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ORPHA:79490

Microcystic lymphatic malformation

high confidenceSubtype of disorder

Also known as: Capillary lymphangioma · Capillary lymphatic malformation · Cutaneous lymphangioma circumscriptum · Microcystic infiltrating lymphatic malformation · Microcystic lymphangioma · Superficial lymphangioma · Superficial lymphatic malformation

Publications

418

72.7th percentile

Trials

4

Interventional, condition-specific

Researchers

1,037

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare common cystic lymphatic characterized by a benign cystic lesion composed of dilated lymphatic channels. Microcystic lesions consist of cysts smaller than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

capillary lymphatic malformation · cutaneous lymphangioma circumscriptum · microcystic infiltrating lymphatic malformation · microcystic lymphangioma · superficial lymphangioma · superficial lymphatic malformation

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    418 matched papers (262 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 trialPresent

    4 matched on ClinicalTrials.gov

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 2026-07-29

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?

418

418 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.

418 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).

262 in the last 10 years · high confidence · 72.7th percentile (publications denominator)

Phrase hits: 418 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,037

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
    Maruani A7 papers · 2026

    Department of Dermatology and Reference Center for Rare Diseases and Vascular Malformations (MAGEC), CHRU Tours, Avenue de la République, 37044, Tours, Cedex 9, France. annabel.maruani@univ-tours.fr.

    Papers in Europe PMC
  2. 02
    Wang H7 papers · 2026

    Dermatology Hospital, Southern Medical University, No.2 Lujing Road, Guangzhou, 510091, China.

    Papers in Europe PMC
  3. 03
    Giraudeau B5 papers · 2026

    Clinical Investigation Center, INSERM 1415, CHRU Tours, 37000, Tours, France.

    Papers in Europe PMC
  4. 04
    Guo Z5 papers · 2026

    Department of Pediatric Surgery, Xi'an International Medical Center Hospital, Xi'an, China.

    Papers in Europe PMC
  5. 05
    Leducq S5 papers · 2023

    Department of Dermatology and Reference Center for Rare Diseases and Vascular Malformations (MAGEC), CHRU Tours, Avenue de la République, 37044, Tours, Cedex 9, France.

    Papers in Europe PMC
  6. 06
    Lin W5 papers · 2026

    Department of Pediatric Surgery, Xi'an International Medical Center Hospital, Xi'an, China.

    Papers in Europe PMC
  7. 07
    Xie C5 papers · 2026

    Department of Pediatric Surgery, Xi'an International Medical Center Hospital, Xi'an, China.

    Papers in Europe PMC
  8. 08
    Yang W5 papers · 2026

    Department of Pediatric Surgery, Xi'an International Medical Center Hospital, Xi'an, China.

    Papers in Europe PMC
  9. 09
    Adams DM4 papers · 2024

    Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; denise.adams@cchmc.org.

    Papers in Europe PMC
  10. 10
    Gupta A4 papers · 2026

    Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts;

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

high confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Microcystic lymphatic malformation — 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.

"Microcystic lymphatic malformation" OR "Capillary lymphangioma" OR "Capillary lymphatic malformation" OR "Cutaneous lymphangioma circumscriptum" OR "Microcystic infiltrating lymphatic malformation" OR "Microcystic lymphangioma" OR "Superficial lymphangioma" OR "Superficial lymphatic malformation"

Run this search on Europe PMC

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

"Microcystic lymphatic malformation" OR "Capillary lymphangioma" OR "Capillary lymphatic malformation" OR "Cutaneous lymphangioma circumscriptum" OR "Microcystic infiltrating lymphatic malformation" OR "Microcystic lymphangioma" OR "Superficial lymphangioma" OR "Superficial lymphatic malformation"

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: 4 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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 2026-07-27T02:29:44.131Z