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ALD
MCID: ADR007
MIFTS: 72

Adrenoleukodystrophy (ALD)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Adrenoleukodystrophy

About this section

MalaCards integrated aliases for Adrenoleukodystrophy:

Name: Adrenoleukodystrophy 57 38 12 76 53 54 75 37 29 13 55 6 44 15 40 73
X-Linked Adrenoleukodystrophy 12 76 24 53 25 59
Ald 57 12 53 59 75
Siemerling-Creutzfeldt Disease 57 12 25 75
X-Ald 24 53 25 59
Addison Disease and Cerebral Sclerosis 57 25 75
Melanodermic Leukodystrophy 57 25 75
Bronze Schilder Disease 57 12 75
Adrenomyeloneuropathy 59 75 73
Diffuse Cerebral Sclerosis of Schilder 12 73
Schilder's Disease 12 54
Diffuse Sclerosis 12 54
Schilder Disease 12 25
X-Linked Cerebral Adrenoleukodystrophy 59
Encephalitis Periaxialis Concentrica 12
Encephalitis Periaxialis, Schilder's 12
Sudanophilic Cerebral Sclerosis 12
Adrenoleukodystrophy, X-Linked 76
Adrenomyeloneuropathy, Adult 57
Balo's Concentric Sclerosis 73
Schilder-Addison Complex 25
Systemic Scleroderma 73
X-Linked Ald 59
Amn 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
adrenoleukodystrophy:
Onset and clinical course progressive
Inheritance x-linked inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance The biochemical phenotype of elevated plasma concentration of vlcfa has nearly 100% penetrance in males...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare infertility disorders
Inborn errors of metabolism
Rare endocrine diseases


Sources

Summaries for Adrenoleukodystrophy

About this section
NINDS : 54 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; such carriers almost never develop symptoms that are 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 neonatal adrenoleukodystrophy, and has symptoms including seizures, ataxia and pruritus. 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 Methylprednisolone hemisuccinate and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and adrenal gland, and related phenotypes are diplopia and intellectual disability

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 : 25 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 : 53 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. 

OMIM : 57 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 : 75 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.

Wikipedia : 76 Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup... more...

GeneReviews: NBK1315
Sources

Related Diseases for Adrenoleukodystrophy

About this section

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

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 peroxisomal acyl-coa oxidase deficiency 32.9 PEX5 CAT ACOX1
2 neonatal adrenoleukodystrophy 32.5 ACOX1 CAT EHHADH PEX6 PEX5 PEX26
3 peroxisome biogenesis disorder 1a 32.3 PEX1 PEX10
4 zellweger spectrum disorder 31.9 PEX6 PEX10 PEX1
5 peroxisome biogenesis disorder 1b 31.8 PEX6 PEX5 PEX26 PEX19 PEX10 PEX1
6 d-bifunctional protein deficiency 31.2 PEX5 EHHADH CAT ACOX1
7 zellweger syndrome 30.8 PEX6 PEX5 PEX26 PEX19 PEX10 PEX1
8 peroxisomal disease 30.1 PEX5 PEX1 CAT ABCD1
9 refsum disease, classic 30.0 CAT PEX5
10 rhizomelic chondrodysplasia punctata 29.7 PEX26 PEX5
11 peroxisomal biogenesis disorders 29.0 PEX6 PEX5 PEX10 PEX1 CAT BCAP31
12 childhood-onset cerebral x-linked adrenoleukodystrophy 12.5
13 megaloblastic anemia 1 12.1
14 adrenomyeloneuropathy 12.0
15 tumefactive multiple sclerosis 11.9
16 mitochondrial dna depletion syndrome 4a 11.6
17 pelizaeus-merzbacher disease 11.5
18 balo concentric sclerosis 11.5
19 megaloblastic anemia 11.4
20 leukodystrophy 11.4
21 3-methylglutaconic aciduria, type i 11.3
22 vitamin b12 deficiency 11.3
23 albinism-deafness syndrome 11.2
24 peroxisome biogenesis disorder-zellweger syndrome spectrum 11.2
25 donnai-barrow syndrome 11.2
26 vitamin metabolic disorder 11.2
27 congenital intrinsic factor deficiency 11.2
28 peroxisome biogenesis disorder 2b 11.0
29 peroxisome biogenesis disorder 3b 11.0
30 peroxisome biogenesis disorder 4b 11.0
31 peroxisome biogenesis disorder 5b 11.0
32 peroxisome biogenesis disorder 6b 11.0
33 peroxisome biogenesis disorder 7b 11.0
34 peroxisome biogenesis disorder 11b 11.0
35 peroxisome biogenesis disorder 2a 10.9
36 sudanophilic cerebral sclerosis 10.9
37 peroxisome biogenesis disorder 3a 10.9
38 peroxisome biogenesis disorder 4a 10.9
39 peroxisome biogenesis disorder 5a 10.9
40 peroxisome biogenesis disorder 6a 10.9
41 peroxisome biogenesis disorder 7a 10.9
42 peroxisome biogenesis disorder 8a 10.9
43 peroxisome biogenesis disorder 8b 10.9
44 peroxisome biogenesis disorder 9b 10.9
45 peroxisome biogenesis disorder 10a 10.9
46 peroxisome biogenesis disorder 11a 10.9
47 peroxisome biogenesis disorder 12a 10.9
48 peroxisome biogenesis disorder 13a 10.9
49 wells-jankovic syndrome 10.9
50 myelinoclastic diffuse sclerosis 10.9

Graphical network of the top 20 diseases related to Adrenoleukodystrophy:



Diseases related to Adrenoleukodystrophy
Sources

Symptoms & Phenotypes for Adrenoleukodystrophy

About this section

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
spasticity
dementia
bulbar palsy
more
Genitourinary Bladder:
urinary incontinence

Head And Neck Ears:
hearing loss

Neurologic Peripheral Nervous System:
sensory loss
distal axonopathy (adrenomyeloneuropathy)

Endocrine Features:
adrenal insufficiency (addison disease)

Neurologic Behavioral Psychiatric Manifestations:
psychosis
autistic features
behavioral changes
attention deficit-hyperactivity disorder

Genitourinary External Genitalia Male:
impotence

Abdomen Gastrointestinal:
fecal incontinence

Head And Neck Eyes:
loss of vision

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


Clinical features from OMIM:

300100

Human phenotypes related to Adrenoleukodystrophy:

59 32 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diplopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000651
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
4 increased intracranial pressure 59 32 frequent (33%) Frequent (79-30%) HP:0002516
5 abnormality of metabolism/homeostasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001939
6 attention deficit hyperactivity disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007018
7 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
8 urinary bladder sphincter dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0002839
9 visual field defect 59 32 frequent (33%) Frequent (79-30%) HP:0001123
10 aphasia 59 32 frequent (33%) Frequent (79-30%) HP:0002381
11 aggressive behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000718
12 visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000572
13 paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003470
14 dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000726
15 clumsiness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002312
16 headache 59 32 hallmark (90%) Very frequent (99-80%) HP:0002315
17 impotence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000802
18 increased circulating acth level 59 32 frequent (33%) Frequent (79-30%) HP:0003154
19 disinhibition 59 32 frequent (33%) Frequent (79-30%) HP:0000734
20 hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0001269
21 progressive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0001730
22 incoordination 59 32 Very frequent (99-80%) HP:0002311
23 paraparesis 59 32 Very frequent (99-80%) HP:0002385
24 sensory impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0003474
25 progressive spastic paraparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007199
26 leg muscle stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0008969
27 neurogenic bladder 59 32 frequent (33%) Frequent (79-30%) HP:0000011
28 adrenal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000846
29 inappropriate sexual behavior 59 32 frequent (33%) Frequent (79-30%) HP:0008768
30 seizures 32 HP:0001250
31 bowel incontinence 32 HP:0002607
32 hearing impairment 32 HP:0000365
33 behavioral abnormality 59 Very frequent (99-80%)
34 visual impairment 59 Very frequent (99-80%)
35 blindness 32 HP:0000618
36 cognitive impairment 59 Very frequent (99-80%)
37 abnormality of vision 59 Very frequent (99-80%)
38 slurred speech 32 HP:0001350
39 limb ataxia 32 HP:0002070
40 abnormality of the skeletal system 32 HP:0000924
41 primary adrenal insufficiency 32 HP:0008207
42 hypogonadism 32 HP:0000135
43 psychosis 32 HP:0000709
44 neurodegeneration 32 HP:0002180
45 truncal ataxia 32 HP:0002078
46 spastic paraplegia 32 HP:0001258
47 urinary incontinence 32 HP:0000020
48 hyperactivity 59 Very frequent (99-80%)
49 polyneuropathy 32 HP:0001271
50 bulbar palsy 32 HP:0001283

UMLS symptoms related to Adrenoleukodystrophy:


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

MGI Mouse Phenotypes related to Adrenoleukodystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 ABCB6 ABCD1 ABCD2 ABCD3 ACOX1 CAT
Sources

Drugs & Therapeutics for Adrenoleukodystrophy

About this section

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

(show top 50) (show all 94)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3 6055-19-2, 50-18-0 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
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
6
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 55-98-1 2478
7
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
8
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
10
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
11
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
12 Vitamin B7 Phase 2, Phase 3
13 Vitamin B Complex Phase 2, Phase 3
14 Vitamins Phase 2, Phase 3,Phase 1
15 Micronutrients Phase 2, Phase 3,Phase 1
16 Vitamin B9 Phase 2, Phase 3
17 Trace Elements Phase 2, Phase 3,Phase 1
18 Folate Phase 2, Phase 3
19 Bile Acids and Salts Phase 3,Not Applicable
20 Cholic Acids Phase 3,Not Applicable
21 Gastrointestinal Agents Phase 3,Not Applicable
22 Liver Extracts Phase 3
23 Prednisolone acetate Phase 2, Phase 3
24 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
25 Methylprednisolone acetate Phase 2, Phase 3
26 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable
27 Immunologic Factors Phase 2, Phase 3,Phase 1,Not Applicable
28 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 1,Not Applicable
29 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
30 Antilymphocyte Serum Phase 2, Phase 3,Phase 1
31 Lipid Regulating Agents Phase 3,Not Applicable
32 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
33 Hypolipidemic Agents Phase 3,Not Applicable
34 Pharmaceutical Solutions Phase 2, Phase 3
35
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
36
Acetylcysteine Approved, Investigational Phase 2,Phase 1 616-91-1 12035
37
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
38
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
39 tannic acid Approved Phase 2,Not Applicable
40
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
41
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
42
Hydroxyurea Approved Phase 2 127-07-1 3657
43
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
44
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
45
Mesna Approved, Investigational Phase 2 3375-50-6 598
46
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
47
Fludarabine Approved Phase 2,Phase 1 75607-67-9, 21679-14-1 30751
48
rituximab Approved Phase 2 174722-31-7 10201696
49
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
50
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985

Interventional clinical trials:

(show all 44)
# 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) Active, not recruiting NCT01896102 Phase 2, Phase 3
6 A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. Active, not 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 Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Recruiting NCT03196765 Phase 1, Phase 2 Sobetirome (NV1205)
14 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
15 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases Recruiting NCT03367546 Phase 2
16 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)
17 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
18 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
19 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
20 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
21 A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of OP-101 After Intravenous Administration in Healthy Volunteers Completed NCT03500627 Phase 1 OP-101
22 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1
23 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
24 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
25 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
26 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
27 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044 Not Applicable
28 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
29 Newborn Screening for Adrenoleukodystrophy Completed NCT02952482
30 The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Not Applicable Bezafibrate
31 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853 Not Applicable
32 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 Not Applicable glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
33 Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416 Not Applicable
34 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
35 Lentiviral Gene Therapy for X-ALD Recruiting NCT03727555 Not Applicable
36 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Recruiting NCT03278899
37 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
38 Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants Available NCT01881334
39 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
40 Minnesota Adrenoleukodystrophy Registry Study (MARS) and Biobank Not yet recruiting NCT03789721
41 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919
42 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil
43 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable chenodeoxycholic acid;cholic acid;ursodiol
44 Early Diagnosis Of Childhood Cerebral ALD Withdrawn NCT02948062

Search NIH Clinical Center for Adrenoleukodystrophy

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Adrenoleukodystrophy cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Adrenoleukodystrophy:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Enriched hematopoetic stem cell for inherited metabolic disorders
Hemacord�, umbilical cord blood-derived hematopoietic progenitor cells for hematopoietic reconstitution
Embryonic/Adult Cultured Cells Related to Adrenoleukodystrophy:
Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905
Bone marrow-derived hematopoietic stem cells (family) PMIDs: 22430083
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD�) PMIDs: 9828244

Cochrane evidence based reviews: adrenoleukodystrophy

Sources

Genetic Tests for Adrenoleukodystrophy

About this section

Genetic tests related to Adrenoleukodystrophy:

# Genetic test Affiliating Genes
1 Adrenoleukodystrophy 29 ABCD1
Sources

Anatomical Context for Adrenoleukodystrophy

About this section

MalaCards organs/tissues related to Adrenoleukodystrophy:

41
Brain, Cortex, Adrenal Gland, Adrenal Cortex, Skin, Bone, Bone Marrow
Sources

Publications for Adrenoleukodystrophy

About this section

Articles related to Adrenoleukodystrophy:

(show top 50) (show all 1035)
# Title Authors Year
1
The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration. ( 30252065 )
2019
2
Allogeneic stem cell transplantation with reduced intensity conditioning for patients with adrenoleukodystrophy. ( 30519529 )
2019
3
Modeling and rescue of defective blood-brain barrier function of induced brain microvascular endothelial cells from childhood cerebral adrenoleukodystrophy patients. ( 29615068 )
2018
4
Haploidentical bone marrow transplantation with post transplant cyclophosphamide for patients with X-linked adrenoleukodystrophy: a suitable choice in an urgent situation. ( 29330393 )
2018
5
A novel temporal pattern of childhood cerebral X-linked adrenoleukodystrophy. ( 29132975 )
2018
6
Impaired plasticity of macrophages in X-linked adrenoleukodystrophy. ( 29860501 )
2018
7
Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation. ( 29476661 )
2018
8
Gene Therapy for Cerebral Adrenoleukodystrophy. ( 29385368 )
2018
9
Post-transplant adaptive function in childhood cerebral adrenoleukodystrophy. ( 29560371 )
2018
10
Spastic paraparesis caused by X-linked adrenoleukodystrophy mimicking vacuolar myelopathy in a human immunodeficiency virus patient: A case report. ( 29768358 )
2018
11
Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy. ( 28964670 )
2018
12
Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy. ( 29946687 )
2018
13
A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report. ( 29794777 )
2018
14
Busulfan, Fludarabine, and Cyclophosphamide (BFC) conditioning allowed stable engraftment after haplo-identical allogeneic stem cell transplantation in children with adrenoleukodystrophy and mucopolysaccharidosis. ( 29725109 )
2018
15
Rare variability in adrenoleukodystrophy: a case report. ( 29950168 )
2018
16
Stability of the ABCD1 Protein with a Missense Mutation: AA Novel Approach to Finding Therapeutic Compounds forA X-Linked Adrenoleukodystrophy. ( 29926352 )
2018
17
Childhood cerebral X-linked adrenoleukodystrophy with atypical neuroimaging abnormalities and a novel mutation. ( 29386416 )
2018
18
Etiology and treatment of adrenoleukodystrophy: new insights from <i>Drosophila</i>. ( 29739804 )
2018
19
Liquid chromatography-tandem mass spectrometry method for estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy. ( 30018013 )
2018
20
Dendrimer-N-acetyl-L-cysteine modulates monophagocytic response in adrenoleukodystrophy. ( 30069915 )
2018
21
Characteristics of Japanese patients with X-linked adrenoleukodystrophy and concerns of their families from the 1st registry system. ( 30077509 )
2018
22
Allogeneic haematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X-linked adrenoleukodystrophy. ( 30132230 )
2018
23
Anaesthetic management of a child with adrenoleukodystrophy: A case report. ( 30166663 )
2018
24
Adrenoleukodystrophy: Guidance for Adrenal Surveillance in Males Identified by Newborn Screen. ( 30289543 )
2018
25
Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation. ( 30292747 )
2018
26
Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme. ( 30309370 )
2018
27
A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report. ( 30343438 )
2018
28
Perioperative management of a female diagnosed with heterozygous X-linked adrenoleukodystrophy for shoulder arthroscopy. ( 30447897 )
2018
29
Integrative lipidomic and transcriptomic analysis of X-linked adrenoleukodystrophy reveals distinct lipidome signatures between adrenomyeloneuropathy and childhood cerebral adrenoleukodystrophy. ( 30509496 )
2018
30
Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness. ( 30535170 )
2018
31
Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy. ( 30544401 )
2018
32
Gene Therapy for Cerebral Adrenoleukodystrophy. ( 29394476 )
2018
33
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers. ( 29680633 )
2018
34
When multiple sclerosis and X-linked adrenoleukodystrophy are tangled: A challenging case. ( 29708222 )
2018
35
Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review. ( 29909188 )
2018
36
Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy. ( 29997171 )
2018
37
A Thyroid Hormone-Based Strategy for Correcting the Biochemical Abnormality in X-Linked Adrenoleukodystrophy. ( 28200172 )
2017
38
X-linked adult-onset adrenoleukodystrophy: Psychiatric and neurological manifestations. ( 29201369 )
2017
39
Beam Me In: Thyroid Hormone Analog Targets Alternative Transporter in Mouse Model of X-Linked Adrenoleukodystrophy ( 28609836 )
2017
40
New insights into adrenoleukodystrophy. ( 28552315 )
2017
41
S149R, a novel mutation in the<i>ABCD1</i>gene causing X-linked adrenoleukodystrophy. ( 29152099 )
2017
42
Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy. ( 28004277 )
2017
43
Heat shock protein expression in cerebral X-linked adrenoleukodystrophy reveals astrocyte stress prior to myelin loss. ( 28319253 )
2017
44
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
45
Neurometabolic disease: Gene therapy success for cerebral adrenoleukodystrophy. ( 29064470 )
2017
46
Psychiatric disease in an adolescent as a harbinger of cerebral X-linked adrenoleukodystrophy. ( 29175874 )
2017
47
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. ( 28976817 )
2017
48
Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN). ( 29065337 )
2017
49
Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study. ( 28274546 )
2017
50
Relative adrenal insufficiency in adult-onset cerebral X-linked adrenoleukodystrophy. ( 29620081 )
2017
Sources

Variations for Adrenoleukodystrophy

About this section

UniProtKB/Swiss-Prot genetic disease variations for Adrenoleukodystrophy:

75 (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 rs105751795
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 rs113169174
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 rs113169195
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 349)
# 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.871G> A (p.Glu291Lys) single nucleotide variant Pathogenic rs128624213 GRCh38 Chromosome X, 153726137: 153726137
3 ABCD1 NM_000033.3(ABCD1): c.1451C> G (p.Pro484Arg) single nucleotide variant Pathogenic rs128624214 GRCh37 Chromosome X, 153002668: 153002668
4 ABCD1 NM_000033.3(ABCD1): c.1451C> G (p.Pro484Arg) single nucleotide variant Pathogenic rs128624214 GRCh38 Chromosome X, 153737214: 153737214
5 ABCD1 NM_000033.3(ABCD1): c.1635-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome X, 153006026: 153006026
6 ABCD1 NM_000033.3(ABCD1): c.1635-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome X, 153740572: 153740572
7 ABCD1 NM_000033.3(ABCD1): c.1165C> G (p.Arg389Gly) single nucleotide variant Pathogenic rs128624215 GRCh37 Chromosome X, 153001649: 153001649
8 ABCD1 NM_000033.3(ABCD1): c.1165C> G (p.Arg389Gly) single nucleotide variant Pathogenic rs128624215 GRCh38 Chromosome X, 153736195: 153736195
9 ABCD1 NM_000033.3(ABCD1): c.443A> G (p.Asn148Ser) single nucleotide variant Pathogenic rs128624216 GRCh37 Chromosome X, 152991164: 152991164
10 ABCD1 NM_000033.3(ABCD1): c.443A> G (p.Asn148Ser) single nucleotide variant Pathogenic rs128624216 GRCh38 Chromosome X, 153725709: 153725709
11 ABCD1 NM_000033.3(ABCD1): c.520T> G (p.Tyr174Asp) single nucleotide variant Pathogenic rs128624217 GRCh37 Chromosome X, 152991241: 152991241
12 ABCD1 NM_000033.3(ABCD1): c.520T> G (p.Tyr174Asp) single nucleotide variant Pathogenic rs128624217 GRCh38 Chromosome X, 153725786: 153725786
13 ABCD1 NM_000033.3(ABCD1): c.796G> A (p.Gly266Arg) single nucleotide variant Pathogenic rs128624218 GRCh37 Chromosome X, 152991517: 152991517
14 ABCD1 NM_000033.3(ABCD1): c.796G> A (p.Gly266Arg) single nucleotide variant Pathogenic rs128624218 GRCh38 Chromosome X, 153726062: 153726062
15 ABCD1 NM_000033.3(ABCD1): c.1202G> A (p.Arg401Gln) single nucleotide variant Pathogenic rs128624219 GRCh37 Chromosome X, 153001686: 153001686
16 ABCD1 NM_000033.3(ABCD1): c.1202G> A (p.Arg401Gln) single nucleotide variant Pathogenic rs128624219 GRCh38 Chromosome X, 153736232: 153736232
17 ABCD1 NM_000033.3(ABCD1): c.1252C> T (p.Arg418Trp) single nucleotide variant Pathogenic/Likely pathogenic rs128624220 GRCh37 Chromosome X, 153001826: 153001826
18 ABCD1 NM_000033.3(ABCD1): c.1252C> T (p.Arg418Trp) single nucleotide variant Pathogenic/Likely pathogenic rs128624220 GRCh38 Chromosome X, 153736372: 153736372
19 ABCD1 NM_000033.3(ABCD1): c.1390C> T (p.Arg464Ter) single nucleotide variant Pathogenic rs128624221 GRCh37 Chromosome X, 153001964: 153001964
20 ABCD1 NM_000033.3(ABCD1): c.1390C> T (p.Arg464Ter) single nucleotide variant Pathogenic rs128624221 GRCh38 Chromosome X, 153736510: 153736510
21 ABCD1 NM_000033.3(ABCD1): c.1415_1416delAG (p.Gln472Argfs) deletion Pathogenic rs387906494 GRCh37 Chromosome X, 153002632: 153002633
22 ABCD1 NM_000033.3(ABCD1): c.1415_1416delAG (p.Gln472Argfs) deletion Pathogenic rs387906494 GRCh38 Chromosome X, 153737178: 153737179
23 ABCD1 NM_000033.3(ABCD1): c.1429G> T (p.Glu477Ter) single nucleotide variant Pathogenic rs128624222 GRCh37 Chromosome X, 153002646: 153002646
24 ABCD1 NM_000033.3(ABCD1): c.1429G> T (p.Glu477Ter) single nucleotide variant Pathogenic rs128624222 GRCh38 Chromosome X, 153737192: 153737192
25 ABCD1 NM_000033.3(ABCD1): c.1544C> T (p.Ser515Phe) single nucleotide variant Pathogenic rs128624223 GRCh37 Chromosome X, 153005601: 153005601
26 ABCD1 NM_000033.3(ABCD1): c.1544C> T (p.Ser515Phe) single nucleotide variant Pathogenic rs128624223 GRCh38 Chromosome X, 153740147: 153740147
27 ABCD1 NM_000033.3(ABCD1): c.1552delC (p.Arg518Glyfs) deletion Pathogenic rs387906495 GRCh37 Chromosome X, 153005609: 153005609
28 ABCD1 NM_000033.3(ABCD1): c.1552delC (p.Arg518Glyfs) deletion Pathogenic rs387906495 GRCh38 Chromosome X, 153740155: 153740155
29 ABCD1 NM_000033.3(ABCD1): c.1552C> T (p.Arg518Trp) single nucleotide variant Pathogenic rs128624224 GRCh37 Chromosome X, 153005609: 153005609
30 ABCD1 NM_000033.3(ABCD1): c.1552C> T (p.Arg518Trp) single nucleotide variant Pathogenic rs128624224 GRCh38 Chromosome X, 153740155: 153740155
31 ABCD1 NM_000033.3(ABCD1): c.1634+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 153005692: 153005692
32 ABCD1 NM_000033.3(ABCD1): c.1634+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 153740238: 153740238
33 ABCD1 ABCD1, 2-BP DEL, 2177TA deletion Pathogenic
34 ABCD1 NM_000033.3(ABCD1): c.1817C> T (p.Ser606Leu) single nucleotide variant Pathogenic rs128624225 GRCh37 Chromosome X, 153008477: 153008477
35 ABCD1 NM_000033.3(ABCD1): c.1817C> T (p.Ser606Leu) single nucleotide variant Pathogenic rs128624225 GRCh38 Chromosome X, 153743023: 153743023
36 ABCD1 NM_000033.3(ABCD1): c.1850G> A (p.Arg617His) single nucleotide variant Pathogenic rs11146842 GRCh37 Chromosome X, 153008510: 153008510
37 ABCD1 NM_000033.3(ABCD1): c.1850G> A (p.Arg617His) single nucleotide variant Pathogenic rs11146842 GRCh38 Chromosome X, 153743056: 153743056
38 ABCD1 NM_000033.3(ABCD1): c.1849C> T (p.Arg617Cys) single nucleotide variant Pathogenic rs4010613 GRCh37 Chromosome X, 153008509: 153008509
39 ABCD1 NM_000033.3(ABCD1): c.1849C> T (p.Arg617Cys) single nucleotide variant Pathogenic rs4010613 GRCh38 Chromosome X, 153743055: 153743055
40 ABCD1 NM_000033.3(ABCD1): c.874_876delGAG (p.Glu292del) deletion Pathogenic/Likely pathogenic rs387906496 GRCh37 Chromosome X, 152991595: 152991597
41 ABCD1 NM_000033.3(ABCD1): c.874_876delGAG (p.Glu292del) deletion Pathogenic/Likely pathogenic rs387906496 GRCh38 Chromosome X, 153726140: 153726142
42 ABCD1 NM_000033.3(ABCD1): c.1865+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 153743072: 153743072
43 ABCD1 NM_000033.3(ABCD1): c.1865+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 153008526: 153008526
44 ABCD1 ABCD1, IVS1DS, G-A, -1 single nucleotide variant Pathogenic
45 ABCD1 NM_000033.3(ABCD1): c.-18_8del26 (p.Met1_Gly66del) deletion Pathogenic rs387906497 GRCh37 Chromosome X, 152990704: 152990729
46 ABCD1 NM_000033.3(ABCD1): c.-18_8del26 (p.Met1_Gly66del) deletion Pathogenic rs387906497 GRCh38 Chromosome X, 153725249: 153725274
47 ABCD1 NM_000033.3(ABCD1): c.1366dupC (p.Arg456Profs) duplication Likely pathogenic rs193922093 GRCh37 Chromosome X, 153001940: 153001940
48 ABCD1 NM_000033.3(ABCD1): c.1366dupC (p.Arg456Profs) duplication Likely pathogenic rs193922093 GRCh38 Chromosome X, 153736486: 153736486
49 ABCD1 NM_000033.3(ABCD1): c.1592T> C (p.Leu531Pro) single nucleotide variant Likely pathogenic rs193922094 GRCh37 Chromosome X, 153005649: 153005649
50 ABCD1 NM_000033.3(ABCD1): c.1592T> C (p.Leu531Pro) single nucleotide variant Likely pathogenic rs193922094 GRCh38 Chromosome X, 153740195: 153740195
Sources

Expression for Adrenoleukodystrophy

About this section
Search GEO for disease gene expression data for Adrenoleukodystrophy.
Sources

Pathways for Adrenoleukodystrophy

About this section

Pathways related to Adrenoleukodystrophy according to KEGG:

37
# Name Kegg Source Accession
1 ABC transporters hsa02010
2 Peroxisome hsa04146

Pathways related to Adrenoleukodystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Peroxisome 37
11.39 ABCD1 ABCD2 ABCD3 ABCD4 ACOX1 CAT
2
PPAR signaling pathway 37
11.3 ACOX1 EHHADH SLC27A2
3
fatty acid beta-oxidation (peroxisome) 1
Show member pathways
 11.06 ACOX1 EHHADH SLC27A2
4
alpha-linolenic acid (ALA) metabolism 66
Show member pathways
 11.01 ABCD1 ACOX1
5
Peroxisomal lipid metabolism 66
Show member pathways
 10.98 ABCD1 ACOX1 EHHADH SLC27A2
6
Nuclear Receptors in Lipid Metabolism and Toxicity 1
10.87 ABCD2 ABCD3
Sources

GO Terms for Adrenoleukodystrophy

About this section

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.83 ABCB6 ABCD1 ABCD4 BCAP31 SLC27A2
2 peroxisome GO:0005777 9.8 ABCD1 ABCD2 ABCD3 ABCD4 ACOX1 CAT
3 peroxisomal matrix GO:0005782 9.56 ABCD3 ACOX1 CAT EHHADH
4 integral component of peroxisomal membrane GO:0005779 9.46 ABCD1 PEX10 PEX26 SLC27A2
5 peroxisomal membrane GO:0005778 9.44 ABCD1 ABCD2 ABCD3 ABCD4 ACOX1 CAT
6 ATP-binding cassette (ABC) transporter complex GO:0043190 9.4 ABCB6 ABCD4
7 membrane GO:0016020 10.24 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4 ACOX1
8 cytosol GO:0005829 10.13 ABCB6 ABCD1 ABCD2 ABCD3 ACOX1 BCAP31

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

(show all 18)
# 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 9.75 ACOX1 EHHADH SLC27A2
3 fatty acid beta-oxidation GO:0006635 9.7 ABCD1 ABCD2 ABCD3 ACOX1 EHHADH PEX5
4 protein import into peroxisome matrix GO:0016558 9.65 PEX1 PEX10 PEX26 PEX5 PEX6
5 protein targeting to peroxisome GO:0006625 9.65 ACOX1 CAT EHHADH PEX1 PEX10 PEX19
6 very long-chain fatty acid catabolic process GO:0042760 9.62 ABCD1 ABCD2 ABCD3 SLC27A2
7 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.58 ABCD1 ACOX1 EHHADH
8 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.57 ABCD1 ABCD2
9 alpha-linolenic acid metabolic process GO:0036109 9.56 ABCD1 ACOX1
10 negative regulation of reactive oxygen species biosynthetic process GO:1903427 9.55 ABCD1 ABCD2
11 very long-chain fatty acid metabolic process GO:0000038 9.54 ABCD2 ACOX1
12 protein import into peroxisome membrane GO:0045046 9.54 PEX19 PEX26 PEX5
13 neuron projection maintenance GO:1990535 9.52 ABCD1 ABCD2
14 positive regulation of fatty acid beta-oxidation GO:0032000 9.51 ABCD1 ABCD2
15 myelin maintenance GO:0043217 9.49 ABCD1 ABCD2
16 peroxisomal long-chain fatty acid import GO:0015910 9.46 ABCD1 ABCD3
17 positive regulation of unsaturated fatty acid biosynthetic process GO:2001280 9.43 ABCD1 ABCD2
18 peroxisome organization GO:0007031 9.17 ABCD1 ABCD3 PEX1 PEX10 PEX19 PEX5

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.86 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4 PEX1
2 nucleotide binding GO:0000166 9.78 ABCB6 ABCD1 ABCD2 SLC27A2
3 signaling receptor binding GO:0005102 9.76 ACOX1 CAT EHHADH SLC27A2
4 enzyme binding GO:0019899 9.72 ABCD1 CAT EHHADH PEX5 SLC27A2
5 protein C-terminus binding GO:0008022 9.67 PEX1 PEX26 PEX6
6 protein-containing complex binding GO:0044877 9.67 BCAP31 PEX1 PEX26 PEX6
7 protein N-terminus binding GO:0047485 9.58 ACOX1 PEX19 PEX5
8 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.55 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4
9 ATPase activity, coupled GO:0042623 9.43 PEX1 PEX6
10 long-chain fatty acid transporter activity GO:0005324 9.26 ABCD1 ABCD2 ABCD3 SLC27A2
11 ATPase activity GO:0016887 9.17 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4 PEX1
Sources

Sources for Adrenoleukodystrophy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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