hypertrophic cardiomyopathy 4
Findings
No curated finding names hypertrophic cardiomyopathy 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.
Definition from the Mondo Disease Ontology (MONDO:0007268), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Adult onset · Juvenile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CardiomegalyHPOHP:0001640
- 2 of 2 reported patients
- Congestive heart failureHPOHP:0001635
- 2 of 2 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 68 of 117 reported patients · Middle age onset
- 2 of 2 reported patients
- Myofiber disarrayHPOHP:0031318
- 2 of 2 reported patients
- Respiratory distressHPOHP:0002098
- 2 of 2 reported patients
- Ventricular hypertrophyHPOHP:0001714
- 68 of 117 reported patients · Middle age onset
Show the remaining 4
- Ventricular septal hypertrophyHPOHP:0005144
- 1 of 2 reported patients
- Sudden cardiac deathHPOHP:0001645
- 35 of 293 reported patients
- StrokeHPOHP:0001297
- 1 of 12 reported patients
- SyncopeHPOHP:0001279
- 1 of 12 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MYBPC3HGNC:7551
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
8 names
Resolves to: hypertrophic cardiomyopathy 4
- Also called
- cardiomyopathy, familial hypertrophic, 4cardiomyopathy, familial hypertrophic, type 4cardiomyopathy, hypertrophic, 4CMH4familial hypertrophic cardiomyopathy type 4hypertrophic cardiomyopathy caused by mutation in MYBPC3hypertrophic cardiomyopathy type 4MYBPC3 hypertrophic cardiomyopathy