Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease; Pkd2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.

Genes related to Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease; Pkd2

PKD2

Clinical Features

Top most frequent phenotypes and symptoms related to Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease; Pkd2

Hypertension
Renal insufficiency
Midface retrusion
Respiratory failure
Abnormality of the kidney
Facial asymmetry
Stage 5 chronic kidney disease
Hematuria
Nephropathy
Renal cyst

And another 10 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease; Pkd2 Is also known as polycystic kidney disease, adult, type ii, apkd2.

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.

Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease; Pkd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PKDx® Familial Mutation Evaluation. By Athena Diagnostics Inc (United States). PKD1, PKD2 Specificity 50 % Genes 100 %
Complete PKD Evaluation. By Athena Diagnostics Inc (United States). PKD1, PKD2 Specificity 50 % Genes 100 %
PKD2 Deletion Test. By Athena Diagnostics Inc (United States). PKD2 Specificity 100 % Genes 100 %
PKD2 DNA Sequencing Test. By Athena Diagnostics Inc (United States). PKD2 Specificity 100 % Genes 100 %
PKD2 DNA Sequencing and Deletion Evaluation. By Athena Diagnostics Inc (United States). PKD2 Specificity 100 % Genes 100 %
NGS Connective Tissue Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...) View the complete list with 13 more genes Panel complete gene list SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14, ELN, FBLN5, FBN1, FBN2, ABCC6, SMAD3, MYH11, MYLK, NOTCH1, ATP7A, PKD2, PLOD1, PRDM5 Specificity 4 % 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 Panel complete gene list RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32, NME8, ADGRV1, INVS, WDR19, DNAI2, BBS7, CFTR, NPHP4, RD3, EVC2, RDH12, TTC8, DNAAF2, SPATA7, RSPH9, RSPH4A, TOPORS, DNAL1, CRB1, CRX, B9D1, NKX2-5, TMEM216, CCDC39, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, CCDC40, TCTN1, BBS10, BBS12, TMEM138, WDPCP, XPNPEP3, CCDC28B, TMEM67, IQCB1, CEP290, RPGRIP1L, WDR35, CC2D2A, IFT80, DNAH11, GLIS2, DNAH5, DNAI1, IFT43, BBS9, DNAAF3, KIF7, DNAAF1, LCA5, EVC, GATA4, GDF1, GUCY2D, IMPDH1, KCNJ13, LRAT, MKKS, MKS1, MYO7A, NODAL, NPHP1, NPHP3, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5 Specificity 2 % Genes 100 %
PKD2 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). PKD2 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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