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

Hereditary FSGS type 3

Hereditary FSGS type 3 is an autosomal dominant disorder caused by mutations of the CD2AP gene.

Systematic

Focal, segmental glomerulosclerosis (FSGS)
ALG13
ARHGAP24
CLU
Hereditary FSGS type 1
Hereditary FSGS type 2
Hereditary FSGS type 3
CD2AP
Hereditary FSGS type 4
Hereditary FSGS type 5
Hereditary FSGS type 6
Hereditary FSGS type 7
Hereditary FSGS type 8
Hereditary FSGS type 9
ITGA9
LAMA5
NXF5

References:

1.

Mak IY et al. (2002) Regulated expression of signal transducer and activator of transcription, Stat5, and its enhancement of PRL expression in human endometrial stromal cells in vitro.

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2.

Beales PL et al. (2001) Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

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3.

Corbeel L et al. () Haematological findings in type Ib glycogen storage disease before and after portacaval shunt.

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Update: Aug. 14, 2020
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