familial nephrotic syndrome

Summary
Synonym
  • Congenital nephrotic syndrome
Definition
A nephrotic syndrome that has_material_basis_in genetic mutations.
Super Class
monogenic disease nephrotic syndrome
External Links
Disease Ontology
DOID:2590
MeSH
UMLS
NCI Thesaurus
OMIM
Related Genes
Displaying entries 41 - 48 of 48 in total
Gene ID Gene Symbol Description Source
22925 PLA2R1 phospholipase A2 receptor 1
23417 MLYCD malonyl-CoA decarboxylase
26503 SLC17A5 solute carrier family 17 member 5
51196 PLCE1 phospholipase C epsilon 1
56052 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
57678 GPAM glycerol-3-phosphate acyltransferase, mitochondrial
113189 CHST14 carbohydrate sulfotransferase 14
151056 PLB1 phospholipase B1

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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