MCID: ADR007
MIFTS: 72

Adrenoleukodystrophy

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Skin diseases, Reproductive diseases, Metabolic diseases

Aliases & Classifications for Adrenoleukodystrophy

MalaCards integrated aliases for Adrenoleukodystrophy:

Name: Adrenoleukodystrophy 53 37 12 72 49 50 71 36 28 13 51 41 14 69
X-Linked Adrenoleukodystrophy 12 72 23 49 24 55
Ald 53 12 49 55 71
Siemerling-Creutzfeldt Disease 53 12 24 71
X-Ald 23 49 24 55
Addison Disease and Cerebral Sclerosis 53 24 71
Melanodermic Leukodystrophy 53 24 71
Bronze Schilder Disease 53 12 71
Adrenomyeloneuropathy 55 71 69
Diffuse Cerebral Sclerosis of Schilder 12 69
Schilder's Disease 12 50
Diffuse Sclerosis 12 50
Schilder Disease 12 24
X-Linked Cerebral Adrenoleukodystrophy 55
Encephalitis Periaxialis Concentrica 12
Encephalitis Periaxialis, Schilder's 12
Sudanophilic Cerebral Sclerosis 12
Adrenoleukodystrophy, X-Linked 72
Adrenomyeloneuropathy, Adult 53
Balo's Concentric Sclerosis 69
Schilder-Addison Complex 24
Systemic Scleroderma 69
X-Linked Ald 55
Amn 71

Characteristics:

Orphanet epidemiological data:

55
x-linked adrenoleukodystrophy
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: All ages;
x-linked cerebral adrenoleukodystrophy
Inheritance: X-linked recessive; Age of onset: All ages;
adrenomyeloneuropathy
Inheritance: X-linked recessive; Age of onset: Adult;

OMIM:

53
Miscellaneous:
progressive disorder
highly variable phenotype, ranging from asymptomatic to death by age 3 years
onset ranges from childhood (severe phenotype) to adulthood (limited phenotype)
heterozygous female carriers may manifest symptoms
estimated incidence of 1 in 17,000

Inheritance:
x-linked recessive


HPO:

31
adrenoleukodystrophy:
Onset and clinical course progressive
Inheritance x-linked recessive inheritance


GeneReviews:

23
Penetrance The biochemical phenotype of elevated plasma concentration of vlcfa has nearly 100% penetrance in males...

Classifications:



Summaries for Adrenoleukodystrophy

NINDS : 50 X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies 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.  People with X-ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of X-ALD. While nearly all patients with X-ALD suffer from adrenal insufficiency, also known as Addison's disease, the neurological symptoms can begin either in childhood or in adulthood. The childhood cerebral form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia. The milder adult-onset form is also known as adrenomyeloneuropathy (AMN), which typically begins between ages 21 and 35.  Symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. Almost half the women who are carriers of X-ALS will develop a milder form of AMN but almost never will develop symptoms seen in boys the X-ALD.  X-ALD should not be confused with neonatal adrenoleukodsystrophy, which is a disease of newborns and young infants and belongs to the group of peroxisomal biogenesis disorders.

MalaCards based summary : Adrenoleukodystrophy, also known as x-linked adrenoleukodystrophy, is related to peroxisomal acyl-coa oxidase deficiency and peroxisome biogenesis disorder 1a, and has symptoms including headache, clumsiness and hemiparesis. An important gene associated with Adrenoleukodystrophy is ABCD1 (ATP Binding Cassette Subfamily D Member 1), and among its related pathways/superpathways are ABC transporters and Peroxisome. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and adrenal gland, and related phenotype is homeostasis/metabolism.

Disease Ontology : 12 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 : 24 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.

NIH Rare Diseases : 49 X-linked adrenoleukodystrophy (X-ALD) is a genetic disease that affects the nervous system and the adrenal glands (small glands located on top of each kidney). People with this disease often have progressive loss of the fatty covering (myelin) that surrounds the nerves in the brain and spinal cord. They may also have a shortage of certain hormones that is caused by damage to the outer layer of the adrenal glands (adrenal cortex). This is called adrenocortical insufficiency, or Addison disease. There are three forms of X-ALD: a childhood cerebral form, an adrenomyeloneuropathy (AMN) type, and an adrenal-insufficiency-only-type. The disease primarily affects males. X-ALD is caused by a variation (mutation) in the ABCD1 gene and it is inherited in an X-linked. manner. Diagnosis of the disease is based on testing the levels of a molecule called very long-chain fatty acids (VLCFA). The diagnosis can be confirmed with genetic testing. There is still no cure for X-ALD, but taking special oils such as Lorenzo’s oil can lower the blood levels of VLCFA. Bone marrow transplantation may be an option for boys who have evidence of brain involvement on MRI, but do not yet have obvious symptoms of the disease with a normal neurological exam. Adrenocortical insufficiency is treated with corticosteroids.  Last updated: 2/12/2018

OMIM : 53 Adrenoleukodystrophy is an X-linked disorder which is secondary to a mutation in the ABCD1 gene and results in the apparent defect in peroxisomal beta oxidation and the accumulation of the saturated very long chain fatty acids (VLCFA) in all tissues of the body. The manifestations of the disorder occur primarily in the adrenal cortex, the myelin of the central nervous system, and the Leydig cells of the testes. ABCD1 is an ATPase binding cassette protein in the same category of transporter proteins such as the CFTR and MDR proteins. Identification of X-ALD as a lipid-storage disease, as a defect in the capacity to degrade VLCFAs, and its characterization as a peroxisomal disorder was reviewed by Moser (1997). Moser et al. (2005) provided a clinical review of ALD. (300100)

UniProtKB/Swiss-Prot : 71 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: NBK1315

Related Diseases for Adrenoleukodystrophy

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

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 peroxisomal acyl-coa oxidase deficiency 33.0 ACOX1 PEX5
2 peroxisome biogenesis disorder 1a 32.3 PEX1 PEX10
3 zellweger spectrum disorder 31.8 PEX1 PEX6
4 neonatal adrenoleukodystrophy 31.3 ACOX1 EHHADH PEX1 PEX10 PEX19 PEX26
5 d-bifunctional protein deficiency 31.1 ACOX1 EHHADH PEX5
6 peroxisome biogenesis disorder 1b 31.0 ABCD3 PEX1 PEX10 PEX19 PEX26 PEX5
7 peroxisomal disease 30.2 ABCD1 PEX1 PEX5
8 rhizomelic chondrodysplasia punctata 29.5 PEX26 PEX5
9 zellweger syndrome 29.3 ABCD3 EHHADH PEX1 PEX10 PEX19 PEX26
10 peroxisomal biogenesis disorders 28.2 ABCD1 BCAP31 PEX1 PEX10 PEX5 PEX6
11 childhood-onset cerebral x-linked adrenoleukodystrophy 12.3
12 megaloblastic anemia 1 12.0
13 adrenomyeloneuropathy 11.7
14 mitochondrial dna depletion syndrome 4a 11.5
15 tumefactive multiple sclerosis 11.5
16 pelizaeus-merzbacher disease 11.3
17 balo concentric sclerosis 11.3
18 leukodystrophy 11.2
19 spasticity 11.1
20 albinism-deafness syndrome 11.1
21 peroxisome biogenesis disorder 2b 10.9
22 peroxisome biogenesis disorder 3b 10.9
23 peroxisome biogenesis disorder 4b 10.9
24 peroxisome biogenesis disorder 5b 10.9
25 peroxisome biogenesis disorder 6b 10.9
26 peroxisome biogenesis disorder 7b 10.9
27 peroxisome biogenesis disorder 11b 10.9
28 peroxisome biogenesis disorder 2a 10.7
29 sudanophilic cerebral sclerosis 10.7
30 peroxisome biogenesis disorder 3a 10.7
31 peroxisome biogenesis disorder 4a 10.7
32 peroxisome biogenesis disorder 5a 10.7
33 peroxisome biogenesis disorder 6a 10.7
34 peroxisome biogenesis disorder 7a 10.7
35 peroxisome biogenesis disorder 8a 10.7
36 peroxisome biogenesis disorder 8b 10.7
37 peroxisome biogenesis disorder 9b 10.7
38 peroxisome biogenesis disorder 10a 10.7
39 peroxisome biogenesis disorder 11a 10.7
40 peroxisome biogenesis disorder 12a 10.7
41 peroxisome biogenesis disorder 13a 10.7
42 peroxisomal beta-oxidation disorder 10.7
43 peroxisome biogenesis disorder-zellweger syndrome spectrum 10.7
44 wells-jankovic syndrome 10.7
45 myelinoclastic diffuse sclerosis 10.7
46 cerebritis 10.6
47 deafness enamel hypoplasia nail defects 10.2 PEX1 PEX6
48 chromosome xq28 deletion syndrome 10.2 ABCD1 BCAP31
49 deafness, dystonia, and cerebral hypomyelination 10.2 ABCD1 BCAP31
50 mulibrey nanism 10.1 PEX1 PEX5

Graphical network of the top 20 diseases related to Adrenoleukodystrophy:



Diseases related to Adrenoleukodystrophy

Symptoms & Phenotypes for Adrenoleukodystrophy

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
ataxia
seizures
paraparesis
spasticity
dementia
more
GenitourinaryExternalGenitaliaMale:
impotence

HeadAndNeckEars:
hearing loss

NeurologicPeripheralNervousSystem:
sensory loss
distal axonopathy (adrenomyeloneuropathy)

EndocrineFeatures:
adrenal insufficiency (addison disease)

NeurologicBehavioralPsychiatricManifestations:
psychosis
autistic features
behavioral changes
attention deficit-hyperactivity disorder

GenitourinaryBladder:
urinary incontinence

AbdomenGastrointestinal:
fecal incontinence

HeadAndNeckEyes:
loss of vision

LaboratoryAbnormalities:
systemic accumulation of very long chain fatty acids (vlcfa)


Clinical features from OMIM:

300100

Human phenotypes related to Adrenoleukodystrophy:

55 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 headache 55 31 hallmark (90%) Very frequent (99-80%) HP:0002315
2 clumsiness 55 31 hallmark (90%) Very frequent (99-80%) HP:0002312
3 hemiparesis 55 31 frequent (33%) Frequent (79-30%) HP:0001269
4 paraparesis 55 31 Very frequent (99-80%) HP:0002385
5 diplopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000651
6 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
7 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0001288
8 increased intracranial pressure 55 31 frequent (33%) Frequent (79-30%) HP:0002516
9 visual impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000505
10 abnormality of metabolism/homeostasis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001939
11 attention deficit hyperactivity disorder 55 31 hallmark (90%) Very frequent (99-80%) HP:0007018
12 specific learning disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001328
13 urinary bladder sphincter dysfunction 55 31 frequent (33%) Frequent (79-30%) HP:0002839
14 visual field defect 55 31 frequent (33%) Frequent (79-30%) HP:0001123
15 aphasia 55 31 frequent (33%) Frequent (79-30%) HP:0002381
16 visual loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0000572
17 paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0003470
18 dementia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000726
19 aggressive behavior 55 31 frequent (33%) Frequent (79-30%) HP:0000718
20 impotence 55 31 occasional (7.5%) Occasional (29-5%) HP:0000802
21 increased circulating acth level 55 31 frequent (33%) Frequent (79-30%) HP:0003154
22 disinhibition 55 31 frequent (33%) Frequent (79-30%) HP:0000734
23 progressive hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0001730
24 incoordination 55 31 Very frequent (99-80%) HP:0002311
25 sensory impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0003474
26 progressive spastic paraparesis 55 31 hallmark (90%) Very frequent (99-80%) HP:0007199
27 leg muscle stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0008969
28 neurogenic bladder 55 31 frequent (33%) Frequent (79-30%) HP:0000011
29 adrenal insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0000846
30 inappropriate sexual behavior 55 31 frequent (33%) Frequent (79-30%) HP:0008768
31 seizures 31 HP:0001250
32 bowel incontinence 31 HP:0002607
33 hearing impairment 31 HP:0000365
34 behavioral abnormality 55 Very frequent (99-80%)
35 blindness 31 HP:0000618
36 cognitive impairment 55 Very frequent (99-80%)
37 abnormality of vision 55 Very frequent (99-80%)
38 slurred speech 31 HP:0001350
39 limb ataxia 31 HP:0002070
40 abnormality of the skeletal system 31 HP:0000924
41 primary adrenal insufficiency 31 HP:0008207
42 hypogonadism 31 HP:0000135
43 psychosis 31 HP:0000709
44 neurodegeneration 31 HP:0002180
45 spastic paraplegia 31 HP:0001258
46 hyperactivity 55 Very frequent (99-80%)
47 polyneuropathy 31 HP:0001271
48 bulbar palsy 31 HP:0001283
49 functional motor problems 55 Very frequent (99-80%)
50 abnormality of adrenal physiology 55 Frequent (79-30%)

UMLS symptoms related to Adrenoleukodystrophy:


unspecified visual loss, absence of sensation, paraparesis, seizures, muscle spasticity, ataxia, hidebound skin, pruritus, exanthema

MGI Mouse Phenotypes related to Adrenoleukodystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.32 ABCB6 ABCD1 ABCD2 ABCD3 ACOX1 EHHADH

Drugs & Therapeutics for Adrenoleukodystrophy

Drugs for Adrenoleukodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
6
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
8
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
9 Micronutrients Phase 2, Phase 3,Phase 1
10 Trace Elements Phase 2, Phase 3,Phase 1
11 Vitamin B Complex Phase 2, Phase 3
12 Vitamins Phase 2, Phase 3,Phase 1
13 Bile Acids and Salts Phase 3
14 Cholic Acids Phase 3
15 Gastrointestinal Agents Phase 3
16 Liver Extracts Phase 3
17 Alkylating Agents Phase 2, Phase 3
18 Antilymphocyte Serum Phase 2, Phase 3
19 Antirheumatic Agents Phase 2, Phase 3
20 Immunosuppressive Agents Phase 2, Phase 3
21 Methylprednisolone acetate Phase 2, Phase 3
22 Methylprednisolone Hemisuccinate Phase 2, Phase 3
23 Prednisolone acetate Phase 2, Phase 3
24 Prednisolone hemisuccinate Phase 2, Phase 3
25 Prednisolone phosphate Phase 2, Phase 3
26 Antimetabolites Phase 3,Phase 2
27 Hypolipidemic Agents Phase 3
28 Lipid Regulating Agents Phase 3
29 Pharmaceutical Solutions Phase 2, Phase 3
30 Folate Nutraceutical Phase 2, Phase 3
31 Vitamin B7 Nutraceutical Phase 2, Phase 3
32 Vitamin B9 Nutraceutical Phase 2, Phase 3
33
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
34
alemtuzumab Approved, Investigational Phase 2 216503-57-0
35
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
36
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
37
Hydroxyurea Approved Phase 2 127-07-1 3657
38
Melphalan Approved Phase 2 148-82-3 460612 4053
39
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
40
Mesna Approved, Investigational Phase 2 3375-50-6 598
41
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
42
Mycophenolic acid Approved Phase 2 24280-93-1 446541
43
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
44
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
45
rituximab Approved Phase 2 174722-31-7 10201696
46 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
47 Tocopherol Approved, Investigational, Nutraceutical Phase 2
48
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
49 tannic acid Approved, Nutraceutical Phase 2
50
Cholecalciferol Approved, Nutraceutical Phase 1, Phase 2 67-97-0 10883523 5280795 6221

Interventional clinical trials:

(show all 38)

# Name Status NCT ID Phase Drugs
1 MD1003-AMN MD1003 in Adrenomyeloneuropathy Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
2 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
3 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
5 A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT01896102 Phase 2, Phase 3
6 A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. Not yet recruiting NCT03231878 Phase 2, Phase 3 MIN-102;Placebos
7 Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
8 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
9 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
10 A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants Completed NCT01495260 Phase 2 N-acetylcysteine;lipoic acid;vitamin E
11 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
12 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
13 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1, Phase 2
14 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
15 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
16 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
17 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
18 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
19 Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Not yet recruiting NCT03196765 Phase 1, Phase 2 Sobetirome (NV1205)
20 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases Not yet recruiting NCT03367546 Phase 2
21 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
22 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
23 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
24 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
25 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044
26 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
27 The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Bezafibrate
28 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853
29 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
30 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
31 Newborn Screening for Adrenoleukodystrophy Recruiting NCT02952482
32 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Recruiting NCT03278899
33 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
34 Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants Available NCT01881334
35 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
36 Early Diagnosis Of Childhood Cerebral ALD Not yet recruiting NCT02948062
37 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil
38 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Adrenoleukodystrophy

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Adrenoleukodystrophy cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: adrenoleukodystrophy

Genetic Tests for Adrenoleukodystrophy

Genetic tests related to Adrenoleukodystrophy:

# Genetic test Affiliating Genes
1 Adrenoleukodystrophy 28 ABCD1

Anatomical Context for Adrenoleukodystrophy

MalaCards organs/tissues related to Adrenoleukodystrophy:

38
Brain, Cortex, Adrenal Gland, Adrenal Cortex, Skin, Testes, Bone

Publications for Adrenoleukodystrophy

Articles related to Adrenoleukodystrophy:

(show top 50) (show all 739)
# Title Authors Year
1
Childhood cerebral X-linked adrenoleukodystrophy with atypical neuroimaging abnormalities and a novel mutation. ( 29386416 )
2018
2
Gene Therapy for Cerebral Adrenoleukodystrophy. ( 29385368 )
2018
3
Gene Therapy for Cerebral Adrenoleukodystrophy. ( 29394476 )
2018
4
A novel temporal pattern of childhood cerebral X-linked adrenoleukodystrophy. ( 29132975 )
2018
5
Haploidentical bone marrow transplantation with post transplant cyclophosphamide for patients with X-linked adrenoleukodystrophy: a suitable choice in an urgent situation. ( 29330393 )
2018
6
Autonomic dysfunction in a patient with X-linked adrenoleukodystrophy. ( 29284317 )
2017
7
Unusual brain images of a boy with adolescent cerebral X-linked adrenoleukodystrophy presenting with exhibitionism: A CARE-compliant case report. ( 29390592 )
2017
8
Management of X-linked adrenoleukodystrophy in Morocco: actual situation. ( 29116030 )
2017
9
Neurometabolic disease: Gene therapy success for cerebral adrenoleukodystrophy. ( 29064470 )
2017
10
A novel mutation in ABCD1 unveils different clinical phenotypes in a family with adrenoleukodystrophy. ( 28601575 )
2017
11
Adolescent-onset X-linked Adrenoleukodystrophy Presenting as Treatment-resistant Bipolar Disorder. ( 29200571 )
2017
12
Primary adrenal insufficiency due to X-linked adrenoleukodystrophy diagnosed in adulthood. ( 29056270 )
2017
13
Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN). ( 29065337 )
2017
14
Heat shock protein expression in cerebral X-linked adrenoleukodystrophy reveals astrocyte stress prior to myelin loss. ( 28319253 )
2017
15
X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans. ( 28919002 )
2017
16
S149R, a novel mutation in the<i>ABCD1</i>gene causing X-linked adrenoleukodystrophy. ( 29152099 )
2017
17
Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia. ( 28481932 )
2017
18
A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination. ( 28911205 )
2017
19
Quality of life among boys with adrenoleukodystrophy following hematopoietic stem cell transplant. ( 28934891 )
2017
20
Optimizing Treatment for Cerebral Adrenoleukodystrophy in the Era of Gene Therapy. ( 28976819 )
2017
21
A Thyroid Hormone-Based Strategy for Correcting the Biochemical Abnormality in X-Linked Adrenoleukodystrophy. ( 28200172 )
2017
22
Decision Making in Adrenoleukodystrophy: When Is a Good Outcome Really a Good Outcome? ( 28418445 )
2017
23
Generation of induced pluripotent stem cell (iPSC) line from a 21-year-old X-linked adrenoleukodystrophy (X-ALD) patient. ( 29128817 )
2017
24
Therapeutic strategies in adrenoleukodystrophy. ( 28493141 )
2017
25
Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy. ( 29089175 )
2017
26
Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy. ( 28288261 )
2017
27
Inflammatory profile in X-linked adrenoleukodystrophy patients: Understanding disease progression. ( 28722826 )
2017
28
X-linked adult-onset adrenoleukodystrophy: Psychiatric and neurological manifestations. ( 29201369 )
2017
29
Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy. ( 28666219 )
2017
30
Beam Me In: Thyroid Hormone Analog Targets Alternative Transporter in Mouse Model of X-Linked Adrenoleukodystrophy ( 28609836 )
2017
31
New insights into adrenoleukodystrophy. ( 28552315 )
2017
32
Psychiatric disease in an adolescent as a harbinger of cerebral X-linked adrenoleukodystrophy. ( 29175874 )
2017
33
Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy. ( 28725571 )
2017
34
Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study. ( 28274546 )
2017
35
A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene. ( 28456143 )
2017
36
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. ( 28976817 )
2017
37
Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy. ( 28375456 )
2017
38
Activation of Cerebral X-linked Adrenoleukodystrophy After Head Trauma. ( 28534457 )
2017
39
Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy. ( 28418523 )
2017
40
Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy. ( 28004277 )
2017
41
Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked Adrenoleukodystrophy. ( 27114847 )
2016
42
Synthetic cannabinoids revealing adrenoleukodystrophy. ( 26601810 )
2016
43
A case of adrenoleukodystrophy presenting with manic symptoms in a patient on steroids for Addison's disease. ( 28197008 )
2016
44
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome. ( 27991992 )
2016
45
Generation of human embryonic stem cells from abnormal blastocyst diagnosed with adrenoleukodystrophy. ( 27934597 )
2016
46
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. ( 27337030 )
2016
47
Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report. ( 26862418 )
2016
48
A Hierarchical Bayesian Approach for Combining Pharmacokinetic/Pharmacodynamic Modeling and Phase IIa Trial Design in Orphan Drugs: Treating Adrenoleukodystrophy with Lorenzo's Oil. ( 27547896 )
2016
49
C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man. ( 27124591 )
2016
50
Childhood Cerebral Adrenoleukodystrophy: MR Perfusion Measurements and Their Use in Predicting Clinical Outcome after Hematopoietic Stem Cell Transplantation. ( 27079370 )
2016

Variations for Adrenoleukodystrophy

UniProtKB/Swiss-Prot genetic disease variations for Adrenoleukodystrophy:

71 (show top 50) (show all 138)
# Symbol AA change Variation ID SNP ID
1 ABCD1 p.Ser98Leu VAR_000024
2 ABCD1 p.Arg104Cys VAR_000025
3 ABCD1 p.Arg104His VAR_000026
4 ABCD1 p.Thr105Ile VAR_000027
5 ABCD1 p.Leu107Pro VAR_000028
6 ABCD1 p.Ser108Trp VAR_000029
7 ABCD1 p.Gly116Arg VAR_000030 rs398123110
8 ABCD1 p.Ala141Thr VAR_000033 rs193922097
9 ABCD1 p.Asn148Ser VAR_000034 rs128624216
10 ABCD1 p.Ser149Asn VAR_000035
11 ABCD1 p.Arg152Cys VAR_000036
12 ABCD1 p.Arg152Pro VAR_000037
13 ABCD1 p.Arg163His VAR_000038 rs1057517954Adrenoleukodystrophy
14 ABCD1 p.Tyr174Asp VAR_000039 rs128624217
15 ABCD1 p.Tyr174Ser VAR_000040
16 ABCD1 p.Gln178Glu VAR_000041
17 ABCD1 p.Tyr181Cys VAR_000042
18 ABCD1 p.Arg182Pro VAR_000043
19 ABCD1 p.Asp194His VAR_000044
20 ABCD1 p.Asp200Val VAR_000045
21 ABCD1 p.Leu211Pro VAR_000046
22 ABCD1 p.Leu220Pro VAR_000047
23 ABCD1 p.Asp221Gly VAR_000048
24 ABCD1 p.Thr254Met VAR_000049
25 ABCD1 p.Thr254Pro VAR_000050
26 ABCD1 p.Pro263Leu VAR_000051
27 ABCD1 p.Gly266Arg VAR_000052 rs128624218
28 ABCD1 p.Lys276Glu VAR_000053
29 ABCD1 p.Gly277Arg VAR_000054
30 ABCD1 p.Gly277Trp VAR_000056
31 ABCD1 p.Glu291Asp VAR_000057
32 ABCD1 p.Glu291Lys VAR_000058 rs128624213
33 ABCD1 p.Ala294Thr VAR_000060
34 ABCD1 p.Ser342Pro VAR_000061
35 ABCD1 p.Arg389Gly VAR_000062 rs128624215
36 ABCD1 p.Arg389His VAR_000063 rs886044777
37 ABCD1 p.Arg401Gln VAR_000064 rs128624219
38 ABCD1 p.Arg418Trp VAR_000065 rs128624220
39 ABCD1 p.Pro484Arg VAR_000066 rs128624214
40 ABCD1 p.Gly507Val VAR_000067
41 ABCD1 p.Gly512Ser VAR_000068
42 ABCD1 p.Ser515Phe VAR_000069 rs128624223
43 ABCD1 p.Arg518Gln VAR_000070 rs398123102
44 ABCD1 p.Arg518Trp VAR_000071 rs128624224
45 ABCD1 p.Gly522Trp VAR_000072
46 ABCD1 p.Pro534Leu VAR_000074
47 ABCD1 p.Pro560Leu VAR_000075 rs398123105
48 ABCD1 p.Pro560Arg VAR_000076
49 ABCD1 p.Met566Lys VAR_000077
50 ABCD1 p.Arg591Gln VAR_000078

ClinVar genetic disease variations for Adrenoleukodystrophy:

6 (show top 50) (show all 67)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCD1 NM_000033.3(ABCD1): c.871G> A (p.Glu291Lys) single nucleotide variant Pathogenic rs128624213 GRCh37 Chromosome X, 152991592: 152991592
2 ABCD1 NM_000033.3(ABCD1): c.1451C> G (p.Pro484Arg) single nucleotide variant Pathogenic rs128624214 GRCh37 Chromosome X, 153002668: 153002668
3 ABCD1 ABCD1, IVS6AS, A-G, -2 single nucleotide variant Pathogenic
4 ABCD1 ABCD1, IVS8AS, G-A, -10, 8-BP INS insertion Pathogenic
5 ABCD1 NM_000033.3(ABCD1): c.1165C> G (p.Arg389Gly) single nucleotide variant Pathogenic rs128624215 GRCh37 Chromosome X, 153001649: 153001649
6 ABCD1 NM_000033.3(ABCD1): c.443A> G (p.Asn148Ser) single nucleotide variant Pathogenic rs128624216 GRCh37 Chromosome X, 152991164: 152991164
7 ABCD1 NM_000033.3(ABCD1): c.520T> G (p.Tyr174Asp) single nucleotide variant Pathogenic rs128624217 GRCh37 Chromosome X, 152991241: 152991241
8 ABCD1 NM_000033.3(ABCD1): c.796G> A (p.Gly266Arg) single nucleotide variant Pathogenic rs128624218 GRCh37 Chromosome X, 152991517: 152991517
9 ABCD1 NM_000033.3(ABCD1): c.1202G> A (p.Arg401Gln) single nucleotide variant Pathogenic rs128624219 GRCh37 Chromosome X, 153001686: 153001686
10 ABCD1 NM_000033.3(ABCD1): c.1252C> T (p.Arg418Trp) single nucleotide variant Pathogenic/Likely pathogenic rs128624220 GRCh37 Chromosome X, 153001826: 153001826
11 ABCD1 NM_000033.3(ABCD1): c.1390C> T (p.Arg464Ter) single nucleotide variant Pathogenic rs128624221 GRCh37 Chromosome X, 153001964: 153001964
12 ABCD1 NM_000033.3(ABCD1): c.1415_1416delAG (p.Gln472Argfs) deletion Pathogenic rs387906494 GRCh37 Chromosome X, 153002632: 153002633
13 ABCD1 NM_000033.3(ABCD1): c.1429G> T (p.Glu477Ter) single nucleotide variant Pathogenic rs128624222 GRCh37 Chromosome X, 153002646: 153002646
14 ABCD1 NM_000033.3(ABCD1): c.1544C> T (p.Ser515Phe) single nucleotide variant Pathogenic rs128624223 GRCh37 Chromosome X, 153005601: 153005601
15 ABCD1 NM_000033.3(ABCD1): c.1552delC (p.Arg518Glyfs) deletion Pathogenic rs387906495 GRCh37 Chromosome X, 153005609: 153005609
16 ABCD1 NM_000033.3(ABCD1): c.1552C> T (p.Arg518Trp) single nucleotide variant Pathogenic rs128624224 GRCh37 Chromosome X, 153005609: 153005609
17 ABCD1 ABCD1, IVS6DS, G-A, +1 single nucleotide variant Pathogenic
18 ABCD1 ABCD1, 2-BP DEL, 2177TA deletion Pathogenic
19 ABCD1 NM_000033.3(ABCD1): c.1817C> T (p.Ser606Leu) single nucleotide variant Pathogenic rs128624225 GRCh37 Chromosome X, 153008477: 153008477
20 ABCD1 NM_000033.3(ABCD1): c.1850G> A (p.Arg617His) single nucleotide variant Pathogenic rs11146842 GRCh37 Chromosome X, 153008510: 153008510
21 ABCD1 NM_000033.3(ABCD1): c.1849C> T (p.Arg617Cys) single nucleotide variant Pathogenic rs4010613 GRCh37 Chromosome X, 153008509: 153008509
22 ABCD1 NM_000033.3(ABCD1): c.871_873delGAG (p.Glu292del) deletion Pathogenic rs387906496 GRCh37 Chromosome X, 152991592: 152991594
23 ABCD1 ABCD1, IVS8DS, G-A, +1 single nucleotide variant Pathogenic
24 ABCD1 ABCD1, IVS1DS, G-A, -1 single nucleotide variant Pathogenic
25 ABCD1 NM_000033.3(ABCD1): c.-18_8del26 (p.Met1_Gly66del) deletion Pathogenic rs387906497 GRCh37 Chromosome X, 152990704: 152990729
26 ABCD1 NM_000033.3(ABCD1): c.1366dupC (p.Arg456Profs) duplication Likely pathogenic rs193922093 GRCh37 Chromosome X, 153001940: 153001940
27 ABCD1 NM_000033.3(ABCD1): c.1592T> C (p.Leu531Pro) single nucleotide variant Likely pathogenic rs193922094 GRCh37 Chromosome X, 153005649: 153005649
28 ABCD1 NM_000033.3(ABCD1): c.421G> A (p.Ala141Thr) single nucleotide variant Pathogenic rs193922097 GRCh37 Chromosome X, 152991142: 152991142
29 ABCD1 NM_000033.3(ABCD1): c.838C> T (p.Arg280Cys) single nucleotide variant Likely pathogenic rs193922098 GRCh37 Chromosome X, 152991559: 152991559
30 ABCD1 NM_000033.3(ABCD1): c.1396C> T (p.Gln466Ter) single nucleotide variant Pathogenic rs398123100 GRCh37 Chromosome X, 153002613: 153002613
31 ABCD1 NM_000033.3(ABCD1): c.1553G> A (p.Arg518Gln) single nucleotide variant Pathogenic rs398123102 GRCh37 Chromosome X, 153005610: 153005610
32 ABCD1 NM_000033.3(ABCD1): c.1586G> A (p.Gly529Asp) single nucleotide variant Likely pathogenic rs398123103 GRCh37 Chromosome X, 153005643: 153005643
33 ABCD1 NM_000033.3(ABCD1): c.1660C> A (p.Arg554Ser) single nucleotide variant Likely pathogenic rs398123104 GRCh37 Chromosome X, 153006053: 153006053
34 ABCD1 NM_000033.3(ABCD1): c.1679C> T (p.Pro560Leu) single nucleotide variant Pathogenic rs398123105 GRCh37 Chromosome X, 153006072: 153006072
35 ABCD1 NM_000033.3(ABCD1): c.1771C> T (p.Arg591Trp) single nucleotide variant Pathogenic/Likely pathogenic rs398123106 GRCh37 Chromosome X, 153006164: 153006164
36 ABCD1 NM_000033.3(ABCD1): c.1802G> A (p.Trp601Ter) single nucleotide variant Pathogenic rs398123107 GRCh37 Chromosome X, 153008462: 153008462
37 ABCD1 NM_000033.3(ABCD1): c.1866-10G> A single nucleotide variant Pathogenic rs398123108 GRCh37 Chromosome X, 153008665: 153008665
38 ABCD1 NM_000033.3(ABCD1): c.31_46del16 (p.Arg11Serfs) deletion Pathogenic rs398123109 GRCh37 Chromosome X, 152990752: 152990767
39 ABCD1 NM_000033.3(ABCD1): c.346G> A (p.Gly116Arg) single nucleotide variant Pathogenic rs398123110 GRCh37 Chromosome X, 152991067: 152991067
40 ABCD1 NM_000033.3(ABCD1): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs398123111 GRCh37 Chromosome X, 152991127: 152991127
41 ABCD1 NM_000033.3(ABCD1): c.498_520del23 (p.Val167Leufs) deletion Pathogenic rs398123112 GRCh37 Chromosome X, 152991219: 152991241
42 ABCD1 NM_000033.3(ABCD1): c.614C> A (p.Ala205Glu) single nucleotide variant Likely pathogenic rs398123113 GRCh37 Chromosome X, 152991335: 152991335
43 ABCD1 NM_000033.3(ABCD1): c.253_254insC (p.Arg85Profs) insertion Pathogenic rs713993050 GRCh37 Chromosome X, 152990974: 152990974
44 ABCD1 NM_000033.3(ABCD1): c.1661G> A (p.Arg554His) single nucleotide variant Pathogenic rs201568579 GRCh37 Chromosome X, 153006054: 153006054
45 ABCD1 NM_000033.3(ABCD1): c.1825G> A (p.Glu609Lys) single nucleotide variant Pathogenic/Likely pathogenic rs150346282 GRCh37 Chromosome X, 153008485: 153008485
46 ABCD1 NM_000033.3(ABCD1): c.1201C> G (p.Arg401Gly) single nucleotide variant Likely pathogenic rs727503786 GRCh37 Chromosome X, 153001685: 153001685
47 ABCD1 NM_000033.3(ABCD1): c.887A> G (p.Tyr296Cys) single nucleotide variant Pathogenic rs797044610 GRCh37 Chromosome X, 152991608: 152991608
48 ABCD1 NM_000033.3(ABCD1): c.886T> C (p.Tyr296His) single nucleotide variant Likely pathogenic rs797044611 GRCh37 Chromosome X, 152991607: 152991607
49 ABCD1 NM_000033.3(ABCD1): c.2006_2007delAC (p.His669Leufs) deletion Pathogenic rs797044625 GRCh37 Chromosome X, 153008957: 153008958
50 ABCD1 NM_000033.3(ABCD1): c.1992-2A> G single nucleotide variant Pathogenic rs797044626 GRCh37 Chromosome X, 153008941: 153008941

Expression for Adrenoleukodystrophy

Search GEO for disease gene expression data for Adrenoleukodystrophy.

Pathways for Adrenoleukodystrophy

Pathways related to Adrenoleukodystrophy according to KEGG:

36
# Name Kegg Source Accession
1 ABC transporters hsa02010
2 Peroxisome hsa04146

GO Terms for Adrenoleukodystrophy

Cellular components related to Adrenoleukodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.92 ABCB6 ABCD1 ABCD3 ACOX1 BCAP31 EHHADH
2 peroxisome GO:0005777 9.77 ABCD1 ABCD2 ABCD3 ABCD4 ACOX1 EHHADH
3 peroxisomal matrix GO:0005782 9.54 ABCD3 ACOX1 EHHADH
4 integral component of peroxisomal membrane GO:0005779 9.46 ABCD1 PEX10 PEX26 SLC27A2
5 ATP-binding cassette (ABC) transporter complex GO:0043190 9.4 ABCB6 ABCD4
6 peroxisomal membrane GO:0005778 9.4 ABCD1 ABCD2 ABCD3 ABCD4 ACOX1 PEX1
7 cytosol GO:0005829 10.13 ABCB6 ABCD1 ABCD2 ABCD3 BCAP31 EHHADH
8 membrane GO:0016020 10.1 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4 ACOX1

Biological processes related to Adrenoleukodystrophy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.95 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4 PEX19
2 fatty acid metabolic process GO:0006631 9.7 ACOX1 EHHADH SLC27A2
3 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.58 ABCD1 ACOX1 EHHADH
4 protein import into peroxisome matrix GO:0016558 9.56 PEX1 PEX10 PEX26 PEX5
5 protein targeting to peroxisome GO:0006625 9.54 PEX1 PEX19 PEX6
6 alpha-linolenic acid metabolic process GO:0036109 9.51 ABCD1 ACOX1
7 protein import into peroxisome membrane GO:0045046 9.5 PEX19 PEX26 PEX5
8 fatty acid beta-oxidation GO:0006635 9.5 ABCD1 ABCD2 ABCD3 ACOX1 EHHADH PEX5
9 very long-chain fatty acid metabolic process GO:0000038 9.49 ABCD2 ACOX1
10 peroxisomal long-chain fatty acid import GO:0015910 9.46 ABCD1 ABCD3
11 very long-chain fatty acid catabolic process GO:0042760 9.46 ABCD1 ABCD2 ABCD3 SLC27A2
12 peroxisome organization GO:0007031 9.17 ABCD1 ABCD3 PEX1 PEX10 PEX19 PEX5
13 transport GO:0006810 10.09 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4 BCAP31

Molecular functions related to Adrenoleukodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.86 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4 PEX1
2 enzyme binding GO:0019899 9.73 ABCD1 EHHADH PEX5 SLC27A2
3 protein C-terminus binding GO:0008022 9.63 PEX1 PEX26 PEX6
4 protein complex binding GO:0032403 9.62 BCAP31 PEX1 PEX26 PEX6
5 protein N-terminus binding GO:0047485 9.58 ACOX1 PEX19 PEX5
6 ATPase activity GO:0016887 9.43 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4 PEX6
7 ATPase activity, coupled GO:0042623 9.37 PEX1 PEX6
8 long-chain fatty acid transporter activity GO:0005324 9.33 ABCD1 ABCD2 ABCD3
9 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4

Sources for Adrenoleukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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