Adrenoleukodystrophy (ALD) malady
Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Metabolic diseases, Endocrine diseases categories
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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 65Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 refsum disease and peroxisome biogenesis disorder 2b, and has symptoms including An important gene associated with Adrenoleukodystrophy is ABCD1 (ATP-binding cassette, sub-family D (ALD), member 1), and among its related pathways are PPAR signaling pathway and Peroxisomal lipid metabolism. The compounds salicylhydroxamic acid and clofibric acid have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and adrenal cortex.
Disease Ontology:8 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:21 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:43 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.
Wikipedia:65 Adrenoleukodystrophy (also known as X-linked adrenoleukodystrophy, ALD, X-ALD, adrenomyeloneuropathy,... more...
Descriptions from OMIM:46 202370,300100,302700,272100
GeneReviews summary for x-ald
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Adrenoleukodystrophy, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Reproductive diseases, Endocrine diseases
ICD10: 26 25
Rare neurological diseases
Rare infertility disorders
Inborn errors of metabolism
Rare endocrine diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Variable
x-linked cerebral adrenoleukodystrophy:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Variable
Inheritance: X-linked recessive; Age of onset: Adulthood
Age of onset: Childhood
Symptoms by clinical synopsis from OMIM:272100
Clinical features from OMIM:202370,300100,302700,272100
HPO human phenotypes related to Adrenoleukodystrophy:(show all 32)
Drug clinical trials:
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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:32
Brain, Cortex, Adrenal cortex, Adrenal gland, Testes, Spinal cord, Kidney, Bone, Bone marrow, Skin, Liver, Cerebellum, Thyroid, Monocytes, T cells
Articles related to Adrenoleukodystrophy:(show top 50) (show all 620)
UniProtKB/Swiss-Prot genetic disease variations for Adrenoleukodystrophy:64 (show all 136)
Clinvar genetic disease variations for Adrenoleukodystrophy:6 (show all 28)
Search GEO for disease gene expression data for Adrenoleukodystrophy.
Pathways related to Adrenoleukodystrophy according to GeneCards/GeneDecks:
Compounds related to Adrenoleukodystrophy according to GeneCards/GeneDecks:(show all 16)
Cellular components related to Adrenoleukodystrophy according to GeneCards/GeneDecks:
Biological processes related to Adrenoleukodystrophy according to GeneCards/GeneDecks:(show all 17)
Molecular functions related to Adrenoleukodystrophy according to GeneCards/GeneDecks:(show all 9)
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet