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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 |
|---|---|---|---|
| 8898 | MTMR2 | myotubularin related protein 2 | |
| 9517 | SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10558 | SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | |
| 10855 | HPSE | heparanase | |
| 23175 | LPIN1 | lipin 1 | |
| 23600 | AMACR | alpha-methylacyl-CoA racemase | |
| 27036 | SIGLEC7 | sialic acid binding Ig like lectin 7 | |
| 51196 | PLCE1 | phospholipase C epsilon 1 | |
| 84649 | DGAT2 | diacylglycerol O-acyltransferase 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 |
- 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 |
