MCID: PRX034
MIFTS: 27

Peroxisome Disorders

Categories: Rare diseases

Aliases & Classifications for Peroxisome Disorders

MalaCards integrated aliases for Peroxisome Disorders:

Name: Peroxisome Disorders 53
Disorder of Peroxisomal Function 53
Peroxisomal Disorders 73
Peroxisomal Disease 53
Peroxisomal Defects 53
Peroxisome Diseases 53

Classifications:



Summaries for Peroxisome Disorders

MalaCards based summary : Peroxisome Disorders, also known as disorder of peroxisomal function, is related to peroxisomal disease and refsum disease, classic. An important gene associated with Peroxisome Disorders is PEX11B (Peroxisomal Biogenesis Factor 11 Beta). The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow.

Wikipedia : 76 A peroxisome... more...

Related Diseases for Peroxisome Disorders

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 peroxisomal disease 11.9
2 refsum disease, classic 11.1
3 adrenoleukodystrophy 11.1
4 rhizomelic chondrodysplasia punctata 11.1
5 rhizomelic chondrodysplasia punctata, type 3 11.1
6 peroxisomal fatty acyl-coa reductase 1 disorder 10.9
7 peroxisome biogenesis disorder 14b 10.9
8 alpha-methylacyl-coa racemase deficiency 10.9
9 peroxisome biogenesis disorder 1a 10.9
10 d-bifunctional protein deficiency 10.9
11 peroxisomal acyl-coa oxidase deficiency 10.9
12 peroxisome biogenesis disorder 12a 10.7
13 peroxisome biogenesis disorder 13a 10.7
14 acatalasemia 10.7
15 rhizomelic chondrodysplasia punctata, type 5 10.7
16 peroxisome biogenesis disorder 3a 10.7
17 peroxisome biogenesis disorder 4a 10.7
18 peroxisome biogenesis disorder 2a 10.7
19 peroxisome biogenesis disorder 5a 10.7
20 rhizomelic chondrodysplasia punctata, type 1 10.7
21 peroxisome biogenesis disorder 6a 10.7
22 peroxisome biogenesis disorder 7a 10.7
23 rhizomelic chondrodysplasia punctata, type 2 10.7
24 peroxisome biogenesis disorder 8a 10.7
25 peroxisome biogenesis disorder 9b 10.7
26 peroxisome biogenesis disorder 10a 10.7
27 peroxisome biogenesis disorder 11a 10.7
28 zellweger syndrome 10.1
29 chondrodysplasia punctata syndrome 10.0
30 refsum disease, infantile form 9.8
31 peroxisome biogenesis disorder 1b 9.8
32 mulibrey nanism 9.7
33 neonatal adrenoleukodystrophy 9.7
34 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.6
35 alacrima, achalasia, and mental retardation syndrome 9.6
36 cataract 9.6
37 hepatitis 9.6
38 skin disease 9.6
39 epilepsy 9.6
40 lactic acidosis 9.6
41 peroxisomal biogenesis disorders 9.6

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 91)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3 50-18-0, 6055-19-2 2907
2
Busulfan Approved, Investigational Phase 2, Phase 3,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, Investigational Phase 2, Phase 3 56-81-5 753
6
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
7
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
9 Prednisolone acetate Phase 2, Phase 3
10 Alkylating Agents Phase 2, Phase 3,Not Applicable
11 Methylprednisolone acetate Phase 2, Phase 3
12 Methylprednisolone Hemisuccinate Phase 2, Phase 3
13 Micronutrients Phase 2, Phase 3,Phase 1
14 Cholic Acids Phase 3,Not Applicable
15 Gastrointestinal Agents Phase 3,Not Applicable
16 Trace Elements Phase 2, Phase 3,Phase 1
17 Vitamin B Complex Phase 2, Phase 3
18 Hypolipidemic Agents Phase 3,Not Applicable
19 Vitamins Phase 2, Phase 3,Phase 1
20 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
21 Prednisolone hemisuccinate Phase 2, Phase 3
22 Prednisolone phosphate Phase 2, Phase 3
23 Liver Extracts Phase 3
24 Lipid Regulating Agents Phase 3,Not Applicable
25 Antilymphocyte Serum Phase 2, Phase 3
26 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
27 Antimetabolites Phase 3,Phase 2,Not Applicable
28 Bile Acids and Salts Phase 3,Not Applicable
29 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
30 Pharmaceutical Solutions Phase 2, Phase 3
31 Folate Nutraceutical Phase 2, Phase 3
32 Vitamin B7 Nutraceutical Phase 2, Phase 3
33 Vitamin B9 Nutraceutical Phase 2, Phase 3
34
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
35
Hydroxyurea Approved Phase 2 127-07-1 3657
36
Mesna Approved, Investigational Phase 2 3375-50-6 598
37
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
38
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
39
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
40
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
41
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
42
Mycophenolate mofetil Approved, Investigational Phase 2,Not Applicable 128794-94-5 5281078
43
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
44
rituximab Approved Phase 2 174722-31-7 10201696
45
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
46
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
47
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
48
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
49 tannic acid Approved, Nutraceutical Phase 2,Not Applicable
50
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985

Interventional clinical trials:

(show all 45)
# 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 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
5 A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. Recruiting NCT03231878 Phase 2, Phase 3 MIN-102;Placebos
6 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
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 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
10 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
11 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
12 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2 Canakinumab
13 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)
14 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
15 Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Recruiting NCT03196765 Phase 1, Phase 2 Sobetirome (NV1205)
16 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1, Phase 2
17 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
18 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
19 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases Not yet recruiting NCT03367546 Phase 2
20 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
21 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
22 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
23 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
24 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
25 Study of Protein Translocation in Patients With Beta-Oxidation Disorders Unknown status NCT00004348
26 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044 Not Applicable
27 Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency Unknown status NCT00260299
28 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
29 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
30 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853 Not Applicable
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 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 Not Applicable glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
33 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Recruiting NCT03440905
34 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
35 The REPLACE Registry Recruiting NCT03115086
36 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Recruiting NCT03278899
37 Newborn Screening for Adrenoleukodystrophy Recruiting NCT02952482
38 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
39 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
40 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
41 Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases Not yet recruiting NCT03163771
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
45 B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency Withdrawn NCT01568736

Search NIH Clinical Center for Peroxisome Disorders

Genetic Tests for Peroxisome Disorders

Anatomical Context for Peroxisome Disorders

MalaCards organs/tissues related to Peroxisome Disorders:

41
Liver, Bone, Bone Marrow, Skin

Publications for Peroxisome Disorders

Articles related to Peroxisome Disorders:

(show top 50) (show all 68)
# Title Authors Year
1
Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. ( 28566232 )
2017
2
Safety of long-term restrictive diets for peroxisomal disorders: vitamin and trace element status of patients treated for Adult Refsum Disease. ( 26799636 )
2016
3
Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders. ( 27089543 )
2016
4
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. ( 25439727 )
2014
5
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
6
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
7
Visual follow-up in peroxisomal-disorder patients treated with docosahexaenoic Acid ethyl ester. ( 19933185 )
2010
8
Investigational methods for peroxisomal disorders. ( 18633975 )
2008
9
Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. ( 17956237 )
2007
10
High incidence of hyperoxaluria in generalized peroxisomal disorders. ( 16621644 )
2006
11
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
12
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
13
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ( 15679822 )
2005
14
Metabolic and molecular basis of peroxisomal disorders: a review. ( 15098234 )
2004
15
Mulibrey nanism--a novel peroxisomal disorder. ( 14713209 )
2003
16
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. ( 11948235 )
2002
17
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. ( 11893780 )
2002
18
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. ( 11938494 )
2002
19
Peroxisomal disorders. ( 11723389 )
2001
20
Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts. ( 10683770 )
1999
21
The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder. ( 10088993 )
1999
22
Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders. ( 10384985 )
1999
23
Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families. ( 10405451 )
1999
24
X-linked dominant chondrodysplasia punctata: a peroxisomal disorder? ( 9677071 )
1998
25
Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders. ( 9565335 )
1998
26
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. ( 9686383 )
1998
27
New insights in peroxisomal beta-oxidation. Implications for human peroxisomal disorders. ( 9803880 )
1998
28
[Molecular analysis of peroxisomal disorders]. ( 9545777 )
1998
29
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. ( 9843043 )
1998
30
On the molecular etiology of decreased arachidonic (20:4n-6), docosapentaenoic (22:5n-6) and docosahexaenoic (22:6n-3) acids in Zellweger syndrome and other peroxisomal disorders. ( 9062899 )
1997
31
D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder. ( 9345094 )
1997
32
Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders. ( 9266692 )
1997
33
Peroxisomal disorders: clinical aspects. ( 8993563 )
1996
34
Studies on the degradation of [U-3H]-phytanic acid and [U-3H]-pristanic acid in cultured fibroblasts from children with peroxisomal disorders. ( 8761525 )
1996
35
Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders. ( 8521871 )
1995
36
Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders. ( 7790377 )
1995
37
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. ( 7533834 )
1995
38
Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders. ( 8597837 )
1995
39
Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder. ( 7807941 )
1994
40
[Liver pathologies due to peroxisome disorders]. ( 8184191 )
1994
41
A new type of peroxisomal disorder with variable expression in liver and fibroblasts. ( 7931872 )
1994
42
Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes. ( 8059925 )
1994
43
Peroxisome disorders and cutaneous manifestations. ( 8305747 )
1994
44
Blood polyunsaturated fatty acids in patients with peroxisomal disorders. A multicenter study. ( 8177020 )
1994
45
Presence of cytoplasmic factors functional in peroxisomal protein import implicates organelle-associated defects in several human peroxisomal disorders. ( 7693762 )
1993
46
Peroxisomal disorders in children: immunohistochemistry and neuropathology. ( 8463903 )
1993
47
Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders. ( 8105143 )
1993
48
Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. ( 1519936 )
1992
49
Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal beta-oxidation of unknown aetiology by means of complementation analysis. ( 1357231 )
1992
50
Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder. ( 1374125 )
1992

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 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
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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