familial juvenile hyperuricemic nephropathy

Summary
Definition
A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
Super Class
kidney disease
External Links
Disease Ontology
DOID:0060062
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7369 UMOD uromodulin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P07911 Uromodulin
The Human Phenotype Ontology
Displaying all 10 entries
HPO ID HPO Term
HP:0000112 Nephropathy
HP:0003621 Juvenile onset
HP:0000083 Renal insufficiency
HP:0012213 Decreased glomerular filtration rate
HP:0001997 Gout
HP:0000006 Autosomal dominant inheritance
HP:0002149 Hyperuricemia
HP:0000092 Renal tubular atrophy
HP:0003676 Progressive
HP:0000123 Nephritis
Displaying 1 entry
Gene ID Gene Symbol Description
7369 UMOD uromodulin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024