ORPHA:2189
Hydrolethalus
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
319
73.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,259
Distinct authors in sample
Gene link
HYLS1
Moderate
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Hydrolethalus (HLS) is a severe fetal syndrome characterized by craniofacial features, central nervous system, cardiac, respiratory tract and limb abnormalities.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0006037
- MeSH:C536079
- UMLS:C2931104
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Moderate — HYLS1
- LiteraturePresent
319 matched papers (144 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 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?
Probably — there is moderate evidence for HYLS1.
GenCC classification: Moderate.
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?
319
319 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.
319 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 · medium confidence · 73.1th percentile (publications denominator)
Phrase hits: 319 · MeSH hits: 0
Who's working on it?
1,259
Distinct author names in 200 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.
- 01Salonen R7 papers · 2009
Department of Obstetrics and Gynaecology, Helsinki University Central Hospital, Finland.
Papers in Europe PMC - 02Zhang Y6 papers · 2024
Center for Energy Metabolism and Reproduction, Institute of Biomedicine and Biotechnology, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences (CAS), Shenzhen, 518055, China.
Papers in Europe PMC - 03Chen C5 papers · 2026
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, 55905, USA.
Papers in Europe PMC - 04Hu J5 papers · 2026
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, 55905, USA.
Papers in Europe PMC - 05Chen CP4 papers · 2012
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
Papers in Europe PMC - 06Chen X4 papers · 2019
Department of Microbiology and Immunology, Beijing University of Chinese Medicine, Beijing 100029, PR China
Papers in Europe PMC - 07Dammermann A4 papers · 2020
Max F. Perutz Laboratories, University of Vienna, Vienna Biocenter (VBC), A-1030 Vienna, Austria alex.dammermann@univie.ac.at.
Papers in Europe PMC - 08Ling K4 papers · 2026
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, 55905, USA.
Papers in Europe PMC - 09Thomas S4 papers · 2021
Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163 Institut Imagine, Paris, France.
Papers in Europe PMC - 10Valente EM4 papers · 2024
Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
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 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.
medium 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.
See who's working on it — 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 on the overview but are not added to the query string.
"Hydrolethalus"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hydrolethalus" OR "HYLS1"
Recall-expansion terms: HYLS1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T19:25:09.747Z