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Aliases & Descriptions for Adrenoleukodystrophy:
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Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Reproductive diseases, Endocrine diseases, Skin diseases
ICD10: 28 27
Rare neurological diseases
Rare infertility disorders
Inborn errors of metabolism
Rare endocrine diseases
Characteristics (Orphanet epidemiological data):51
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: All ages
Age of onset: Childhood
NIH Rare Diseases:45 X-linked adrenoleukodystrophy (x-ald) is an inherited condition that occurs mostly in males. the condition mainly affects the nervous system and the adrenal glands (small glands located on top of each kidney). people with this disorder often have progressive destruction of the fatty covering (myelin) that insulates nerves in the brain and spinal cord. they may also have a shortage of certain hormones caused by damage to the outer layer of the adrenal glands (adrenal cortex), called adrenocortical insufficiency. x-ald is caused by mutations in the abcd1 gene. these gene mutations cause a shortage (deficiency) of a protein called adrenoleukodystrophy protein (aldp). a deficiency of this protein leads to an abnormally high level of fat molecules called very long-chain fatty acids (vlcfa) to build up in the body. high levels of vlcfa may be toxic to the adrenal cortex and myelin. there are several forms of x-ald including: a childhood cerebral form, an adrenomyeloneuropathy (amn) type, and an adrenal insufficiency-only type. another form of ald is occasionally seen in women who are carriers of the condition a specific treatment for x-ald is not currently available, but eating a diet low in vlcfa and taking special oils can lower the blood levels of vlcfa. bone marrow transplantation (bmt) may be an option for boys and adolescents in early stages who have evidence of brain involvement on mri. adrenocortical insufficiency is treated with cortisone replacement. last updated: 8/6/2013
MalaCards based summary: Adrenoleukodystrophy, also known as x-linked adrenoleukodystrophy, is related to 3-methylglutaconic aciduria, type i and peroxisome disorders, and has symptoms including autosomal recessive inheritance, diffuse cerebral sclerosis and cortical visual impairment. An important gene associated with Adrenoleukodystrophy is ABCD1 (ATP-Binding Cassette, Sub-Family D (ALD), Member 1), and among its related pathways are Defective AMN causes hereditary megaloblastic anemia 1 and Cobalamin (Cbl, vitamin B12) transport and metabolism. The drugs chloroquine and chloroquine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and adrenal gland.
Disease Ontology:10 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:23 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.
OMIM:49 Adrenoleukodystrophy is an X-linked disorder which is secondary to a mutation in the ABCD1 gene and results in the... (300100) more...
NINDS:46 X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. Women have two X chromosomes and are the carriers of the disease, but since men only have one X chromosome and lack the protective effect of the extra X chromosome, they are more severely affected.
UniProtKB/Swiss-Prot:67 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.
GeneReviews summary for x-ald
HPO human phenotypes related to Adrenoleukodystrophy:(show all 32)
Drugs for Adrenoleukodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 65)
Interventional clinical trials:(show all 30)
Search NIH Clinical Center for Adrenoleukodystrophy
Inferred drug relations via UMLS65/NDF-RT43:
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:33
Brain, Cortex, Adrenal gland, Adrenal cortex, Bone, Kidney, Spinal cord
Articles related to Adrenoleukodystrophy:(show top 50) (show all 658)
UniProtKB/Swiss-Prot genetic disease variations for Adrenoleukodystrophy:67 (show all 136)
Clinvar genetic disease variations for Adrenoleukodystrophy:5 (show all 52)
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 22)
Molecular functions related to Adrenoleukodystrophy according to GeneCards Suite gene sharing:(show all 13)
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet