Focal Segmental Glomerulosclerosis 2; Fsgs2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (review by Meyrier, 2005).For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome (NPHS), see FSGS1 (OMIM ).

Genes related to Focal Segmental Glomerulosclerosis 2; Fsgs2

TRPC6

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Clinical Features

Phenotypes and symptoms related to Focal Segmental Glomerulosclerosis 2; Fsgs2

Proteinuria
Stage 5 chronic kidney disease
Nephrotic syndrome
Chronic kidney disease
Glomerulosclerosis
Focal segmental glomerulosclerosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Focal Segmental Glomerulosclerosis 2; Fsgs2 Is also known as glomerulosclerosis, focal segmental, 2.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Focal Segmental Glomerulosclerosis 2; Fsgs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TRPC6 DNA Sequencing Test. By Athena Diagnostics Inc (United States). TRPC6 Specificity 100 % Genes 100 %
Inherited Focal and Segmental Glomerulosclerosis (FSGS) Evaluation. By Athena Diagnostics Inc (United States). TRPC6, NPHS2, ACTN4, INF2 Specificity 25 % Genes 100 %
Test for Focal Segmental Glomerulosclerosis 2. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). TRPC6 Specificity 100 % Genes 100 %
FSGS Panel. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). TRPC6, NPHS2, CD2AP, ACTN4, NPHS1 Specificity 20 % Genes 100 %
Exome PLUS Proteinuria/FSGS & Hematuria. By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA , (...) View the complete list with 12 more genes Panel complete gene list CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA, CFH, CFHR1, CFI, ITGB4, APOL1, LAMB2, LMX1B, CD46, MYH9, MYO1E, NPHS1, PAX2 Specificity 4 % Genes 100 %
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis (sequence analysis of TRPC6). By CGC Genetics (Portugal). TRPC6 Specificity 100 % Genes 100 %
Focal glomerulonephrosis (NGS panel for 11 genes). By CGC Genetics (Portugal). TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, CRB2, INF2, MYO1E, NPHS1, PAX2 Specificity 10 % Genes 100 %
Focal Segmental Glomerulosclerosis 2. By Centre de Genetique Humaine Institut de Pathologie et de Genetique (Belgium). TRPC6 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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