Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A1
Definition
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.
Also known as Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B, Charcot-Marie-Tooth disease type 2A, Charcot-Marie-Tooth disease type 2A1, Charcot-Marie-Tooth disease, type 2A1, CMT2A, CMT2A1, hereditary motor and sensory neuropathy IIA1, HMSN IIA1, HMSN2A1, KIF1B Charcot-Marie-Tooth disease type 2 — per MONDO
Also identified as
- DOID 0110154 per MONDO
- MESH C566138 per MONDO
- NCIT C134952 per MONDO
- NCIT C150609 per MONDO
- OMIM 118210 per MONDO
- Orphanet 99946 per MONDO
- SCTID 717016001 per MONDO
- UMLS C1861678 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 |