ALD
MCID: ADR007
MIFTS: 86

Adrenoleukodystrophy (ALD) malady

Neuronal diseases, Reproductive diseases, Metabolic diseases, Endocrine diseases categories

Summaries for Adrenoleukodystrophy

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 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: Adrenoleukodystrophy, also known as x-linked adrenoleukodystrophy, is related to zellweger syndrome and neonatal adrenoleukodystrophy. An important gene associated with Adrenoleukodystrophy is ABCD1 (ATP-binding cassette, sub-family D (ALD), member 1), and among its related pathways are alpha-linolenic (omega3) and linoleic (omega6) acid metabolism and Fatty Acid Beta Oxidation. The compounds lignoceric acid and phytanic 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:63 Adrenoleukodystrophy[pronunciation?] (also known as X-linked adrenoleukodystrophy, ALD, X-ALD,... more...

Description from OMIM:46 202370,300100,302700,272100

GeneReviews summary for x-ald

Aliases & Classifications for Adrenoleukodystrophy

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

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


Aliases & Descriptions:

adrenoleukodystrophy 8 9 63 42 22 43 46 10 44 30 60
x-linked adrenoleukodystrophy 8 19 42 21 48
schilder disease 8 21 48 46
x-ald 19 42 21 48
ald 8 42 48
siemerling-creutzfeldt disease 8 21
adrenoleukodystrophy x-linked 42 20
schilder's disease 43 48
diffuse sclerosis 8 43
addison disease and cerebral sclerosis 21
diffuse cerebral sclerosis of schilder 60
x-linked cerebral adrenoleukodystrophy 48
encephalitis periaxialis concentrica 8
encephalitis periaxialis, schilder's 8
myelinoclastic diffuse sclerosis 48
sudanophilic cerebral sclerosis 8
melanodermic leukodystrophy 21
schilder-addison complex 21
bronze schilder disease 8
adrenomyeloneuropathy 48
x-linked ald 48


External Ids:

Disease Ontology8 DOID:10588
NCIt39 C84670
ICD9CM27 341.1
MESH via Orphanet35 D000326
ICD10 via Orphanet26 E71.3, G37.0
SNOMED-CT via Orphanet57 65389002, 49692006
UMLS via Orphanet61 C0162309, C1527231
ICD1025 G37.0

Related Diseases for Adrenoleukodystrophy

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Sources:
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 89)
idRelated DiseaseScoreTop Affiliating Genes
1zellweger syndrome30.7CAT, SCP2, EHHADH, ABCD3, ACOX1, PEX12
2neonatal adrenoleukodystrophy30.5PEX1, PEX13, PEX5, PEX10, PEX26
3refsum disease30.0CAT
4rhizomelic chondrodysplasia punctata30.0SCP2, ACOX1, PEX12, PEX13, PEX5
5zellweger spectrum30.0PEX12, PEX1, PEX13, PEX5, PEX10, PEX6
6infantile refsum disease30.0CAT, PEX1, PEX6
7d-bifunctional protein deficiency30.0ACOX1, EHHADH, SCP2
8cerebritis10.7
9x-linked disease10.5
10addison's disease10.4
11pseudoneonatal adrenoleukodystrophy10.4
12alpers syndrome10.4
13balo's concentric sclerosis10.4
14childhood-onset cerebral x-linked adrenoleukodystrophy10.3
15peroxisomal disease10.3
16leukodystrophy10.3
17peroxisomal acyl-coa oxidase deficiency10.2
18multiple sclerosis10.2
19spinocerebellar degeneration10.2
20metachromatic leukodystrophy10.2
21adrenomyeloneuropathy, adult10.1
22olivopontocerebellar atrophy10.1
23peroxisome biogenesis disorder 1a10.1
24peripheral vascular disease10.1
25neuromyelitis optica10.1
26meningitis10.1
27dementia10.0
28neurologic diseases10.0
29adrenomyeloneuropathy10.0
30peroxisome biogenesis disorder 2b10.0
31peroxisome disorders10.0PEX5, PEX1, ABCD1, CAT
32mulibrey nanism10.0PEX5
33rhizomelic chondrodysplasia punctata type 110.0SCP2, ACOX1
34hepatoblastoma10.0CAT
35autonomic neuropathy10.0
36cervicitis10.0
37hypothyroidism10.0
38stroke, ischemic9.9
39critical limb ischemia9.9
40wiskott-aldrich syndrome9.9
41intermittent claudication9.9
42diastolic heart failure9.9
43malignant glioma9.9
44albinism deafness syndrome9.9
45congenital generalized lipodystrophy9.9
46lipodystrophy9.9
47neurofibromatosis9.9
48fucosidosis9.9
49progressive muscular atrophy9.9
50sly syndrome9.9

Graphical network of the top 20 diseases related to Adrenoleukodystrophy:



Diseases related to adrenoleukodystrophy

Clinical Features for Adrenoleukodystrophy

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Sources:
46OMIM
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Clinical features from OMIM:

202370,300100,302700,272100

Clinical synopsis from OMIM:

272100

Drugs & Therapeutics for Adrenoleukodystrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Adrenoleukodystrophy

Drug clinical trials:

Search ClinicalTrials for Adrenoleukodystrophy

Search NIH Clinical Center for Adrenoleukodystrophy

Search CenterWatch 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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32MalaCards
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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, Thyroid, Cerebellum, Monocytes, T cells

Animal Models for Adrenoleukodystrophy or affiliated genes

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Publications for Adrenoleukodystrophy

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50PubMed
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Articles related to Adrenoleukodystrophy:

(show top 50)    (show all 606)
idTitleAuthorsYear
1
Interval spectral-domain optical coherence tomography and electrophysiology findings in neonatal adrenoleukodystrophy. (23599131)
2013
2
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. (22889154)
2012
3
Bezafibrate for X-linked adrenoleukodystrophy. (22911730)
2012
4
A mixture of oleic, erucic and conjugated linoleic acids modulates cerebrospinal fluid inflammatory markers and improve somatosensorial evoked potential in X-linked adrenoleukodystrophy female carriers. (22189598)
2012
5
Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy. (22095690)
2012
6
ABC subfamily D proteins and very long chain fatty acid metabolism as novel targets in adrenoleukodystrophy. (21039332)
2011
7
Picture of the month: adrenoleukodystrophy and adrenomyeloneuropathy. (20048250)
2010
8
Teaching NeuroImages: adrenoleukodystrophy presenting as raised intracranial pressure. (20498430)
2010
9
Schilder's disease a heterogenous group of disorders known as X-linked adrenoleukodystrophy. Foreword. (20626742)
2010
10
Intra familial phenotypical variations in adrenoleukodystrophy. (20228476)
2010
11
Biochemical aspects of X-linked adrenoleukodystrophy. (20626744)
2010
12
Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. (21488262)
2010
13
Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy. (18212787)
2008
14
Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy? (18571777)
2008
15
Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy. (18206987)
2008
16
A note on X linked adrenoleukodystrophy (Addison-Schilder syndrome). (18202205)
2008
17
Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. (17502464)
2007
18
Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene. (17662307)
2007
19
X-linked adrenoleukodystrophy presenting as Addison disease. (15923703)
2005
20
X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. (15811009)
2005
21
Prenatal molecular diagnosis of adrenoleukodystrophy. (16331554)
2005
22
Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. (15800013)
2005
23
T-cell receptor Vbeta gene usage in CSF lymphocytes in X-linked adrenoleukodystrophy. (15558591)
2005
24
Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up. (15888613)
2005
25
Mutational analysis of three Chinese pedigrees with adrenoleukodystrophy]. (15192815)
2004
26
Adult-onset dementia with prominent frontal lobe dysfunction in X-linked adrenoleukodystrophy with R152C mutation in ABCD1 gene. (14586615)
2003
27
Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif. (14533738)
2003
28
Unrelated allogeneic bone marrow transplant in adrenoleukodystrophy using CD34+ stem cell selection. (12322784)
2002
29
Th 1 cytokine production by peripheral blood mononuclear cells in X-linked adrenoleukodystrophy. (11137522)
2001
30
X-linked adrenoleukodystrophy. The Saudi experience. (11533753)
2000
31
A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective. (11102997)
2000
32
Coma as an acute presentation of adrenoleukodystrophy. (10734258)
2000
33
A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration. (10319888)
1999
34
Case studies: psychological test findings for two children with X-linked adrenoleukodystrophy. (10071943)
1999
35
Clinical and genetic aspects of X-linked adrenoleukodystrophy. (9553942)
1998
36
Rapid decline of fertility in a case of adrenoleukodystrophy. (9806270)
1998
37
A mouse model for X-linked adrenoleukodystrophy. (9256488)
1997
38
Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. (9278636)
1997
39
An S. cerevisiae peroxisomal transporter, orthologous to the human adrenoleukodystrophy protein, appears to be a heterodimer of two half ABC transporters: Pxa1p and Pxa2p. (8993619)
1996
40
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. (7825602)
1995
41
X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. (7811247)
1994
42
A variant of adrenomyeloneuropathy in a family with adrenoleukodystrophy and adrenomyeloneuropathy. (7995738)
1994
43
Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations. (8048932)
1994
44
Genomic organization of the adrenoleukodystrophy gene. (7959759)
1994
45
Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis. (8507690)
1993
46
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. (8441467)
1993
47
Magnetic resonance imaging in adrenoleukodystrophy presenting as spinocerebellar degeneration. (2391533)
1990
48
Adrenal and testicular function in 14 patients with adrenoleukodystrophy or adrenomyeloneuropathy. (3019858)
1986
49
Metabolism of [17,18-3H2]hexacosanoic acid and [15,16-3H2]lignoceric acid in cultured skin fibroblasts from patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN). (4087029)
1985
50
Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females. (7091298)
1982

Genetic Variations for Adrenoleukodystrophy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Adrenoleukodystrophy:

62 (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

Expression for genes affiliated with Adrenoleukodystrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome, 37NCBI BioSystems Database, 29KEGG
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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 18)
idCompoundScoreTop Affiliating Genes
1lignoceric acid4410.7ABCD1, SLC27A2
2phytanic acid4410.7CAT, SCP2, SLC27A2
3salicylhydroxamic acid4410.7CAT, ACOX1
4fatty acid4410.7SCP2, EHHADH, ABCD1, ABCD3, ABCD4, SLC27A2
5acyl-coa4410.7PEX6, SCP2, EHHADH, ABCD1, ABCD3, SLC27A2
6clofibric acid4410.7CAT, ACOX1
73-oxoacyl-coa4410.7EHHADH, SCP2
8lipid4410.6CAT, SCP2, ABCD1, ABCB6, ABCD3, ACOX1
9atp44 2811.6ABCD1, ABCB6, ABCD3, ABCD2, SLC27A2, ACOX1
10sterol4410.6ACOX1, ABCD2, EHHADH, SCP2
11pristanic acid44 28 2412.6EHHADH, SCP2
12(2E)-Tetradecenoyl-CoA2410.6EHHADH, SLC27A2, ACOX1
13(2E)-Octenoyl-CoA2410.5EHHADH, SLC27A2, ACOX1
14(2E)-Dodecenoyl-CoA2410.5EHHADH, SLC27A2, ACOX1
15ciprofibrate44 2811.5ACOX1, CAT
16(2E)-Decenoyl-CoA2410.4EHHADH, SLC27A2, ACOX1
17(2E)-Hexadecenoyl-CoA2410.3EHHADH, SLC27A2, ACOX1
18cholesterol44 28 11 2413.1ABCD2, ABCD1, EHHADH, SCP2, IDI1

GO Terms for genes affiliated with Adrenoleukodystrophy

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

idNameGO IDScoreTop Affiliating Genes
1integral to peroxisomal membraneGO:00577910.5ABCD1, PEX26, PEX16, PEX10, PEX13, PEX12
2peroxisomal matrixGO:00578210.5CAT, SCP2, ABCD3, ACOX1, PEX5
3peroxisomal membraneGO:00577810.4PEX5, PEX13, PEX1, PEX12, ACOX1, SLC27A2
4cytosolGO:00582910.3IDI1, EHHADH, ABCD1, ABCD3, ABCD2, PEX1
5mitochondrionGO:00573910.3IDI1, SCP2, EHHADH, ABCD1, ABCB6, ABCD2
6peroxisomeGO:00577710.3PEX12, PEX1, PEX13, PEX5, PEX10, PEX6
7intracellular membrane-bounded organelleGO:04323110.3SCP2, EHHADH, ABCD3, ABCD2, PEX1
8ATP-binding cassette (ABC) transporter complexGO:04319010.1ABCB6, ABCD4

Biological processes related to Adrenoleukodystrophy according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1alpha-linolenic acid metabolic processGO:03610910.7SCP2, ABCD1, ACOX1
2protein import into peroxisome membraneGO:04504610.7PEX26, PEX16, PEX5
3protein import into peroxisome matrixGO:01655810.7PEX12, PEX1, PEX5, PEX10, PEX16, PEX26
4unsaturated fatty acid metabolic processGO:03355910.7SCP2, ABCD1, ACOX1
5protein targeting to peroxisomeGO:00662510.7PEX12, PEX1, PEX5, PEX6, PEX16
6very long-chain fatty acid catabolic processGO:04276010.7ABCD1, ABCD3, ABCD2, SLC27A2
7fatty acid beta-oxidation using acyl-CoA oxidaseGO:03354010.7SCP2, ABCD1, ACOX1
8peroxisome organizationGO:00703110.7PEX16, SCP2, ABCD1, ABCD3, PEX12, PEX1
9microtubule-based peroxisome localizationGO:06015210.7PEX13, PEX1
10very long-chain fatty acid metabolic processGO:00003810.7ABCD2, ACOX1, PEX5
11fatty acid beta-oxidationGO:00663510.7EHHADH, ABCD1, ABCD3, ABCD2, SLC27A2, PEX5
12protein import into peroxisome matrix, translocationGO:01656110.7PEX5, PEX6
13protein import into peroxisome matrix, dockingGO:01656010.6PEX13, PEX5
14cellular lipid metabolic processGO:04425510.6ACOX1, SLC27A2, ABCD1, SCP2
15fatty acid alpha-oxidationGO:00156110.6PEX13, SLC27A2
16cerebral cortex cell migrationGO:02179510.6PEX13, PEX5
17ATP catabolic processGO:00620010.5PEX6, ABCD3, ABCD1
18bile acid biosynthetic processGO:00669910.4SLC27A2, SCP2
19transmembrane transportGO:05508510.4ABCD1, ABCB6, ABCD3, ABCD2, ABCD4
20small molecule metabolic processGO:04428110.3AMN, CAT, IDI1, SCP2, ABCD1, SLC27A2
21cobalamin metabolic processGO:00923510.2ABCD4, AMN

Molecular functions related to Adrenoleukodystrophy according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupled to transmembrane movement of substancesGO:04262610.6ABCD4, ABCD2, ABCD3, ABCD1
2protein C-terminus bindingGO:00802210.6PEX26, PEX12, PEX1, PEX5, PEX10, PEX6
3enzyme bindingGO:01989910.5CAT, EHHADH, ABCD1, SLC27A2, PEX5
4receptor bindingGO:00510210.5CAT, SCP2, EHHADH, SLC27A2, ACOX1
5ATPase activity, coupledGO:04262310.5PEX6, PEX1
6protein complex bindingGO:03240310.4PEX26, PEX6, PEX1
7ATP bindingGO:00552410.4ABCD1, ABCB6, ABCD3, ABCD2, ABCD4, SLC27A2
8ATPase activityGO:01688710.3ABCD1, ABCD3, PEX6
9protein bindingGO:00551510.0SCP2, ABCD1, ABCD3, ABCD2, PEX12, PEX1

Products for genes affiliated with Adrenoleukodystrophy

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet