RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:101070

Bilateral frontoparietal polymicrogyria

low confidenceSubtype of disorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,131

Trials

0

Interventional, condition-specific

Researchers

1,377

Distinct authors in sample

Gene link

ADGRG1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with , , moderate to severe , pyramidal signs, epileptic , non cerebellar , dysconjugate gaze and/or strabismus.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

bilateral frontoparietal polymicrogyria

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — ADGRG1

  2. LiteraturePresent

    1,131 matched papers (967 in last 10 years) Source

  3. Phenotype characterisedPresent

    45 HPO annotations (e.g. Broad-based gait; Cerebral dysmyelination; Abnormal facial shape) 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 trialPartial

    None under the specific name; 3 for broader category polymicrogyria

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 (ADGRG1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

45

Associated phenotypes · MONDO:0011738

  • Broad-based gait
  • Cerebral dysmyelination
  • Abnormal facial shape
  • Ventriculomegaly
  • Intellectual disability

Showing 5 of 45 — 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

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?

1,131

1,131 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,131 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).

967 in the last 10 years · low confidence

Phrase hits: 200 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,377

Distinct author names in 200 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
    Piao X35 papers · 2026

    Division of Newborn Medicine, Department of Medicine, Children's Hospital and Harvard Medical School, Boston, United States.

    Papers in Europe PMC
  2. 02
    Luo R16 papers · 2020

    Division of Newborn Medicine, Department of Medicine, Children's Hospital and Harvard Medical School, Boston, United States.

    Papers in Europe PMC
  3. 03
    Walsh CA13 papers · 2020

    Division of Genetics and Genomics, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA.

    Papers in Europe PMC
  4. 04
    Lin HH12 papers · 2026

    Department of Experimental Immunology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands (J.H.); Department of Surgery, Research Laboratories (G.A), and Institute of Biochemistry (I.L., S.P., T.S.), Medical Faculty, University of Leipzig, Leipzig, Germany; Department of Biochemistry and Molecular Biology, University of Chicago, Chicago, Illinois (D.A.); Department of Nephropathology, Institute of Pathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany (F.B.E.); MRC Centre for Developmental Neurobiology, King's College London, London, United Kingdom (C.F.); Department of Neuroscience, Functional Pharmacology, Uppsala University, Uppsala, Sweden (R.F., A.K., H.B.S.); Department of Pharmacology, Emory University School of Medicine, Atlanta, Georgia (R.A.H.); Department of Developmental Biology, Washington University School of Medicine, St. Louis, Missouri (B.L.H., K.R.M.); Department for Andrology, University Hospital Hamburg-Eppendorf, Hamburg, Germany (C.K.); Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University Mainz, Mainz, Germany (B.K., U.W.); Department of Microbiology and Immunology, College of Medicine, Chang Gung University, Tao-Yuan, Taiwan (H.-H.L.); Department of Molecular and Cellular Physiology (D.C.M.) and Division of Hematology (M.V.), Stanford University School of Medicine, Stanford, California; Leiden Academic Centre for Drug Research, Leiden University, Leiden, The Netherlands (M.C.P.); Department of Neuroscience and Pharmacology and Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark (M.C.P., T.W.S.); Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (X.P., K.S.); Faculty of Biological Sciences, University of Leeds, Leeds, United Kingdom (M.S.); Medway School of Pharmacy, University of Kent, Chatham, United Kingdom (Y.A.U.); HUGO Gene Nomen

    Papers in Europe PMC
  5. 05
    Guerrini R11 papers · 2020

    Department of Neuroscience, Pharmacology and Child Health, Children's Hospital A Meyer and University of Florence, Florence, Italy; Stella Maris Foundation Research Institute, Pisa, Italy. Electronic address: r.guerrini@meyer.it.

    Papers in Europe PMC
  6. 06
    Hall RA10 papers · 2026

    Department of Experimental Immunology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands (J.H.); Department of Surgery, Research Laboratories (G.A), and Institute of Biochemistry (I.L., S.P., T.S.), Medical Faculty, University of Leipzig, Leipzig, Germany; Department of Biochemistry and Molecular Biology, University of Chicago, Chicago, Illinois (D.A.); Department of Nephropathology, Institute of Pathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany (F.B.E.); MRC Centre for Developmental Neurobiology, King's College London, London, United Kingdom (C.F.); Department of Neuroscience, Functional Pharmacology, Uppsala University, Uppsala, Sweden (R.F., A.K., H.B.S.); Department of Pharmacology, Emory University School of Medicine, Atlanta, Georgia (R.A.H.); Department of Developmental Biology, Washington University School of Medicine, St. Louis, Missouri (B.L.H., K.R.M.); Department for Andrology, University Hospital Hamburg-Eppendorf, Hamburg, Germany (C.K.); Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University Mainz, Mainz, Germany (B.K., U.W.); Department of Microbiology and Immunology, College of Medicine, Chang Gung University, Tao-Yuan, Taiwan (H.-H.L.); Department of Molecular and Cellular Physiology (D.C.M.) and Division of Hematology (M.V.), Stanford University School of Medicine, Stanford, California; Leiden Academic Centre for Drug Research, Leiden University, Leiden, The Netherlands (M.C.P.); Department of Neuroscience and Pharmacology and Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark (M.C.P., T.W.S.); Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (X.P., K.S.); Faculty of Biological Sciences, University of Leeds, Leeds, United Kingdom (M.S.); Medway School of Pharmacy, University of Kent, Chatham, United Kingdom (Y.A.U.); HUGO Gene Nomen

    Papers in Europe PMC
  7. 07
    Monk KR10 papers · 2019

    Department of Developmental Biology, Washington University School of Medicine, St. Louis, United States.

    Papers in Europe PMC
  8. 08
    Dobyns WB9 papers · 2020

    Departments of Pediatrics and Neurology, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.

    Papers in Europe PMC
  9. 09
    Tall GG9 papers · 2026

    Department of Pharmacology, University of Michigan Medical Center, Ann Arbor, United States.

    Papers in Europe PMC
  10. 10
    Barkovich AJ8 papers · 2012

    Neuroradiology Room L371, University of California at San Francisco, 505 Parnassus Avenue, San Francisco, CA 94143-0628, USA. Jim.Barkovich@radiology.ucsf.edu

    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). 3 trials are registered for polymicrogyria, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 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.

low 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.

3 interventional trials matched polymicrogyria, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: polymicrogyria

3

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 2026-07-30

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).

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 Bilateral frontoparietal polymicrogyria — 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.

("Bilateral frontoparietal polymicrogyria") OR (MESH:"Polymicrogyria, Bilateral Frontoparietal") OR ("ADGRG1" OR "ADGRG1 syndrome" OR "ADGRG1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Polymicrogyria, Bilateral Frontoparietal

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

"Bilateral frontoparietal polymicrogyria" OR "Polymicrogyria, Bilateral Frontoparietal"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"polymicrogyria"

Query health: suspect — strategies attempted: phrase, mesh; 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
  • Publication count (1131) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T07:15:35.226Z