autosomal recessive polycystic kidney disease - Symptoms, Causes & Research | Kisho | Kisho

autosomal recessive polycystic kidney disease

Rare Disease

MONDO:0009889

Also known as:

AR-PKDARPKDautosomal recessive polycystic kidney

An inherited disorder characterized by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

Genes

Clinical Trials

6 active

Newborn Screening

–

Patient Groups

–

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Last reviewed: Feb 2026

Evidence base: Developing

Find Clinical TrialsTrials

Associated Genes

2 genes

DZIP1L PKHD1

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

2 genes

DZIP1L PKHD1

Gene data from HGNC • Click to view on NCBI Gene

Overview

This report reflects available clinical information. Some areas may remain under active research.(6 data sources · Data coverage: Moderate)

Overview

Autosomal recessive polycystic kidney disease is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Symptoms & Signs

The disease is characterized by the development of cysts affecting the collecting ducts and is frequently associated with hepatic involvement. There are no known associated genes, inheritance patterns, or documented symptoms available at this time. Currently, there are no orphan drug designations under investigation.

Prognosis & Outlook

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries, such as Orphanet, may provide additional resources and support. Finding specialists with experience in managing similar conditions can also be beneficial.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

2 genes

DZIP1L PKHD1

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View Recruiting Trials View All Trials

Data from ClinicalTrials.gov Jan 7, 2026

Support

External Resources

Orphanet

European rare disease database

Orphanet:731

GARD

Genetic and Rare Diseases Info Center

GARD:8378

Know a Patient Advocacy Group for this condition?

Help patients and families find support by registering your organization or suggesting a group that serves this community.

Was this helpful?

AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.

Need this data in your product?

Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.

Explore API Start Free

← Back to All Diseases

autosomal recessive polycystic kidney disease

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Clinical Trials

Support

External Resources

Orphanet

GARD

Related Diseases

Know a Patient Advocacy Group for this condition?

Need this data in your product?