An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for autosomal dominant polycystic liver disease is limited primarily due to its rarity, affecting fewer than 10,000 people in the U.S. This low prevalence restricts the scope and scale of clinical studies. Additionally, the genetic basis of the condition has only recently been identified, leading to ongoing efforts in clinical characterization.
To navigate your care for autosomal dominant polycystic liver disease, consider seeking a hepatologist with expertise in liver diseases, particularly genetic liver disorders. Genetic counseling may also be beneficial, especially given the involvement of specific genes. While there are currently no identified patient organizations, you can find support and resources through organizations like GARD (rarediseases.info.nih.gov) and NORD (rarediseases.org). Participating in clinical trials could also provide access to new therapies and contribute to the understanding of this disease.
There are several orphan drugs designated for the treatment of ADPLD, including (S)-2-methoxy-3-(4-(2-(5-methyl-2-phenyloxazol-4-yl)ethoxy-1,1-d2)benzo[b]thiophen-7-yl)propanoic acid, anti-PAPPA mAb, and lixivaptan, among others. Currently, there are 3 active clinical trials investigating potential treatments and management strategies for this condition. For more information on these trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=autosomal%20dominant%20polycystic%20liver%20disease.
Actionable guidance for navigating care for autosomal dominant polycystic liver disease
To navigate your care for autosomal dominant polycystic liver disease, consider seeking a hepatologist with expertise in liver diseases, particularly genetic liver disorders. Genetic counseling may also be beneficial, especially given the involvement of specific genes. While there are currently no identified patient organizations, you can find support and resources through organizations like GARD (rarediseases.info.nih.gov) and NORD (rarediseases.org). Participating in clinical trials could also provide access to new therapies and contribute to the understanding of this disease.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for autosomal dominant polycystic liver disease is limited primarily due to its rarity, affecting fewer than 10,000 people in the U.S. This low prevalence restricts the scope and scale of clinical studies. Additionally, the genetic basis of the condition has only recently been identified, leading to ongoing efforts in clinical characterization.
To navigate your care for autosomal dominant polycystic liver disease, consider seeking a hepatologist with expertise in liver diseases, particularly genetic liver disorders. Genetic counseling may also be beneficial, especially given the involvement of specific genes. While there are currently no identified patient organizations, you can find support and resources through organizations like GARD (rarediseases.info.nih.gov) and NORD (rarediseases.org). Participating in clinical trials could also provide access to new therapies and contribute to the understanding of this disease.
There are several orphan drugs designated for the treatment of ADPLD, including (S)-2-methoxy-3-(4-(2-(5-methyl-2-phenyloxazol-4-yl)ethoxy-1,1-d2)benzo[b]thiophen-7-yl)propanoic acid, anti-PAPPA mAb, and lixivaptan, among others. Currently, there are 3 active clinical trials investigating potential treatments and management strategies for this condition. For more information on these trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=autosomal%20dominant%20polycystic%20liver%20disease.
Actionable guidance for navigating care for autosomal dominant polycystic liver disease
To navigate your care for autosomal dominant polycystic liver disease, consider seeking a hepatologist with expertise in liver diseases, particularly genetic liver disorders. Genetic counseling may also be beneficial, especially given the involvement of specific genes. While there are currently no identified patient organizations, you can find support and resources through organizations like GARD (rarediseases.info.nih.gov) and NORD (rarediseases.org). Participating in clinical trials could also provide access to new therapies and contribute to the understanding of this disease.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for autosomal dominant polycystic liver disease is limited primarily due to its rarity, affecting fewer than 10,000 people in the U.S. This low prevalence restricts the scope and scale of clinical studies. Additionally, the genetic basis of the condition has only recently been identified, leading to ongoing efforts in clinical characterization.
To navigate your care for autosomal dominant polycystic liver disease, consider seeking a hepatologist with expertise in liver diseases, particularly genetic liver disorders. Genetic counseling may also be beneficial, especially given the involvement of specific genes. While there are currently no identified patient organizations, you can find support and resources through organizations like GARD (rarediseases.info.nih.gov) and NORD (rarediseases.org). Participating in clinical trials could also provide access to new therapies and contribute to the understanding of this disease.
There are several orphan drugs designated for the treatment of ADPLD, including (S)-2-methoxy-3-(4-(2-(5-methyl-2-phenyloxazol-4-yl)ethoxy-1,1-d2)benzo[b]thiophen-7-yl)propanoic acid, anti-PAPPA mAb, and lixivaptan, among others. Currently, there are 3 active clinical trials investigating potential treatments and management strategies for this condition. For more information on these trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=autosomal%20dominant%20polycystic%20liver%20disease.
Actionable guidance for navigating care for autosomal dominant polycystic liver disease
To navigate your care for autosomal dominant polycystic liver disease, consider seeking a hepatologist with expertise in liver diseases, particularly genetic liver disorders. Genetic counseling may also be beneficial, especially given the involvement of specific genes. While there are currently no identified patient organizations, you can find support and resources through organizations like GARD (rarediseases.info.nih.gov) and NORD (rarediseases.org). Participating in clinical trials could also provide access to new therapies and contribute to the understanding of this disease.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 2 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.