Details of Disease | DrugMAP

General Information of Disease (ID: DIS0L16N)

Disease Name	Primary hyperoxaluria
Synonyms	primary hyperoxaluria; hyperoxaluria, primary
Definition	A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.
Disease Hierarchy	DISV24X3: Carbohydrate metabolism disorder DIS0L16N: Primary hyperoxaluria
Disease Identifiers	MONDO ID MONDO_0002474 MESH ID D006960 UMLS CUI C0020501 MedGen ID 5697 Orphanet ID 416 SNOMED CT ID 17901006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HAO1	TTS58YO	Strong	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UGDH	DE48Q2Z	Definitive	Biomarker	[2]
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This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRHPR	OTLV63QV	Strong	Genetic Variation	[3]
HAO2	OTDWSQ0L	Strong	Biomarker	[1]
HOGA1	OT7XETW4	Strong	Genetic Variation	[3]
PRODH2	OTHO2TO0	Strong	Biomarker	[4]
CRYL1	OT0SJSJM	Definitive	Biomarker	[2]
GLUD1	OTXKOCUH	Definitive	Biomarker	[2]
H6PD	OTO7TNDD	Definitive	Biomarker	[2]
KYAT3	OTO4U2QK	Definitive	Biomarker	[5]
PTS	OTTYWQXR	Definitive	Biomarker	[6]
RBMXL1	OTMGCWWB	Definitive	Biomarker	[5]
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⏷ Show the Full List of 10 DOT(s)

References

1	Specific Inhibition of Hepatic Lactate Dehydrogenase Reduces Oxalate Production in Mouse Models of Primary Hyperoxaluria.Mol Ther. 2018 Aug 1;26(8):1983-1995. doi: 10.1016/j.ymthe.2018.05.016. Epub 2018 Jun 15.
2	Primary hyperoxaluria type 2: enzymology.J Nephrol. 1998 Mar-Apr;11 Suppl 1:29-31.
3	Targeting kidney inflammation as a new therapy for primary hyperoxaluria?.Nephrol Dial Transplant. 2019 Jun 1;34(6):908-914. doi: 10.1093/ndt/gfy239.
4	The effects of the inactivation of Hydroxyproline dehydrogenase on urinary oxalate and glycolate excretion in mouse models of primary hyperoxaluria.Biochim Biophys Acta Mol Basis Dis. 2020 Mar 1;1866(3):165633. doi: 10.1016/j.bbadis.2019.165633. Epub 2019 Dec 7.
5	Metabolism of Oxalate in Humans: A Potential Role Kynurenine Aminotransferase/Glutamine Transaminase/Cysteine Conjugate Betalyase Plays in Hyperoxaluria.Curr Med Chem. 2019;26(26):4944-4963. doi: 10.2174/0929867326666190325095223.
6	Molecular recognition of PTS-1 cargo proteins by Pex5p: implications for protein mistargeting in primary hyperoxaluria.Biomolecules. 2015 Feb 13;5(1):121-41. doi: 10.3390/biom5010121.