MCID: PRX077
MIFTS: 36

Peroxisomal Biogenesis Disorders

Categories: Rare diseases

Aliases & Classifications for Peroxisomal Biogenesis Disorders

MalaCards integrated aliases for Peroxisomal Biogenesis Disorders:

Name: Peroxisomal Biogenesis Disorders 53
Peroxisome Biogenesis Disorders 29 55 73
Disorders of Peroxisome Biogenesis 53

Classifications:



External Ids:

UMLS 73 C1832200

Summaries for Peroxisomal Biogenesis Disorders

MalaCards based summary : Peroxisomal Biogenesis Disorders, also known as peroxisome biogenesis disorders, is related to peroxisome biogenesis disorder 1a and peroxisome biogenesis disorder 11a. An important gene associated with Peroxisomal Biogenesis Disorders is PEX10 (Peroxisomal Biogenesis Factor 10), and among its related pathways/superpathways is Peroxisome. The drugs Colchicine and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include brain, ovary and testes, and related phenotypes are homeostasis/metabolism and behavior/neurological

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 52)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1a 34.3 PEX1 PEX10
2 peroxisome biogenesis disorder 11a 34.3 PEX1 PEX13
3 peroxisome biogenesis disorder 11b 34.2 PEX1 PEX13
4 rhizomelic chondrodysplasia punctata, type 1 32.6 HSD17B4 PEX12 PEX2 PEX5 PEX7 PHEX
5 peroxisome biogenesis disorder 1b 32.6 CAT HSD17B4 PEX1 PEX10 PEX12 PEX13
6 zellweger syndrome 32.5 PEX1 PEX10 PEX12 PEX13 PEX2 PEX3
7 zellweger spectrum disorder 32.0 PEX1 PEX10 PEX12 PEX2 PEX3 PEX6
8 rhizomelic chondrodysplasia punctata, type 3 31.9 PEX5 PEX7
9 adrenoleukodystrophy 31.7 ABCD1 BCAP31 CAT PEX1 PEX10 PEX5
10 refsum disease, classic 31.6 CAT HSD17B4 PEX5 PEX7
11 rhizomelic chondrodysplasia punctata, type 2 31.5 CAT PEX5 PEX7 PHEX
12 rhizomelic chondrodysplasia punctata 30.2 PEX5 PEX7
13 chondrodysplasia punctata syndrome 30.0 PEX5 PEX7
14 peroxisomal disease 29.2 ABCD1 CAT HSD17B4 PEX1 PEX2 PEX5
15 peroxisome biogenesis disorder 14b 12.8
16 peroxisome biogenesis disorder 4a 12.8
17 peroxisome biogenesis disorder 5a 12.8
18 peroxisome biogenesis disorder 9b 12.8
19 peroxisome biogenesis disorder 2a 12.7
20 peroxisome biogenesis disorder 6a 12.7
21 peroxisome biogenesis disorder 10a 12.7
22 peroxisome biogenesis disorder 12a 12.7
23 peroxisome biogenesis disorder 3a 12.7
24 peroxisome biogenesis disorder 7a 12.7
25 peroxisome biogenesis disorder 8a 12.7
26 peroxisome biogenesis disorder 13a 12.7
27 peroxisome biogenesis disorder 4b 12.7
28 peroxisome biogenesis disorder 5b 12.7
29 peroxisome biogenesis disorder 6b 12.7
30 peroxisome biogenesis disorder 7b 12.7
31 peroxisome biogenesis disorder 8b 12.7
32 peroxisome biogenesis disorder 3b 12.7
33 peroxisome biogenesis disorder 2b 12.6
34 peroxisome biogenesis disorder 10b 12.6
35 peroxisome biogenesis disorder-zellweger syndrome spectrum 12.5
36 heimler syndrome 1 12.0
37 heimler syndrome 2 12.0
38 refsum disease, infantile form 11.4
39 deafness enamel hypoplasia nail defects 10.2 PEX1 PEX6
40 deafness, dystonia, and cerebral hypomyelination 10.1 ABCD1 BCAP31
41 chromosome xq28 deletion syndrome 10.1 ABCD1 BCAP31
42 mulibrey nanism 10.0 PEX1 PEX5 PEX7
43 acatalasemia 10.0 CAT PEX5
44 peroxisomal acyl-coa oxidase deficiency 10.0 CAT HSD17B4 PEX5
45 retinitis pigmentosa-deafness syndrome 10.0
46 cataract 10.0
47 usher syndrome 10.0
48 peroxisome disorders 10.0
49 d-bifunctional protein deficiency 10.0 CAT HSD17B4 PEX5
50 rhizomelic chondrodysplasia punctata, type 5 10.0 PEX5 PEX7 PHEX

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 ABCD1 CAT F2R HSD17B4 PEX1 PEX10
2 behavior/neurological MP:0005386 10.09 ABCD1 HSD17B4 PEX10 PEX13 PEX2 PEX5
3 growth/size/body region MP:0005378 10.07 F2R HSD17B4 PEX1 PEX10 PEX13 PEX2
4 endocrine/exocrine gland MP:0005379 10.01 ABCD1 HSD17B4 PEX13 PEX2 PEX3 PEX5
5 mortality/aging MP:0010768 9.9 ABCD1 CAT F2R HSD17B4 PEX1 PEX10
6 liver/biliary system MP:0005370 9.86 F2R HSD17B4 PEX1 PEX13 PEX2 PEX5
7 nervous system MP:0003631 9.65 ABCD1 F2R HSD17B4 PEX1 PEX10 PEX13
8 skeleton MP:0005390 9.17 F2R PEX13 PEX2 PEX3 PEX5 PEX7

Drugs & Therapeutics for Peroxisomal Biogenesis Disorders

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

(show top 50) (show all 94)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 3 64-86-8 6167 2833
2
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3 6055-19-2, 50-18-0 2907
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
7
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 55-98-1 2478
8
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
9
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
10
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
12
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
13 Bile Acids and Salts Phase 3,Not Applicable
14 Cholic Acids Phase 3,Not Applicable
15 Gastrointestinal Agents Phase 3,Not Applicable
16 Liver Extracts Phase 3
17 Lipid Regulating Agents Phase 3,Not Applicable
18 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
19 Hypolipidemic Agents Phase 3,Not Applicable
20 Vitamin B7 Phase 2, Phase 3
21 Vitamin B Complex Phase 2, Phase 3
22 Vitamins Phase 2, Phase 3,Phase 1
23 Micronutrients Phase 2, Phase 3,Phase 1
24 Vitamin B9 Phase 2, Phase 3
25 Trace Elements Phase 2, Phase 3,Phase 1
26 Folate Phase 2, Phase 3
27 Immunoglobulins Phase 3,Phase 2
28 Pharmaceutical Solutions Phase 3,Phase 2
29 Antibodies, Monoclonal Phase 3,Phase 2
30 Antibodies Phase 3,Phase 2
31 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable
32 Prednisolone acetate Phase 2, Phase 3
33 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
34 Methylprednisolone acetate Phase 2, Phase 3
35 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable
36 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 1,Not Applicable
37 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
38 Antilymphocyte Serum Phase 2, Phase 3,Phase 1
39
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
40
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
41 tannic acid Approved Phase 2,Not Applicable
42
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
43
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
44
Hydroxyurea Approved Phase 2 127-07-1 3657
45
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
46
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
47
Mesna Approved, Investigational Phase 2 3375-50-6 598
48
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
49
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
50
Fludarabine Approved Phase 2,Phase 1 75607-67-9, 21679-14-1 30751

Interventional clinical trials:

(show all 50)
# 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 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
7 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
8 Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
9 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
10 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
11 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
12 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
13 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2 Canakinumab
14 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)
15 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
16 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases Recruiting NCT03367546 Phase 2
17 Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Recruiting NCT03196765 Phase 1, Phase 2 Sobetirome (NV1205)
18 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
19 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
20 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
21 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1
22 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
23 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
24 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
25 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
26 Study of Protein Translocation in Patients With Beta-Oxidation Disorders Unknown status NCT00004348
27 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044 Not Applicable
28 Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency Unknown status NCT00260299
29 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
30 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
31 Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416 Not Applicable
32 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
33 Newborn Screening for Adrenoleukodystrophy Completed NCT02952482
34 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853 Not Applicable
35 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
36 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 Not Applicable glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
37 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
38 The REPLACE Registry Recruiting NCT03115086
39 Lentiviral Gene Therapy for X-ALD Recruiting NCT03727555 Not Applicable
40 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Recruiting NCT03278899
41 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
42 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
43 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
44 Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases Not yet recruiting NCT03163771
45 A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) Not yet recruiting NCT03810508
46 Minnesota Adrenoleukodystrophy Registry Study (MARS) and Biobank Not yet recruiting NCT03789721
47 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil
48 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable chenodeoxycholic acid;cholic acid;ursodiol
49 Early Diagnosis Of Childhood Cerebral ALD Withdrawn NCT02948062
50 B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency Withdrawn NCT01568736

Search NIH Clinical Center for Peroxisomal Biogenesis Disorders

Genetic Tests for Peroxisomal Biogenesis Disorders

Genetic tests related to Peroxisomal Biogenesis Disorders:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorders 29

Anatomical Context for Peroxisomal Biogenesis Disorders

MalaCards organs/tissues related to Peroxisomal Biogenesis Disorders:

41
Brain, Ovary, Testes

Publications for Peroxisomal Biogenesis Disorders

Articles related to Peroxisomal Biogenesis Disorders:

(show top 50) (show all 74)
# Title Authors Year
1
Novel retinal findings in peroxisomal biogenesis disorders. ( 29377746 )
2018
2
Pexophagy is responsible for 65% of cases of peroxisome biogenesis disorders. ( 28318378 )
2017
3
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype. ( 28320181 )
2017
4
The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders. ( 28521612 )
2017
5
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. ( 26750748 )
2016
6
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. ( 27230853 )
2016
7
Peroxisome biogenesis disorders. ( 29152457 )
2016
8
Peripheral nervous system defects in a mouse model for peroxisomal biogenesis disorders. ( 25176044 )
2014
9
Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. ( 23798008 )
2013
10
If at first you don't succeed, test again (for peroxisomal biogenesis disorders). ( 22459679 )
2012
11
Peroxisome biogenesis disorders: molecular basis for impaired peroxisomal membrane assembly: in metabolic functions and biogenesis of peroxisomes in health and disease. ( 22705440 )
2012
12
Genetics and molecular basis of human peroxisome biogenesis disorders. ( 22871920 )
2012
13
Molecular basis of peroxisomal biogenesis disorders caused by defects in peroxisomal matrix protein import. ( 22617146 )
2012
14
Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders. ( 23430824 )
2011
15
A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders. ( 21669930 )
2011
16
alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders. ( 19830841 )
2010
17
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. ( 19105186 )
2009
18
Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders. ( 18793625 )
2008
19
Peroxisome biogenesis disorders. ( 17055079 )
2006
20
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
21
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. ( 16086329 )
2005
22
Peroxisome biogenesis disorders: the role of peroxisomes and metabolic dysfunction in developing brain. ( 15868469 )
2005
23
An overview of peroxisomal biogenesis disorders. ( 15875330 )
2005
24
Molecular and neurologic findings of peroxisome biogenesis disorders. ( 15921234 )
2005
25
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ( 15679822 )
2005
26
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. ( 14872027 )
2004
27
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. ( 15098231 )
2004
28
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. ( 15146459 )
2004
29
Is there a phenotype/genotype correlation in peroxisome biogenesis disorders (PBDs)? ( 14713213 )
2003
30
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. ( 12794690 )
2003
31
Lessons from knockout mice. I: Phenotypes of mice with peroxisome biogenesis disorders. ( 14713222 )
2003
32
Modeling human peroxisome biogenesis disorders in the nematode Caenorhabditis elegans. ( 12665560 )
2003
33
Biochemical markers predicting survival in peroxisome biogenesis disorders. ( 14713214 )
2003
34
Disturbances of valine metabolism in patients with peroxisomal biogenesis disorders. ( 14713217 )
2003
35
Mutations in novel peroxin gene PEX26 that cause peroxisome- biogenesis disorders of complementation group 8 provide a genotype- phenotype correlation. ( 12851857 )
2003
36
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
37
Peroxisome biogenesis disorders. ( 14527301 )
2003
38
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. ( 11992258 )
2002
39
Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders. ( 12169017 )
2002
40
Biochemical markers predicting survival in peroxisome biogenesis disorders. ( 12473763 )
2002
41
Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders. ( 11768392 )
2001
42
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
43
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. ( 11439091 )
2001
44
Enhanced expression of a-series gangliosides in fibroblasts of patients with peroxisome biogenesis disorders. ( 11278168 )
2001
45
The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. ( 11355018 )
2001
46
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders. ( 11405337 )
2001
47
Genetic and molecular bases of peroxisome biogenesis disorders. ( 11545691 )
2001
48
Peroxisome biogenesis and peroxisome biogenesis disorders. ( 10878247 )
2000
49
Pharmacological induction of peroxisomes in peroxisome biogenesis disorders. ( 10716247 )
2000
50
Rapid diagnosis of peroxisome biogenesis disorders through immunofluorescence staining of buccal smears. ( 10852556 )
2000

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:

# 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:

# 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 9.4 ABCD1 CAT HSD17B4 PEX1 PEX10 PEX12
5 peroxisomal importomer complex GO:1990429 9.32 PEX12 PEX13
6 membrane GO:0016020 10.21 ABCD1 BCAP31 CAT F2R HSD17B4 PEX1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.92 BCAP31 PEX1 PEX13 PEX5 PEX7
2 protein targeting to peroxisome GO:0006625 9.9 CAT HSD17B4 PEX1 PEX10 PEX12 PEX13
3 protein ubiquitination GO:0016567 9.83 PEX10 PEX12 PEX13 PEX2 PEX5
4 neuron migration GO:0001764 9.71 PEX13 PEX5 PEX7
5 fatty acid beta-oxidation GO:0006635 9.65 ABCD1 HSD17B4 PEX2 PEX5 PEX7
6 peroxisome organization GO:0007031 9.61 ABCD1 PEX1 PEX10 PEX12 PEX2 PEX3
7 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.51 ABCD1 HSD17B4
8 alpha-linolenic acid metabolic process GO:0036109 9.49 ABCD1 HSD17B4
9 very long-chain fatty acid metabolic process GO:0000038 9.48 HSD17B4 PEX2
10 cerebral cortex cell migration GO:0021795 9.46 PEX13 PEX5
11 protein import into peroxisome membrane GO:0045046 9.4 PEX3 PEX5
12 protein import into peroxisome matrix, docking GO:0016560 9.37 PEX13 PEX5
13 microtubule-based peroxisome localization GO:0060152 9.32 PEX1 PEX13
14 protein import into peroxisome matrix GO:0016558 9.17 PEX1 PEX10 PEX12 PEX2 PEX5 PEX6

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.56 CAT F2R HSD17B4 PIPOX
2 protein C-terminus binding GO:0008022 9.5 PEX1 PEX12 PEX6
3 enzyme binding GO:0019899 9.46 ABCD1 CAT PEX5 PEX7
4 ATPase activity, coupled GO:0042623 8.96 PEX1 PEX6
5 ATPase activity GO:0016887 8.92 ABCD1 DNAH8 PEX1 PEX6

Sources for Peroxisomal Biogenesis 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
Content
Loading form....