Scleroderma
Addison-Schilder
Amn
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Adrenoleukodystrophy, also known as x-linked adrenoleukodystrophy, is related to peroxisomal acyl-coa oxidase deficiency and neonatal adrenoleukodystrophy, and has symptoms including exanthema, pruritus and hidebound skin. An important gene associated with Adrenoleukodystrophy is ABCD1 (ATP Binding Cassette Subfamily D Member 1), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Dopamine and Pramipexole have been mentioned in the context of this disorder. Affiliated tissues include adrenal cortex and spinal cord, and related phenotypes are intellectual disability and gait disturbance
Related ID:
MESH:D000326
ICD11:1085655586

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
All ages
1-9/1000000
44
309
342

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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