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ORPHA:137935

Airway infantile hemangioma

high confidenceDisorder

Also known as: Airway infantile haemangioma · Laryngotracheal angioma

Publications

254

61.3th percentile

Trials

0

Interventional, condition-specific

Researchers

991

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare benign vascular tumor characterized by rapid growth after birth (followed by spontaneous partial regression over the course of years), potentially leading to life-threatening airway obstruction due to the subglottic location. Patients present with respiratory symptoms including biphasic stridor, recurrent croup, cyanosis, apnea, and sternal and intercostal retractions. The tumor may be accompanied by cutaneous hemangiomata, especially in the lower facial ("beard") distribution.

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    254 matched papers (133 in last 10 years) Source

  3. Phenotype characterisedPresent

    13 HPO annotations (e.g. Stridor; Facial hemangioma; Delayed speech and language development) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 55 for broader category hemangioma

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

13

Associated phenotypes · MONDO:0015317

  • Stridor
  • Facial hemangioma
  • Delayed speech and language development
  • Cyanosis
  • Vomiting

Showing 5 of 13 — 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 2026-07-29

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?

254

254 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=3967) is 59.

254 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).

133 in the last 10 years · high confidence · 61.3th percentile (publications denominator)

Phrase hits: 254 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

991

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.

  1. 01
    Perkins JA8 papers · 2021

    Division of Pediatric Otolaryngology, Seattle Children's Hospital, Seattle, WA 98105-0371, USA. jonathan.perkins@seattlechildrens.org

    Papers in Europe PMC
  2. 02
    Corry DB7 papers · 2026

    Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  3. 03
    Frieden IJ7 papers · 2021

    Department of Dermatology, University of California, San Francisco.

    Papers in Europe PMC
  4. 04
    Kheradmand F6 papers · 2026

    Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  5. 05
    Knight JM6 papers · 2026

    Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  6. 06
    Guo Y5 papers · 2026

    Department of Neurosurgery, Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510630, P.R. China.

    Papers in Europe PMC
  7. 07
    Luong AU4 papers · 2026

    Center for Immunology and Autoimmune Diseases, The Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, United States.

    Papers in Europe PMC
  8. 08
    Polsky K4 papers · 2026

    Department of Medicine, Baylor College of Medicine, Houston, TX, United States.

    Papers in Europe PMC
  9. 09
    Richter GT4 papers · 2025

    Department of Otolaryngology-Head and Neck Surgery, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

    Papers in Europe PMC
  10. 10
    Rosbe KW4 papers · 2021

    Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of California, San Francisco, 2330 Post St, Ste 310, San Francisco, CA 94143-0342, USA. krosbe@ohns.ucsf.edu

    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). 55 trials are registered for hemangioma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 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.

high 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.

55 interventional trials matched hemangioma, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: hemangioma

55

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 Airway infantile hemangioma — check Associations / patient organisations on that page.

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.

"Airway infantile hemangioma" OR "Airway infantile haemangioma" OR "Laryngotracheal angioma"

Run this search on Europe PMC

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

"Airway infantile hemangioma" OR "Airway infantile haemangioma" OR "Laryngotracheal angioma"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hemangioma"

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

Ingested 2026-07-27T07:33:37.126Z