Nephrotic Syndrome, Type 2; Nphs2

Description

Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Nephrotic Syndrome, Type 2; Nphs2

  • Anemia
  • Edema
  • Renal insufficiency
  • Obesity
  • Proteinuria
  • Abnormality of the kidney
  • Apnea
  • Scarring
  • Stage 5 chronic kidney disease
  • Nephrotic syndrome

And another 10 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.

Alternative names

Nephrotic Syndrome, Type 2; Nphs2 Is also known as nephrotic syndrome, steroid-resistant, autosomal recessive, srn1.

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 2; Nphs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Early Onset Nephrotic Syndrome Evaluation.

By Athena Diagnostics Inc (United States).

WT1, NPHS2, PLCE1, LAMB2, NPHS1
Specificity
20 %
Genes
100 %
NPHS2 (Podocin) Sequencing Analysis.

By Athena Diagnostics Inc (United States).

NPHS2
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 Steroid-Resistant Nephrotic Syndrome.

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

NPHS2
Specificity
100 %
Genes
100 %
FSGS Panel.

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

TRPC6, NPHS2, CD2AP, ACTN4, NPHS1
Specificity
20 %
Genes
100 %
NPHS2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

NPHS2
Specificity
100 %
Genes
100 %

You can get up to 44 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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