Primary Hyperoxaluria

Alias:
Hyperoxaluria, Primary
Hyperoxaluria
Oxalosis
Primary Oxalosis
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency
D-Glycerate Dehydrogenase Deficiency
Primary Hyperoxaluria, Type I
Primary Hyperoxaluria Type 2
Hepatic Agt Deficiency
Hyperoxaluria Primary
Congenital Oxaluria
Glycolic Aciduria
Glyceric Aciduria
Oxaluria, Primary
Primary Oxaluria
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Primary Hyperoxaluria, also known as hyperoxaluria, primary, is related to hyperoxaluria, primary, type ii and hyperoxaluria, primary, type iii, and has symptoms including bone pain An important gene associated with Primary Hyperoxaluria is AGXT (Alanine--Glyoxylate Aminotransferase), and among its related pathways/superpathways are RNA Polymerase I Promoter Opening and Meiosis. The drugs Dapagliflozin and Hydrochlorothiazide have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are calcium oxalate nephrolithiasis and hyperoxaluria
Related ID:
MESH:D006959

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/1000000
75
627
65

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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