ALD
MCID: ADR007
MIFTS: 77

Adrenoleukodystrophy (ALD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases categories
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Summaries for Adrenoleukodystrophy

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Adrenoleukodystrophy, also known as x-linked adrenoleukodystrophy, is related to neonatal adrenoleukodystrophy and zellweger syndrome. 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:44 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 {{[uh-dree-noh-look-oh-DIST-ruh-fee]}} (also known as X-linked... more...

Description from OMIM:47 202370,300100,302700,272100

GeneReviews summary for x-ald

Aliases & Classifications for Adrenoleukodystrophy

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8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 31LifeMap Discovery‚ĄĘ, 62UMLS, 35MeSH, 58SNOMED-CT, 40NCIt, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
x-linked adrenoleukodystrophy:
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
adrenomyeloneuropathy:
Inheritance: X-linked recessive; Age of onset: Adulthood
schilder disease:
Age of onset: Childhood


Aliases & Descriptions:

adrenoleukodystrophy 8 9 65 43 22 44 47 10 45 31 62
x-linked adrenoleukodystrophy 8 19 43 21 49
schilder disease 8 21 49 47
x-ald 19 43 21 49
ald 8 43 49
siemerling-creutzfeldt disease 8 21
adrenoleukodystrophy x-linked 43 20
schilder's disease 44 49
diffuse sclerosis 8 44
addison disease and cerebral sclerosis 21
x-linked cerebral adrenoleukodystrophy 49
diffuse cerebral sclerosis of schilder 62
encephalitis periaxialis, schilder's 8
encephalitis periaxialis concentrica 8
myelinoclastic diffuse sclerosis 49
sudanophilic cerebral sclerosis 8
melanodermic leukodystrophy 21
schilder-addison complex 21
bronze schilder disease 8
adrenomyeloneuropathy 49
x-linked ald 49


External Ids:

Disease Ontology8 DOID:10588
NCIt40 C84670
ICD9CM27 341.1
MESH via Orphanet36 D000326
ICD10 via Orphanet26 E71.3, G37.0
SNOMED-CT via Orphanet59 65389002, 49692006
UMLS via Orphanet63 C0162309, C1527231
ICD1025 G37.0

Related Diseases for Adrenoleukodystrophy

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17GeneCards, 18GeneDecks
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Diseases related to Adrenoleukodystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1neonatal adrenoleukodystrophy30.9PEX5, CAT, SCP2, PEX1, PEX10, PEX6
2zellweger syndrome30.6PEX5, PEX6, PEX10, PEX1, CAT
3peroxisome disorders30.3ABCD1, ABCD3
4peroxisome biogenesis disorder 2b30.2PEX5
5refsum disease30.2CAT
6d-bifunctional protein deficiency30.1SCP2, ACOX1
7infantile refsum disease30.1CAT, PEX6, PEX1
8rhizomelic chondrodysplasia punctata29.9PEX5, ACOX1, SCP2
9zellweger spectrum29.8PEX6, PEX1, PEX5, PEX26, PEX10
10cerebritis10.8
11adrenomyeloneuropathy10.7
12pseudoneonatal adrenoleukodystrophy10.5
13childhood-onset cerebral x-linked adrenoleukodystrophy10.4
14addison's disease10.4
15leukodystrophy10.3
16peroxisomal disease10.3
17spinocerebellar degeneration10.3
18hematopoietic stem cell transplantation10.3
19metachromatic leukodystrophy10.2
20peroxisomal acyl-coa oxidase deficiency10.2
21multiple sclerosis10.2
22spasticity10.2
23olivopontocerebellar atrophy10.1
24spastic paraparesis10.1
25peroxisome biogenesis disorder 1a10.1
26adrenocortical insufficiency10.1
27adrenomyeloneuropathy, adult10.1
28peripheral vascular disease10.1
29neuromyelitis optica10.1
30meningitis10.1
31angiomatosis10.1
32mulibrey nanism10.1PEX5
33dementia10.1
34chondrodysplasia10.1
35wallerian degeneration10.1
36rhizomelic chondrodysplasia punctata type 110.0ACOX1, SCP2
37autonomic neuropathy10.0
38cervicitis10.0
39hypothyroidism10.0
40stroke, ischemic10.0
41critical limb ischemia10.0
42diastolic heart failure10.0
43wiskott-aldrich syndrome10.0
44intermittent claudication10.0
45liver disease10.0
46malignant glioma10.0
47albinism deafness syndrome10.0
48congenital generalized lipodystrophy10.0
49lipodystrophy10.0
50neurofibromatosis9.9

Graphical network of the top 20 diseases related to Adrenoleukodystrophy:



Diseases related to adrenoleukodystrophy

Symptoms for Adrenoleukodystrophy

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47OMIM
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Symptoms by clinical synopsis from OMIM:

272100

Clinical features from OMIM:

202370,300100,302700,272100

Drugs & Therapeutics for Adrenoleukodystrophy

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery‚ĄĘ, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Adrenoleukodystrophy

Search NIH Clinical Center for Adrenoleukodystrophy

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Adrenoleukodystrophy cell therapies at LifeMap Discovery.

Genetic Tests for Adrenoleukodystrophy

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20GeneTests, 22GTR
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Genetic tests related to Adrenoleukodystrophy:

id Genetic test Affiliating Genes
1 Adrenoleukodystrophy, X-Linked20 ABCD1
2 Adrenoleukodystrophy22

Anatomical Context for Adrenoleukodystrophy

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33MalaCards
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MalaCards organs/tissues related to Adrenoleukodystrophy:

33
Brain, Cortex, Adrenal cortex, Testes, Adrenal gland, Bone, Bone marrow, Kidney, Spinal cord, Skin, Liver, Thyroid, Monocytes, T cells, Cerebellum

Animal Models for Adrenoleukodystrophy or affiliated genes

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Publications for Adrenoleukodystrophy

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52PubMed
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Articles related to Adrenoleukodystrophy:

(show top 50)    (show all 600)
idTitleAuthorsYear
1
Pathophysiology of X-linked adrenoleukodystrophy. (24316281)
2013
2
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. (22889154)
2012
3
Neonatal adrenoleukodystrophy: a clinical, pathologic, and biochemical study. (23044013)
2012
4
No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy. (22388279)
2012
5
Bezafibrate for X-linked adrenoleukodystrophy. (22911730)
2012
6
Brain fludeoxyglucose F 18 positron emission tomography hypometabolism in magnetic resonance imaging-negative x-linked adrenoleukodystrophy. (21987553)
2011
7
Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family. (21264817)
2011
8
Correlating quantitative MR imaging with histopathology in X-linked adrenoleukodystrophy. (21273354)
2011
9
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. (21700483)
2011
10
Diffusion-weighted Magnetic Resonance Imaging in the Early Diagnosis of Neonatal Adrenoleukodystrophy. (21966617)
2011
11
Fast diffusion of very long chain saturated fatty acids across a bilayer membrane and their rapid extraction by cyclodextrins: implications for adrenoleukodystrophy. (19801636)
2009
12
Rapid exacerbation in an elderly case of adult-onset X-linked adrenoleukodystrophy with cerebral corticospinal tract involvement. (18332258)
2008
13
Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy. (18212787)
2008
14
Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency. (17828604)
2007
15
Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy. (17602313)
2007
16
Phenotypes of female adrenoleukodystrophy. (17372139)
2007
17
Diagnosis of X-linked adrenoleukodystrophy in blood leukocytes. (17524384)
2007
18
Virchow-Robin spaces on magnetic resonance images of children with adrenoleukodystrophy. (17254818)
2007
19
Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophy. (17531776)
2007
20
X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism. (16213491)
2005
21
Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5]. (12579499)
2003
22
Adult-onset dementia with prominent frontal lobe dysfunction in X-linked adrenoleukodystrophy with R152C mutation in ABCD1 gene. (14586615)
2003
23
Thyroid hormone induction of the adrenoleukodystrophy-related gene (ABCD2). (12761339)
2003
24
Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice. (12668127)
2003
25
Biochemical effect of intravenous arginine butyrate in X-linked adrenoleukodystrophy. (12838202)
2003
26
Images in neuroscience: 2. Adrenoleukodystrophy. (11922705)
2002
27
Voiding dysfunction in a patient with adolescent adrenoleukodystrophy. (11260344)
2001
28
Adrenoleukodystrophy mimicking multiple sclerosis]. (11688182)
2001
29
Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy. (11336405)
2001
30
Novel acyl-CoA synthetase in adrenoleukodystrophy target tissues. (11112418)
2000
31
Adrenoleukodystrophy associated with psychosis. (11184478)
2000
32
Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. (10546790)
1999
33
Late-onset adrenoleukodystrophy associated with long-standing psychiatric symptoms. (10453801)
1999
34
The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder. (10088993)
1999
35
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes. (10227685)
1999
36
X-linked adrenoleukodystrophy: the Australasian experience. (9556302)
1998
37
Splicing error due to a splice acceptor site mutation in the ALD gene identified in a Japanese childhood cerebral adrenoleukodystrophy case. (9846054)
1998
38
Adrenoleukodystrophy: unusual clinical and radiographic manifestation. (9715229)
1998
39
Intrathecal IgA synthesis in X-linked cerebral adrenoleukodystrophy. (9378899)
1997
40
Atypical presentation of X-linked childhood adrenoleukodystrophy with an unusual magnetic resonance imaging pattern. (9120233)
1996
41
Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts. (7878038)
1995
42
A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study. (7876858)
1995
43
X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. (7811247)
1994
44
Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata. (8353949)
1993
45
Magnetic resonance imaging in adrenoleukodystrophy presenting as spinocerebellar degeneration. (2391533)
1990
46
Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy. (2879480)
1986
47
Adrenal and testicular function in 14 patients with adrenoleukodystrophy or adrenomyeloneuropathy. (3019858)
1986
48
Multimodality evoked potentials in patients and carriers with adrenoleukodystrophy and adrenomyeloneuropathy. (2578374)
1985
49
Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. (6517102)
1984
50
Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy. (6874949)
1983

Variations for Adrenoleukodystrophy

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Adrenoleukodystrophy:

64 (show all 136)
id Symbol AA change Variation ID SNP ID
1ABCD1p.Ser98LeuVAR_000024
2ABCD1p.Arg104CysVAR_000025
3ABCD1p.Arg104HisVAR_000026
4ABCD1p.Thr105IleVAR_000027
5ABCD1p.Leu107ProVAR_000028
6ABCD1p.Ser108TrpVAR_000029
7ABCD1p.Gly116ArgVAR_000030
8ABCD1p.Ala141ThrVAR_000033
9ABCD1p.Asn148SerVAR_000034
10ABCD1p.Ser149AsnVAR_000035
11ABCD1p.Arg152CysVAR_000036
12ABCD1p.Arg152ProVAR_000037
13ABCD1p.Arg163HisVAR_000038
14ABCD1p.Tyr174AspVAR_000039
15ABCD1p.Tyr174SerVAR_000040
16ABCD1p.Gln178GluVAR_000041
17ABCD1p.Tyr181CysVAR_000042
18ABCD1p.Arg182ProVAR_000043
19ABCD1p.Asp194HisVAR_000044
20ABCD1p.Asp200ValVAR_000045
21ABCD1p.Leu211ProVAR_000046
22ABCD1p.Leu220ProVAR_000047
23ABCD1p.Asp221GlyVAR_000048
24ABCD1p.Thr254MetVAR_000049
25ABCD1p.Thr254ProVAR_000050
26ABCD1p.Pro263LeuVAR_000051
27ABCD1p.Gly266ArgVAR_000052
28ABCD1p.Lys276GluVAR_000053
29ABCD1p.Gly277ArgVAR_000054
30ABCD1p.Gly277TrpVAR_000056
31ABCD1p.Glu291AspVAR_000057
32ABCD1p.Glu291LysVAR_000058
33ABCD1p.Ala294ThrVAR_000060
34ABCD1p.Ser342ProVAR_000061
35ABCD1p.Arg389GlyVAR_000062
36ABCD1p.Arg389HisVAR_000063
37ABCD1p.Arg401GlnVAR_000064
38ABCD1p.Arg418TrpVAR_000065
39ABCD1p.Pro484ArgVAR_000066
40ABCD1p.Gly507ValVAR_000067
41ABCD1p.Gly512SerVAR_000068
42ABCD1p.Ser515PheVAR_000069
43ABCD1p.Arg518GlnVAR_000070
44ABCD1p.Arg518TrpVAR_000071
45ABCD1p.Gly522TrpVAR_000072
46ABCD1p.Pro534LeuVAR_000074
47ABCD1p.Pro560LeuVAR_000075
48ABCD1p.Pro560ArgVAR_000076
49ABCD1p.Met566LysVAR_000077
50ABCD1p.Arg591GlnVAR_000078
51ABCD1p.Ser606LeuVAR_000079
52ABCD1p.Ser606ProVAR_000080
53ABCD1p.Glu609GlyVAR_000081
54ABCD1p.Glu609LysVAR_000082
55ABCD1p.Arg617CysVAR_000083
56ABCD1p.Arg617GlyVAR_000084
57ABCD1p.Arg617HisVAR_000085
58ABCD1p.Ala626ThrVAR_000086
59ABCD1p.Asp629HisVAR_000087
60ABCD1p.Arg660TrpVAR_000089
61ABCD1p.Trp679ArgVAR_000090
62ABCD1p.Glu90LysVAR_009349
63ABCD1p.Ser103ArgVAR_009350
64ABCD1p.Thr105ProVAR_009351
65ABCD1p.Ser108LeuVAR_009352
66ABCD1p.Arg113CysVAR_009353
67ABCD1p.Pro143SerVAR_009354
68ABCD1p.Arg152LeuVAR_009355
69ABCD1p.Arg152SerVAR_009356
70ABCD1p.Ser161ProVAR_009357
71ABCD1p.Arg163ProVAR_009358
72ABCD1p.Tyr174CysVAR_009359
73ABCD1p.Arg189TrpVAR_009360
74ABCD1p.Leu190ProVAR_009361
75ABCD1p.Thr198LysVAR_009362
76ABCD1p.Asp200AsnVAR_009363
77ABCD1p.Ser213CysVAR_009364
78ABCD1p.Asn214AspVAR_009365
79ABCD1p.Pro218ThrVAR_009366
80ABCD1p.Leu229ProVAR_009367
81ABCD1p.Glu271LysVAR_009368
82ABCD1p.Arg285ProVAR_009369
83ABCD1p.Tyr296CysVAR_009370
84ABCD1p.Gly298AspVAR_009371
85ABCD1p.Glu302LysVAR_009372
86ABCD1p.Leu322ProVAR_009373
87ABCD1p.Lys336MetVAR_009374
88ABCD1p.Arg401TrpVAR_009375
89ABCD1p.Gly529SerVAR_009376
90ABCD1p.Phe540SerVAR_009377
91ABCD1p.Pro543LeuVAR_009378
92ABCD1p.Gln544ArgVAR_009379
93ABCD1p.Ser552ProVAR_009380
94ABCD1p.Arg554HisVAR_009381
95ABCD1p.Arg591TrpVAR_009382
96ABCD1p.Ala616ValVAR_009383
97ABCD1p.Glu630GlyVAR_009384
98ABCD1p.Cys631TyrVAR_009385
99ABCD1p.Ser633ArgVAR_009386
100ABCD1p.Ser636IleVAR_009387
101ABCD1p.Asp638TyrVAR_009388
102ABCD1p.Ala646ProVAR_009389
103ABCD1p.Leu654ProVAR_009390
104ABCD1p.His667AspVAR_009391
105ABCD1p.Thr668IleVAR_009392
106ABCD1p.Thr693MetVAR_009393
107ABCD1p.Ala99AspVAR_013341
108ABCD1p.Arg113ProVAR_013342
109ABCD1p.Lys217GluVAR_013344
110ABCD1p.Val224GluVAR_013345
111ABCD1p.Arg274TrpVAR_013346
112ABCD1p.Arg280CysVAR_013347
113ABCD1p.Trp339ArgVAR_013349
114ABCD1p.Gly343AspVAR_013350
115ABCD1p.Gln556ArgVAR_013352
116ABCD1p.Pro560SerVAR_013353
117ABCD1p.Arg591ProVAR_013354
118ABCD1p.Gly608AspVAR_013355
119ABCD1p.Ala626AspVAR_013356
120ABCD1p.Thr632IleVAR_013357
121ABCD1p.Ser633IleVAR_013358
122ABCD1p.Val635MetVAR_013359
123ABCD1p.Arg660ProVAR_013360
124ABCD1p.Cys88TrpVAR_023004
125ABCD1p.Gly343SerVAR_023005
126ABCD1p.Leu503ProVAR_023006
127ABCD1p.Ser514ArgVAR_023007
128ABCD1p.Thr198ArgVAR_067240
129ABCD1p.Gly266GluVAR_067241
130ABCD1p.Leu523PheVAR_067242
131ABCD1p.Phe540CysVAR_067243
132ABCD1p.Thr632ProVAR_067244
133ABCD1p.Glu640LysVAR_067245
134ABCD1p.Gly677AspVAR_067246
135ABCD1p.Leu516ProVAR_067328
136ABCD1p.Arg660GlnVAR_067329

Clinvar genetic disease variations for Adrenoleukodystrophy:

1 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1ABCD1NM_000033.3(ABCD1): c.871G> A (p.Glu291Lys)single nucleotide variantPathogenicrs128624213GRCh37Chr X, 152991592: 152991592
2ABCD1NM_000033.3(ABCD1): c.1451C> G (p.Pro484Arg)single nucleotide variantPathogenicrs128624214GRCh37Chr X, 153002668: 153002668
3ABCD1ABCD1, IVS6AS, A-G, -2single nucleotide variantPathogenic
4ABCD1ABCD1, IVS8AS, G-A, -10, 8-BP INSinsertionPathogenic
5ABCD1NM_000033.3(ABCD1): c.1165C> G (p.Arg389Gly)single nucleotide variantPathogenicrs128624215GRCh37Chr X, 153001649: 153001649
6ABCD1NM_000033.3(ABCD1): c.443A> G (p.Asn148Ser)single nucleotide variantPathogenicrs128624216GRCh37Chr X, 152991164: 152991164
7ABCD1NM_000033.3(ABCD1): c.520T> G (p.Tyr174Asp)single nucleotide variantPathogenicrs128624217GRCh37Chr X, 152991241: 152991241
8ABCD1NM_000033.3(ABCD1): c.796G> A (p.Gly266Arg)single nucleotide variantPathogenicrs128624218GRCh37Chr X, 152991517: 152991517
9ABCD1NM_000033.3(ABCD1): c.1202G> A (p.Arg401Gln)single nucleotide variantPathogenicrs128624219GRCh37Chr X, 153001686: 153001686
10ABCD1NM_000033.3(ABCD1): c.1252C> T (p.Arg418Trp)single nucleotide variantPathogenicrs128624220GRCh37Chr X, 153001826: 153001826
11ABCD1NM_000033.3(ABCD1): c.1390C> T (p.Arg464Ter)single nucleotide variantPathogenicrs128624221GRCh37Chr X, 153001964: 153001964
12ABCD1NM_000033.3(ABCD1): c.1415_1416delAG (p.Gln472Argfs)deletionPathogenicrs387906494GRCh37Chr X, 153002632: 153002633
13ABCD1NM_000033.3(ABCD1): c.1429G> T (p.Glu477Ter)single nucleotide variantPathogenicrs128624222GRCh37Chr X, 153002646: 153002646
14ABCD1NM_000033.3(ABCD1): c.1544C> T (p.Ser515Phe)single nucleotide variantPathogenicrs128624223GRCh37Chr X, 153005601: 153005601
15ABCD1NM_000033.3(ABCD1): c.1552delC (p.Arg518Glyfs)deletionPathogenicrs387906495GRCh37Chr X, 153005609: 153005609
16ABCD1NM_000033.3(ABCD1): c.1552C> T (p.Arg518Trp)single nucleotide variantPathogenicrs128624224GRCh37Chr X, 153005609: 153005609
17ABCD1ABCD1, IVS6DS, G-A, +1single nucleotide variantPathogenic
18ABCD1ABCD1, 2-BP DEL, 2177TAdeletionPathogenic
19ABCD1NM_000033.3(ABCD1): c.1850G> A (p.Arg617His)single nucleotide variantPathogenicrs11146842GRCh37Chr X, 153008510: 153008510
20ABCD1NM_000033.3(ABCD1): c.1849C> T (p.Arg617Cys)single nucleotide variantPathogenicrs4010613GRCh37Chr X, 153008509: 153008509
21ABCD1NM_000033.3(ABCD1): c.871_873delGAG (p.Glu292del)deletionPathogenicrs387906496GRCh37Chr X, 152991592: 152991594
22ABCD1ABCD1, IVS8DS, G-A, +1single nucleotide variantPathogenic
23ABCD1ABCD1, IVS1DS, G-A, -1single nucleotide variantPathogenic
24ABCD1NM_000033.3(ABCD1): c.-18_8del26 (p.Met1_Gly66del)deletionPathogenicrs387906497GRCh37Chr X, 152990704: 152990729
25ABCD1NM_000033.3(ABCD1): c.421G> A (p.Ala141Thr)single nucleotide variantPathogenicrs193922097GRCh37Chr X, 152991142: 152991142

Expression for genes affiliated with Adrenoleukodystrophy

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Adrenoleukodystrophy

Search GEO for disease gene expression data for Adrenoleukodystrophy.

Pathways for genes affiliated with Adrenoleukodystrophy

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Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome
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Compounds for genes affiliated with Adrenoleukodystrophy

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Sources:
45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Adrenoleukodystrophy according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1salicylhydroxamic acid4510.0CAT, ACOX1
2clofibric acid4510.0CAT, ACOX1
3ciprofibrate45 2910.9CAT, ACOX1
4ubiquinone459.9CAT, ACOX1
5Hydrogen peroxide249.9CAT, ACOX1
6tripeptide459.8PEX5, ACOX1
7quinone45 2410.8CAT, ACOX1
8manganese superoxide459.8CAT, ABCD1
9carboxylate459.7SCP2, ACOX1
10xanthine45 2410.6CAT, ACOX1
11phytanic acid459.6SCP2, CAT
12menadione45 24 1111.4CAT, ACOX1
13fatty acid458.7ABCD1, ABCD4, ABCD3, SCP2, ACOX1
14acyl-coa458.2ACOX1, ABCD1, ABCD3, PEX5, PEX6, SCP2
15atp45 299.0ABCD1, ABCB6, ABCD3, PEX5, PEX6, ACOX1
16lipid457.1ABCD1, ABCB6, ABCD3, PEX5, PEX1, SCP2

GO Terms for genes affiliated with Adrenoleukodystrophy

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Sources:
16Gene Ontology
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Cellular components related to Adrenoleukodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of peroxisomal membraneGO:0057799.6PEX10, PEX26, ABCD1
2ATP-binding cassette (ABC) transporter complexGO:0431909.3ABCD4, ABCB6
3intracellular membrane-bounded organelleGO:0432318.5CAT, SCP2, PEX1, ABCD3
4peroxisomal matrixGO:0057828.4ABCD3, PEX5, SCP2, ACOX1, CAT
5cytosolGO:0058298.1CAT, PEX1, PEX6, PEX5, ABCD3, ABCD1
6mitochondrionGO:0057397.8ABCD1, ABCB6, PEX5, SCP2, ACOX1
7peroxisomal membraneGO:0057787.2ACOX1, PEX1, PEX10, PEX6, PEX5, ABCD3
8peroxisomeGO:0057776.2CAT, ABCD1, ABCD4, ACOX1, SCP2, PEX1

Biological processes related to Adrenoleukodystrophy according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1very long-chain fatty acid metabolic processGO:00003810.0ACOX1, PEX5
2very long-chain fatty acid catabolic processGO:0427609.9ABCD3, ABCD1
3protein import into peroxisome membraneGO:0450469.9PEX5, PEX26
4cobalamin metabolic processGO:0092359.8ABCD4, AMN
5protein import into peroxisome matrix, translocationGO:0165619.8PEX6, PEX5
6protein tetramerizationGO:0512629.7CAT, PEX5
7alpha-linolenic acid metabolic processGO:0361099.6ABCD1, SCP2, ACOX1
8unsaturated fatty acid metabolic processGO:0335599.6ABCD1, SCP2, ACOX1
9protein targeting to peroxisomeGO:0066259.6PEX1, PEX6, PEX5
10fatty acid beta-oxidationGO:0066359.6ABCD1, ABCD3, PEX5
11fatty acid beta-oxidation using acyl-CoA oxidaseGO:0335409.6ABCD1, SCP2, ACOX1
12protein import into peroxisome matrixGO:0165589.4PEX5, PEX26, PEX10, PEX1
13cellular lipid metabolic processGO:0442559.4ACOX1, SCP2, ABCD1
14ATP catabolic processGO:0062009.1PEX1, PEX6, ABCD3, ABCD1
15transmembrane transportGO:0550858.4ABCD3, ABCB6, ABCD4, ABCD1
16small molecule metabolic processGO:0442818.3ABCD1, SCP2, AMN, ACOX1, CAT
17peroxisome organizationGO:0070318.2SCP2, PEX1, PEX10, PEX6, ABCD3, ABCD1

Molecular functions related to Adrenoleukodystrophy according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupledGO:0426239.7PEX6, PEX1
2ATPase activity, coupled to transmembrane movement of substancesGO:0426269.5ABCD1, ABCD4, ABCD3
3ATPase activityGO:0168879.2PEX6, ABCD3, ABCD1
4protein complex bindingGO:0324039.1PEX1, PEX6, PEX26
5enzyme bindingGO:0198999.1ABCD1, PEX5, CAT
6receptor bindingGO:0051029.0SCP2, AMN, ACOX1, CAT
7protein C-terminus bindingGO:0080228.8PEX1, PEX10, PEX6, PEX26, PEX5
8ATP bindingGO:0055247.8PEX1, PEX6, ABCD3, ABCB6, ABCD4, ABCD1
9protein bindingGO:0055157.2SCP2, PEX1, PEX10, PEX6, PEX26, PEX5

Products for genes affiliated with Adrenoleukodystrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adrenoleukodystrophy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet