cardiomyopathy, familial hypertrophic 27
MONDO:0054838Mondo
Findings
No curated finding names cardiomyopathy, familial hypertrophic 27 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
- Congenital onset · Infantile onset · Middle age onset · Juvenile onset · Neonatal onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
80 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.
- Broad foreheadHPOHP:0000337
- 1 of 1 reported patient
- CardiomegalyHPOHP:0001640
- 1 of 1 reported patient
- Cardiomyocyte hypertrophyHPOHP:0031319
- 3 of 3 reported patients
- Chiari malformationHPOHP:0002308
- 1 of 1 reported patient
- Clinodactyly of the 2nd fingerHPOHP:0040022
- 1 of 1 reported patient
- Concentric hypertrophic cardiomyopathyHPOHP:0005157
- 3 of 3 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 1 of 1 reported patient
- Dilated cardiomyopathyHPOHP:0001644
- 6 of 6 reported patients
- Distal arthrogryposisHPOHP:0005684
- 1 of 1 reported patient
- Elbow contractureHPOHP:0034391
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- ExodeviationHPOHP:0020049
- 1 of 1 reported patient
Show the remaining 68
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Full cheeksHPOHP:0000293
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 2 of 2 reported patients
- Hallux valgusHPOHP:0001822
- 1 of 1 reported patient
- HemivertebraeHPOHP:0002937
- 1 of 1 reported patient
- Hepatic cystsHPOHP:0001407
- 1 of 1 reported patient
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.
- ALPK3HGNC:17574
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · G2P · Autosomal dominant · 2022
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · Ambry Genetics · Semidominant · 2022
Where it sits
- A kind of