Corpus callosum agenesis-neuronopathy syndrome
Synonyms: Andermann syndrome · Charlevoix disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, 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 autosomal recessive trait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Corpus callosum agenesis-neuronopathy syndrome | Andermann syndrome · Charlevoix disease |
| fr | Syndrome d'agénesie du corps calleux-neuropathie | Maladie de Charlevoix · Syndrome d'Andermann |
| de | Corpus callosum-Agenesie-Neuropathie-Syndrom | Andermann-Syndrom · Charlevoix-Krankheit |
| es | Síndrome de agenesia de cuerpo calloso-neuropatía | |
| it | Agenesia del corpo calloso - neuropatia | Malattia di Charlevoix · Sindrome di Andermann |
| nl | Agenesie van corpus callosum - neuronopathie-syndroom | Syndroom van Andermann · Ziekte van Charlevoix |
| pt | Síndrome de agenesia do corpo caloso-neuronopatia | Doença de Charlevoix · Síndrome Andermann |
| pl | Agnezja ciała modzelowatego - neuropatia | Choroba Charlevoix · Zespół Andermanna |
| cs | Ageneze corpus callosum s neuronopatií | Charlevoixská choroba · Andermannův syndrom |
| uk | Синдром агенезії-нейронопатії мозолистого тіла | Синдром Андермана · Хвороба Шарлевуа |
| zh | 胼胝体发育不全-神经元病综合征 | Charlevoix病 |
| tr | Korpus kallozum agenezi-nöronopati sendromu | Andermann sendromu · Charlevoix hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218000 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | LD20.Y | NTBT | index | validated |
| MONDO | 0000902 | E | validated | |
| MeSH | C536446 | E | validated | |
| UMLS | C0795950 | E | validated | |
| GARD | 1537 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:207012Spinal muscular atrophy associated with central nervous system anomaly
rare genetic diseases; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:207031OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC12A6 | Disease-causing germline mutation(s) in | Assessed | HGNC:10914 | ENSG00000140199 | 604878 | 15q14 | solute carrier family 12 member 6 | 20301546[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Not yet validated | 20301546[PMID] |
| Point prevalence | 1-5 / 10 000 | 47 / 100 000 | Specific population | Value and class | Validated | 20301546[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002353 | EEG abnormality | |
| HP:0001263 | Global developmental delay | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0002410 | Aqueductal stenosis | |
| Occasional (29-5%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001363 | Craniosynostosis | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000486 | Strabismus | |
| HP:0000262 | Turricephaly | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1496
- This record as JSON: /data/d/1496.json