Polycystic Kidney Disease 5; Pkd5

Table of contents:

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

Description

PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by Lu et al., 2017).For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (OMIM ).

Genes related to Polycystic Kidney Disease 5; Pkd5

DZIP1L

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Polycystic Kidney Disease 5; Pkd5

Hypertension
Abnormality of the kidney
Stage 5 chronic kidney disease
Hepatic fibrosis
Polycystic kidney dysplasia
Hyperechogenic kidneys

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.

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 5; Pkd5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cystic Diseases of the Liver/Kidney 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). DNAJB11, SEC63, ALG8, DZIP1L, GANAB, LRP5, PKD2, PKHD1, PRKCSH Specificity 12 % Genes 100 %
Polycystic kidney and liver disease modifier panel. By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom). HNF1B, TSC1, TSC2, UMOD, DNAJB11, SEC61B, SEC61A1, SEC63, ALG8, DZIP1L, GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, REN Specificity 6 % Genes 100 %
Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). HNF1B, DNAJB11, DZIP1L, GANAB, PKD1, PKD2, PKHD1 Specificity 15 % Genes 100 %
Autosomal Recessive Polycystic Kidney Disease (ARPKD) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). DZIP1L, PKHD1 Specificity 50 % Genes 100 %
Autosomal Recessive Polycystic Kidney Disease (ARPKD) via DZIP1L Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). DZIP1L Specificity 100 % Genes 100 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SDCCAG8, HNF1B, TSC1, TSC2, UMOD, VHL, NEK8, DNAJB11, ZNF423, DICER1, INVS, CEP83, DCDC2, SEC61A1, WDR19, CRB2, NPHP4, COL4A1, TTC21B, OFD1 , (...) View the complete list with 21 more genes Panel complete gene list SDCCAG8, HNF1B, TSC1, TSC2, UMOD, VHL, NEK8, DNAJB11, ZNF423, DICER1, INVS, CEP83, DCDC2, SEC61A1, WDR19, CRB2, NPHP4, COL4A1, TTC21B, OFD1, DZIP1L, ANKS6, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, MAPKBP1, IFT172, GANAB, JAG1, LRP5, MUC1, NOTCH2, NPHP1, NPHP3, PAX2, PKD1, PKD2, PKHD1 Specificity 3 % Genes 100 %
DZIP1L. By Fulgent Genetics Fulgent Genetics (United States). DZIP1L Specificity 100 % Genes 100 %
Cystic Kidney Disease Panel. By Blueprint Genetics (Finland). SDCCAG8, SIX5, HNF1B, TSC1, TSC2, UMOD, VHL, NEK8, ZNF423, INVS, CEP83, DCDC2, SEC61A1, WDR19, CRB2, NPHP4, COL4A1, TTC21B, OFD1, DZIP1L , (...) View the complete list with 20 more genes Panel complete gene list SDCCAG8, SIX5, HNF1B, TSC1, TSC2, UMOD, VHL, NEK8, ZNF423, INVS, CEP83, DCDC2, SEC61A1, WDR19, CRB2, NPHP4, COL4A1, TTC21B, OFD1, DZIP1L, ANKS6, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, MAPKBP1, IFT172, EYA1, GANAB, JAG1, LRP5, NOTCH2, NPHP1, NPHP3, PAX2, PKD1, PKD2, PKHD1 Specificity 3 % Genes 100 %

You can get up to 3 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TOOTH AGENESIS, SELECTIVE, 1; STHAG1 PORPHYRIA, ACUTE HEPATIC