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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y251 | Heparanase | |
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 |
