MCID: PRX077
MIFTS: 40

Peroxisomal Biogenesis Disorders

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Peroxisomal Biogenesis Disorders

MalaCards integrated aliases for Peroxisomal Biogenesis Disorders:

Name: Peroxisomal Biogenesis Disorders 50
Peroxisome Biogenesis Disorders 24 29 52 69
Disorders of Peroxisome Biogenesis 50

Classifications:



Summaries for Peroxisomal Biogenesis Disorders

MalaCards based summary : Peroxisomal Biogenesis Disorders, also known as peroxisome biogenesis disorders, is related to peroxisome biogenesis disorder 1b and peroxisome biogenesis disorder 9b. An important gene associated with Peroxisomal Biogenesis Disorders is PEX6 (Peroxisomal Biogenesis Factor 6), and among its related pathways/superpathways is Peroxisome. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Peroxisomal Biogenesis Disorders

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

(show top 50) (show all 59)
id Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1b 34.1 PEX1 PEX10
2 peroxisome biogenesis disorder 9b 32.4 HSD17B4 PEX12 PEX2 PEX5 PEX7 PHEX
3 rhizomelic chondrodysplasia punctata, type 2 30.6 CAT PEX5 PEX7 PHEX
4 heimler syndrome 1 28.6 CAT HSD17B4 PEX1 PEX10 PEX12 PEX13
5 peroxisome biogenesis disorder 14b 12.5
6 peroxisome biogenesis disorder 4a 12.5
7 peroxisome biogenesis disorder 5a 12.5
8 peroxisome biogenesis disorder 1a 12.4
9 peroxisome biogenesis disorder 2a 12.4
10 peroxisome biogenesis disorder 6a 12.4
11 peroxisome biogenesis disorder 12a 12.4
12 peroxisome biogenesis disorder 11a 12.4
13 peroxisome biogenesis disorder 10a 12.4
14 peroxisome biogenesis disorder 8a 12.4
15 peroxisome biogenesis disorder 7a 12.4
16 peroxisome biogenesis disorder 3a 12.4
17 peroxisome biogenesis disorder 13a 12.4
18 peroxisome biogenesis disorder 6b 12.4
19 peroxisome biogenesis disorder 11b 12.4
20 peroxisome biogenesis disorder 4b 12.4
21 peroxisome biogenesis disorder 5b 12.4
22 peroxisome biogenesis disorder 8b 12.4
23 peroxisome biogenesis disorder 7b 12.4
24 peroxisome biogenesis disorder 2b 12.4
25 peroxisome biogenesis disorder 3b 12.4
26 peroxisome biogenesis disorder 10b 12.3
27 peroxisome biogenesis disorders, zellweger syndrome spectrum 12.3
28 zellweger syndrome 11.8
29 rhizomelic chondrodysplasia punctata, type 1 11.7
30 heimler syndrome 2 11.7
31 adrenoleukodystrophy 11.3
32 refsum disease, infantile form 11.2
33 rhizomelic chondrodysplasia punctata, type 3 10.9
34 refsum disease 10.9
35 neonatal adrenoleukodystrophy 10.9
36 deafness hypospadias metacarpal and metatarsal syndrome 10.5 PEX1 PEX6
37 chronic erosive gastritis 10.4 ABCD1 BCAP31
38 spinocerebellar ataxia, x-linked 1 10.2 ABCD1 BCAP31
39 metaphyseal dysplasia, braun-tinschert type 10.2 PEX5 PEX7
40 bardet-biedl syndrome 5 10.1 PEX5 PEX7
41 growth hormone deficiency, isolated, type ia 10.1 PEX1 PEX5 PEX7
42 congenital disorder of glycosylation, type iig 10.0 CAT HSD17B4 PEX5
43 von willebrand disease, types 2a, 2b, 2m, and 2n 10.0 PEX5 PEX7 PHEX
44 perrault syndrome 1 10.0 CAT HSD17B4 PEX5
45 klippel-feil syndrome 1 10.0 PEX2 PEX6
46 cataract 9.8
47 usher syndrome 9.8
48 rhizomelic chondrodysplasia punctata 9.8
49 neuronitis 9.8
50 peroxisome disorders 9.8

Graphical network of the top 20 diseases related to Peroxisomal Biogenesis Disorders:



Diseases related to Peroxisomal Biogenesis Disorders

Symptoms & Phenotypes for Peroxisomal Biogenesis Disorders

MGI Mouse Phenotypes related to Peroxisomal Biogenesis Disorders:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 PEX13 PEX2 ABCD1 PEX5 HSD17B4 PEX7
2 growth/size/body region MP:0005378 9.96 PEX13 PEX2 PEX3 F2R PEX5 HSD17B4
3 homeostasis/metabolism MP:0005376 9.93 PEX2 ABCD1 PEX3 CAT F2R PEX5
4 liver/biliary system MP:0005370 9.5 PEX2 F2R PEX5 HSD17B4 PEX7 PEX1
5 nervous system MP:0003631 9.32 PEX13 PEX2 ABCD1 F2R PEX5 HSD17B4

Drugs & Therapeutics for Peroxisomal Biogenesis Disorders

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

(show top 50) (show all 89)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
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, 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 Bile Acids and Salts Phase 3
10 Cholic Acids Phase 3
11 Gastrointestinal Agents Phase 3
12 Liver Extracts Phase 3
13 Antimetabolites Phase 3,Phase 2
14 Hypolipidemic Agents Phase 3
15 Lipid Regulating Agents Phase 3
16 Micronutrients Phase 2, Phase 3,Phase 1
17 Trace Elements Phase 2, Phase 3,Phase 1
18 Vitamin B Complex Phase 2, Phase 3
19 Vitamins Phase 2, Phase 3,Phase 1
20 Alkylating Agents Phase 2, Phase 3
21 Antilymphocyte Serum Phase 2, Phase 3
22 Antirheumatic Agents Phase 2, Phase 3
23 Immunosuppressive Agents Phase 2, Phase 3
24 Methylprednisolone acetate Phase 2, Phase 3
25 Methylprednisolone Hemisuccinate Phase 2, Phase 3
26 Prednisolone acetate Phase 2, Phase 3
27 Prednisolone hemisuccinate Phase 2, Phase 3
28 Prednisolone phosphate Phase 2, Phase 3
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
alemtuzumab Approved, Investigational Phase 2 216503-57-0
34
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
35
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
36
Hydroxyurea Approved Phase 2 127-07-1 3657
37
Melphalan Approved Phase 2 148-82-3 4053 460612
38
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
39
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
40
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
41
Mycophenolic acid Approved Phase 2 24280-93-1 446541
42
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
43
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
44
rituximab Approved Phase 2 174722-31-7 10201696
45 Thiotepa Approved Phase 2 52-24-4 5453
46
Mesna Approved Phase 2 3375-50-6 598
47 tannic acid Approved, Nutraceutical Phase 2
48 Tocopherol Approved, Nutraceutical Phase 2
49
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
50
Cholecalciferol Approved, Nutraceutical Phase 1, Phase 2 67-97-0 6221 10883523 5280795

Interventional clinical trials:

(show all 42)

id 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 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
11 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2 Canakinumab
12 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)
13 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1, Phase 2
14 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
15 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
16 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
17 Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Not yet recruiting NCT03196765 Phase 1, Phase 2 Sobetirome
18 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
19 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
20 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
21 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
22 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
23 Study of Protein Translocation in Patients With Beta-Oxidation Disorders Unknown status NCT00004348
24 Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency Unknown status NCT00260299
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
27 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
28 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
29 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853
30 The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Bezafibrate
31 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
32 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
33 The REPLACE Registry Recruiting NCT03115086
34 Newborn Screening for Adrenoleukodystrophy Recruiting NCT02952482
35 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
36 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
37 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy Available NCT02233257 Lorenzo's Oil
38 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
39 Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases Not yet recruiting NCT03163771
40 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Not yet recruiting NCT03278899
41 Early Diagnosis Of Childhood Cerebral ALD Not yet recruiting NCT02948062
42 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Peroxisomal Biogenesis Disorders

Genetic Tests for Peroxisomal Biogenesis Disorders

Genetic tests related to Peroxisomal Biogenesis Disorders:

id Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorders 29
2 Peroxisome Biogenesis Disorders (pbd) 24 PEX6

Anatomical Context for Peroxisomal Biogenesis Disorders

MalaCards organs/tissues related to Peroxisomal Biogenesis Disorders:

39
Bone, Liver, Bone Marrow, Ovary, Brain, Testes

Publications for Peroxisomal Biogenesis Disorders

Articles related to Peroxisomal Biogenesis Disorders:

(show top 50) (show all 90)
id Title Authors Year
1
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. ( 28129423 )
2017
2
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. ( 27230853 )
2016
3
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. ( 26750748 )
2016
4
Peripheral nervous system defects in a mouse model for peroxisomal biogenesis disorders. ( 25176044 )
2014
5
Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. ( 23798008 )
2013
6
Zellweger syndrome - a lethal peroxisome biogenesis disorder. ( 23327810 )
2013
7
First PEX11I^ patient extends spectrum of peroxisomal biogenesis disorder phenotypes. ( 22581969 )
2012
8
If at first you don't succeed, test again (for peroxisomal biogenesis disorders). ( 22459679 )
2012
9
Genetics and molecular basis of human peroxisome biogenesis disorders. ( 22871920 )
2012
10
Peroxisome biogenesis disorders: molecular basis for impaired peroxisomal membrane assembly: in metabolic functions and biogenesis of peroxisomes in health and disease. ( 22705440 )
2012
11
Molecular basis of peroxisomal biogenesis disorders caused by defects in peroxisomal matrix protein import. ( 22617146 )
2012
12
A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders. ( 21669930 )
2011
13
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. ( 21846392 )
2011
14
Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders. ( 23430824 )
2011
15
A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder. ( 20683989 )
2010
16
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. ( 20647552 )
2010
17
alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders. ( 19830841 )
2010
18
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. ( 19105186 )
2009
19
Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders. ( 18793625 )
2008
20
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C. ( 17534573 )
2007
21
Mutations in the Peroxin Pex26p Responsible for Peroxisome Biogenesis Disorders of Complementation Group 8 Impair Its Stability, Peroxisomal Localization, and Interaction with the Pex1p.Pex6p Complex. ( 16257970 )
2006
22
Peroxisome biogenesis disorders. ( 17055079 )
2006
23
Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder. ( 16006427 )
2005
24
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ( 15679822 )
2005
25
Peroxisome biogenesis disorders: the role of peroxisomes and metabolic dysfunction in developing brain. ( 15868469 )
2005
26
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. ( 16086329 )
2005
27
An overview of peroxisomal biogenesis disorders. ( 15875330 )
2005
28
Molecular and neurologic findings of peroxisome biogenesis disorders. ( 15921234 )
2005
29
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. ( 15098231 )
2004
30
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. ( 15184617 )
2004
31
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. ( 14872027 )
2004
32
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. ( 14571262 )
2004
33
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. ( 15542397 )
2004
34
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. ( 15146459 )
2004
35
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. ( 14630978 )
2004
36
Disturbances of valine metabolism in patients with peroxisomal biogenesis disorders. ( 14713217 )
2003
37
Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene. ( 14713216 )
2003
38
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. ( 12794690 )
2003
39
Lessons from knockout mice. I: Phenotypes of mice with peroxisome biogenesis disorders. ( 14713222 )
2003
40
Is there a phenotype/genotype correlation in peroxisome biogenesis disorders (PBDs)? ( 14713213 )
2003
41
Biochemical markers predicting survival in peroxisome biogenesis disorders. ( 14713214 )
2003
42
Mutations in novel peroxin gene PEX26 that cause peroxisome- biogenesis disorders of complementation group 8 provide a genotype- phenotype correlation. ( 12851857 )
2003
43
Modeling human peroxisome biogenesis disorders in the nematode Caenorhabditis elegans. ( 12665560 )
2003
44
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. ( 11873320 )
2002
45
Pex13, the mouse ortholog of the human peroxisome biogenesis disorder PEX13 gene: gene structure, tissue expression, and localization of the protein to peroxisomes. ( 11829486 )
2002
46
Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders. ( 12169017 )
2002
47
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. ( 12402331 )
2002
48
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. ( 11992258 )
2002
49
Biochemical markers predicting survival in peroxisome biogenesis disorders. ( 12473763 )
2002
50
Brain Uptake and Utilization of Fatty Acids: Applications to Peroxisomal Biogenesis Disorders. Proceedings and abstracts of an international workshop. Bethesda, Maryland, USA. March 2-4, 2000. ( 11808493 )
2001

Variations for Peroxisomal Biogenesis Disorders

Expression for Peroxisomal Biogenesis Disorders

Search GEO for disease gene expression data for Peroxisomal Biogenesis Disorders.

Pathways for Peroxisomal Biogenesis Disorders

Pathways related to Peroxisomal Biogenesis Disorders according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.36 ABCD1 CAT HSD17B4 PEX1 PEX10 PEX12

GO Terms for Peroxisomal Biogenesis Disorders

Cellular components related to Peroxisomal Biogenesis Disorders according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 9.77 ABCD1 CAT HSD17B4 PEX1 PEX10 PEX12
2 integral component of peroxisomal membrane GO:0005779 9.63 ABCD1 PEX10 PEX12 PEX13 PEX2 PEX3
3 peroxisomal matrix GO:0005782 9.56 CAT HSD17B4 PEX7 PIPOX
4 peroxisomal membrane GO:0005778 9.36 ABCD1 CAT HSD17B4 PEX1 PEX10 PEX12
5 membrane GO:0016020 10.17 ABCD1 BCAP31 CAT F2R HSD17B4 PEX1

Biological processes related to Peroxisomal Biogenesis Disorders according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.92 BCAP31 PEX1 PEX13 PEX5 PEX7
2 neuron migration GO:0001764 9.69 PEX13 PEX5 PEX7
3 fatty acid beta-oxidation GO:0006635 9.65 ABCD1 HSD17B4 PEX2 PEX5 PEX7
4 peroxisome organization GO:0007031 9.61 ABCD1 PEX1 PEX10 PEX12 PEX2 PEX3
5 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.49 ABCD1 HSD17B4
6 alpha-linolenic acid metabolic process GO:0036109 9.48 ABCD1 HSD17B4
7 very long-chain fatty acid metabolic process GO:0000038 9.46 HSD17B4 PEX2
8 protein targeting to peroxisome GO:0006625 9.46 PEX1 PEX12 PEX6 PEX7
9 cerebral cortex cell migration GO:0021795 9.43 PEX13 PEX5
10 protein import into peroxisome membrane GO:0045046 9.4 PEX3 PEX5
11 protein import into peroxisome matrix, docking GO:0016560 9.37 PEX13 PEX5
12 microtubule-based peroxisome localization GO:0060152 9.32 PEX1 PEX13
13 protein import into peroxisome matrix GO:0016558 9.1 PEX1 PEX10 PEX12 PEX2 PEX5 PEX7

Molecular functions related to Peroxisomal Biogenesis Disorders according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.46 CAT F2R HSD17B4 PIPOX
2 protein C-terminus binding GO:0008022 9.43 PEX1 PEX12 PEX6
3 enzyme binding GO:0019899 9.26 ABCD1 CAT PEX5 PEX7
4 ATPase activity, coupled GO:0042623 8.62 PEX1 PEX6

Sources for Peroxisomal Biogenesis Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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