Nephronophthisis 2; Nphp2
Clinical Features
Top most frequent phenotypes and symptoms related to Nephronophthisis 2; Nphp2
- Global developmental delay
- Anemia
- Hypertension
- Hepatomegaly
- Respiratory insufficiency
- Renal insufficiency
- Dilatation
- Respiratory failure
- Acidosis
- Abnormality of the kidney
And another 28 symptoms. If you need more information about this disease we can help you.
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 2; Nphp2 Is also known as nph2.
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 2; Nphp2 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
50 % |
Comprehensive Pulmonary Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
50 % |
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, SCNN1A, SCNN1B, SCNN1G, SPAG1, RSPH1, CFAP298, NME8, LRRC6, INVS, CENPF, CCNO, DNAI2, CFTR, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A , (...)
View the complete list with 22 more genes
Specificity
3 %
Genes
50 % |
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
50 % |
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
50 % |
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
50 % |
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
50 % |
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
50 % |
You can get up to 78 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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