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ORPHA:2137

Autoimmune hepatitis

medium confidenceDisorder

Also known as: AIH

Publications

31,959

98.6th percentile

Trials

41

Interventional, condition-specific

Researchers

1,182

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare liver disease characterized by immune-mediated, acute or chronic liver inflammation, clinically presenting as cryptogenic hepatitis, with interface hepatitis on histological examination, elevated serum aminotransferase levels, and hypergammaglobulinemia / elevated immunoglobulin G, in the presence or absence of specific circulating autoantibodies. Patients may be asymptomatic, chronically ill, or present with acute liver failure. Concurrent autoimmune diseases are frequently observed.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

autoimmune hepatitis

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.”

4/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    31,959 matched papers (21,585 in last 10 years) Source

  3. Phenotype characterisedPresent

    70 HPO annotations (e.g. Elevated circulating hepatic transaminase concentration; Anti-hexokinase-1 antibody positivity; Cirrhosis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    3 FDA designations (3 FDA orphan-indication approvals) — e.g. budesonide Source

  6. Interventional trialPresent

    41 matched on ClinicalTrials.gov (8 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

70

Associated phenotypes · MONDO:0016264

  • Elevated circulating hepatic transaminase concentration
  • Anti-hexokinase-1 antibody positivity
  • Cirrhosis
  • Hyperbilirubinemia
  • Elevated circulating alkaline phosphatase concentration

Showing 5 of 70 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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 · 3 with FDA orphan-indication approval

  • FDA budesonideAutoimmune hepatitis · 2019-02-01 · Not FDA Approved for Orphan Indication
  • FDA cannabidiolAutoimmune hepatitis · 2018-06-25 · Not FDA Approved for Orphan Indication
  • FDA naltrexoneAutoimmune hepatitis · 2015-01-13 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

32

Drugs / clinical candidates · MONDO_0016264

CTD chemicals (MyDisease.info)

23 associated chemicals · 206 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Azathioprine · therapeutic
  • celastrol · therapeutic
  • Mercaptopurine · therapeutic
  • Mycophenolic Acid · therapeutic
  • Prednisolone · therapeutic
  • Prednisone · therapeutic
  • rhoifolin · therapeutic
  • Atorvastatin · marker/mechanism
  • Cyproterone Acetate · marker/mechanism
  • Imatinib Mesylate · marker/mechanism
  • Indomethacin · marker/mechanism
  • isaxonine · marker/mechanism

Pathways: Glycolysis / Gluconeogenesis; Pentose phosphate pathway; Fructose and mannose metabolism; Metabolic pathways; Carbon metabolism; Biosynthesis of amino acids; EGFR tyrosine kinase inhibitor resistance; Antifolate resistance

MyDisease.info · MONDO:0016264

Literature

Is anyone studying this?

31,959

31,959 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.

31,959 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).

21,585 in the last 10 years · medium confidence · 98.6th percentile (publications denominator)

Phrase hits: 31,959 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,182

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
    Zhang Y9 papers · 2026

    Department of Clinical Laboratory, Hangzhou Xixi Hospital, Hangzhou Sixth People's Hospital, Hangzhou Xixi Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou, 310023, Zhejiang, China.

    Papers in Europe PMC
  2. 02
    Chen Y6 papers · 2026

    Fourth Department of Liver Disease, Beijing Youan Hospital, Capital Medical University, Beijing, 100069, China.

    Papers in Europe PMC
  3. 03
    Shen Y6 papers · 2026

    Department of Gastroenterology and Hepatology and Laboratory of Gastrointestinal Cancer and Liver Disease, West China Hospital, Sichuan University, Chengdu, 610041, China.

    Papers in Europe PMC
  4. 04
    Zhao X6 papers · 2026

    Department of Urology, Qilu Hospital of Shandong University, State Key Laboratory of Discovery and Utilization of Functional Components in Traditional Chinese Medicine, Shandong Key Laboratory of Targeted Drug Delivery and Advanced Pharmaceutics, NMPA Key Laboratory for Technology Research and Evaluation of Drug Products and Key Laboratory of Chemical Biology (Ministry of Education), School of Pharmaceutical Sciences, Cheeloo College of Medicine, Shandong University, 107 Wenhua Xi Road, Jinan 250012, Shandong, China.

    Papers in Europe PMC
  5. 05
    Wang X5 papers · 2026

    Department of Gastroenterology and Hepatology and Laboratory of Gastrointestinal Cancer and Liver Disease, West China Hospital, Sichuan University, Chengdu, 610041, China.

    Papers in Europe PMC
  6. 06
    Abe K4 papers · 2026

    Department of Gastroenterology, Fukushima Medical University School of Medicine, Fukushima, Japan.

    Papers in Europe PMC
  7. 07
    Dong Y4 papers · 2026

    Department of Gastroenterology and Hepatology, and Laboratory of Gastrointestinal Cancer and Liver Disease, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.

    Papers in Europe PMC
  8. 08
    Fan X4 papers · 2026

    Department of Gastroenterology and Hepatology and Laboratory of Gastrointestinal Cancer and Liver Disease, West China Hospital, Sichuan University, Chengdu, 610041, China.

    Papers in Europe PMC
  9. 09
    Li J4 papers · 2026

    State Key Laboratory of Pharmaceutical Biotechnology, Department of Pancreatic and Metabolic Surgery, Nanjing Drum Tower Hospital, School of Life Sciences, Nanjing University, Nanjing, China.

    Papers in Europe PMC
  10. 10
    Li Y4 papers · 2026

    Department of Critical Care Medicine, Shengjing Hospital of China Medical University, Shenyang, Liaoning Province, 110004, People's Republic of China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

41

interventional trials for this specific condition

41 interventional trials matched this specific condition name; 8 currently recruiting in our sample. 3,377 trials are registered for hepatitis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

41 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.8th percentile).

medium confidence · 96.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: hepatitis

3,377

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

Observational and natural-history studies

32 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 41 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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 (40)

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 Autoimmune hepatitis — 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.

"Autoimmune hepatitis"

Run this search on Europe PMC

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

"Autoimmune hepatitis"

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: 41 interventional · 32 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hepatitis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: AIH

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 2026-07-26T19:15:34.137Z