Nephronophthisis 4; Nphp4

Clinical Features

Phenotypes and symptoms related to Nephronophthisis 4; Nphp4

  • Growth delay
  • Anemia
  • Renal insufficiency
  • Stage 5 chronic kidney disease
  • Polydipsia
  • Polyuria
  • Nephronophthisis
  • Tubular atrophy
  • Tubulointerstitial fibrosis
  • Renal corticomedullary cysts

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Nephronophthisis 4; Nphp4 Is also known as nephronophthisis 4, juvenile.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Nephronophthisis 4; Nphp4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Ciliopathies.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Liver Diseases Deletion/duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, ABCG5, ABCG8, NPC2, INVS, CFTR, NPHP4, PEX26, TMEM216, CTRC, TRMU, DGUOK, DHCR7, CC2D2A , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Liver Diseases Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Nephronophthisis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, IFT172, NPHP1, NPHP3
Specificity
5 %
Genes
100 %
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Nephronophthisis Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, IFT172, NPHP1, NPHP3
Specificity
5 %
Genes
100 %
ExomePLUS Cystic Disease & Dysplasia/Agenesis.

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

BMP4, HNF1B, TSC1, TSC2, UMOD, WT1, INVS, NPHP4, FRAS1, ANKS6, IQCB1, CEP290, EYA1, GATA3, MUC1, NPHP1, NPHP3, PAX2, PKD2, PKHD1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

You can get up to 69 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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