X-linked adrenoleukodystrophy
GPTKB entity
Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease peroxisomal disorder |
| gptkbp:affects |
gptkb:nervous_system
adrenal glands testes |
| gptkbp:affectsGender |
males
|
| gptkbp:carriers |
females
|
| gptkbp:characterizedBy |
accumulation of very long-chain fatty acids
|
| gptkbp:diagnosedBy |
genetic testing
measurement of very long-chain fatty acids |
| gptkbp:filmSubject |
gptkb:Lorenzo's_Oil
|
| gptkbp:firstDescribed |
1923
|
| gptkbp:form |
Addison-only phenotype
adrenomyeloneuropathy childhood cerebral form |
| gptkbp:hasBiomarker |
elevated very long-chain fatty acids
|
| gptkbp:hasNewbornScreening |
yes
|
| gptkbp:hasOrphanetID |
ORPHA:43
|
| gptkbp:hasResearchModel |
ABCD1 knockout mouse
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked adrenoleukodystrophy
|
| gptkbp:ICD-10_code |
E71.3
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:locatedOnChromosome |
gptkb:Xq28
|
| gptkbp:mutationAssociatedWith |
ABCD1 gene
|
| gptkbp:notableCase |
gptkb:Lorenzo_Odone
|
| gptkbp:OMIM |
300100
|
| gptkbp:prevalence |
1 in 17,000 males
|
| gptkbp:registration |
ALD Connect
|
| gptkbp:supportersGroup |
Stop ALD Foundation
The Myelin Project United Leukodystrophy Foundation |
| gptkbp:symptom |
behavioral changes
muscle weakness spasticity hearing loss learning disabilities vision loss seizures progressive neurological decline adrenal insufficiency hyperpigmentation |
| gptkbp:synonym |
X-ALD
adrenoleukodystrophy, X-linked |
| gptkbp:treatment |
hematopoietic stem cell transplantation
Lorenzo's oil adrenal hormone replacement |
| gptkbp:bfsParent |
gptkb:X-linked_intellectual_disability
|
| gptkbp:bfsLayer |
7
|