Nephrotic Syndrome, Type 6; Nphs6

Description

The nephrotic syndrome refers to a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema, resulting in end-stage kidney disease if untreated. Inherited defects in podocyte structure and function have been observed in some children with the steroid-resistant subtype of nephrotic syndrome (summary by Ozaltin et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Nephrotic Syndrome, Type 6; Nphs6

  • Edema
  • Proteinuria
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Nephrotic syndrome
  • Hypoalbuminemia
  • Glomerulosclerosis
  • Focal segmental glomerulosclerosis
  • Tubular atrophy
  • Tubulointerstitial fibrosis

And another 1 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.

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.

Nephrotic Syndrome, Type 6; Nphs6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Nephrotic syndrome (NGS panel for 11 genes).

By CGC Genetics (Portugal).

WT1, NPHS2, ACTN4, PLCE1, COQ8B, DGKE, EMP2, LAMB2, ARHGDIA, NPHS1, PTPRO
Specificity
10 %
Genes
100 %
Nephrotic syndrome, type 6.

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

PTPRO
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 %
Nephrotic syndrome 6.

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

PTPRO
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 %

You can get up to 11 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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