Features include always present findings: Depletion of mitochondrial DNA in muscle tissue, Cataract, Lactic acidosis, and Decreased activity of mitochondrial complex III and others; and common findings: Premature ovarian insufficiency, Cardiac arrest, Motor delay, and Mild bone density loss (osteopenia) and others. 34 total HPO annotations.

AGK encodes acylglycerol kinase (422 aa). Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. Highest expression in Brain Cerebellar Hemisphere (35.3 TPM) and Brain Cerebellum (32.0 TPM).

Sengers syndrome is associated with mutations in the AGK gene on chromosome 7.

The AGK protein participates in AGK(1-33)InsW-p-BRAF(328-766) fusion and AGK(1-33)InsW-BRAF(328-766) fusion pathways.

AGK is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

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

Biomarker and diagnostic research for Sengers syndrome has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Sengers syndrome.

145 publications have been identified in PubMed for Sengers syndrome. Research spans Basic Science / Preclinical (40%), Case Report / Case Series (13%), and Review / Meta-Analysis (12%).