nephrotic syndrome type 7

Summary
Synonym
  • Ig-mediated MPGN
  • Ig-mediated membranoproliferative glomerulonephritis
  • Immunoglobulin-mediated MPGN
  • immunoglobulin-mediated membranoproliferative glomerulonephritis
  • nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis
Definition
A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22.
Super Class
autosomal recessive disease familial nephrotic syndrome
External Links
Disease Ontology
DOID:0080388
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8526 DGKE diacylglycerol kinase epsilon
The Human Phenotype Ontology
Displaying entries 11 - 15 of 15 in total
HPO ID HPO Term
HP:0001873 Thrombocytopenia
HP:0011463 Childhood onset
HP:0001919 Acute kidney injury
HP:0000100 Nephrotic syndrome
HP:0003676 Progressive
Displaying 1 entry
Gene ID Gene Symbol Description
8526 DGKE diacylglycerol kinase epsilon

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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