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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM ORPHANET

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



More info about FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH MINIMAL CHANGES

SOURCES: ORPHANET

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



More info about SPORADIC IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH MINIMAL CHANGES

SOURCES: ORPHANET


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

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

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

NPHS2 (Podocin) Sequencing Analysis Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the NPHS2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Nephrotic syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NPHS2 gene.

More info about this panel

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

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

NPHS2 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the NPHS2 gene.

More info about this panel

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

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

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

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

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

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

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

NPHS2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NPHS2 gene.

More info about this panel

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

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

Nephrotic syndrome type 2 Panel

Spain.

By Bioarray

This panel specifically test the NPHS2 gene.

More info about this panel

Familial idiopathic steroid-resistant nephrotic syndrome Panel

Spain.

By Bioarray

This panel specifically test the NPHS2 gene.

More info about this panel

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

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

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

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

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

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STOM DBH KIF1A CAMTA1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more