ORPHA:480506
Primary intrahepatic lithiasis
Also known as: PIHL · Primary hepatolithiasis
Publications
96
44.5th percentile
Trials
0
Interventional, condition-specific
Researchers
471
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. The condition is rare in the Western world but frequent in eastern Asia. Patients usually present before the age of forty with right upper quadrant pain, jaundice, and/or fever. Stones are typically calcium bilirubinate (pigment) stones, and bacteria are present in the bile in almost all cases. Complications are biliary strictures, liver abscess, liver fibrosis, and secondary biliary cirrhosis. Association with cholangiocarcinoma has also been reported.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018806
- UMLS:C5576557
Additional Mondo synonyms (1)
primary hepatolithiasis
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
96 matched papers (31 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
96
96 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
96 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
31 in the last 10 years · medium confidence · 44.5th percentile (publications denominator)
Phrase hits: 96 · MeSH hits: 0
Who's working on it?
471
Distinct author names in 96 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Wang J5 papers · 2023
Department of Oncology, Changzheng Hospital, Shanghai 200070, P.R. China.
Papers in Europe PMC - 02De Rose AM4 papers · 2025
Hepatobiliary Unit, Department of Surgical Sciences, A. Gemelli Medical School, Largo Gemelli, 800168, Rome, Italy.
Papers in Europe PMC - 03Giuliante F4 papers · 2025
Hepatobiliary Unit, Department of Surgical Sciences, A. Gemelli Medical School, Largo Gemelli, 800168, Rome, Italy.
Papers in Europe PMC - 04Herman P4 papers · 2010
Department of Gastroenterology, University of São Paulo Medical School, R Eneas De Carvale Aguar, 255 São Paulo, Brazil. pherman@uol.com.br
Papers in Europe PMC - 05Kim MH4 papers · 2003
Department of Internal Medicine, Asan Medical Center, Seoul, Korea.
Papers in Europe PMC - 06Machado MA4 papers · 2010
Department of Gastroenterology, University of Sao Paulo Medical School, Brazil.
Papers in Europe PMC - 07Ardito F3 papers · 2025
Hepatobiliary Unit, Department of Surgical Sciences, A. Gemelli Medical School, Largo Gemelli, 800168, Rome, Italy.
Papers in Europe PMC - 08Clemente G3 papers · 2016
Unità di Chirurgia Epatobiliare, Cattedra di Chirurgia Generale, Università Cattolica del Sacro Cuore, Roma.
Papers in Europe PMC - 09Lau WY3 papers · 2018
Department of Liver Surgery, The First People's Hospital of Foshan, Guang Dong, The People's Republic of China.
Papers in Europe PMC - 10Lee SK3 papers · 2003Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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.
"Primary intrahepatic lithiasis" OR "Primary hepatolithiasis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary intrahepatic lithiasis" OR "Primary hepatolithiasis"
Study-type breakdown: 0 interventional · 0 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: PIHL
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 2026-07-27T17:12:51.897Z