MCID: PRX005
MIFTS: 41

Peroxisomal Biogenesis Disorder

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Peroxisomal Biogenesis Disorder

MalaCards integrated aliases for Peroxisomal Biogenesis Disorder:

Name: Peroxisomal Biogenesis Disorder 12 15
Peroxisome Biogenesis Disorders 30 56
Disorders of Peroxisome Biogenesis 54
Peroxisomal Biogenesis Disorders 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0080377

Summaries for Peroxisomal Biogenesis Disorder

Disease Ontology : 12 A peroxisomal biogenesis disorder that has material basis in defects in PEX genes.

MalaCards based summary : Peroxisomal Biogenesis Disorder, also known as peroxisome biogenesis disorders, is related to peroxisome biogenesis disorder 11a and peroxisome biogenesis disorder 1a. An important gene associated with Peroxisomal Biogenesis Disorder is PEX12 (Peroxisomal Biogenesis Factor 12), and among its related pathways/superpathways is Peroxisome. The drugs Fludarabine and Busulfan 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 Disorder

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 11a 34.1 PEX1 PEX13
2 peroxisome biogenesis disorder 1a 34.1 PEX10 PEX1
3 peroxisome biogenesis disorder 11b 34.0 PEX1 PEX13
4 rhizomelic chondrodysplasia punctata, type 3 31.8 PEX5 PEX7
5 adrenoleukodystrophy 31.6 PEX6 PEX5 PEX10 PEX1
6 zellweger syndrome 31.6 PEX6 PEX5 PEX2 PEX13 PEX12 PEX10
7 rhizomelic chondrodysplasia punctata, type 1 31.6 PHEX PEX7 PEX5 PEX2 PEX12 HSD17B4
8 refsum disease, classic 31.5 PEX5 HSD17B4 PEX7
9 zellweger spectrum disorder 31.5 PEX6 PEX2 PEX12 PEX10 PEX1
10 rhizomelic chondrodysplasia punctata, type 2 31.2 PEX5 PEX7 PHEX
11 peroxisome biogenesis disorder 1b 30.8 PHEX PEX7 PEX6 PEX5 PEX2 PEX13
12 rhizomelic chondrodysplasia punctata 30.2 PEX5 PEX7
13 chondrodysplasia punctata syndrome 29.9 PEX5 PEX7
14 peroxisomal disease 28.8 PEX7 PEX5 PEX2 PEX1 HSD17B4
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 2a 12.8
19 peroxisome biogenesis disorder 6a 12.8
20 peroxisome biogenesis disorder 10a 12.8
21 peroxisome biogenesis disorder 12a 12.8
22 peroxisome biogenesis disorder 3a 12.8
23 peroxisome biogenesis disorder 7a 12.8
24 peroxisome biogenesis disorder 8a 12.8
25 peroxisome biogenesis disorder 13a 12.8
26 peroxisome biogenesis disorder 9b 12.8
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 12.7
34 peroxisome biogenesis disorder 10b 12.6
35 peroxisome biogenesis disorder-zellweger syndrome spectrum 12.6
36 heimler syndrome 1 12.1
37 heimler syndrome 2 12.1
38 refsum disease, infantile form 11.4
39 deafness enamel hypoplasia nail defects 10.0 PEX6 PEX1
40 retinitis pigmentosa-deafness syndrome 10.0
41 ataxia and polyneuropathy, adult-onset 10.0
42 cataract 10.0
43 usher syndrome 10.0
44 peroxisome disorders 10.0
45 peroxisomal acyl-coa oxidase deficiency 9.8 HSD17B4 PEX5
46 alpha-methylacetoacetic aciduria 9.8 HSD17B4 PEX5
47 mulibrey nanism 9.7 PEX7 PEX5 PEX1
48 d-bifunctional protein deficiency 9.7 HSD17B4 PEX5
49 rhizomelic chondrodysplasia punctata, type 5 9.6 PHEX PEX7 PEX5
50 neonatal adrenoleukodystrophy 8.5 PEX7 PEX6 PEX5 PEX2 PEX13 PEX12

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



Diseases related to Peroxisomal Biogenesis Disorder

Symptoms & Phenotypes for Peroxisomal Biogenesis Disorder

MGI Mouse Phenotypes related to Peroxisomal Biogenesis Disorder:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 HSD17B4 PEX10 PEX11B PEX13 PEX2 PEX5
2 growth/size/body region MP:0005378 10.02 HSD17B4 PEX1 PEX10 PEX11B PEX13 PEX2
3 cellular MP:0005384 9.98 HSD17B4 PEX10 PEX11B PEX13 PEX5 PEX7
4 homeostasis/metabolism MP:0005376 9.97 HSD17B4 PEX1 PEX10 PEX11B PEX13 PEX2
5 endocrine/exocrine gland MP:0005379 9.88 HSD17B4 PEX13 PEX2 PEX5 PEX7 PHEX
6 liver/biliary system MP:0005370 9.86 HSD17B4 PEX1 PEX11B PEX13 PEX2 PEX5
7 mortality/aging MP:0010768 9.81 HSD17B4 PEX1 PEX10 PEX11B PEX13 PEX2
8 nervous system MP:0003631 9.61 HSD17B4 PEX1 PEX10 PEX11B PEX13 PEX2
9 skeleton MP:0005390 9.1 PEX11B PEX13 PEX2 PEX5 PEX7 PHEX

Drugs & Therapeutics for Peroxisomal Biogenesis Disorder

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

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 3,Phase 2,Phase 1 75607-67-9, 21679-14-1 30751
2
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1 55-98-1 2478
3
Colchicine Approved Phase 3 64-86-8 6167 2833
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3 6055-19-2, 50-18-0 2907
5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
6
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
7
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
8
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
9
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
10
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
12
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
13
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
14 Bile Acids and Salts Phase 3,Not Applicable
15 Cholic Acids Phase 3,Not Applicable
16 Liver Extracts Phase 3
17 Gastrointestinal Agents Phase 3,Not Applicable
18 Lipid Regulating Agents Phase 3,Not Applicable
19 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
20 Hypolipidemic Agents Phase 3,Not Applicable
21 Pharmaceutical Solutions Phase 3,Phase 2
22 Vitamin B7 Phase 2, Phase 3
23 Micronutrients Phase 2, Phase 3,Phase 1
24 Vitamin B9 Phase 2, Phase 3
25 Folate Phase 2, Phase 3
26 Nutrients Phase 2, Phase 3,Phase 1
27 Vitamin B Complex Phase 2, Phase 3
28 Trace Elements Phase 2, Phase 3,Phase 1
29 Vitamins Phase 2, Phase 3,Phase 1
30 Immunoglobulins Phase 3,Phase 2
31 Antibodies, Monoclonal Phase 3,Phase 2
32 Antibodies Phase 3,Phase 2
33 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable
34 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
35 Prednisolone acetate Phase 2, Phase 3
36 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 1,Not Applicable
37 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable
38 Methylprednisolone Acetate Phase 2, Phase 3
39 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
40 Antilymphocyte Serum Phase 2, Phase 3,Phase 1
41
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
42
tannic acid Approved Phase 2,Not Applicable 1401-55-4
43
Hydroxyurea Approved Phase 2 127-07-1 3657
44
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
45
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
46
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
47
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
48
Hydroxychloroquine Approved Phase 2 118-42-3 3652
49
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
50
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453

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 Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT03852498 Phase 3 Genetic
4 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
5 MD1003-AMN MD1003 in Adrenomyeloneuropathy Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
6 An Extention Study of Safety of Canakinumab in Japanese Patients With Periodic Fever Syndromes Completed NCT02911857 Phase 3
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 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
9 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
10 Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
11 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
12 Hydroxychloroquine Administration for Reduction of Pexophagy Recruiting NCT03856866 Phase 2 Hydroxychloroquine;Placebo
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 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
15 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
16 Effect of Pioglitazone Administered to Patients With Adrenomyeloneuropathy Active, not recruiting NCT03864523 Phase 2 Pioglitazone
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 Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Withdrawn NCT03196765 Phase 1, Phase 2 Sobetirome (NV1205)
20 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
21 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
22 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
23 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2 Canakinumab
24 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1
25 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
26 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
27 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
28 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
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 Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency Unknown status NCT00260299
32 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
33 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
34 Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases Recruiting NCT03163771
35 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable chenodeoxycholic acid;cholic acid;ursodiol
36 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
37 The REPLACE Registry Recruiting NCT03115086
38 A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) Not yet recruiting NCT03810508
39 Minnesota Adrenoleukodystrophy Registry Study (MARS) and Biobank Not yet recruiting NCT03789721
40 Lentiviral Gene Therapy for X-ALD Recruiting NCT03727555 Not Applicable
41 Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416 Not Applicable
42 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
43 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Recruiting NCT03278899
44 Newborn Screening for Adrenoleukodystrophy Completed NCT02952482
45 Early Diagnosis Of Childhood Cerebral ALD Withdrawn NCT02948062
46 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
47 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
48 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil
49 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
50 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853 Not Applicable

Search NIH Clinical Center for Peroxisomal Biogenesis Disorder

Genetic Tests for Peroxisomal Biogenesis Disorder

Genetic tests related to Peroxisomal Biogenesis Disorder:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorders 30

Anatomical Context for Peroxisomal Biogenesis Disorder

MalaCards organs/tissues related to Peroxisomal Biogenesis Disorder:

42
Bone, Liver, Bone Marrow, Ovary, Brain

Publications for Peroxisomal Biogenesis Disorder

Articles related to Peroxisomal Biogenesis Disorder:

(show top 50) (show all 75)
# Title Authors Year
1
Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders. ( 30640048 )
2019
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
Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder. ( 26700162 )
2016
7
Peroxisome biogenesis disorders. ( 29152457 )
2016
8
A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder. ( 26094004 )
2015
9
Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. ( 23798008 )
2013
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
First PEX11I^ patient extends spectrum of peroxisomal biogenesis disorder phenotypes. ( 22581969 )
2012
12
Genetics and molecular basis of human peroxisome biogenesis disorders. ( 22871920 )
2012
13
Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders. ( 23430824 )
2011
14
A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders. ( 21669930 )
2011
15
Peroxisomal biogenesis disorder biomarkers. ( 21888010 )
2011
16
A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder. ( 20683989 )
2010
17
alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders. ( 19830841 )
2010
18
Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism. ( 19933170 )
2010
19
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. ( 19105186 )
2009
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
Peroxisome biogenesis disorders. ( 17055079 )
2006
22
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
23
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. ( 16086329 )
2005
24
Peroxisome biogenesis disorders: the role of peroxisomes and metabolic dysfunction in developing brain. ( 15868469 )
2005
25
Molecular and neurologic findings of peroxisome biogenesis disorders. ( 15921234 )
2005
26
Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder. ( 16006427 )
2005
27
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ( 15679822 )
2005
28
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. ( 14872027 )
2004
29
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. ( 15098231 )
2004
30
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. ( 15146459 )
2004
31
Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings. ( 15205141 )
2004
32
Is there a phenotype/genotype correlation in peroxisome biogenesis disorders (PBDs)? ( 14713213 )
2003
33
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. ( 12794690 )
2003
34
Lessons from knockout mice. I: Phenotypes of mice with peroxisome biogenesis disorders. ( 14713222 )
2003
35
Modeling human peroxisome biogenesis disorders in the nematode Caenorhabditis elegans. ( 12665560 )
2003
36
Biochemical markers predicting survival in peroxisome biogenesis disorders. ( 14713214 )
2003
37
Mutations in novel peroxin gene PEX26 that cause peroxisome- biogenesis disorders of complementation group 8 provide a genotype- phenotype correlation. ( 12851857 )
2003
38
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
39
Peroxisome biogenesis disorders. ( 14527301 )
2003
40
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. ( 11873320 )
2002
41
Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders. ( 12169017 )
2002
42
Biochemical markers predicting survival in peroxisome biogenesis disorders. ( 12473763 )
2002
43
Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders. ( 11768392 )
2001
44
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. ( 11439091 )
2001
45
Enhanced expression of a-series gangliosides in fibroblasts of patients with peroxisome biogenesis disorders. ( 11278168 )
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 Disorder

Expression for Peroxisomal Biogenesis Disorder

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

Pathways for Peroxisomal Biogenesis Disorder

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

# Super pathways Score Top Affiliating Genes
1 11.24 HSD17B4 PEX1 PEX10 PEX11B PEX12 PEX13

GO Terms for Peroxisomal Biogenesis Disorder

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

# Name GO ID Score Top Affiliating Genes
1 peroxisomal membrane GO:0005778 9.65 HSD17B4 PEX1 PEX10 PEX11B PEX12 PEX13
2 integral component of peroxisomal membrane GO:0005779 9.55 PEX10 PEX11B PEX12 PEX13 PEX2
3 peroxisomal matrix GO:0005782 9.37 HSD17B4 PEX7
4 peroxisome GO:0005777 9.32 HSD17B4 PEX1 PEX10 PEX11B PEX12 PEX13
5 peroxisomal importomer complex GO:1990429 9.26 PEX12 PEX13
6 membrane GO:0016020 10.02 HSD17B4 PEX1 PEX10 PEX11B PEX12 PEX13

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein targeting to peroxisome GO:0006625 9.81 HSD17B4 PEX1 PEX10 PEX12 PEX13 PEX2
2 protein transport GO:0015031 9.8 PEX1 PEX13 PEX5 PEX7
3 protein ubiquitination GO:0016567 9.8 PEX10 PEX12 PEX13 PEX2 PEX5
4 neuron migration GO:0001764 9.63 PEX13 PEX5 PEX7
5 fatty acid beta-oxidation GO:0006635 9.56 HSD17B4 PEX2 PEX5 PEX7
6 peroxisome organization GO:0007031 9.56 PEX1 PEX10 PEX11B PEX12 PEX2 PEX5
7 very long-chain fatty acid metabolic process GO:0000038 9.48 HSD17B4 PEX2
8 cerebral cortex cell migration GO:0021795 9.43 PEX13 PEX5
9 protein import into peroxisome matrix, docking GO:0016560 9.37 PEX13 PEX5
10 microtubule-based peroxisome localization GO:0060152 9.32 PEX1 PEX13
11 protein import into peroxisome matrix GO:0016558 9.17 PEX1 PEX10 PEX12 PEX2 PEX5 PEX6

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

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.13 PEX1 PEX12 PEX6
2 ATPase activity, coupled GO:0042623 8.62 PEX1 PEX6

Sources for Peroxisomal Biogenesis Disorder

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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