MCID: ADR022
MIFTS: 39

Adrenomyeloneuropathy

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Adrenomyeloneuropathy

MalaCards integrated aliases for Adrenomyeloneuropathy:

Name: Adrenomyeloneuropathy 53 73
Adrenoleukodystrophy 73
Amn 53

Classifications:



External Ids:

UMLS 73 C1527231

Summaries for Adrenomyeloneuropathy

NIH Rare Diseases : 53 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 megaloblastic anemia 1, and has symptoms including ataxia, muscle spasticity and seizures. 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 Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone.

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

Related Diseases for Adrenomyeloneuropathy

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 adrenoleukodystrophy 12.0
2 megaloblastic anemia 1 12.0
3 childhood-onset cerebral x-linked adrenoleukodystrophy 10.9
4 spasticity 10.2
5 spastic paraparesis 10.1
6 cerebritis 10.1
7 neuropathy 9.9
8 aging 9.8
9 thrombocytopenia 9.8
10 spastic ataxia 9.8
11 autonomic neuropathy 9.8
12 polyneuropathy 9.8
13 hypothyroidism 9.8
14 spondylosis 9.8
15 cervicitis 9.8
16 pituitary gland disease 9.8
17 paraplegia 9.8
18 neuronitis 9.8
19 cerebral degeneration 9.1 ABCD1 SLC25A17

Graphical network of the top 20 diseases related to Adrenomyeloneuropathy:



Diseases related to Adrenomyeloneuropathy

Symptoms & Phenotypes for Adrenomyeloneuropathy

UMLS symptoms related to Adrenomyeloneuropathy:


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

Drugs & Therapeutics for Adrenomyeloneuropathy

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

(show top 50) (show all 88)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3 50-18-0, 6055-19-2 2907
2
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3 55-98-1 2478
3
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
6
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
7
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
9 Prednisolone acetate Phase 2, Phase 3
10 Alkylating Agents Phase 2, Phase 3,Not Applicable
11 Methylprednisolone acetate Phase 2, Phase 3
12 Methylprednisolone Hemisuccinate Phase 2, Phase 3
13 Micronutrients Phase 2, Phase 3,Phase 1
14 Cholic Acids Phase 3,Not Applicable
15 Gastrointestinal Agents Phase 3,Not Applicable
16 Trace Elements Phase 2, Phase 3,Phase 1
17 Vitamin B Complex Phase 2, Phase 3
18 Hypolipidemic Agents Phase 3,Not Applicable
19 Vitamins Phase 2, Phase 3,Phase 1
20 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
21 Prednisolone hemisuccinate Phase 2, Phase 3
22 Prednisolone phosphate Phase 2, Phase 3
23 Liver Extracts Phase 3
24 Lipid Regulating Agents Phase 3,Not Applicable
25 Antilymphocyte Serum Phase 2, Phase 3
26 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
27 Antimetabolites Phase 3,Phase 2,Not Applicable
28 Bile Acids and Salts Phase 3,Not Applicable
29 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
30 Pharmaceutical Solutions Phase 2, Phase 3
31 Folate Nutraceutical Phase 2, Phase 3
32 Vitamin B7 Nutraceutical Phase 2, Phase 3
33 Vitamin B9 Nutraceutical Phase 2, Phase 3
34
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
35
Hydroxyurea Approved Phase 2 127-07-1 3657
36
Mesna Approved, Investigational Phase 2 3375-50-6 598
37
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
38
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
39
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
40
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
41
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
42
Mycophenolate mofetil Approved, Investigational Phase 2,Not Applicable 128794-94-5 5281078
43
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
44
rituximab Approved Phase 2 174722-31-7 10201696
45
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
46
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
47
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
48
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
49 tannic acid Approved, Nutraceutical Phase 2,Not Applicable
50
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 MD1003-AMN MD1003 in Adrenomyeloneuropathy Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
2 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
3 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
5 A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. Recruiting NCT03231878 Phase 2, Phase 3 MIN-102;Placebos
6 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
7 Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
8 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
9 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
10 A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants Completed NCT01495260 Phase 2 N-acetylcysteine;lipoic acid;vitamin E
11 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
12 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
13 Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Recruiting NCT03196765 Phase 1, Phase 2 Sobetirome (NV1205)
14 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1, Phase 2
15 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
16 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
17 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
18 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
19 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
20 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
21 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases Not yet recruiting NCT03367546 Phase 2
22 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
23 A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of OP-101 After Intravenous Administration in Healthy Volunteers Recruiting NCT03500627 Phase 1 OP-101
24 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
25 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
26 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
27 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044 Not Applicable
28 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
29 The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Not Applicable Bezafibrate
30 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853 Not Applicable
31 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 Not Applicable glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
32 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
33 Newborn Screening for Adrenoleukodystrophy Recruiting NCT02952482
34 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Recruiting NCT03278899
35 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
36 Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants Available NCT01881334
37 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
38 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil
39 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable chenodeoxycholic acid;cholic acid;ursodiol
40 Early Diagnosis Of Childhood Cerebral ALD Withdrawn NCT02948062

Search NIH Clinical Center for Adrenomyeloneuropathy

Genetic Tests for Adrenomyeloneuropathy

Anatomical Context for Adrenomyeloneuropathy

MalaCards organs/tissues related to Adrenomyeloneuropathy:

41
Brain, Spinal Cord, Bone, Liver, T Cells, Bone Marrow, Skin

Publications for Adrenomyeloneuropathy

Articles related to Adrenomyeloneuropathy:

(show top 50) (show all 129)
# Title Authors Year
1
Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum. ( 29966135 )
2018
2
A Novel Variant in <i>ABCD1</i> Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia. ( 29740390 )
2018
3
Microglial dysfunction as a key pathological change in adrenomyeloneuropathy. ( 29059709 )
2017
4
Highly asymmetric and subacutely progressive motor weakness with unilateral T2-weighted high intensities along the pyramidal tract in the brainstem in adrenomyeloneuropathy. ( 28991658 )
2017
5
Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN). ( 29065337 )
2017
6
A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene. ( 28456143 )
2017
7
Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis. ( 29243459 )
2017
8
MicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy. ( 26843114 )
2016
9
Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon. ( 27423567 )
2016
10
Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes. ( 27068048 )
2016
11
Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy. ( 26370417 )
2015
12
Romiplostim mitigates dose-limiting thrombocytopenia of erucic acid for adrenomyeloneuropathy. ( 25854532 )
2015
13
Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene. ( 24685009 )
2014
14
Abadie's sign in adrenomyeloneuropathy. ( 24726718 )
2014
15
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy. ( 24719134 )
2014
16
Yoga as Therapy for Neurodegenerative Disorders: A Case Report of Therapeutic Yoga for Adrenomyeloneuropathy. ( 26770098 )
2014
17
Adrenomyeloneuropathy with bulbar palsy: A rare association. ( 25221415 )
2014
18
Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy. ( 25378668 )
2014
19
Comment on the paper &amp;quot;Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit&amp;quot;. ( 24018110 )
2013
20
Adrenomyeloneuropathy presenting with adrenal insufficiency. ( 24020038 )
2013
21
Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit. ( 22795299 )
2013
22
Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy. ( 22048970 )
2012
23
Adrenomyeloneuropathy. ( 23405547 )
2012
24
Strength: a relevant link to functional performance in the neurodegenerative disease of adrenomyeloneuropathy. ( 22544816 )
2012
25
Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy. ( 23009600 )
2012
26
X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy. ( 22176151 )
2011
27
Is subclinical adrenal failure in adrenoleukodystrophy/adrenomyeloneuropathy reversible? ( 21399389 )
2011
28
Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid--a case report. ( 21871076 )
2011
29
Efferent and afferent evoked potentials in patients with adrenomyeloneuropathy. ( 19963315 )
2010
30
Picture of the month: adrenoleukodystrophy and adrenomyeloneuropathy. ( 20048250 )
2010
31
Quantitative magnetization transfer characteristics of the human cervical spinal cord in vivo: application to adrenomyeloneuropathy. ( 19097204 )
2009
32
Auditory function in adrenomyeloneuropathy. ( 18199457 )
2008
33
Adrenomyeloneuropathy, presenting with sub-acute spastic paraparesis and Addison's disease. ( 21063355 )
2008
34
Prominent brain axonal damage and functional reorganization in &amp;quot;pure&amp;quot; adrenomyeloneuropathy. ( 17875914 )
2007
35
The neuropsychiatry of adrenomyeloneuropathy. ( 17805216 )
2007
36
A novel ABCD1 gene mutation in a Chinese-Taiwanese patient with adrenomyeloneuropathy. ( 17509471 )
2007
37
Sensorimotor function and axonal integrity in adrenomyeloneuropathy. ( 16401738 )
2006
38
Transcranial magnetic stimulation after conditioning stimulation in two adrenomyeloneuropathy patients: delayed but facilitated motor-evoked potentials. ( 17049132 )
2006
39
Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis. ( 16672758 )
2006
40
Plasma levels of adrenomedullin in patients with adrenoleukodystrophy/adrenomyeloneuropathy. ( 15711093 )
2005
41
Adrenomyeloneuropathy: report of a new mutation in a French Canadian female. ( 16018167 )
2005
42
Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathy. ( 16240348 )
2005
43
Spinal cord atrophy in adrenomyeloneuropathy. ( 16009777 )
2005
44
Spectroscopic evidence of cerebral axonopathy in patients with &amp;quot;pure&amp;quot; adrenomyeloneuropathy. ( 15668429 )
2005
45
Adrenomyeloneuropathy. ( 16121813 )
2005
46
Adrenal steroids in adrenomyeloneuropathy. Dehydroepiandrosterone sulfate, androstenedione and 17alpha-hydroxyprogesterone. ( 16362829 )
2005
47
Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy. ( 15911801 )
2005
48
Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis. ( 15505272 )
2004
49
Adrenomyeloneuropathy, a dynamic progressive disorder: brain magnetic resonance imaging of two cases. ( 15007575 )
2004
50
A randomized controlled study of modified cobratoxin in adrenomyeloneuropathy. ( 12939429 )
2003

Variations for Adrenomyeloneuropathy

Expression for Adrenomyeloneuropathy

Search GEO for disease gene expression data for Adrenomyeloneuropathy.

Pathways for Adrenomyeloneuropathy

Pathways related to Adrenomyeloneuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.32 ADM CGA
2 11.05 ABCD1 AMACR SLC25A17
3
Show member pathways
10.52 ABCD1 AMACR SLC25A17

GO Terms for Adrenomyeloneuropathy

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 ABCD1 SLC25A17
2 integral component of peroxisomal membrane GO:0005779 8.96 ABCD1 SLC25A17
3 peroxisome GO:0005777 8.8 ABCD1 AMACR SLC25A17

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 ABCD1 SLC25A17
2 developmental growth GO:0048589 8.96 ADM CGA
3 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 8.62 ABCD1 AMACR

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 ADM CGA

Sources for Adrenomyeloneuropathy

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10 dbSNP
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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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