MCID: PRX005
MIFTS: 40

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 11b. An important gene associated with Peroxisomal Biogenesis Disorder is PEX12 (Peroxisomal Biogenesis Factor 12), and among its related pathways/superpathways is Peroxisome. The drugs Colchicine and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and ovary, 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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 11a 34.3 PEX1 PEX13
2 peroxisome biogenesis disorder 11b 34.2 PEX1 PEX13
3 peroxisome biogenesis disorder 1a 34.1 PEX1 PEX10
4 rhizomelic chondrodysplasia punctata, type 3 32.3 PEX5 PEX7
5 zellweger spectrum disorder 32.0 PEX1 PEX10 PEX12 PEX2 PEX6
6 adrenoleukodystrophy 31.7 PEX1 PEX10 PEX5 PEX6
7 zellweger syndrome 31.7 PEX1 PEX10 PEX12 PEX13 PEX2 PEX5
8 rhizomelic chondrodysplasia punctata, type 1 31.6 HSD17B4 PEX12 PEX2 PEX5 PEX7 PHEX
9 refsum disease, classic 31.5 HSD17B4 PEX5 PEX7
10 rhizomelic chondrodysplasia punctata, type 2 31.3 PEX5 PEX7 PHEX
11 peroxisome biogenesis disorder 1b 30.8 HSD17B4 PEX1 PEX10 PEX11B PEX12 PEX13
12 deafness enamel hypoplasia nail defects 30.4 PEX1 PEX6
13 rhizomelic chondrodysplasia punctata 30.2 PEX5 PEX7
14 chondrodysplasia punctata syndrome 29.9 PEX5 PEX7
15 peroxisomal disease 28.8 HSD17B4 PEX1 PEX2 PEX5 PEX7
16 peroxisome biogenesis disorder 4a 12.9
17 peroxisome biogenesis disorder 5a 12.9
18 peroxisome biogenesis disorder 6a 12.9
19 peroxisome biogenesis disorder 2a 12.9
20 peroxisome biogenesis disorder 12a 12.9
21 peroxisome biogenesis disorder 3a 12.9
22 peroxisome biogenesis disorder 7a 12.9
23 peroxisome biogenesis disorder 13a 12.9
24 peroxisome biogenesis disorder 14b 12.9
25 peroxisome biogenesis disorder 5b 12.8
26 peroxisome biogenesis disorder 6b 12.8
27 peroxisome biogenesis disorder 7b 12.8
28 peroxisome biogenesis disorder 4b 12.8
29 peroxisome biogenesis disorder 8b 12.8
30 peroxisome biogenesis disorder 10a 12.8
31 peroxisome biogenesis disorder 8a 12.8
32 peroxisome biogenesis disorder 9b 12.8
33 peroxisome biogenesis disorder 2b 12.8
34 peroxisome biogenesis disorder 3b 12.7
35 peroxisome biogenesis disorder 10b 12.7
36 peroxisome biogenesis disorder-zellweger syndrome spectrum 12.6
37 heimler syndrome 2 12.3
38 heimler syndrome 1 12.1
39 refsum disease, infantile form 11.5
40 leber congenital amaurosis 10.3
41 ataxia and polyneuropathy, adult-onset 10.1
42 retinitis pigmentosa-deafness syndrome 10.0
43 cataract 10.0
44 usher syndrome 10.0
45 adrenomyeloneuropathy 10.0
46 peroxisome disorders 10.0
47 peroxisomal acyl-coa oxidase deficiency 9.8 HSD17B4 PEX5
48 alpha-methylacetoacetic aciduria 9.8 HSD17B4 PEX5
49 mulibrey nanism 9.8 PEX1 PEX5 PEX7
50 d-bifunctional protein deficiency 9.7 HSD17B4 PEX5

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
Colchicine Approved Phase 3 64-86-8 2833 6167
2
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3 50-18-0, 6055-19-2 2907
5
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
6
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 55-98-1 2478
7
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
8
Fludarabine Approved Phase 3,Phase 2,Phase 1 75607-67-9, 21679-14-1 30751
9
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
10
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
11
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
13
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
14 Cholic Acids Phase 3,Not Applicable
15 Gastrointestinal Agents Phase 3,Not Applicable
16 Bile Acids and Salts Phase 3,Not Applicable
17 Liver Extracts Phase 3
18 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
19 Lipid Regulating Agents Phase 3,Not Applicable
20 Hypolipidemic Agents Phase 3,Not Applicable
21 Trace Elements Phase 2, Phase 3,Phase 1
22 Vitamin B7 Phase 2, Phase 3
23 Vitamin B Complex Phase 2, Phase 3
24 Vitamins Phase 2, Phase 3,Phase 1
25 Vitamin B9 Phase 2, Phase 3
26 Folate Phase 2, Phase 3
27 Nutrients Phase 2, Phase 3,Phase 1
28 Micronutrients Phase 2, Phase 3,Phase 1
29 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable
30 Pharmaceutical Solutions Phase 3,Phase 2
31 Antibodies, Monoclonal Phase 3,Phase 2
32 Immunoglobulins Phase 3,Phase 2
33 Antibodies Phase 3,Phase 2
34 Prednisolone acetate Phase 2, Phase 3
35 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 1,Not Applicable
36 Methylprednisolone Acetate Phase 2, Phase 3
37 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable
38 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
39 Antilymphocyte Serum Phase 2, Phase 3,Phase 1
40 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
41
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
42
Hydroxyurea Approved Phase 2 127-07-1 3657
43
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
44
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
45
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
46
tannic acid Approved Phase 2,Not Applicable 1401-55-4
47
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
48
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
49
Mesna Approved, Investigational Phase 2 3375-50-6 598
50
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
2 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
3 MD1003-AMN MD1003 in Adrenomyeloneuropathy Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
4 An Extention Study of Safety of Canakinumab in Japanese Patients With Periodic Fever Syndromes Completed NCT02911857 Phase 3
5 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
6 Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT03852498 Phase 3 Genetic
7 A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. Active, not recruiting NCT03231878 Phase 2, Phase 3 MIN-102;Placebos
8 A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Active, not recruiting NCT01896102 Phase 2, Phase 3
9 Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
10 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
11 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
12 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
13 A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants Completed NCT01495260 Phase 2 N-acetylcysteine;lipoic acid;vitamin E
14 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2 Canakinumab
15 Hydroxychloroquine Administration for Reduction of Pexophagy Recruiting NCT03856866 Phase 2 Hydroxychloroquine;Placebo
16 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
17 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
18 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases Recruiting NCT03367546 Phase 2
19 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
20 Effect of Pioglitazone Administered to Patients With Adrenomyeloneuropathy Active, not recruiting NCT03864523 Phase 2 Pioglitazone
21 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
22 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
23 Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Withdrawn NCT03196765 Phase 1, Phase 2 Sobetirome (NV1205)
24 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1
25 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
26 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
27 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
28 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
29 Study of Protein Translocation in Patients With Beta-Oxidation Disorders Unknown status NCT00004348
30 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044 Not Applicable
31 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
32 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
33 Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416 Not Applicable
34 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
35 Newborn Screening for Adrenoleukodystrophy Completed NCT02952482
36 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853 Not Applicable
37 The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Not Applicable Bezafibrate
38 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 Not Applicable glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
39 Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases Recruiting NCT03163771
40 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
41 The REPLACE Registry Recruiting NCT03115086
42 Lentiviral Gene Therapy for X-ALD Recruiting NCT03727555 Not Applicable
43 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Recruiting NCT03278899
44 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
45 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
46 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
47 A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) Not yet recruiting NCT03810508
48 Minnesota Adrenoleukodystrophy Registry Study (MARS) and Biobank Not yet recruiting NCT03789721
49 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil
50 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Peroxisomal 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, Bone Marrow, Ovary, Brain

Publications for Peroxisomal Biogenesis Disorder

Articles related to Peroxisomal Biogenesis Disorder:

(show top 50) (show all 76)
# 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
Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder. ( 26700162 )
2016
6
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. ( 26750748 )
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
First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes. ( 22581969 )
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
Peroxisomal biogenesis disorder biomarkers. ( 21888010 )
2011
14
A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders. ( 21669930 )
2011
15
Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders. ( 23430824 )
2011
16
Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism. ( 19933170 )
2010
17
A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder. ( 20683989 )
2010
18
alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders. ( 19830841 )
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
Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x 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
Molecular and neurologic findings of peroxisome biogenesis disorders. ( 15921234 )
2005
27
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. ( 16086329 )
2005
28
Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings. ( 15205141 )
2004
29
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. ( 15542397 )
2004
30
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. ( 14872027 )
2004
31
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. ( 15098231 )
2004
32
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. ( 15146459 )
2004
33
Modeling human peroxisome biogenesis disorders in the nematode Caenorhabditis elegans. ( 12665560 )
2003
34
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. ( 12794690 )
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
Peroxisome biogenesis disorders. ( 14527301 )
2003
37
Is there a phenotype/genotype correlation in peroxisome biogenesis disorders (PBDs)? ( 14713213 )
2003
38
Biochemical markers predicting survival in peroxisome biogenesis disorders. ( 14713214 )
2003
39
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
40
Lessons from knockout mice. I: Phenotypes of mice with peroxisome biogenesis disorders. ( 14713222 )
2003
41
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. ( 11873320 )
2002
42
Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders. ( 12169017 )
2002
43
Biochemical markers predicting survival in peroxisome biogenesis disorders. ( 12473763 )
2002
44
Enhanced expression of a-series gangliosides in fibroblasts of patients with peroxisome biogenesis disorders. ( 11278168 )
2001
45
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders. ( 11405337 )
2001
46
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. ( 11439091 )
2001
47
Genetic and molecular bases of peroxisome biogenesis disorders. ( 11545691 )
2001
48
Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders. ( 11768392 )
2001
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
Content
Loading form....