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ORPHA:370088

Acute infantile liver failure-multisystemic involvement syndrome

medium confidenceDisorder

Publications

306

74.8th percentile

Trials

1

Interventional, condition-specific

Researchers

522

Distinct authors in sample

Gene link

LARS1

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with , , moderate global , , abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illnesses can exacerbate deterioration of liver failure.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

LARS infantile liver failure · Lars infantile liver failure · infantile liver failure caused by mutation in LARS · infantile liver failure caused by mutation in Lars · infantile liver failure syndrome 1 · infantile liver failure syndrome type 1

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — LARS1

  2. LiteraturePresent

    306 matched papers (290 in last 10 years) Source

  3. Phenotype characterisedPresent

    20 HPO annotations (e.g. Hepatic steatosis; Microcephaly; Abnormality of the coagulation cascade) Source

  4. Animal modelPresent

    2 genotype models (Danio rerio) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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 (LARS1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

20

Associated phenotypes · MONDO:0024568

  • Hepatic steatosis
  • Microcephaly
  • Abnormality of the coagulation cascade
  • Seizure
  • Full cheeks

Showing 5 of 20 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

306

306 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=3967) is 59.

306 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).

290 in the last 10 years · medium confidence · 74.8th percentile (publications denominator)

Phrase hits: 33 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

522

Distinct author names in 33 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
    Lenz D5 papers · 2025

    Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine, Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.

    Papers in Europe PMC
  2. 02
    Staufner C5 papers · 2025

    Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine, Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.

    Papers in Europe PMC
  3. 03
    Crushell E4 papers · 2024

    National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin, Ireland.

    Papers in Europe PMC
  4. 04
    Hanada R4 papers · 2024

    Department of Neurophysiology, Oita University Faculty of Medicine, Yufu, Oita, 879-5593, Japan.

    Papers in Europe PMC
  5. 05
    Hanada T4 papers · 2024

    Department of Cell Biology, Oita University Faculty of Medicine, Yufu, Oita, 879-5593, Japan. thanada@oita-u.ac.jp.

    Papers in Europe PMC
  6. 06
    Ihara K4 papers · 2024

    Department of Pediatrics, Oita University Faculty of Medicine, Yufu, Oita, 879-5593, Japan. k-ihara@oita-u.ac.jp.

    Papers in Europe PMC
  7. 07
    Inoue M4 papers · 2024

    Department of Cell Biology, Oita University Faculty of Medicine, Yufu, Oita, 879-5593, Japan.

    Papers in Europe PMC
  8. 08
    Maeda M4 papers · 2024

    Department of Pediatrics, Oita University Faculty of Medicine, Yufu, Oita, 879-5593, Japan.

    Papers in Europe PMC
  9. 09
    Miyahara H4 papers · 2024

    Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Aichi, 480-1195, Japan.

    Papers in Europe PMC
  10. 10
    Shimizu N4 papers · 2024

    Department of Cell Biology, Oita University Faculty of Medicine, Yufu, Oita, 879-5593, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: infantile liver failure

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 Acute infantile liver failure-multisystemic involvement syndrome — 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.

("Acute infantile liver failure-multisystemic involvement syndrome" OR "LARS infantile liver failure" OR "infantile liver failure caused by mutation in LARS" OR "infantile liver failure syndrome 1" OR "infantile liver failure syndrome type 1") OR ("LARS1" OR "LARS1 syndrome" OR "LARS1-related")

Run this search on Europe PMC

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

"Acute infantile liver failure-multisystemic involvement syndrome" OR "LARS infantile liver failure" OR "infantile liver failure caused by mutation in LARS" OR "infantile liver failure syndrome 1" OR "infantile liver failure syndrome type 1"

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

Parent-category trials query:

"infantile liver failure"

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
  • Publication count (306) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T14:54:14.732Z