Nephrotic Syndrome, Type 3; Nphs3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Nephrotic Syndrome, Type 3; Nphs3

PLCE1
PLCE1-AS1

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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

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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 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.

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 Panel complete gene list CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA, CFH, CFHR1, CFI, ITGB4, APOL1, LAMB2, LMX1B, CD46, MYH9, MYO1E, NPHS1, PAX2 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 Panel complete gene list SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, TP53RK, ACTN4, SCARB2, PLCE1, XPO5, OSGEP, NUP205, CRB2, MAGI2, COQ8B, KANK1, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, INF2, TPRKB, COQ2, ARHGAP24, CUBN, TTC21B, WDR73, LAGE3, KANK4, DGKE, NUP93, KANK2, NUP107, EMP2, FAT1, ITGA3, ITGB4, LAMA5, LAMB2, LMX1B, ARHGDIA, MYO1E, NPHS1, PAX2, PTPRO Specificity 3 % Genes 50 %

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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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