Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment); and very common findings: Demyelinating peripheral neuropathy. 22 total HPO annotations.

ABHD12 encodes abhydrolase domain containing 12, lysophospholipase (398 aa). Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes. Highest expression in Thyroid (109.9 TPM) and Brain Spinal cord cervical c-1 (105.9 TPM).

PHARC syndrome is caused by mutations in the ABHD12 gene on chromosome 20.

The ABHD12 protein participates in ABHD6,12 hydrolyse 3AG pathway.

ABHD12 is classified as a druggable target (Druggable Genome, Enzyme, and Phospholipase categories) with score 0.0.

30 pathogenic variants reported in ABHD12 in ClinVar.

Genetic testing for ABHD12 is available. Testing is considered confirmatory for diagnosis.

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

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

No clinical trials have been registered for PHARC syndrome.

11 publications have been identified in PubMed for PHARC syndrome. Research spans Review / Meta-Analysis (36%), Case Report / Case Series (36%), and Other (18%).