nephrotic syndrome type 19

Summary
Definition
A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11.
Super Class
autosomal recessive disease familial nephrotic syndrome
Disease Ontology
DOID:0080394
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23279 NUP160 nucleoporin 160
The Human Phenotype Ontology
Displaying entries 11 - 16 of 16 in total
HPO ID HPO Term
HP:0011947 Respiratory tract infection
HP:0000969 Edema
HP:0012622 Chronic kidney disease
HP:0001967 Diffuse mesangial sclerosis
HP:0000707 Abnormality of the nervous system
HP:0003073 Hypoalbuminemia
Displaying 1 entry
Gene ID Gene Symbol Description
51196 PLCE1 phospholipase C epsilon 1

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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: December 9, 2024