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ORPHA:675380

Isolated segmental infantile hemangioma

high confidenceDisorder

Also known as: Isolated segmental infantile haemangioma · Large segmental haemangioma · Large segmental hemangioma · Segmental haemangioma of infancy · Segmental hemangioma of infancy

Publications

25

29.2th percentile

Trials

0

Interventional, condition-specific

Researchers

128

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

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.”

2/6 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

    25 matched papers (11 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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?

25

25 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.

25 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).

11 in the last 10 years · high confidence · 29.2th percentile (publications denominator)

Phrase hits: 25 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

128

Distinct author names in 25 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
    Siegel DH4 papers · 2021

    Department of Dermatology, Medical College of Wisconsin, Milwaukee, WI.

    Papers in Europe PMC
  2. 02
    Chamlin SL3 papers · 2021

    Division of Pediatric Dermatology, The Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.

    Papers in Europe PMC
  3. 03
    Drolet BA3 papers · 2021

    Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, WI. Electronic address: bdrolet@mcw.edu.

    Papers in Europe PMC
  4. 04
    Frieden IJ3 papers · 2021

    Department of Dermatology, University of California, San Francisco, San Francisco, CA.

    Papers in Europe PMC
  5. 05
    Garzon MC2 papers · 2021

    Departments of Dermatology and Pediatrics, Columbia University, New York, NY.

    Papers in Europe PMC
  6. 06
    Haggstrom AN2 papers · 2021

    Departments of Dermatology and Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana.

    Papers in Europe PMC
  7. 07
    Liang MG2 papers · 2021

    Department of Dermatology, Harvard Medical School, Boston, MA.

    Papers in Europe PMC
  8. 08
    Mancini AJ2 papers · 2021

    Departments of Pediatrics and Dermatology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

    Papers in Europe PMC
  9. 09
    Pope E2 papers · 2021

    Section of Pediatric Dermatology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

    Papers in Europe PMC
  10. 10
    Tollefson MM2 papers · 2021

    Department of Dermatology and Pediatrics, Mayo Clinic, Rochester, MN.

    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 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.

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 2026-07-27

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).

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 Isolated segmental 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.

"Isolated segmental infantile hemangioma" OR "Isolated segmental infantile haemangioma" OR "Large segmental haemangioma" OR "Large segmental hemangioma" OR "Segmental haemangioma of infancy" OR "Segmental hemangioma of infancy"

Run this search on Europe PMC

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

"Isolated segmental infantile hemangioma" OR "Isolated segmental infantile haemangioma" OR "Large segmental haemangioma" OR "Large segmental hemangioma" OR "Segmental haemangioma of infancy" OR "Segmental haemangioma of the infancy" OR "Segmental hemangioma of infancy" OR "Segmental hemangioma of the infancy"

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 2026-07-26T02:26:39.059Z