MCID: PRX034
MIFTS: 28

Peroxisome Disorders

Categories: Rare diseases

Aliases & Classifications for Peroxisome Disorders

MalaCards integrated aliases for Peroxisome Disorders:

Name: Peroxisome Disorders 53
Disorder of Peroxisomal Function 53
Peroxisomal Disorders 73
Peroxisomal Disease 53
Peroxisomal Defects 53
Peroxisome Diseases 53

Classifications:



External Ids:

UMLS 73 C0282528

Summaries for Peroxisome Disorders

MalaCards based summary : Peroxisome Disorders, also known as disorder of peroxisomal function, is related to peroxisomal disease and peroxisome biogenesis disorder 1a. An important gene associated with Peroxisome Disorders is PEX11B (Peroxisomal Biogenesis Factor 11 Beta). Affiliated tissues include skin, liver and brain.

Related Diseases for Peroxisome Disorders

Diseases related to Peroxisome Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 peroxisomal disease 12.0
2 peroxisome biogenesis disorder 1a 11.4
3 adrenoleukodystrophy 11.2
4 refsum disease, classic 11.2
5 rhizomelic chondrodysplasia punctata 11.2
6 rhizomelic chondrodysplasia punctata, type 3 11.2
7 peroxisomal fatty acyl-coa reductase 1 disorder 11.0
8 d-bifunctional protein deficiency 11.0
9 peroxisomal acyl-coa oxidase deficiency 11.0
10 alpha-methylacyl-coa racemase deficiency 11.0
11 peroxisome biogenesis disorder 14b 11.0
12 pipecolic acidemia 11.0
13 mevalonic aciduria 10.9
14 childhood-onset cerebral x-linked adrenoleukodystrophy 10.9
15 peroxisome biogenesis disorder 2a 10.9
16 rhizomelic chondrodysplasia punctata, type 1 10.9
17 rhizomelic chondrodysplasia punctata, type 2 10.9
18 acatalasemia 10.9
19 peroxisome biogenesis disorder 3a 10.9
20 peroxisome biogenesis disorder 4a 10.9
21 peroxisome biogenesis disorder 5a 10.9
22 peroxisome biogenesis disorder 6a 10.9
23 peroxisome biogenesis disorder 7a 10.9
24 peroxisome biogenesis disorder 8a 10.9
25 peroxisome biogenesis disorder 9b 10.9
26 peroxisome biogenesis disorder 10a 10.9
27 peroxisome biogenesis disorder 11a 10.9
28 peroxisome biogenesis disorder 12a 10.9
29 peroxisome biogenesis disorder 13a 10.9
30 rhizomelic chondrodysplasia punctata, type 5 10.9
31 zellweger syndrome 10.3
32 chondrodysplasia punctata syndrome 10.1
33 peroxisome biogenesis disorder 1b 10.0
34 refsum disease, infantile form 10.0
35 mulibrey nanism 9.9
36 neonatal adrenoleukodystrophy 9.9
37 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.7
38 alacrima, achalasia, and mental retardation syndrome 9.7
39 skin disease 9.7
40 leukodystrophy 9.7
41 cholestasis 9.7
42 epilepsy 9.7
43 lactic acidosis 9.7
44 adrenomyeloneuropathy 9.7
45 peroxisomal biogenesis disorders 9.7
46 lysosomal storage disease 9.7
47 myopathy 9.7

Graphical network of the top 20 diseases related to Peroxisome Disorders:



Diseases related to Peroxisome Disorders

Symptoms & Phenotypes for Peroxisome Disorders

Drugs & Therapeutics for Peroxisome Disorders

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905

Search NIH Clinical Center for Peroxisome Disorders

Genetic Tests for Peroxisome Disorders

Anatomical Context for Peroxisome Disorders

MalaCards organs/tissues related to Peroxisome Disorders:

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

Publications for Peroxisome Disorders

Articles related to Peroxisome Disorders:

(show top 50) (show all 184)
# 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
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
14
Peroxisomal Disorders: A Review on Cerebellar Pathologies. ( 26201894 )
2015
15
Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters. ( 26674249 )
2015
16
Peroxisomal disorders. ( 23622381 )
2013
17
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
18
MRI as diagnostic tool in early-onset peroxisomal disorders. ( 22459681 )
2012
19
Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders. ( 22483868 )
2012
20
Evidence of oxidative stress in peroxisomal disorders. ( 23023904 )
2012
21
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
22
Pristanic acid promotes oxidative stress in brain cortex of young rats: a possible pathophysiological mechanism for brain damage in peroxisomal disorders. ( 21241675 )
2011
23
Peroxisomal disorders with infantile seizures. ( 21397417 )
2011
24
Peroxisomes and peroxisomal disorders: the main facts. ( 19740638 )
2010
25
Determination of pipecolic acid following trimethylsilyl and trifluoroacyl derivatisation on plasma filter paper by stable isotope GC-MS for peroxisomal disorders. ( 20195834 )
2010
26
Myelin lesions associated with lysosomal and peroxisomal disorders. ( 20819015 )
2010
27
Organelle interplay in peroxisomal disorders. ( 19560974 )
2009
28
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
29
Serum very-long-chain fatty acids levels determined by gas chromatography in the diagnosis of peroxisomal disorders in Poland. ( 20054782 )
2009
30
Investigational methods for peroxisomal disorders. ( 18633975 )
2008
31
Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders. ( 18441019 )
2008
32
Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. ( 17956237 )
2007
33
High incidence of hyperoxaluria in generalized peroxisomal disorders. ( 16621644 )
2006
34
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
35
Peroxisomal disorders: the single peroxisomal enzyme deficiencies. ( 17055078 )
2006
36
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
37
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ( 15679822 )
2005
38
Metabolic and molecular basis of peroxisomal disorders: a review. ( 15098234 )
2004
39
Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders. ( 15234336 )
2004
40
Mass spectrometric analysis of ceramide perturbations in brain and fibroblasts of mice and human patients with peroxisomal disorders. ( 15282781 )
2004
41
Peroxisomes, lipid metabolism, and peroxisomal disorders. ( 15464416 )
2004
42
Human peroxisomal disorders. ( 12740827 )
2003
43
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
44
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
45
Phenotypic variability (heterogeneity) of peroxisomal disorders. ( 14713208 )
2003
46
Lessons from knockout mice II: Mouse models for peroxisomal disorders with single protein deficiency. ( 14713223 )
2003
47
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. ( 11893780 )
2002
48
Peroxisomal disorders. ( 12069541 )
2002
49
RNA interference of peroxisome-related genes in C. elegans: a new model for human peroxisomal disorders. ( 12181365 )
2002
50
Peroxisomal disorders. ( 11723389 )
2001

Variations for Peroxisome Disorders

Expression for Peroxisome Disorders

Search GEO for disease gene expression data for Peroxisome Disorders.

Pathways for Peroxisome Disorders

GO Terms for Peroxisome Disorders

Sources for Peroxisome 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
Content
Loading form....