Nephrotic Syndrome, Type 3; Nphs3

Description

Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) (Hinkes et al., 2006).Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen (Gbadegesin et al., 2008).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 3; Nphs3

  • Edema
  • Renal insufficiency
  • Proteinuria
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Nephrotic syndrome
  • Hypoalbuminemia
  • Glomerulosclerosis
  • Focal segmental glomerulosclerosis
  • Diffuse mesangial sclerosis

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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 3; Nphs3 Is also known as nephrotic syndrome, early-onset, type 3.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Nephrotic Syndrome, Type 3; Nphs3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Early Onset Nephrotic Syndrome Evaluation.

By Athena Diagnostics Inc (United States).

WT1, NPHS2, PLCE1, LAMB2, NPHS1
Specificity
20 %
Genes
50 %
PLCE1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

PLCE1
Specificity
100 %
Genes
50 %
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
50 %
PLCE1. Complete sequencing.

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

PLCE1
Specificity
100 %
Genes
50 %
Nephrotic Syndrome Type 3 (sequence analysis of PLCE1 gene).

By CGC Genetics (Portugal).

PLCE1
Specificity
100 %
Genes
50 %
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
50 %
Nephrotic syndrome, type 3.

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

PLCE1
Specificity
100 %
Genes
50 %
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
50 %

We have 21 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LUSCAN-LUMISH SYNDROME; LLS NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL LEBER CONGENITAL AMAUROSIS 15; LCA15 FAMILIAL COLD URTICARIA SHAHEEN SYNDROME; SHNS PREMATURE AGING SYNDROME, PENTTINEN TYPE; PENTT

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more