MCID: PRX077
MIFTS: 40

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 Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow, 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 53)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1a 34.6 PEX1 PEX10
2 peroxisome biogenesis disorder 11a 34.4 PEX1 PEX13
3 peroxisome biogenesis disorder 11b 34.3 PEX1 PEX13
4 rhizomelic chondrodysplasia punctata, type 3 31.8 PEX5 PEX7
5 zellweger spectrum disorder 31.6 PEX1 PEX10 PEX12 PEX2 PEX3 PEX6
6 rhizomelic chondrodysplasia punctata, type 1 31.3 HSD17B4 PEX12 PEX2 PEX5 PEX7 PHEX
7 zellweger syndrome 31.0 PEX1 PEX10 PEX12 PEX13 PEX2 PEX3
8 refsum disease, classic 30.9 CAT HSD17B4 PEX5 PEX7
9 rhizomelic chondrodysplasia punctata, type 2 30.6 CAT PEX5 PEX7 PHEX
10 adrenoleukodystrophy 30.1 ABCD1 BCAP31 CAT PEX1 PEX10 PEX5
11 chondrodysplasia punctata syndrome 29.9 PEX5 PEX7
12 rhizomelic chondrodysplasia punctata 29.5 PEX5 PEX7
13 peroxisome biogenesis disorder 1b 29.1 CAT HSD17B4 PEX1 PEX10 PEX12 PEX13
14 peroxisomal disease 27.4 ABCD1 CAT HSD17B4 PEX1 PEX2 PEX5
15 peroxisome biogenesis disorder 14b 12.7
16 peroxisome biogenesis disorder 4a 12.6
17 peroxisome biogenesis disorder 5a 12.6
18 peroxisome biogenesis disorder 9b 12.6
19 peroxisome biogenesis disorder 2a 12.6
20 peroxisome biogenesis disorder 10a 12.6
21 peroxisome biogenesis disorder 12a 12.6
22 peroxisome biogenesis disorder 6a 12.6
23 peroxisome biogenesis disorder 3a 12.6
24 peroxisome biogenesis disorder 13a 12.6
25 peroxisome biogenesis disorder 7a 12.6
26 peroxisome biogenesis disorder 8a 12.6
27 peroxisome biogenesis disorder 8b 12.5
28 peroxisome biogenesis disorder 4b 12.5
29 peroxisome biogenesis disorder 5b 12.5
30 peroxisome biogenesis disorder 6b 12.5
31 peroxisome biogenesis disorder 7b 12.5
32 peroxisome biogenesis disorder 3b 12.5
33 peroxisome biogenesis disorder 2b 12.5
34 peroxisome biogenesis disorder 10b 12.5
35 peroxisome biogenesis disorder-zellweger syndrome spectrum 12.4
36 heimler syndrome 2 11.9
37 heimler syndrome 1 11.9
38 refsum disease, infantile form 11.3
39 deafness, dystonia, and cerebral hypomyelination 10.5 ABCD1 BCAP31
40 deafness enamel hypoplasia nail defects 10.5 PEX1 PEX6
41 chromosome xq28 deletion syndrome 10.4 ABCD1 BCAP31
42 mulibrey nanism 10.0 PEX1 PEX5 PEX7
43 peroxisomal acyl-coa oxidase deficiency 10.0 CAT HSD17B4 PEX5
44 d-bifunctional protein deficiency 10.0 CAT HSD17B4 PEX5
45 rhizomelic chondrodysplasia punctata, type 5 9.9 PEX5 PEX7 PHEX
46 retinitis pigmentosa-deafness syndrome 9.9
47 aging 9.9
48 peroxisome disorders 9.9
49 cataract 9.9
50 usher syndrome 9.9

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 10.03 ABCD1 CAT F2R HSD17B4 PEX1 PEX10
2 behavior/neurological MP:0005386 10.02 ABCD1 HSD17B4 PEX10 PEX13 PEX2 PEX5
3 growth/size/body region MP:0005378 10.02 F2R HSD17B4 PEX1 PEX10 PEX13 PEX2
4 liver/biliary system MP:0005370 9.7 F2R HSD17B4 PEX1 PEX13 PEX2 PEX5
5 nervous system MP:0003631 9.65 PEX1 PEX10 PEX13 PEX2 PEX5 PEX7
6 skeleton MP:0005390 9.17 PEX2 PEX3 PEX5 PEX7 PHEX F2R

Drugs & Therapeutics for Peroxisomal Biogenesis Disorders

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

(show top 50) (show all 91)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3 50-18-0, 6055-19-2 2907
2
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3 55-98-1 2478
3
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
6
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
7
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
9 Prednisolone acetate Phase 2, Phase 3
10 Alkylating Agents Phase 2, Phase 3,Not Applicable
11 Methylprednisolone acetate Phase 2, Phase 3
12 Methylprednisolone Hemisuccinate Phase 2, Phase 3
13 Micronutrients Phase 2, Phase 3,Phase 1
14 Cholic Acids Phase 3,Not Applicable
15 Gastrointestinal Agents Phase 3,Not Applicable
16 Trace Elements Phase 2, Phase 3,Phase 1
17 Vitamin B Complex Phase 2, Phase 3
18 Hypolipidemic Agents Phase 3,Not Applicable
19 Vitamins Phase 2, Phase 3,Phase 1
20 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
21 Prednisolone hemisuccinate Phase 2, Phase 3
22 Prednisolone phosphate Phase 2, Phase 3
23 Liver Extracts Phase 3
24 Lipid Regulating Agents Phase 3,Not Applicable
25 Antilymphocyte Serum Phase 2, Phase 3
26 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
27 Antimetabolites Phase 3,Phase 2,Not Applicable
28 Bile Acids and Salts Phase 3,Not Applicable
29 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
30 Pharmaceutical Solutions Phase 2, Phase 3
31 Folate Nutraceutical Phase 2, Phase 3
32 Vitamin B7 Nutraceutical Phase 2, Phase 3
33 Vitamin B9 Nutraceutical Phase 2, Phase 3
34
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
35
Hydroxyurea Approved Phase 2 127-07-1 3657
36
Mesna Approved, Investigational Phase 2 3375-50-6 598
37
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
38
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
39
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
40
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
41
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
42
Mycophenolate mofetil Approved, Investigational Phase 2,Not Applicable 128794-94-5 5281078
43
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
44
rituximab Approved Phase 2 174722-31-7 10201696
45
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
46
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
47
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
48
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
49 tannic acid Approved, Nutraceutical Phase 2,Not Applicable
50
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
2 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
3 MD1003-AMN MD1003 in Adrenomyeloneuropathy Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
4 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
5 A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. Recruiting NCT03231878 Phase 2, Phase 3 MIN-102;Placebos
6 A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Active, not recruiting NCT01896102 Phase 2, Phase 3
7 Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
8 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
9 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
10 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
11 A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants Completed NCT01495260 Phase 2 N-acetylcysteine;lipoic acid;vitamin E
12 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2 Canakinumab
13 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
14 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
15 Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Recruiting NCT03196765 Phase 1, Phase 2 Sobetirome (NV1205)
16 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1, Phase 2
17 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
18 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
19 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases Not yet recruiting NCT03367546 Phase 2
20 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
21 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
22 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
23 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
24 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
25 Study of Protein Translocation in Patients With Beta-Oxidation Disorders Unknown status NCT00004348
26 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044 Not Applicable
27 Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency Unknown status NCT00260299
28 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
29 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
30 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853 Not Applicable
31 The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Not Applicable Bezafibrate
32 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 Not Applicable glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
33 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
34 The REPLACE Registry Recruiting NCT03115086
35 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Recruiting NCT03440905
36 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Recruiting NCT03278899
37 Newborn Screening for Adrenoleukodystrophy Recruiting NCT02952482
38 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
39 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
40 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
41 Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases Not yet recruiting NCT03163771
42 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil
43 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable chenodeoxycholic acid;cholic acid;ursodiol
44 Early Diagnosis Of Childhood Cerebral ALD Withdrawn NCT02948062
45 B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency Withdrawn NCT01568736

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

Publications for Peroxisomal Biogenesis Disorders

Articles related to Peroxisomal Biogenesis Disorders:

(show top 50) (show all 93)
# Title Authors Year
1
Novel retinal findings in peroxisomal biogenesis disorders. ( 29377746 )
2018
2
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. ( 28129423 )
2017
3
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. ( 26750748 )
2016
4
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. ( 27230853 )
2016
5
Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency. ( 26947510 )
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
Peripheral nervous system defects in a mouse model for peroxisomal biogenesis disorders. ( 25176044 )
2014
8
Zellweger syndrome - a lethal peroxisome biogenesis disorder. ( 23327810 )
2013
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
First PEX11I^ patient extends spectrum of peroxisomal biogenesis disorder phenotypes. ( 22581969 )
2012
13
Genetics and molecular basis of human peroxisome biogenesis disorders. ( 22871920 )
2012
14
Molecular basis of peroxisomal biogenesis disorders caused by defects in peroxisomal matrix protein import. ( 22617146 )
2012
15
Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders. ( 23430824 )
2011
16
A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders. ( 21669930 )
2011
17
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. ( 21846392 )
2011
18
A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder. ( 20683989 )
2010
19
alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders. ( 19830841 )
2010
20
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. ( 20647552 )
2010
21
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. ( 19105186 )
2009
22
Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders. ( 18793625 )
2008
23
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
24
Peroxisome biogenesis disorders. ( 17055079 )
2006
25
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
26
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. ( 16086329 )
2005
27
Peroxisome biogenesis disorders: the role of peroxisomes and metabolic dysfunction in developing brain. ( 15868469 )
2005
28
An overview of peroxisomal biogenesis disorders. ( 15875330 )
2005
29
Molecular and neurologic findings of peroxisome biogenesis disorders. ( 15921234 )
2005
30
Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder. ( 16006427 )
2005
31
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ( 15679822 )
2005
32
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. ( 14630978 )
2004
33
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. ( 14872027 )
2004
34
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. ( 15184617 )
2004
35
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. ( 15098231 )
2004
36
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. ( 15542397 )
2004
37
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. ( 15146459 )
2004
38
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. ( 14571262 )
2004
39
Is there a phenotype/genotype correlation in peroxisome biogenesis disorders (PBDs)? ( 14713213 )
2003
40
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. ( 12794690 )
2003
41
Lessons from knockout mice. I: Phenotypes of mice with peroxisome biogenesis disorders. ( 14713222 )
2003
42
Modeling human peroxisome biogenesis disorders in the nematode Caenorhabditis elegans. ( 12665560 )
2003
43
Biochemical markers predicting survival in peroxisome biogenesis disorders. ( 14713214 )
2003
44
Disturbances of valine metabolism in patients with peroxisomal biogenesis disorders. ( 14713217 )
2003
45
Mutations in novel peroxin gene PEX26 that cause peroxisome- biogenesis disorders of complementation group 8 provide a genotype- phenotype correlation. ( 12851857 )
2003
46
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
47
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. ( 11992258 )
2002
48
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. ( 12402331 )
2002
49
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
50
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. ( 11873320 )
2002

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 9.36 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 12)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.91 BCAP31 PEX1 PEX13 PEX5 PEX7
2 neuron migration GO:0001764 9.67 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 9.48 ABCD1 HSD17B4
6 alpha-linolenic acid metabolic process GO:0036109 9.46 ABCD1 HSD17B4
7 protein targeting to peroxisome GO:0006625 9.46 PEX1 PEX12 PEX6 PEX7
8 cerebral cortex cell migration GO:0021795 9.43 PEX13 PEX5
9 protein import into peroxisome membrane GO:0045046 9.4 PEX3 PEX5
10 protein import into peroxisome matrix, docking GO:0016560 9.37 PEX13 PEX5
11 microtubule-based peroxisome localization GO:0060152 9.32 PEX1 PEX13
12 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:

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.5 PEX1 PEX12 PEX6
2 signaling receptor binding GO:0005102 9.46 CAT F2R HSD17B4 PIPOX
3 protein-containing complex binding GO:0044877 9.43 BCAP31 PEX1 PEX6
4 ATPase activity, coupled GO:0042623 8.96 PEX1 PEX6
5 enzyme binding GO:0019899 8.92 ABCD1 CAT PEX5 PEX7

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
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