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cardiomyopathy, familial hypertrophic, 31 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiomyopathy, familial hypertrophic, 31

MONDO:0979573

Overview

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Myopathy, Difficulty climbing stairs, Fatty replacement of skeletal muscle, and Increased endomysial connective tissue and others; and very common findings: Thickened heart muscle (hypertrophic cardiomyopathy). 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	15	Concentric hypertrophic cardiomyopathy, Atrial fibrillation, Left atrial enlargement

Prognosis

Phenotype severity distribution: 22 always present features, 1 very common feature, 2 common features.

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621270

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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cardiomyopathy, familial hypertrophic, 31

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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