Details of Disease

General Information of Disease (ID: DISS210K)

Disease Name	Primary hyperoxaluria type 1
Synonyms	hepatic AGT deficiency; hyperoxaluria, primary, type I; serine pyruvate aminotransferase deficiency; peroxisomal alanine glyoxylate aminotransferase deficiency; peroxisomal alanine:glyoxylate aminotransferase deficiency; serine:pyruvate aminotransferase deficiency; alanine-glyoxylate aminotransferase deficiency; Oxalosis 1; hyperoxaluria, primary, type 1; HP1; AGXT primary hyperoxaluria; PH1; glycolic aciduria; peroxisomal alanine-glyoxylate aminotransferase deficiency; primary hyperoxaluria caused by mutation in AGXT; primary hyperoxaluria type I; primary hyperoxaluria type 1
Disease Class	5C51: Inborn carbohydrate metabolism error
Definition	A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.
Disease Hierarchy	DISRQ6HW: Alanine glyoxylate aminotransferase deficiency DIS0L16N: Primary hyperoxaluria DISS210K: Primary hyperoxaluria type 1
ICD Code	ICD-11 ICD-11: 5C51.20
Disease Identifiers	MONDO ID MONDO_0009823 MESH ID C536414 UMLS CUI C0268164 OMIM ID 259900 MedGen ID 75658 Orphanet ID 93598 SNOMED CT ID 65520001

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
Nedosiran	DMCHWX1	Approved	Small interfering RNA	[1]
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This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
BBP-711	DMVT96Q	Phase 1	Small molecule	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AGXT	TTF5NVW	Limited	Altered Expression	[3]
DAO	TT7Y3EJ	Strong	Biomarker	[4]
HAO1	TTS58YO	Strong	Biomarker	[5]
SLC36A1	TTUYIZW	Strong	Biomarker	[6]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APPBP2	OTLNFV4J	Strong	Biomarker	[6]
C4orf3	OT6TFN1O	Strong	Biomarker	[7]
GRHPR	OTLV63QV	Strong	Biomarker	[8]
HAO2	OTDWSQ0L	Strong	Biomarker	[5]
SOSTDC1	OTAKDNSM	Strong	Altered Expression	[9]
SP100	OTN8SD5W	Strong	Biomarker	[10]
AGXT	OTIPTH3Q	Definitive	Autosomal recessive	[11]
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⏷ Show the Full List of 7 DOT(s)

References

1	FDA Approved Drug Products from FDA Official Website. 2023. Application Number: 215842
2	ClinicalTrials.gov (NCT04876924) A Phase 1, Randomized, Double-Blinded, Placebo-controlled, Single and Multiple-Ascending Dose Study of the Safety, Tolerability, Food Effect, Pharmacokinetics, and Pharmacodynamics of BBP-711 (ORF-229) in Healthy Adult Subjects. U.S.National Institutes of Health.
3	Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.Front Pharmacol. 2019 Feb 6;10:85. doi: 10.3389/fphar.2019.00085. eCollection 2019.
4	Enzymological characterization of a feline analogue of primary hyperoxaluria type 2: a model for the human disease.J Inherit Metab Dis. 1989;12(4):403-14. doi: 10.1007/BF01802035.
5	CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I.Nat Commun. 2018 Dec 21;9(1):5454. doi: 10.1038/s41467-018-07827-1.
6	Induction of enteric oxalate secretion by Oxalobacter formigenes in mice does not require the presence of either apical oxalate transport proteins Slc26A3 or Slc26A6.Urolithiasis. 2020 Feb;48(1):1-8. doi: 10.1007/s00240-019-01144-y. Epub 2019 Jun 14.
7	An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria.J Am Soc Nephrol. 2017 Feb;28(2):494-503. doi: 10.1681/ASN.2016030338. Epub 2016 Jul 18.
8	An update on primary hyperoxaluria.Nat Rev Nephrol. 2012 Jun 12;8(8):467-75. doi: 10.1038/nrneph.2012.113.
9	Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.J Cell Biol. 1990 Dec;111(6 Pt 1):2341-51. doi: 10.1083/jcb.111.6.2341.
10	Subcellular distribution of HP1 proteins is altered in ICF syndrome.Eur J Hum Genet. 2005 Jan;13(1):41-51. doi: 10.1038/sj.ejhg.5201293.
11	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.