PLCE1 gene related symptoms and diseases
All the information presented here about the PLCE1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PLCE1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Edema | Rare - less than 30% cases |
| Renal insufficiency | Rare - less than 30% cases |
| Proteinuria | Rare - less than 30% cases |
| Abnormality of the kidney | Rare - less than 30% cases |
| Stage 5 chronic kidney disease | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with PLCE1 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Nephrotic syndrome
- Hypoalbuminemia
- Glomerulosclerosis
- Focal segmental glomerulosclerosis
- Diffuse mesangial sclerosis
- Steroid-resistant nephrotic syndrome
- Mesangial hypercellularity
Rare diseases associated to PLCE1 gene
Here you will find a list of rare diseases related to the PLCE1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEPHROTIC SYNDROME, TYPE 3; NPHS3
Alternate names
NEPHROTIC SYNDROME, TYPE 3; NPHS3 Is also known as nephrotic syndrome, early-onset, type 3
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 ).
Most common symptoms of NEPHROTIC SYNDROME, TYPE 3; NPHS3
- Edema
- Renal insufficiency
- Proteinuria
- Abnormality of the kidney
- Stage 5 chronic kidney disease
More info about NEPHROTIC SYNDROME, TYPE 3; NPHS3
SOURCES: OMIM
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS
Alternate names
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS Is also known as familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
More info about FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS
SOURCES: ORPHANET
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH DIFFUSE MESANGIAL SCLEROSIS
SPORADIC IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH DIFFUSE MESANGIAL SCLEROSIS
Search interest in PLCE1
Potential gene panels for PLCE1 gene
Early Onset Nephrotic Syndrome Evaluation Panel
United States.
By Athena Diagnostics Inc Early Onset Nephrotic Syndrome Evaluation that also includes the following genes: WT1 NPHS2 PLCE1 LAMB2 NPHS1
More info about this panel United States.
PLCE1 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the PLCE1 gene.
More info about this panel United States.
Exome PLUS Proteinuria/FSGS & Hematuria Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Exome PLUS Proteinuria/FSGS & Hematuria that also includes the following genes: CFB TRPC6 TSC1 TSC2 C1QA C1QC WT1 C3 NPHS2 ADAMTS13
More info about this panel United States.
PLCE1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PLCE1 gene.
More info about this panel Spain.
Nephrotic Syndrome Type 3 (sequence analysis of PLCE1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PLCE1 gene.
More info about this panel Portugal.
Nephrotic syndrome (NGS panel for 11 genes) Panel
Portugal.
By CGC Genetics Nephrotic syndrome (NGS panel for 11 genes) that also includes the following genes: WT1 NPHS2 ACTN4 PLCE1 COQ8B DGKE EMP2 LAMB2 ARHGDIA NPHS1
More info about this panel Portugal.
Nephrotic syndrome, type 3 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the PLCE1 gene.
More info about this panel Germany.
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP TP53RK ACTN4 SCARB2
More info about this panel United States.
Steroid-Resistant Nephrotic Syndrome (SRNS) via PLCE1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PLCE1 gene.
More info about this panel United States.
Nephrotic syndrome and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Comprehensive panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panel United States.
Nephrotic syndrome and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders NGS panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panel United States.
Nephrotic syndrome and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panel United States.
Nephrotic syndrome type 3 Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the PLCE1 gene.
More info about this panel Germany.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Nephrology Endocrinology and Electrolytes - panels Panel
Germany.
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panel Germany.
Nephrotic syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Nephrotic syndrome panel that also includes the following genes: WT1 NPHS2 PLCE1 DGKE LAMB2 ARHGDIA NPHS1
More info about this panel Germany.
Nephrotic Syndrome Panel Panel
Germany.
By CeGaT GmbH Nephrotic Syndrome Panel that also includes the following genes: SMARCAL1 WT1 NPHS2 PLCE1 COQ8B COQ2 WDR73 DGKE EMP2 ITGA3
More info about this panel Germany.
NEPHROTIC SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NEPHROTIC SYNDROME that also includes the following genes: STS TRPC6 WT1 NPHS2 CD2AP PLCE1 COQ6 INF2 ITGA3 LAMB2
More info about this panel Spain.
Glomerulosclerosis, focal segmental Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glomerulosclerosis, focal segmental that also includes the following genes: TRPC6 WT1 NPHS2 CD2AP ACTN4 PLCE1 INF2 MYO1E NPHS1 PAX2
More info about this panel Spain.
PLCE1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PLCE1 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Nephrotic Syndrome Panel Panel
Finland.
By Blueprint Genetics Nephrotic Syndrome Panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panel Finland.
Nephrotic syndrome, type 3 Panel
Spain.
By Bioarray
This panel specifically test the PLCE1 gene.
More info about this panel Spain.
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set that also includes the following genes: SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1 CRB2
More info about this panel United States.
SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL that also includes the following genes: SGPL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 PLCE1 NUP205 CRB2
More info about this panel Spain.
NEPHROTIC SYNDROME WITH DIFFUSE MESANGIAL SCLEROSIS Panel
Spain.
By Laboratorio de Genetica Clinica SL NEPHROTIC SYNDROME WITH DIFFUSE MESANGIAL SCLEROSIS that also includes the following genes: WT1 PLCE1 PTPRO
More info about this panel Spain.
Congenital Nephrotic Syndrome Type 3 , Sequencing PLCE1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PLCE1 gene.
More info about this panel Spain.
Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: TRPC6 WT1 NPHS2 CD2AP PLCE1 COQ6 INF2 ITGA3 LAMB2 ARHGDIA
More info about this panel Spain.
Focal Segmental Glomerulosclerosis , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
By Reference Laboratory Genetics Focal Segmental Glomerulosclerosis , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: TRPC6 WT1 NPHS2 CD2AP ACTN4 PLCE1 INF2 MYO1E NPHS1 PAX2
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ADCY1 BCL6 TANGO2 RLIM WDR1 GNPTAB KRT71