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Charcot-Marie-Tooth disease type 1B
Summary
- Synonym
-
- CMT1B
- Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
- Charcot-Marie-Tooth neuropathy type 1B
- HMSN IB
- HMSN1B
- autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B
- hereditary motor and sensory neuropathy IB
- peroneal muscular atrophy
- Definition
- A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).
- Super Class
- Charcot-Marie-Tooth disease type 1 autosomal dominant disease
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
