cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
MONDO:0859372Mondo
Findings
No curated finding names cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
11 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.
- Cardiomyocyte hypertrophyHPOHP:0031319
- 2 of 2 reported patients
- Increased myocardial glycogen contentHPOHP:0034532
- 2 of 2 reported patients
- DyspneaHPOHP:0002094
- 5 of 7 reported patients
- PalpitationsHPOHP:0001962
- 5 of 7 reported patients
- Reduced left ventricular endsystolic diameterHPOHP:0034386
- 5 of 7 reported patients
- Systolic anterior motion of the mitral valveHPOHP:0031656
- 4 of 8 reported patients
- Asymmetric septal hypertrophyHPOHP:0001670
- 3 of 8 reported patients
- Left ventricular outflow tract obstructionHPOHP:0032092
- 3 of 8 reported patients
- Mitral regurgitationHPOHP:0001653
- 3 of 8 reported patients
- Sudden cardiac deathHPOHP:0001645
- 3 of 11 reported patients
- Muscle weaknessHPOHP:0001324
- 0 of 8 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.
- KLHL24HGNC:25947
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of