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Charcot-Marie-Tooth disease type 4B1
Summary
- Synonym
-
- CMT4B1
- Charcot-Marie-Tooth neuropathy type 4B1
- autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
- Definition
- A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).
- Super Class
- Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110191
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
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 | |
| 8776 | MTMR1 | myotubularin related protein 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y251 | Heparanase | |
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003693 | Distal amyotrophy |
| HP:0002460 | Distal muscle weakness |
| HP:0007208 | Irregular myelin loops |
| HP:0001270 | Motor delay |
| HP:0004336 | Myelin outfoldings |
| HP:0002936 | Distal sensory impairment |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0006958 | Abnormal auditory evoked potentials |
| HP:0001762 | Talipes equinovarus |
