dilated cardiomyopathy 1GG
Findings
No curated finding names dilated cardiomyopathy 1GG yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene.
Definition from the Mondo Disease Ontology (MONDO:0013339), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Third trimester onset
HPO, annotations 2026-09-02
Features
7 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.
- Decreased activity of mitochondrial complex IIHPOHP:0008314
- 3 of 3 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 15 of 15 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 15 of 15 reported patients
- Respiratory distressHPOHP:0002098
- 14 of 15 reported patients
- Congestive heart failureHPOHP:0001635
- 11 of 15 reported patients
- Left ventricular noncompactionHPOHP:0030682
- 7 of 15 reported patients
- Cardiogenic shock
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.
- SDHAHGNC:10680
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1GG
- Also called
- cardiomyopathy, dilated, type 1GgCMD1GGdilated cardiomyopathy type 1GGfamilial isolated dilated cardiomyopathy caused by mutation in SDHASDHA familial isolated dilated cardiomyopathy