AMN
MCID: ADR022
MIFTS: 41

Adrenomyeloneuropathy (AMN)

Categories: Endocrine diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Adrenomyeloneuropathy

MalaCards integrated aliases for Adrenomyeloneuropathy:

Name: Adrenomyeloneuropathy 53 73
Adrenoleukodystrophy 73
Amn 53

Classifications:



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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 Methylprednisolone hemisuccinate and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skin.

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

Related Diseases for Adrenomyeloneuropathy

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 94)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3 6055-19-2, 50-18-0 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
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
6
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 55-98-1 2478
7
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
8
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
10
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
11
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
12 Vitamin B7 Phase 2, Phase 3
13 Vitamin B Complex Phase 2, Phase 3
14 Vitamins Phase 2, Phase 3,Phase 1
15 Micronutrients Phase 2, Phase 3,Phase 1
16 Vitamin B9 Phase 2, Phase 3
17 Trace Elements Phase 2, Phase 3,Phase 1
18 Folate Phase 2, Phase 3
19 Bile Acids and Salts Phase 3,Not Applicable
20 Cholic Acids Phase 3,Not Applicable
21 Gastrointestinal Agents Phase 3,Not Applicable
22 Liver Extracts Phase 3
23 Prednisolone acetate Phase 2, Phase 3
24 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
25 Methylprednisolone acetate Phase 2, Phase 3
26 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable
27 Immunologic Factors Phase 2, Phase 3,Phase 1,Not Applicable
28 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 1,Not Applicable
29 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
30 Antilymphocyte Serum Phase 2, Phase 3,Phase 1
31 Lipid Regulating Agents Phase 3,Not Applicable
32 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
33 Hypolipidemic Agents Phase 3,Not Applicable
34 Pharmaceutical Solutions Phase 2, Phase 3
35
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
36
Acetylcysteine Approved, Investigational Phase 2,Phase 1 616-91-1 12035
37
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
38
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
39 tannic acid Approved Phase 2,Not Applicable
40
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
41
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
42
Hydroxyurea Approved Phase 2 127-07-1 3657
43
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
44
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
45
Mesna Approved, Investigational Phase 2 3375-50-6 598
46
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
47
Fludarabine Approved Phase 2,Phase 1 75607-67-9, 21679-14-1 30751
48
rituximab Approved Phase 2 174722-31-7 10201696
49
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
50
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985

Interventional clinical trials:

(show all 44)
# 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) Active, not recruiting NCT01896102 Phase 2, Phase 3
6 A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. Active, not 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 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 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
15 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases Recruiting NCT03367546 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 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation 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 A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of OP-101 After Intravenous Administration in Healthy Volunteers Completed NCT03500627 Phase 1 OP-101
22 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1
23 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
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 Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416 Not Applicable
30 Newborn Screening for Adrenoleukodystrophy Completed NCT02952482
31 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
32 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853 Not Applicable
33 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 Not Applicable glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
34 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
35 Lentiviral Gene Therapy for X-ALD Recruiting NCT03727555 Not Applicable
36 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Recruiting NCT03278899
37 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
38 Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants Available NCT01881334
39 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
40 Minnesota Adrenoleukodystrophy Registry Study (MARS) and Biobank Not yet recruiting NCT03789721
41 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919
42 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil
43 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable chenodeoxycholic acid;cholic acid;ursodiol
44 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, Skin, Cortex, Pituitary, Adrenal Cortex, Skeletal Muscle

Publications for Adrenomyeloneuropathy

Articles related to Adrenomyeloneuropathy:

(show top 50) (show all 411)
# Title Authors Year
1
The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration. ( 30252065 )
2019
2
Allogeneic stem cell transplantation with reduced intensity conditioning for patients with adrenoleukodystrophy. ( 30519529 )
2019
3
Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging. ( 30546814 )
2019
4
Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum. ( 29966135 )
2018
5
A Novel Variant in <i>ABCD1</i> Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia. ( 29740390 )
2018
6
Liquid chromatography-tandem mass spectrometry method for estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy. ( 30018013 )
2018
7
Dendrimer-N-acetyl-L-cysteine modulates monophagocytic response in adrenoleukodystrophy. ( 30069915 )
2018
8
Characteristics of Japanese patients with X-linked adrenoleukodystrophy and concerns of their families from the 1st registry system. ( 30077509 )
2018
9
Allogeneic haematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X-linked adrenoleukodystrophy. ( 30132230 )
2018
10
Anaesthetic management of a child with adrenoleukodystrophy: A case report. ( 30166663 )
2018
11
Adrenoleukodystrophy: Guidance for Adrenal Surveillance in Males Identified by Newborn Screen. ( 30289543 )
2018
12
Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation. ( 30292747 )
2018
13
Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme. ( 30309370 )
2018
14
A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report. ( 30343438 )
2018
15
Perioperative management of a female diagnosed with heterozygous X-linked adrenoleukodystrophy for shoulder arthroscopy. ( 30447897 )
2018
16
Integrative lipidomic and transcriptomic analysis of X-linked adrenoleukodystrophy reveals distinct lipidome signatures between adrenomyeloneuropathy and childhood cerebral adrenoleukodystrophy. ( 30509496 )
2018
17
Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness. ( 30535170 )
2018
18
Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy. ( 30544401 )
2018
19
Gene Therapy for Cerebral Adrenoleukodystrophy. ( 29394476 )
2018
20
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers. ( 29680633 )
2018
21
When multiple sclerosis and X-linked adrenoleukodystrophy are tangled: A challenging case. ( 29708222 )
2018
22
Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review. ( 29909188 )
2018
23
Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy. ( 29997171 )
2018
24
Intrathecal Adeno-Associated Virus Vector-mediated Gene Delivery for Adrenomyeloneuropathy. ( 30358470 )
2018
25
Microglial dysfunction as a key pathological change in adrenomyeloneuropathy. ( 29059709 )
2017
26
Highly asymmetric and subacutely progressive motor weakness with unilateral T2-weighted high intensities along the pyramidal tract in the brainstem in adrenomyeloneuropathy. ( 28991658 )
2017
27
Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN). ( 29065337 )
2017
28
A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene. ( 28456143 )
2017
29
Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis. ( 29243459 )
2017
30
Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy. ( 28375456 )
2017
31
Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia. ( 28481932 )
2017
32
Management of X-linked adrenoleukodystrophy in Morocco: actual situation. ( 29116030 )
2017
33
Adolescent-onset X-linked Adrenoleukodystrophy Presenting as Treatment-resistant Bipolar Disorder. ( 29200571 )
2017
34
MicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy. ( 26843114 )
2016
35
Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon. ( 27423567 )
2016
36
Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes. ( 27068048 )
2016
37
Middle cerebellar peduncle sign in adrenoleukodystrophy. ( 27147183 )
2016
38
Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy. ( 26370417 )
2015
39
Romiplostim mitigates dose-limiting thrombocytopenia of erucic acid for adrenomyeloneuropathy. ( 25854532 )
2015
40
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study. ( 25488625 )
2015
41
Auditory agnosia as a clinical symptom of childhood adrenoleukodystrophy. ( 25544384 )
2015
42
Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China. ( 26260157 )
2015
43
Functional Characterization of IPSC-Derived Brain Cells as a Model for X-Linked Adrenoleukodystrophy. ( 26581106 )
2015
44
The value of the speech audiometry in diagnosis of X-linked adrenoleukodystrophy. ( 29063014 )
2015
45
Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene. ( 24685009 )
2014
46
Abadie's sign in adrenomyeloneuropathy. ( 24726718 )
2014
47
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy. ( 24719134 )
2014
48
Yoga as Therapy for Neurodegenerative Disorders: A Case Report of Therapeutic Yoga for Adrenomyeloneuropathy. ( 26770098 )
2014
49
Adrenomyeloneuropathy with bulbar palsy: A rare association. ( 25221415 )
2014
50
Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy. ( 25378668 )
2014

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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