Focal Segmental Glomerulosclerosis 3, Susceptibility To; Fsgs3

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) (Meyrier, 2005).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 3, Susceptibility To; Fsgs3

  • Failure to thrive
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Proteinuria
  • Stage 5 chronic kidney disease
  • Hematuria
  • Nephrotic syndrome
  • Chronic kidney disease
  • Glomerulosclerosis

And another 2 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 3, Susceptibility To; Fsgs3 Is also known as glomerulosclerosis, focal segmental, 3, susceptibility to.

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.


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Focal Segmental Glomerulosclerosis 3, Susceptibility To; Fsgs3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for Focal Segmental Glomerulosclerosis 3.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CD2AP
Specificity
100 %
Genes
100 %
FSGS Panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

TRPC6, NPHS2, CD2AP, ACTN4, NPHS1
Specificity
20 %
Genes
100 %
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis (sequence analysis of CD2AP gene).

By CGC Genetics (Portugal).

CD2AP
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 3.

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

CD2AP
Specificity
100 %
Genes
100 %
Glomerulosclerosis, focal segmental, 3.

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

CD2AP
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 %
Focal Segmental Glomerulosclerosis (FSGS) via CD2AP Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CD2AP
Specificity
100 %
Genes
100 %

We have 23 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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