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Charcot-Marie-Tooth disease type 4G
Summary
- Synonym
-
- CMT4G
- Charcot-Marie-Tooth neuropathy type 4G
- HMSNR
- autosomal recessive Charcot-Marie-Tooth disease type 4G
- hereditary motor and sensory neuropathy Russe type
- Definition
- A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22.
- Super Class
- Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110196
- 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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003470 | Paralysis |
| HP:0008944 | Distal lower limb amyotrophy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003621 | Juvenile onset |
| HP:0001265 | Hyporeflexia |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers |
| HP:0009830 | Peripheral neuropathy |
| HP:0007182 | Peripheral hypomyelination |
| HP:0001618 | Dysphonia |
| HP:0003450 | Axonal regeneration |
