ORPHA:528091
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
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.
Is anyone studying this?
46
46 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=183) is 38.
46 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
32 in the last 10 years · high confidence · 46.7th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (LARS2).
GenCC classification: Strong.
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
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
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 below 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"
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" OR "LARS2"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:617021 UMLS:C4310761
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