Details of Disease

General Information of Disease (ID: DISV185U)

Disease Name	Peroxisomal disorder
Synonyms	peroxisomal function disorder; peroxisomal disorder; peroxisomal disease; disorder of peroxisomal function
Disease Class	5C57: Peroxisomal disease
Definition	A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.
Disease Hierarchy	DISOEVKS: Metabolic epilepsy DISD715V: Hereditary neurological disease DISO5FAY: Inborn error of metabolism DISV185U: Peroxisomal disorder
ICD Code	ICD-11 ICD-11: 5C57
Disease Identifiers	MONDO ID MONDO_0019053 MESH ID D018901 UMLS CUI C0282528 MedGen ID 129185 Orphanet ID 68373 SNOMED CT ID 238059005

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Cholic Acid	DM7OKQV	Approved	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSD17B4	TTL1WGS	moderate	Genetic Variation	[2]
HSD17B13	TTDJYZR	Strong	Biomarker	[3]
TRIM37	TTAMCSL	Definitive	Biomarker	[4]
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This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACOX1	OTM0A0DY	Limited	Biomarker	[5]
PEX1	OTQJF0V7	moderate	Biomarker	[6]
PEX3	OTGZ7ME2	moderate	Biomarker	[7]
ACBD5	OT7L16DY	Strong	Biomarker	[8]
DHRS11	OTU3J0ZL	Strong	Biomarker	[3]
HADH	OTJDOL20	Strong	Genetic Variation	[9]
PAF1	OTDDGUBQ	Strong	Biomarker	[10]
PEX10	OTOCZCFA	Strong	Genetic Variation	[11]
PEX12	OT9F6LPN	Strong	Genetic Variation	[12]
PEX2	OTKOEYRM	Strong	Biomarker	[10]
PEX6	OTFAK5EF	Strong	Biomarker	[13]
PIPOX	OTWTCOTN	Definitive	Biomarker	[14]
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⏷ Show the Full List of 12 DOT(s)

References

1	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 609).
2	Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance.J Cell Sci. 2006 Feb 15;119(Pt 4):636-45. doi: 10.1242/jcs.02776. Epub 2006 Jan 31.
3	Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group.Cell Biochem Biophys. 2000;32 Spring:247-51. doi: 10.1385/cbb:32:1-3:247.
4	Novel mutations in the TRIM37 gene in Mulibrey Nanism.Hum Mutat. 2004 May;23(5):522. doi: 10.1002/humu.9233.
5	ACOX1 destabilizes p73 to suppress intrinsic apoptosis pathway and regulates sensitivity to doxorubicin in lymphoma cells.BMB Rep. 2019 Sep;52(9):566-571. doi: 10.5483/BMBRep.2019.52.9.094.
6	Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.Proc Natl Acad Sci U S A. 1998 Apr 14;95(8):4350-5. doi: 10.1073/pnas.95.8.4350.
7	Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S345-8. doi: 10.1007/s10545-009-9010-0. Epub 2009 Dec 23.
8	Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal -Oxidation of Very-long-chain Fatty Acids.J Biol Chem. 2017 Jan 13;292(2):691-705. doi: 10.1074/jbc.M116.760090. Epub 2016 Nov 29.
9	D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder. Am J Hum Genet. 1997 Nov;61(5):1153-62. doi: 10.1086/301599.
10	The Pichia pastoris PER6 gene product is a peroxisomal integral membrane protein essential for peroxisome biogenesis and has sequence similarity to the Zellweger syndrome protein PAF-1.Mol Cell Biol. 1996 May;16(5):2527-36. doi: 10.1128/MCB.16.5.2527.
11	Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders.Clin Neurol Neurosurg. 2019 Feb;177:92-96. doi: 10.1016/j.clineuro.2019.01.004. Epub 2019 Jan 7.
12	Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.Hum Mutat. 2004 Aug;24(2):130-9. doi: 10.1002/humu.20062.
13	Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant.Nat Genet. 1995 Dec;11(4):395-401. doi: 10.1038/ng1295-395.
14	L-Pipecolic acid oxidase, a human enzyme essential for the degradation of L-pipecolic acid, is most similar to the monomeric sarcosine oxidases.Biochem J. 2000 Feb 1;345 Pt 3(Pt 3):487-94.