familial hypertrophic cardiomyopathy
MONDO:0024573Mondo
Findings
No curated finding names familial hypertrophic cardiomyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.
Definition from the Mondo Disease Ontology (MONDO:0024573), read 2026-09-29. CC BY 4.0.
Genes
23 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.
- ANKRD1HGNC:15819
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Disputed Evidence · G2P · Autosomal dominant · 2025
- HGNC:11875HGNC:11875
- Limited · G2P · Autosomal dominant · 2025
- HGNC:15719HGNC:15719
- Limited · G2P · Autosomal dominant · 2025
- KLF10HGNC:11810
- Limited · G2P · Autosomal dominant · 2025
- NEXNHGNC:29557
- Limited · G2P · Autosomal dominant · 2025
- PDLIM3HGNC:20767
- Limited · G2P · Autosomal dominant · 2025
- RBM20HGNC:27424
- Limited · G2P · Autosomal dominant · 2025
- RPS6KB1HGNC:10436
- Limited · G2P · Autosomal dominant · 2025
- RYR2HGNC:10484
- Limited · G2P · Autosomal dominant · 2025
- TTNHGNC:12403
- Limited · G2P · Autosomal dominant · 2025
- CACNB2HGNC:1402
- Disputed Evidence · G2P · Autosomal dominant · 2025
- CALR3HGNC:20407
- Disputed Evidence · G2P · Autosomal dominant · 2025
- CASQ2HGNC:1513
- Disputed Evidence · G2P · Autosomal dominant · 2025
- DSPHGNC:3052
- Disputed Evidence · G2P · Autosomal dominant · 2025
- KCNQ1HGNC:6294
- Disputed Evidence · G2P · Autosomal dominant · 2025
- MYH6HGNC:7576
- Disputed Evidence · G2P · Autosomal dominant · 2025
- MYLK2HGNC:16243
- Disputed Evidence · G2P · Autosomal dominant · 2025
- MYOM1HGNC:7613
- Disputed Evidence · G2P · Autosomal dominant · 2025
- MYOZ2HGNC:1330
- Disputed Evidence · G2P · Autosomal dominant · 2025
- MYPNHGNC:23246
- Disputed Evidence · G2P · Autosomal dominant · 2025
- TCAPHGNC:11610
- Disputed Evidence · G2P · Autosomal dominant · 2025
- TRIM63HGNC:16007
- Disputed Evidence · G2P · Autosomal dominant · 2025
- VCLHGNC:12665
- Disputed Evidence · G2P · Autosomal dominant · 2025
Where it sits
- Narrower terms (40)
- 46,XY complete gonadal dysgenesis
- Beckwith-Wiedemann syndrome
- cardiomyopathy-hypotonia-lactic acidosis syndrome
- cardiomyopathy, familial hypertrophic 27
- cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction
- cardiomyopathy, familial hypertrophic, 28
- cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
- cardiomyopathy, familial hypertrophic, 30, atrial
- cardiomyopathy, familial hypertrophic, 31
- cardiomyopathy, familial restrictive, 5
- dilated cardiomyopathy 1C
- dilated cardiomyopathy 1KK
- hypertrophic cardiomyopathy 1
- hypertrophic cardiomyopathy 10
- hypertrophic cardiomyopathy 11
- hypertrophic cardiomyopathy 12
- hypertrophic cardiomyopathy 13
Other names
4 names
Resolves to: familial hypertrophic cardiomyopathy
- Also called
- cardiomyopathy, familial hypertrophicfamilila or idiopathic hypertrophic obstructive cardiomyopathyhereditary hypertrophic cardiomyopathyhypertrophic familial cardiomyopathy