MCID: PRX034
MIFTS: 30

Peroxisome Disorders

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Peroxisome Disorders

MalaCards integrated aliases for Peroxisome Disorders:

Name: Peroxisome Disorders 54
Disorder of Peroxisomal Function 54
Peroxisomal Disorders 74
Peroxisomal Disease 54
Peroxisomal Defects 54
Peroxisome Diseases 54

Classifications:



External Ids:

UMLS 74 C0282528

Summaries for Peroxisome Disorders

MalaCards based summary : Peroxisome Disorders, also known as disorder of peroxisomal function, is related to peroxisomal disease and peroxisome biogenesis disorder 1a. An important gene associated with Peroxisome Disorders is PEX11B (Peroxisomal Biogenesis Factor 11 Beta). The drugs Colchicine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and liver.

Wikipedia : 77 A peroxisome (IPA: [pɛɜˈɹɒksɪˌsoʊm]) is a type of organelle known as a microbody, found in virtually all... more...

Related Diseases for Peroxisome Disorders

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 peroxisomal disease 12.1
2 peroxisome biogenesis disorder 1a 11.4
3 adrenoleukodystrophy 11.3
4 refsum disease, classic 11.3
5 rhizomelic chondrodysplasia punctata, type 3 11.2
6 peroxisomal fatty acyl-coa reductase 1 disorder 11.1
7 d-bifunctional protein deficiency 11.1
8 peroxisomal acyl-coa oxidase deficiency 11.1
9 alpha-methylacyl-coa racemase deficiency 11.1
10 peroxisome biogenesis disorder 14b 11.1
11 pipecolic acidemia 11.0
12 mevalonic aciduria 10.9
13 childhood-onset cerebral x-linked adrenoleukodystrophy 10.9
14 peroxisome biogenesis disorder 2a 10.9
15 rhizomelic chondrodysplasia punctata, type 1 10.9
16 rhizomelic chondrodysplasia punctata, type 2 10.9
17 acatalasemia 10.9
18 peroxisome biogenesis disorder 3a 10.9
19 peroxisome biogenesis disorder 4a 10.9
20 peroxisome biogenesis disorder 5a 10.9
21 peroxisome biogenesis disorder 6a 10.9
22 peroxisome biogenesis disorder 7a 10.9
23 peroxisome biogenesis disorder 8a 10.9
24 peroxisome biogenesis disorder 9b 10.9
25 peroxisome biogenesis disorder 10a 10.9
26 peroxisome biogenesis disorder 11a 10.9
27 peroxisome biogenesis disorder 12a 10.9
28 peroxisome biogenesis disorder 13a 10.9
29 rhizomelic chondrodysplasia punctata, type 5 10.9
30 zellweger syndrome 10.3
31 chondrodysplasia punctata syndrome 10.1
32 rhizomelic chondrodysplasia punctata 10.1
33 peroxisome biogenesis disorder 1b 10.0
34 refsum disease, infantile form 10.0
35 mulibrey nanism 9.9
36 neonatal adrenoleukodystrophy 9.9
37 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.7
38 alacrima, achalasia, and mental retardation syndrome 9.7
39 skin disease 9.7
40 peroxisomal biogenesis disorder 9.7
41 leukodystrophy 9.7
42 cholestasis 9.7
43 epilepsy 9.7
44 lactic acidosis 9.7
45 adrenomyeloneuropathy 9.7
46 lysosomal storage disease 9.7
47 myopathy 9.7

Graphical network of the top 20 diseases related to Peroxisome Disorders:



Diseases related to Peroxisome Disorders

Symptoms & Phenotypes for Peroxisome Disorders

Drugs & Therapeutics for Peroxisome Disorders

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

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 3 64-86-8 6167 2833
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
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
7
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 55-98-1 2478
8
Fludarabine Approved Phase 3,Phase 2,Phase 1 75607-67-9, 21679-14-1 30751
9
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
10
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
11
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
13
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
14 Bile Acids and Salts Phase 3,Not Applicable
15 Cholic Acids Phase 3,Not Applicable
16 Liver Extracts Phase 3
17 Gastrointestinal Agents Phase 3,Not Applicable
18 Lipid Regulating Agents Phase 3,Not Applicable
19 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
20 Hypolipidemic Agents Phase 3,Not Applicable
21 Trace Elements Phase 2, Phase 3,Phase 1
22 Vitamins Phase 2, Phase 3,Phase 1
23 Nutrients Phase 2, Phase 3,Phase 1
24 Vitamin B Complex Phase 2, Phase 3
25 Vitamin B9 Phase 2, Phase 3
26 Folate Phase 2, Phase 3
27 Micronutrients Phase 2, Phase 3,Phase 1
28 Vitamin B7 Phase 2, Phase 3
29 Pharmaceutical Solutions Phase 3,Phase 2
30 Antibodies Phase 3,Phase 2
31 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable
32 Immunoglobulins Phase 3,Phase 2
33 Antibodies, Monoclonal Phase 3,Phase 2
34 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
35 Prednisolone acetate Phase 2, Phase 3
36 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 1,Not Applicable
37 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable
38 Methylprednisolone Acetate Phase 2, Phase 3
39 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
40 Antilymphocyte Serum Phase 2, Phase 3,Phase 1
41
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
42
tannic acid Approved Phase 2,Not Applicable 1401-55-4
43
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
44
Hydroxyurea Approved Phase 2 127-07-1 3657
45
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
46
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
47
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
48
Mesna Approved, Investigational Phase 2 3375-50-6 598
49
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
50
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
2 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
3 MD1003-AMN MD1003 in Adrenomyeloneuropathy Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
4 An Extention Study of Safety of Canakinumab in Japanese Patients With Periodic Fever Syndromes Completed NCT02911857 Phase 3
5 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
6 Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT03852498 Phase 3 Genetic
7 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
8 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
9 Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
10 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
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 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
14 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2 Canakinumab
15 Hydroxychloroquine Administration for Reduction of Pexophagy Recruiting NCT03856866 Phase 2 Hydroxychloroquine;Placebo
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 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases Recruiting NCT03367546 Phase 2
19 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
20 Effect of Pioglitazone Administered to Patients With Adrenomyeloneuropathy 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 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
23 Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Withdrawn NCT03196765 Phase 1, Phase 2 Sobetirome (NV1205)
24 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1
25 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
26 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
27 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
28 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
29 Study of Protein Translocation in Patients With Beta-Oxidation Disorders Unknown status NCT00004348
30 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044 Not Applicable
31 Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency Unknown status NCT00260299
32 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
33 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
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 Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416 Not Applicable
36 Newborn Screening for Adrenoleukodystrophy Completed NCT02952482
37 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853 Not Applicable
38 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
39 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 Not Applicable glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
40 Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases Recruiting NCT03163771
41 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
42 The REPLACE Registry Recruiting NCT03115086
43 Lentiviral Gene Therapy for X-ALD Recruiting NCT03727555 Not Applicable
44 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Recruiting NCT03278899
45 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
46 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
47 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
48 A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) Not yet recruiting NCT03810508
49 Minnesota Adrenoleukodystrophy Registry Study (MARS) and Biobank Not yet recruiting NCT03789721
50 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil

Search NIH Clinical Center for Peroxisome Disorders

Genetic Tests for Peroxisome Disorders

Anatomical Context for Peroxisome Disorders

MalaCards organs/tissues related to Peroxisome Disorders:

42
Brain, Lung, Liver, Bone, Skin, Bone Marrow, Retina

Publications for Peroxisome Disorders

Articles related to Peroxisome Disorders:

(show top 50) (show all 185)
# Title Authors Year
1
Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders. ( 30295825 )
2019
2
Plasma lipidomics as a diagnostic tool for peroxisomal disorders. ( 29209936 )
2018
3
Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment. ( 29438773 )
2018
4
Clinical and Neuroimaging Spectrum of Peroxisomal Disorders. ( 30086110 )
2018
5
The many faces of peroxisomal disorders: Lessons from a large Arab cohort. ( 30561787 )
2018
6
Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. ( 28566232 )
2017
7
Clinical and Laboratory Diagnosis of Peroxisomal Disorders. ( 28409475 )
2017
8
From peroxisomal disorders to common neurodegenerative diseases - the role of ether phospholipids in the nervous system. ( 28796901 )
2017
9
Safety of long-term restrictive diets for peroxisomal disorders: vitamin and trace element status of patients treated for Adult Refsum Disease. ( 26799636 )
2016
10
Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders. ( 27089543 )
2016
11
Hepatic dysfunction in peroxisomal disorders. ( 26453805 )
2016
12
The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders. ( 26943801 )
2016
13
A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pressure chemical ionization-tandem mass spectrometry. ( 27189059 )
2016
14
Reactive nitrogen species mediate oxidative stress and astrogliosis provoked by in vivo administration of phytanic acid in cerebellum of adolescent rats: A potential contributing pathomechanism of cerebellar injury in peroxisomal disorders. ( 26188285 )
2015
15
Peroxisomal Disorders: A Review on Cerebellar Pathologies. ( 26201894 )
2015
16
Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters. ( 26674249 )
2015
17
Peroxisomal disorders. ( 23622381 )
2013
18
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
19
MRI as diagnostic tool in early-onset peroxisomal disorders. ( 22459681 )
2012
20
Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders. ( 22483868 )
2012
21
Evidence of oxidative stress in peroxisomal disorders. ( 23023904 )
2012
22
Phytanic acid and pristanic acid, branched-chain fatty acids associated with Refsum disease and other inherited peroxisomal disorders, mediate intracellular Ca2+ signaling through activation of free fatty acid receptor GPR40. ( 21570468 )
2011
23
Pristanic acid promotes oxidative stress in brain cortex of young rats: a possible pathophysiological mechanism for brain damage in peroxisomal disorders. ( 21241675 )
2011
24
Peroxisomal disorders with infantile seizures. ( 21397417 )
2011
25
Peroxisomes and peroxisomal disorders: the main facts. ( 19740638 )
2010
26
Determination of pipecolic acid following trimethylsilyl and trifluoroacyl derivatisation on plasma filter paper by stable isotope GC-MS for peroxisomal disorders. ( 20195834 )
2010
27
Myelin lesions associated with lysosomal and peroxisomal disorders. ( 20819015 )
2010
28
Organelle interplay in peroxisomal disorders. ( 19560974 )
2009
29
Peroxisomal and mitochondrial status of two murine oligodendrocytic cell lines (158N, 158JP): potential models for the study of peroxisomal disorders associated with dysmyelination processes. ( 19659692 )
2009
30
Serum very-long-chain fatty acids levels determined by gas chromatography in the diagnosis of peroxisomal disorders in Poland. ( 20054782 )
2009
31
Investigational methods for peroxisomal disorders. ( 18633975 )
2008
32
Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders. ( 18441019 )
2008
33
Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. ( 17956237 )
2007
34
High incidence of hyperoxaluria in generalized peroxisomal disorders. ( 16621644 )
2006
35
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. ( 16828324 )
2006
36
Peroxisomal disorders: the single peroxisomal enzyme deficiencies. ( 17055078 )
2006
37
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection. ( 15635073 )
2005
38
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ( 15679822 )
2005
39
Metabolic and molecular basis of peroxisomal disorders: a review. ( 15098234 )
2004
40
Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders. ( 15234336 )
2004
41
Mass spectrometric analysis of ceramide perturbations in brain and fibroblasts of mice and human patients with peroxisomal disorders. ( 15282781 )
2004
42
Peroxisomes, lipid metabolism, and peroxisomal disorders. ( 15464416 )
2004
43
Human peroxisomal disorders. ( 12740827 )
2003
44
Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders. ( 13129591 )
2003
45
Measurement of plasma pristanic, phytanic and very long chain fatty acids by liquid chromatography-electrospray tandem mass spectrometry for the diagnosis of peroxisomal disorders. ( 14630371 )
2003
46
Phenotypic variability (heterogeneity) of peroxisomal disorders. ( 14713208 )
2003
47
Lessons from knockout mice II: Mouse models for peroxisomal disorders with single protein deficiency. ( 14713223 )
2003
48
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. ( 11893780 )
2002
49
Peroxisomal disorders. ( 12069541 )
2002
50
RNA interference of peroxisome-related genes in C. elegans: a new model for human peroxisomal disorders. ( 12181365 )
2002

Variations for Peroxisome Disorders

Expression for Peroxisome Disorders

Search GEO for disease gene expression data for Peroxisome Disorders.

Pathways for Peroxisome Disorders

GO Terms for Peroxisome Disorders

Sources for Peroxisome Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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