Features include always present findings: Loss of previously acquired skills (developmental regression), Decreased activity of mitochondrial complex III, Global developmental delay, and Decreased activity of mitochondrial complex I and others; and common findings: Dystonia, Low muscle tone (hypotonia), Brain shrinkage (cerebral atrophy), and Bull's eye maculopathy and others. 31 total HPO annotations.

CRLS1 encodes cardiolipin synthase 1 (301 aa). Catalyzes the synthesis of cardiolipin (CL) (diphosphatidylglycerol) by specifically transferring a phosphatidyl group from CDP-diacylglycerol to phosphatidylglycerol (PG). Highest expression in Adipose Visceral Omentum (38.5 TPM) and Adrenal Gland (31.1 TPM).

Combined oxidative phosphorylation deficiency 57 is associated with mutations in the CRLS1 gene on chromosome 20.

The CRLS1 protein participates in PG and CDP-DAG are converted to CL by CRLS1, 2-acyl LPG is acylated to PG by CRLS1 (IM), and 1-acyl LPG is acylated to PG by CRLS1 (IM) pathways.

CRLS1 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for CRLS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for combined oxidative phosphorylation deficiency 57 has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 5 common features.

No clinical trials have been registered for combined oxidative phosphorylation deficiency 57.

30 publications have been identified in PubMed for combined oxidative phosphorylation deficiency 57. Research spans Basic Science / Preclinical (43%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (13%).