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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 |
|---|---|---|---|
| 5230 | PGK1 | phosphoglycerate kinase 1 | |
| 5236 | PGM1 | phosphoglucomutase 1 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5631 | PRPS1 | phosphoribosyl pyrophosphate synthetase 1 | |
| 8898 | MTMR2 | myotubularin related protein 2 | |
| 9517 | SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10558 | SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | |
| 23600 | AMACR | alpha-methylacyl-CoA racemase | |
| 27036 | SIGLEC7 | sialic acid binding Ig like lectin 7 |
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 |
