ORPHA:60040
Megalencephaly-capillary malformation-polymicrogyria syndrome
Also known as: MCAP · MCM · MCMTC · Macrocephaly-capillary malformation syndrome · Macrocephaly-cutis marmorata telangiectatica congenita syndrome · Megalencephaly-capillary malformation syndrome · Megalencephaly-cutis marmorata telangiectatica congenita syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
390
84.5th percentile
Trials
2
Interventional, condition-specific
Researchers
1,414
Distinct authors in sample
Gene link
PIK3CA
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, and digital anomalies.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011240
- MeSH:C536142
- OMIM:602501
- UMLS:C1865285
Additional Mondo synonyms (7)
Megalencephaly-Capillary Malformation · macrocephaly-capillary malformation syndrome · macrocephaly-cutis marmorata telangiectatica congenita syndrome · megalencephaly-capillary malformation syndrome · megalencephaly-capillary malformation-polymicrogyria syndrome · megalencephaly-capillary malformation-polymicrogyria syndrome, somatic · megalencephaly-cutis marmorata telangiectatica congenita syndrome
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.
- Gene identifiedPresent
Strong — PIK3CA
- LiteraturePresent
390 matched papers (294 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 trialPresent
2 matched on ClinicalTrials.gov (2 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?
Yes — we know a specific gene responsible (PIK3CA).
GenCC classification: Strong.
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?
390
390 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.
390 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).
294 in the last 10 years · medium confidence · 84.5th percentile (publications denominator)
Phrase hits: 390 · MeSH hits: 0
Who's working on it?
1,414
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.
- 01Resta N6 papers · 2025
Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J) University of Bari "Aldo Moro", 70124, Bari, Italy.
Papers in Europe PMC - 02Carli D5 papers · 2026
Department of Medical Science, University of Torino, Torino, Italy.
Papers in Europe PMC - 03Mirzaa G5 papers · 2023
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
Papers in Europe PMC - 04Mirzaa GM5 papers · 2022
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
Papers in Europe PMC - 05Mussa A5 papers · 2026
Department of Public Health and Pediatric Sciences, School of Medicine, University of Torino, Torino, Italy. alessandro.mussa@unito.it.
Papers in Europe PMC - 06Bagnulo R4 papers · 2025
Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J) University of Bari "Aldo Moro", 70124, Bari, Italy.
Papers in Europe PMC - 07Canaud G4 papers · 2026
Overgrowth Syndrome and Vascular Anomalies Unit, Hôpital Necker Enfants Malades, INSERM U1151, Assistance Publique-Hôpitaux de Paris, Université de Paris, 149 rue de Sèvres, 75105, Paris, France. guillaume.canaud@inserm.fr.
Papers in Europe PMC - 08Cardaropoli S4 papers · 2026
Department of Public Health and Pediatric Sciences, School of Medicine, University of Torino, Torino, Italy.
Papers in Europe PMC - 09Faivre L4 papers · 2024
Centres de références Anomalies du Développement et Anomalies Dermatologiques Rares, Equipe GAD UMR1231 et FHU TRANSLAD, CHU Dijon-Bourgogne et Université de Bourgogne, Dijon, France.
Papers in Europe PMC - 10Luca M4 papers · 2026
Department of Medical Science, University of Torino, Torino, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06789913·RECRUITING·A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)
Conditions: PIK3CA-Related Overgrowth Spectrum (PROS) · Lymphatic Malformations · Vascular Malformations · PIK3CA Mutation·Matched via name phrase
- NCT05577754·RECRUITING·Assessment of the Efficacy and Safety of Alpelisib (BYL719) in Pediatric and Adult Patients With Megalencephaly-CApillary Malformation Polymicrogyria Syndrome (MCAP)
Conditions: Megalencephaly-capillary Malformation Polymicrogyria Syndrome (MCAP)·Matched via name phrase
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.
"Megalencephaly-capillary malformation-polymicrogyria syndrome" OR "MCMTC" OR "Macrocephaly-capillary malformation syndrome" OR "Macrocephaly-cutis marmorata telangiectatica congenita syndrome" OR "Megalencephaly-capillary malformation syndrome" OR "Megalencephaly-cutis marmorata telangiectatica congenita syndrome" OR "Megalencephaly-Capillary Malformation" OR "megalencephaly-capillary malformation-polymicrogyria syndrome, somatic"
MeSH descriptor terms unioned into the query: Megalencephaly cutis marmorata telangiectatica congenita
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Megalencephaly-capillary malformation-polymicrogyria syndrome" OR "MCMTC" OR "Macrocephaly-capillary malformation syndrome" OR "Macrocephaly-cutis marmorata telangiectatica congenita syndrome" OR "Megalencephaly-capillary malformation syndrome" OR "Megalencephaly-cutis marmorata telangiectatica congenita syndrome" OR "Megalencephaly-Capillary Malformation" OR "megalencephaly-capillary malformation-polymicrogyria syndrome, somatic" OR "Megalencephaly cutis marmorata telangiectatica congenita"
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: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MCAP; MCM
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 2026-07-27T01:06:06.341Z