agenesis of the corpus callosum with peripheral neuropathy

Summary
Synonym
  • Andermann syndrome
  • Charlevoix disease
  • corpus callosum agenesis-neuronopathy syndrome
Definition
A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14.
Super Class
autosomal recessive disease neurodegenerative disease
External Links
Disease Ontology
DOID:0090003
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 30 in total
Gene ID Gene Symbol Description Source
3931 LCAT lecithin-cholesterol acyltransferase
4051 CYP4F3 cytochrome P450 family 4 subfamily F member 3
4099 MAG myelin associated glycoprotein
4534 MTM1 myotubularin 1
5230 PGK1 phosphoglycerate kinase 1
5236 PGM1 phosphoglucomutase 1
5332 PLCB4 phospholipase C beta 4
5621 PRNP prion protein (Kanno blood group)
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1
5743 PTGS2 prostaglandin-endoperoxide synthase 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024