Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome (HUPRAS)

Alias:
Hupra Syndrome
Alkalosis
Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis
Hupras
Hyperuricemia-Pulmonary Hypertension-Renal Failure-Alkalosis Syndrome
Alkalosis Nos
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome, also known as hupra syndrome, is related to bartter disease and liddle syndrome 1, and has symptoms including polyuria An important gene associated with Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome is SARS2 (Seryl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters. The drugs Acetazolamide and Indomethacin have been mentioned in the context of this disorder. Affiliated tissues include whole blood and kidney, and related phenotypes are failure to thrive and diabetes mellitus
Related ID:
MESH:D000471
ICD11:1015229719

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
4
35
2

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

Title
PMID
Journal
Year
IF
No Data Found!
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