ALD
MCID: ADR007
MIFTS: 75

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 56 12 74 52 53 73 36 29 13 54 6 43 15 37 39 71
X-Linked Adrenoleukodystrophy 12 74 24 52 25 58
Ald 56 12 52 58 73
Siemerling-Creutzfeldt Disease 56 12 25 73
X-Ald 24 52 25 58
Addison Disease and Cerebral Sclerosis 56 25 73
Melanodermic Leukodystrophy 56 25 73
Bronze Schilder Disease 56 12 73
Adrenomyeloneuropathy 58 73 71
Diffuse Sclerosis 12 53 32
Diffuse Cerebral Sclerosis of Schilder 12 71
Schilder's Disease 12 53
Schilder Disease 12 25
X-Linked Cerebral Adrenoleukodystrophy 58
Encephalitis Periaxialis Concentrica 12
Encephalitis Periaxialis, Schilder's 12
Sudanophilic Cerebral Sclerosis 12
Adrenoleukodystrophy, X-Linked 74
Adrenomyeloneuropathy, Adult 56
Balo's Concentric Sclerosis 71
Schilder-Addison Complex 25
Systemic Scleroderma 71
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:

56
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:

24
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

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. 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 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 Tadalafil and Bosentan have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and lung, 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.

NIH Rare Diseases : 52 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 : 56 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)

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 392)
# Related Disease Score Top Affiliating Genes
1 adrenomyeloneuropathy 34.0 SLC25A17 ABCD1
2 neonatal adrenoleukodystrophy 33.6 PEX6 PEX5 PEX26 PEX19 PEX10 PEX1
3 peroxisomal acyl-coa oxidase deficiency 33.2 HSD17B4 ACOX1
4 zellweger spectrum disorder 32.5 PEX6 PEX5 PEX26 PEX19 PEX10 PEX1
5 peroxisome biogenesis disorder 1a 32.5 PEX6 PEX5 PEX26 PEX19 PEX10 PEX1
6 d-bifunctional protein deficiency 31.8 HSD17B4 EHHADH ACOX1 ABCD3 ABCD1
7 peroxisome biogenesis disorder 1b 31.6 SLC25A17 PEX6 PEX5 PEX26 PEX19 PEX10
8 leukodystrophy 31.3 SLC25A17 PEX6 PEX5 PEX26 PEX19 PEX10
9 demyelinating disease 31.0 SLC25A17 MOG ABCD2 ABCD1
10 chondrodysplasia punctata syndrome 30.3 SLC25A17 PEX6 PEX5 PEX26 PEX10
11 x-linked recessive disease 30.2 SLC25A17 ABCD2 ABCD1
12 deafness, dystonia, and cerebral hypomyelination 30.2 BCAP31 ABCD1
13 cerebral degeneration 30.1 SLC25A17 PEX10 ABCD4 ABCD3 ABCD2 ABCD1
14 aminoaciduria 29.7 EHHADH ABCB6
15 peroxisomal disease 29.3 SLC25A17 PEX6 PEX5 PEX26 PEX19 PEX10
16 zellweger syndrome 29.0 SLC27A2 SLC25A17 PPARA PEX6 PEX5 PEX26
17 refsum disease, classic 28.8 SLC25A17 PEX6 PEX5 PEX26 PEX10 PEX1
18 rhizomelic chondrodysplasia punctata 28.6 SLC25A17 PEX6 PEX5 PEX26 PEX19 PEX10
19 peroxisomal biogenesis disorder 28.5 SLC25A17 PEX6 PEX5 PEX26 PEX19 PEX10
20 sudanophilic cerebral sclerosis 12.7
21 x-linked cerebral adrenoleukodystrophy 12.6
22 megaloblastic anemia 12.2
23 imerslund-grasbeck syndrome 1 12.2
24 imerslund-grasbeck syndrome 2 12.2
25 mitochondrial dna depletion syndrome 4a 11.8
26 balo concentric sclerosis 11.8
27 vitamin b12 deficiency 11.6
28 peroxisome biogenesis disorder 4b 11.5
29 macrocytic anemia 11.5
30 spasticity 11.5
31 3-methylglutaconic aciduria, type i 11.3
32 marburg acute multiple sclerosis 11.3
33 peroxisome biogenesis disorder 2b 11.2
34 peroxisome biogenesis disorder 3b 11.2
35 peroxisome biogenesis disorder 5b 11.2
36 peroxisome biogenesis disorder 6b 11.2
37 peroxisome biogenesis disorder 7b 11.2
38 peroxisome biogenesis disorder 11b 11.2
39 donnai-barrow syndrome 11.2
40 vitamin metabolic disorder 11.2
41 congenital intrinsic factor deficiency 11.2
42 3-methylglutaconic aciduria 11.2
43 tropical sprue 11.2
44 peroxisome biogenesis disorder 2a 11.1
45 peroxisome biogenesis disorder 3a 11.1
46 peroxisome biogenesis disorder 4a 11.1
47 peroxisome biogenesis disorder 5a 11.1
48 peroxisome biogenesis disorder 6a 11.1
49 peroxisome biogenesis disorder 7a 11.1
50 peroxisome biogenesis disorder 8a 11.1

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 58)
# 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%) HP:0001288
3 abnormality of metabolism/homeostasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001939
4 attention deficit hyperactivity disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007018
5 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
6 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
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%) 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%) 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 impotence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000802
27 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
28 paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003470
29 paraparesis 58 31 Very frequent (99-80%) HP:0002385
30 incoordination 58 31 Very frequent (99-80%) HP:0002311
31 hearing impairment 31 HP:0000365
32 behavioral abnormality 58 Very frequent (99-80%)
33 visual impairment 58 Very frequent (99-80%)
34 blindness 31 HP:0000618
35 cognitive impairment 58 Very frequent (99-80%)
36 slurred speech 31 HP:0001350
37 bowel incontinence 31 HP:0002607
38 alopecia 31 HP:0001596
39 abnormality of vision 58 Very frequent (99-80%)
40 psychosis 31 HP:0000709
41 primary adrenal insufficiency 31 HP:0008207
42 spastic paraplegia 31 HP:0001258
43 hypogonadism 31 HP:0000135
44 polyneuropathy 31 HP:0001271
45 hyperactivity 58 Very frequent (99-80%)
46 abnormality of the cerebral white matter 31 HP:0002500
47 loss of speech 31 HP:0002371
48 urinary incontinence 31 HP:0000020
49 hyperpigmentation of the skin 31 HP:0000953
50 limb ataxia 31 HP:0002070

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Adrenoleukodystrophy:


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

GenomeRNAi Phenotypes related to Adrenoleukodystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.58 PPARA
2 Decreased viability GR00221-A-2 9.58 PPARA
3 Decreased viability GR00221-A-3 9.58 PPARA
4 Decreased viability GR00221-A-4 9.58 PPARA
5 Decreased viability GR00240-S-1 9.58 PEX26
6 Decreased viability GR00249-S 9.58 ACOX1 SLC25A17
7 Decreased viability GR00301-A 9.58 PPARA
8 Decreased viability GR00381-A-1 9.58 PPARA
9 Decreased viability GR00386-A-1 9.58 MOG PEX19 PEX26 SLC25A17 SLC27A2
10 Decreased viability GR00402-S-2 9.58 ABCD1 ABCD3 PEX10 PEX26

MGI Mouse Phenotypes related to Adrenoleukodystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.9 ABCB6 ABCD3 CAT EHHADH HSD17B4 MOG
2 homeostasis/metabolism MP:0005376 9.77 ABCB6 ABCD1 ABCD2 ABCD3 ACOX1 CAT
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 297)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
2
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
3
Ambrisentan Approved, Investigational Phase 4 177036-94-1 6918493
4
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
5
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
6 Vaccines Phase 4
7 Antihypertensive Agents Phase 4
8 Phosphodiesterase Inhibitors Phase 4
9 Phosphodiesterase 5 Inhibitors Phase 4
10 Vasodilator Agents Phase 4
11 Endothelin Receptor Antagonists Phase 4
12 Antiparasitic Agents Phase 4
13 Antiprotozoal Agents Phase 4
14 Analgesics Phase 4
15 Analgesics, Non-Narcotic Phase 4
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4
17 Fibrinolytic Agents Phase 4
18 Cyclooxygenase Inhibitors Phase 4
19 Antipyretics Phase 4
20
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
21
Methocarbamol Approved, Vet_approved Phase 3 532-03-6 4107
22
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
23
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
24
Lactulose Approved Phase 3 4618-18-2 11333
25
Nintedanib Approved Phase 3 656247-17-5 56843413
26
Sodium citrate Approved, Investigational Phase 3 68-04-2
27
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
28
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
29
Pirfenidone Approved, Investigational Phase 3 53179-13-8 40632
30
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
31
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
32
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
33 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
34
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
35
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
36 Brodalumab Approved, Investigational Phase 3 1174395-19-7
37
Mesna Approved, Investigational Phase 3 3375-50-6 598
38
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
39
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
40
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
41
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
42
Nitrous oxide Approved, Vet_approved Phase 3 10024-97-2 948
43
Prilocaine Approved Phase 3 721-50-6 4906
44
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
45
Macitentan Approved Phase 3 441798-33-0
46
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
47
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
48
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
49
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
50
Betaine Approved, Nutraceutical Phase 3 107-43-7 247

Interventional clinical trials:

(show top 50) (show all 433)
# Name Status NCT ID Phase Drugs
1 Randomized Controlled Trial to Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis Unknown status NCT03053739 Phase 4 Sildenafil 20mg and Bosentan 62.5mg;Sildenafil 20mg and Placebo
2 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
3 Safety and Efficacy of Vaccination Against Influenza in Patients With Scleroderma Unknown status NCT01002508 Phase 4
4 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan: A Prospective Single Center, Open Label, Pilot Study Completed NCT01051960 Phase 4 Ambrisentan
5 Effects of Bosentan in a Homogenous Population of Systemic Sclerosis Subjects With a Predefined Restriction of Blood Flow in the Hands Completed NCT01395732 Phase 4 Bosentan
6 Efectividad de Saccharomyces Oulardii Para Reducir Los síntomas Gastrointestinales y Evitar el Sobrecrecimiento Bacteriano en Esclerosis sistémica Completed NCT03692299 Phase 4 Saccharomyces Boulardii Oral Tablet;Metronidazole
7 The Clinical Efficacy And Subclinical Effects on Arterial STIFFNESS of Bosentan Therapy Added to Usual Care in Patients With Systemic Sclerosis With Digital Ulcers Completed NCT02480335 Phase 4 bosentan
8 A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis Completed NCT01042158 Phase 4 tadalafil and ambrisentan upfront combination therapy
9 Evaluation of Effectiveness of Acetylsalicylic Acid on Markers of Vascular Dysfunction in Patients With Systemic Sclerosis Recruiting NCT03558854 Phase 4 Acetylsalicylic acid;Placebo oral capsule
10 A Phase IV, Single-arm, Open-label Clinical Trial to Evaluate the Efficacy and Safety of PLACENTEX ® Polydeoxyribonucleotide i.m. in Patients With Fibrotic and Atrophic Cutaneous Lesions in Scleroderma Diseases Active, not recruiting NCT03388255 Phase 4 Polydeoxyribonucleotides
11 A Prospective Study of the Utility of Intraoperative, Quantitative Indocyanine Green Angiography in Microvascular Surgery for Systemic Scerlosis Withdrawn NCT03155464 Phase 4 Indocyanine Green
12 Probiotics in Patients With Moderate-to-severe Distention/ Bloating From Systemic Sclerosis Withdrawn NCT01497743 Phase 4 Lactobacillus
13 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
14 Evaluation of Serial Night Time Position Splint on Range of Motion for Patients With Systemic Sclerosis Unknown status NCT01586663 Phase 3 Drug treatment
15 A Randomized, Double-blinded, Placebo Controlled Study to Evaluate Clinical Efficacy and Safety of Pirfenidone for Skin Fibrosis in Systemic Sclerosis Unknown status NCT03068234 Phase 2, Phase 3 Pirfenidone;Placebo oral capsule;Steroids
16 Effects of Probiotics on Gastrointestinal Symptoms and on the Immune System in Patients With Systemic Sclerosis: a Randomized Double-blind Placebo-controlled Clinical Trial Unknown status NCT02302352 Phase 3
17 Rare Disease With Microvascular Involvement: High Dose Intravenous N-Acetylcysteine Versus Iloprost for Early, Rapidly Progressive Diffuse Systemic Sclerosis Unknown status NCT00428883 Phase 2, Phase 3 N-acetylcysteine (NAC)
18 Platelet Gel for Digital Ulcers in Patients With SSc: a Randomized Controlled Trial Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
19 A Study of a Topical Formulation of Nitroglycerin, MQX-503, and Matching Vehicle in the Treatment and Prevention of Raynaud's Phenomenon Unknown status NCT00577304 Phase 3 Nitroglycerin;Topical AmphiMatrix
20 MD1003 in Adrenomyeloneuropathy : a Randomized Double Blind Placebo Controlled Study Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
21 A Randomized, Double-Blind, Placebo-Controlled Trial of Recombinant Human Relaxin in the Treatment of Systemic Sclerosis With Diffuse Scleroderma Completed NCT00704665 Phase 3 Relaxin;Relaxin
22 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
23 A Phase II/III, Multicenter, Randomized, Double-blind, Placebo-controlled Study To Assess The Efficacy And Safety Of Tocilizumab Versus Placebo In Patients With Systemic Sclerosis Completed NCT01532869 Phase 3 Placebo;tocilizumab [RoActemra/Actemra];tocilizumab [RoActemra/Actemra]
24 A Phase III, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Assess the Efficacy and Safety of Tocilizumab Versus Placebo in Patients With Systemic Sclerosis Completed NCT02453256 Phase 3 Placebo;Tocilizumab
25 The Effectiveness of Domperidone Versus Alginic Acid Add on Omeprazole Therapy in Omeprazole Resistance Gastroesophageal Reflux in Systemic Sclerosis Completed NCT01878526 Phase 3 Alginic acid;placebo (for domperidone);Domperidone;placebo (of alginic acid)
26 The Effect of Rosuvastatin on Vascular Dysfunction and Inflammatory Markers in Systemic Sclerosis-related Pulmonary Hypertension: Randomized, Double-Blind Placebo-Controlled Trial Completed NCT00984932 Phase 3 Rosuvastatin
27 Intravenous Cyclophosphamide for the Treatment of Systemic Sclerosis Associated Interstitial Lung Disease Completed NCT01570764 Phase 3 Cyclophosphamide;Placebo
28 Evaluation of Rituximab in Systemic Sclerosis Associated Polyarthritis Completed NCT01748084 Phase 2, Phase 3 Rituximab;Placebo (NaCl)
29 Prospective, Randomized, Placebo-controlled, Double-blind, Multicenter, Parallel Group Study to Assess the Efficacy, Safety and Tolerability of Macitentan in Patients With Ischemic Digital Ulcers Associated With Systemic Sclerosis Completed NCT01474109 Phase 3 macitentan 3mg;macitentan 10mg;placebo
30 A Randomized Controlled Trial to Compare the Efficacy of Oral Mycophenolate Mofetil With Placebo in Patients With Systemic Sclerosis Related Early Interstitial Lung Disease Completed NCT02896205 Phase 3 Mycophenolate mofetil;Placebo
31 Long-term Open-label Study in Patients With Interstitial Lung Disease Associated With Systemic Sclerosis Who Completed the Protocol AC-052-330. Completed NCT00319033 Phase 2, Phase 3 bosentan
32 A Randomized, Double-blind, Placebo-controlled Multi-center Study of GB-0998 for Treatment of Systemic Sclerosis Completed NCT00348296 Phase 3 High-dose intravenous immunoglobulin (Venoglobulin-IH)
33 Six Month Clinical Research Study for Patients With Moderate or Severe Dry Eye Syndrome Completed NCT00025818 Phase 3 Ophthalmic Emulsion
34 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
35 A Randomized Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma: A Double Blind, Parallel Group, Multicentric Study Completed NCT01117298 Phase 3 Tadalafil;Placebo
36 A Randomized, Double-blind, Placebo-controlled, Multi-center Study to Assess the Effect of Bosentan on Healing and Prevention of Ischemic Digital Ulcers in Patients With Systemic Sclerosis Completed NCT00077584 Phase 3 Bosentan 62.5 mg;Bosentan 125 mg;Placebo
37 A Double-blind, Randomized, Placebo-controlled, Multicenter Study to Assess the Efficacy, Safety and Tolerability of Bosentan in Patients With Interstitial Lung Disease Associated With Systemic Sclerosis Completed NCT00070590 Phase 2, Phase 3 Bosentan
38 Cyclophosphamide Versus Placebo in Scleroderma Lung Study Completed NCT00004563 Phase 3 Cyclophosphamide;Placebo
39 Double-Blind, Parallel-group Comparison, Investigators Initiated Phase II Clinical Trial of IDEC-C2B8 (Rituximab) in Patients With Systemic Sclerosis Completed NCT04274257 Phase 2, Phase 3 Double-Blind Placebo;Double-Blind Rituximab
40 A Double Blind, Randomised, Placebo-controlled Trial Evaluating Efficacy and Safety of Oral Nintedanib Treatment for at Least 52 Weeks in Patients With Systemic Sclerosis Associated Interstitial Lung Disease (SSc-ILD) Completed NCT02597933 Phase 3 Nintedanib;Placebo
41 Evaluation of the Efficacy and Safety of the Imiquimod 5% Topical Cream in Plaque Morphea: A Prospective, Multiple Baseline, Open Label Pilot Study Completed NCT00147771 Phase 3 Imiquimod 5% cream
42 Effectiveness and Safety of Lidocaine for Scleroderma. Randomized Double-Blind Clinical Trial Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
43 Effect of Sildenafil on the Microcirculatory Blood Flow and on the Endothelial Progenitor Cells in Patients With Systemic Sclerosis: a Randomized, Double-blind, Placebo-controlled Clinical Trial Completed NCT01347008 Phase 3 Sildenafil citrate;Placebo (Sugar pill)
44 A Randomized, Double-Blinded, Placebo-Controlled Clinical Trial Assessing the Therapeutic Efficacy of Botulinum Toxin In Treating Scleroderma-Associated Raynaud's Syndrome Completed NCT02165111 Phase 3 Onabotulinumtoxin A;sterile saline solution
45 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
46 A Randomized, Open-Label, Phase II Multicenter Study of High-Dose Immunosuppressive Therapy Using Total Body Irradiation, Cyclophosphamide, ATGAM, and Autologous Transplantation With Auto-CD34+HPC Versus Intravenous Pulse Cyclophosphamide for the Treatment of Severe Systemic Sclerosis (SCSSc-01) Completed NCT00114530 Phase 2, Phase 3 cyclophosphamide
47 Efficacy, Tolerability and Biology of a Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
48 Randomised Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT00626665 Phase 3 Tadalafil
49 Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism." This Study Was Previously Registered by the NCRR and Identified as NCRR-M01RR08084-0009 Completed NCT00007020 Phase 3 Cholic Acids
50 High Dose Cyclophosphamide for Treatment of Systemic Sclerosis (Scleroderma) Completed NCT00501995 Phase 3 IV Cyclophosphamide

Search NIH Clinical Center for Adrenoleukodystrophy

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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
Skin, Brain, Lung, Cortex, Adrenal Cortex, Adrenal Gland, Testes

Publications for Adrenoleukodystrophy

Articles related to Adrenoleukodystrophy:

(show top 50) (show all 2028)
# Title Authors PMID Year
1
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. 61 54 6 24
11748843 2001
2
Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. 24 56 61 54
10190819 1999
3
A Japanese family with adrenoleukodystrophy with a codon 291 deletion: a clinical, biochemical, pathological, and genetic report. 6 56 61
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 56 6
7811247 1994
5
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). 61 6 56
7849723 1994
6
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. 61 6 56
7904210 1993
7
Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. 24 56 61
16009761 2005
8
Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening. 24 61 56
15812458 2005
9
Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. 61 24 56
15073029 2004
10
Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion. 61 24 56
12210797 2002
11
Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. 24 56 61
11310629 2001
12
Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. 61 56 24
11085690 2000
13
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. 24 61 56
9894883 1999
14
The prenatal diagnosis of X-linked adrenoleukodystrophy. 24 61 56
10073906 1999
15
Identification of a new frameshift mutation (1801delAG) in the ALD gene. 6 56
7849718 1994
16
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. 56 54 61
19892975 2009
17
Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy. 54 56 61
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. 6 54 61
15811009 2005
19
Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy. 61 56 54
12509471 2003
20
ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN. 61 6 54
11739809 2001
21
Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy. 56 54 61
11063720 2000
22
X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds. 56 61 54
9556303 1998
23
A mouse model for X-linked adrenoleukodystrophy. 56 54 61
9256488 1997
24
Mutations in the adrenoleukodystrophy gene. 61 54 56
9195223 1997
25
Carrier identification of X-linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation. 61 54 56
9007322 1996
26
Adrenoleukodystrophy gene encodes an 80 kDa membrane protein. 61 54 56
8002973 1994
27
Clinical utility gene card for: adrenoleukodystrophy. 6 61
22071894 2012
28
Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations. 61 6
21300044 2011
29
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan. 61 6
21068741 2011
30
The burden of inherited leukodystrophies in children. 56 61
20660364 2010
31
Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. 56 61
20179078 2010
32
Lovastatin in X-linked adrenoleukodystrophy. 56 61
20089986 2010
33
Insulin-like growth factor-1 and neurotrophin-3 gene therapy prevents motor decline in an X-linked adrenoleukodystrophy mouse model. 61 56
19670442 2009
34
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. 24 54 61
18757502 2008
35
Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy? 56 61
18571777 2008
36
Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy. 56 61
18344354 2008
37
Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture. 56 61
18344355 2008
38
Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. 56 61
17502464 2007
39
Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy. 61 56
17353371 2007
40
Phenotypes of female adrenoleukodystrophy. 56 61
17372139 2007
41
[Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy]. 6 61
17504626 2007
42
Adrenoleukodystrophy: new approaches to a neurodegenerative disease. 61 56
16380594 2005
43
ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy. 24 54 61
16087056 2005
44
Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency. 56 61
15772093 2005
45
Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy. 61 56
15489218 2004
46
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. 24 54 61
11992258 2002
47
Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. 56 61
11875044 2002
48
Decreasing serum VLCFA levels in ageing X-ALD female carriers. 61 56
11916318 2001
49
Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP. 6 61
11810273 2001
50
Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes. 56 61
11558805 2001

Variations for Adrenoleukodystrophy

ClinVar genetic disease variations for Adrenoleukodystrophy:

6 (show top 50) (show all 335) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCD1 NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile)SNV Pathogenic 419446 rs1064793877 X:153008704-153008704 X:153743250-153743250
2 ABCD1 NM_000033.4(ABCD1):c.311G>A (p.Arg104His)SNV Pathogenic 458642 rs1557052302 X:152991032-152991032 X:153725577-153725577
3 ABCD1 NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)SNV Pathogenic 458635 rs1557054873 X:153006165-153006165 X:153740711-153740711
4 ABCD1 NM_000033.4(ABCD1):c.766_769dup (p.Val257fs)duplication Pathogenic 458649 rs1557052530 X:152991486-152991487 X:153726031-153726032
5 ABCD1 NM_000033.4(ABCD1):c.70del (p.Leu24fs)deletion Pathogenic 458648 rs1557052171 X:152990789-152990789 X:153725334-153725334
6 ABCD1 NM_000033.4(ABCD1):c.1780+2T>GSNV Pathogenic 458636 rs1557054875 X:153006175-153006175 X:153740721-153740721
7 ABCD1 NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)SNV Pathogenic 458641 rs1557052294 X:152991014-152991014 X:153725559-153725559
8 ABCD1 NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)SNV Pathogenic 458646 rs1557052390 X:152991242-152991242 X:153725787-153725787
9 ABCD1 NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs)duplication Pathogenic 458647 rs1557052397 X:152991256-152991257 X:153725801-153725802
10 ABCD1 NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter)SNV Pathogenic 458629 rs1557054210 X:153001844-153001844 X:153736390-153736390
11 ABCD1 NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter)SNV Pathogenic 458639 rs1170974058 X:153008949-153008949 X:153743495-153743495
12 ABCD1 NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)SNV Pathogenic 488393 rs727503786 X:153001685-153001685 X:153736231-153736231
13 ABCD1 NC_000023.10:g.(?_153008421)_(153009209_?)deldeletion Pathogenic 528353 X:153008421-153009209
14 ABCD1 NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs)indel Pathogenic 528340 rs1557052133 X:152990737-152990743 X:153725282-153725288
15 ABCD1 NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr)SNV Pathogenic 528344 rs1557054745 X:153005589-153005589 X:153740135-153740135
16 ABCD1 NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)SNV Pathogenic 528341 rs1557054776 X:153005685-153005685 X:153740231-153740231
17 ABCD1 NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe)SNV Pathogenic 528338 rs1159943880 X:153005624-153005624 X:153740170-153740170
18 ABCD1 NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly)SNV Pathogenic 528337 rs128624224 X:153005609-153005609 X:153740155-153740155
19 ABCD1 NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)deletion Pathogenic 528339 rs1557055253 X:153008478-153008481 X:153743024-153743027
20 ABCD1 NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)SNV Pathogenic 577418 rs1569540693 X:152991175-152991175 X:153725720-153725720
21 ABCD1 NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)SNV Pathogenic 570327 rs782266592 X:153001610-153001610 X:153736156-153736156
22 ABCD1 NM_000033.4(ABCD1):c.146_159del (p.Pro49fs)deletion Pathogenic 566603 rs1569540676 X:152990866-152990879 X:153725411-153725424
23 ABCD1 NM_000033.4(ABCD1):c.1660dup (p.Arg554fs)duplication Pathogenic 576680 rs1569541115 X:153006052-153006053 X:153740598-153740599
24 ABCD1 NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter)SNV Pathogenic 585300 rs1569541000 X:153001580-153001580 X:153736126-153736126
25 ABCD1 NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)SNV Pathogenic 585301 rs1569541088 X:153005591-153005591 X:153740137-153740137
26 ABCD1 NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)SNV Pathogenic 585302 rs1569541203 X:153008787-153008787 X:153743333-153743333
27 ABCD1 NM_000033.4(ABCD1):c.1225-7_1239deldeletion Pathogenic 619288 rs1569541009 X:153001790-153001811 X:153736336-153736357
28 ABCD1 , BCAP31 , PLXNB3 GRCh37/hg19 Xq28(chrX:152980470-153032459)copy number loss Pathogenic 625802 X:152980470-153032459
29 ABCD1 NM_000033.4(ABCD1):c.1628del (p.Pro543fs)deletion Pathogenic 635562 X:153005683-153005683 X:153740229-153740229
30 ABCD1 NM_000033.4(ABCD1):c.36del (p.Asn13fs)deletion Pathogenic 656433 X:152990753-152990753 X:153725298-153725298
31 ABCD1 NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup)duplication Pathogenic 656053 X:152990950-152990951 X:153725495-153725496
32 ABCD1 NM_000033.4(ABCD1):c.408del (p.Gln136fs)deletion Pathogenic 657046 X:152991129-152991129 X:153725674-153725674
33 ABCD1 NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)SNV Pathogenic 665836 X:152991067-152991067 X:153725612-153725612
34 ABCD1 NM_000033.4(ABCD1):c.723del (p.Trp242fs)deletion Pathogenic 642462 X:152991443-152991443 X:153725988-153725988
35 ABCD1 NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)SNV Pathogenic 651649 X:152994705-152994705 X:153729250-153729250
36 ABCD1 NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs)duplication Pathogenic 640330 X:153001584-153001585 X:153736130-153736131
37 ABCD1 NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)SNV Pathogenic 656786 X:153002671-153002671 X:153737217-153737217
38 ABCD1 NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)SNV Pathogenic 642905 X:153008444-153008444 X:153742990-153742990
39 ABCD1 NC_000023.11:g.(?_153742977)_(153743745_?)deldeletion Pathogenic 665037 X:153008431-153009199 X:153742977-153743745
40 ABCD1 NC_000023.11:g.(?_153743201)_(153743755_?)deldeletion Pathogenic 656289 X:153008655-153009209 X:153743201-153743755
41 subset of 45 genes: ABCD1 , AVPR2 , DKC1 , F8 , FLNA , GDI1 , IKBKG , L1CAM , MECP2 , SLC6A8 NC_000023.10:g.(?_152954020)_(154096327_?)deldeletion Pathogenic 658992 X:152954020-154096327
42 ABCD1 NC_000023.10:g.(?_152959340)_(153009209_?)deldeletion Pathogenic 650697 X:152959340-153009209
43 ABCD1 NC_000023.11:g.(?_153740082)_(153740247_?)deldeletion Pathogenic 645884 X:153005536-153005701 X:153740082-153740247
44 ABCD1 NM_000033.4(ABCD1):c.1635-1G>ASNV Pathogenic 689439 X:153006027-153006027 X:153740573-153740573
45 ABCD1 NM_000033.4(ABCD1):c.1219A>T (p.Lys407Ter)SNV Pathogenic 693988 X:153001703-153001703 X:153736249-153736249
46 ABCD1 NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)SNV Pathogenic 804104 X:152991062-152991062 X:153725607-153725607
47 ABCD1 NM_000033.4(ABCD1):c.1853del (p.Met618fs)deletion Pathogenic 804110 X:153008513-153008513 X:153743059-153743059
48 ABCD1 NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter)SNV Pathogenic 804111 X:153008949-153008949 X:153743495-153743495
49 ABCD1 NC_000023.11:g.(?_153736092)_(153743755_?)deldeletion Pathogenic 832309 X:153001546-153009209
50 ABCD1 NC_000023.11:g.(?_153736102)_(153743735_?)deldeletion Pathogenic 830672 X:153001556-153009189

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
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 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
12.19 SLC27A2 HSD17B4 EHHADH ACOX1
2
Show member pathways
11.57 HSD17B4 ACOX1 ABCD1
3 11.45 SLC27A2 SLC25A17 PEX6 PEX5 PEX26 PEX19
4 11.44 SLC27A2 PPARA EHHADH ACOX1
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 10.28 SLC27A2 SLC25A17 PEX6 PEX5 PEX26 PEX19
2 cytosol GO:0005829 10.21 SLC27A2 PEX6 PEX5 PEX19 PEX1 HSD17B4
3 peroxisomal membrane GO:0005778 9.83 SLC27A2 SLC25A17 PEX6 PEX5 PEX26 PEX19
4 integral component of peroxisomal membrane GO:0005779 9.56 SLC27A2 SLC25A17 PEX26 ABCD1
5 peroxisomal matrix GO:0005782 9.55 HSD17B4 EHHADH CAT ACOX1 ABCD3
6 peroxisome GO:0005777 9.53 SLC27A2 SLC25A17 PEX6 PEX5 PEX26 PEX19
7 ATP-binding cassette (ABC) transporter complex GO:0043190 9.4 ABCD4 ABCB6

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.07 SLC25A17 PEX19 ABCD4 ABCD3 ABCD2 ABCD1
2 lipid metabolic process GO:0006629 9.98 SLC27A2 PPARA HSD17B4 EHHADH ACOX1
3 fatty acid metabolic process GO:0006631 9.91 SLC27A2 PPARA HSD17B4 EHHADH ACOX1
4 very long-chain fatty acid metabolic process GO:0000038 9.73 SLC27A2 PEX5 HSD17B4 ACOX1 ABCD2 ABCD1
5 protein import into peroxisome matrix GO:0016558 9.72 PEX6 PEX5 PEX26 PEX10 PEX1
6 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.71 HSD17B4 EHHADH ACOX1 ABCD1
7 peroxisome organization GO:0007031 9.7 PEX6 PEX5 PEX19 PEX10 PEX1 ABCD3
8 fatty acid transport GO:0015908 9.67 SLC27A2 SLC25A17 PPARA
9 very long-chain fatty acid catabolic process GO:0042760 9.67 SLC27A2 ABCD3 ABCD2 ABCD1
10 alpha-linolenic acid metabolic process GO:0036109 9.65 HSD17B4 ACOX1 ABCD1
11 positive regulation of fatty acid beta-oxidation GO:0032000 9.63 PPARA ABCD2 ABCD1
12 protein import into peroxisome membrane GO:0045046 9.61 PEX5 PEX26 PEX19
13 fatty acid beta-oxidation GO:0006635 9.61 SLC27A2 SLC25A17 PEX5 HSD17B4 EHHADH ACOX1
14 bile acid biosynthetic process GO:0006699 9.6 SLC27A2 HSD17B4
15 negative regulation of reactive oxygen species biosynthetic process GO:1903427 9.59 ABCD2 ABCD1
16 neuron projection maintenance GO:1990535 9.58 ABCD2 ABCD1
17 fatty acid alpha-oxidation GO:0001561 9.57 SLC27A2 SLC25A17
18 myelin maintenance GO:0043217 9.56 ABCD2 ABCD1
19 positive regulation of unsaturated fatty acid biosynthetic process GO:2001280 9.55 ABCD2 ABCD1
20 peroxisomal long-chain fatty acid import GO:0015910 9.54 ABCD3 ABCD1
21 protein targeting to peroxisome GO:0006625 9.36 SLC27A2 PEX6 PEX5 PEX26 PEX19 PEX10

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.11 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 9.95 HSD17B4 CAT ABCD3 ABCD2 ABCD1
4 protein-containing complex binding GO:0044877 9.85 PPARA PEX6 PEX26 PEX1 BCAP31
5 enzyme binding GO:0019899 9.83 SLC27A2 PEX5 EHHADH CAT ABCD1
6 protein N-terminus binding GO:0047485 9.7 PEX5 PEX19 ACOX1
7 ATPase activity, coupled GO:0042623 9.54 PEX6 PEX1
8 enoyl-CoA hydratase activity GO:0004300 9.49 HSD17B4 EHHADH
9 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.48 HSD17B4 EHHADH
10 peroxisome targeting sequence binding GO:0000268 9.37 PEX5 CAT
11 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.35 ABCD4 ABCD3 ABCD2 ABCD1 ABCB6
12 long-chain fatty acid transporter activity GO:0005324 9.33 SLC27A2 ABCD3 ABCD1
13 long-chain-enoyl-CoA hydratase activity GO:0016508 9.32 HSD17B4 EHHADH
14 peroxisome membrane targeting sequence binding GO:0033328 9.26 PEX5 PEX19
15 ATPase activity GO:0016887 9.17 PEX6 PEX1 ABCD4 ABCD3 ABCD2 ABCD1

Sources for Adrenoleukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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