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GENATLAS PHENOTYPE
last update : 09-06-2021
Symbol ACCPN
Location 15q14
Name corpus callosum, agenesis of, with neuronopathy
Other name(s)
  • peripheral neuropathy, with/without agenesis of the corpus callosum
  • Andermann syndrome
  • Charlevoix disease
    • Corresponding gene SLC12A6
    Main clinical features
  • severe mental retardation, spastic quadriplegia, microcephaly, and infantile spasms, agenesis of the corpus callosum with a characteristic dysmorphic facies
  • CT scan showed absence of the corpus callosum, subcortical atrophy and gray substance heterotopy at the level of the ventricles
    • Genetic determination autosomal recessive
    Related entries . also milder clinical presentation with early-onset neuropathy (PMID: 31439721)
    Function/system disorder congenital malformation
    neurology
    Type disease
    Gene product
    Name solute carrier family 12 member 6
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein  
    Remark(s) physical and functional association between the co-transporter and CKB is, therefore, the first protein–protein interaction identified to be potentially involved in the pathophysiology of ACCPN