ALD
MCID: ADR007
MIFTS: 72

Adrenoleukodystrophy (ALD) malady

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

Aliases & Classifications for Adrenoleukodystrophy

Aliases & Descriptions for Adrenoleukodystrophy:

Name: Adrenoleukodystrophy 54 38 12 71 50 51 66 29 13 52 42 14 69
X-Linked Adrenoleukodystrophy 12 23 50 24 25 56
X-Ald 23 50 24 25 56
Ald 12 50 56 66
Siemerling-Creutzfeldt Disease 12 25 66
Adrenomyeloneuropathy 56 66 69
Diffuse Cerebral Sclerosis of Schilder 12 69
Addison Disease and Cerebral Sclerosis 25 66
Melanodermic Leukodystrophy 25 66
Bronze Schilder Disease 12 66
Schilder's Disease 12 51
Diffuse Sclerosis 12 51
Schilder Disease 12 25
X-Linked Cerebral Adrenoleukodystrophy 56
Encephalitis Periaxialis Concentrica 12
Encephalitis Periaxialis, Schilder's 12
Sudanophilic Cerebral Sclerosis 12
Adrenoleukodystrophy, X-Linked 24
Adrenomyeloneuropathy, Adult 54
Balo's Concentric Sclerosis 69
Schilder-Addison Complex 25
Systemic Scleroderma 69
X-Linked Ald 56
Amn 66

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
adrenoleukodystrophy:
Onset and clinical course progressive
Inheritance x-linked recessive inheritance


GeneReviews:

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

Classifications:



External Ids:

OMIM 54 300100
Disease Ontology 12 DOID:10588
ICD9CM 35 341.1
ICD10 via Orphanet 34 E71.3
UMLS via Orphanet 70 C0162309 C1527231
MESH via Orphanet 43 D000326

Summaries for Adrenoleukodystrophy

NINDS : 51 X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the  that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. Women have two X chromosomes and are the carriers of the disease, but since men only have one X chromosome and lack the protective effect of the extra X chromosome, they are more severely affected.  People with X-ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of X-ALD. While nearly all patients with X-ALD suffer from adrenal insufficiency, also known as Addison's disease, the neurological symptoms can begin either in childhood or in adulthood. The childhood cerebral form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia. The milder adult-onset form is also known as adrenomyeloneuropathy (AMN) which typically begins between ages 21 and 35.  Symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. Almost half the women who are carriers of X-ALS will develop a milder form of AMN but almost never will develop symptoms seen in boys the X-ALD.  X-ALD should not be confused with neonatal adrenoleukodsystrophy, which is a disease of newborns and young infants and belongs to the group of peroxisomal biogenesis disorders.

MalaCards based summary : Adrenoleukodystrophy, also known as x-linked adrenoleukodystrophy, is related to neonatal adrenoleukodystrophy and childhood-onset cerebral x-linked adrenoleukodystrophy, and has symptoms including paraparesis, attention deficit hyperactivity disorder and urinary bladder sphincter dysfunction. An important gene associated with Adrenoleukodystrophy is ABCD1 (ATP Binding Cassette Subfamily D Member 1), and among its related pathways/superpathways are Peroxisome and PPAR signaling pathway. The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and adrenal gland, and related phenotype is homeostasis/metabolism.

NIH Rare Diseases : 50 x-linked adrenoleukodystrophy (x-ald) is an inherited condition that occurs mostly in males.  the condition mainly affects the nervous system and the adrenal glands (small glands located on top of each kidney). people with this disorder often have progressive destruction of the fatty covering (myelin) that insulates nerves in the brain and spinal cord. they may also have a shortage of certain hormones caused by damage to the outer layer of the adrenal glands (adrenal cortex), called adrenocortical insufficiency.  x-ald is caused by mutations in the abcd1 gene. these gene mutations cause a shortage (deficiency) of a protein called adrenoleukodystrophy protein (aldp).  a deficiency of this protein leads to an abnormally high level of fat molecules called very long-chain fatty acids (vlcfa) to build up in the body.  high levels of vlcfa may be toxic to the adrenal cortex and myelin.  there are several forms of x-ald including: a childhood cerebral form, an adrenomyeloneuropathy (amn) type, and an adrenal insufficiency-only type. another form of ald is occasionally seen in women who are carriers of the condition a specific treatment for x-ald is not currently available, but eating a diet low in vlcfa and taking special oils can lower the blood levels of vlcfa. bone marrow transplantation (bmt) may be an option for boys and adolescents in early stages who have evidence of brain involvement on mri.  adrenocortical insufficiency is treated with cortisone replacement. last updated: 8/6/2013

UniProtKB/Swiss-Prot : 66 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.

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.

OMIM : 54 Adrenoleukodystrophy is an X-linked disorder which is secondary to a mutation in the ABCD1 gene and results in the... (300100) more...

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.

Wikipedia : 71 Adrenoleukodystrophy (/-ˌlu-koʊ-ˈdis-trə-fiː/; also known as X-linked adrenoleukodystrophy, ALD,... 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 108)
id Related Disease Score Top Affiliating Genes
1 neonatal adrenoleukodystrophy 12.3
2 childhood-onset cerebral x-linked adrenoleukodystrophy 12.0
3 peroxisomal acyl-coa oxidase deficiency 11.7
4 adrenomyeloneuropathy 11.7
5 peroxisome biogenesis disorder 1b 11.4
6 mitochondrial dna depletion syndrome 4a 11.3
7 tumefactive multiple sclerosis 11.3
8 balo concentric sclerosis 11.3
9 pelizaeus-merzbacher disease 11.2
10 leukodystrophy 11.1
11 zellweger syndrome 11.0
12 spasticity 11.0
13 peroxisome biogenesis disorder 1a 10.9
14 peroxisome biogenesis disorder 11b 10.8
15 peroxisome biogenesis disorder 2b 10.8
16 d-bifunctional protein deficiency 10.8
17 peroxisome biogenesis disorder 3b 10.8
18 peroxisome biogenesis disorders, zellweger syndrome spectrum 10.8
19 peroxisome biogenesis disorder 4b 10.8
20 peroxisome biogenesis disorder 7b 10.8
21 peroxisome biogenesis disorder 6b 10.8
22 peroxisome biogenesis disorder 5b 10.8
23 peroxisome biogenesis disorder 11a 10.6
24 peroxisome biogenesis disorder 8a, 10.6
25 peroxisome biogenesis disorder 8b 10.6
26 peroxisome biogenesis disorder 2a 10.6
27 peroxisome biogenesis disorder 3a 10.6
28 peroxisome biogenesis disorder 4a 10.6
29 peroxisome biogenesis disorder 9b 10.6
30 peroxisome biogenesis disorder 7a 10.6
31 peroxisome biogenesis disorder 6a 10.6
32 peroxisome biogenesis disorder 10a 10.6
33 peroxisome biogenesis disorder 13a 10.6
34 peroxisome biogenesis disorder 5a 10.6
35 sudanophilic cerebral sclerosis 10.6
36 peroxisome biogenesis disorder 12a 10.6
37 myelinoclastic diffuse sclerosis 10.6
38 cerebritis 10.5
39 chronic polyradiculoneuritis 10.1 ABCD1 BCAP31
40 short-rib thoracic dysplasia 13 with or without polydactyly 10.1 ACOX1 EHHADH
41 spinocerebellar ataxia, x-linked 1 10.1 ABCD1 BCAP31
42 addison's disease 10.1
43 glottis neoplasm 10.1 PEX26 PEX5
44 growth hormone deficiency, isolated, type ii 10.0 PEX1 PEX5
45 parapsoriasis 10.0 ABCD1 ABCD3 PEX5
46 hematopoietic stem cell transplantation 10.0
47 peroxisomal disease 9.9
48 mental retardation, autosomal recessive 44 9.9 ACOX1 CAT PEX5
49 brachyolmia 9.9 ABCB6 ABCD3
50 spinocerebellar degeneration 9.9

Graphical network of the top 20 diseases related to Adrenoleukodystrophy:



Diseases related to Adrenoleukodystrophy

Symptoms & Phenotypes for Adrenoleukodystrophy

Symptoms by clinical synopsis from OMIM:

300100

Clinical features from OMIM:

300100

Human phenotypes related to Adrenoleukodystrophy:

56 32 (show top 50) (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 paraparesis 56 32 Very frequent (99-80%) HP:0002385
2 attention deficit hyperactivity disorder 56 32 Very frequent (99-80%) HP:0007018
3 urinary bladder sphincter dysfunction 56 32 Frequent (79-30%) HP:0002839
4 visual loss 56 32 Very frequent (99-80%) HP:0000572
5 dementia 56 32 Very frequent (99-80%) HP:0000726
6 impotence 56 32 Occasional (29-5%) HP:0000802
7 incoordination 56 32 Very frequent (99-80%) HP:0002311
8 headache 56 Very frequent (99-80%)
9 seizures 32 HP:0001250
10 clumsiness 56 Very frequent (99-80%)
11 hemiparesis 56 Frequent (79-30%)
12 diplopia 56 Occasional (29-5%)
13 intellectual disability 56 Very frequent (99-80%)
14 gait disturbance 56 Very frequent (99-80%)
15 bowel incontinence 32 HP:0002607
16 hearing impairment 32 HP:0000365
17 behavioral abnormality 56 Very frequent (99-80%)
18 increased intracranial pressure 56 Frequent (79-30%)
19 visual impairment 56 Very frequent (99-80%)
20 blindness 32 HP:0000618
21 cognitive impairment 56 Very frequent (99-80%)
22 abnormality of vision 56 Very frequent (99-80%)
23 abnormality of metabolism/homeostasis 56 Very frequent (99-80%)
24 slurred speech 32 HP:0001350
25 limb ataxia 32 HP:0002070
26 abnormality of the skeletal system 32 HP:0000924
27 visual field defect 56 Frequent (79-30%)
28 aphasia 56 Frequent (79-30%)
29 primary adrenal insufficiency 32 HP:0008207
30 hypogonadism 32 HP:0000135
31 psychosis 32 HP:0000709
32 neurodegeneration 32 HP:0002180
33 paralysis 56 Occasional (29-5%)
34 specific learning disability 56 Very frequent (99-80%)
35 aggressive behavior 56 Frequent (79-30%)
36 spastic paraplegia 32 HP:0001258
37 hyperactivity 56 Very frequent (99-80%)
38 increased circulating acth level 56 Frequent (79-30%)
39 polyneuropathy 32 HP:0001271
40 bulbar palsy 32 HP:0001283
41 progressive hearing impairment 56 Very frequent (99-80%)
42 sensory impairment 56 Very frequent (99-80%)
43 functional motor problems 56 Very frequent (99-80%)
44 progressive spastic paraparesis 56 Very frequent (99-80%)
45 leg muscle stiffness 56 Very frequent (99-80%)
46 neurogenic bladder 56 Frequent (79-30%)
47 disinhibition 56 Frequent (79-30%)
48 adrenal insufficiency 56 Frequent (79-30%)
49 inappropriate sexual behavior 56 Frequent (79-30%)
50 abnormality of adrenal physiology 56 Frequent (79-30%)

UMLS symptoms related to Adrenoleukodystrophy:


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

MGI Mouse Phenotypes related to Adrenoleukodystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 ABCB6 ABCD1 ABCD2 ABCD3 ACOX1 CAT

Drugs & Therapeutics for Adrenoleukodystrophy

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

(show top 50) (show all 103)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 3,Phase 2 50-24-8 5755
3
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
5
Glycerol Approved, Experimental Phase 2, Phase 3 56-81-5 753
6
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
8
Biotin Approved, Nutraceutical Phase 2, Phase 3 58-85-5 171548
9 Antiemetics Phase 3
10 Anti-Inflammatory Agents Phase 3
11 Autonomic Agents Phase 3
12 Gastrointestinal Agents Phase 3
13 glucocorticoids Phase 3
14 Hormone Antagonists Phase 3
15 Hormones Phase 3
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
17 Methylprednisolone acetate Phase 3,Phase 2
18 Methylprednisolone Hemisuccinate Phase 3,Phase 2
19 Neuroprotective Agents Phase 3
20 Peripheral Nervous System Agents Phase 3
21 Prednisolone acetate Phase 3,Phase 2
22 Prednisolone hemisuccinate Phase 3,Phase 2
23 Prednisolone phosphate Phase 3,Phase 2
24 Protective Agents Phase 3,Phase 2
25 Bile Acids and Salts Phase 3
26 Cholic Acids Phase 3
27 Liver Extracts Phase 3
28 Alkylating Agents Phase 2, Phase 3
29 Antilymphocyte Serum Phase 2, Phase 3
30 Antineoplastic Agents, Alkylating Phase 2, Phase 3
31 Antirheumatic Agents Phase 2, Phase 3
32 Immunosuppressive Agents Phase 2, Phase 3
33 Antimetabolites Phase 3,Phase 2
34 Hypolipidemic Agents Phase 3
35 Lipid Regulating Agents Phase 3
36 Micronutrients Phase 2, Phase 3,Phase 1
37 Trace Elements Phase 2, Phase 3,Phase 1
38 Vitamin B Complex Phase 2, Phase 3
39 Vitamins Phase 2, Phase 3,Phase 1
40 Pharmaceutical Solutions Phase 2, Phase 3
41 Folate Nutraceutical Phase 2, Phase 3
42 Vitamin B9 Nutraceutical Phase 2, Phase 3
43 Vitamin B7 Nutraceutical Phase 2, Phase 3
44
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
45
alemtuzumab Approved, Investigational Phase 2 216503-57-0
46
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
47
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
48
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
49
Hydroxyurea Approved Phase 2 127-07-1 3657
50
Melphalan Approved Phase 2 148-82-3 4053 460612

Interventional clinical trials:

(show all 35)
id Name Status NCT ID Phase
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 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3
3 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
4 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3
5 A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT01896102 Phase 2, Phase 3
6 MD1003-AMN MD1003 in Adrenomyeloneuropathy Active, not recruiting NCT02961803 Phase 2, Phase 3
7 Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3
8 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3
9 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
10 A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants Completed NCT01495260 Phase 2
11 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2
12 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1, Phase 2
13 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
14 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
15 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
16 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2
17 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
18 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
19 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
20 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
21 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1
22 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044
23 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
24 The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060
25 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853
26 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450
27 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092
28 Newborn Screening for Adrenoleukodystrophy Recruiting NCT02952482
29 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
30 Alpers Huttenlocher Natural History Study Recruiting NCT03034512
31 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy Available NCT02233257
32 Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants Available NCT01881334
33 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
34 Early Diagnosis Of Childhood Cerebral ALD Not yet recruiting NCT02948062
35 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442

Search NIH Clinical Center for Adrenoleukodystrophy

Inferred drug relations via UMLS 69 / NDF-RT 48 :


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:

id Genetic test Affiliating Genes
1 Adrenoleukodystrophy 29
2 Adrenoleukodystrophy, X-Linked 24 ABCD1

Anatomical Context for Adrenoleukodystrophy

MalaCards organs/tissues related to Adrenoleukodystrophy:

39
Brain, Cortex, Adrenal Gland, Adrenal Cortex, Skin, Kidney, Spinal Cord

Publications for Adrenoleukodystrophy

Articles related to Adrenoleukodystrophy:

(show top 50) (show all 711)
id Title Authors Year
1
A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene. ( 28456143 )
2017
2
Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy. ( 28375456 )
2017
3
Activation of Cerebral X-linked Adrenoleukodystrophy After Head Trauma. ( 28534457 )
2017
4
Heat shock protein expression in cerebral X-linked adrenoleukodystrophy reveals astrocyte stress prior to myelin loss. ( 28319253 )
2017
5
Therapeutic strategies in adrenoleukodystrophy. ( 28493141 )
2017
6
A Thyroid Hormone-Based Strategy for Correcting the Biochemical Abnormality in X-Linked Adrenoleukodystrophy. ( 28200172 )
2017
7
Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy. ( 28418523 )
2017
8
Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy. ( 28288261 )
2017
9
Decision Making in Adrenoleukodystrophy: When Is a Good Outcome Really a Good Outcome? ( 28418445 )
2017
10
Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study. ( 28274546 )
2017
11
Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy. ( 28004277 )
2017
12
Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia. ( 28481932 )
2017
13
A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS. ( 27331004 )
2016
14
Metformin-induced mitochondrial function and ABCD2 up regulation in X-linked adrenoleukodystrophy involves AMP activated protein kinase. ( 26849413 )
2016
15
A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy. ( 26836218 )
2016
16
Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry. ( 27440509 )
2016
17
Middle cerebellar peduncle sign in adrenoleukodystrophy. ( 27147183 )
2016
18
An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree. ( 27489563 )
2016
19
Neurodegeneration in a Drosophila model of adrenoleukodystrophy: the roles of the Bubblegum and Double bubble acyl-CoA synthetases. ( 26893370 )
2016
20
A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease. ( 27248780 )
2016
21
Novel Therapeutic Targets and Drug Candidates for Modifying Disease Progression in Adrenoleukodystrophy. ( 26684655 )
2016
22
Generation of human embryonic stem cells from abnormal blastocyst diagnosed with adrenoleukodystrophy. ( 27934597 )
2016
23
Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history. ( 27312864 )
2016
24
25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome. ( 27779191 )
2016
25
Venture Philanthropy and Gene Therapy: Lessons from Adrenoleukodystrophy. ( 26784642 )
2016
26
X-linked adrenoleukodystrophy presenting with positional downbeat nystagmus. ( 27272035 )
2016
27
A case of adrenoleukodystrophy presenting with manic symptoms in a patient on steroids for Addison's disease. ( 28197008 )
2016
28
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. ( 27337030 )
2016
29
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome. ( 27991992 )
2016
30
The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family. ( 27057190 )
2016
31
C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man. ( 27124591 )
2016
32
Childhood Cerebral Adrenoleukodystrophy: MR Perfusion Measurements and Their Use in Predicting Clinical Outcome after Hematopoietic Stem Cell Transplantation. ( 27079370 )
2016
33
Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked Adrenoleukodystrophy. ( 27114847 )
2016
34
Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report. ( 26862418 )
2016
35
CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids. ( 27425035 )
2016
36
MicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy. ( 26843114 )
2016
37
A Hierarchical Bayesian Approach for Combining Pharmacokinetic/Pharmacodynamic Modeling and Phase IIa Trial Design in Orphan Drugs: Treating Adrenoleukodystrophy with Lorenzo's Oil. ( 27547896 )
2016
38
Synthetic cannabinoids revealing adrenoleukodystrophy. ( 26601810 )
2016
39
Endocrine Dysfunction in X-Linked Adrenoleukodystrophy. ( 27241966 )
2016
40
The ABCD's of 5'-adenosine monophosphate-activated protein kinase and adrenoleukodystrophy. ( 26990533 )
2016
41
Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines. ( 25724074 )
2015
42
X-linked Adrenoleukodystrophy, The Tunisian Experience. ( 26642716 )
2015
43
The Role of MR Imaging in the Assessment of Clinical Outcomes in Children with X-Linked Adrenoleukodystrophy after Allogeneic Haematopoietic Stem Cell Transplantation. ( 25908949 )
2015
44
Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy. ( 25763509 )
2015
45
Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes. ( 25920484 )
2015
46
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study. ( 25488625 )
2015
47
Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy. ( 26454440 )
2015
48
MRI in X-linked adrenoleukodystrophy. ( 25583825 )
2015
49
Oxidative Stress in Patients with X-Linked Adrenoleukodystrophy. ( 26169524 )
2015
50
A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy. ( 25967231 )
2015

Variations for Adrenoleukodystrophy

UniProtKB/Swiss-Prot genetic disease variations for Adrenoleukodystrophy:

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

ClinVar genetic disease variations for Adrenoleukodystrophy:

6 (show top 50) (show all 54)
id Gene Variation Type Significance SNP ID Assembly Location
1 ABCD1 NM_000033.3(ABCD1): c.-18_8del26 (p.Met1_Gly66del) deletion Pathogenic rs387906497 GRCh37 Chromosome X, 152990704: 152990729
2 ABCD1 NM_000033.3(ABCD1): c.871G> A (p.Glu291Lys) single nucleotide variant Pathogenic rs128624213 GRCh37 Chromosome X, 152991592: 152991592
3 ABCD1 NM_000033.3(ABCD1): c.1451C> G (p.Pro484Arg) single nucleotide variant Pathogenic rs128624214 GRCh37 Chromosome X, 153002668: 153002668
4 ABCD1 ABCD1, IVS6AS, A-G, -2 single nucleotide variant Pathogenic
5 ABCD1 ABCD1, IVS8AS, G-A, -10, 8-BP INS insertion Pathogenic
6 ABCD1 NM_000033.3(ABCD1): c.1165C> G (p.Arg389Gly) single nucleotide variant Pathogenic rs128624215 GRCh37 Chromosome X, 153001649: 153001649
7 ABCD1 NM_000033.3(ABCD1): c.443A> G (p.Asn148Ser) single nucleotide variant Pathogenic rs128624216 GRCh37 Chromosome X, 152991164: 152991164
8 ABCD1 NM_000033.3(ABCD1): c.520T> G (p.Tyr174Asp) single nucleotide variant Pathogenic rs128624217 GRCh37 Chromosome X, 152991241: 152991241
9 ABCD1 NM_000033.3(ABCD1): c.796G> A (p.Gly266Arg) single nucleotide variant Pathogenic rs128624218 GRCh37 Chromosome X, 152991517: 152991517
10 ABCD1 NM_000033.3(ABCD1): c.1202G> A (p.Arg401Gln) single nucleotide variant Pathogenic rs128624219 GRCh37 Chromosome X, 153001686: 153001686
11 ABCD1 NM_000033.3(ABCD1): c.1252C> T (p.Arg418Trp) single nucleotide variant Pathogenic rs128624220 GRCh37 Chromosome X, 153001826: 153001826
12 ABCD1 NM_000033.3(ABCD1): c.1390C> T (p.Arg464Ter) single nucleotide variant Pathogenic rs128624221 GRCh37 Chromosome X, 153001964: 153001964
13 ABCD1 NM_000033.3(ABCD1): c.1415_1416delAG (p.Gln472Argfs) deletion Pathogenic rs387906494 GRCh37 Chromosome X, 153002632: 153002633
14 ABCD1 NM_000033.3(ABCD1): c.1429G> T (p.Glu477Ter) single nucleotide variant Pathogenic rs128624222 GRCh37 Chromosome X, 153002646: 153002646
15 ABCD1 NM_000033.3(ABCD1): c.1544C> T (p.Ser515Phe) single nucleotide variant Pathogenic rs128624223 GRCh37 Chromosome X, 153005601: 153005601
16 ABCD1 NM_000033.3(ABCD1): c.1552delC (p.Arg518Glyfs) deletion Pathogenic rs387906495 GRCh37 Chromosome X, 153005609: 153005609
17 ABCD1 NM_000033.3(ABCD1): c.1552C> T (p.Arg518Trp) single nucleotide variant Pathogenic rs128624224 GRCh37 Chromosome X, 153005609: 153005609
18 ABCD1 ABCD1, IVS6DS, G-A, +1 single nucleotide variant Pathogenic
19 ABCD1 ABCD1, 2-BP DEL, 2177TA deletion Pathogenic
20 ABCD1 NM_000033.3(ABCD1): c.1817C> T (p.Ser606Leu) single nucleotide variant Pathogenic rs128624225 GRCh37 Chromosome X, 153008477: 153008477
21 ABCD1 NM_000033.3(ABCD1): c.1850G> A (p.Arg617His) single nucleotide variant Pathogenic rs11146842 GRCh37 Chromosome X, 153008510: 153008510
22 ABCD1 NM_000033.3(ABCD1): c.1849C> T (p.Arg617Cys) single nucleotide variant Pathogenic rs4010613 GRCh37 Chromosome X, 153008509: 153008509
23 ABCD1 NM_000033.3(ABCD1): c.871_873delGAG (p.Glu292del) deletion Pathogenic rs387906496 GRCh37 Chromosome X, 152991592: 152991594
24 ABCD1 ABCD1, IVS8DS, G-A, +1 single nucleotide variant Pathogenic
25 ABCD1 ABCD1, IVS1DS, G-A, -1 single nucleotide variant Pathogenic
26 ABCD1 NM_000033.3(ABCD1): c.1366dupC (p.Arg456Profs) duplication Likely pathogenic rs193922093 GRCh37 Chromosome X, 153001940: 153001940
27 ABCD1 NM_000033.3(ABCD1): c.1592T> C (p.Leu531Pro) single nucleotide variant Likely pathogenic rs193922094 GRCh37 Chromosome X, 153005649: 153005649
28 ABCD1 NM_000033.3(ABCD1): c.421G> A (p.Ala141Thr) single nucleotide variant Pathogenic rs193922097 GRCh37 Chromosome X, 152991142: 152991142
29 ABCD1 NM_000033.3(ABCD1): c.838C> T (p.Arg280Cys) single nucleotide variant Likely pathogenic rs193922098 GRCh37 Chromosome X, 152991559: 152991559
30 ABCD1 NM_000033.3(ABCD1): c.1396C> T (p.Gln466Ter) single nucleotide variant Pathogenic rs398123100 GRCh37 Chromosome X, 153002613: 153002613
31 ABCD1 NM_000033.3(ABCD1): c.1553G> A (p.Arg518Gln) single nucleotide variant Pathogenic rs398123102 GRCh37 Chromosome X, 153005610: 153005610
32 ABCD1 NM_000033.3(ABCD1): c.1586G> A (p.Gly529Asp) single nucleotide variant Likely pathogenic rs398123103 GRCh37 Chromosome X, 153005643: 153005643
33 ABCD1 NM_000033.3(ABCD1): c.1660C> A (p.Arg554Ser) single nucleotide variant Likely pathogenic rs398123104 GRCh37 Chromosome X, 153006053: 153006053
34 ABCD1 NM_000033.3(ABCD1): c.1679C> T (p.Pro560Leu) single nucleotide variant Pathogenic rs398123105 GRCh37 Chromosome X, 153006072: 153006072
35 ABCD1 NM_000033.3(ABCD1): c.1771C> T (p.Arg591Trp) single nucleotide variant Pathogenic rs398123106 GRCh37 Chromosome X, 153006164: 153006164
36 ABCD1 NM_000033.3(ABCD1): c.1802G> A (p.Trp601Ter) single nucleotide variant Pathogenic rs398123107 GRCh37 Chromosome X, 153008462: 153008462
37 ABCD1 NM_000033.3(ABCD1): c.1866-10G> A single nucleotide variant Pathogenic rs398123108 GRCh37 Chromosome X, 153008665: 153008665
38 ABCD1 NM_000033.3(ABCD1): c.31_46del16 (p.Arg11Serfs) deletion Pathogenic rs398123109 GRCh37 Chromosome X, 152990752: 152990767
39 ABCD1 NM_000033.3(ABCD1): c.346G> A (p.Gly116Arg) single nucleotide variant Pathogenic rs398123110 GRCh37 Chromosome X, 152991067: 152991067
40 ABCD1 NM_000033.3(ABCD1): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs398123111 GRCh37 Chromosome X, 152991127: 152991127
41 ABCD1 NM_000033.3(ABCD1): c.498_520del23 (p.Val167Leufs) deletion Pathogenic rs398123112 GRCh37 Chromosome X, 152991219: 152991241
42 ABCD1 NM_000033.3(ABCD1): c.614C> A (p.Ala205Glu) single nucleotide variant Likely pathogenic rs398123113 GRCh37 Chromosome X, 152991335: 152991335
43 ABCD1 NM_000033.3(ABCD1): c.253dupC (p.Arg85Profs) duplication Pathogenic rs713993050 GRCh38 Chromosome X, 153725519: 153725519
44 ABCD1 NM_000033.3(ABCD1): c.1661G> A (p.Arg554His) single nucleotide variant Pathogenic rs201568579 GRCh38 Chromosome X, 153740600: 153740600
45 ABCD1 NM_000033.3(ABCD1): c.1825G> A (p.Glu609Lys) single nucleotide variant Pathogenic rs150346282 GRCh37 Chromosome X, 153008485: 153008485
46 ABCD1 NM_000033.3(ABCD1): c.1201C> G (p.Arg401Gly) single nucleotide variant Likely pathogenic rs727503786 GRCh37 Chromosome X, 153001685: 153001685
47 ABCD1 NM_000033.3(ABCD1): c.887A> G (p.Tyr296Cys) single nucleotide variant Pathogenic rs797044610 GRCh37 Chromosome X, 152991608: 152991608
48 ABCD1 NM_000033.3(ABCD1): c.886T> C (p.Tyr296His) single nucleotide variant Likely pathogenic rs797044611 GRCh37 Chromosome X, 152991607: 152991607
49 ABCD1 NM_000033.3(ABCD1): c.2006_2007delAC (p.His669Leufs) deletion Pathogenic rs797044625 GRCh37 Chromosome X, 153008957: 153008958
50 ABCD1 NM_000033.3(ABCD1): c.1992-2A> G single nucleotide variant Pathogenic rs797044626 GRCh37 Chromosome X, 153008941: 153008941

Expression for Adrenoleukodystrophy

Search GEO for disease gene expression data for Adrenoleukodystrophy.

Pathways for Adrenoleukodystrophy

GO Terms for Adrenoleukodystrophy

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.97 ABCB6 ABCD1 ABCD3 ACOX1 BCAP31 CAT
2 peroxisome GO:0005777 9.77 ABCD1 ABCD2 ABCD3 ABCD4 ACOX1 CAT
3 peroxisomal matrix GO:0005782 9.56 ABCD3 ACOX1 CAT EHHADH
4 integral component of peroxisomal membrane GO:0005779 9.46 ABCD1 PEX10 PEX26 SLC27A2
5 ATP-binding cassette (ABC) transporter complex GO:0043190 9.4 ABCB6 ABCD4
6 peroxisomal membrane GO:0005778 9.4 ABCD1 ABCD2 ABCD3 ABCD4 ACOX1 CAT
7 membrane GO:0016020 10.21 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4 ACOX1
8 cytosol GO:0005829 10.13 ABCB6 ABCD1 ABCD2 ABCD3 BCAP31 CAT

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4 PEX19
2 fatty acid metabolic process GO:0006631 9.7 ACOX1 EHHADH SLC27A2
3 protein import into peroxisome matrix GO:0016558 9.56 PEX1 PEX10 PEX26 PEX5
4 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.54 ABCD1 ACOX1 EHHADH
5 alpha-linolenic acid metabolic process GO:0036109 9.51 ABCD1 ACOX1
6 protein import into peroxisome membrane GO:0045046 9.5 PEX19 PEX26 PEX5
7 very long-chain fatty acid metabolic process GO:0000038 9.49 ABCD2 ACOX1
8 protein targeting to peroxisome GO:0006625 9.48 PEX1 PEX19
9 very long-chain fatty acid catabolic process GO:0042760 9.46 ABCD1 ABCD2 ABCD3 SLC27A2
10 peroxisomal long-chain fatty acid import GO:0015910 9.43 ABCD1 ABCD3
11 peroxisome organization GO:0007031 9.43 ABCD1 ABCD3 PEX1 PEX10 PEX19 PEX5
12 fatty acid beta-oxidation GO:0006635 9.17 ABCD1 ABCD2 ABCD3 ACOX1 EHHADH PEX5
13 transport GO:0006810 10.06 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4 BCAP31

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

id Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.87 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4 PEX1
2 receptor binding GO:0005102 9.71 ACOX1 CAT EHHADH SLC27A2
3 enzyme binding GO:0019899 9.65 ABCD1 CAT EHHADH PEX5 SLC27A2
4 ATPase activity GO:0016887 9.55 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4
5 protein N-terminus binding GO:0047485 9.54 ACOX1 PEX19 PEX5
6 long-chain fatty acid transporter activity GO:0005324 9.13 ABCD1 ABCD2 ABCD3
7 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCB6 ABCD1 ABCD2 ABCD3 ABCD4

Sources for Adrenoleukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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48 NDF-RT
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68 Tocris
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70 UMLS via Orphanet
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