MCID: PRX001
MIFTS: 46

Peroxisomal Disease

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Peroxisomal Disease

MalaCards integrated aliases for Peroxisomal Disease:

Name: Peroxisomal Disease 12 20 58 15
Peroxisomal Disorders 54 44 70
Peroxisomal Disorder 12 6
Peroxisomal Defects 73 20
Disorder of Peroxisomal Function 20
Peroxisome Disorders 20
Peroxisome Diseases 20

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:906
ICD9CM 34 277.86
MeSH 44 D018901
NCIt 50 C85005
SNOMED-CT 67 238059005
ICD10 32 E71.5
MESH via Orphanet 45 D018901
UMLS via Orphanet 71 C0282528
Orphanet 58 ORPHA68373
UMLS 70 C0282528

Summaries for Peroxisomal Disease

Disease Ontology : 12 An inherited metabolic disorder that involves peroxisome malfunction.

MalaCards based summary : Peroxisomal Disease, also known as peroxisomal disorders, is related to acatalasemia and d-bifunctional protein deficiency. An important gene associated with Peroxisomal Disease is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways are Peroxisome and alpha-linolenic acid (ALA) metabolism. The drugs Betaine and Cholic Acids have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and cerebellum, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.... more...

Related Diseases for Peroxisomal Disease

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

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 acatalasemia 31.9 SLC25A17 CAT
2 d-bifunctional protein deficiency 31.8 HSD17B4 HADHB ABCD1
3 rhizomelic chondrodysplasia punctata, type 5 31.6 PEX7 PEX5 GNPAT AGPS
4 rhizomelic chondrodysplasia punctata, type 3 31.6 PHYH PEX7 PEX5 GNPAT AGPS
5 rhizomelic chondrodysplasia punctata, type 2 31.6 PHYH PEX7 PEX5 GNPAT AGPS
6 alpha-methylacyl-coa racemase deficiency 31.5 PEX6 HSD17B4
7 rhizomelic chondrodysplasia punctata, type 1 31.0 PHYH PEX7 PEX6 PEX5 PEX13 HSD17B4
8 peroxisome biogenesis disorder 1a 31.0 PEX6 PEX5 PEX2 PEX13 PEX12 PEX10
9 adrenomyeloneuropathy 31.0 SLC25A17 ABCD1
10 mulibrey nanism 30.2 TRIM37 PEX7 PEX5 PEX1
11 peroxisome biogenesis disorder 1b 30.1 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX2
12 neonatal adrenoleukodystrophy 29.8 PEX6 PEX5 PEX2 PEX13 PEX12 PEX10
13 zellweger spectrum disorder 29.6 PEX6 PEX5 PEX2 PEX13 PEX12 PEX10
14 adrenoleukodystrophy 29.6 SLC25A17 PEX7 PEX6 PEX5 PEX2 PEX13
15 sensorineural hearing loss 29.6 PEX6 PEX5 PEX2 PEX13 PEX12 PEX10
16 fundus dystrophy 29.4 SLC25A17 PHYH PEX7 PEX6 PEX12 PEX1
17 leukodystrophy 29.1 SLC25A17 PEX6 PEX5 PEX2 PEX13 PEX12
18 chondrodysplasia punctata syndrome 29.0 PHYH PEX7 PEX6 PEX5 PEX2 PEX13
19 peroxisomal biogenesis disorder 28.8 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX2
20 zellweger syndrome 28.7 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX2
21 refsum disease, classic 28.6 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX2
22 rhizomelic chondrodysplasia punctata 28.1 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX2
23 autosomal recessive ataxia due to pex10 deficiency 11.0
24 peroxisomal disease with epilepsy 11.0
25 peroxisomal acyl-coa oxidase deficiency 10.9
26 peroxisomal fatty acyl-coa reductase 1 disorder 10.9
27 glutaric aciduria iii 10.9
28 mevalonic aciduria 10.9
29 x-linked cerebral adrenoleukodystrophy 10.9
30 peroxisome biogenesis disorder 2a 10.9
31 peroxisome biogenesis disorder 3a 10.9
32 peroxisome biogenesis disorder 4a 10.9
33 peroxisome biogenesis disorder 5a 10.9
34 peroxisome biogenesis disorder 6a 10.9
35 peroxisome biogenesis disorder 7a 10.9
36 peroxisome biogenesis disorder 8a 10.9
37 peroxisome biogenesis disorder 9b 10.9
38 peroxisome biogenesis disorder 10a 10.9
39 peroxisome biogenesis disorder 11a 10.9
40 peroxisome biogenesis disorder 12a 10.9
41 peroxisome biogenesis disorder 13a 10.9
42 chronic polyneuropathy 10.3 PHYH PEX7
43 cerebral degeneration 10.2 SLC25A17 APP ABCD1
44 hypomagnesemia 1, intestinal 10.2 PEX12 PEX1
45 erysipelas 10.1 MVK CAT
46 heimler syndrome 1 10.0 PEX6 PEX1
47 retinitis pigmentosa 10.0
48 yemenite deaf-blind hypopigmentation syndrome 10.0
49 branchiootic syndrome 1 10.0
50 neuroretinitis 10.0

Graphical network of the top 20 diseases related to Peroxisomal Disease:



Diseases related to Peroxisomal Disease

Symptoms & Phenotypes for Peroxisomal Disease

GenomeRNAi Phenotypes related to Peroxisomal Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.53 AGPS AGXT SLC25A17
2 Decreased viability GR00381-A-1 9.53 AGXT GNPAT PHYH
3 Decreased viability GR00386-A-1 9.53 AGPS HADHB PEX13 SLC25A17
4 Decreased viability GR00402-S-2 9.53 ABCD1 PEX10 PEX12 PEX13 PEX2 PEX7

MGI Mouse Phenotypes related to Peroxisomal Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.29 ABCD1 APP GNPAT HSD17B4 MVK PEX1
2 homeostasis/metabolism MP:0005376 10.27 ABCD1 AGPS AGXT APP CAT GNPAT
3 growth/size/body region MP:0005378 10.22 APP GNPAT HADHB HSD17B4 MVK PEX1
4 cellular MP:0005384 10.2 APP CAT GNPAT HSD17B4 PEX1 PEX10
5 endocrine/exocrine gland MP:0005379 10.17 ABCD1 AGPS GNPAT HSD17B4 MVK PEX1
6 mortality/aging MP:0010768 10.16 ABCD1 AGPS APP CAT GNPAT HADHB
7 liver/biliary system MP:0005370 9.97 HADHB HSD17B4 PEX1 PEX13 PEX2 PEX5
8 nervous system MP:0003631 9.77 ABCD1 APP GNPAT HSD17B4 MVK PEX1
9 muscle MP:0005369 9.7 APP HADHB HSD17B4 PEX13 PEX5 PEX7
10 reproductive system MP:0005389 9.36 ABCD1 AGPS APP GNPAT HSD17B4 MVK

Drugs & Therapeutics for Peroxisomal Disease

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

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7, 6915-17-9 248
2 Cholic Acids Phase 3
3 Gastrointestinal Agents Phase 3
4 Bile Acids and Salts Phase 3
5 Antimetabolites Phase 3
6 Liver Extracts Phase 3
7 Hypolipidemic Agents Phase 3
8 Lipid Regulating Agents Phase 3
9
tannic acid Approved Phase 2 1401-55-4
10
Melphalan Approved Phase 2 148-82-3 4053 460612
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
13
Mycophenolic acid Approved Phase 2 24280-93-1 446541
14
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
15
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
16
Hydroxyurea Approved Phase 2 127-07-1 3657
17
Mesna Approved, Investigational Phase 2 3375-50-6 598
18
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
19
alemtuzumab Approved, Investigational Phase 2 216503-57-0
20
Busulfan Approved, Investigational Phase 2 55-98-1 2478
21
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
22
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
23
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
24
Tocopherol Approved, Investigational Phase 2 1406-66-2
25
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
26
rituximab Approved Phase 2 174722-31-7 10201696
27
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
28 Tocotrienol Investigational Phase 2 6829-55-6
29 Antirheumatic Agents Phase 2
30 Antineoplastic Agents, Immunological Phase 2
31 Immunosuppressive Agents Phase 2
32 Antibiotics, Antitubercular Phase 2
33 Anti-Bacterial Agents Phase 2
34 Antitubercular Agents Phase 2
35 Antifungal Agents Phase 2
36 Calcineurin Inhibitors Phase 2
37 Cyclosporins Phase 2
38 Anti-Infective Agents Phase 2
39 Alkylating Agents Phase 2
40 Immunologic Factors Phase 2
41 Dermatologic Agents Phase 2
42 Alpha-lipoic Acid Phase 2
43 Tocotrienols Phase 2
44 Antilymphocyte Serum Phase 2
45 Vitamins Phase 2
46 N-monoacetylcystine Phase 2
47 Thioctic Acid Phase 2
48 Tocopherols Phase 2
49
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
50
chenodeoxycholic acid Approved 474-25-9 10133

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism Completed NCT00007020 Phase 3 Cholic Acids
2 A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders. Completed NCT01838941 Phase 3 Betaine
3 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
4 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
5 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG 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)
6 Study of Protein Translocation in Patients With Beta-Oxidation Disorders Unknown status NCT00004348
7 Treatment of High Risk, Inherited Lysosomal and Peroxisomal Disorders by Reduced-Intensity Hematopoietic Cell Transplantation and Low-Dose Total Body Irradiation With Marrow Boosting by Volumetric-Modulated Arc Therapy (VMAT) Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
8 Peroxisomal Defects and Familial Risk for Bipolar Disorder Completed NCT01237379
9 Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases Recruiting NCT03163771
10 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
11 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Peroxisomal Disease

Cochrane evidence based reviews: peroxisomal disorders

Genetic Tests for Peroxisomal Disease

Anatomical Context for Peroxisomal Disease

MalaCards organs/tissues related to Peroxisomal Disease:

40
Liver, Skin, Cerebellum, Cortex, Retina, Eye, Smooth Muscle

Publications for Peroxisomal Disease

Articles related to Peroxisomal Disease:

(show top 50) (show all 633)
# Title Authors PMID Year
1
Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance. 54 61
16449325 2006
2
Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency. 54 61
12948743 2003
3
Identification of peroxisomal membrane proteins of Saccharomyces cerevisiae by mass spectrometry. 61 54
11565790 2001
4
Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group. 61 54
11330053 2000
5
Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts. 61 54
10683770 1999
6
Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders. 61 54
10384985 1999
7
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. 61 54
9843043 1998
8
Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. 61 54
9539740 1998
9
Dihydroxyacetone phosphate acyltransferase. 54 61
9370313 1997
10
Convergence of model systems for peroxisome biogenesis. 61 54
8791450 1996
11
Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders. 54 61
8521871 1995
12
Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders. 54 61
7790377 1995
13
Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells. 54 61
9053559 1995
14
Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids. 54 61
7510868 1993
15
Peroxisomal disorders in children: immunohistochemistry and neuropathology. 61 54
8463903 1993
16
Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders. 54 61
8105143 1993
17
Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction. 61 54
2295968 1990
18
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes. 61
33389129 2021
19
Plasmalogen-Based Liquid Crystalline Multiphase Structures Involving Docosapentaenoyl Derivatives Inspired by Biological Cubic Membranes. 61
33644054 2021
20
Orphan Peripheral Neuropathies. 61
32986679 2021
21
Anti-oxidant MitoQ rescue of AWB chemosensory neuron impairment in a C. elegans model of X-linked Adrenoleukodystrophy. 61
33474532 2021
22
Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders. 61
33510602 2020
23
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM). 61
32399598 2020
24
Hepatocyte-specific deletion of peroxisomal protein PEX13 results in disrupted iron homeostasis. 61
32565019 2020
25
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. 61
32866347 2020
26
Chronic Progressive Spastic Paraparesis: Think of Peroxisomal Disorders - A Case Report of X-Linked Adult Onset Adrenoleukodystrophy With an Update on The Latest Treatment Strategies. 61
32923227 2020
27
Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG). 61
31822849 2020
28
Fit-for-purpose biomarker LC-MS/MS qualification for the quantitation of very long chain fatty acids in human cerebrospinal fluid. 61
32052644 2020
29
Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders. 61
32946460 2020
30
Peroxisome-Deficiency and HIF-2α Signaling Are Negative Regulators of Ketohexokinase Expression. 61
32733884 2020
31
Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation. 61
33417208 2020
32
Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders. 61
33417207 2020
33
Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders. 61
32903870 2020
34
7-Ketocholesterol- and 7β-Hydroxycholesterol-Induced Peroxisomal Disorders in Glial, Microglial and Neuronal Cells: Potential Role in Neurodegeneration : 7-ketocholesterol and 7β-hydroxycholesterol-Induced Peroxisomal Disorders and Neurodegeneration. 61
33417205 2020
35
Peroxisomal Dysfunction and Oxidative Stress in Neurodegenerative Disease: A Bidirectional Crosstalk. 61
33417204 2020
36
Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy. 61
31777199 2020
37
Pediatric liver diseases and ocular changes: What hepatologists and ophthalmologists should know and share with each other. 61
31843253 2020
38
Clinical characteristics and phenotype distribution in 10 Chinese patients with X-linked adrenoleukodystrophy. 61
31452695 2019
39
SIRT1 activation alleviates brain microvascular endothelial dysfunction in peroxisomal disorders. 61
31257461 2019
40
ACOX1 destabilizes p73 to suppress intrinsic apoptosis pathway and regulates sensitivity to doxorubicin in lymphoma cells. 61
31401980 2019
41
Rapid liquid chromatography-tandem mass spectrometry to determine very-long-chain fatty acids in human and to establish reference intervals for the Chinese population. 61
30978326 2019
42
Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies. 61
31113002 2019
43
Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians. 61
30883825 2019
44
Differential distribution of peroxisomal proteins points to specific roles of peroxisomes in the murine retina. 61
30604065 2019
45
Late onset adrenoleukodystrophy: A review related clinical case report. 61
30671550 2019
46
Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan. 61
30237433 2019
47
Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders. 61
30640048 2019
48
The many faces of peroxisomal disorders: Lessons from a large Arab cohort. 61
30561787 2019
49
Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders. 61
30295825 2019
50
X-linked adrenoleukodystrophy diagnosed in three brothers. 61
31343142 2019

Variations for Peroxisomal Disease

ClinVar genetic disease variations for Peroxisomal Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX1 NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) SNV Pathogenic 7516 rs61750420 GRCh37: 7:92130876-92130876
GRCh38: 7:92501562-92501562

Expression for Peroxisomal Disease

Search GEO for disease gene expression data for Peroxisomal Disease.

Pathways for Peroxisomal Disease

GO Terms for Peroxisomal Disease

Cellular components related to Peroxisomal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.31 SLC25A17 PEX6 PEX5 PEX2 PEX13 PEX12
2 cytosol GO:0005829 10.17 TRIM37 PHYH PEX7 PEX6 PEX5 PEX1
3 mitochondrion GO:0005739 10.01 PHYH PEX5 HADHB GNPAT CAT AGXT
4 peroxisomal membrane GO:0005778 9.8 SLC25A17 PEX7 PEX6 PEX5 PEX2 PEX13
5 peroxisomal matrix GO:0005782 9.76 PHYH PEX7 PEX5 HSD17B4 GNPAT CAT
6 integral component of peroxisomal membrane GO:0005779 9.73 SLC25A17 PEX2 PEX13 PEX12 PEX10 ABCD1
7 peroxisome GO:0005777 9.58 TRIM37 SLC25A17 PHYH PEX7 PEX6 PEX5
8 peroxisomal importomer complex GO:1990429 9.37 PEX13 PEX12

Biological processes related to Peroxisomal Disease according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.97 TRIM37 PEX5 PEX2 PEX13 PEX12 PEX10
2 fatty acid metabolic process GO:0006631 9.81 PHYH HSD17B4 HADHB GNPAT
3 fatty acid beta-oxidation GO:0006635 9.8 SLC25A17 PEX7 PEX5 PEX2 HSD17B4 HADHB
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.79 TRIM37 CAT APP
5 neuron migration GO:0001764 9.76 PEX7 PEX5 PEX13
6 cholesterol metabolic process GO:0008203 9.75 MVK CAT APP
7 protein import into peroxisome matrix GO:0016558 9.7 PEX7 PEX6 PEX5 PEX2 PEX12 PEX10
8 very long-chain fatty acid metabolic process GO:0000038 9.62 PEX5 PEX2 HSD17B4 ABCD1
9 response to fatty acid GO:0070542 9.61 GNPAT CAT
10 cellular lipid metabolic process GO:0044255 9.6 PEX5 GNPAT
11 response to lead ion GO:0010288 9.59 CAT APP
12 fatty acid alpha-oxidation GO:0001561 9.58 SLC25A17 PHYH PEX13
13 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.57 HSD17B4 ABCD1
14 alpha-linolenic acid metabolic process GO:0036109 9.56 HSD17B4 ABCD1
15 peroxisome organization GO:0007031 9.56 PEX7 PEX6 PEX5 PEX2 PEX12 PEX10
16 suckling behavior GO:0001967 9.55 PEX13 APP
17 neuron projection maintenance GO:1990535 9.54 APP ABCD1
18 ether lipid biosynthetic process GO:0008611 9.54 PEX7 GNPAT AGPS
19 cerebral cortex cell migration GO:0021795 9.52 PEX5 PEX13
20 protein import into peroxisome matrix, docking GO:0016560 9.48 PEX5 PEX13
21 protein targeting to peroxisome GO:0006625 9.47 PHYH PEX7 PEX6 PEX5 PEX2 PEX13
22 protein import into peroxisome matrix, translocation GO:0016561 9.46 PEX6 PEX5
23 microtubule-based peroxisome localization GO:0060152 9.43 PEX13 PEX1

Molecular functions related to Peroxisomal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.8 PHYH HADHB GNPAT AGXT AGPS
2 enzyme binding GO:0019899 9.65 PEX7 PEX5 CAT APP ABCD1
3 protein homodimerization activity GO:0042803 9.63 TRIM37 PEX7 HSD17B4 CAT AGXT ABCD1
4 enoyl-CoA hydratase activity GO:0004300 9.37 HSD17B4 HADHB
5 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.32 HSD17B4 HADHB
6 protein C-terminus binding GO:0008022 9.02 PEX6 PEX5 PEX12 PEX10 PEX1
7 peroxisome targeting sequence binding GO:0000268 8.96 PEX5 CAT

Sources for Peroxisomal Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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