AMN
MCID: ADR022
MIFTS: 39

Adrenomyeloneuropathy (AMN)

Categories: Endocrine diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Adrenomyeloneuropathy

MalaCards integrated aliases for Adrenomyeloneuropathy:

Name: Adrenomyeloneuropathy 53 72
Adrenoleukodystrophy 72
Amn 53

Classifications:



External Ids:

UMLS 72 C0162309 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 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 Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and bone marrow.

Wikipedia : 75 Adrenoleukodystrophy (ALD) 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 top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 adrenoleukodystrophy 12.5
2 megaloblastic anemia 1 12.3
3 megaloblastic anemia 11.9
4 vitamin b12 deficiency 11.7
5 3-methylglutaconic aciduria, type i 11.4
6 donnai-barrow syndrome 11.3
7 vitamin metabolic disorder 11.3
8 congenital intrinsic factor deficiency 11.3
9 childhood-onset cerebral x-linked adrenoleukodystrophy 11.2
10 spastic paraparesis 10.8
11 neuropathy 10.7
12 peripheral nervous system disease 10.7
13 premature ovarian failure 7 10.5
14 impotence 10.5
15 paraplegia 10.5
16 ataxia and polyneuropathy, adult-onset 10.4
17 hypogonadism 10.4
18 hypogonadotropism 10.4
19 spasticity 10.3
20 primary adrenal insufficiency 10.3
21 renal oncocytoma 10.3
22 autosomal recessive disease 10.3
23 measles 10.3
24 polyneuropathy 10.3
25 hereditary spastic paraplegia 10.3
26 pituitary gland disease 10.2
27 hypoadrenalism 10.2
28 acute adrenal insufficiency 10.2
29 brucellosis 10.2
30 hypoadrenocorticism, familial 10.1
31 aceruloplasminemia 10.1
32 neurogenic bladder 10.1
33 acute cystitis 10.1
34 hypothyroidism 10.1
35 thrombocytopenia 10.1
36 testicular disease 10.1
37 inherited metabolic disorder 10.1
38 peroxisomal disease 10.1
39 pathologic nystagmus 10.1
40 charcot-marie-tooth disease, demyelinating, type 1a 10.0
41 hypercholesterolemia, familial, 1 10.0
42 thymoma, familial 10.0
43 pain agnosia 10.0
44 typhoid fever 10.0
45 viral hepatitis 10.0
46 macrocytic anemia 10.0
47 thymoma 10.0
48 poliomyelitis 10.0
49 stomatitis 10.0
50 aphthous stomatitis 10.0

Graphical network of the top 20 diseases related to Adrenomyeloneuropathy:



Diseases related to Adrenomyeloneuropathy

Symptoms & Phenotypes for Adrenomyeloneuropathy

UMLS symptoms related to Adrenomyeloneuropathy:


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

Interventional clinical trials:

(show all 48)
# 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 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
9 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
10 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
11 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
12 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
13 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
14 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
15 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
16 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
17 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)
18 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
19 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤40 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
20 Effect of Pioglitazone Administered to Patients With Adrenomyeloneuropathy: a Phase II, Single-arm, Multicentric Clinical Trial Active, not recruiting NCT03864523 Phase 2 Pioglitazone
21 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
22 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)
23 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
24 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
25 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1
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 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
28 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
29 MT2014-14 Intrathecal Administration of Mesenchymal Stem Cells (IT-MSC) for the Treatment of Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
30 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044
31 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
32 Effect of Bezafibrate on Very Long Chain Fatty Acid Metabolism in Men With X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Bezafibrate
33 A Pilot Study of Repetitive Transcranial Magnetic Stimulation for Improvement of Gait in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416
34 Exercise Study of Function and Pathology for Women With X-ALD Completed NCT01594853
35 Newborn Screening for Adrenoleukodystrophy Completed NCT02952482
36 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
37 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
38 Unrelated Donor Bone Marrow Transplantation for Definitive Treatment of Patients With Phosphoglycerate Kinase (PGK) Deficiency Completed NCT00592540
39 Lentiviral Gene Therapy for X-linked Adrenoleukodystrophy (X-ALD) Recruiting NCT03727555
40 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 Recruiting NCT02204904
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 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
44 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
45 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
46 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil
47 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol
48 Early Diagnosis Of Childhood Cerebral Adrenoleukodystrophy Withdrawn NCT02948062

Search NIH Clinical Center for Adrenomyeloneuropathy

Genetic Tests for Adrenomyeloneuropathy

Anatomical Context for Adrenomyeloneuropathy

MalaCards organs/tissues related to Adrenomyeloneuropathy:

41
Brain, Bone, Bone Marrow, Skin, Spinal Cord, Liver, Testes

Publications for Adrenomyeloneuropathy

Articles related to Adrenomyeloneuropathy:

(show top 50) (show all 2065)
# Title Authors PMID Year
1
SIRT1 activation alleviates brain microvascular endothelial dysfunction in peroxisomal disorders. 38
31257461 2019
2
Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years. 38
31418856 2019
3
Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies. 38
31113002 2019
4
Teaching NeuroImages: X-linked adrenoleukodystrophy: Spinocerebellar variant. 38
31405945 2019
5
Early Onset Primary Adrenal Insufficiency in Males with Adrenoleukodystrophy: Case Series and Literature Review. 38
31101408 2019
6
Flow injection ionization-tandem mass spectrometry-based estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy. 38
30980791 2019
7
Thermogenic flux induced by lignoceric acid in peroxisomes isolated from HepG2 cells and from X-adrenoleukodystrophy and control fibroblasts. 38
30932193 2019
8
The experience of allogeneic hematopoietic stem cell transplantation in a patient with X-linked adrenoleukodystrophy. 38
31350055 2019
9
A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy. 38
31074578 2019
10
Selective receptor-mediated impairment of growth factor activity in neonatal- and X-linked adrenoleukodystrophy patients. 38
31194684 2019
11
X-linked Adrenoleukodystrophy: Atypical Clinico-Radiological Presentation. 38
30847867 2019
12
Pearls & Oy-sters: Adolescent-onset adrenomyeloneuropathy and arrested cerebral adrenoleukodystrophy. 38
31285402 2019
13
Generalized skin hyperpigmentation as the only manifestation of X-linked adrenoleukodystrophy. 38
31269232 2019
14
Gene therapy for neurological disorders: challenges and recent advancements. 38
31195838 2019
15
[Adrenoleukodystrophy with onset of the symptoms of attention deficit hyperactivity disorder]. 38
31216809 2019
16
Etiology of primary adrenal insufficiency in children: a 29-year single-center experience. 38
31141483 2019
17
Microglia damage precedes major myelin breakdown in X-linked adrenoleukodystrophy and metachromatic leukodystrophy. 38
30980503 2019
18
Cerebral adrenoleukodystrophy is associated with loss of tolerance to profilin. 38
30829395 2019
19
[Haploidentical allogenetic hematopoietic stem cell transplantation for X-linked adrenoleukodystrophy]. 38
31209410 2019
20
X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES. 38
31241695 2019
21
Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia. 38
31227335 2019
22
Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy. 38
31133696 2019
23
A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report. 38
30343438 2019
24
CRISPR/Cas9-mediated knockout of Abcd1 and Abcd2 genes in BV-2 cells: novel microglial models for X-linked Adrenoleukodystrophy. 38
30769094 2019
25
Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy. 38
30358470 2019
26
Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study. 38
31077039 2019
27
MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy. 38
30902905 2019
28
Measuring early lesion growth in boys with cerebral demyelinating adrenoleukodystrophy. 38
30902909 2019
29
Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy. 38
30932272 2019
30
PPAR-δ and erucic acid in multiple sclerosis and Alzheimer's Disease. Likely benefits in terms of immunity and metabolism. 38
30738994 2019
31
Generation of an induced pluripotent stem cell (iPSC) line from a 42-year-old adult cerebral type X-linked adrenoleukodystrophy (X-ALD) patient. 38
30921588 2019
32
Late onset adrenoleukodystrophy: A review related clinical case report. 38
30671550 2019
33
A Distinct Clinical Phenotype in Two Siblings with X-linked Adrenoleukodystrophy. 38
31184821 2019
34
Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation. 38
30292747 2019
35
Successful donor engraftment and repair of the blood-brain barrier in cerebral adrenoleukodystrophy. 38
30635285 2019
36
Allogeneic stem cell transplantation with reduced intensity conditioning for patients with adrenoleukodystrophy. 38
30519529 2019
37
Allogeneic hematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X-linked adrenoleukodystrophy. 38
30746707 2019
38
Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging. 38
30546814 2019
39
[The Long-Term Care Experiences and Care Needs of Parents Caring for Children With Adrenoleukodystrophy]. 38
30648243 2019
40
Disease progression in women with X-linked adrenoleukodystrophy is slow. 38
30732635 2019
41
Late Mortality after Allogeneic Blood or Marrow Transplantation for Inborn Errors of Metabolism: A Report from the Blood or Marrow Transplant Survivor Study-2 (BMTSS-2). 38
30292746 2019
42
Perioperative management of a female diagnosed with heterozygous X-linked adrenoleukodystrophy scheduled for shoulder arthroscopy. 38
30447897 2019
43
Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan. 38
30237433 2019
44
Natural history of a cohort of ABCD1 variant female carriers. 38
30295399 2019
45
Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness. 38
30535170 2019
46
Exogenous Addition of 25-Hydroxycholesterol Reduces Level of Very Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy. 38
30788208 2019
47
Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance. 38
30658899 2019
48
Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases. 38
30787906 2019
49
Characteristics of Japanese patients with X-linked adrenoleukodystrophy and concerns of their families from the 1st registry system. 38
30077509 2019
50
Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders. 38
30295825 2019

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 CGA ADM
2 11.05 SLC25A17 AMACR ABCD1
3
Show member pathways
10.52 SLC25A17 AMACR ABCD1

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 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

Sources for Adrenomyeloneuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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