Focal Segmental Glomerulosclerosis 7; Fsgs7

Description

Focal segmental glomerulosclerosis is a form of kidney injury defined by partial sclerosis of some but not all glomeruli. It is characterized clinically by significant proteinuria with or without features of nephrotic syndrome. Some patients develop end-stage renal disease (summary by Barua et al., 2014).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 7; Fsgs7

  • Proteinuria
  • Stage 5 chronic kidney disease
  • Nephrotic syndrome
  • Renal hypoplasia
  • 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 7; Fsgs7 Is also known as glomerulosclerosis, focal segmental, 7.

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 7; Fsgs7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
PAX2 sequencing.

By University of Minnesota Physicians Outreach Laboratory University of Minnesota (United States).

PAX2
Specificity
100 %
Genes
100 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Anterior segment defects.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

PORCN, B3GLCT, COL4A1, CYP1B1, EYA1, FOXC1, FOXE3, KERA, LAMB2, PAX2, PAX6, PITX2, PITX3
Specificity
8 %
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 %
ExomePLUS Cystic Disease & Dysplasia/Agenesis.

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

BMP4, HNF1B, TSC1, TSC2, UMOD, WT1, INVS, NPHP4, FRAS1, ANKS6, IQCB1, CEP290, EYA1, GATA3, MUC1, NPHP1, NPHP3, PAX2, PKD2, PKHD1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
PAX2 Gene Sequencing.

By GeneDx (United States).

PAX2
Specificity
100 %
Genes
100 %
PAX2. Complete sequencing.

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

PAX2
Specificity
100 %
Genes
100 %

You can get up to 50 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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