Xanthinuria

Alias:
Hereditary Xanthinuria
Xanthic Urolithiasis
Xanthine Dehydrogenase Deficiency
Xanthine Oxidase Deficiency
Xanthine Stone Disease
Classic Xanthinuria
Combined Deficiency of Xanthine Dehydrogenase and Aldehyde Oxidase
Classical Xanthinuria
Xanthinuria, Type I
Xanthine Calculus
Xdh Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Xanthinuria, also known as hereditary xanthinuria, is related to xanthinuria, type i and xanthinuria, type ii. An important gene associated with Xanthinuria is XDH (Xanthine Dehydrogenase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include kidney and skeletal muscle, and related phenotypes are decreased urinary urate and hypouricemia
Related ID:
ICD11:1565213608

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/100000
17
322
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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

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PMID
Journal
Year
IF
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