MCID: PRX001
MIFTS: 45

Peroxisomal Disease

Categories: Metabolic diseases

Aliases & Classifications for Peroxisomal Disease

MalaCards integrated aliases for Peroxisomal Disease:

Name: Peroxisomal Disease 12 15
Peroxisomal Disorders 55 44 73
Peroxisomal Disorder 12
Peroxisomal Defects 76

Classifications:



External Ids:

Disease Ontology 12 DOID:906
ICD10 33 E71.5 E71.50
ICD9CM 35 277.86
MeSH 44 D018901
NCIt 50 C85005
UMLS 73 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 rhizomelic chondrodysplasia punctata, type 3 and alpha-methylacyl-coa racemase deficiency. An important gene associated with Peroxisomal Disease is GNPAT (Glyceronephosphate O-Acyltransferase), and among its related pathways/superpathways are Metabolism and Peroxisome. Affiliated tissues include brain, skin and liver, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : 76 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 52)
# Related Disease Score Top Affiliating Genes
1 rhizomelic chondrodysplasia punctata, type 3 31.4 AGPS GNPAT PEX5 PEX7
2 alpha-methylacyl-coa racemase deficiency 31.4 HSD17B4 PHYH
3 acatalasemia 31.4 CAT PEX5
4 refsum disease, classic 31.3 CAT GNPAT HSD17B4 PEX5 PEX7 PHYH
5 d-bifunctional protein deficiency 31.2 CAT HADHB HSD17B4 PEX5
6 zellweger syndrome 31.2 AGPS GNPAT PEX1 PEX2 PEX5
7 rhizomelic chondrodysplasia punctata 31.1 AGPS GNPAT HADHB PEX5 PEX7 PHYH
8 peroxisomal acyl-coa oxidase deficiency 31.0 AGXT CAT HSD17B4 PEX5
9 rhizomelic chondrodysplasia punctata, type 5 30.9 AGPS GNPAT PEX5 PEX7
10 rhizomelic chondrodysplasia punctata, type 2 30.5 AGPS CAT GNPAT PEX5 PEX7 PHYH
11 peroxisome biogenesis disorder 1b 30.3 CAT GNPAT HSD17B4 PEX1 PEX2 PEX5
12 rhizomelic chondrodysplasia punctata, type 1 30.2 AGPS GNPAT HADHB HSD17B4 PEX2 PEX5
13 adrenoleukodystrophy 29.8 ABCD1 CAT PEX1 PEX5
14 chondrodysplasia punctata syndrome 29.6 GNPAT PEX5 PEX7
15 mulibrey nanism 29.4 PEX1 PEX5 PEX7 TRIM37
16 neonatal adrenoleukodystrophy 29.3 CAT PEX1 PEX2 PEX5 PEX7
17 peroxisomal biogenesis disorders 28.8 ABCD1 CAT HSD17B4 PEX1 PEX2 PEX5
18 peroxisome biogenesis disorder 1a 11.4
19 peroxisome disorders 11.1
20 peroxisomal fatty acyl-coa reductase 1 disorder 11.0
21 peroxisome biogenesis disorder 14b 11.0
22 pipecolic acidemia 11.0
23 mevalonic aciduria 10.9
24 childhood-onset cerebral x-linked adrenoleukodystrophy 10.9
25 peroxisome biogenesis disorder 2a 10.9
26 peroxisome biogenesis disorder 3a 10.9
27 peroxisome biogenesis disorder 4a 10.9
28 peroxisome biogenesis disorder 5a 10.9
29 peroxisome biogenesis disorder 6a 10.9
30 peroxisome biogenesis disorder 7a 10.9
31 peroxisome biogenesis disorder 8a 10.9
32 peroxisome biogenesis disorder 9b 10.9
33 peroxisome biogenesis disorder 10a 10.9
34 peroxisome biogenesis disorder 11a 10.9
35 peroxisome biogenesis disorder 12a 10.9
36 peroxisome biogenesis disorder 13a 10.9
37 alpha-methylacetoacetic aciduria 10.1 HSD17B4 PEX5
38 cerebral degeneration 10.0 ABCD1 PEX5
39 zellweger spectrum disorder 10.0 PEX1 PEX2
40 primary hyperoxaluria 10.0 AGXT PEX5
41 refsum disease, infantile form 10.0
42 x-linked recessive disease 10.0 ABCD1 PEX5
43 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.7
44 alacrima, achalasia, and mental retardation syndrome 9.7
45 skin disease 9.7
46 leukodystrophy 9.7
47 cholestasis 9.7
48 epilepsy 9.7
49 lactic acidosis 9.7
50 lysosomal storage disease 9.7

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



Diseases related to Peroxisomal Disease

Symptoms & Phenotypes for Peroxisomal Disease

MGI Mouse Phenotypes related to Peroxisomal Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.18 ABCD1 AGPS AGXT CAT GNPAT HADHB
2 growth/size/body region MP:0005378 10.06 GNPAT HADHB HSD17B4 PEX1 PEX2 PEX5
3 endocrine/exocrine gland MP:0005379 10.03 ABCD1 AGPS GNPAT HSD17B4 PEX2 PEX5
4 mortality/aging MP:0010768 10 ABCD1 AGPS CAT GNPAT HADHB HSD17B4
5 liver/biliary system MP:0005370 9.92 HADHB HSD17B4 PEX1 PEX2 PEX5 PEX7
6 nervous system MP:0003631 9.81 ABCD1 GNPAT HSD17B4 PEX1 PEX2 PEX5
7 reproductive system MP:0005389 9.56 ABCD1 AGPS GNPAT HSD17B4 PEX5 PEX7
8 vision/eye MP:0005391 9.1 ABCD1 AGPS GNPAT HSD17B4 PEX1 PEX7

Drugs & Therapeutics for Peroxisomal Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases Not yet recruiting NCT03163771

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:

41
Brain, Skin, Liver, Kidney, Retina, Cerebellum, Cortex

Publications for Peroxisomal Disease

Articles related to Peroxisomal Disease:

(show top 50) (show all 201)
# Title Authors Year
1
Plasma lipidomics as a diagnostic tool for peroxisomal disorders. ( 29209936 )
2018
2
Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment. ( 29438773 )
2018
3
Clinical and Neuroimaging Spectrum of Peroxisomal Disorders. ( 30086110 )
2018
4
Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders. ( 30295825 )
2018
5
Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. ( 28566232 )
2017
6
Clinical and Laboratory Diagnosis of Peroxisomal Disorders. ( 28409475 )
2017
7
From peroxisomal disorders to common neurodegenerative diseases - the role of ether phospholipids in the nervous system. ( 28796901 )
2017
8
Safety of long-term restrictive diets for peroxisomal disorders: vitamin and trace element status of patients treated for Adult Refsum Disease. ( 26799636 )
2016
9
Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders. ( 27089543 )
2016
10
Hepatic dysfunction in peroxisomal disorders. ( 26453805 )
2016
11
The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders. ( 26943801 )
2016
12
A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pressure chemical ionization-tandem mass spectrometry. ( 27189059 )
2016
13
Violent death in a rare peroxisomal disease-Zellweger syndrome. ( 26235911 )
2015
14
Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy. ( 25822341 )
2015
15
Reactive nitrogen species mediate oxidative stress and astrogliosis provoked by in vivo administration of phytanic acid in cerebellum of adolescent rats: A potential contributing pathomechanism of cerebellar injury in peroxisomal disorders. ( 26188285 )
2015
16
Peroxisomal Disorders: A Review on Cerebellar Pathologies. ( 26201894 )
2015
17
Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters. ( 26674249 )
2015
18
Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy. ( 23604518 )
2013
19
Peroxisomal disorders. ( 23622381 )
2013
20
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
21
MRI as diagnostic tool in early-onset peroxisomal disorders. ( 22459681 )
2012
22
Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders. ( 22483868 )
2012
23
Evidence of oxidative stress in peroxisomal disorders. ( 23023904 )
2012
24
Phytanic acid and pristanic acid, branched-chain fatty acids associated with Refsum disease and other inherited peroxisomal disorders, mediate intracellular Ca2+ signaling through activation of free fatty acid receptor GPR40. ( 21570468 )
2011
25
Pristanic acid promotes oxidative stress in brain cortex of young rats: a possible pathophysiological mechanism for brain damage in peroxisomal disorders. ( 21241675 )
2011
26
Peroxisomal disorders with infantile seizures. ( 21397417 )
2011
27
Peroxisomes and peroxisomal disorders: the main facts. ( 19740638 )
2010
28
Determination of pipecolic acid following trimethylsilyl and trifluoroacyl derivatisation on plasma filter paper by stable isotope GC-MS for peroxisomal disorders. ( 20195834 )
2010
29
Myelin lesions associated with lysosomal and peroxisomal disorders. ( 20819015 )
2010
30
Organelle interplay in peroxisomal disorders. ( 19560974 )
2009
31
Peroxisomal and mitochondrial status of two murine oligodendrocytic cell lines (158N, 158JP): potential models for the study of peroxisomal disorders associated with dysmyelination processes. ( 19659692 )
2009
32
Serum very-long-chain fatty acids levels determined by gas chromatography in the diagnosis of peroxisomal disorders in Poland. ( 20054782 )
2009
33
Investigational methods for peroxisomal disorders. ( 18633975 )
2008
34
Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders. ( 18441019 )
2008
35
Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. ( 17956237 )
2007
36
High incidence of hyperoxaluria in generalized peroxisomal disorders. ( 16621644 )
2006
37
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. ( 16828324 )
2006
38
Peroxisomal disorders: the single peroxisomal enzyme deficiencies. ( 17055078 )
2006
39
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection. ( 15635073 )
2005
40
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ( 15679822 )
2005
41
Metabolic and molecular basis of peroxisomal disorders: a review. ( 15098234 )
2004
42
Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders. ( 15234336 )
2004
43
Mass spectrometric analysis of ceramide perturbations in brain and fibroblasts of mice and human patients with peroxisomal disorders. ( 15282781 )
2004
44
Peroxisomes, lipid metabolism, and peroxisomal disorders. ( 15464416 )
2004
45
Human peroxisomal disorders. ( 12740827 )
2003
46
Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders. ( 13129591 )
2003
47
Measurement of plasma pristanic, phytanic and very long chain fatty acids by liquid chromatography-electrospray tandem mass spectrometry for the diagnosis of peroxisomal disorders. ( 14630371 )
2003
48
Phenotypic variability (heterogeneity) of peroxisomal disorders. ( 14713208 )
2003
49
Lessons from knockout mice II: Mouse models for peroxisomal disorders with single protein deficiency. ( 14713223 )
2003
50
Plasma pipecolic acid is frequently elevated in non-peroxisomal disease. ( 12705501 )
2002

Variations for Peroxisomal Disease

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 peroxisome GO:0005777 9.73 ABCD1 AGPS AGXT CAT GNPAT HSD17B4
2 peroxisomal matrix GO:0005782 9.7 AGPS AGXT CAT GNPAT HSD17B4 PEX7
3 integral component of peroxisomal membrane GO:0005779 9.32 ABCD1 PEX2
4 peroxisomal membrane GO:0005778 9.28 ABCD1 AGPS CAT GNPAT HSD17B4 PEX1
5 cytosol GO:0005829 10.03 ABCD1 AGPS AGXT CAT GNPAT HADHB

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.81 AGPS CAT HSD17B4 PHYH
2 fatty acid metabolic process GO:0006631 9.67 GNPAT HADHB HSD17B4 PHYH
3 protein import into peroxisome matrix GO:0016558 9.56 PEX1 PEX2 PEX5 PEX7
4 peroxisome organization GO:0007031 9.55 ABCD1 PEX1 PEX2 PEX5 PEX7
5 ether lipid biosynthetic process GO:0008611 9.5 AGPS GNPAT PEX7
6 cellular lipid metabolic process GO:0044255 9.49 GNPAT PEX5
7 response to fatty acid GO:0070542 9.48 CAT GNPAT
8 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.46 ABCD1 HSD17B4
9 alpha-linolenic acid metabolic process GO:0036109 9.43 ABCD1 HSD17B4
10 fatty acid beta-oxidation GO:0006635 9.43 ABCD1 HADHB HSD17B4 PEX2 PEX5 PEX7
11 very long-chain fatty acid metabolic process GO:0000038 9.4 HSD17B4 PEX2
12 protein targeting to peroxisome GO:0006625 9.32 AGPS AGXT CAT GNPAT HSD17B4 PEX1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.67 AGPS CAT HSD17B4 PHYH
2 signaling receptor binding GO:0005102 9.62 AGXT CAT GNPAT HSD17B4
3 enzyme binding GO:0019899 9.56 ABCD1 CAT PEX5 PEX7
4 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.16 HADHB HSD17B4
5 protein homodimerization activity GO:0042803 9.1 ABCD1 AGXT CAT HSD17B4 PEX7 TRIM37
6 long-chain-enoyl-CoA hydratase activity GO:0016508 8.96 HADHB HSD17B4

Sources for Peroxisomal Disease

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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