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 21 - 30 of 48 in total
Gene ID Gene Symbol Description Source
3990 LIPC lipase C, hepatic type
4048 LTA4H leukotriene A4 hydrolase
4069 LYZ lysozyme
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5373 PMM2 phosphomannomutase 2
5743 PTGS2 prostaglandin-endoperoxide synthase 2

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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