Focal Segmental Glomerulosclerosis 1; Fsgs1

Description

Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; {256300}), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998).D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte.Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic SyndromeFocal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (OMIM ), caused by mutation in the TRPC6 gene (OMIM ); FSGS3 (OMIM ), associated with variation in the CD2AP gene (OMIM ); FSGS4 (OMIM ), mapped to chromosome 22q12; FSGS5 (OMIM ), caused by mutation in the INF2 gene (OMIM ); FSGS6 (OMIM ), caused by mutation in the MYO1E gene (OMIM ); FSGS7 (OMIM ), caused by mutation in the PAX2 gene (OMIM ); FSGS8 (OMIM ), caused by mutation in the ANLN gene (OMIM ); and FSGS9 (OMIM ), caused by mutation in the CRB2 gene (OMIM ).See also NPHS1 (OMIM ), caused by mutation in the NPHS1 gene (OMIM ); NPHS2 (OMIM ), caused by mutation in the podocin gene (OMIM ); NPHS3 (OMIM ), caused by mutation in the PLCE1 gene (OMIM ); and NPHS4 (OMIM ), caused by mutation in the WT1 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Focal Segmental Glomerulosclerosis 1; Fsgs1

  • Hearing impairment
  • Pain
  • Anemia
  • Hypertension
  • Edema
  • Renal insufficiency
  • Proteinuria
  • Confusion
  • Stage 5 chronic kidney disease
  • Nausea

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Focal Segmental Glomerulosclerosis 1; Fsgs1 Is also known as glomerulosclerosis, focal segmental, 1.

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 1; Fsgs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ACTN4 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

ACTN4
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 1.

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

ACTN4
Specificity
100 %
Genes
100 %
FSGS Panel.

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

TRPC6, NPHS2, CD2AP, ACTN4, NPHS1
Specificity
20 %
Genes
100 %
Nephrotic Syndrome Region of Interest-Trio.

By Claritas Genomics (United States).

ACTN4, COQ8B
Specificity
50 %
Genes
100 %
Nephrotic Syndrome Region of Interest- Proband Only.

By Claritas Genomics (United States).

ACTN4, COQ8B
Specificity
50 %
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 %
ACTN4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ACTN4
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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