Features include always present findings: Anhidrosis, Dry, scaly skin (ichthyosis), and Congenital nonbullous ichthyosiform erythroderma; and common findings: Heat intolerance and Palmar hyperlinearity. 11 total HPO annotations.

ALOXE3 encodes arachidonate epidermal lipoxygenase 3 (711 aa). Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced lipoxygenases activity. Highest expression in Skin Sun Exposed Lower leg (96.0 TPM) and Skin Not Sun Exposed Suprapubic (71.2 TPM).

Autosomal recessive congenital ichthyosis 3 is associated with mutations in the ALOXE3 gene on chromosome 17.

The ALOXE3 protein participates in ALOXE3 isomerises 12R-HpETE to HXA3 pathway.

ALOXE3 is classified as a druggable target (Druggable Genome, Enzyme, and Nuclear Hormone Receptor categories) with score 0.0.

Genetic testing for ALOXE3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive congenital ichthyosis 3 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 2 common features.

No clinical trials have been registered for autosomal recessive congenital ichthyosis 3.

30 publications have been identified in PubMed for autosomal recessive congenital ichthyosis 3. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (10%).