Charcot-Marie-Tooth disease type 2Y
Charcot-Marie-Tooth disease type 2Y
Definition
Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.
Also known as autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation, Charcot-Marie-Tooth disease type 2 caused by mutation in VCP, Charcot-Marie-Tooth disease, axonal, type 2y, Charcot-Marie-Tooth disease, type 2Y, CMT2 due to VCP mutation, CMT2Y, VCP Charcot-Marie-Tooth disease type 2 — per MONDO
Also identified as
- DOID 0110168 per MONDO
- NCIT C168974 per MONDO
- OMIM 616687 per MONDO
- Orphanet 435387 per MONDO
- UMLS C5569026 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Musculature | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculature | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Peripheral nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Peripheral nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |