ORPHA:370088
Acute infantile liver failure-multisystemic involvement syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
33
44.5th percentile
Trials
1
Interventional, condition-specific
Researchers
522
Distinct authors in sample
Gene link
LARS1
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0024568
- OMIM:615438
- UMLS:C3809522
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — LARS1
- LiteraturePresent
33 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 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)
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?
33
33 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.
33 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 · high confidence · 44.5th percentile (publications denominator)
Phrase hits: 33 · MeSH hits: 0
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.
- 01Lenz 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 - 02Staufner 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 - 03Crushell E4 papers · 2024
National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin, Ireland.
Papers in Europe PMC - 04Hanada R4 papers · 2024
Department of Neurophysiology, Oita University Faculty of Medicine, Yufu, Oita, 879-5593, Japan.
Papers in Europe PMC - 05Hanada 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 - 06Ihara 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 - 07Inoue M4 papers · 2024
Department of Cell Biology, Oita University Faculty of Medicine, Yufu, Oita, 879-5593, Japan.
Papers in Europe PMC - 08Maeda M4 papers · 2024
Department of Pediatrics, Oita University Faculty of Medicine, Yufu, Oita, 879-5593, Japan.
Papers in Europe PMC - 09Miyahara H4 papers · 2024
Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Aichi, 480-1195, Japan.
Papers in Europe PMC - 10Shimizu 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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th 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.
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.
"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"
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" OR "LARS1"
Recall-expansion terms: LARS1
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: 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 2026-07-27T14:54:14.732Z