RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:200

Isolated corpus callosum agenesis

low confidenceDisorder

Publications

50,466

Trials

2

Interventional, condition-specific

Researchers

1,323

Distinct authors in sample

Gene link

CDK5RAP2, PAK3, ZEB1

Definitive

Readiness

4/6

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.”

4/6 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

    50,466 matched papers (36,034 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Camptodactyly; Microcephaly; Preauricular skin tag) 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

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)

23

Associated phenotypes · MONDO:0026419

  • Camptodactyly
  • Microcephaly
  • Preauricular skin tag
  • Joint contracture of the hand
  • Agenesis of corpus callosum

Showing 5 of 23 — 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?

50,466

50,466 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=3967) is 59.

50,466 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).

36,034 in the last 10 years · low confidence

Phrase hits: 11,542 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,323

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 11 September 2026 · last trial check 28 July 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).

low 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.

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

Observational and natural-history studies

4 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

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 2026-07-29

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 Isolated corpus callosum agenesis — 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.

("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 "CDK5RAP2 syndrome" OR "CDK5RAP2-related" OR "PAK3" OR "PAK3 syndrome" OR "PAK3-related" OR "ZEB1" OR "ZEB1 syndrome" OR "ZEB1-related")

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"

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

Query health: ok — strategies attempted: phrase; 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 (50466) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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