AMN
MCID: ADR022
MIFTS: 37

Adrenomyeloneuropathy (AMN) malady

Categories: Rare diseases, Genetic diseases, Endocrine diseases

Aliases & Classifications for Adrenomyeloneuropathy

Aliases & Descriptions 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 Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skin.

Wikipedia : 71 Adrenoleukodystrophy (/-ˌlu-koʊ-ˈdis-trə-fiː/; also known as X-linked adrenoleukodystrophy, ALD,... 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 spasticity 10.0
4 cerebritis 10.0
5 spastic paraparesis 10.0
6 sclerosing keratitis 10.0 ABCD1 SLC25A17
7 phacomatosis pigmentovascularis 9.9 ABCD1 SLC25A17
8 neuropathy 9.8
9 thrombocytopenia 9.7
10 autonomic neuropathy 9.7
11 polyneuropathy 9.7
12 hypothyroidism 9.7
13 cervicitis 9.7
14 paraplegia 9.7
15 neuronitis 9.7
16 agammaglobulinemia, non-bruton type 9.2 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 94)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
2
Busulfan Approved, Investigational Phase 2, 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, 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 Prednisolone acetate Phase 2, Phase 3
10 Alkylating Agents Phase 2, Phase 3
11 Cholic Acids Phase 3
12 Gastrointestinal Agents Phase 3
13 Trace Elements Phase 2, Phase 3,Phase 1
14 Vitamin B Complex Phase 2, Phase 3
15 Vitamins Phase 2, Phase 3,Phase 1
16 Hypolipidemic Agents Phase 3
17 Prednisolone hemisuccinate Phase 2, Phase 3
18 Prednisolone phosphate Phase 2, Phase 3
19 Immunosuppressive Agents Phase 2, Phase 3
20 Antilymphocyte Serum Phase 2, Phase 3
21 Liver Extracts Phase 3
22 Lipid Regulating Agents Phase 3
23 Antimetabolites Phase 3,Phase 2
24 Methylprednisolone acetate Phase 2, Phase 3
25 Methylprednisolone Hemisuccinate Phase 2, Phase 3
26 Micronutrients Phase 2, Phase 3,Phase 1
27 Antirheumatic Agents Phase 2, Phase 3
28 Antineoplastic Agents, Alkylating Phase 2, Phase 3
29 Bile Acids and Salts Phase 3
30 Pharmaceutical Solutions Phase 2, Phase 3
31 Folate Nutraceutical Phase 2, Phase 3
32 Vitamin B9 Nutraceutical Phase 2, Phase 3
33 Vitamin B7 Nutraceutical Phase 2, Phase 3
34
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
35
Melphalan Approved Phase 2 148-82-3 4053 460612
36
Mycophenolic acid Approved Phase 2 24280-93-1 446541
37
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
38
Hydroxyurea Approved Phase 2 127-07-1 3657
39
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
40
alemtuzumab Approved, Investigational Phase 2 216503-57-0
41
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
42
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
43
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
44
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
45
Acetaminophen Approved Phase 2 103-90-2 1983
46
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
47
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
48
Vidarabine Approved Phase 2 24356-66-9 32326 21704
49
rituximab Approved Phase 2 174722-31-7 10201696
50
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100

Interventional clinical trials:

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

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, Skin, Pituitary, Cortex, Skeletal Muscle

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
Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes. ( 27068048 )
2016
3
Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon. ( 27423567 )
2016
4
MicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy. ( 26843114 )
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
Abadie's sign in adrenomyeloneuropathy. ( 24726718 )
2014
9
Adrenomyeloneuropathy with bulbar palsy: A rare association. ( 25221415 )
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
Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene. ( 24685009 )
2014
13
Adrenomyeloneuropathy presenting with adrenal insufficiency. ( 24020038 )
2013
14
Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit". ( 24018110 )
2013
15
Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit. ( 22795299 )
2013
16
Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy. ( 22048970 )
2012
17
Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy. ( 23009600 )
2012
18
Adrenomyeloneuropathy. ( 23405547 )
2012
19
Strength: a relevant link to functional performance in the neurodegenerative disease of adrenomyeloneuropathy. ( 22544816 )
2012
20
Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid--a case report. ( 21871076 )
2011
21
Is subclinical adrenal failure in adrenoleukodystrophy/adrenomyeloneuropathy reversible? ( 21399389 )
2011
22
X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy. ( 22176151 )
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
Prominent brain axonal damage and functional reorganization in "pure" adrenomyeloneuropathy. ( 17875914 )
2007
29
A novel ABCD1 gene mutation in a Chinese-Taiwanese patient with adrenomyeloneuropathy. ( 17509471 )
2007
30
The neuropsychiatry of adrenomyeloneuropathy. ( 17805216 )
2007
31
Transcranial magnetic stimulation after conditioning stimulation in two adrenomyeloneuropathy patients: delayed but facilitated motor-evoked potentials. ( 17049132 )
2006
32
Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis. ( 16672758 )
2006
33
Sensorimotor function and axonal integrity in adrenomyeloneuropathy. ( 16401738 )
2006
34
Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy. ( 15911801 )
2005
35
Adrenal steroids in adrenomyeloneuropathy. Dehydroepiandrosterone sulfate, androstenedione and 17alpha-hydroxyprogesterone. ( 16362829 )
2005
36
Spinal cord atrophy in adrenomyeloneuropathy. ( 16009777 )
2005
37
Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathy. ( 16240348 )
2005
38
Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy. ( 15668429 )
2005
39
Plasma levels of adrenomedullin in patients with adrenoleukodystrophy/adrenomyeloneuropathy. ( 15711093 )
2005
40
Adrenomyeloneuropathy. ( 16121813 )
2005
41
Adrenomyeloneuropathy: report of a new mutation in a French Canadian female. ( 16018167 )
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
Clinical and electrophysiological improvement of adrenomyeloneuropathy with steroid treatment. ( 12754367 )
2003
45
A randomized controlled study of modified cobratoxin in adrenomyeloneuropathy. ( 12939429 )
2003
46
Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. ( 11875044 )
2002
47
Adrenomyeloneuropathy partially responsive to steroid pulse therapy. ( 12391499 )
2002
48
Brain dysfunction explored by long latency reflex: a study of adrenomyeloneuropathy. ( 11493228 )
2001
49
A case of adrenomyeloneuropathy with unusual lesion pattern in magnetic resonance imaging. ( 11374105 )
2001
50
The dorsal root ganglia in adrenomyeloneuropathy: neuronal atrophy and abnormal mitochondria. ( 11379824 )
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

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