Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease; Pkd3

Description

Polycystic kidney disease-3, a form of autosomal dominant PKD (ADPKD), is characterized by renal cysts, often associated with liver cysts, that may lead to organ dysfunction. Affected individuals usually present in mid to late adulthood with progressive cysts in the kidney and/or liver. The renal disease is relatively mild, and only some patients develop hypertension; renal insufficiency usually does not occur. The liver disease shows a wide spectrum of severity: some patients have no cysts, whereas others have severe liver involvement (summary by Porath et al., 2016).For a discussion of genetic heterogeneity of PKD, see PKD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease; Pkd3

  • Hypertension
  • Renal insufficiency
  • Dilatation
  • Abnormality of the kidney
  • Abnormality of the liver
  • Renal cyst
  • Decreased liver function
  • Polycystic kidney dysplasia
  • Dilatation of the cerebral artery
  • Hepatic cysts

And another 1 symptoms. If you need more information about this disease we can help you.

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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 3 With Or Without Polycystic Liver Disease; Pkd3 Is also known as apkd3, polycystic kidney disease, adult, type iii.

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 3 With Or Without Polycystic Liver Disease; Pkd3 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 %
Polycystic kidney disease AD (sequence analysis of GANAB gene).

By CGC Genetics (Portugal).

GANAB
Specificity
100 %
Genes
100 %
Polycystic kidney disease AD (sequence analysis of GANAB gene).

By CGC Genetics (Portugal).

GANAB
Specificity
100 %
Genes
100 %
Autosomal Dominant Polycystic Kidney Disease (ADPKD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

HNF1B, DNAJB11, GANAB, PKD1, PKD2
Specificity
20 %
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 %
Polycystic Liver Disease (PLD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SEC63, GANAB, LRP5, PKD1, PKD2, PRKCSH
Specificity
17 %
Genes
100 %
Autosomal Dominant Polycystic Kidney Disease via GANAB Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GANAB
Specificity
100 %
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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