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dilated cardiomyopathy 1GG - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1GG

MONDO:0013339

Also known as:CMD1GGSDHA familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1Gg

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene.

GeneticsAutosomal recessive · SDHA (chr 5)

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: Decreased activity of mitochondrial complex II, Reduced left ventricular ejection fraction, and Enlarged and weakened heart (dilated cardiomyopathy); and very common findings: Respiratory distress. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Left ventricular noncompaction, Congestive heart failure, Reduced left ventricular ejection fraction

Genetic Landscape

SDHA function has not been fully characterized.

Dilated cardiomyopathy 1GG is associated with mutations in the SDHA gene on chromosome 5.

Diagnosis

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

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 2 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613642

GARD

Genetic and Rare Diseases Info Center

GARD:15684

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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dilated cardiomyopathy 1GG

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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