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

Hereditary FSGS type 7

Hereditary FSGS type 7 is an autosomal dominant disorder caused by mutations of the PAX2 gene. As PAX2 is also responsible for papillorenal syndrome some clinical feature can overlap.

Symptoms

Proteinuria
Proteinuria, which may reach nephrotic range, is an important feature of FSGS caused by mutations of the PAX2 gene.

Systematic

Focal, segmental glomerulosclerosis (FSGS)
ALG13
ARHGAP24
CLU
Hereditary FSGS type 1
Hereditary FSGS type 2
Hereditary FSGS type 3
Hereditary FSGS type 4
Hereditary FSGS type 5
Hereditary FSGS type 6
Hereditary FSGS type 7
PAX2
ITGA9
LAMA5
NXF5

References:

1.

Barua M et al. (2014) Mutations in PAX2 associate with adult-onset FSGS.

external link
2.

OMIM.ORG article

Omim 616002 external link
Update: Aug. 14, 2020
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