ABHD5 encodes abhydrolase domain containing 5, lysophosphatidic acid acyltransferase (349 aa). Coenzyme A-dependent lysophosphatidic acid acyltransferase that catalyzes the transfer of an acyl group on a lysophosphatidic acid. Highest expression in Whole Blood (57.6 TPM) and Skin Not Sun Exposed Suprapubic (39.0 TPM).

Dorfman-Chanarin disease is caused by mutations in the ABHD5 gene on chromosome 3.

ABHD5 is classified as a druggable target (Enzyme category) with score 0.0.

24 pathogenic variants reported in ABHD5 in ClinVar.

Genetic testing for ABHD5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Dorfman-Chanarin disease has been reported in the published literature.

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

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

15 publications have been identified in PubMed for Dorfman-Chanarin disease. Research spans Case Report / Case Series (47%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Recent Publications

• Cai H (2026). [PMID: 41749838](https://pubmed.ncbi.nlm.nih.gov/41749838/). *Cancers*. [Review / Meta-Analysis]

• Angel M (2025). [PMID: 40275410](https://pubmed.ncbi.nlm.nih.gov/40275410/). *Orphanet journal of rare diseases*. [Basic Science / Preclinical]

• Sánchez-Cortés J (2025). [PMID: 40160390](https://pubmed.ncbi.nlm.nih.gov/40160390/). *Advances in laboratory medicine*. [Case Report / Case Series]

• Noman K (2025). [PMID: 41127218](https://pubmed.ncbi.nlm.nih.gov/41127218/). *Molecular genetics and metabolism reports*. [Case Report / Case Series]

• Xiang R (2025). [PMID: 40709761](https://pubmed.ncbi.nlm.nih.gov/40709761/). *Acta dermato-venereologica*. [Case Report / Case Series]

• Ma HW (2025). [PMID: 40240022](https://pubmed.ncbi.nlm.nih.gov/40240022/). *Zhonghua er ke za zhi = Chinese journal of pediatrics*. [Case Report / Case Series]

• Zhang M (2025). [PMID: 41811046](https://pubmed.ncbi.nlm.nih.gov/41811046/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Review / Meta-Analysis]

• Schratter M (2025). [PMID: 40818613](https://pubmed.ncbi.nlm.nih.gov/40818613/). *Journal of lipid research*. [Review / Meta-Analysis]

• Hoenig LJ (2024). [PMID: 38340908](https://pubmed.ncbi.nlm.nih.gov/38340908/). *Clin Dermatol*. [Other]

• Zoullas S (2024). [PMID: 37984424](https://pubmed.ncbi.nlm.nih.gov/37984424/). *American journal of medical genetics. Part A*. [Diagnostic / Biomarker]