Agenesis of the corpus callosum with peripheral neuropathy

Preferred Label : Agenesis of the corpus callosum with peripheral neuropathy;

Symbol : ACCPN;

CISMeF acronym : ACCPN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charlevoix disease; Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum; Corpus callosum, agenesis of, with neuronopathy; Andermann syndrome;

Description : Andermann syndrome is an autosomal recessive motor and sensory neuropathy with agenesis of the corpus callosum associated with developmental and neurodegenerative defects and dysmorphic features. It has a high prevalence in the French Canadian population in the Charlevoix and Saguenay-Lac-Saint-Jean region of Quebec (Uyanik et al., 2006). Dupre et al. (2003) provided a comprehensive review of the disorder. Dobyns (1996) reviewed the many genetic causes of agenesis of the corpus callosum.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 12 (sodium/chloride transporter), member 6 gene (SLC12A6, 604878.0001);

Laboratory abnormalities : Increased CSF protein;

Prefixed ID : #218000;

Details

Origin ID

218000;

UMLS CUI

C0795950;

Currated CISMeF NLP mapping
- Agenesis of corpus callosum with peripheral neuropathy (disorder) [SNOMED CT concept]
- Corpus callosum agenesis - neuronopathy [ICD-11 More detail]
- Corpus callosum agenesis neuronopathy [MeSH concept]
- Corpus callosum agenesis-neuronopathy syndrome [ORDO Disease]
- agenesis of the corpus callosum with peripheral neuropathy [DO Concept]
- corpus callosum agenesis neuronopathy [MeSH Supplementary Concept]
DO Cross reference
- agenesis of the corpus callosum with peripheral neuropathy [DO Concept]
Genes related to phenotype
- Solute carrier family 12 (potassium/chloride transporter), member 6 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Agenesis of corpus callosum [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration/regeneration [HPO term]
- Brachycephaly [HPO term]
- Broad nasal root [HPO term]
- Decreased motor and sensory nerve conduction velocities [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased sensory nerve conduction velocity [HPO term]
- EMG: chronic denervation signs [HPO term]
- Facial asymmetry [HPO term]
- Facial diplegia [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Increased CSF protein [HPO term]
- Intellectual disability [HPO term]
- Limb muscle weakness [HPO term]
- Limb tremor [HPO term]
- Long face [HPO term]
- Long fingers [HPO term]
- Long tapered fingers [HPO term]
- Low anterior hairline [HPO term]
- Macrotia [HPO term]
- Motor delay [HPO term]
- Motor polyneuropathy [HPO term]
- Narrow forehead [HPO term]
- Neonatal hypotonia [HPO term]
- Onion bulb formation [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Peripheral motor neuropathy, severe [HPO term]
- Peripheral sensory neuropathy, severe [HPO term]
- Polyneuropathy [HPO term]
- Progressive [HPO term]
- Psychosis [HPO term]
- Ptosis [HPO term]
- Respiratory tract infection [HPO term]
- Restrictive deficit on pulmonary function testing [HPO term]
- Restrictive ventilatory defect [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sensory neuropathy [HPO term]
- Short nose [HPO term]
- Skeletal muscle atrophy [HPO term]
- Tapered finger [HPO term]
- Tremor [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Corpus callosum agenesis-neuronopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Agenesis of corpus callosum with peripheral neuropathy (disorder) [SNOMED CT concept]
- Corpus callosum agenesis neuronopathy [MeSH concept]
- Corpus callosum agenesis-neuronopathy syndrome [ORDO Disease]
- agenesis of the corpus callosum with peripheral neuropathy [DO Concept]
- corpus callosum agenesis neuronopathy [MeSH Supplementary Concept]
- hereditary motor and sensory neuropathy with agenesis of the corpus callosum [DO Concept]

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