Hypertrophic cardiomyopathy 4
Hypertrophic cardiomyopathy 4
Definition
An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.
Also known as cardiomyopathy, familial hypertrophic, 4, cardiomyopathy, familial hypertrophic, type 4, cardiomyopathy, hypertrophic, 4, CMH4, familial hypertrophic cardiomyopathy type 4, hypertrophic cardiomyopathy 4, hypertrophic cardiomyopathy caused by mutation in MYBPC3, hypertrophic cardiomyopathy type 4, MYBPC3 hypertrophic cardiomyopathy — per MONDO
Also identified as
- DOID 0110310 per MONDO
- MESH C566169 per MONDO
- NCIT C133725 per MONDO
- OMIM 115197 per MONDO
- UMLS C1861862 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Cardiovascular system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Cardiovascular system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Heart | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Heart | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| 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 |
| Myocardium | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Respiratory system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |