Hypouricemia, Renal, 1 (RHUC1)

Alias:
Dalmatian Hypouricemia
Renal Hypouricemia
Familial Renal Hypouricemia
Hypouricemia, Renal
Rhuc1
Hereditary Renal Hypouricemia
Familial Renal Hypouricaemia
Hypouricemia, Renal, Type 1
Hypouricemia Renal 1
Rhuc
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypouricemia, Renal, 1, also known as dalmatian hypouricemia, is related to acute kidney failure and nephrolithiasis. An important gene associated with Hypouricemia, Renal, 1 is SLC22A12 (Solute Carrier Family 22 Member 12), and among its related pathways/superpathways is Allopurinol Pathway, Pharmacokinetics. The drugs Febuxostat and Uric acid have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are acute kidney injury and hyperuricosuria
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
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2
253
28

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

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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