Adrenoleukodystrophy

Preferred Label : Adrenoleukodystrophy;

Symbol : ALD;

CISMeF acronym : ALD; AMN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Addison disease and cerebral sclerosis; Siemerling-creutzfeldt disease; Bronze schilder disease; Melanodermic leukodystrophy;

Included titles and symbols : Adrenomyeloneuropathy; AMN;

Description : 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 all tissues of the body. The manifestations of the disorder occur primarily in the adrenal cortex, the myelin of the central nervous system, and the Leydig cells of the testes.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily D, member 1 gene (ABCD1, 300371.0001);

Laboratory abnormalities : Systemic accumulation of very long chain fatty acids (VLCFA);

Prefixed ID : #300100;

Details

Origin ID

300100;

UMLS CUI

C0162309;

Automatic exact mappings (from CISMeF team)
- ABCD1 wt Allele [NCIt concept]
- ATP binding cassette subfamily D member 1 [ORDO Gene]
- Adrenomyeloneuropathy [ICD-11 More detail]
- Adrenomyeloneuropathy [ORDO Disease]
- Alcoholic liver disease [ICD-11 Category]
- Aldolase [MedDRA Preferred Term]
- Aldolase [LOINC component]
- N-Amyl-N-Methylnitrosoamine [NCIt concept]
- X-linked adrenoleukodystrophy [LOINC component]
- X-linked cerebral adrenoleukodystrophy [ORDO Disease]
- adrenomyeloneuropathy [MeSH concept]
- amnion associated transmembrane protein [ORDO Gene]
- chronic disease [MeSH Descriptor]
- fructose-bisphosphate aldolase [SNOMED Notion]
- fructose-bisphosphate aldolase [MeSH Descriptor]
- symbol withdrawn ALD [HGNC gene]
Currated CISMeF NLP mapping
- Adrenoleukodystrophy [PASCAL descriptor]
- Adrenoleukodystrophy [MedDRA Preferred Term]
- Adrenoleukodystrophy [NCIt concept]
- Adrenoleukodystrophy (disorder) [SNOMED CT concept]
- X-linked adrenoleukodystrophy [ICD-11 More detail]
- X-linked adrenoleukodystrophy [ORDO Disease]
- adrenoleukodystrophy [DO Concept]
- adrenoleukodystrophy [MeSH Descriptor]
- adrenoleukodystrophy [MeSH concept]
- adrenoleukodystrophy [SNOMED Notion]
- leukodystrophies [MedlinePlus Topic]
DO Cross reference
- adrenoleukodystrophy [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily D, member 1 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Alopecia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Behavioral abnormality [HPO term]
- Blindness [HPO term]
- Bowel incontinence [HPO term]
- Bulbar palsy [HPO term]
- Dementia [HPO term]
- Elevated circulating long chain fatty acid concentration [HPO term]
- Hearing impairment [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypogonadism [HPO term]
- Impaired vibration sensation at ankles [HPO term]
- Impotence [HPO term]
- Incoordination [HPO term]
- Limb and truncal ataxia [HPO term]
- Limb ataxia [HPO term]
- Loss of speech [HPO term]
- Lower limb muscle weakness [HPO term]
- Mental deterioration [HPO term]
- Neurodegeneration [HPO term]
- Paraparesis [HPO term]
- Polyneuropathy [HPO term]
- Primary adrenal insufficiency [HPO term]
- Progressive [HPO term]
- Psychosis [HPO term]
- Seizure [HPO term]
- Slurred speech [HPO term]
- Spastic paraplegia [HPO term]
- Sphincter disturbance [HPO term]
- Truncal ataxia [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
- Urinary incontinence [HPO term]
- Visual loss [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Adrenomyeloneuropathy [ORDO Disease]
- X-linked adrenoleukodystrophy [ORDO Disease]
- X-linked cerebral adrenoleukodystrophy [ORDO Disease]
See also inter- (CISMeF)
- Addison disease [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adrenoleukodystrophy [NCIt concept]
- Adrenoleukodystrophy [MedDRA Preferred Term]
- Adrenoleukodystrophy (disorder) [SNOMED CT concept]
- X-linked adrenoleukodystrophy [ORDO Disease]
- X-linked adrenoleukodystrophy [ICD-11 More detail]
- X-linked adrenoleukodystrophy [LOINC component]
- adrenoleukodystrophy [SNOMED Notion]
- adrenoleukodystrophy [MeSH Descriptor]
- adrenoleukodystrophy [MeSH concept]
- adrenoleukodystrophy [DO Concept]
Validated automatic mappings to NTBT
- Adrenoleukodystrophy [ICD-11 Subcategory]
- leukodystrophy [DO Concept]

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