Nephrotic Syndrome, Type 1; Nphs1

Description

The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. Approximately 20% of affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure (summary by Fuchshuber et al., 1996).Nephrotic syndrome type 1 (NPHS1) is characterized by prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome apparent at birth with rapid progression to end-stage renal failure (Kestila et al., 1998).Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. Genetic Heterogeneity of Nephrotic Syndrome and Focal Segmental GlomerulosclerosisNephrotic syndrome and FSGS are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also NPHS2 (OMIM ), caused by mutation in the podocin gene (OMIM ); NPHS3 (OMIM ), caused by mutation in the PLCE1 gene (OMIM ); NPHS4 (OMIM ), caused by mutation in the WT1 gene (OMIM ); NPHS5 (OMIM ), caused by mutation in the LAMB2 gene (OMIM ); NPHS6 (OMIM ), caused by mutation in the PTPRO gene (OMIM ); NPHS7 (OMIM ), caused by mutation in the DGKE gene (OMIM ); NPHS8 (OMIM ), caused by mutation in the ARHGDIA gene (OMIM ); NPHS9 (OMIM ), caused by mutation in the COQ8B gene (OMIM ); NPHS10 (OMIM ), caused by mutation in the EMP2 gene (OMIM ); NPHS11 (OMIM ), caused by mutation in the NUP107 gene (OMIM ); NPHS12 (OMIM ), caused by mutation in the NUP93 gene (OMIM ); NPHS13 (OMIM ), caused by mutation in the NUP205 gene (OMIM ); NPHS14 (OMIM ), caused by mutation in the SGPL1 gene (OMIM ); NPHS15 (OMIM ), caused by mutation in the MAGI2 gene (OMIM ); and NPHS16 (OMIM ), caused by mutation in the KANK2 gene (OMIM ).FSGS1 (OMIM ) is caused by mutation in the ACTN4 gene (OMIM ) and FSGS2 (OMIM ) by mutation in the TRPC6 gene (OMIM ). FSGS3 (OMIM ) is associated with variation in the CD2AP gene (OMIM ). FSGS4 (OMIM ) has been mapped to chromosome 22q12, and FSGS5 (OMIM ) is caused by mutation in the INF2 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Nephrotic Syndrome, Type 1; Nphs1

  • Growth delay
  • Edema
  • Renal insufficiency
  • Recurrent infections
  • Hypothyroidism
  • Gastroesophageal reflux
  • Proteinuria
  • Respiratory tract infection
  • Nephrotic syndrome
  • Small for gestational age
And another 15 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Nephrotic Syndrome, Type 1; Nphs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Early Onset Nephrotic Syndrome Evaluation.

By Athena Diagnostics Inc in United States.

WT1, NPHS2, NPHS1, LAMB2, PLCE1
Specificity
20 %
Genes
100 %
NPHS1 (Nephrin) Sequencing Analysis.

By Athena Diagnostics Inc in United States.

NPHS1
Specificity
100 %
Genes
100 %
Test for Congenital Finnish Nephrosis.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

NPHS1
Specificity
100 %
Genes
100 %
FSGS Panel.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

NPHS2, NPHS1, ACTN4, TRPC6, CD2AP
Specificity
20 %
Genes
100 %
Exome PLUS Proteinuria/FSGS & Hematuria.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

WT1, ALMS1, LMX1B, PAX2, GLA, TSC2, TSC1, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, MYH9, CFB, CFI , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
NPHS1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NPHS1
Specificity
100 %
Genes
100 %
NPHS1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NPHS1
Specificity
100 %
Genes
100 %
NPHS2, NPHS1, ACTN4. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NPHS2, NPHS1, ACTN4
Specificity
34 %
Genes
100 %
Nephrotic syndrome types 1 and 2, congenital (sequence analysis of NPHS1 and NPHS2 genes).

By CGC Genetics in Portugal.

NPHS2, NPHS1
Specificity
50 %
Genes
100 %
Nephrotic syndrome type 1, congenital (Finnish type, sequence analysis of NPHS1 gene).

By CGC Genetics in Portugal.

NPHS1
Specificity
100 %
Genes
100 %
Nephrotic syndrome (NGS panel for 11 genes).

By CGC Genetics in Portugal.

WT1, NPHS2, NPHS1, LAMB2, ACTN4, PLCE1, DGKE, COQ8B, ARHGDIA, EMP2, PTPRO
Specificity
10 %
Genes
100 %
Focal glomerulonephrosis (NGS panel for 11 genes).

By CGC Genetics in Portugal.

WT1, PAX2, NPHS2, NPHS1, INF2, ACTN4, TRPC6, CD2AP, CRB2, MYO1E, ANLN
Specificity
10 %
Genes
100 %
Congenital Finnish Nephrosis.

By Laboratory of Genetics HUSLAB in Finland.

NPHS1
Specificity
100 %
Genes
100 %
Finnish congenital nephrotic syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

NPHS1
Specificity
100 %
Genes
100 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Congenital Nephrotic Syndrome via NPHS1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NPHS1
Specificity
100 %
Genes
100 %
Nephrotic syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Nephrotic syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Nephrotic syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Nephrotic syndrome type 1.

By Institute of Human Genetics Cologne University in Germany.

NPHS1
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
100 %
Nephrotic syndrome type 2.

By Centogene AG - the Rare Disease Company in Germany.

NPHS1
Specificity
100 %
Genes
100 %
Nephrotic syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

WT1, NPHS2, NPHS1, LAMB2, PLCE1, DGKE, ARHGDIA
Specificity
15 %
Genes
100 %
Nephrosis, Finnish type.

By Centogene AG - the Rare Disease Company in Germany.

NPHS1
Specificity
100 %
Genes
100 %
Nephrotic Syndrome Panel.

By CeGaT GmbH in Germany.

WT1, COQ2, NPHS2, NPHS1, LAMB2, PLCE1, DGKE, COQ8B, ITGA3, SMARCAL1, WDR73, ARHGDIA, EMP2, PTPRO
Specificity
8 %
Genes
100 %
Congenital Finnish Nephrosis.

By Praxis fuer Humangenetik Wien in Austria.

NPHS1
Specificity
100 %
Genes
100 %
NPHS1 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

NPHS1
Specificity
100 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Congenital Finnish Nephrosis.

By MedGene in Slovakia.

NPHS1
Specificity
100 %
Genes
100 %
Nephrotic syndrome, Congenital: NPHS1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NPHS1
Specificity
100 %
Genes
100 %
NEPHROTIC SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

WT1, COQ6, MPV17, NPHS2, NPHS1, INF2, LAMB2, PLCE1, TRPC6, CD2AP, ITGA3, STS, MYO1E, ARHGDIA, PTPRO
Specificity
7 %
Genes
100 %
Glomerulosclerosis, focal segmental.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

WT1, PAX2, NPHS2, NPHS1, INF2, ACTN4, PLCE1, TRPC6, CD2AP, MYO1E
Specificity
10 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Nephrotic Syndrome, NPHS1-Related (NPHS1).

By Integrated Genetics Westborough Integrated Genetics in United States.

NPHS1
Specificity
100 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
NPHS1.

By Fulgent Genetics Fulgent Genetics in United States.

NPHS1
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Nephrotic Syndrome Panel.

By Blueprint Genetics in Finland.

WT1, COQ2, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, MYH9, CD2AP, DGKE, APOL1, TTC21B , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis.

By Bioarray in Spain.

NPHS1
Specificity
100 %
Genes
100 %
Congenital nephrotic syndrome, Finnish type.

By Bioarray in Spain.

NPHS1
Specificity
100 %
Genes
100 %
Nephrotic syndrome type 1.

By Bioarray in Spain.

NPHS1
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MYH9, MEFV, CD2AP , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
NEPHROTIC SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

WT1, NPHS2, NPHS1, LAMB2
Specificity
25 %
Genes
100 %
Congenital Nephrotic (Finnish Type) Syndrome, Sequencing NPHS1 Gene.

By Reference Laboratory Genetics in Spain.

NPHS1
Specificity
100 %
Genes
100 %
Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

WT1, COQ6, NPHS2, NPHS1, INF2, LAMB2, PLCE1, TRPC6, CD2AP, ITGA3, MYO1E, ARHGDIA, PTPRO
Specificity
8 %
Genes
100 %
Focal Segmental Glomerulosclerosis , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

WT1, PAX2, NPHS2, NPHS1, INF2, ACTN4, PLCE1, TRPC6, CD2AP, MYO1E
Specificity
10 %
Genes
100 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %

Alternate names

Nephrotic Syndrome, Type 1; Nphs1 Is also known as finnish congenital nephrosis;cnf, nephrotic syndrome, congenital;finnish congenital nephrosis.



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