Polycystic Kidney Disease 5; Pkd5

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 ).

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.


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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
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
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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