FB2026_02 , released June 18, 2026
Human Disease Model Report: hyperoxaluria, primary
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General Information
Name
hyperoxaluria, primary
FlyBase ID
FBhh0000970
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as primary hyperoxaluria (HP or PH). Primary hyperoxaluria is a genetically heterogeneous disorder, with multiple genes and mapped loci. A comprehensive list of HP subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below, or by consulting the table below, with links to more detailed reports for subtypes that have been investigated using fly models.

[updated Dec. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: hyperoxaluria, primary
OMIM report
Symptoms and phenotype

Primary hyperoxaluria is characterized by an accumulation of nonsoluble calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. [from MIM:259900; 2019.02.14]

(OMIM, 2013-)
Genetics
Cellular phenotype and pathology

Overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues. [from MIM:259900; 2019.02.14]

(OMIM, 2013-)
Molecular information
External links
    Disease synonyms
    Search term: nephrolithiasis
    Ortholog Information
    Human gene(s) in FlyBase
      Other mammalian ortholog(s) used
        D. melanogaster Gene Information (0)
        Other Genes Used: Viral, Bacterial, Synthetic (0)
          Summary of Physical Interactions (0 groups)
          Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
          Alleles Representing Disease-Implicated Variants
          Genetic Tools, Stocks and Reagents
          Sources of Stocks
          Contact lab of origin for a reagent not available from a public stock center.
          Bloomington Stock Center Disease Page
          Related mammalian, viral, bacterial, or synthetic transgenes
          Allele
          Transgene
          Publicly Available Stocks
          Selected Drosophila transgenes
          Allele
          Transgene
          Publicly Available Stocks
          RNAi constructs available
          Allele
          Transgene
          Publicly Available Stocks
          Selected Drosophila classical alleles
          Allele
          Allele class
          Mutagen
          Publicly Available Stocks
          References (4)