Charcot-Marie-Tooth disease type 2B1
Information
- Disease name
- Charcot-Marie-Tooth disease type 2B1
- Disease ID
- DOID:0110156
- Description
- "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11799477]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05902351 | Recruiting | Natural History Study for Charcot Marie Tooth Disease | November 1, 2013 | December 31, 2029 |
- Disase is a (Disease Ontology)
- DOID:0050539
- Cross Reference ID (Disease Ontology)
- ICD10CM:G60.0
- Cross Reference ID (Disease Ontology)
- MESH:C537990
- Cross Reference ID (Disease Ontology)
- MIM:605588
- Cross Reference ID (Disease Ontology)
- ORDO:98856
- Exact Synonym (Disease Ontology)
- autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
- Exact Synonym (Disease Ontology)
- autosomal recessive axonal CMT4C1
- Exact Synonym (Disease Ontology)
- autosomal recessive Charcot-Marie-Tooth disease type 2B1
- Exact Synonym (Disease Ontology)
- Charcot-Marie-Tooth disease neuronal type 2B1
- Exact Synonym (Disease Ontology)
- Charcot-Marie-Tooth neuropathy type 2B1
- Exact Synonym (Disease Ontology)
- CMT2B1
- OrphaNumber from OrphaNet (Orphanet)
- 98856