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ORPHA:563589

Seronegative autoimmune hepatitis

high confidenceSubtype of disorder

Also known as: Autoantibody-negative autoimmune hepatitis · Seronegative AIH

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

179

73.1th percentile

Trials

0

Interventional, condition-specific

Researchers

1,110

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, , ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

autoantibody-negative 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.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    179 matched papers (144 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 41 for broader category autoimmune hepatitis

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?

179

179 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.

179 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).

144 in the last 10 years · high confidence · 73.1th percentile (publications denominator)

Phrase hits: 179 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,110

Distinct author names in 179 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.

  1. 01
    Taubert R6 papers · 2025

    Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany. taubert.richard@mh-hannover.de.

    Papers in Europe PMC
  2. 02
    Alam S5 papers · 2025

    Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, 110070, India. seema_alam@hotmail.com.

    Papers in Europe PMC
  3. 03
    Czaja AJ5 papers · 2016

    Department of Gastroenterology, Hacettepe University School of Ankara, Ankara, Turkey.

    Papers in Europe PMC
  4. 04
    Engel B5 papers · 2025

    Department of Gastroenterology, Hepatology, Infectious Diseases and Endocrinology, Hannover Medical School, Carl-Neuberg-Straße 1, 30625, Hannover, Germany. Engel.Bastian@mh-hannover.de.

    Papers in Europe PMC
  5. 05
    Maggiore G5 papers · 2023

    Pediatric Hepatology and Liver Transplantation, ISMETT-University of Pittsburgh Medical Center Italy, Palermo, Italy.

    Papers in Europe PMC
  6. 06
    Nastasio S5 papers · 2023

    Division of Gastroenterology, Hepatology, and Nutrition, Harvard Medical School, Boston Children's Hospital, Boston, MA, United States.

    Papers in Europe PMC
  7. 07
    Sciveres M5 papers · 2023

    Pediatric Hepatology and Liver Transplantation, ISMETT-University of Pittsburgh Medical Center Italy, Palermo, Italy.

    Papers in Europe PMC
  8. 08
    Dalekos GN4 papers · 2026

    Department of Medicine and Research Laboratory of Internal Medicine, Expertise Center of Greece in Autoimmune Liver Diseases, General University Hospital of Larissa, Larissa, Greece (George N. Dalekos, Eirini I. Rigopoulou).

    Papers in Europe PMC
  9. 09
    Jaeckel E4 papers · 2024

    Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany.

    Papers in Europe PMC
  10. 10
    Manns MP4 papers · 2024

    Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany.

    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). 41 trials are registered for autoimmune hepatitis, 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.

41 interventional trials matched autoimmune hepatitis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: autoimmune hepatitis

41

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

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 2026-07-26

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.

"Seronegative autoimmune hepatitis" OR "Autoantibody-negative autoimmune hepatitis" OR "Seronegative AIH"

Run this search on Europe PMC

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

"Seronegative autoimmune hepatitis" OR "Autoantibody-negative autoimmune hepatitis" OR "Seronegative AIH" OR "autoimmune disorder of endocrine system" OR "autoimmune disorder of exocrine system" OR "autoimmune disorder of gastrointestinal tract"

Recall-expansion terms: autoimmune disorder of endocrine system, autoimmune disorder of exocrine system, autoimmune disorder of gastrointestinal tract

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

Parent-category trials query:

"autoimmune hepatitis"

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 2026-07-27T18:21:22.986Z