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ORPHA:2248

Hypoplastic left heart syndrome

low confidenceDisorder

Also known as: HLHS

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

10,746

Trials

36

Interventional, condition-specific

Researchers

1,269

Distinct authors in sample

Gene link

DENND5B

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, , non-syndromic, heart characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

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.

  1. Gene identifiedPresent

    Limited — DENND5B

  2. LiteraturePresent

    10,746 matched papers (6,119 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    36 matched on ClinicalTrials.gov (5 recruiting in sample)

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?

Possibly — only limited evidence so far for DENND5B.

GenCC classification: Limited.

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?

10,746

10,746 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

10,746 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).

6,119 in the last 10 years · low confidence

Phrase hits: 10,746 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,269

Distinct author names in 200 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
    Ewert P7 papers · 2026

    Clinic of Congenital Heart Disease and Pediatric Cardiology, German Heart Center, TUM University Hospital, Technical University of Munich, Munich, 80636, Germany.

    Papers in Europe PMC
  2. 02
    Hörer J7 papers · 2026

    Department of Congenital and Pediatric Heart Surgery, TUM University Hospital, German Heart Center, Munich, Germany.

    Papers in Europe PMC
  3. 03
    Hager A6 papers · 2026

    Department of Congenital Heart Disease and Pediatric Cardiology, TUM University Hospital, German Heart Center, Munich, Germany.

    Papers in Europe PMC
  4. 04
    Ono M6 papers · 2026

    Department of Congenital and Pediatric Heart Surgery, TUM University Hospital, German Heart Center, Munich, Germany.

    Papers in Europe PMC
  5. 05
    Heinisch PP5 papers · 2026

    Department of Congenital and Pediatric Heart Surgery, TUM University Hospital, German Heart Center, Munich, Germany.

    Papers in Europe PMC
  6. 06
    Kalfa D5 papers · 2026

    Section of Pediatric and Congenital Cardiac Surgery, Morgan Stanley Children's Hospital/Columbia University Irving Medical Center, New York, NY.

    Papers in Europe PMC
  7. 07
    Matsubara M5 papers · 2026

    Department of Congenital and Pediatric Heart Surgery, TUM University Hospital, German Heart Center, Munich, Germany.

    Papers in Europe PMC
  8. 08
    Palm J5 papers · 2026

    Department of Congenital Heart Disease and Pediatric Cardiology, TUM University Hospital, German Heart Center, Munich, Germany.

    Papers in Europe PMC
  9. 09
    Piber N5 papers · 2026

    Department of Cardiovascular Surgery, TUM University Hospital, German Heart Center, Munich, Germany.

    Papers in Europe PMC
  10. 10
    Schaeffer T5 papers · 2026

    Department of Congenital and Pediatric Heart Surgery, TUM University Hospital, German Heart Center, Munich, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

36

interventional trials for this specific condition

36 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 27 July 2026

36 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.1th percentile).

low confidence · 96.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

21 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Hypoplastic left heart syndrome"

Run this search on Europe PMC

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

"Hypoplastic left heart syndrome" OR "DENND5B"

Recall-expansion terms: DENND5B

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: 36 interventional · 21 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

Synonyms dropped by stoplist: HLHS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (10746) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T19:34:37.958Z