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ORPHA:2924

Isolated polycystic liver disease

medium confidenceDisorder

Also known as: ADPCLD · Autosomal dominant polycystic liver disease · PCLD

Publications

6,276

93.4th percentile

Trials

11

Interventional, condition-specific

Researchers

1,092

Distinct authors in sample

Gene link

SEC16B, SEC61B

Moderate

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as polycystic liver disease (ADPCLD).

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

AD polycystic liver disease · ADPLD · isolated congenital polycystic liver disease · isolated polycystic liver disease · polycystic liver disease

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Moderate — SEC16B, SEC61B

  2. LiteraturePresent

    6,276 matched papers (3,755 in last 10 years) Source

  3. Phenotype characterisedPresent

    37 HPO annotations (e.g. Renal cyst; Hepatic cysts; Hepatomegaly) Source

  4. Animal modelPresent

    7 genotype models (Rattus norvegicus, Mus musculus, Danio rerio) Source

  5. Orphan designationPresent

    1 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. menadione sodium bisulfite Source

  6. Interventional trialPresent

    11 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Probably — there is moderate evidence for SEC16B, SEC61B.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

37

Associated phenotypes · MONDO:0000447

  • Renal cyst
  • Hepatic cysts
  • Hepatomegaly
  • Elevated circulating alkaline phosphatase concentration

Showing 4 of 37 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

3

Designations · 1 with FDA orphan-indication approval

  • FDA menadione sodium bisulfitePolycystic liver disease · 2014-05-14 · Not FDA Approved for Orphan Indication
  • EMA sodium ascorbate;menadione sodium bisulfiteTreatment of autosomal dominant polycystic liver disease · 22/08/2014 · PositiveEMA designation
  • EMA octreotide hydrochlorideTreatment of autosomal dominant polycystic liver disease · 10/11/2024 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

9

Drugs / clinical candidates · MONDO_0000447

CTD chemicals (MyDisease.info)

1 associated chemical · 13 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • carfilzomib · therapeutic

Pathways: Protein export; Protein processing in endoplasmic reticulum; Innate Immune System; Immune System; XBP1(S) activates chaperone genes; IRE1alpha activates chaperones; Unfolded Protein Response (UPR); Metabolism of proteins

MyDisease.info · MONDO:0000447

Literature

Is anyone studying this?

6,276

6,276 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,276 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

3,755 in the last 10 years · medium confidence · 93.4th percentile (publications denominator)

Phrase hits: 2,357 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,092

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Drenth JPH31 papers · 2026

    Department of Gastroenterology & Hepatology, Radboud University Nijmegen Medical Center, The Netherlands.

    Papers in Europe PMC
  2. 02
    Harris PC12 papers · 2026

    Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, United States.

    Papers in Europe PMC
  3. 03
    Nevens F12 papers · 2026

    Department of Gastroenterology and Hepatology, Gasthuis Leuven, Leuven, Belgium.

    Papers in Europe PMC
  4. 04
    Hogan MC10 papers · 2026

    Department of Internal Medicine, Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  5. 05
    Torres VE10 papers · 2025

    Department of Internal Medicine, Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  6. 06
    Banales JM9 papers · 2026

    Department of Liver and Gastrointestinal Diseases, Biodonostia Health Research Institute - Donostia University Hospital -, University of the Basque Country (UPV/EHU), San Sebastian, Spain; National Institute for the Study of Liver and Gastrointestinal Diseases (CIBERehd, "Instituto de Salud Carlos III"), Spain; IKERBASQUE, Basque Foundation for Science, Bilbao, Spain. Electronic address: jesus.banales@biodonostia.org.

    Papers in Europe PMC
  7. 07
    LaRusso NF9 papers · 2025

    Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  8. 08
    Bernts LHP8 papers · 2025

    Department of Gastroenterology and Hepatology, Radboud University, Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  9. 09
    Gevers TJG8 papers · 2026

    Department of Gastroenterology and Hepatology, Radboud University, Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  10. 10
    Boerrigter MM6 papers · 2024

    Department of Gastroenterology and Hepatology, Radboud University, Nijmegen Medical Center, 6525 GA Nijmegen, Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

11

interventional trials for this specific condition

11 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

11 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.8th percentile).

medium confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

11 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

6 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (2)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Isolated polycystic liver disease — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Isolated polycystic liver disease" OR "ADPCLD" OR "Autosomal dominant polycystic liver disease" OR "AD polycystic liver disease" OR "ADPLD" OR "isolated congenital polycystic liver disease" OR "polycystic liver disease") OR ("SEC16B" OR "SEC16B syndrome" OR "SEC16B-related" OR "SEC61B" OR "SEC61B syndrome" OR "SEC61B-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Isolated polycystic liver disease" OR "ADPCLD" OR "Autosomal dominant polycystic liver disease" OR "AD polycystic liver disease" OR "ADPLD" OR "isolated congenital polycystic liver disease" OR "polycystic liver disease"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 11 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PCLD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T21:41:34.017Z