Autosomal Dominant Polycystic Kidney Disease

Description

PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney DiseaseAlso see polycystic kidney disease-2 (PKD2 ), caused by mutation in the PKD2 gene (OMIM ) on chromosome 4q22; PKD3 (OMIM ), caused by mutation in the GANAB gene (OMIM ) on chromosome 11q13; PKD4 (OMIM ), caused by mutation in the PKHD1 gene (OMIM ) on chromosome 6p12; PKD5 (OMIM ), caused by mutation in the DZIP1L gene (OMIM ) on chromosome 3q22; and PKD6 (OMIM ), caused by mutation in the DNAJB11 gene (OMIM ) on chromosome 3q27.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Polycystic Kidney Disease

  • Scoliosis
  • Pain
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency
  • Syndactyly
  • Headache
  • Dilatation
  • Polydactyly
  • Pes planus

And another 34 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Autosomal Dominant Polycystic Kidney Disease Is also known as apkd1, adpkd, polycystic kidney disease, adult, polycystic kidney disease, adult, type i, potter type iii polycystic kidney disease, formerly.

Researches and researchers

Doctors, researchs, and experts related to Autosomal Dominant Polycystic Kidney Disease extracted from public data.

Autosomal Dominant Polycystic Kidney Disease Experts map



Current Researchs and researchers

  • FREIBURG — Pr Wolfgang KÜHN

    Clinical expert - Investigator of research project

    • Institution/s:
      — Universitätsklinikum Freiburg
      — Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
    • Research area/topic::

      The role of CCL2 in nephronophthisis and autosomal dominant polycystic kidney disease (ADPKD)



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Autosomal Dominant Polycystic Kidney Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Susceptibility to cystic renal dysplasia (sequence analyis of BICC1 gene).

By CGC Genetics (Portugal).

BICC1
Specificity
100 %
Genes
25 %
Polycystic kidney disease and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

HNF1B, TSC1, TSC2, UMOD, ALG9, ZNF423, INVS, SEC61A1, BICC1, OFD1, ANKS6, GLIS3, TMEM231, GANAB, LRP5, MUC1, NOTCH2, NPHP3, ATP6V0A4, PKD1 , (...)

View the complete list with 2 more genes
Specificity
19 %
Genes
100 %
Polycystic kidney disease and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

HNF1B, TSC1, TSC2, UMOD, ALG9, ZNF423, INVS, SEC61A1, BICC1, OFD1, ANKS6, GLIS3, TMEM231, GANAB, LRP5, MUC1, NOTCH2, NPHP3, ATP6V0A4, PKD1 , (...)

View the complete list with 2 more genes
Specificity
19 %
Genes
100 %
Polycystic kidney disease and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

HNF1B, TSC1, TSC2, UMOD, ALG9, ZNF423, INVS, SEC61A1, BICC1, OFD1, ANKS6, GLIS3, TMEM231, GANAB, LRP5, MUC1, NOTCH2, NPHP3, ATP6V0A4, PKD1 , (...)

View the complete list with 2 more genes
Specificity
19 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center (Germany).

ROBO2, SALL1, BLK, BMP4, BMP7, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC3A1, SLC7A9, SMARCAL1, HNF1A, HNF1B, KLF11, TRPC6, TSC1, TSC2, UMOD , (...)

View the complete list with 95 more genes
Specificity
3 %
Genes
75 %
Renal cystic dysplasia.

By Centogene AG - the Rare Disease Company (Germany).

BICC1
Specificity
100 %
Genes
25 %
Polycystic kidney panel.

By Centogene AG - the Rare Disease Company (Germany).

BICC1, NOTCH2, PKD1, PKD2, PKHD1
Specificity
60 %
Genes
75 %

We have 118 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET 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 WARBURG MICRO SYNDROME 3; WARBM3 VAN MALDERGEM SYNDROME 2; VMLDS2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more