Focal Segmental Glomerulosclerosis 4, Susceptibility To; Fsgs4

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

Phenotypes and symptoms related to Focal Segmental Glomerulosclerosis 4, Susceptibility To; Fsgs4

  • 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 4, Susceptibility To; Fsgs4 Is also known as end-stage renal disease, nondiabetic, susceptibility to, included.

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 4, Susceptibility To; Fsgs4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Apolipoprotein L1 (APOL1), Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

APOL1
Specificity
100 %
Genes
100 %
APOL1 Genotyping Panel A (2 Mutations).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

APOL1
Specificity
100 %
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
Specificity
4 %
Genes
100 %
APOL1 Genotyping.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States).

APOL1
Specificity
100 %
Genes
100 %
Glomerulosclerosis, focal segmental, 4, susceptibility to.

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

APOL1
Specificity
100 %
Genes
100 %
End-stage renal disease, nondiabetic, susceptibility to.

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

APOL1
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center (Germany).

ROBO2, SALL1, BLK, BMP4, BMP7, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC3A1, SLC7A9, SMARCAL1, HNF1A, HNF1B, KLF11, TRPC6, TSC1, TSC2, UMOD , (...)

View the complete list with 95 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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