Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary FSGS type 6

Hereditary FSGS type 6 is an autosomal recessive disorder caused by mutations of the MYO1E gene.

Symptoms

Proteinuria
Proteinuria in FSGS6 is usually nephrotic.

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
MYO1E
Hereditary FSGS type 7
ITGA9
LAMA5
NXF5

References:

1.

Krendel M et al. (2009) Disruption of Myosin 1e promotes podocyte injury.

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2.

Mele C et al. (2011) MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

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3.

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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Update: Sept. 26, 2018