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ORPHA:731

Autosomal recessive polycystic kidney disease

high confidenceDisorder

Also known as: AR-PKD

Publications

12,972

96.4th percentile

Trials

3

Interventional, condition-specific

Researchers

1,307

Distinct authors in sample

Gene link

DZIP1L, PKD1, PKHD1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate of the liver resulting in hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys.

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 (4)

ARPKD · autosomal recessive polycystic kidney · polycystic kidney disease, autosomal recessive · polycystic kidney disease, infantile type

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

    Definitive — DZIP1L, PKD1, PKHD1

  2. LiteraturePresent

    12,972 matched papers (7,717 in last 10 years) Source

  3. Phenotype characterisedPresent

    80 HPO annotations (e.g. Renal insufficiency; Esophageal varix; Congenital hepatic fibrosis) Source

  4. Animal modelPresent

    47 genotype models (Mus musculus, Rattus norvegicus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. Tesevatinib Source

  6. Interventional trialPresent

    3 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?

Yes — we know a specific gene responsible (DZIP1L, PKD1, PKHD1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

80

Associated phenotypes · MONDO:0009889

  • Renal insufficiency
  • Esophageal varix
  • Congenital hepatic fibrosis
  • Fat malabsorption
  • Hyponatremia

Showing 5 of 80 — open Monarch for the full list.

Animal models (Monarch / Alliance)

47

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA TesevatinibAutosomal Recessive Polycystic Kidney Disease ARPKD · 2016-03-01 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0009889

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

12,972

12,972 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.

12,972 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).

7,717 in the last 10 years · high confidence · 96.4th percentile (publications denominator)

Phrase hits: 2,901 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,307

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
    Liebau MC14 papers · 2026

    Department of Pediatrics, Center for Family Health, Center for Rare Diseases, and Center for Molecular Medicine, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  2. 02
    Schaefer F10 papers · 2026

    Center for Child and Adolescent Medicine, Department of Pediatric Nephrology, University Hospital Heidelberg, 69120 Heidelberg, Germany.

    Papers in Europe PMC
  3. 03
    Burgmaier K7 papers · 2026

    Department of Pediatrics, Faculty of Medicine, University Hospital Cologne and University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  4. 04
    Guay-Woodford LM7 papers · 2026

    Center for Translational Research, Children's National Hospital, Washington, DC, United States.

    Papers in Europe PMC
  5. 05
    Hartung EA7 papers · 2026

    Division of Nephrology, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA, 19104, USA. hartunge@chop.edu.

    Papers in Europe PMC
  6. 06
    Sayer JA7 papers · 2026

    Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.

    Papers in Europe PMC
  7. 07
    Harris PC6 papers · 2026

    Division of Nephrology and Hypertension, Mayo Clinic, Rochester MN. Electronic address: harris.peter@mayo.edu.

    Papers in Europe PMC
  8. 08
    Al Alawi I5 papers · 2026

    National Genetic Centre, Ministry of Health, Muscat, Oman.

    Papers in Europe PMC
  9. 09
    Mekahli D5 papers · 2025

    Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium.

    Papers in Europe PMC
  10. 10
    Dell KM4 papers · 2026

    Section for Pediatric Nephrology and Hypertension, Cleveland Clinic Children's, Cleveland, Ohio, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 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

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

high confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Autosomal recessive polycystic kidney disease — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 1.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

("Autosomal recessive polycystic kidney disease" OR "AR-PKD" OR "ARPKD" OR "autosomal recessive polycystic kidney" OR "polycystic kidney disease, autosomal recessive" OR "polycystic kidney disease, infantile type") OR ("DZIP1L" OR "DZIP1L syndrome" OR "DZIP1L-related" OR "PKD1" OR "PKD1 syndrome" OR "PKD1-related" OR "PKHD1" OR "PKHD1 syndrome" OR "PKHD1-related")

Run this search on Europe PMC

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

"Autosomal recessive polycystic kidney disease" OR "AR-PKD" OR "ARPKD" OR "autosomal recessive polycystic kidney" OR "polycystic kidney disease, autosomal recessive" OR "polycystic kidney disease, infantile type"

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: 3 interventional · 5 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:05:53.460Z