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AMN
MCID: ADR022
MIFTS: 38

Adrenomyeloneuropathy (AMN)

Categories: Endocrine diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Adrenomyeloneuropathy

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MalaCards integrated aliases for Adrenomyeloneuropathy:

Name: Adrenomyeloneuropathy 52 71
Adrenoleukodystrophy 71
Amn 52

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 71 C0162309 C1527231
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Summaries for Adrenomyeloneuropathy

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NIH Rare Diseases : 52 Adrenomyeloneuropathy (AMN) is an inherited condition that affects the spinal cord. It is a form of X-linked adrenoleukodystrophy . On average, people with AMN begin to develop features in the late twenties. Signs and symptoms may include progressive stiffness and weakness of the legs; ataxia ; speech difficulties; adrenal insufficiency ; sexual dysfunction; and bladder control issues. Some people with AMN also have brain involvement which can lead to behavioral abnormalities, vision loss, hearing problems, and/or seizures . AMN is caused by changes (mutations ) in the ABCD1 gene and is inherited in an X-linked manner. Treatment addresses the symptoms in each person and may include steroid replacement therapy for adrenal insufficiency.

MalaCards based summary : Adrenomyeloneuropathy, also known as adrenoleukodystrophy, is related to adrenoleukodystrophy and peroxisomal disease, and has symptoms including seizures, ataxia and paraparesis. An important gene associated with Adrenomyeloneuropathy is ABCD1 (ATP Binding Cassette Subfamily D Member 1), and among its related pathways/superpathways are G alpha (s) signalling events and Peroxisome. The drugs Methylprednisolone and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and bone marrow.

Wikipedia : 74 Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup... more...

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Related Diseases for Adrenomyeloneuropathy

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

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 adrenoleukodystrophy 33.4 SLC25A17 ABCD1
2 peroxisomal disease 30.1 SLC25A17 ABCD1
3 demyelinating disease 29.3 SLC25A17 ABCD1
4 megaloblastic anemia 12.2
5 imerslund-grasbeck syndrome 1 12.2
6 imerslund-grasbeck syndrome 2 12.2
7 vitamin b12 deficiency 11.6
8 macrocytic anemia 11.5
9 3-methylglutaconic aciduria, type i 11.3
10 x-linked cerebral adrenoleukodystrophy 11.3
11 donnai-barrow syndrome 11.2
12 vitamin metabolic disorder 11.2
13 congenital intrinsic factor deficiency 11.2
14 3-methylglutaconic aciduria 11.2
15 tropical sprue 11.2
16 spastic paraparesis 10.8
17 neuropathy 10.7
18 peripheral nervous system disease 10.7
19 premature ovarian failure 7 10.5
20 impotence 10.5
21 paraplegia 10.5
22 ataxia and polyneuropathy, adult-onset 10.4
23 hypogonadism 10.4
24 spasticity 10.4
25 primary adrenal insufficiency 10.3
26 renal oncocytoma 10.3
27 autosomal recessive disease 10.3
28 measles 10.3
29 polyneuropathy 10.3
30 hereditary spastic paraplegia 10.3
31 pituitary gland disease 10.2
32 acute adrenal insufficiency 10.2
33 brucellosis 10.2
34 dowling-degos disease 1 10.1
35 hypoadrenocorticism, familial 10.1
36 neurogenic bladder 10.1
37 acute cystitis 10.1
38 hypothyroidism 10.1
39 thrombocytopenia 10.1
40 testicular disease 10.1
41 inherited metabolic disorder 10.1
42 pathologic nystagmus 10.1
43 charcot-marie-tooth disease, demyelinating, type 1a 10.1
44 hypercholesterolemia, familial, 1 10.1
45 thymoma, familial 10.1
46 pain agnosia 10.1
47 typhoid fever 10.1
48 viral hepatitis 10.1
49 thymoma 10.1
50 poliomyelitis 10.1

Graphical network of the top 20 diseases related to Adrenomyeloneuropathy:



Diseases related to Adrenomyeloneuropathy
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Symptoms & Phenotypes for Adrenomyeloneuropathy

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UMLS symptoms related to Adrenomyeloneuropathy:


seizures, ataxia, paraparesis, muscle spasticity, absence of sensation, unspecified visual loss
Sources

Drugs & Therapeutics for Adrenomyeloneuropathy

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

(show top 50) (show all 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
2
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
3
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
4 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
7
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
8
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
9
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
11
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
12
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
13
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
14 Vitamin B Complex Phase 2, Phase 3
15 Folate Phase 2, Phase 3
16 Vitamin B9 Phase 2, Phase 3
17 Vitamin B7 Phase 2, Phase 3
18 Hypolipidemic Agents Phase 3
19 Lipid Regulating Agents Phase 3
20 Antimetabolites Phase 3
21 Gastrointestinal Agents Phase 3
22 Cholic Acids Phase 3
23 Bile Acids and Salts Phase 3
24 Antirheumatic Agents Phase 2, Phase 3
25 Methylprednisolone Acetate Phase 2, Phase 3
26 Liver Extracts Phase 3
27 Pharmaceutical Solutions Phase 2, Phase 3
28
Pioglitazone Approved, Investigational Phase 2 111025-46-8 4829
29
tannic acid Approved Phase 2 1401-55-4
30
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
31
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
32
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
33
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
34
Mycophenolic acid Approved Phase 2 24280-93-1 446541
35
Mesna Approved, Investigational Phase 2 3375-50-6 598
36
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
37
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
38
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
39
Hydroxyurea Approved Phase 2 127-07-1 3657
40
Melphalan Approved Phase 2 148-82-3 460612 4053
41
alemtuzumab Approved, Investigational Phase 2 216503-57-0
42
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
43
rituximab Approved Phase 2 174722-31-7 10201696
44
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
45 Tocotrienol Investigational Phase 2 6829-55-6
46 Respiratory System Agents Phase 2
47 Antidotes Phase 2
48 Anti-Infective Agents Phase 2
49 Antioxidants Phase 2
50 Expectorants Phase 2

Interventional clinical trials:

(show top 50) (show all 51)
# Name Status NCT ID Phase Drugs
1 MD1003 in Adrenomyeloneuropathy : a Randomized Double Blind Placebo Controlled Study Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
2 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
3 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
4 A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders. Completed NCT01838941 Phase 3 Betaine
5 A Phase 3 Study of Lenti-D Drug Product After Myeloablative Conditioning Using Busulfan and Fludarabine in Subjects ≤17 Years of Age With Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT03852498 Phase 3 Genetic
6 A Randomized, Double-blind, Placebo-controlled, Multinational, Multicenter Study With Open-label Treatment Extension to Assess the Effect of MIN-102 (IMP) on the Progression of Adrenomyeloneuropathy in Male Patients With X-linked Adrenoleukodystrophy Active, not recruiting NCT03231878 Phase 2, Phase 3 MIN-102;Placebos
7 A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Active, not recruiting NCT01896102 Phase 2, Phase 3
8 Effect of Plasma Exchange With Albumin in Patients With Adrenomyeloneuropathy: Unicentric, Single Arm, Proof of Concept Study. Not yet recruiting NCT04303416 Phase 2, Phase 3 Albumin solution
9 Study of Glyceryl Trierucate and Glyceryl Trioleate (Lorenzo's Oil) Therapy in Male Children With Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
10 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
11 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
12 A Clinical Trial for Adrenomyeloneuropathy (AMN): Validation of Biomarkers of Oxidative Stress, and Efficacy, Tolerance and Safety of a Mixture of the Antioxidants N-acetylcysteine, Lipoic Acid and Vitamin E Completed NCT01495260 Phase 2 N-acetylcysteine;lipoic acid;vitamin E
13 Effect of Pioglitazone Administered to Patients With Adrenomyeloneuropathy: a Phase II, Single-arm, Multicentric Clinical Trial Completed NCT03864523 Phase 2 Pioglitazone
14 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
15 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
16 A Phase I/II Clinical Trial of Lentiviral Hematopoietic Stem Cell Gene Therapy for Treatment of Developed Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
17 A Phase 2, Single-arm, Open-label Study to Evaluate the Safety and Efficacy of MGTA-456 in Patients With Inherited Metabolic Disorders (IMD) Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
18 Haploidentical Donor T-cell Replete Allogeneic Hematopoietic Cell Transplant Following Reducing Intensity Conditioning for Patients With Selected High Risk Non-Malignant Disease Recruiting NCT03367546 Phase 2
19 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
20 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
21 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
22 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
23 Phase I/II, Open-Label, Dose Escalation Study of the Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Childhood Cerebral Adrenoleukodystrophy (CCALD) Withdrawn NCT03196765 Phase 1, Phase 2 Sobetirome (NV1205)
24 A Multicenter Access and Distribution Protocol for Unlicensed Cryopreserved Cord Blood Units (CBUs) for Transplantation in Pediatric and Adult Patients With Hematologic Malignancies and Other Indications Withdrawn NCT01479582 Phase 2 Access to unlicensed cord blood units
25 A Phase 1 Open-Label Single-Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of OP-101 (Dendrimer N-Acetyl-Cysteine) After Intravenous Administration in Healthy Volunteers Completed NCT03500627 Phase 1 OP-101
26 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
27 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Active, not recruiting NCT02595489 Phase 1
28 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
29 A Prospective Safety, Tolerance, Pharmacodynamics and Pharmacokinetics Study of Sobetirome in Male Subjects Diagnosed With X-linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
30 MT2014-14 Intrathecal Administration of Mesenchymal Stem Cells (IT-MSC) for the Treatment of Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
31 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044
32 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
33 Effect of Bezafibrate on Very Long Chain Fatty Acid Metabolism in Men With X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Bezafibrate
34 A Pilot Study of Repetitive Transcranial Magnetic Stimulation for Improvement of Gait in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416
35 Exercise Study of Function and Pathology for Women With X-ALD Completed NCT01594853
36 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
37 Newborn Screening for Adrenoleukodystrophy Completed NCT02952482
38 Treatment of High Risk, Inherited Lysosomal and Peroxisomal Disorders by Reduced-Intensity Hematopoietic Cell Transplantation and Low-Dose Total Body Irradiation With Marrow Boosting by Volumetric-Modulated Arc Therapy (VMAT) Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
39 Unrelated Donor Bone Marrow Transplantation for Definitive Treatment of Patients With Phosphoglycerate Kinase (PGK) Deficiency Completed NCT00592540
40 Lentiviral Gene Therapy for X-linked Adrenoleukodystrophy (X-ALD) Recruiting NCT03727555
41 Minnesota Adrenoleukodystrophy Registry Study (MARS) and Biobank Recruiting NCT03789721
42 A Non-interventional Study to Prospectively Assess Baseline Status and Disease Progression in Male Children With X-Linked Adrenoleukodystrophy Recruiting NCT03278899
43 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
44 Precision Exercise Program in Children With Malignant Hemopathies Undergoing Therapy and/or Hematopoietic Stem Cell Transplantation: The "Sport Therapy" Project Recruiting NCT04090268
45 A Compassionate Release Protocol: Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Allogeneic Transplantation Using a Related Haplo-Identical Donor and Unrelated, Umbilical Cord Blood Donor(s) for the Treatment of High Risk Malignancies or Non-Malignant Disorders Requiring Allogeneic Transplantation Available NCT01881334
46 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
47 A Follow-Up Study to Evaluate the Safety and Clinical Outcomes of Patients With Non-Malignant Disease Who Have Undergone Hematopoietic Stem Cell Transplantation With MGTA-456 Enrolling by invitation NCT04008849
48 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil
49 A Prospective and Retrospective Data Collection Study to Evaluate Outcomes in Males ≤17 Years of Age Undergoing Allogeneic Hematopoietic Stem Cell Transplantation for the Treatment of Cerebral Adrenoleukodystrophy Terminated NCT02204904
50 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Adrenomyeloneuropathy

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Genetic Tests for Adrenomyeloneuropathy

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Anatomical Context for Adrenomyeloneuropathy

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MalaCards organs/tissues related to Adrenomyeloneuropathy:

40
Brain, Bone, Bone Marrow, Skin, Spinal Cord, Liver, Testes
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Publications for Adrenomyeloneuropathy

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Articles related to Adrenomyeloneuropathy:

(show top 50) (show all 2121)
# Title Authors PMID Year
1
Proteasome-dependent protein quality control of the peroxisomal membrane protein Pxa1p. 61
32416190 2020
2
The Changing Face of Adrenoleukodystrophy. 61
32364223 2020
3
Natural history of brain lesions in X-linked adrenoleukodystrophy: On-again, off-again. 61
32482840 2020
4
High-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy. 61
32511826 2020
5
Asymptomatic adrenoleukodystrophy in elderly males. 61
32307584 2020
6
Clinical and radiographic course of arrested cerebral adrenoleukodystrophy. 61
32482842 2020
7
What Can Mimic Multiple Sclerosis? 61
32448485 2020
8
Failure of intrathecal allogeneic mesenchymal stem cells to halt progressive demyelination in two boys with cerebral adrenoleukodystrophy. 61
32020747 2020
9
The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy. 61
32017990 2020
10
Correction to: Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy. 61
32436104 2020
11
Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies. 61
32394691 2020
12
Pharmacological Complementation Remedies an Inborn Error of Lipid Metabolism. 61
32169163 2020
13
Unusual early-onset and severe adrenomyeloneuropathy in women. 61
32367612 2020
14
Epilepsy in children with leukodystrophies. 61
32388833 2020
15
Geographic and Specialty Access Disparities in US Pediatric Leukodystrophy Diagnosis. 61
32143930 2020
16
Vorinostat in the acute neuroinflammatory form of X-linked adrenoleukodystrophy. 61
32359032 2020
17
Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG). 61
31822849 2020
18
Hexacosenoyl-CoA is the most abundant very long-chain acyl-CoA in ATP binding cassette transporter D1-deficient cells. 61
32075856 2020
19
Evaluation of a panel of very long-chain lysophosphatidylcholines and acylcarnitines for screening of X-linked adrenoleukodystrophy in China. 61
31978407 2020
20
Adrenomyeloneuropathy Masquerading as Chronic Myelitis. 61
32091543 2020
21
Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease. 61
32207279 2020
22
Reduced-Toxicity (BuFlu) Conditioning Is Better Tolerated but Has a Higher Second Transplantation Rate Compared to Myeloablative Conditioning (BuCy) in Children with Inherited Metabolic Disorders. 61
31751770 2020
23
Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy. 61
31720823 2020
24
Adrenoleukodystrophy presenting as glue sniffing. 61
32169980 2020
25
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis. 61
31917682 2020
26
Anesthetic management of pediatric patients diagnosed with X-linked adrenoleukodystrophy: A single-center experience. 61
31841242 2020
27
The experience of allogeneic hematopoietic stem cell transplantation in a patient with X-linked adrenoleukodystrophy. 61
31350055 2020
28
X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies. 61
31909500 2020
29
Spinal cord atrophy as a measure of severity of myelopathy in adrenoleukodystrophy. 61
32077106 2020
30
Unresponsive 4-Year-Old Boy Found to Have X-Linked Adrenoleukodystrophy. 61
31663106 2020
31
A 29-year-old patient with adrenoleukodystrophy presenting with Addison's disease. 61
32101828 2020
32
Progressive hemiparesis reveals X-linked adrenoleukodystrophy in a 3.5-year-old boy. 61
32107715 2020
33
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia. 61
31865189 2020
34
Adult-onset cerebral X-linked adrenoleukodystrophy presenting as obsessive-compulsive disorder. 61
31967205 2020
35
Gene therapy for neurological disorders: challenges and recent advancements. 61
31195838 2020
36
Adrenoleukodystrophy in the era of newborn screening. 61
31789721 2020
37
X-linked Adrenoleukodystrophy: Atypical Clinico-Radiological Presentation - Correspondence. 61
31925718 2020
38
Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy. 61
31777199 2020
39
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling. 61
32047678 2020
40
Adrenomyeloneuropathy Presenting with Spastic Gait. 61
31950643 2020
41
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina. 61
32003821 2020
42
X-Linked Adrenoleukodystrophy Mimicking Hereditary Spastic Paraplegia. 61
31970225 2020
43
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 61
31829048 2020
44
Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years. 61
31418856 2020
45
Erucic acid, a nutritional PPARδ-ligand may influence Huntington's disease pathogenesis. 61
31625071 2020
46
Longitudinal diffusion MRI as surrogate outcome measure for myelopathy in adrenoleukodystrophy. 61
31719133 2019
47
Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network. 61
31499213 2019
48
X-linked adrenoleukodystrophy presenting as isolated spastic paraparesia. 61
30697666 2019
49
Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy. 61
31665121 2019
50
X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies. 61
31778737 2019
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Variations for Adrenomyeloneuropathy

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Expression for Adrenomyeloneuropathy

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Search GEO for disease gene expression data for Adrenomyeloneuropathy.
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Pathways for Adrenomyeloneuropathy

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Pathways related to Adrenomyeloneuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
G alpha (s) signalling events 65
11.32 CGA ADM
2
Peroxisome 36
11.05 SLC25A17 AMACR ABCD1
3
Peroxisomal lipid metabolism 65
Show member pathways
 10.52 SLC25A17 AMACR ABCD1
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GO Terms for Adrenomyeloneuropathy

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

# Name GO ID Score Top Affiliating Genes
1 peroxisomal membrane GO:0005778 9.16 SLC25A17 ABCD1
2 integral component of peroxisomal membrane GO:0005779 8.96 SLC25A17 ABCD1
3 peroxisome GO:0005777 8.8 SLC25A17 AMACR ABCD1

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

# Name GO ID Score Top Affiliating Genes
1 fatty acid beta-oxidation GO:0006635 9.16 SLC25A17 ABCD1
2 developmental growth GO:0048589 8.96 CGA ADM
3 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 8.62 AMACR ABCD1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 CGA ADM
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Sources for Adrenomyeloneuropathy

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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