Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Hereditary FSGS type 1

Hereditary FSGS type 1 is an autosomal dominant disorder caused by mutations of the ACTN4 gene.

Systematic

Focal, segmental glomerulosclerosis (FSGS)
ALG13
ARHGAP24
CLU
Hereditary FSGS type 1
ACTN4
Hereditary FSGS type 2
Hereditary FSGS type 3
Hereditary FSGS type 4
Hereditary FSGS type 5
Hereditary FSGS type 6
Hereditary FSGS type 7
ITGA9
LAMA5
NXF5

References:

1.

Winn MP et al. (1999) Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis.

external link
2.

Kaplan JM et al. (2000) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.

external link
3.

Winn MP et al. (1999) Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.

external link
4.

Tejani A et al. (1983) Familial focal segmental glomerulosclerosis.

external link
5.

Conlon PJ et al. (1995) Clinical and pathologic features of familial focal segmental glomerulosclerosis.

external link
6.

Faubert PF et al. (1997) Familial focal segmental glomerulosclerosis: nine cases in four families and review of the literature.

external link
7.

Mathis BJ et al. (1998) A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13.

external link
8.

OMIM.ORG article

Omim 603278 external link
Update: Aug. 14, 2020
Copyright © 2005-2021 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues