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 1 - 10 of 30 in total
Gene ID Gene Symbol Description Source
31 ACACA acetyl-CoA carboxylase alpha
410 ARSA arylsulfatase A
821 CANX calnexin
847 CAT catalase
960 CD44 CD44 molecule (IN blood group)
1636 ACE angiotensin I converting enzyme
2629 GBA1 glucosylceramidase beta 1
2877 GPX2 glutathione peroxidase 2
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3098 HK1 hexokinase 1
Related Glycoprotein
Displaying entries 21 - 22 of 22 in total
UniProt ID Protein Name Source
Q9Y251 Heparanase
Q9Y286 Sialic acid-binding Ig-like lectin 7

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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