Autosomal Recessive Polycystic Kidney Disease

Description

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

Clinical Features

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

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency
  • Respiratory distress
  • Atrial septal defect
  • Congestive heart failure
  • Splenomegaly
  • Renal insufficiency

And another 40 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Autosomal Recessive Polycystic Kidney Disease have a estimated prevalence of 1.17 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Autosomal Recessive Polycystic Kidney Disease Is also known as polycystic kidney and hepatic disease 1, polycystic kidney disease, infantile, type i, pkhd1, arpkd, ar-pkd, polycystic kidney disease, autosomal recessive, polycystic kidney disease 4 with or without hepatic disease, pkd3, formerly.

Researches and researchers

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

Autosomal Recessive Polycystic Kidney Disease Experts map



Current Researchs and researchers

  • PARIS — Pr Rémi SALOMON

    Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — CHU Paris - Hôpital Necker-Enfants Malades
      — INSERM U983, CHU Paris - Hôpital Necker-Enfants Malades
    • Research area/topic::

      Néphropathies kystiques du foetus et syndromes apparentés


  • HANNOVER — Pr Roland SEIFERT

    Investigator of research project - Director of department

    • Institution/s:
      — Zentrum Pharmakologie und Toxikologie, Medizinische Hochschule Hannover
    • Research area/topic::

      Regulation of membrane-bound adenylyl cyclases in autosomal recessive polycystic kidney disease



Mendelian

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Autosomal Recessive Polycystic Kidney Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
50 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
50 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, FAH, FANCC, FKTN , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
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
Specificity
2 %
Genes
50 %
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
23 %
Genes
100 %
PKHD1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

PKHD1
Specificity
100 %
Genes
50 %
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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