MCID: ADR022
MIFTS: 37

Adrenomyeloneuropathy

Categories: Rare diseases, Genetic diseases, Endocrine diseases

Aliases & Classifications for Adrenomyeloneuropathy

MalaCards integrated aliases for Adrenomyeloneuropathy:

Name: Adrenomyeloneuropathy 50 24 69
Amn 50 24
Adrenoleukodystrophy 69

Classifications:



Summaries for Adrenomyeloneuropathy

NIH Rare Diseases : 50 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. last updated: 2/26/2015

MalaCards based summary : Adrenomyeloneuropathy, also known as amn, is related to adrenoleukodystrophy and addison's disease, 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 Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone.

Wikipedia : 72 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 16)
id Related Disease Score Top Affiliating Genes
1 adrenoleukodystrophy 11.9
2 addison's disease 10.0
3 cerebritis 10.0
4 spastic paraparesis 10.0
5 spasticity 10.0
6 sclerosing keratitis 9.9 ABCD1 SLC25A17
7 neuropathy 9.8
8 thrombocytopenia 9.7
9 autonomic neuropathy 9.7
10 polyneuropathy 9.7
11 hypothyroidism 9.7
12 cervicitis 9.7
13 paraplegia 9.7
14 neuronitis 9.7
15 pfeiffer mayer syndrome 9.6 ABCD1 SLC25A17
16 adult-onset immunodeficiency with anti-interferon-gamma autoantibodies 7.8 ABCD1 ADM AMACR CGA 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, abnormal coordination, unspecified visual loss

Drugs & Therapeutics for Adrenomyeloneuropathy

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

(show top 50) (show all 86)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
6
Biotin Approved, Nutraceutical Phase 2, Phase 3 58-85-5 171548
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
8
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
9 Micronutrients Phase 2, Phase 3,Phase 1
10 Trace Elements Phase 2, Phase 3,Phase 1
11 Vitamin B Complex Phase 2, Phase 3
12 Vitamins Phase 2, Phase 3,Phase 1
13 Bile Acids and Salts Phase 3
14 Cholic Acids Phase 3
15 Gastrointestinal Agents Phase 3
16 Liver Extracts Phase 3
17 Alkylating Agents Phase 2, Phase 3
18 Antilymphocyte Serum Phase 2, Phase 3
19 Antirheumatic Agents Phase 2, Phase 3
20 Immunosuppressive Agents Phase 2, Phase 3
21 Methylprednisolone acetate Phase 2, Phase 3
22 Methylprednisolone Hemisuccinate Phase 2, Phase 3
23 Prednisolone acetate Phase 2, Phase 3
24 Prednisolone hemisuccinate Phase 2, Phase 3
25 Prednisolone phosphate Phase 2, Phase 3
26 Antimetabolites Phase 3,Phase 2
27 Hypolipidemic Agents Phase 3
28 Lipid Regulating Agents Phase 3
29 Pharmaceutical Solutions Phase 2, Phase 3
30 Folate Nutraceutical Phase 2, Phase 3
31 Vitamin B7 Nutraceutical Phase 2, Phase 3
32 Vitamin B9 Nutraceutical Phase 2, Phase 3
33
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
34
alemtuzumab Approved, Investigational Phase 2 216503-57-0
35
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
36
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
37
Hydroxyurea Approved Phase 2 127-07-1 3657
38
Melphalan Approved Phase 2 148-82-3 4053 460612
39
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
40
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
41
Mycophenolic acid Approved Phase 2 24280-93-1 446541
42
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
43
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
44
rituximab Approved Phase 2 174722-31-7 10201696
45 Thiotepa Approved Phase 2 52-24-4 5453
46
Mesna Approved Phase 2 3375-50-6 598
47 Tocopherol Approved, Nutraceutical Phase 2
48
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
49 tannic acid Approved, Nutraceutical Phase 2
50
Cholecalciferol Approved, Nutraceutical Phase 1, Phase 2 67-97-0 6221 10883523 5280795

Interventional clinical trials:

(show all 36)

id 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 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 A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. Not yet recruiting NCT03231878 Phase 2, Phase 3 MIN-102;Placebos
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 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 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)
15 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
16 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
17 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
18 Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Not yet recruiting NCT03196765 Phase 1, Phase 2 Sobetirome
19 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
20 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
21 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
22 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
23 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044
24 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
25 The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Bezafibrate
26 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853
27 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
28 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
29 Newborn Screening for Adrenoleukodystrophy Recruiting NCT02952482
30 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
31 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy Available NCT02233257 Lorenzo's Oil
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 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Not yet recruiting NCT03278899
35 Early Diagnosis Of Childhood Cerebral ALD Not yet recruiting NCT02948062
36 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Adrenomyeloneuropathy

Genetic Tests for Adrenomyeloneuropathy

Genetic tests related to Adrenomyeloneuropathy:

id Genetic test Affiliating Genes
1 Adrenomyeloneuropathy 24

Anatomical Context for Adrenomyeloneuropathy

MalaCards organs/tissues related to Adrenomyeloneuropathy:

39
Brain, Spinal Cord, Bone, Liver, T Cells, Bone Marrow, Skin

Publications for Adrenomyeloneuropathy

Articles related to Adrenomyeloneuropathy:

(show top 50) (show all 121)
id Title Authors Year
1
A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene. ( 28456143 )
2017
2
MicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy. ( 26843114 )
2016
3
Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes. ( 27068048 )
2016
4
Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon. ( 27423567 )
2016
5
Romiplostim mitigates dose-limiting thrombocytopenia of erucic acid for adrenomyeloneuropathy. ( 25854532 )
2015
6
Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy. ( 26370417 )
2015
7
Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy. ( 25378668 )
2014
8
Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene. ( 24685009 )
2014
9
Abadie's sign in adrenomyeloneuropathy. ( 24726718 )
2014
10
Yoga as Therapy for Neurodegenerative Disorders: A Case Report of Therapeutic Yoga for Adrenomyeloneuropathy. ( 26770098 )
2014
11
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy. ( 24719134 )
2014
12
Adrenomyeloneuropathy with bulbar palsy: A rare association. ( 25221415 )
2014
13
Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit". ( 24018110 )
2013
14
Adrenomyeloneuropathy presenting with adrenal insufficiency. ( 24020038 )
2013
15
Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit. ( 22795299 )
2013
16
Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy. ( 23009600 )
2012
17
Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy. ( 22048970 )
2012
18
Adrenomyeloneuropathy. ( 23405547 )
2012
19
Strength: a relevant link to functional performance in the neurodegenerative disease of adrenomyeloneuropathy. ( 22544816 )
2012
20
X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy. ( 22176151 )
2011
21
Is subclinical adrenal failure in adrenoleukodystrophy/adrenomyeloneuropathy reversible? ( 21399389 )
2011
22
Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid--a case report. ( 21871076 )
2011
23
Efferent and afferent evoked potentials in patients with adrenomyeloneuropathy. ( 19963315 )
2010
24
Picture of the month: adrenoleukodystrophy and adrenomyeloneuropathy. ( 20048250 )
2010
25
Quantitative magnetization transfer characteristics of the human cervical spinal cord in vivo: application to adrenomyeloneuropathy. ( 19097204 )
2009
26
Auditory function in adrenomyeloneuropathy. ( 18199457 )
2008
27
Adrenomyeloneuropathy, presenting with sub-acute spastic paraparesis and Addison's disease. ( 21063355 )
2008
28
A novel ABCD1 gene mutation in a Chinese-Taiwanese patient with adrenomyeloneuropathy. ( 17509471 )
2007
29
Prominent brain axonal damage and functional reorganization in "pure" adrenomyeloneuropathy. ( 17875914 )
2007
30
The neuropsychiatry of adrenomyeloneuropathy. ( 17805216 )
2007
31
Sensorimotor function and axonal integrity in adrenomyeloneuropathy. ( 16401738 )
2006
32
Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis. ( 16672758 )
2006
33
Transcranial magnetic stimulation after conditioning stimulation in two adrenomyeloneuropathy patients: delayed but facilitated motor-evoked potentials. ( 17049132 )
2006
34
Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy. ( 15911801 )
2005
35
Adrenomyeloneuropathy. ( 16121813 )
2005
36
Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy. ( 15668429 )
2005
37
Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathy. ( 16240348 )
2005
38
Adrenal steroids in adrenomyeloneuropathy. Dehydroepiandrosterone sulfate, androstenedione and 17alpha-hydroxyprogesterone. ( 16362829 )
2005
39
Adrenomyeloneuropathy: report of a new mutation in a French Canadian female. ( 16018167 )
2005
40
Spinal cord atrophy in adrenomyeloneuropathy. ( 16009777 )
2005
41
Plasma levels of adrenomedullin in patients with adrenoleukodystrophy/adrenomyeloneuropathy. ( 15711093 )
2005
42
Adrenomyeloneuropathy, a dynamic progressive disorder: brain magnetic resonance imaging of two cases. ( 15007575 )
2004
43
Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis. ( 15505272 )
2004
44
A randomized controlled study of modified cobratoxin in adrenomyeloneuropathy. ( 12939429 )
2003
45
Clinical and electrophysiological improvement of adrenomyeloneuropathy with steroid treatment. ( 12754367 )
2003
46
Adrenomyeloneuropathy partially responsive to steroid pulse therapy. ( 12391499 )
2002
47
Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. ( 11875044 )
2002
48
Brain dysfunction explored by long latency reflex: a study of adrenomyeloneuropathy. ( 11493228 )
2001
49
The dorsal root ganglia in adrenomyeloneuropathy: neuronal atrophy and abnormal mitochondria. ( 11379824 )
2001
50
A case of adrenomyeloneuropathy with unusual lesion pattern in magnetic resonance imaging. ( 11374105 )
2001

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:

id 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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 transporter activity GO:0005215 8.96 ABCD1 SLC25A17
2 hormone activity GO:0005179 8.62 ADM CGA

Sources for Adrenomyeloneuropathy

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
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