Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment) and Elevated circulating follicle stimulating hormone level; and very common findings: Elevated circulating luteinizing hormone level. 10 total HPO annotations.

CLPP encodes caseinolytic mitochondrial matrix peptidase proteolytic subunit (277 aa). Protease component of the ClpXP complex that cleaves peptides and various proteins in an ATP-dependent process. Has low peptidase activity in the absence of CLPX. Highest expression in Cells EBV-transformed lymphocytes (159.3 TPM) and Cells Cultured fibroblasts (122.1 TPM).

Perrault syndrome 3 is caused by mutations in the CLPP gene on chromosome 19.

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

CLPP is classified as a druggable target (Enzyme and Protease categories) with score 0.0.

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

Phenotype severity distribution: 2 always present features, 1 very common feature, 5 common features.

No clinical trials have been registered for Perrault syndrome 3.

10 publications have been identified in PubMed for Perrault syndrome 3. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (40%), and Case Report / Case Series (20%).