MCID: PRX001
MIFTS: 44

Peroxisomal Disease

Categories: Metabolic diseases

Aliases & Classifications for Peroxisomal Disease

MalaCards integrated aliases for Peroxisomal Disease:

Name: Peroxisomal Disease 12 15
Peroxisomal Disorders 55 44 73
Peroxisomal Disorder 12
Peroxisomal Defects 76

Classifications:



External Ids:

Disease Ontology 12 DOID:906
ICD10 33 E71.5 E71.50
ICD9CM 35 277.86
MeSH 44 D018901
NCIt 50 C85005
SNOMED-CT 68 238059005
UMLS 73 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 d-bifunctional protein deficiency. An important gene associated with Peroxisomal Disease is GNPAT (Glyceronephosphate O-Acyltransferase), and among its related pathways/superpathways are Peroxisome and fatty acid beta-oxidation (peroxisome). The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : 76 Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.... more...

Related Diseases for Peroxisomal Disease

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.18 PEX5 HADHB PEX7 HSD17B4 ABCD1 PEX1
2 growth/size/body region MP:0005378 10.06 PEX2 GNPAT PEX5 HADHB HSD17B4 PEX1
3 endocrine/exocrine gland MP:0005379 10.03 GNPAT PEX5 PEX7 HSD17B4 ABCD1 AGPS
4 mortality/aging MP:0010768 9.96 GNPAT PEX5 HADHB HSD17B4 PEX1 AGPS
5 liver/biliary system MP:0005370 9.92 PEX5 HADHB PEX7 HSD17B4 PEX1 PEX2
6 nervous system MP:0003631 9.81 GNPAT PEX5 PEX7 HSD17B4 ABCD1 PEX1
7 reproductive system MP:0005389 9.56 PEX5 PEX7 HSD17B4 ABCD1 AGPS GNPAT
8 vision/eye MP:0005391 9.1 GNPAT HSD17B4 ABCD1 PEX1 AGPS PEX7

Drugs & Therapeutics for Peroxisomal Disease

Drugs for Peroxisomal Disease (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 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
34 The REPLACE Registry Recruiting NCT03115086
35 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Recruiting NCT03440905
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 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:

41
Liver, Bone, Bone Marrow, Skin, Brain

Publications for Peroxisomal Disease

Articles related to Peroxisomal Disease:

(show top 50) (show all 93)
# 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
Violent death in a rare peroxisomal disease-Zellweger syndrome. ( 26235911 )
2015
5
Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy. ( 25822341 )
2015
6
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. ( 25439727 )
2014
7
Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy. ( 23604518 )
2013
8
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
9
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
10
Visual follow-up in peroxisomal-disorder patients treated with docosahexaenoic Acid ethyl ester. ( 19933185 )
2010
11
Investigational methods for peroxisomal disorders. ( 18633975 )
2008
12
Molecular and clinical aspects of peroxisomal diseases. ( 17347916 )
2007
13
Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. ( 17956237 )
2007
14
High incidence of hyperoxaluria in generalized peroxisomal disorders. ( 16621644 )
2006
15
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
16
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
17
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ( 15679822 )
2005
18
Metabolic and molecular basis of peroxisomal disorders: a review. ( 15098234 )
2004
19
Mulibrey nanism--a novel peroxisomal disorder. ( 14713209 )
2003
20
Plasma pipecolic acid is frequently elevated in non-peroxisomal disease. ( 12705501 )
2002
21
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. ( 11948235 )
2002
22
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. ( 11893780 )
2002
23
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. ( 11938494 )
2002
24
Peroxisomal disorders. ( 11723389 )
2001
25
Peroxisomal proliferation induced by treatment with clofibrate in a patient with a peroxisomal disease. ( 11330067 )
2000
26
Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts. ( 10683770 )
1999
27
The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder. ( 10088993 )
1999
28
Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders. ( 10384985 )
1999
29
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. ( 9894883 )
1999
30
Peroxisomal disease--common ground for pediatrician, cell biologist, biochemist, pathologist, and neurologist. ( 10047939 )
1999
31
Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families. ( 10405451 )
1999
32
X-linked dominant chondrodysplasia punctata: a peroxisomal disorder? ( 9677071 )
1998
33
Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders. ( 9565335 )
1998
34
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. ( 9686383 )
1998
35
New insights in peroxisomal beta-oxidation. Implications for human peroxisomal disorders. ( 9803880 )
1998
36
Peroxisomal disease cell lines with cellular plasmalogen deficiency have impaired muscarinic cholinergic signal transduction activity and amyloid precursor protein secretion. ( 9675085 )
1998
37
[Molecular analysis of peroxisomal disorders]. ( 9545777 )
1998
38
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. ( 9843043 )
1998
39
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
40
D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder. ( 9345094 )
1997
41
Biochemical features of a patient with Zellweger-like syndrome with normal PTS-1 and PTS-2 peroxisomal protein import systems: a new peroxisomal disease. ( 9259985 )
1997
42
Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders. ( 9266692 )
1997
43
Peroxisomal disorders: clinical aspects. ( 8993563 )
1996
44
Studies on the degradation of [U-3H]-phytanic acid and [U-3H]-pristanic acid in cultured fibroblasts from children with peroxisomal disorders. ( 8761525 )
1996
45
Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders. ( 8521871 )
1995
46
Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders. ( 7790377 )
1995
47
Polyunsaturated fatty acids in the developing human brain, erythrocytes and plasma in peroxisomal disease: therapeutic implications. ( 9053556 )
1995
48
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. ( 7533834 )
1995
49
Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders. ( 8597837 )
1995
50
Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder. ( 7807941 )
1994

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 mitochondrion GO:0005739 9.91 ABCD1 AGPS AGXT CAT GNPAT HADHB
2 peroxisome GO:0005777 9.73 ABCD1 AGPS AGXT CAT GNPAT HSD17B4
3 peroxisomal matrix GO:0005782 9.7 AGPS AGXT CAT GNPAT HSD17B4 PEX7
4 integral component of peroxisomal membrane GO:0005779 9.32 ABCD1 PEX2
5 peroxisomal membrane GO:0005778 9.23 ABCD1 AGPS CAT GNPAT HSD17B4 PEX1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.8 AGPS HADHB HSD17B4 PHYH
2 fatty acid metabolic process GO:0006631 9.62 GNPAT HADHB HSD17B4 PHYH
3 cellular lipid metabolic process GO:0044255 9.48 GNPAT PEX5
4 response to fatty acid GO:0070542 9.46 CAT GNPAT
5 protein import into peroxisome matrix GO:0016558 9.46 PEX1 PEX2 PEX5 PEX7
6 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.43 ABCD1 HSD17B4
7 ether lipid biosynthetic process GO:0008611 9.43 AGPS GNPAT PEX7
8 alpha-linolenic acid metabolic process GO:0036109 9.4 ABCD1 HSD17B4
9 protein targeting to peroxisome GO:0006625 9.37 PEX1 PEX7
10 peroxisome organization GO:0007031 9.35 ABCD1 PEX1 PEX2 PEX5 PEX7
11 fatty acid beta-oxidation GO:0006635 9.1 ABCD1 HADHB HSD17B4 PEX2 PEX5 PEX7

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.62 AGPS CAT HSD17B4 PHYH
2 signaling receptor binding GO:0005102 9.56 AGXT CAT GNPAT HSD17B4
3 enzyme binding GO:0019899 9.46 ABCD1 CAT PEX5 PEX7
4 protein homodimerization activity GO:0042803 9.1 ABCD1 AGXT CAT HSD17B4 PEX7 TRIM37
5 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.96 HADHB HSD17B4

Sources for Peroxisomal Disease

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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