Hyperoxaluria, Primary, Type Ii (HP2)

Alias:
Primary Hyperoxaluria Type 2
D-Glycerate Dehydrogenase Deficiency
Glyoxylate Reductase/hydroxypyruvate Reductase Deficiency
L-Glyceric Aciduria
Oxalosis Ii
Hp2
Primary Hyperoxaluria, Type Ii
Glyceric Aciduria
Hyperoxaluria Primary Type Ii
Primary Hyperoxaluria Type Ii
Hyperoxaluria Primary 2
Ph2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyperoxaluria, Primary, Type Ii, also known as primary hyperoxaluria type 2, is related to d-glyceric aciduria and hyperoxaluria, primary, type iii. An important gene associated with Hyperoxaluria, Primary, Type Ii is GRHPR (Glyoxylate And Hydroxypyruvate Reductase), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and ATP/ITP metabolism. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are nephrolithiasis and nephrocalcinosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
11
43
53

Medical Symptom

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

Gene & Mutation

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Mutations
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Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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