Details of Disease

General Information of Disease (ID: DISMOV7L)

• Disease Name: Agenesis of the corpus callosum with peripheral neuropathy
• Synonyms: polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum; corpus callosum, agenesis of, with neuronopathy; corpus callosum agenesis neuronopathy; agenesis of corpus callosum with polyneuropathy; agenesis of corpus callosum with peripheral neuropathy; agenesis of corpus callosum with neuronopathy; HMSN/ACC; ACCPN; peripheral neuropathy associated with agenesis of the corpus callosum; hereditary motor and sensory neuropathy with agenesis of the corpus callosum; corpus callosum agenesis-neuronopathy syndrome; agenesis of the corpus callosum with peripheral neuropathy; Charlevoix disease; Andermann syndrome
• Definition: Corpus callosum agenesis-neuropathy is a 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.
• Disease Hierarchy:
  DISPN7D2: Inherited neurodegenerative disorder
  DISMOV7L: Agenesis of the corpus callosum with peripheral neuropathy
• Disease Identifiers:
  MONDO ID: MONDO_0000902
  MESH ID: C536446
  UMLS CUI: C0795950
  OMIM ID: 218000
  MedGen ID: 162893
  Orphanet ID: 1496
  SNOMED CT ID: 702439002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC12A6	TT8DFHE	Disputed	Genetic Variation	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC12A6	DTMA4FJ	Definitive	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BMS1	OTEGQ8ZO	moderate	Genetic Variation	[3]
SLC12A6	OT9CS413	Definitive	Autosomal recessive	[2]

References

• [1] First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.Am J Med Genet A. 2019 Jun;179(6):1020-1024. doi: 10.1002/ajmg.a.61110. Epub 2019 Mar 13.
• [2] The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet. 2002 Nov;32(3):384-92. doi: 10.1038/ng1002. Epub 2002 Oct 7.
• [3] HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.Hum Mol Genet. 2008 Sep 1;17(17):2703-11. doi: 10.1093/hmg/ddn172. Epub 2008 Jun 19.