NPHS1 gene related symptoms and diseases

All the information presented here about the NPHS1 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 NPHS1 gene

Symptoms // Phenotype % Cases
Growth delay Rare - less than 30% cases
Hypoalbuminemia Rare - less than 30% cases
Podocyte foot process effacement Rare - less than 30% cases
Elevated amniotic fluid alpha-fetoprotein Rare - less than 30% cases
Mesangial hypercellularity Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with NPHS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Congenital nephrotic syndrome
  • Steroid-resistant nephrotic syndrome
  • Delayed eruption of permanent teeth
  • Diffuse mesangial sclerosis
  • Abnormality of the renal tubule
  • Hypoproteinemia
  • Tubular atrophy
  • Focal segmental glomerulosclerosis

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NPHS1 gene

Here you will find a list of rare diseases related to the NPHS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE

Alternate names

CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE Is also known as cnf, finnish congenital nephrosis, nephrotic syndrome, congenital

Description

Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.

Most common symptoms of CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE

  • Growth delay
  • Failure to thrive
  • Edema
  • Renal insufficiency
  • Recurrent infections


More info about CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE

SOURCES: ORPHANET 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 PROLIFERATION

FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH MINIMAL CHANGES

FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH DIFFUSE MESANGIAL SCLEROSIS


Potential gene panels for NPHS1 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.

NPHS1 (Nephrin) Sequencing Analysis Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the NPHS1 gene.

More info about this panel
United States.

Test for Congenital Finnish Nephrosis Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the NPHS1 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.

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.

NPHS1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NPHS1 gene.

More info about this panel
Spain.

NPHS1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NPHS1 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.

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 type 1, congenital (Finnish type, sequence analysis of NPHS1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NPHS1 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.

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.

Congenital Finnish Nephrosis Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master

This panel specifically test the NPHS1 gene.

More info about this panel
Poland.

Finnish congenital nephrotic syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the NPHS1 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.

Congenital Nephrotic Syndrome via NPHS1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NPHS1 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 1 Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the NPHS1 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 type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NPHS1 gene.

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.

Nephrosis, Finnish type Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NPHS1 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.

Congenital Finnish Nephrosis Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the NPHS1 gene.

More info about this panel
Austria.

NPHS1 Gene Sequencing Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the NPHS1 gene.

More info about this panel
Colombia.

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.

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel
Spain.

Congenital Finnish Nephrosis Panel

Slovakia.

By MedGene

This panel specifically test the NPHS1 gene.

More info about this panel
Slovakia.

Nephrotic syndrome, Congenital: NPHS1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NPHS1 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, NPHS1-Related (NPHS1) Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the NPHS1 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.

NPHS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NPHS1 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.

Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis Panel

Spain.

By Bioarray

This panel specifically test the NPHS1 gene.

More info about this panel
Spain.

Congenital nephrotic syndrome, Finnish type Panel

Spain.

By Bioarray

This panel specifically test the NPHS1 gene.

More info about this panel
Spain.

Nephrotic syndrome type 1 Panel

Spain.

By Bioarray

This panel specifically test the NPHS1 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 (Finnish Type) Syndrome, Sequencing NPHS1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NPHS1 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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