ALD
MCID: ADR007
MIFTS: 78

Adrenoleukodystrophy (ALD) malady

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

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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

Aliases & Classifications for Adrenoleukodystrophy

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Sources:
30LifeMap Discovery¬ģ, 8Disease Ontology, 9diseasecard, 65Wikipedia, 42NIH Rare Diseases, 22GTR, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 62UMLS, 21Genetics Home Reference, 48Orphanet, 19GeneReviews, 20GeneTests, 57SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Adrenoleukodystrophy, Aliases & Descriptions:

Name: Adrenoleukodystrophy 30 8 9 65 42 22 43 46 10 44 62
X-Linked Adrenoleukodystrophy 8 19 42 21 48 62
Schilder Disease 8 21 48 46
X-Ald 19 42 21 48
Siemerling-Creutzfeldt Disease 8 21 62
Ald 8 42 48
Encephalitis Periaxialis Concentrica 8 62
Myelinoclastic Diffuse Sclerosis 48 62
Adrenoleukodystrophy X-Linked 42 20
Melanodermic Leukodystrophy 21 62
Schilder-Addison Complex 21 62
 
Bronze Schilder Disease 8 62
Adrenomyeloneuropathy 48 62
Schilder's Disease 43 48
Diffuse Sclerosis 8 43
Addison Disease and Cerebral Sclerosis 21
Diffuse Cerebral Sclerosis of Schilder 62
X-Linked Cerebral Adrenoleukodystrophy 48
Encephalitis Periaxialis, Schilder's 8
Sudanophilic Cerebral Sclerosis 8
X-Linked Ald 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

Disease Ontology8 DOID:10588
NCIt39 C84670
ICD9CM27 341.1
MESH via Orphanet35 D000326
ICD10 via Orphanet26 E71.3, G37.0
UMLS via Orphanet63 C0162309, C1527231
ICD1025 G37.0

Related Diseases for Adrenoleukodystrophy

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

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1refsum disease30.7CAT
2peroxisome biogenesis disorder 2b30.5PEX5
3zellweger syndrome30.4PEX5, PEX6, PEX10, PEX1, CAT
4d-bifunctional protein deficiency30.2SCP2, ACOX1
5peroxisome disorders30.2ABCD3, ABCD1
6zellweger spectrum30.0PEX5, PEX26, PEX6, PEX10, PEX1
7rhizomelic chondrodysplasia punctata29.9ACOX1, SCP2, PEX5
8peroxisomal acyl-coa oxidase deficiency29.7PEX5, CAT, SCP2, PEX1, PEX10, PEX6
9cerebritis10.8
10neonatal adrenoleukodystrophy10.7
11adrenomyeloneuropathy10.7
12childhood-onset cerebral x-linked adrenoleukodystrophy10.5
13pseudoneonatal adrenoleukodystrophy10.5
14addison's disease10.4
15leukodystrophy10.3
16mulibrey nanism10.3PEX5
17hematopoietic stem cell transplantation10.3
18multiple sclerosis10.3
19peroxisomal disease10.3
20spinocerebellar degeneration10.3
21metachromatic leukodystrophy10.2
22spasticity10.2
23olivopontocerebellar atrophy10.2
24spastic paraparesis10.2
25peroxisome biogenesis disorder 11b10.2
26peroxisome biogenesis disorder 1a10.2
27adrenocortical insufficiency10.2
28adrenomyeloneuropathy, adult10.2
29peripheral vascular disease10.2
30albinism deafness syndrome10.2
31rhizomelic chondrodysplasia punctata type 110.1ACOX1, SCP2
32neuromyelitis optica10.1
33meningitis10.1
34angiomatosis10.1
35infantile refsum disease10.1
36dementia10.1
37chondrodysplasia10.1
38wallerian degeneration10.1
39autonomic neuropathy10.0
40cervicitis10.0
41hypothyroidism10.0
42stroke, ischemic10.0
43critical limb ischemia10.0
44intermittent claudication10.0
45liver disease10.0
46malignant glioma10.0
47wiskott-aldrich syndrome10.0
48diastolic heart failure10.0
49refsum disease, infantile form10.0PEX6, PEX1, CAT
50congenital generalized lipodystrophy10.0

Graphical network of the top 20 diseases related to Adrenoleukodystrophy:



Diseases related to adrenoleukodystrophy

Symptoms for Adrenoleukodystrophy

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Symptoms by clinical synopsis from OMIM:

272100

Clinical features from OMIM:

202370,300100,302700,272100

HPO human phenotypes related to Adrenoleukodystrophy:

(show all 32)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 diffuse cerebral sclerosis HP:0006918
3 cortical visual impairment HP:0100704
4 urinary incontinence HP:0000020
5 hypogonadism HP:0000135
6 hearing impairment HP:0000365
7 visual loss HP:0000572
8 blindness HP:0000618
9 psychosis HP:0000709
10 dementia HP:0000726
11 impotence HP:0000802
12 abnormality of the skeletal system HP:0000924
13 hyperpigmentation of the skin HP:0000953
14 seizures HP:0001250
15 spastic paraplegia HP:0001258
16 polyneuropathy HP:0001271
17 bulbar palsy HP:0001283
18 slurred speech HP:0001350
19 x-linked recessive inheritance HP:0001419
20 limb ataxia HP:0002070
21 truncal ataxia HP:0002078
22 neurodegeneration HP:0002180
23 incoordination HP:0002311
24 loss of speech HP:0002371
25 paraparesis HP:0002385
26 abnormality of the cerebral white matter HP:0002500
27 bowel incontinence HP:0002607
28 urinary bladder sphincter dysfunction HP:0002839
29 elevated long chain fatty acids HP:0003455
30 progressive disorder HP:0003676
31 attention deficit hyperactivity disorder HP:0007018
32 primary adrenal insufficiency HP:0008207

Drugs & Therapeutics for Adrenoleukodystrophy

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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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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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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

Animal Models for Adrenoleukodystrophy or affiliated genes

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Publications for Adrenoleukodystrophy

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Articles related to Adrenoleukodystrophy:

(show top 50)    (show all 620)
idTitleAuthorsYear
1
Lipoid pneumonia as a complication of Lorenzo's oil therapy in a patient with adrenoleukodystrophy. (24992138)
2014
2
The stability of hexacosanoyl lysophosphatidylcholine in dried-blood spot quality control materials for X-linked adrenoleukodystrophy newborn screening. (25307302)
2014
3
Pathophysiology of X-linked adrenoleukodystrophy. (24316281)
2013
4
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. (22889154)
2012
5
Neonatal adrenoleukodystrophy: a clinical, pathologic, and biochemical study. (23044013)
2012
6
No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy. (22388279)
2012
7
Bezafibrate for X-linked adrenoleukodystrophy. (22911730)
2012
8
Brain fludeoxyglucose F 18 positron emission tomography hypometabolism in magnetic resonance imaging-negative x-linked adrenoleukodystrophy. (21987553)
2011
9
Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family. (21264817)
2011
10
Correlating quantitative MR imaging with histopathology in X-linked adrenoleukodystrophy. (21273354)
2011
11
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. (21700483)
2011
12
Diffusion-weighted Magnetic Resonance Imaging in the Early Diagnosis of Neonatal Adrenoleukodystrophy. (21966617)
2011
13
Fast diffusion of very long chain saturated fatty acids across a bilayer membrane and their rapid extraction by cyclodextrins: implications for adrenoleukodystrophy. (19801636)
2009
14
Rapid exacerbation in an elderly case of adult-onset X-linked adrenoleukodystrophy with cerebral corticospinal tract involvement. (18332258)
2008
15
Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy. (18212787)
2008
16
Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency. (17828604)
2007
17
Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy. (17602313)
2007
18
Phenotypes of female adrenoleukodystrophy. (17372139)
2007
19
Diagnosis of X-linked adrenoleukodystrophy in blood leukocytes. (17524384)
2007
20
Virchow-Robin spaces on magnetic resonance images of children with adrenoleukodystrophy. (17254818)
2007
21
Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophy. (17531776)
2007
22
X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism. (16213491)
2005
23
Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5]. (12579499)
2003
24
Adult-onset dementia with prominent frontal lobe dysfunction in X-linked adrenoleukodystrophy with R152C mutation in ABCD1 gene. (14586615)
2003
25
Thyroid hormone induction of the adrenoleukodystrophy-related gene (ABCD2). (12761339)
2003
26
Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice. (12668127)
2003
27
Biochemical effect of intravenous arginine butyrate in X-linked adrenoleukodystrophy. (12838202)
2003
28
Images in neuroscience: 2. Adrenoleukodystrophy. (11922705)
2002
29
Voiding dysfunction in a patient with adolescent adrenoleukodystrophy. (11260344)
2001
30
Adrenoleukodystrophy mimicking multiple sclerosis]. (11688182)
2001
31
Novel acyl-CoA synthetase in adrenoleukodystrophy target tissues. (11112418)
2000
32
Adrenoleukodystrophy associated with psychosis. (11184478)
2000
33
Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. (10546790)
1999
34
Late-onset adrenoleukodystrophy associated with long-standing psychiatric symptoms. (10453801)
1999
35
The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder. (10088993)
1999
36
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes. (10227685)
1999
37
X-linked adrenoleukodystrophy: the Australasian experience. (9556302)
1998
38
Splicing error due to a splice acceptor site mutation in the ALD gene identified in a Japanese childhood cerebral adrenoleukodystrophy case. (9846054)
1998
39
Adrenoleukodystrophy: unusual clinical and radiographic manifestation. (9715229)
1998
40
Intrathecal IgA synthesis in X-linked cerebral adrenoleukodystrophy. (9378899)
1997
41
Atypical presentation of X-linked childhood adrenoleukodystrophy with an unusual magnetic resonance imaging pattern. (9120233)
1996
42
Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts. (7878038)
1995
43
A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study. (7876858)
1995
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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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:

6 (show all 28)
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.1366dupC (p.Arg456Profs)duplicationLikely pathogenicrs193922093GRCh37Chr X, 153001940: 153001941
26ABCD1NM_000033.3(ABCD1): c.1592T> C (p.Leu531Pro)single nucleotide variantLikely pathogenicrs193922094GRCh37Chr X, 153005649: 153005649
27ABCD1NM_000033.3(ABCD1): c.421G> A (p.Ala141Thr)single nucleotide variantPathogenicrs193922097GRCh37Chr X, 152991142: 152991142
28ABCD1NM_000033.3(ABCD1): c.838C> T (p.Arg280Cys)single nucleotide variantLikely pathogenicrs193922098GRCh37Chr X, 152991559: 152991559

Expression for genes affiliated with Adrenoleukodystrophy

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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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Compounds for genes affiliated with Adrenoleukodystrophy

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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Adrenoleukodystrophy according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1salicylhydroxamic acid4410.0CAT, ACOX1
2clofibric acid4410.0CAT, ACOX1
3ciprofibrate44 2810.9CAT, ACOX1
4ubiquinone449.9CAT, ACOX1
5Hydrogen peroxide249.9CAT, ACOX1
6tripeptide449.8PEX5, ACOX1
7quinone44 2410.8CAT, ACOX1
8manganese superoxide449.8CAT, ABCD1
9carboxylate449.7SCP2, ACOX1
10xanthine44 2410.6CAT, ACOX1
11phytanic acid449.6SCP2, CAT
12menadione44 24 1111.4CAT, ACOX1
13fatty acid448.7ABCD1, ABCD4, ABCD3, SCP2, ACOX1
14acyl-coa448.2ACOX1, ABCD1, ABCD3, PEX5, PEX6, SCP2
15atp44 289.0ABCD1, ABCB6, ABCD3, PEX5, PEX6, ACOX1
16lipid447.1ABCD1, ABCB6, ABCD3, PEX5, PEX1, SCP2

GO Terms for genes affiliated with Adrenoleukodystrophy

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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

Sources for Adrenoleukodystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet