MCID: PRX005
MIFTS: 35

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
Disorders of Peroxisome Biogenesis 20
Peroxisomal Biogenesis Disorders 20
Peroxisome Biogenesis Disorders 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0080377
UMLS 70 C1832200

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 disorders of peroxisome biogenesis, is related to heimler syndrome 1 and rhizomelic chondrodysplasia punctata, type 3. An important gene associated with Peroxisomal Biogenesis Disorder is PEX12 (Peroxisomal Biogenesis Factor 12), and among its related pathways/superpathways are Peroxisome and Peroxisomal lipid metabolism. The drugs Betaine and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include ovary, cerebellum and prostate, and related phenotypes are Decreased viability and Decreased viability

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 68)
# Related Disease Score Top Affiliating Genes
1 heimler syndrome 1 32.5 PEX6 PEX1
2 rhizomelic chondrodysplasia punctata, type 3 31.8 PEX7 PEX5 GNPAT AGPS
3 rhizomelic chondrodysplasia punctata, type 2 31.5 PEX7 PEX5 PEX16 PEX11A GNPAT AGPS
4 peroxisome biogenesis disorder 1a 30.8 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
5 zellweger spectrum disorder 29.4 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
6 zellweger syndrome 29.4 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
7 neonatal adrenoleukodystrophy 29.2 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
8 chondrodysplasia punctata syndrome 29.0 PEX7 PEX6 PEX5 PEX26 PEX2 PEX19
9 leukodystrophy 28.7 SLC25A17 PEX6 PEX5 PEX3 PEX26 PEX2
10 adrenoleukodystrophy 28.4 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
11 peroxisomal disease 27.8 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
12 peroxisome biogenesis disorder 1b 27.8 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
13 rhizomelic chondrodysplasia punctata 27.6 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
14 refsum disease, classic 27.6 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
15 heimler syndrome 2 11.6
16 peroxisome biogenesis disorder 3a 11.3
17 peroxisome biogenesis disorder 4a 11.3
18 peroxisome biogenesis disorder 5a 11.3
19 peroxisome biogenesis disorder 12a 11.2
20 peroxisome biogenesis disorder 2b 11.2
21 peroxisome biogenesis disorder 2a 11.2
22 peroxisome biogenesis disorder 6a 11.2
23 peroxisome biogenesis disorder 7a 11.2
24 peroxisome biogenesis disorder 8a 11.2
25 peroxisome biogenesis disorder 10a 11.2
26 peroxisome biogenesis disorder 11a 11.2
27 peroxisome biogenesis disorder 13a 11.2
28 hypotonia 10.3
29 keratosis follicularis spinulosa decalvans 10.2 PEX3 PEX19 PEX16
30 cholestasis 10.2
31 prostate transitional cell carcinoma 10.2 SLC25A17 ABCD3
32 hypomagnesemia 1, intestinal 10.1 PEX26 PEX12 PEX1
33 mulibrey nanism 10.1 PEX7 PEX5 PEX1
34 alpha-methylacyl-coa racemase deficiency 10.1 PEX6 PEX16 PEX11B HSD17B4
35 acatalasemia 10.1 SLC25A17 PEX3 PEX19 PEX11A
36 rhizomelic chondrodysplasia punctata, type 5 10.1 PEX7 PEX5 GNPAT AGPS
37 retinitis pigmentosa 10.0
38 retinitis pigmentosa-deafness syndrome 10.0
39 gallbladder disease 1 10.0
40 branchiootic syndrome 1 10.0
41 peroxisome biogenesis disorder 4b 10.0
42 peroxisome biogenesis disorder 14b 10.0
43 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
44 proteinuria, chronic benign 10.0
45 usher syndrome 10.0
46 autosomal recessive disease 10.0
47 metabolic acidosis 10.0
48 hypomyelinating leukodystrophy 10.0
49 neuroretinitis 10.0
50 bilirubin metabolic disorder 10.0

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



Diseases related to Peroxisomal Biogenesis Disorder

Symptoms & Phenotypes for Peroxisomal Biogenesis Disorder

GenomeRNAi Phenotypes related to Peroxisomal Biogenesis Disorder according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.6 PEX16 PEX26
2 Decreased viability GR00249-S 9.6 AGPS PEX3 SLC25A17
3 Decreased viability GR00381-A-1 9.6 GNPAT
4 Decreased viability GR00386-A-1 9.6 AGPS PEX13 PEX16 PEX19 PEX26 SLC25A17
5 Decreased viability GR00402-S-2 9.6 ABCD3 PEX10 PEX12 PEX13 PEX2 PEX26

MGI Mouse Phenotypes related to Peroxisomal Biogenesis Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 ABCD3 GNPAT HSD17B4 PEX1 PEX10 PEX11B
2 growth/size/body region MP:0005378 10.07 ABCD3 GNPAT HSD17B4 PEX1 PEX10 PEX11A
3 homeostasis/metabolism MP:0005376 10 ABCD3 AGPS GNPAT HSD17B4 PEX1 PEX10
4 endocrine/exocrine gland MP:0005379 9.97 AGPS GNPAT HSD17B4 PEX1 PEX13 PEX2
5 liver/biliary system MP:0005370 9.61 ABCD3 HSD17B4 PEX1 PEX11A PEX11B PEX13
6 mortality/aging MP:0010768 9.47 AGPS GNPAT HSD17B4 PEX1 PEX10 PEX11A

Drugs & Therapeutics for Peroxisomal Biogenesis Disorder

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7, 6915-17-9 248
2 Antimetabolites Phase 3
3 Gastrointestinal Agents Phase 3
4 Hypolipidemic Agents Phase 3
5 Lipid Regulating Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders. Completed NCT01838941 Phase 3 Betaine
2 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186

Search NIH Clinical Center for Peroxisomal Biogenesis Disorder

Genetic Tests for Peroxisomal Biogenesis Disorder

Anatomical Context for Peroxisomal Biogenesis Disorder

MalaCards organs/tissues related to Peroxisomal Biogenesis Disorder:

40
Ovary, Cerebellum, Prostate, Brain

Publications for Peroxisomal Biogenesis Disorder

Articles related to Peroxisomal Biogenesis Disorder:

(show top 50) (show all 255)
# Title Authors PMID Year
1
Hypomyelinating leukodystrophies in adults: Clinical and genetic features. 61
33190326 2021
2
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B. 61
33586206 2021
3
Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review. 61
33101983 2020
4
Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder. 61
32693164 2020
5
Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report. 61
33213396 2020
6
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder. 61
33123925 2020
7
Recent insights into peroxisome biogenesis and associated diseases. 61
32393673 2020
8
A peroxisome deficiency-induced reductive cytosol state up-regulates the brain-derived neurotrophic factor pathway. 61
33509577 2020
9
A peroxisome deficiency-induced reductive cytosol state up-regulates the brain-derived neurotrophic factor pathway. 61
32165495 2020
10
Heimler Syndrome. 61
33417209 2020
11
A Mouse Model System to Study Peroxisomal Roles in Neurodegeneration of Peroxisome Biogenesis Disorders. 61
33417212 2020
12
Peroxisome Biogenesis Disorders. 61
33417206 2020
13
Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing. 61
31724321 2020
14
Peroxisome Deficiency Impairs BDNF Signaling and Memory. 61
33163488 2020
15
Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex. 61
31374812 2019
16
Peroxisomal dysfunction in neurodegenerative diseases. 61
30739266 2019
17
Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan. 61
30237433 2019
18
Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders. 61
30640048 2019
19
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss. 61
31884617 2019
20
Peroxisome biogenesis deficiency attenuates the BDNF-TrkB pathway-mediated development of the cerebellum. 61
30519675 2018
21
Peroxisome-targeted Supramolecular Nanoprobes Assembled with Pyrene-labelled Peptide Amphiphiles. 61
29956888 2018
22
Pexophagy in yeast and mammals: an update on mysteries. 61
30238155 2018
23
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. 61
29419819 2018
24
[The importance of semiology and biochemistry in the diagnostic management of a peroxisomal biogenesis disorder]. 61
30289153 2018
25
Autonomous Purkinje cell axonal dystrophy causes ataxia in peroxisomal multifunctional protein-2 deficiency. 61
29341299 2018
26
Clinical and Neuroimaging Spectrum of Peroxisomal Disorders. 61
30086110 2018
27
Novel retinal findings in peroxisomal biogenesis disorders. 61
29377746 2018
28
Plasma lipidomics as a diagnostic tool for peroxisomal disorders. 61
29209936 2018
29
Peroxisome Protein Prediction in Drosophila melanogaster. 61
30378026 2018
30
The peroxisomal AAA-ATPase Pex1/Pex6 unfolds substrates by processive threading. 61
29321502 2018
31
Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report. 61
28784167 2017
32
The PEX1 ATPase Stabilizes PEX6 and Plays Essential Roles in Peroxisome Biology. 61
28600347 2017
33
Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing. 61
28432012 2017
34
Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse. 61
28640802 2017
35
The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders. 61
28521612 2017
36
Pexophagy is responsible for 65% of cases of peroxisome biogenesis disorders. 61
28318378 2017
37
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype. 61
28320181 2017
38
Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder. 61
27557811 2017
39
Peroxisomal Membrane and Matrix Protein Import Using a Semi-Intact Mammalian Cell System. 61
28409465 2017
40
Generation of Peroxisome-Deficient Somatic Animal Cell Mutants. 61
28409474 2017
41
Peroxisome biogenesis disorders. 61
29152457 2016
42
Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry. 61
27440509 2016
43
A novel method for determining peroxisomal fatty acid β-oxidation. 61
27324171 2016
44
Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency. 61
26947510 2016
45
Peroxisomes in brain development and function. 61
26686055 2016
46
Human disorders of peroxisome metabolism and biogenesis. 61
26611709 2016
47
A Systematic Cell-Based Analysis of Localization of Predicted Drosophila Peroxisomal Proteins. 61
26865094 2016
48
Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 61
27090541 2016
49
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. 61
26750748 2016
50
Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder. 61
26700162 2016

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 11.54 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
2
Show member pathways
10.98 SLC25A17 HSD17B4 GNPAT AGPS
3
Show member pathways
10.52 GNPAT AGPS

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 membrane GO:0016020 10.35 SLC25A17 PEX6 PEX5 PEX3 PEX26 PEX2
2 integral component of membrane GO:0016021 10.25 SLC25A17 PEX3 PEX26 PEX2 PEX19 PEX16
3 peroxisomal membrane GO:0005778 9.96 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
4 protein-containing complex GO:0032991 9.88 PEX5 PEX3 PEX19 PEX14 PEX11B PEX11A
5 integral component of peroxisomal membrane GO:0005779 9.85 SLC25A17 PEX3 PEX26 PEX2 PEX16 PEX13
6 peroxisomal matrix GO:0005782 9.73 PEX7 PEX5 HSD17B4 GNPAT AGPS ABCD3
7 peroxisome GO:0005777 9.62 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
8 peroxisomal importomer complex GO:1990429 9.5 PEX14 PEX13 PEX12

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.02 PEX7 PEX5 PEX26 PEX14 PEX13 PEX1
2 protein ubiquitination GO:0016567 10.01 PEX5 PEX2 PEX14 PEX13 PEX12 PEX10
3 protein import into peroxisome matrix GO:0016558 9.85 PEX7 PEX6 PEX5 PEX26 PEX2 PEX16
4 fatty acid beta-oxidation GO:0006635 9.8 SLC25A17 PEX7 PEX5 PEX2 HSD17B4 ABCD3
5 peroxisome organization GO:0007031 9.8 PEX7 PEX6 PEX5 PEX3 PEX2 PEX19
6 neuron migration GO:0001764 9.75 PEX7 PEX5 PEX13
7 very long-chain fatty acid metabolic process GO:0000038 9.67 PEX5 PEX2 HSD17B4
8 peroxisome membrane biogenesis GO:0016557 9.67 PEX3 PEX19 PEX16 PEX11A
9 peroxisome fission GO:0016559 9.65 PEX19 PEX11B PEX11A
10 protein import into peroxisome membrane GO:0045046 9.65 PEX5 PEX3 PEX26 PEX19 PEX16
11 ether lipid biosynthetic process GO:0008611 9.63 PEX7 GNPAT AGPS
12 protein import into peroxisome matrix, docking GO:0016560 9.61 PEX5 PEX14 PEX13
13 cellular lipid metabolic process GO:0044255 9.58 PEX5 GNPAT
14 protein import into peroxisome matrix, translocation GO:0016561 9.58 PEX6 PEX5 PEX14
15 cerebral cortex cell migration GO:0021795 9.57 PEX5 PEX13
16 fatty acid alpha-oxidation GO:0001561 9.56 SLC25A17 PEX13
17 regulation of peroxisome size GO:0044375 9.52 PEX11B PEX11A
18 microtubule-based peroxisome localization GO:0060152 9.51 PEX13 PEX1
19 protein targeting to peroxisome GO:0006625 9.5 PEX7 PEX6 PEX5 PEX26 PEX2 PEX19

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.65 PEX7 PEX11B PEX11A HSD17B4 ABCD3
2 protein N-terminus binding GO:0047485 9.33 PEX5 PEX19 PEX14
3 protein C-terminus binding GO:0008022 9.17 PEX6 PEX5 PEX26 PEX16 PEX12 PEX10
4 peroxisome membrane targeting sequence binding GO:0033328 8.96 PEX5 PEX19

Sources for Peroxisomal Biogenesis Disorder

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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