nephrotic syndrome type 20

Summary
Definition
A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males.
Super Class
familial nephrotic syndrome
Disease Ontology
DOID:0070357
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23061 TBC1D9B TBC1 domain family member 9B
Displaying all 2 entries
Gene ID Gene Symbol Description Source
71310 Tbc1d9 TBC1 domain family, member 9
76795 Tbc1d9b TBC1 domain family, member 9B
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0002027 Abdominal pain
HP:0100539 Periorbital edema
HP:0000737 Irritability
HP:0003774 Stage 5 chronic kidney disease
HP:0000097 Focal segmental glomerulosclerosis
HP:0002586 Peritonitis
HP:0012579 Minimal change glomerulonephritis
HP:0001945 Fever
HP:0000093 Proteinuria
HP:0002315 Headache
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