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ORPHA:101070

Bilateral frontoparietal polymicrogyria

high confidenceSubtype of disorder

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

200

66th percentile

Trials

0

Interventional, condition-specific

Researchers

1,377

Distinct authors in sample

Gene link

ADGRG1

Definitive

Readiness

3/6

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.”

3/6 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

    200 matched papers (98 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

200

200 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.

200 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).

98 in the last 10 years · high confidence · 66th percentile (publications denominator)

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 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.

high 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.

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

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 2026-07-26

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"

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" OR "ADGRG1" OR "bilateral polymicrogyria"

Recall-expansion terms: ADGRG1, bilateral polymicrogyria

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, recall-expansion; 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 2026-07-27T07:15:35.226Z