Focal Segmental Glomerulosclerosis 6; Fsgs6

Description

Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by Mele et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Focal Segmental Glomerulosclerosis 6; Fsgs6

  • Edema
  • Renal insufficiency
  • Dilatation
  • Proteinuria
  • Stage 5 chronic kidney disease
  • Hematuria
  • Nephrotic syndrome
  • Chronic kidney disease
  • Hypoalbuminemia
  • Glomerulosclerosis

And another 3 symptoms. If you need more information about this disease we can help you.

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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 6; Fsgs6 Is also known as glomerulosclerosis, focal segmental, 6.

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 6; Fsgs6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
Specificity
4 %
Genes
100 %
Glomerulosclerosis, focal segmental, type 6 (sequence analysis of MYO1E gene).

By CGC Genetics (Portugal).

MYO1E
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 %
Glomerulosclerosis, focal segmental, 6.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

MYO1E
Specificity
100 %
Genes
100 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, TP53RK, ACTN4, SCARB2, PLCE1, XPO5, OSGEP, NUP205, CRB2, MAGI2, COQ8B, KANK1, COQ6, COL4A3 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Nephrotic syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Nephrotic syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Nephrotic syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %

You can get up to 16 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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