ORPHA:528091
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Publications
1,071
Trials
0
Interventional, condition-specific
Researchers
355
Distinct authors in sample
Gene link
LARS2
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disease characterized by complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic , hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and renal disease, , thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the period and showing sensorineural hearing loss and have been reported.
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:0014869
- OMIM:617021
- UMLS:C4310761
Additional Mondo synonyms (3)
HLASA · hydrops, lactic acidosis, and sideroblastic anaemia · hydrops, lactic acidosis, and sideroblastic anemia
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — LARS2
- LiteraturePresent
1,071 matched papers (896 in last 10 years) Source
- Phenotype characterisedPresent
27 HPO annotations (e.g. Hypertension; Extramedullary hematopoiesis; Increased mean corpuscular volume) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (LARS2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
27
Associated phenotypes · MONDO:0014869
- Hypertension
- Extramedullary hematopoiesis
- Increased mean corpuscular volume
- Intrauterine growth retardation
- Thrombocytopenia
Showing 5 of 27 — 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 2026-07-27
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?
1,071
1,071 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,071 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).
896 in the last 10 years · low confidence
Phrase hits: 46 · MeSH hits: 0
Who's working on it?
355
Distinct author names in 46 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.
- 01Antonellis A2 papers · 2022
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, United States; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, United States. Electronic address: antonell@umich.edu.
Papers in Europe PMC - 02Christodoulou J2 papers · 2023
Discipline of Child & Adolescent Health, Sydney Medical School, Sydney, Australia.
Papers in Europe PMC - 03Cserepes M2 papers · 2025
KINETO Lab Ltd., Csillaghegyi út 19-21, H-1037 Budapest, Hungary.
Papers in Europe PMC - 04Frugier M2 papers · 2023
Université de Strasbourg, Architecture et Réactivité de l'ARN, CNRS, IBMC, Strasbourg, France.
Papers in Europe PMC - 05Li L2 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 06Mandler M2 papers · 2025
Tridem Bioscience GmbH & CoKG, Campus Vienna Biocenter, Dr.-Bohrgasse 7, 1030 Vienna, Austria.
Papers in Europe PMC - 07Rahman S2 papers · 2016
Genetics and Genomic Medicine Programme, UCL Institute of Child Health, London, UK. shamima.rahman@ucl.ac.uk.
Papers in Europe PMC - 08Riazuddin S2 papers · 2022
Allama Iqbal Medical Research Center, Jinnah Burn and Reconstructive Surgery Center, University of Health Sciences, Lahore, 54550, Pakistan.
Papers in Europe PMC - 09Riley LG2 papers · 2023
Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, Australia.
Papers in Europe PMC - 10Rudinger-Thirion J2 papers · 2023
Université de Strasbourg, Architecture et Réactivité de l'ARN, CNRS, IBMC, Strasbourg, France.
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).
Data as of 9 September 2026 · last trial check 9 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 8 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · dropped 0 · fetched 2026-07-27
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 (8)
- ctis·2025-524367-20-00·Authorised, ongoing·An open-label, single-arm extension study to evaluate the long-term safety, tolerability, and efficacy of KL1333 (napazimone) in patients with primary mitochondrial disease
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2025-522361-30-00·Authorised, recruiting·A Phase III, randomised, double-blind, placebo-controlled, parallel-group, pivotal trial to assess the efficacy and safety of sonlicromanol in adult subjects with a genetically confirmed mitochondrial DNA tRNALeu(UUR) m.3243A>G variant.
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-517514-15-00·Expired·An open-label extension study evaluating the safety of zagociguat in participants with MELAS who completed TIS6463-203
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2023-506723-28-00·Cancelled·A Multi-Center, Randomized, Single-Blind, Placebo-Controlled Study to Assess the Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral TTI-0102 for Treatment of Patients with Mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS).
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-515389-15-00·Cancelled·Phase 2b randomized, double-blind, placebo-controlled crossover study evaluating the efficacy and safety of zagociguat in participants with MELAS (PRIZM)
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2022-502629-16-00·Authorised, ongoing·A Phase 3 Randomized, Placebo-Controlled, Double-Blind, Multicenter Study to Evaluate the Efficacy and Safety of Nipocalimab in Pregnancies at Risk for Severe Hemolytic Disease of the Fetus and Newborn (HDFN).
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2022-500293-34-01·Authorised, recruiting·Phase I single arm, dose escalating and phase II double blind, randomized, placebo-controlled dose finding clinical trial assessing safety, and efficacy of intratracheal administration of allogeneic umbilical mesenchymal cells-derived extracellular vesicles in preventing bronchopulmonary dysplasia in extremely preterm newborns.
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2023-503340-13-00·Authorised, ongoing·A multicenter, double-blinded, randomized, placebo-controlled trial to compare the effectiveness of intratympanic injections methylPREDnisolone versus placebo in the treatment of vertigo attacks in MENière’s disease (PREDMEN trial).
Uncertain — At least one provider returned uncertain or parent-category.
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 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome — check Associations / patient organisations on that page.
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.
("Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome" OR "HLASA" OR "hydrops, lactic acidosis, and sideroblastic anaemia" OR "hydrops, lactic acidosis, and sideroblastic anemia") OR ("LARS2" OR "LARS2 syndrome" OR "LARS2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome" OR "HLASA" OR "hydrops, lactic acidosis, and sideroblastic anaemia" OR "hydrops, lactic acidosis, and sideroblastic anemia"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 (1071) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T01:33:25.583Z