Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary FSGS type 2

Hereditary FSGS type 2 is an autosomal dominant disorder caused by mutations of the TRPC6 gene. To the moment it is not clear yet whether exclusively gain-of-function mutations can cause that disorder or loss-of-funtion mutations also.

Systematic

Focal, segmental glomerulosclerosis (FSGS)
ALG13
ARHGAP24
CLU
Hereditary FSGS type 1
Hereditary FSGS type 2
TRPC6
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.

Büscher AK et al. (2012) Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

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2.

Riehle M et al. (2016) TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.

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3.

OMIM.ORG article

Omim 603965 [^]
Update: May 9, 2019