NPHS2 gene related symptoms and diseases
All the information presented here about the NPHS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NPHS2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Rare - less than 30% cases |
| Sleep apnea | Rare - less than 30% cases |
| Mild proteinuria | Rare - less than 30% cases |
| Steroid-resistant nephrotic syndrome | Rare - less than 30% cases |
| Obstructive sleep apnea | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with NPHS2 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Focal segmental glomerulosclerosis
- Glomerulosclerosis
- Hypoalbuminemia
- Chronic kidney disease
- Hyperlipidemia
- Edema
- Nephrotic syndrome
- Stage 5 chronic kidney disease
And 7 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NPHS2 gene
Here you will find a list of rare diseases related to the NPHS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEPHROTIC SYNDROME, TYPE 2; NPHS2
Alternate names
NEPHROTIC SYNDROME, TYPE 2; NPHS2 Is also known as nephrotic syndrome, steroid-resistant, autosomal recessive, srn1
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 ).
Most common symptoms of NEPHROTIC SYNDROME, TYPE 2; NPHS2
- Anemia
- Edema
- Renal insufficiency
- Obesity
- Proteinuria
More info about NEPHROTIC SYNDROME, TYPE 2; NPHS2
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 MINIMAL CHANGES
SPORADIC IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS
Alternate names
SPORADIC IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS Is also known as sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
More info about SPORADIC IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS
SOURCES: ORPHANET
SPORADIC IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH MINIMAL CHANGES
Search interest in NPHS2
Potential gene panels for NPHS2 gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
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.
NPHS2 (Podocin) Sequencing Analysis Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the NPHS2 gene.
More info about this panel United States.
Inherited Focal and Segmental Glomerulosclerosis (FSGS) Evaluation Panel
United States.
By Athena Diagnostics Inc Inherited Focal and Segmental Glomerulosclerosis (FSGS) Evaluation that also includes the following genes: TRPC6 NPHS2 ACTN4 INF2
More info about this panel United States.
Test for Steroid-Resistant Nephrotic Syndrome Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the NPHS2 gene.
More info about this panel Netherlands.
FSGS Panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht FSGS Panel that also includes the following genes: TRPC6 NPHS2 CD2AP ACTN4 NPHS1
More info about this panel Netherlands.
NPHS2 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the NPHS2 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.
NPHS2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NPHS2 gene.
More info about this panel Spain.
NPHS2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NPHS2 gene.
More info about this panel Spain.
NPHS2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NPHS2 gene.
More info about this panel Spain.
NPHS2, NPHS1, ACTN4. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica NPHS2, NPHS1, ACTN4. NextGeneDx.Complete sequencing by NGS that also includes the following genes: NPHS2 ACTN4 NPHS1
More info about this panel Spain.
Steroid-Resistant Nephrotic Syndrome, AR (sequence analysis of NPHS2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NPHS2 gene.
More info about this panel Portugal.
Nephrotic syndrome types 1 and 2, congenital (sequence analysis of NPHS1 and NPHS2 genes) Panel
Portugal.
By CGC Genetics Nephrotic syndrome types 1 and 2, congenital (sequence analysis of NPHS1 and NPHS2 genes) that also includes the following genes: NPHS2 NPHS1
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.
Focal glomerulonephrosis (NGS panel for 11 genes) Panel
Portugal.
By CGC Genetics Focal glomerulonephrosis (NGS panel for 11 genes) that also includes the following genes: TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 CRB2 INF2 MYO1E NPHS1
More info about this panel Portugal.
Nephrotic syndrome, idiopathic, steroid-resistant Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the NPHS2 gene.
More info about this panel Germany.
Test for Steroid-Resistant Nephrotic Syndrome Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the NPHS2 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 via NPHS2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the NPHS2 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.
Steroid-Resistant Nephrotic Syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the NPHS2 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
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NPHS2 gene.
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.
NPHS2 Gene Sequencing Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the NPHS2 gene.
More info about this panel Colombia.
NPHS2 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the NPHS2 gene.
More info about this panel Austria.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
Nephrotic syndrome type 2: NPHS2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NPHS2 gene.
More info about this panel Spain.
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.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Nephrotic Syndrome, NPHS2-Related (NPHS2) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the NPHS2 gene.
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
NPHS2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NPHS2 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 2 Panel
Spain.
By Bioarray
This panel specifically test the NPHS2 gene.
More info about this panel Spain.
Familial idiopathic steroid-resistant nephrotic syndrome Panel
Spain.
By Bioarray
This panel specifically test the NPHS2 gene.
More info about this panel Spain.
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis Panel
Spain.
By Bioarray
This panel specifically test the NPHS2 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 Panel
Spain.
By Laboratorio de Genetica Clinica SL NEPHROTIC SYNDROME that also includes the following genes: WT1 NPHS2 LAMB2 NPHS1
More info about this panel Spain.
Congenital Nephrotic Syndrome Type 2 , Sequencing NPHS2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NPHS2 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.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
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