ORPHA:261629
Alagille syndrome due to a NOTCH2 point mutation
Also known as: Alagille-Watson syndrome due to a NOTCH2 point mutation · Arteriohepatic dysplasia due to a NOTCH2 point mutation · Syndromic bile duct paucity due to a NOTCH2 point mutation
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
18
32.9th percentile
Trials
0
Interventional, condition-specific
Researchers
126
Distinct authors in sample
Gene link
NOTCH2
Strong
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012439
- OMIM:610205
- UMLS:C1857761
Additional Mondo synonyms (3)
Alagille syndrome type 2 · Alagille syndrome-NOTCH2 · syndromic bile duct paucity due to a NOTCH2 point mutation
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — NOTCH2
- LiteraturePresent
18 matched papers (15 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 trialPartial
None under the specific name; 15 for broader category Alagille syndrome
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 (NOTCH2).
GenCC classification: Strong.
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?
18
18 papers have ever been indexed 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.
18 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).
15 in the last 10 years · high confidence · 32.9th percentile (publications denominator)
Phrase hits: 18 · MeSH hits: 0
Who's working on it?
126
Distinct author names in 18 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.
- 01Abate-Daga D1 paper · 2026
Department of Immunology, Moffitt Cancer Center, Tampa, FL, USA.
Papers in Europe PMC - 02Abu Zeid IM1 paper · 2024
Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.
Papers in Europe PMC - 03Abuduxikuer K1 paper · 2022
The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Papers in Europe PMC - 04Al-Ghafari AB1 paper · 2024
Biochemistry Department, King Abdulaziz University, Jeddah, Saudi Arabia.
Papers in Europe PMC - 05Al-Rasheed RR1 paper · 2024
Experimental Biochemistry Unit, King Fahad research Center, King Abdulaziz University, Jeddah, Saudi Arabia.
Papers in Europe PMC - 06Alsulami M1 paper · 2024
Center of Excellence in Genomic Medicine Research, Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Papers in Europe PMC - 07Amano H1 paper · 2022
Department of Rare/Intractable Cancer Analysis Research, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Papers in Europe PMC - 08Antfolk D1 paper · 2026
Department of Immunology, Moffitt Cancer Center, Tampa, FL, USA.
Papers in Europe PMC - 09Bakhashab S1 paper · 2024
Biochemistry Department, King Abdulaziz University, Jeddah, Saudi Arabia.
Papers in Europe PMC - 10Basabrain MA1 paper · 2024
Center of Excellence in Genomic Medicine Research, Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Papers 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). 15 trials are registered for Alagille syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
high 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.
15 interventional trials matched Alagille syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Alagille syndrome
15
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07290257·RECRUITING·Long-Term Low-Intervention SafEty and Clinical Outcomes Clinical Study of LivmArli® in Patients With Alagille Syndrome or Progressive Familial Intrahepatic Cholestasis in the European Union (LEAP-EU)
Conditions: Alagille Syndrome · Progressive Familial Intrahepatic Cholestasis·Matched via name phrase
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.
"Alagille syndrome due to a NOTCH2 point mutation" OR "Alagille-Watson syndrome due to a NOTCH2 point mutation" OR "Arteriohepatic dysplasia due to a NOTCH2 point mutation" OR "Syndromic bile duct paucity due to a NOTCH2 point mutation" OR "Alagille syndrome type 2" OR "Alagille syndrome-NOTCH2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Alagille syndrome due to a NOTCH2 point mutation" OR "Alagille-Watson syndrome due to a NOTCH2 point mutation" OR "Arteriohepatic dysplasia due to a NOTCH2 point mutation" OR "Syndromic bile duct paucity due to a NOTCH2 point mutation" OR "Alagille syndrome type 2" OR "Alagille syndrome-NOTCH2" OR "NOTCH2"
Recall-expansion terms: NOTCH2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Alagille syndrome"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T11:18:03.937Z