Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

cardiomyopathy, familial restrictive, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiomyopathy, familial restrictive, 1

MONDO:0007270

Also known as:TNNI3 familial isolated restrictive cardiomyopathycardiomyopathy, familial restrictive, type 1familial isolated restrictive cardiomyopathy caused by mutation in TNNI3

Overview

Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.

GeneticsAutosomal dominant · TNNI3 (chr 19)

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 common findings: Left atrial enlargement and Thickened left heart wall (left ventricular hypertrophy). 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Left atrial enlargement, Restrictive cardiomyopathy, Thickened left heart wall (left ventricular hypertrophy)

Genetic Landscape

TNNI3 function has not been fully characterized.

Cardiomyopathy, familial restrictive, 1 is associated with mutations in the TNNI3 gene on chromosome 19.

Diagnosis

Genetic testing for TNNI3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cardiomyopathy, familial restrictive, 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cardiomyopathy, familial restrictive, 1.

51 publications have been identified in PubMed for cardiomyopathy, familial restrictive, 1. Research spans Case Report / Case Series (29%), Epidemiology / Natural History (20%), and Diagnostic / Biomarker (18%).

Research Type	Count	% of Total
Patient case studies	14	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:115210

GARD

Genetic and Rare Diseases Info Center

GARD:18070

Questions for Your Care Team

→Should I pursue genetic testing for TNNI3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

cardiomyopathy, familial restrictive, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cardiomyopathy, familial restrictive, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications