ORPHA:464321
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Also known as: Cutaneovisceral angiomatosis-thrombocytopenia syndrome · MLT · Multifocal lymphangioendotheliomatosis with thrombocytopenia
Publications
50
45.7th percentile
Trials
0
Interventional, condition-specific
Researchers
267
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare lymphatic system anomaly characterized by multifocal and vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018735
- UMLS:C5575322
- NCIT:C60672
Additional Mondo synonyms (6)
DKFZp434L132 · MALT1 wt allele · MLT1 · cutaneovisceral angiomatosis-thrombocytopenia syndrome · mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele · multifocal lymphangioendotheliomatosis with thrombocytopenia
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
50 matched papers (33 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
50
50 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.
50 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).
33 in the last 10 years · medium confidence · 45.7th percentile (publications denominator)
Phrase hits: 50 · MeSH hits: 0
Who's working on it?
267
Distinct author names in 50 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.
- 01Drolet BA5 papers · 2017
Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin.
Papers in Europe PMC - 02North PE3 papers · 2012
Departments of Pathology and Otolaryngology, the University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR 72202, USA.
Papers in Europe PMC - 03Adams DM2 papers · 2023
Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Papers in Europe PMC - 04Baron HI2 papers · 2016
Pediatric Gastroenterology and Nutrition Associates, Sunrise Children's Hospital, Las Vegas, NV, USA.
Papers in Europe PMC - 05Frieden IJ2 papers · 2012Papers in Europe PMC
- 06Nguyen K2 papers · 2023
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 07Perkins J2 papers · 2018
Division of Pediatric Otolaryngology, Department of Surgery, Seattle Children's Hospital and Department of Otolaryngology-Head and Neck Surgery, University of Washington School of Medicine, Seattle, Washington, United States.
Papers in Europe PMC - 08Pope E2 papers · 2025
Division of Pediatric Dermatology, The Hospital for Sick Children, Toronto, ON.
Papers in Europe PMC - 09
- 10Abbey P1 paper · 2021
Department of Radio-Diagnosis, Lady Hardinge Medical College and Associated Hospitals, New Delhi, India.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
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.
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.
"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome" OR "Cutaneovisceral angiomatosis-thrombocytopenia syndrome" OR "Multifocal lymphangioendotheliomatosis with thrombocytopenia" OR "DKFZp434L132" OR "MALT1 wt allele" OR "mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome" OR "Cutaneovisceral angiomatosis-thrombocytopenia syndrome" OR "Multifocal lymphangioendotheliomatosis with thrombocytopenia" OR "DKFZp434L132" OR "MALT1 wt allele" OR "mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele"
Study-type breakdown: 0 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
Synonyms dropped by stoplist: MLT; MLT1
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T16:54:50.201Z