Nephrotic Syndrome, Type 9; Nphs9

Description

Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by Ashraf et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Nephrotic Syndrome, Type 9; Nphs9

  • Edema
  • Proteinuria
  • Stage 5 chronic kidney disease
  • Nephrotic syndrome
  • Hypoalbuminemia
  • Glomerulosclerosis
  • Focal segmental glomerulosclerosis
  • Steroid-resistant nephrotic syndrome

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 9; Nphs9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 (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 %
Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

APTX, COQ8A, PDSS1, COQ8B, COQ4, COQ6, PDSS2, COQ2, COQ9, ETFA, ETFB, ETFDH
Specificity
9 %
Genes
100 %
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ8B/ADCK4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

COQ8B
Specificity
100 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)

View the complete list with 154 more genes
Specificity
1 %
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 %

You can get up to 14 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 Symptoms Checker

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