hypertrophic cardiomyopathy
MONDO:0005045Mondo
Findings
No curated finding names hypertrophic cardiomyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
Definition from the Mondo Disease Ontology (MONDO:0005045), read 2026-09-29. CC BY 4.0.
Genes
42 genes
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.
- ACTC1HGNC:143
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- ALPK3HGNC:17574
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · ClinGen · Autosomal dominant · 2025
- CSRP3HGNC:2472
- Definitive · ClinGen · Semidominant · 2023
- FHOD3HGNC:26178
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2025
- Moderate · Illumina · Autosomal dominant · 2020
- MYBPC3HGNC:7551
- Definitive · ClinGen · Autosomal dominant · 2021
- MYH7HGNC:7577
- Definitive · ClinGen · Autosomal dominant · 2023
- MYL2HGNC:7583
- Definitive · ClinGen · Autosomal dominant · 2026
- MYL3HGNC:7584
- Definitive · ClinGen · Autosomal dominant · 2021
- TNNC1HGNC:11943
- Definitive · ClinGen · Autosomal dominant · 2023
- TNNI3HGNC:11947
- Definitive · ClinGen · Autosomal dominant · 2017
- TPM1HGNC:12010
- Definitive · ClinGen · Autosomal dominant · 2023
- MYPNHGNC:23246
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
- TRIM63HGNC:16007
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · ClinGen · Autosomal recessive · 2024
- Disputed Evidence · ClinGen · Autosomal dominant · 2022
- HGNC:7488HGNC:7488
- Moderate · ClinGen · Mitochondrial · 2023
- JPH2HGNC:14202
- Moderate · ClinGen · Autosomal dominant · 2022
- KLHL24HGNC:25947
- Moderate · ClinGen · Autosomal recessive · 2023
- NEBLHGNC:16932
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- RPS6KB1HGNC:10436
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · ClinGen · Autosomal dominant · 2023
- HGNC:11875HGNC:11875
- Limited · ClinGen · Autosomal dominant · 2023
- HGNC:15719HGNC:15719
- Limited · ClinGen · Autosomal dominant · 2022
- KLF10HGNC:11810
- Limited · ClinGen · Autosomal dominant · 2022
- Limited · PanelApp Australia · Autosomal dominant · 2025
- MYOM1HGNC:7613
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
- NEXNHGNC:29557
- Limited · ClinGen · Autosomal dominant · 2023
- PDLIM3HGNC:20767
- Limited · ClinGen · Autosomal dominant · 2023
- Limited · PanelApp Australia · Autosomal dominant · 2025
- RBM20HGNC:27424
- Limited · ClinGen · Autosomal dominant · 2023
- RYR2HGNC:10484
- Limited · ClinGen · Autosomal dominant · 2022
- SMYD1HGNC:20986
- Limited · Ambry Genetics · Autosomal dominant · 2020
- TTLHGNC:21586
- Limited · PanelApp Australia · Autosomal dominant · 2025
- TTNHGNC:12403
- Limited · ClinGen · Autosomal dominant · 2025
- ANKRD1HGNC:15819
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
- CALR3HGNC:20407
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
- CASQ2HGNC:1513
- Disputed Evidence · ClinGen · Autosomal dominant · 2022
- DSPHGNC:3052
- Disputed Evidence · ClinGen · Autosomal dominant · 2022
- KCNQ1HGNC:6294
- Disputed Evidence · ClinGen · Autosomal dominant · 2022
- LDB3HGNC:15710
- Disputed Evidence · ClinGen · Autosomal dominant · 2026
- MYH6HGNC:7576
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
- MYLK2HGNC:16243
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
- MYOZ2HGNC:1330
- Disputed Evidence · ClinGen · Autosomal dominant · 2022
- TCAPHGNC:11610
- Disputed Evidence · ClinGen · Autosomal dominant · 2022
- VCLHGNC:12665
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
- SRIHGNC:11292
- Refuted Evidence · Ambry Genetics · Autosomal dominant · 2018
- TNNC2HGNC:11944
- No Known Disease Relationship · ClinGen · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
2 names
Resolves to: hypertrophic cardiomyopathy
- Also called
- hypertrophic subaortic stenosisobstructive hypertrophic cardiomyopathy