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ORPHA:200

Isolated corpus callosum agenesis

low confidenceDisorder

Publications

11,542

Trials

2

Interventional, condition-specific

Researchers

1,324

Distinct authors in sample

Gene link

CDK5RAP2, PAK3, ZEB1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare non-syndromic cerebral characterized by partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with , visual impairment, delayed speech development, , feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

agenesis of corpus callosum · corpus callosum agenesis · corpus callosum, agenesis of

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.

  1. Gene identifiedPresent

    Definitive — CDK5RAP2, PAK3, ZEB1

  2. LiteraturePresent

    11,542 matched papers (5,873 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 trialPresent

    2 matched on ClinicalTrials.gov

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 (CDK5RAP2, PAK3, ZEB1).

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?

11,542

11,542 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

11,542 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).

5,873 in the last 10 years · low confidence

Phrase hits: 11,542 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,324

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
    Kasprian G5 papers · 2026

    Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, 1090 Vienna, Austria.

    Papers in Europe PMC
  2. 02
    Romaniello R5 papers · 2025

    Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Via Mondino 2, 27100, Pavia, Italy. Romina.romaniello@mondino.it.

    Papers in Europe PMC
  3. 03
    Li J4 papers · 2026

    Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.

    Papers in Europe PMC
  4. 04
    Pasca L4 papers · 2025

    Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

    Papers in Europe PMC
  5. 05
    Paul LK4 papers · 2026

    Travis Research Institute, Fuller School of Psychology & Marriage and Family Therapy, Pasadena, CA, USA.

    Papers in Europe PMC
  6. 06
    Wang X4 papers · 2026

    Department of Radiology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Maternal and Child Health Care Hospital, Beijing, China.

    Papers in Europe PMC
  7. 07
    Agarwal S3 papers · 2026

    Division of Neurology & Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  8. 08
    Borgatti R3 papers · 2025

    Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

    Papers in Europe PMC
  9. 09
    Brown WS3 papers · 2026

    Travis Research Institute, Fuller School of Psychology & Marriage and Family Therapy, Pasadena, CA, USA.

    Papers in Europe PMC
  10. 10
    De Giorgis V3 papers · 2026

    Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy, Member of the ERN EpiCARE. Electronic address: valentina.degiorgis@mondino.it.

    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; none in our sample are currently recruiting.

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).

low 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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

6 observational studies match 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.

Open the complete matched search on ClinicalTrials.gov

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.

"Isolated corpus callosum agenesis" OR "agenesis of corpus callosum" OR "agenesis of the corpus callosum" OR "corpus callosum agenesis" OR "corpus callosum, agenesis of"

Run this search on Europe PMC

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

"Isolated corpus callosum agenesis" OR "agenesis of corpus callosum" OR "agenesis of the corpus callosum" OR "corpus callosum agenesis" OR "corpus callosum, agenesis of" OR "CDK5RAP2" OR "PAK3" OR "ZEB1"

Recall-expansion terms: CDK5RAP2, PAK3, ZEB1

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 · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 (11542) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:52:54.392Z