MCID: PRX001
MIFTS: 46

Peroxisomal Disease

Categories: Metabolic diseases

Aliases & Classifications for Peroxisomal Disease

MalaCards integrated aliases for Peroxisomal Disease:

Name: Peroxisomal Disease 12 15
Peroxisomal Disorders 56 45 74
Peroxisomal Disorder 12
Peroxisomal Defects 77

Classifications:



External Ids:

Disease Ontology 12 DOID:906
ICD9CM 36 277.86
MeSH 45 D018901
NCIt 51 C85005
ICD10 34 E71.5 E71.50
UMLS 74 C0282528

Summaries for Peroxisomal Disease

Disease Ontology : 12 An inherited metabolic disorder that involves peroxisome malfunction.

MalaCards based summary : Peroxisomal Disease, also known as peroxisomal disorders, is related to alpha-methylacyl-coa racemase deficiency and acatalasemia. An important gene associated with Peroxisomal Disease is GNPAT (Glyceronephosphate O-Acyltransferase), and among its related pathways/superpathways are Metabolism and Peroxisome. The drugs Colchicine and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : 77 Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.... more...

Related Diseases for Peroxisomal Disease

Diseases related to Peroxisomal Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 alpha-methylacyl-coa racemase deficiency 31.6 HSD17B4 PHYH
2 acatalasemia 31.5 CAT PEX5
3 rhizomelic chondrodysplasia punctata, type 3 31.3 AGPS GNPAT PEX5 PEX7
4 d-bifunctional protein deficiency 31.1 CAT HADHB HSD17B4 PEX5
5 refsum disease, classic 31.0 CAT GNPAT HSD17B4 PEX5 PEX7 PHYH
6 peroxisomal acyl-coa oxidase deficiency 30.9 AGXT CAT HSD17B4 PEX5
7 rhizomelic chondrodysplasia punctata 30.8 AGPS GNPAT HADHB PEX5 PEX7 PHYH
8 rhizomelic chondrodysplasia punctata, type 5 30.8 AGPS GNPAT PEX5 PEX7
9 rhizomelic chondrodysplasia punctata, type 2 30.5 AGPS CAT GNPAT PEX5 PEX7 PHYH
10 peroxisome biogenesis disorder 1b 29.8 CAT GNPAT HSD17B4 PEX1 PEX2 PEX5
11 adrenoleukodystrophy 29.7 ABCD1 CAT PEX1 PEX5
12 rhizomelic chondrodysplasia punctata, type 1 29.7 AGPS GNPAT HADHB HSD17B4 PEX2 PEX5
13 chondrodysplasia punctata syndrome 29.6 GNPAT PEX5 PEX7
14 mulibrey nanism 29.2 PEX1 PEX5 PEX7 TRIM37
15 neonatal adrenoleukodystrophy 29.0 CAT PEX1 PEX2 PEX5 PEX7
16 zellweger syndrome 28.7 AGPS GNPAT PEX1 PEX2 PEX5
17 peroxisomal fatty acyl-coa reductase 1 disorder 11.4
18 peroxisome biogenesis disorder 1a 11.4
19 peroxisome biogenesis disorder 5a 11.2
20 peroxisome disorders 11.2
21 peroxisome biogenesis disorder 14b 11.1
22 pipecolic acidemia 11.0
23 mevalonic aciduria 10.9
24 childhood-onset cerebral x-linked adrenoleukodystrophy 10.9
25 peroxisome biogenesis disorder 2a 10.9
26 peroxisome biogenesis disorder 3a 10.9
27 peroxisome biogenesis disorder 4a 10.9
28 peroxisome biogenesis disorder 6a 10.9
29 peroxisome biogenesis disorder 7a 10.9
30 peroxisome biogenesis disorder 8a 10.9
31 peroxisome biogenesis disorder 9b 10.9
32 peroxisome biogenesis disorder 10a 10.9
33 peroxisome biogenesis disorder 11a 10.9
34 peroxisome biogenesis disorder 12a 10.9
35 peroxisome biogenesis disorder 13a 10.9
36 alpha-methylacetoacetic aciduria 10.1 HSD17B4 PEX5
37 adrenomyeloneuropathy 10.1
38 zellweger spectrum disorder 10.1 PEX1 PEX2
39 cerebral degeneration 10.0 ABCD1 PEX5
40 refsum disease, infantile form 10.0
41 primary hyperoxaluria 10.0 AGXT PEX5
42 x-linked recessive disease 9.9 ABCD1 PEX5
43 peroxisome biogenesis disorder 5b 9.9
44 glutaric aciduria iii 9.7
45 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.7
46 alacrima, achalasia, and mental retardation syndrome 9.7
47 cataract 9.7
48 skin disease 9.7
49 peroxisomal biogenesis disorder 9.7
50 leukodystrophy 9.7

Graphical network of the top 20 diseases related to Peroxisomal Disease:



Diseases related to Peroxisomal Disease

Symptoms & Phenotypes for Peroxisomal Disease

MGI Mouse Phenotypes related to Peroxisomal Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.18 ABCD1 AGPS AGXT CAT GNPAT HADHB
2 growth/size/body region MP:0005378 10.06 GNPAT HADHB HSD17B4 PEX1 PEX2 PEX5
3 endocrine/exocrine gland MP:0005379 10.03 ABCD1 AGPS GNPAT HSD17B4 PEX2 PEX5
4 mortality/aging MP:0010768 10 ABCD1 AGPS CAT GNPAT HADHB HSD17B4
5 liver/biliary system MP:0005370 9.92 HADHB HSD17B4 PEX1 PEX2 PEX5 PEX7
6 nervous system MP:0003631 9.81 ABCD1 GNPAT HSD17B4 PEX1 PEX2 PEX5
7 reproductive system MP:0005389 9.56 ABCD1 AGPS GNPAT HSD17B4 PEX5 PEX7
8 vision/eye MP:0005391 9.1 ABCD1 AGPS GNPAT HSD17B4 PEX1 PEX7

Drugs & Therapeutics for Peroxisomal Disease

Drugs for Peroxisomal Disease (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 2833 6167
2
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3 50-18-0, 6055-19-2 2907
5
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
6
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 55-98-1 2478
7
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
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 Cholic Acids Phase 3,Not Applicable
15 Gastrointestinal Agents Phase 3,Not Applicable
16 Bile Acids and Salts Phase 3,Not Applicable
17 Liver Extracts Phase 3
18 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
19 Lipid Regulating Agents Phase 3,Not Applicable
20 Hypolipidemic Agents Phase 3,Not Applicable
21 Trace Elements Phase 2, Phase 3,Phase 1
22 Vitamin B7 Phase 2, Phase 3
23 Vitamin B Complex Phase 2, Phase 3
24 Vitamins Phase 2, Phase 3,Phase 1
25 Vitamin B9 Phase 2, Phase 3
26 Folate Phase 2, Phase 3
27 Nutrients Phase 2, Phase 3,Phase 1
28 Micronutrients Phase 2, Phase 3,Phase 1
29 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable
30 Pharmaceutical Solutions Phase 3,Phase 2
31 Antibodies, Monoclonal Phase 3,Phase 2
32 Immunoglobulins Phase 3,Phase 2
33 Antibodies Phase 3,Phase 2
34 Prednisolone acetate Phase 2, Phase 3
35 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 1,Not Applicable
36 Methylprednisolone Acetate Phase 2, Phase 3
37 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable
38 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
39 Antilymphocyte Serum Phase 2, Phase 3,Phase 1
40 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
41
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
42
Hydroxyurea Approved Phase 2 127-07-1 3657
43
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
44
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
45
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
46
tannic acid Approved Phase 2,Not Applicable 1401-55-4
47
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
48
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
49
Mesna Approved, Investigational Phase 2 3375-50-6 598
50
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035

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 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
32 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
33 Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416 Not Applicable
34 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
35 Newborn Screening for Adrenoleukodystrophy Completed NCT02952482
36 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853 Not Applicable
37 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
38 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 Not Applicable glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
39 Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases Recruiting NCT03163771
40 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
41 The REPLACE Registry Recruiting NCT03115086
42 Lentiviral Gene Therapy for X-ALD Recruiting NCT03727555 Not Applicable
43 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Recruiting NCT03278899
44 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
45 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
46 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
47 A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) Not yet recruiting NCT03810508
48 Minnesota Adrenoleukodystrophy Registry Study (MARS) and Biobank Not yet recruiting NCT03789721
49 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil
50 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Peroxisomal Disease

Cochrane evidence based reviews: peroxisomal disorders

Genetic Tests for Peroxisomal Disease

Anatomical Context for Peroxisomal Disease

MalaCards organs/tissues related to Peroxisomal Disease:

42
Bone, Skin, Brain, Bone Marrow, Kidney, Retina, Cortex

Publications for Peroxisomal Disease

Articles related to Peroxisomal Disease:

(show top 50) (show all 202)
# 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
Clinical and Laboratory Diagnosis of Peroxisomal Disorders. ( 28409475 )
2017
7
Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. ( 28566232 )
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
Hepatic dysfunction in peroxisomal disorders. ( 26453805 )
2016
11
The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders. ( 26943801 )
2016
12
Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders. ( 27089543 )
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
Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy. ( 25822341 )
2015
15
Violent death in a rare peroxisomal disease--Zellweger syndrome. ( 26235911 )
2015
16
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
17
Peroxisomal Disorders: A Review on Cerebellar Pathologies. ( 26201894 )
2015
18
Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters. ( 26674249 )
2015
19
Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy. ( 23604518 )
2013
20
Peroxisomal disorders. ( 23622381 )
2013
21
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
22
Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders. ( 22483868 )
2012
23
Evidence of oxidative stress in peroxisomal disorders. ( 23023904 )
2012
24
MRI as diagnostic tool in early-onset peroxisomal disorders. ( 22459681 )
2012
25
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
26
Pristanic acid promotes oxidative stress in brain cortex of young rats: a possible pathophysiological mechanism for brain damage in peroxisomal disorders. ( 21241675 )
2011
27
Peroxisomal disorders with infantile seizures. ( 21397417 )
2011
28
Peroxisomes and peroxisomal disorders: the main facts. ( 19740638 )
2010
29
Determination of pipecolic acid following trimethylsilyl and trifluoroacyl derivatisation on plasma filter paper by stable isotope GC-MS for peroxisomal disorders. ( 20195834 )
2010
30
Myelin lesions associated with lysosomal and peroxisomal disorders. ( 20819015 )
2010
31
Organelle interplay in peroxisomal disorders. ( 19560974 )
2009
32
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
33
Serum very-long-chain fatty acids levels determined by gas chromatography in the diagnosis of peroxisomal disorders in Poland. ( 20054782 )
2009
34
Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders. ( 18441019 )
2008
35
Investigational methods for peroxisomal disorders. ( 18633975 )
2008
36
Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. ( 17956237 )
2007
37
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
38
High incidence of hyperoxaluria in generalized peroxisomal disorders. ( 16621644 )
2006
39
Peroxisomal disorders: the single peroxisomal enzyme deficiencies. ( 17055078 )
2006
40
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
41
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ( 15679822 )
2005
42
Metabolic and molecular basis of peroxisomal disorders: a review. ( 15098234 )
2004
43
Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders. ( 15234336 )
2004
44
Mass spectrometric analysis of ceramide perturbations in brain and fibroblasts of mice and human patients with peroxisomal disorders. ( 15282781 )
2004
45
Peroxisomes, lipid metabolism, and peroxisomal disorders. ( 15464416 )
2004
46
Human peroxisomal disorders. ( 12740827 )
2003
47
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
48
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
49
Phenotypic variability (heterogeneity) of peroxisomal disorders. ( 14713208 )
2003
50
Lessons from knockout mice II: Mouse models for peroxisomal disorders with single protein deficiency. ( 14713223 )
2003

Variations for Peroxisomal Disease

Expression for Peroxisomal Disease

Search GEO for disease gene expression data for Peroxisomal Disease.

Pathways for Peroxisomal Disease

GO Terms for Peroxisomal Disease

Cellular components related to Peroxisomal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 9.73 ABCD1 AGPS AGXT CAT GNPAT HSD17B4
2 peroxisomal matrix GO:0005782 9.7 AGPS AGXT CAT GNPAT HSD17B4 PEX7
3 integral component of peroxisomal membrane GO:0005779 9.32 ABCD1 PEX2
4 peroxisomal membrane GO:0005778 9.28 ABCD1 AGPS CAT GNPAT HSD17B4 PEX1
5 cytosol GO:0005829 10 ABCD1 AGPS AGXT CAT GNPAT HSD17B4

Biological processes related to Peroxisomal Disease according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.81 AGPS CAT HSD17B4 PHYH
2 fatty acid metabolic process GO:0006631 9.67 GNPAT HADHB HSD17B4 PHYH
3 protein import into peroxisome matrix GO:0016558 9.56 PEX1 PEX2 PEX5 PEX7
4 peroxisome organization GO:0007031 9.55 ABCD1 PEX1 PEX2 PEX5 PEX7
5 ether lipid biosynthetic process GO:0008611 9.5 AGPS GNPAT PEX7
6 cellular lipid metabolic process GO:0044255 9.49 GNPAT PEX5
7 response to fatty acid GO:0070542 9.48 CAT GNPAT
8 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.46 ABCD1 HSD17B4
9 alpha-linolenic acid metabolic process GO:0036109 9.43 ABCD1 HSD17B4
10 fatty acid beta-oxidation GO:0006635 9.43 ABCD1 HADHB HSD17B4 PEX2 PEX5 PEX7
11 very long-chain fatty acid metabolic process GO:0000038 9.4 HSD17B4 PEX2
12 protein targeting to peroxisome GO:0006625 9.32 AGPS AGXT CAT GNPAT HSD17B4 PEX1

Molecular functions related to Peroxisomal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.67 AGPS CAT HSD17B4 PHYH
2 signaling receptor binding GO:0005102 9.62 AGXT CAT GNPAT HSD17B4
3 enzyme binding GO:0019899 9.56 ABCD1 CAT PEX5 PEX7
4 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.16 HADHB HSD17B4
5 protein homodimerization activity GO:0042803 9.1 ABCD1 AGXT CAT HSD17B4 PEX7 TRIM37
6 long-chain-enoyl-CoA hydratase activity GO:0016508 8.96 HADHB HSD17B4

Sources for Peroxisomal Disease

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
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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