ALD
MCID: ADR007
MIFTS: 73

Adrenoleukodystrophy (ALD)

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

Aliases & Classifications for Adrenoleukodystrophy

MalaCards integrated aliases for Adrenoleukodystrophy:

Name: Adrenoleukodystrophy 57 12 74 20 53 73 36 29 13 54 6 44 15 37 39 71
X-Linked Adrenoleukodystrophy 12 74 25 20 43 58
Ald 57 12 20 58 73
Siemerling-Creutzfeldt Disease 57 12 43 73
X-Ald 25 20 43 58
Addison Disease and Cerebral Sclerosis 57 43 73
Melanodermic Leukodystrophy 57 43 73
Bronze Schilder Disease 57 12 73
Adrenomyeloneuropathy 58 73 71
Diffuse Sclerosis 12 53 32
Diffuse Cerebral Sclerosis of Schilder 71
X-Linked Cerebral Adrenoleukodystrophy 58
Encephalitis Periaxialis Concentrica 12
Encephalitis Periaxialis, Schilder's 12
Sudanophilic Cerebral Sclerosis 12
Adrenoleukodystrophy, X-Linked 74
Adrenomyeloneuropathy, Adult 57
Balo's Concentric Sclerosis 71
Schilder-Addison Complex 43
Systemic Scleroderma 71
Schilder Disease 43
X-Linked Ald 58
X-Cald 58
Amn 73

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
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:

25
Penetrance The biochemical phenotype of elevated plasma concentration of vlcfa has nearly 100% penetrance in males....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Adrenoleukodystrophy

MedlinePlus Genetics : 43 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.There are three distinct types of X-linked adrenoleukodystrophy: a childhood cerebral form, an adrenomyeloneuropathy type, and a form called Addison disease only.Children with the cerebral form of X-linked adrenoleukodystrophy experience learning and behavioral problems that usually begin between the ages of 4 and 10. Over time the symptoms worsen, and these children may have difficulty reading, writing, understanding speech, and comprehending written material. Additional signs and symptoms of the cerebral form include aggressive behavior, vision problems, difficulty swallowing, poor coordination, and impaired adrenal gland function. The rate at which this disorder progresses is variable but can be extremely rapid, often leading to total disability within a few years. The life expectancy of individuals with this type depends on the severity of the signs and symptoms and how quickly the disorder progresses. Individuals with the cerebral form of X-linked adrenoleukodystrophy usually survive only a few years after symptoms begin but may survive longer with intensive medical support.Signs and symptoms of the adrenomyeloneuropathy type appear between early adulthood and middle age. Affected individuals develop progressive stiffness and weakness in their legs (paraparesis), experience urinary and genital tract disorders, and often show changes in behavior and thinking ability. Most people with the adrenomyeloneuropathy type also have adrenocortical insufficiency. In some severely affected individuals, damage to the brain and nervous system can lead to early death.People with X-linked adrenoleukodystrophy whose only symptom is adrenocortical insufficiency are said to have the Addison disease only form. In these individuals, adrenocortical insufficiency can begin anytime between childhood and adulthood. However, most affected individuals develop the additional features of the adrenomyeloneuropathy type by the time they reach middle age. The life expectancy of individuals with this form depends on the severity of the signs and symptoms, but typically this is the mildest of the three types.Rarely, individuals with X-linked adrenoleukodystrophy develop multiple features of the disorder in adolescence or early adulthood. In addition to adrenocortical insufficiency, these individuals usually have psychiatric disorders and a loss of intellectual function (dementia). It is unclear whether these individuals have a distinct form of the condition or a variation of one of the previously described types.For reasons that are unclear, different forms of X-linked adrenoleukodystrophy can be seen in affected individuals within the same family.

MalaCards based summary : Adrenoleukodystrophy, also known as x-linked adrenoleukodystrophy, is related to adrenomyeloneuropathy and peroxisomal acyl-coa oxidase deficiency, 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 Prednisolone acetate and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and adrenal cortex, and related phenotypes are intellectual disability and gait disturbance

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.

GARD : 20 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) (Updated 05-Mar-2021)

NINDS : 53 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.

KEGG : 36 Adrenoleukodystrophy (ALD) is an X-linked disorder caused by mutation in the ABCD1 gene that encodes ABCD1/ALDP, a peroxisomal ABC transporter. ALD is biochemically characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in tissues such as adrenal cortex and white matter of central nervous system. The phenotypes can be subdivided into four main categories: Childhood cerebral adrenoleukodystrophy (CCER), adrenomyeloneuropathy (AMN), Addison-only, and asymptomatic. This disorder is characterized by progressive behavioral, cognitive and neurologic deficit.

UniProtKB/Swiss-Prot : 73 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 : 74 Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup... more...

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 385)
# Related Disease Score Top Affiliating Genes
1 adrenomyeloneuropathy 32.9 SLC25A17 ABCD1
2 peroxisomal acyl-coa oxidase deficiency 32.2 HSD17B4 ACOX1
3 neonatal adrenoleukodystrophy 32.2 PEX6 PEX5 PEX26 PEX19 PEX10 PEX1
4 zellweger spectrum disorder 31.6 PEX6 PEX5 PEX26 PEX19 PEX10 PEX1
5 peroxisome biogenesis disorder 1a 31.5 PEX6 PEX5 PEX26 PEX19 PEX10 PEX1
6 d-bifunctional protein deficiency 31.1 HSD17B4 EHHADH ACOX1 ABCD3 ABCD1
7 peroxisome biogenesis disorder 1b 31.0 SLC25A17 PEX6 PEX5 PEX26 PEX19 PEX10
8 demyelinating disease 30.9 SLC25A17 MOG ABCD2 ABCD1
9 leukodystrophy 30.5 SLC25A17 PEX6 PEX5 PEX26 PEX19 PEX10
10 chondrodysplasia punctata syndrome 30.0 PEX6 PEX5 PEX26 PEX19 PEX10
11 deafness, dystonia, and cerebral hypomyelination 30.0 BCAP31 ABCD1
12 cerebral degeneration 30.0 SLC25A17 ABCD4 ABCD3 ABCD2 ABCD1
13 x-linked recessive disease 29.9 SLC25A17 ABCD2 ABCD1
14 peroxisomal disease 29.9 SLC25A17 PEX6 PEX5 PEX26 PEX19 PEX10
15 aminoaciduria 29.7 EHHADH ABCB6
16 sensorineural hearing loss 29.6 PEX6 PEX5 PEX26 PEX10 PEX1
17 zellweger syndrome 29.5 SLC27A2 SLC25A17 PPARA PEX6 PEX5 PEX26
18 peroxisomal biogenesis disorder 29.1 SLC25A17 PEX6 PEX5 PEX26 PEX19 PEX10
19 refsum disease, classic 29.0 SLC25A17 PEX6 PEX5 PEX26 PEX19 PEX10
20 rhizomelic chondrodysplasia punctata 28.9 SLC25A17 PEX6 PEX5 PEX26 PEX19 PEX10
21 imerslund-grasbeck syndrome 1 11.7
22 megaloblastic anemia 11.4
23 x-linked cerebral adrenoleukodystrophy 11.4
24 imerslund-grasbeck syndrome 2 11.3
25 vitamin b12 deficiency 11.0
26 3-methylglutaconic aciduria, type i 11.0
27 peroxisome biogenesis disorder 4b 11.0
28 peroxisome biogenesis disorder 2b 11.0
29 peroxisome biogenesis disorder 3b 11.0
30 peroxisome biogenesis disorder 5b 11.0
31 peroxisome biogenesis disorder 6b 11.0
32 peroxisome biogenesis disorder 7b 11.0
33 peroxisome biogenesis disorder 11b 11.0
34 spasticity 10.9
35 macrocytic anemia 10.9
36 heinz body anemias 10.9
37 donnai-barrow syndrome 10.9
38 vitamin metabolic disorder 10.9
39 congenital intrinsic factor deficiency 10.9
40 3-methylglutaconic aciduria 10.9
41 diphyllobothriasis 10.9
42 tropical sprue 10.9
43 methylmalonic acidemia 10.9
44 peroxisome biogenesis disorder 2a 10.8
45 sudanophilic cerebral sclerosis 10.8
46 peroxisome biogenesis disorder 3a 10.8
47 peroxisome biogenesis disorder 4a 10.8
48 peroxisome biogenesis disorder 5a 10.8
49 peroxisome biogenesis disorder 6a 10.8
50 peroxisome biogenesis disorder 7a 10.8

Graphical network of the top 20 diseases related to Adrenoleukodystrophy:



Diseases related to Adrenoleukodystrophy

Symptoms & Phenotypes for Adrenoleukodystrophy

Human phenotypes related to Adrenoleukodystrophy:

58 31 (show top 50) (show all 100)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001288
3 attention deficit hyperactivity disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007018
4 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001328
5 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
6 abnormality of metabolism/homeostasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001939
7 clumsiness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002312
8 progressive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0001730
9 sensory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0003474
10 dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000726
11 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
12 functional motor deficit 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0004302
13 leg muscle stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0008969
14 progressive spastic paraparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007199
15 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
16 aphasia 58 31 frequent (33%) Frequent (79-30%) HP:0002381
17 hemiparesis 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001269
18 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
19 disinhibition 58 31 frequent (33%) Frequent (79-30%) HP:0000734
20 visual field defect 58 31 frequent (33%) Frequent (79-30%) HP:0001123
21 adrenal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000846
22 neurogenic bladder 58 31 frequent (33%) Frequent (79-30%) HP:0000011
23 urinary bladder sphincter dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0002839
24 increased circulating acth level 58 31 frequent (33%) Frequent (79-30%) HP:0003154
25 inappropriate sexual behavior 58 31 frequent (33%) Frequent (79-30%) HP:0008768
26 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
27 impotence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000802
28 paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003470
29 hearing impairment 58 31 Occasional (29-5%) HP:0000365
30 blindness 58 31 Very rare (<4-1%) HP:0000618
31 primary adrenal insufficiency 58 31 Very frequent (99-80%) HP:0008207
32 paraparesis 58 31 Very frequent (99-80%) HP:0002385
33 incoordination 58 31 Very frequent (99-80%) HP:0002311
34 seizures 58 Occasional (29-5%)
35 neurological speech impairment 58 Occasional (29-5%)
36 ataxia 58 Occasional (29-5%)
37 dysarthria 58 Occasional (29-5%)
38 dysphagia 58 Occasional (29-5%)
39 bowel incontinence 31 HP:0002607
40 behavioral abnormality 58 Very frequent (99-80%),Frequent (79-30%)
41 visual impairment 58 Very frequent (99-80%)
42 cognitive impairment 58 Very frequent (99-80%)
43 slurred speech 31 HP:0001350
44 alopecia 31 HP:0001596
45 abnormality of vision 58 Very frequent (99-80%)
46 reduced visual acuity 58 Occasional (29-5%)
47 dysmetria 58 Occasional (29-5%)
48 mental deterioration 58 Very frequent (99-80%)
49 peripheral neuropathy 58 Very frequent (99-80%)
50 memory impairment 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
ataxia
dementia
loss of speech
more
Genitourinary External Genitalia Male:
impotence

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

Head And Neck Ears:
hearing loss

Endocrine Features:
adrenal insufficiency (addison disease)

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

Genitourinary Bladder:
urinary incontinence

Head And Neck Eyes:
loss of vision

Abdomen Gastrointestinal:
fecal incontinence

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

Clinical features from OMIM®:

300100 (Updated 05-Mar-2021)

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 behavior/neurological MP:0005386 9.9 ABCD1 ABCD2 ABCD3 ABCD4 EHHADH HSD17B4
2 cellular MP:0005384 9.7 ABCB6 ABCD3 ACOX1 EHHADH HSD17B4 MOG
3 liver/biliary system MP:0005370 9.17 ABCD3 ACOX1 EHHADH HSD17B4 PEX1 PEX5

Drugs & Therapeutics for Adrenoleukodystrophy

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

(show top 50) (show all 107)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
2
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
3
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Sodium citrate Approved, Investigational Phase 3 68-04-2
7
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
8
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
9
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
11
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
12
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
13
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
14 Gastrointestinal Agents Phase 3
15 Bile Acids and Salts Phase 3
16 Cholic Acids Phase 3
17 Trace Elements Phase 2, Phase 3
18 Micronutrients Phase 2, Phase 3
19 Nutrients Phase 2, Phase 3
20 Methylprednisolone Acetate Phase 2, Phase 3
21 Vitamin B Complex Phase 2, Phase 3
22 Folate Phase 2, Phase 3
23 Vitamin B9 Phase 2, Phase 3
24 Vitamin B7 Phase 2, Phase 3
25 Antirheumatic Agents Phase 2, Phase 3
26 Citrate Phase 3
27 Phosphodiesterase Inhibitors Phase 3
28 Phosphodiesterase 5 Inhibitors Phase 3
29 Sildenafil Citrate Phase 3 171599-83-0
30 Vasodilator Agents Phase 3
31 Liver Extracts Phase 3
32 Pharmaceutical Solutions Phase 2, Phase 3
33
Pioglitazone Approved, Investigational Phase 2 111025-46-8 4829
34
Melphalan Approved Phase 2 148-82-3 4053 460612
35
tannic acid Approved Phase 2 1401-55-4
36
Hydroxyurea Approved Phase 2 127-07-1 3657
37
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
38
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
39
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
40
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
41
Mesna Approved, Investigational Phase 2 3375-50-6 598
42
Rifaximin Approved, Investigational Phase 2 80621-81-4 6436173 46783403
43
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
44
Tocopherol Approved, Investigational Phase 2 1406-66-2
45
alemtuzumab Approved, Investigational Phase 2 216503-57-0
46
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
47
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
48
Lenograstim Approved, Investigational Phase 2 135968-09-1
49
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
50
Glycerol Approved, Investigational Phase 2 56-81-5 753

Interventional clinical trials:

(show top 50) (show all 74)
# Name Status NCT ID Phase Drugs
1 Phase III Randomized, Double-Blind, Sham-Controlled Study of Plasma Exchange for Acute Severe Attacks of Inflammatory Demyelinating Disease Refractory to Intravenous Methylprednisolone Unknown status NCT00004645 Phase 3
2 MD1003 in Adrenomyeloneuropathy : a Randomized Double Blind Placebo Controlled Study Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
3 Evaluation of the Efficacy of Sildenafil on Time to Healing in Patients With Scleroderma and Ischaemic Digital Ulcers: a Prospective, Longitudinal, Randomized, Comparative, Double-blind, 2-parallel-arm, Placebo-controlled Study Completed NCT01295736 Phase 3 Sildenafil;placebo
4 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
5 Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism Completed NCT00007020 Phase 3 Cholic Acids
6 Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy Recruiting NCT04378075 Phase 2, Phase 3 Vatiquinone
7 A Phase 3 Study of Lenti-D Drug Product After Myeloablative Conditioning Using Busulfan and Fludarabine in Subjects ≤17 Years of Age With Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT03852498 Phase 3
8 A Randomized, Double-blind, Placebo-controlled, Multinational, Multicenter Study With Open-label Treatment Extension to Assess the Effect of MIN-102 (IMP) on the Progression of Adrenomyeloneuropathy in Male Patients With X-linked Adrenoleukodystrophy Active, not recruiting NCT03231878 Phase 2, Phase 3 MIN-102;Placebos
9 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
10 Effect of Plasma Exchange With Albumin in Patients With Adrenomyeloneuropathy: Unicentric, Single Arm, Proof of Concept Study. Not yet recruiting NCT04303416 Phase 2, Phase 3 Albumin solution
11 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
12 Safety and Efficacy Study of Pl-vegf165 to Treat Secondary Raynaud's Phenomenon Caused by Systemic Scleroderma Unknown status NCT02356809 Phase 1, Phase 2 Neovasculgen
13 Phase II, Multicenter, Randomized, Double-blind, Intraindividually Placebo Controlled Clinical Trial, to Evaluate Efficacy and Safety of p144 Topical Administration for Skin Fibrosis in Patients With Systemic Sclerosis Completed NCT00574613 Phase 2 P144;placebo
14 Open Label Extension (OLE) for the Patients Treated in the ISD002-P144-07 Study With P144 Topical Adminsitration for Skin Fibrosis in Patients With Systemic Sclerosis Completed NCT00781053 Phase 2 P144 cream
15 A Clinical Trial for Adrenomyeloneuropathy (AMN): Validation of Biomarkers of Oxidative Stress, and Efficacy, Tolerance and Safety of a Mixture of the Antioxidants N-acetylcysteine, Lipoic Acid and Vitamin E Completed NCT01495260 Phase 2 N-acetylcysteine;lipoic acid;vitamin E
16 Effect of Pioglitazone Administered to Patients With Adrenomyeloneuropathy: a Phase II, Single-arm, Multicentric Clinical Trial Completed NCT03864523 Phase 2 Pioglitazone
17 Study to Assess the Effect of Bosentan on the Treatment of Skin Fibrosis in Patients With Systemic Sclerosis (BTSF) Completed NCT00318175 Phase 2 Bosentan (Tracleer)
18 Trial of High Dose Cyclophosphamide and Rabbit Antithymocyte Globulin (rATG) With Hematopoietic Stem Cell Support in Patients With Systemic Scleroderma: A Randomized Trial Completed NCT00278525 Phase 2 standard of care
19 Allogeneic Hematopoietic Cell Transplantation After Nonmyeloablative Conditioning for Patients With Severe Systemic Sclerosis Completed NCT00622895 Phase 1, Phase 2 fludarabine phosphate;Mycophenolic Acid;tacrolimus
20 A Randomized, Double-Blind, Placebo-Controlled Trial of Topical C-82 in Systemic Sclerosis - A Phase I/II Biomarker and Safety Trial Completed NCT02349009 Phase 1, Phase 2 C-82 Topical Gel, 1%;C-82 Topical Gel, Placebo
21 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
22 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
23 Efficacy and Safety of Rifaximin for Patients With Chronic Intestinal Pseudo-obstruction: a Single Center, Randomized, Placebo Controlled, Double-blind Phase 2 Trial Recruiting NCT04118699 Phase 2 Rifaximin oral tablet;Placebo oral tablet
24 An Open-label, Multicenter Study in Male Pediatric Patients With Cerebral X-linked Adrenoleukodystrophy (Cald) to Assess the Effects of MIN-102 Treatment on Disease Progression Prior to Human Stem Cell Transplant (HSCT) Recruiting NCT04528706 Phase 2 MIN-102
25 A Phase I/II Clinical Trial of Lentiviral Hematopoietic Stem Cell Gene Therapy for Treatment of Developed Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
26 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
27 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG 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)
28 Haploidentical Donor T-cell Replete Allogeneic Hematopoietic Cell Transplant Following Reducing Intensity Conditioning for Patients With Selected High Risk Non-Malignant Disease Recruiting NCT03367546 Phase 2
29 A Phase II Multi-center Study of High-Dose Cyclophosphamide and Antithymocyte Globulin Followed by Autologous Hematopoietic Cell Transplantation With Post Transplant Maintenance for the Treatment of Systemic Sclerosis Active, not recruiting NCT01413100 Phase 2 Cyclophosphamide;Mycophenolate Mofetil;Plerixafor
30 Treatment of Refractory Sever Systemic Scleroderma by Injection of Allogeneic Mesenchymal Stem Cells Active, not recruiting NCT02213705 Phase 1, Phase 2
31 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
32 Study of Glyceryl Trierucate and Glyceryl Trioleate (Lorenzo's Oil) Therapy in Male Children With Adrenoleukodystrophy Terminated NCT00004418 Phase 2 glyceryl trierucate/glyceryl trioleate
33 Placebo Controlled Trial of Bosentan vs Placebo in NYHA Class I/II Scleroderma Patients With Exercise Induced Pulmonary Hypertension Terminated NCT00377455 Phase 2 Bosentan;Placebo
34 Multizenter-Studie Zur UVA-1 Therapie für Die Hautbeteiligung Bei Systemischer Sklerodermie Terminated NCT00628797 Phase 1, Phase 2
35 Phase I/II, Open-Label, Dose Escalation Study of the Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Childhood Cerebral Adrenoleukodystrophy (CCALD) Withdrawn NCT03196765 Phase 1, Phase 2 Sobetirome (NV1205)
36 Phase II Clinical Trial of Allogeneic Hematopoietic Cell Transplantation After Nonmyeloablative Conditioning for Patients With Severe Systemic Sclerosis Withdrawn NCT01047072 Phase 2 fludarabine phosphate;tacrolimus;mycophenolate mofetil;cyclophosphamide
37 Multicentre, Placebo-Controlled, Multi-Dosis, Phase I Clinical Trial to Evaluate the Tolerability and Bioavailability of TGF β1 Inhibitor Peptide 144 After Topical Administration in Healthy Volunteers. Completed NCT00656825 Phase 1 P144 cream;P144 cream;P144 cream;Placebo
38 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
39 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Active, not recruiting NCT02595489 Phase 1
40 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
41 A Prospective Safety, Tolerance, Pharmacodynamics and Pharmacokinetics Study of Sobetirome in Male Subjects Diagnosed With X-linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
42 MT2014-14 Intrathecal Administration of Mesenchymal Stem Cells (IT-MSC) for the Treatment of Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
43 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
44 BIOLOGICAL EXPLORATION OF THE VASCULAR FRACTION FROM THE ADIPOSE TISSUE OF PATIENTS WITH SCLERODERMIA IN THE CONTEXT OF THE DEVELOPMENT OF AN INNOVATIVE CELLULAR THERAPY FOR THE TREATMENT OF FUNCTIONAL HANDICAP OF THE HAND Unknown status NCT03629002
45 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044
46 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
47 Newborn Screening for Adrenoleukodystrophy Completed NCT02952482
48 Effect of Bezafibrate on Very Long Chain Fatty Acid Metabolism in Men With X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Bezafibrate
49 Exercise Study of Function and Pathology for Women With X-ALD Completed NCT01594853
50 A Pilot Study of Repetitive Transcranial Magnetic Stimulation for Improvement of Gait in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416

Search NIH Clinical Center for Adrenoleukodystrophy

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Chloroquine
Chloroquine hydrochloride
chloroquine phosphate
Epoprostenol
Epoprostenol Sodium
Potassium aminobenzoate
Tolazoline
Tolazoline Hydrochloride

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 29 ABCD1

Anatomical Context for Adrenoleukodystrophy

MalaCards organs/tissues related to Adrenoleukodystrophy:

40
Brain, Cortex, Adrenal Cortex, Bone Marrow, Spinal Cord, Skin, Adrenal Gland

Publications for Adrenoleukodystrophy

Articles related to Adrenoleukodystrophy:

(show top 50) (show all 2078)
# Title Authors PMID Year
1
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. 6 25 61 54
11748843 2001
2
Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. 54 61 57 25
10190819 1999
3
A Japanese family with adrenoleukodystrophy with a codon 291 deletion: a clinical, biochemical, pathological, and genetic report. 61 6 57
9702690 1998
4
X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. 61 6 57
7811247 1994
5
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). 61 57 6
7849723 1994
6
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. 57 6 61
7904210 1993
7
Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. 25 57 61
16009761 2005
8
Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening. 61 25 57
15812458 2005
9
Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. 25 61 57
15073029 2004
10
Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion. 61 25 57
12210797 2002
11
Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. 25 57 61
11310629 2001
12
Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. 61 25 57
11085690 2000
13
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. 61 25 57
9894883 1999
14
The prenatal diagnosis of X-linked adrenoleukodystrophy. 57 25 61
10073906 1999
15
Identification of a new frameshift mutation (1801delAG) in the ALD gene. 57 6
7849718 1994
16
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. 61 54 57
19892975 2009
17
Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy. 57 61 54
16401737 2006
18
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. 61 54 6
15811009 2005
19
Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy. 54 61 57
12509471 2003
20
ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN. 6 61 54
11739809 2001
21
Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy. 61 54 57
11063720 2000
22
X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds. 57 54 61
9556303 1998
23
A mouse model for X-linked adrenoleukodystrophy. 57 61 54
9256488 1997
24
Mutations in the adrenoleukodystrophy gene. 57 54 61
9195223 1997
25
Carrier identification of X-linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation. 57 61 54
9007322 1996
26
Adrenoleukodystrophy gene encodes an 80 kDa membrane protein. 57 61 54
8002973 1994
27
Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations. 6 61
21300044 2011
28
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan. 6 61
21068741 2011
29
The burden of inherited leukodystrophies in children. 61 57
20660364 2010
30
Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. 61 57
20179078 2010
31
Lovastatin in X-linked adrenoleukodystrophy. 57 61
20089986 2010
32
Insulin-like growth factor-1 and neurotrophin-3 gene therapy prevents motor decline in an X-linked adrenoleukodystrophy mouse model. 57 61
19670442 2009
33
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. 25 61 54
18757502 2008
34
Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy. 57 61
18344354 2008
35
Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy? 57 61
18571777 2008
36
Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture. 61 57
18344355 2008
37
Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy. 57 61
17353371 2007
38
Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. 61 57
17502464 2007
39
Phenotypes of female adrenoleukodystrophy. 61 57
17372139 2007
40
[Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy]. 61 6
17504626 2007
41
Adrenoleukodystrophy: new approaches to a neurodegenerative disease. 61 57
16380594 2005
42
ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy. 25 61 54
16087056 2005
43
Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency. 57 61
15772093 2005
44
Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy. 57 61
15489218 2004
45
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. 54 25 61
11992258 2002
46
Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. 57 61
11875044 2002
47
Decreasing serum VLCFA levels in ageing X-ALD female carriers. 61 57
11916318 2001
48
Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP. 6 61
11810273 2001
49
Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes. 61 57
11558805 2001
50
Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy. 61 57
11220738 2001

Variations for Adrenoleukodystrophy

ClinVar genetic disease variations for Adrenoleukodystrophy:

6 (show top 50) (show all 397)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCD1 ABCD1, 2-BP DEL, 2177TA Deletion Pathogenic 11309
2 ABCD1 ABCD1, IVS1DS, G-A, -1 SNV Pathogenic 11316
3 ABCD1 NC_000023.10:g.(?_153008421)_(153009209_?)del Deletion Pathogenic 528353 X:153008421-153009209
4 ABCD1 NC_000023.10:g.(?_152959340)_(153009209_?)del Deletion Pathogenic 650697 X:152959340-153009209
5 ABCD1 NC_000023.11:g.(?_153736102)_(153743745_?)del Deletion Pathogenic 830642 X:153001556-153009199
6 ABCD1 NC_000023.11:g.(?_153736102)_(153743735_?)del Deletion Pathogenic 830672 X:153001556-153009189
7 ABCD1 NC_000023.11:g.(?_153736092)_(153743755_?)del Deletion Pathogenic 832309 X:153001546-153009209
8 ABCD1 GRCh37/hg19 Xq28(chrX:152980470-153032459) copy number loss Pathogenic 625802 X:152980470-153032459
9 ABCD1 NC_000023.11:g.(?_153740082)_(153740247_?)del Deletion Pathogenic 645884 X:153005536-153005701 X:153740082-153740247
10 ABCD1 NC_000023.11:g.(?_153743201)_(153743755_?)del Deletion Pathogenic 656289 X:153008655-153009209 X:153743201-153743755
11 ABCD1 NC_000023.11:g.(?_153742977)_(153743745_?)del Deletion Pathogenic 665037 X:153008431-153009199 X:153742977-153743745
12 ABCD1 NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys) SNV Pathogenic 11292 rs128624213 X:152991592-152991592 X:153726137-153726137
13 ABCD1 NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg) SNV Pathogenic 11293 rs128624214 X:153002668-153002668 X:153737214-153737214
14 ABCD1 NM_000033.4(ABCD1):c.1635-2A>G SNV Pathogenic 11294 rs1569541109 X:153006026-153006026 X:153740572-153740572
15 ABCD1 NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter) SNV Pathogenic 11304 rs128624222 X:153002646-153002646 X:153737192-153737192
16 ABCD1 NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe) SNV Pathogenic 11305 rs128624223 X:153005601-153005601 X:153740147-153740147
17 ABCD1 NM_000033.4(ABCD1):c.1634+1G>A SNV Pathogenic 11308 rs1569541096 X:153005692-153005692 X:153740238-153740238
18 ABCD1 NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) Microsatellite Pathogenic 11314 rs387906496 X:152991591-152991593 X:153726136-153726138
19 ABCD1 NM_000033.4(ABCD1):c.1865+1G>A SNV Pathogenic 11315 rs1569541198 X:153008526-153008526 X:153743072-153743072
20 ABCD1 NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) Deletion Pathogenic 11317 rs387906497 X:152990704-152990729 X:153725249-153725274
21 ABCD1 NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser) SNV Pathogenic 11297 rs128624216 X:152991164-152991164 X:153725709-153725709
22 ABCD1 NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp) SNV Pathogenic 11298 rs128624217 X:152991241-152991241 X:153725786-153725786
23 ABCD1 NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) SNV Pathogenic 11299 rs128624218 X:152991517-152991517 X:153726062-153726062
24 ABCD1 NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) SNV Pathogenic 11300 rs128624219 X:153001686-153001686 X:153736232-153736232
25 ABCD1 NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) SNV Pathogenic 11301 rs128624220 X:153001826-153001826 X:153736372-153736372
26 ABCD1 NM_000033.4(ABCD1):c.1866-10G>A SNV Pathogenic 92323 rs398123108 X:153008665-153008665 X:153743211-153743211
27 ABCD1 NM_000033.4(ABCD1):c.253dup (p.Arg85fs) Duplication Pathogenic 162148 rs713993050 X:152990969-152990970 X:153725514-153725515
28 ABCD1 NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) SNV Pathogenic 193033 rs797044610 X:152991608-152991608 X:153726153-153726153
29 ABCD1 NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) SNV Pathogenic 11310 rs128624225 X:153008477-153008477 X:153743023-153743023
30 ABCD1 NM_000033.4(ABCD1):c.70del (p.Leu24fs) Deletion Pathogenic 458648 rs1557052171 X:152990789-152990789 X:153725334-153725334
31 ABCD1 NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) SNV Pathogenic 458641 rs1557052294 X:152991014-152991014 X:153725559-153725559
32 ABCD1 NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter) SNV Pathogenic 458629 rs1557054210 X:153001844-153001844 X:153736390-153736390
33 ABCD1 NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) SNV Pathogenic 458635 rs1557054873 X:153006165-153006165 X:153740711-153740711
34 ABCD1 NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter) SNV Pathogenic 458639 rs1170974058 X:153008949-153008949 X:153743495-153743495
35 ABCD1 NM_000033.4(ABCD1):c.311G>A (p.Arg104His) SNV Pathogenic 458642 rs1557052302 X:152991032-152991032 X:153725577-153725577
36 ABCD1 NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) SNV Pathogenic 458646 rs1557052390 X:152991242-152991242 X:153725787-153725787
37 ABCD1 NM_000033.4(ABCD1):c.1780+2T>G SNV Pathogenic 458636 rs1557054875 X:153006175-153006175 X:153740721-153740721
38 ABCD1 NM_000033.4(ABCD1):c.766_769dup (p.Val257fs) Duplication Pathogenic 458649 rs1557052530 X:152991486-152991487 X:153726031-153726032
39 ABCD1 NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs) Duplication Pathogenic 458647 rs1557052397 X:152991256-152991257 X:153725801-153725802
40 ABCD1 NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) SNV Pathogenic 488393 rs727503786 X:153001685-153001685 X:153736231-153736231
41 ABCD1 NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly) SNV Pathogenic 528337 rs128624224 X:153005609-153005609 X:153740155-153740155
42 ABCD1 NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe) SNV Pathogenic 528338 rs1159943880 X:153005624-153005624 X:153740170-153740170
43 ABCD1 NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) Deletion Pathogenic 528339 rs1557055253 X:153008478-153008481 X:153743024-153743027
44 ABCD1 NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs) Indel Pathogenic 528340 rs1557052133 X:152990737-152990743 X:153725282-153725288
45 ABCD1 NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr) SNV Pathogenic 528344 rs1557054745 X:153005589-153005589 X:153740135-153740135
46 ABCD1 NM_000033.4(ABCD1):c.146_159del (p.Pro49fs) Deletion Pathogenic 566603 rs1569540676 X:152990866-152990879 X:153725411-153725424
47 ABCD1 NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter) SNV Pathogenic 570327 rs782266592 X:153001610-153001610 X:153736156-153736156
48 ABCD1 NM_000033.4(ABCD1):c.1660dup (p.Arg554fs) Duplication Pathogenic 576680 rs1569541115 X:153006052-153006053 X:153740598-153740599
49 ABCD1 NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) SNV Pathogenic 576910 rs1557055316 X:153008685-153008685 X:153743231-153743231
50 ABCD1 NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) SNV Pathogenic 585300 rs1569541000 X:153001580-153001580 X:153736126-153736126

UniProtKB/Swiss-Prot genetic disease variations for Adrenoleukodystrophy:

73 (show top 50) (show all 138)
# Symbol AA change Variation ID SNP ID
1 ABCD1 p.Ser98Leu VAR_000024 rs155705229
2 ABCD1 p.Arg104Cys VAR_000025
3 ABCD1 p.Arg104His VAR_000026 rs155705230
4 ABCD1 p.Thr105Ile VAR_000027
5 ABCD1 p.Leu107Pro VAR_000028 rs156954068
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 rs156954069
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 rs156954108
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 rs155705487

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

Pathways related to Adrenoleukodystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 SLC27A2 HSD17B4 EHHADH ACOX1
2
Show member pathways
11.6 HSD17B4 ACOX1 ABCD1
3 11.44 SLC27A2 PPARA EHHADH ACOX1
4 11.41 SLC27A2 SLC25A17 PEX6 PEX5 PEX26 PEX19
5
Show member pathways
11.18 SLC27A2 HSD17B4 EHHADH ACOX1
6
Show member pathways
11.16 SLC27A2 SLC25A17 HSD17B4 EHHADH ACOX1 ABCD1
7 11.04 PPARA ABCD3 ABCD2
8 10.87 PPARA EHHADH
9 10.48 PPARA ACOX1

GO Terms for Adrenoleukodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.25 SLC27A2 SLC25A17 PEX6 PEX5 PEX26 PEX19
2 cytosol GO:0005829 10.22 SLC27A2 PEX6 PEX5 PEX19 PEX1 HSD17B4
3 integral component of membrane GO:0016021 10.21 SLC27A2 SLC25A17 PEX26 PEX19 PEX10 MOG
4 peroxisomal membrane GO:0005778 9.8 SLC27A2 SLC25A17 PEX6 PEX5 PEX26 PEX19
5 peroxisomal matrix GO:0005782 9.65 PEX5 HSD17B4 EHHADH ACOX1 ABCD3
6 integral component of peroxisomal membrane GO:0005779 9.55 SLC27A2 SLC25A17 PEX26 PEX10 ABCD1
7 peroxisome GO:0005777 9.5 SLC27A2 SLC25A17 PEX6 PEX5 PEX26 PEX19
8 ATP-binding cassette (ABC) transporter complex GO:0043190 9.37 ABCD4 ABCB6

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.07 SLC25A17 PEX19 ABCD4 ABCD3 ABCD2 ABCD1
2 fatty acid metabolic process GO:0006631 9.91 SLC27A2 PPARA HSD17B4 EHHADH ACOX1
3 peroxisome organization GO:0007031 9.81 PEX6 PEX5 PEX19 PEX10 PEX1 ABCD4
4 very long-chain fatty acid metabolic process GO:0000038 9.8 SLC27A2 PEX5 HSD17B4 ACOX1 ABCD2 ABCD1
5 protein import into peroxisome matrix GO:0016558 9.77 PEX6 PEX5 PEX26 PEX10 PEX1
6 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.74 PPARA ABCD2 ABCD1
7 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.73 HSD17B4 EHHADH ACOX1 ABCD1
8 negative regulation of reactive oxygen species biosynthetic process GO:1903427 9.71 PPARA ABCD2 ABCD1
9 peroxisomal long-chain fatty acid import GO:0015910 9.71 ABCD4 ABCD3 ABCD2 ABCD1
10 alpha-linolenic acid metabolic process GO:0036109 9.67 HSD17B4 ACOX1 ABCD1
11 positive regulation of fatty acid beta-oxidation GO:0032000 9.65 PPARA ABCD2 ABCD1
12 very long-chain fatty acid catabolic process GO:0042760 9.65 SLC27A2 ABCD4 ABCD3 ABCD2 ABCD1
13 fatty acid beta-oxidation GO:0006635 9.65 SLC27A2 SLC25A17 PEX5 HSD17B4 EHHADH ACOX1
14 protein import into peroxisome membrane GO:0045046 9.63 PEX5 PEX26 PEX19
15 bile acid biosynthetic process GO:0006699 9.61 SLC27A2 HSD17B4
16 fatty acid transport GO:0015908 9.61 SLC27A2 SLC25A17
17 peroxisome fission GO:0016559 9.6 PEX19 ACOX1
18 neuron projection maintenance GO:1990535 9.59 ABCD2 ABCD1
19 fatty acid alpha-oxidation GO:0001561 9.58 SLC27A2 SLC25A17
20 myelin maintenance GO:0043217 9.58 ABCD2 ABCD1
21 protein import into peroxisome matrix, translocation GO:0016561 9.56 PEX6 PEX5
22 positive regulation of unsaturated fatty acid biosynthetic process GO:2001280 9.55 ABCD2 ABCD1
23 protein targeting to peroxisome GO:0006625 9.32 SLC27A2 PEX6 PEX5 PEX26 PEX19 PEX10

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.1 SLC27A2 PEX6 PEX1 ABCD4 ABCD3 ABCD2
2 ATP binding GO:0005524 10.01 SLC27A2 PEX6 PEX1 ABCD4 ABCD3 ABCD2
3 protein homodimerization activity GO:0042803 9.92 HSD17B4 ACOX1 ABCD3 ABCD2 ABCD1
4 enzyme binding GO:0019899 9.84 SLC27A2 PEX5 EHHADH ABCD1
5 protein-containing complex binding GO:0044877 9.83 PPARA PEX6 PEX26 PEX1 BCAP31
6 ATPase activity GO:0016887 9.7 PEX6 PEX1 ABCD4 ABCD3 ABCD2 ABCD1
7 protein N-terminus binding GO:0047485 9.69 PEX5 PEX19 ACOX1
8 protein C-terminus binding GO:0008022 9.65 PEX6 PEX5 PEX26 PEX10 PEX1
9 enoyl-CoA hydratase activity GO:0004300 9.48 HSD17B4 EHHADH
10 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.46 HSD17B4 EHHADH
11 long-chain-enoyl-CoA hydratase activity GO:0016508 9.37 HSD17B4 EHHADH
12 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.35 ABCD4 ABCD3 ABCD2 ABCD1 ABCB6
13 peroxisome membrane targeting sequence binding GO:0033328 9.32 PEX5 PEX19
14 long-chain fatty acid transporter activity GO:0005324 9.02 SLC27A2 ABCD4 ABCD3 ABCD2 ABCD1

Sources for Adrenoleukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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