MCID: PRX034
MIFTS: 20

Peroxisome Disorders

Categories: Rare diseases

Aliases & Classifications for Peroxisome Disorders

MalaCards integrated aliases for Peroxisome Disorders:

Name: Peroxisome Disorders 49
Disorder of Peroxisomal Function 49
Peroxisomal Disorders 69
Peroxisomal Disease 49
Peroxisomal Defects 49
Peroxisome Diseases 49

Classifications:



Summaries for Peroxisome Disorders

MalaCards based summary : Peroxisome Disorders, also known as disorder of peroxisomal function, is related to peroxisomal disease and rhizomelic chondrodysplasia punctata. 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 and skin.

Wikipedia : 72 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 11.6
2 rhizomelic chondrodysplasia punctata 11.1
3 refsum disease, classic 11.1
4 adrenoleukodystrophy 11.1
5 rhizomelic chondrodysplasia punctata, type 3 11.1
6 peroxisomal fatty acyl-coa reductase 1 disorder 10.9
7 alpha-methylacyl-coa racemase deficiency 10.9
8 peroxisome biogenesis disorder 1a 10.9
9 d-bifunctional protein deficiency 10.9
10 peroxisomal acyl-coa oxidase deficiency 10.9
11 peroxisome biogenesis disorder 14b 10.9
12 acatalasemia 10.7
13 rhizomelic chondrodysplasia punctata, type 5 10.7
14 peroxisome biogenesis disorder 3a 10.7
15 peroxisome biogenesis disorder 4a 10.7
16 peroxisome biogenesis disorder 2a 10.7
17 peroxisome biogenesis disorder 5a 10.7
18 rhizomelic chondrodysplasia punctata, type 1 10.7
19 peroxisome biogenesis disorder 6a 10.7
20 peroxisome biogenesis disorder 7a 10.7
21 rhizomelic chondrodysplasia punctata, type 2 10.7
22 peroxisome biogenesis disorder 8a 10.7
23 peroxisome biogenesis disorder 9b 10.7
24 peroxisome biogenesis disorder 10a 10.7
25 peroxisome biogenesis disorder 11a 10.7
26 peroxisome biogenesis disorder 12a 10.7
27 peroxisome biogenesis disorder 13a 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 cataract 9.6
35 hepatitis 9.6
36 skin disease 9.6
37 epilepsy 9.6
38 lactic acidosis 9.6
39 peroxisomal biogenesis disorders 9.6
40 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.6
41 alacrima, achalasia, and mental retardation syndrome 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 90)
# 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, Investigational Phase 2, Phase 3 56-81-5 753
6
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
7
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
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 Vitamins Phase 2, Phase 3,Phase 1
19 Hypolipidemic Agents Phase 3,Not Applicable
20 Antilymphocyte Serum Phase 2, Phase 3
21 Prednisolone hemisuccinate Phase 2, Phase 3
22 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
23 Prednisolone phosphate Phase 2, Phase 3
24 Antimetabolites Phase 3,Phase 2,Not Applicable
25 Lipid Regulating Agents Phase 3,Not Applicable
26 Liver Extracts Phase 3
27 Bile Acids and Salts Phase 3,Not Applicable
28 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
29 Pharmaceutical Solutions Phase 2, Phase 3
30 Folate Nutraceutical Phase 2, Phase 3
31 Vitamin B7 Nutraceutical Phase 2, Phase 3
32 Vitamin B9 Nutraceutical Phase 2, Phase 3
33
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
34
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
35
Mycophenolate mofetil Approved, Investigational Phase 2,Not Applicable 128794-94-5 5281078
36
Hydroxyurea Approved Phase 2 127-07-1 3657
37
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
38
Mesna Approved, Investigational Phase 2 3375-50-6 598
39
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
40
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
41
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
42
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
43
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
44
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
45
rituximab Approved Phase 2 174722-31-7 10201696
46 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
47 Tocopherol Approved, Investigational, Nutraceutical Phase 2
48 tannic acid Approved, Nutraceutical Phase 2,Not Applicable
49
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
50
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 1406-16-2

Interventional clinical trials:

(show all 44)

# 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 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
6 A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. Not yet 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 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 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1, Phase 2
15 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, 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 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
18 Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Not yet recruiting NCT03196765 Phase 1, Phase 2 Sobetirome (NV1205)
19 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
20 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
21 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
22 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
23 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
24 Study of Protein Translocation in Patients With Beta-Oxidation Disorders Unknown status NCT00004348
25 B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency Unknown status NCT01568736
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 Early Diagnosis Of Childhood Cerebral ALD Not yet recruiting NCT02948062
43 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil
44 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Peroxisome Disorders

Genetic Tests for Peroxisome Disorders

Anatomical Context for Peroxisome Disorders

MalaCards organs/tissues related to Peroxisome Disorders:

38
Liver, Skin

Publications for Peroxisome Disorders

Articles related to Peroxisome Disorders:

(show top 50) (show all 55)
# Title Authors Year
1
Safety of long-term restrictive diets for peroxisomal disorders: vitamin and trace element status of patients treated for Adult Refsum Disease. ( 26799636 )
2016
2
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. ( 25439727 )
2014
3
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
4
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
5
Visual follow-up in peroxisomal-disorder patients treated with docosahexaenoic Acid ethyl ester. ( 19933185 )
2010
6
Investigational methods for peroxisomal disorders. ( 18633975 )
2008
7
Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. ( 17956237 )
2007
8
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
9
High incidence of hyperoxaluria in generalized peroxisomal disorders. ( 16621644 )
2006
10
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ( 15679822 )
2005
11
Metabolic and molecular basis of peroxisomal disorders: a review. ( 15098234 )
2004
12
Mulibrey nanism--a novel peroxisomal disorder. ( 14713209 )
2003
13
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. ( 11948235 )
2002
14
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. ( 11893780 )
2002
15
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. ( 11938494 )
2002
16
The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder. ( 10088993 )
1999
17
Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts. ( 10683770 )
1999
18
Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders. ( 10384985 )
1999
19
X-linked dominant chondrodysplasia punctata: a peroxisomal disorder? ( 9677071 )
1998
20
Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders. ( 9565335 )
1998
21
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. ( 9843043 )
1998
22
[Molecular analysis of peroxisomal disorders]. ( 9545777 )
1998
23
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. ( 9686383 )
1998
24
New insights in peroxisomal beta-oxidation. Implications for human peroxisomal disorders. ( 9803880 )
1998
25
Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders. ( 9266692 )
1997
26
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
27
D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder. ( 9345094 )
1997
28
Peroxisomal disorders: clinical aspects. ( 8993563 )
1996
29
Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders. ( 8597837 )
1995
30
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. ( 7533834 )
1995
31
Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders. ( 8521871 )
1995
32
Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders. ( 7790377 )
1995
33
Peroxisome disorders and cutaneous manifestations. ( 8305747 )
1994
34
Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes. ( 8059925 )
1994
35
A new type of peroxisomal disorder with variable expression in liver and fibroblasts. ( 7931872 )
1994
36
Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder. ( 7807941 )
1994
37
Peroxisomal disorders in children: immunohistochemistry and neuropathology. ( 8463903 )
1993
38
Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders. ( 8105143 )
1993
39
Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. ( 1519936 )
1992
40
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
41
Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder. ( 1374125 )
1992
42
Fatty acid composition of human myelin proteolipid protein in peroxisomal disorders. ( 1704424 )
1991
43
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data. ( 1750197 )
1991
44
Analysis of very long-chain fatty acids and plasmalogen in the erythrocyte membrane: a simple method for the detection of peroxisomal disorders and discrimination between adrenoleukodystrophy and Zellweger syndrome. ( 2234315 )
1990
45
Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders. ( 1689088 )
1990
46
Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes. ( 2183242 )
1990
47
Mitochondrial oxidation of phytanic acid in human and monkey liver: implication that Refsum's disease is not a peroxisomal disorder. ( 1690986 )
1990
48
Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder. ( 2452040 )
1988
49
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). ( 2894756 )
1988
50
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. ( 2445576 )
1987

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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