Xanthinuria, Type Ii (XAN2)

Alias:
Xanthinuria Type Ii
Xan2
Xanthine Dehydrogenase and Xanthine Aldehyde Oxidase Dual Deficiency
Xdh and Aox Dual Deficiency
Xanthine Dehydrogenase and Aldehyde Oxidase, Combined Deficiency of
Combined Deficiency of Xanthine Dehydrogenase and Aldehyde Oxidase
Xanthic Urolithiasis
Xanthinuria 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Xanthinuria, Type Ii, also known as xanthinuria type ii, is related to xanthinuria, type i and xanthinuria. An important gene associated with Xanthinuria, Type Ii is MOCOS (Molybdenum Cofactor Sulfurase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include kidney, and related phenotypes are renal insufficiency and hypouricemia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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3
13
11

Medical Symptom

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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

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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
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IF
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