FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: nephrotic syndrome, type 23
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General Information
Name
nephrotic syndrome, type 23
FlyBase ID
FBhh0001330
Disease Ontology Term
Parent Disease
OMIM
NEPHROTIC SYNDROME, TYPE 23; NPHS23
Overview

This report describes nephrotic syndrome type 23 (NPHS23); NPHS23 exhibits autosomal recessive inheritance. The human gene implicated in this disease is KIRREL1. See the human disease report 'nephrotic syndrome, KIRREL-related' (FBhh0000549) for information on a Drosophila disease model using the fly kirre gene to investigate nephrotic syndrome.

There are 2 paralogous genes in human, KIRREL2 and KIRRE3. In addition to Dmel\kirre, there is a second paralogous gene in Drosophila, rst. The mouse Mmus\Kirrel Mmus\Kirrel2, and Mmus\Kirrel3 genes have been introduced into flies; none of the human genes have been introduced into Drosophila. Based on work using the mouse genes, it is postulated that Dmel\kirre is functionally most similar to Mmus\Kirrel (KIRREL1) (FBrf0218912).

[updated Mar. 2021 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: nephrotic syndrome
Symptoms and phenotype

The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. Approximately 20% of affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure (summary by Fuchshuber et al., 1996, pubmed:8606597). [From MIM:256300, 2016.06.13]

(OMIM, 2013-)
Specific Disease Summary: nephrotic syndrome, type 23
OMIM report

[NEPHROTIC SYNDROME, TYPE 23; NPHS23](https://omim.org/entry/619201)

Human gene(s) implicated

[KIRRE-LIKE NEPHRIN FAMILY ADHESION MOLECULE 1; KIRREL1](https://omim.org/entry/607428)

Symptoms and phenotype

Nephrotic syndrome type 23 (NPHS23) is an autosomal recessive renal disorder characterized by the onset of proteinuria in the first or second decade of life. The outcome is variable: some patients have normal renal function after many years, whereas others may progress to chronic kidney disease. Renal biopsy shows mesangial hypercellularity, consistent with minimal change disease, focal segmental glomerulosclerosis, and effacement of podocyte foot processes (summary by Solanki et al., 2019; pubmed:31472902). [from MIM:619201; 2021.03.27]

(OMIM, 2013-)
Genetics

Nephrotic syndrome type 23 (NPHS23) is caused by homozygous mutation in the KIRREL1 gene

(OMIM, 2013-)

[from MIM:619201; 2021.03.27]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

KIRREL1 (aka NEPH1) is a member of the nephrin-like protein family, which includes KIRREL2 and KIRREL3. The cytoplasmic domains of these proteins interact with the C terminus of podocin; the genes are expressed in kidney podocytes. [Gene Cards, KIRREL1; 2021.03.27]

(FlyBase Curators, 2013-)
External links
Disease synonyms
NPHS23
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    KIRREL1; kirre like nephrin family adhesion molecule 1
    D. melanogaster ortholog (based on DIOPT)
    Dmel\kirre
    (DIOPT, 2013-)
    Dmel\rst
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to many: 3 human genes to 2 Drosophila genes.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        RNAi constructs available
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        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (4)