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Charcot-Marie-Tooth disease axonal type 2H
Summary
- Synonym
-
- AR-CMT2C
- Autosomal recessive axonal CMT4C2
- Axonal Charcot-Marie-Tooth disease with pyramidal involvement
- CMT2H
- Charcot-Marie-Tooth disease type 2H
- autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features
- autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110166
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 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 | |
| 8898 | MTMR2 | myotubularin related protein 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00558 | Phosphoglycerate kinase 1 | |
| P04040 | Catalase | |
| 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 |
