MCID: PRX034
MIFTS: 35

Peroxisome Disorders malady

Endocrine diseases category

Summaries for Peroxisome Disorders

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63Wikipedia, 32MalaCards
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Wikipedia:63 Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.... more...

MalaCards: Peroxisome Disorders, also known as peroxisomal disorders, is related to zellweger syndrome and adrenoleukodystrophy. An important gene associated with Peroxisome Disorders is PEX1 (peroxisomal biogenesis factor 1), and among its related pathways are Plasmalogen biosynthesis and Glyoxylate and dicarboxylate metabolism. The compounds lignoceric acid and trimetazidine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

Aliases & Classifications for Peroxisome Disorders

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10DISEASES, 42NIH Rare Diseases, 60UMLS, 44Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine diseases


Aliases & Descriptions:

peroxisome disorders 42
peroxisomal disorders 44 60
thyroid hormone plasma membrane transport defect 60
disorders of peroxisomal beta-oxidation 42
peroxisomal disease 10
peroxisome diseases 42
peroxisomal defects 42


Related Diseases for Peroxisome Disorders

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17GeneCards, 18GeneDecks
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Diseases related to Peroxisome Disorders via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 91)
idRelated DiseaseScoreTop Affiliating Genes
1zellweger syndrome30.6PEX1, PEX12, PIPOX, CAT, HSD17B4, PEX2
2adrenoleukodystrophy30.4HSD17B4, PEX26, PEX10, PEX5, PEX2, PEX1
3rhizomelic chondrodysplasia punctata30.3CAT, GNPAT, HADHB, PHYH, AGPS, PEX7
4refsum disease30.3PEX7, PIPOX, PHYH, GNPAT, CAT
5infantile refsum disease30.2CAT, PEX1
6mulibrey nanism30.1PEX7, PEX5, TRIM37
7d-bifunctional protein deficiency30.1HADHB, EHHADH, HSD17B4
8rhizomelic chondrodysplasia punctata type 129.8PEX7, HADHB, HSD17B4
9thyroid hormone plasma membrane transport defect10.6
10peroxisomal disease10.4
11patent foramen ovale10.4
12glanzmann's thrombasthenia10.4
13takayasu's arteritis10.4
14atrioventricular septal defect10.4
15congenital diaphragmatic hernia10.4
16atrial heart septal defect10.4
17congenital heart defect10.4
18urea cycle disorder10.4
19hereditary folate malabsorption10.4
20zap70-related severe combined immunodeficiency10.4
21acro-pectoro-renal field defect10.4
22ankle defects short stature10.4
23axial mesodermal dysplasia spectrum10.4
24branchial arch defects10.4
25cardioskeletal syndrome kuwaiti type10.4
26sacral defect with anterior meningocele10.4
27caudal regression syndrome10.4
28chylomicron retention disease10.4
29x-linked creatine deficiency10.4
30cystinosis, ocular nonnephropathic10.4
31hmg coa lyase deficiency10.4
32imerslund-grasbeck syndrome10.4
33defective apolipoprotein b-10010.4
34diaphragmatic hernia upper limb defects10.4
35heart defect, tongue hamartoma and polysyndactyly10.4
36hermansky pudlak syndrome 210.4
37heterotaxy10.4
38red cell phospholipid defect with hemolysis10.4
39hyperthermia induced defects10.4
40lateral body wall defect10.4
41laterality defects dominant10.4
42limb reduction defect10.4
43overgrowth radial ray defect arthrogryposis10.4
44paraomphalocele10.4
45reductional transverse limb defects10.4
46renal agenesis meningomyelocele mullerian defect10.4
47trigonomacrocephaly tibial defect polydactyly10.4
48thyroid hormonogenesis defect i10.4
49combined oxidative phosphorylation deficiency 210.4
50combined oxidative phosphorylation deficiency 510.4

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



Diseases related to peroxisome disorders

Clinical Features for Peroxisome Disorders

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Drugs & Therapeutics for Peroxisome Disorders

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Peroxisome Disorders

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Anatomical Context for Peroxisome Disorders

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32MalaCards
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MalaCards organs/tissues related to Peroxisome Disorders:

32
Thyroid

Animal Models for Peroxisome Disorders or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Peroxisome Disorders:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.4PEX7, PEX2, FFAR1, AGPS, GNPAT, HSD17B4
2MP:00053709.4HSD17B4, HADHB, PHYH, FFAR1, EHHADH, PEX7
3MP:00053768.4PHYH, HADHB, GNPAT, CAT, HSD17B4, AGPS

Publications for Peroxisome Disorders

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Genetic Variations for Peroxisome Disorders

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Expression for genes affiliated with Peroxisome Disorders

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Peroxisome Disorders

Search GEO for disease gene expression data for Peroxisome Disorders.

Pathways for genes affiliated with Peroxisome Disorders

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Sources:
53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Peroxisome Disorders

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Peroxisome Disorders according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1lignoceric acid4410.6HADHB, GNPAT
2trimetazidine4410.5HADHB, CAT
33-oxoacyl-coa4410.5GNPAT, EHHADH
4(S)-3-hydroxypalmitoleoyl-CoA2410.5EHHADH, HSD17B4
5(S)-3-Hydroxydodecanoyl-CoA2410.5EHHADH, HSD17B4
6dhap4410.5GNPAT, AGPS
7(S)-Hydroxyhexanoyl-CoA2410.5HSD17B4, EHHADH
8(S)-Hydroxyoctanoyl-CoA2410.4EHHADH, HSD17B4
9(S)-Hydroxydecanoyl-CoA2410.4EHHADH, HSD17B4
10(S)-3-Hydroxytetradecanoyl-CoA2410.4HSD17B4, EHHADH
11phytanic acid4410.4CAT, GNPAT, PHYH
122-methyl-3-hydroxybutyryl-coa44 2411.4HSD17B4, EHHADH
13(S)-3-Hydroxyhexadecanoyl-CoA2410.4EHHADH, HSD17B4
14(S)-Methylmalonic acid semialdehyde2410.4EHHADH, HSD17B4
153-methylcrotonyl-coa44 2411.4EHHADH, HADHB
16pristanic acid44 28 2412.4EHHADH, GNPAT
17(3S)-3-Hydroxyadipyl-CoA2410.3EHHADH, HADHB, HSD17B4
18(2E)-Dodecenoyl-CoA2410.2EHHADH, HADHB, GNPAT
19(2E)-Decenoyl-CoA2410.1EHHADH, HADHB, GNPAT
20clofibrate44 28 1112.1EHHADH, HSD17B4
21(2E)-Tetradecenoyl-CoA2410.1GNPAT, HADHB, EHHADH
22fenton4410.1CAT, PDP1
23(2E)-Octenoyl-CoA2410.1EHHADH, HADHB, GNPAT
24nadh44 11 2412.0HSD17B4, PDP1, CAT, EHHADH
25(2E)-Hexadecenoyl-CoA2410.0EHHADH, GNPAT, HADHB
26lipid449.8HADHB, GNPAT, CAT, PEX1, PEX2, PEX5
27citrate449.7PDP1, CAT, HADHB
28acyl-coa449.6HSD17B4, GNPAT, PDP1, HADHB, AGXT, SLC25A17
29fatty acid449.5PEX7, GNPAT, EHHADH, FFAR1, AGPS, PHYH

GO Terms for genes affiliated with Peroxisome Disorders

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16Gene Ontology
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Cellular components related to Peroxisome Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:0432319.9PEX1, EHHADH, AGPS, HSD17B4
2integral to peroxisomal membraneGO:0057799.6PEX12, PEX2, PEX10, PEX26, SLC25A17
3peroxisomal matrixGO:0057829.3PEX5, GNPAT, HSD17B4, CAT, PHYH, AGPS
4mitochondrionGO:0057399.1EHHADH, AGPS, HSD17B4, PHYH, HADHB, GNPAT
5peroxisomal membraneGO:0057789.0PEX10, PEX5, PEX1, PEX12, SLC25A17, AGPS
6peroxisomeGO:0057778.0PEX12, PHYH, GNPAT, CAT, HSD17B4, PIPOX

Biological processes related to Peroxisome Disorders according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1protein import into peroxisome membraneGO:04504610.2PEX26, PEX5
2bile acid biosynthetic processGO:00669910.2PEX2, HSD17B4
3ether lipid biosynthetic processGO:00861110.2AGPS, GNPAT, PEX7
4very long-chain fatty acid metabolic processGO:00003810.1HSD17B4, PEX2, PEX5
5protein targeting to peroxisomeGO:00662510.1AGXT, PEX12, PEX1, PEX5
6fatty acid alpha-oxidationGO:00156110.0SLC25A17, PHYH
7peroxisome organizationGO:0070319.9PEX10, PEX12, PEX1, PEX2, PEX7
8neuron migrationGO:0017649.7PEX2, PEX7, PEX5
9cellular lipid metabolic processGO:0442559.7SLC25A17, HADHB, PHYH, GNPAT, HSD17B4, AGPS
10protein import into peroxisome matrixGO:0165589.7PEX10, PEX2, PEX12, PEX1, PEX26, PEX7
11fatty acid beta-oxidationGO:0066359.6PEX2, SLC25A17, EHHADH, HADHB, HSD17B4, PEX5
12small molecule metabolic processGO:0442819.1HSD17B4, CAT, GNPAT, PDP1, PHYH, AGPS

Molecular functions related to Peroxisome Disorders according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1long-chain-enoyl-CoA hydratase activityGO:01650810.2HSD17B4, HADHB
23-hydroxyacyl-CoA dehydrogenase activityGO:00385710.1EHHADH, HADHB, HSD17B4
3enoyl-CoA hydratase activityGO:00430010.1EHHADH, HADHB
4protein complex bindingGO:03240310.1PEX26, PEX1, HADHB
5protein C-terminus bindingGO:0080229.8PEX26, PEX10, PEX5, PEX1, PEX12
6enzyme bindingGO:0198999.7PEX5, PEX7, EHHADH, CAT
7receptor bindingGO:0051029.6HSD17B4, CAT, GNPAT, PIPOX, AGXT, EHHADH
8protein homodimerization activityGO:0428039.4HSD17B4, CAT, AGXT, TRIM37, PEX7

Products for genes affiliated with Peroxisome Disorders

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Peroxisome Disorders

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet