This website provides information on patients with mutations in the SDHA gene, including clinical data, molecular data, management and research options.

The syndrome caused by pathogenic variants in the SDHA gene is a multisystem disorder characterized by mitochondrial complex II deficiency, dilated/hypertrophic cardiomyopathy, neurodegeneration with ataxia and late-onset optic atrophy, Leigh syndrome and infantile Leukoencephalopathy. On the other hand, pathogenic SDHA-variants are associated with hereditary tumours like phaeochromocytoma, paraganglioma or stromal gastrointestinal tumour

Not all individuals with a mutation in the SDHA gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SDHA gene.

Dr. phil. nat. André Schaller, PD, Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Switzerland, andre.schaller@insel.ch