Features include always present findings: Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Shrinkage of the caudate nucleus (brain) (caudate atrophy), and Generalized hypotonia and others; and very common findings: Delayed eruption of teeth, Short stature, Short metacarpal, and Cataract and others. 80 total HPO annotations.

LONP1 encodes lon peptidase 1, mitochondrial (959 aa). ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. Highest expression in Adrenal Gland (207.9 TPM) and Cells EBV-transformed lymphocytes (109.6 TPM).

CODAS syndrome is associated with mutations in the LONP1 gene on chromosome 19.

The LONP1 protein participates in LONP1:substrate protein (mitochondrial matrix), LONP1:substrate protein (mitochondrial inner membrane), and CLPXP:substrate protein (mitochondrial matrix) pathways.

LONP1 is classified as a druggable target (Enzyme and Protease categories) with score 52.2.

Genetic testing for LONP1 is available. Testing is considered confirmatory for diagnosis.

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

Phenotype severity distribution: 10 always present features, 22 very common features, 14 common features.

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

No clinical trials have been registered for CODAS syndrome.

108 publications have been identified in PubMed for CODAS syndrome. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (15%), and Epidemiology / Natural History (7%).