Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Charcot-Marie-Tooth disease type 1A
Summary
- Synonym
-
- CMT1A
- Charcot-Marie-Tooth neuropathy type 1A
- HMSN1A
- autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
- hereditary motor and sensory neuropathy 1A
- microduplication 17p12
- Definition
- A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).
- Super Class
- Charcot-Marie-Tooth disease type 1 autosomal dominant disease
Related Genes
