ORPHA:1496
Corpus callosum agenesis-neuronopathy syndrome
Also known as: Andermann syndrome · Charlevoix disease
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
191
65.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,104
Distinct authors in sample
Gene link
SLC12A6
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare neurodegenerative disorder characterized by severe sensorimotor beginning in infancy with resulting , areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an trait.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0000902
- MeSH:C536446
- OMIM:218000
- UMLS:C0795950
Additional Mondo synonyms (4)
agenesis of the corpus callosum with peripheral neuropathy · corpus callosum agenesis-neuronopathy syndrome · hereditary motor and sensory neuropathy with agenesis of the corpus callosum · peripheral neuropathy associated with agenesis of the corpus callosum
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SLC12A6
- LiteraturePresent
191 matched papers (92 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (SLC12A6).
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?
191
191 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.
191 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).
92 in the last 10 years · high confidence · 65.1th percentile (publications denominator)
Phrase hits: 191 · MeSH hits: 0
Who's working on it?
1,104
Distinct author names in 191 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.
- 01Delpire E16 papers · 2023
Department of Anesthesiology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA. eric.delpire@vanderbilt.edu carsten.bonnemann@nih.gov.
Papers in Europe PMC - 02Rouleau GA13 papers · 2017
Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada.
Papers in Europe PMC - 03Kahle KT8 papers · 2019
Department of Neurosurgery, Harvard Medical School, Boston, MA 02114, USA. kkahle@genetics.med.harvard.edu
Papers in Europe PMC - 04Bouchard JP7 papers · 2017
Université Laval, Québec, Canada; CHU de Québec, Hôpital de l'Enfant-Jésus, Département des sciences neurologiques, Québec, Québec, Canada.
Papers in Europe PMC - 05Mathieu J7 papers · 2025
Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, Hôpital de Chicoutimi, Chicoutimi, Québec, Canada.
Papers in Europe PMC - 06Gamba G6 papers · 2022
Department of Nephrology and Mineral Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Papers in Europe PMC - 07Dupré N5 papers · 2012
Centre for Research in Neurosciences and the Department of Neurology and Neurosurgery, McGill University, Montreal.
Papers in Europe PMC - 08Salin-Cantegrel A5 papers · 2013
Centre of Excellence in Neuroscience of University of Montreal, Montréal, Québec, Canada.
Papers in Europe PMC - 09Shekarabi M5 papers · 2013
Centre of Excellence in Neuromics, CHUM Research Center and Department of Medicine, University of Montreal, Notre-Dame Hospital, 1560 Sherbrooke East, De-Seve Pavillion, room Y-3616-2, Montréal, QC, H2L 4M1, Canada.
Papers in Europe PMC - 10Zhang J5 papers · 2023
Institute of Biomedical and Clinical Sciences, Medical School, College of Medicine and Health, University of Exeter, Hatherly Laboratories, Exeter, EX4 4PS, UK.
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).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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.
"Corpus callosum agenesis-neuronopathy syndrome" OR "Andermann syndrome" OR "Charlevoix disease" OR "agenesis of the corpus callosum with peripheral neuropathy" OR "agenesis of corpus callosum with peripheral neuropathy" OR "hereditary motor and sensory neuropathy with agenesis of the corpus callosum" OR "hereditary motor and sensory neuropathy with agenesis of corpus callosum" OR "peripheral neuropathy associated with agenesis of the corpus callosum" OR "peripheral neuropathy associated with agenesis of corpus callosum"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Corpus callosum agenesis-neuronopathy syndrome" OR "Andermann syndrome" OR "Charlevoix disease" OR "agenesis of the corpus callosum with peripheral neuropathy" OR "agenesis of corpus callosum with peripheral neuropathy" OR "hereditary motor and sensory neuropathy with agenesis of the corpus callosum" OR "hereditary motor and sensory neuropathy with agenesis of corpus callosum" OR "peripheral neuropathy associated with agenesis of the corpus callosum" OR "peripheral neuropathy associated with agenesis of corpus callosum" OR "SLC12A6"
Recall-expansion terms: SLC12A6
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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 2026-07-26T17:33:57.393Z