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ORPHA:60040

Megalencephaly-capillary malformation-polymicrogyria syndrome

medium confidenceDisorder

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

75.2th percentile

Trials

2

Interventional, condition-specific

Researchers

1,414

Distinct authors in sample

Gene link

PIK3CA

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — PIK3CA

  2. LiteraturePresent

    390 matched papers (294 in last 10 years) Source

  3. Phenotype characterisedPresent

    64 HPO annotations (e.g. Epicanthus; Generalized hypotonia; Cutis marmorata) 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 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)

64

Associated phenotypes · MONDO:0011240

  • Epicanthus
  • Generalized hypotonia
  • Cutis marmorata
  • Nephroblastoma
  • Hernia

Showing 5 of 64 — 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

1

Drugs / clinical candidates · MONDO_0011240

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

390 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).

294 in the last 10 years · medium confidence · 75.2th percentile (publications denominator)

Phrase hits: 390 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Resta 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
  2. 02
    Carli D5 papers · 2026

    Department of Medical Science, University of Torino, Torino, Italy.

    Papers in Europe PMC
  3. 03
    Mirzaa 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
  4. 04
    Mirzaa GM5 papers · 2022

    Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

    Papers in Europe PMC
  5. 05
    Mussa 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
  6. 06
    Bagnulo 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
  7. 07
    Canaud 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
  8. 08
    Cardaropoli S4 papers · 2026

    Department of Public Health and Pediatric Sciences, School of Medicine, University of Torino, Torino, Italy.

    Papers in Europe PMC
  9. 09
    Faivre 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
  10. 10
    Luca 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 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th 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.

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 Megalencephaly-capillary malformation-polymicrogyria syndrome — 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.

"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"

Run this search on Europe PMC

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