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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 |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 821 | CANX | calnexin | |
| 847 | CAT | catalase | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2877 | GPX2 | glutathione peroxidase 2 | |
| 3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
| 3098 | HK1 | hexokinase 1 | |
| 3931 | LCAT | lecithin-cholesterol acyltransferase |
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 |
- 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 |
