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Charcot-Marie-Tooth disease type 2
Summary
- Synonym
-
- hereditary motor and sensory neuropathy Guadalajara neuronal type
- hereditary motor and sensory neuropathy Okinawa type
- hereditary motor and sensory neuropathy type 2
- Definition
- A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
- Super Class
- Charcot-Marie-Tooth disease
External Links
- Disease Ontology
- DOID:0050539
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 821 | CANX | calnexin | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
| 3098 | HK1 | hexokinase 1 | |
| 3931 | LCAT | lecithin-cholesterol acyltransferase | |
| 4099 | MAG | myelin associated glycoprotein | |
| 4534 | MTM1 | myotubularin 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00558 | Phosphoglycerate kinase 1 | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P04156 | Major prion protein | |
| P04180 | Phosphatidylcholine-sterol acyltransferase | |
| P12821 | Angiotensin-converting enzyme | |
| P15289 | Arylsulfatase A | |
| P16070 | CD44 antigen | |
| P19367 | Hexokinase-1 | |
| P20916 | Myelin-associated glycoprotein | |
| P27824 | Calnexin |
