Charcot-Marie-Tooth disease type 2A
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 1271 | |
| Name: | Charcot-Marie-Tooth disease type 2A | |
| Associated with: | 1 target | |
| 1 immuno-relevant target |  |
|
| Synonyms |
| CMT2A2B |
| Description |
| CMT2A2B is a hereditary motor sensory neuropathy that is characterised by onset of peripheral neuropathy in the first years of life. It is caused by homozygous or compound heterozygous mutation mitofusin 2 (MFN2) gene. Heterozygous MFN2 mutation causes autosomal dominant CMT2A2A which is a less severe disease subtype, with later onset. MFN2 mutations disrupt mitochondrial dynamics. |
| Database Links |
|
Disease Ontology:
DOID:0111557 OMIM: 617087 Orphanet: ORPHA99947 |
Targets
GtoPdb Disease Summaries - Targets
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| mitofusin 2 | |
| Role: | Mutations in MFN2 underlie defective mitochondrial plasticity in CMT2A axonopathy. |
| References: | 1-3 |
Ligands
GtoPdb Disease Summaries - Ligands
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- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Charcot-Marie-Tooth disease type 2A
References
1. Choi BO, Nakhro K, Park HJ, Hyun YS, Lee JH, Kanwal S, Jung SC, Chung KW. (2015) A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients. Clin Genet, 87 (6): 594-8. [PMID:24863639]
2. Xie Y, Li X, Liu L, Hu Z, Huang S, Zhan Y, Zi X, Xia K, Tang B, Zhang R. (2016) MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients. J Peripher Nerv Syst, 21 (1): 38-44. [PMID:26801520]
3. (2018) Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. J Peripher Nerv Syst, 23 (2): 149-150. [PMID:29906321]
