Categories: Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Metabolic diseases, Endocrine diseases, Blood diseases, Skin diseases
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Aliases & Descriptions for Adrenoleukodystrophy:
Orphanet epidemiological data:53
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: All ages
x-linked cerebral adrenoleukodystrophy:
Inheritance: X-linked recessive; Age of onset: All ages
Inheritance: X-linked recessive; Age of onset: Adult
Penetrance: the biochemical phenotype of elevated plasma concentration of vlcfa has nearly 100% penetrance in males. ...
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Reproductive diseases, Endocrine diseases, Blood diseases, Skin diseases
ICD10: 30 29
Rare neurological diseases
Rare infertility disorders
Inborn errors of metabolism
Rare endocrine diseases
OMIM:51 Adrenoleukodystrophy is an X-linked disorder which is secondary to a mutation in the ABCD1 gene and results in the... (300100) more...
MalaCards based summary: Adrenoleukodystrophy, also known as x-linked adrenoleukodystrophy, is related to peroxisome biogenesis disorder 9b and peroxisomal disease, and has symptoms including urinary incontinence, hypogonadism and hearing impairment. An important gene associated with Adrenoleukodystrophy is ABCD1 (ATP Binding Cassette Subfamily D Member 1), and among its related pathways are alpha-linolenic (omega3) and linoleic (omega6) acid metabolism and Nuclear receptors in lipid metabolism and toxicity. The drugs tolazoline and epoprostenol sodium have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and adrenal gland, and related mouse phenotype homeostasis/metabolism.
Disease Ontology:11 A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
Genetics Home Reference:25 X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma.
NINDS:48 X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the
UniProtKB/Swiss-Prot:69 Adrenoleukodystrophy: A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype.
Wikipedia:70 Adrenoleukodystrophy (/-ˌlu-koʊ-ˈdis-trə-fiː/; also known as X-linked adrenoleukodystrophy, ALD,... more...
GeneReviews for NBK1315
Human phenotypes related to Adrenoleukodystrophy:63 (show all 27)
UMLS symptoms related to Adrenoleukodystrophy:exanthema, pruritus, skin manifestations, oesophageal mucosa erythema, ataxia, muscle spasticity, seizures, paraparesis, absence of sensation, abnormal coordination, unspecified visual loss
Drugs for Adrenoleukodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 111)
Interventional clinical trials:(show all 35)
Search NIH Clinical Center for Adrenoleukodystrophy
Inferred drug relations via UMLS67/NDF-RT45:
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Adrenoleukodystrophy cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Adrenoleukodystrophy:
Embryonic/Adult Cultured Cells Related to Adrenoleukodystrophy:
MalaCards organs/tissues related to Adrenoleukodystrophy:35
Brain, Cortex, Adrenal gland, Adrenal cortex, Skin, Testes, Bone
Articles related to Adrenoleukodystrophy:(show top 50) (show all 699)
UniProtKB/Swiss-Prot genetic disease variations for Adrenoleukodystrophy:69 (show all 138)
Clinvar genetic disease variations for Adrenoleukodystrophy:5 (show all 54)
Search GEO for disease gene expression data for Adrenoleukodystrophy.
Pathways related to Adrenoleukodystrophy according to GeneCards Suite gene sharing:
Cellular components related to Adrenoleukodystrophy according to GeneCards Suite gene sharing:
Biological processes related to Adrenoleukodystrophy according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Adrenoleukodystrophy according to GeneCards Suite gene sharing:(show all 10)
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet