Features include always present findings: Mild intellectual disability, Gonadal dysgenesis, Short stature, and Nerve damage affecting sensation and movement (sensorimotor neuropathy) and others; and common findings: Shrinkage of the cerebellum (cerebellar atrophy), Dysarthria, Ataxia, and Intention tremor. 23 total HPO annotations.

HSD17B4 encodes hydroxysteroid 17-beta dehydrogenase 4 (736 aa). Bifunctional enzyme acting on the peroxisomal fatty acid beta-oxidation pathway. Highest expression in Thyroid (203.8 TPM) and Adrenal Gland (129.8 TPM).

Perrault syndrome 1 is associated with mutations in the HSD17B4 gene on chromosome 5.

The HSD17B4 protein participates in HSD17B4 dehydrogenates 3-hydroxyhexacosanoyl-CoA, HSD17B4 hydrates trans-2,3-dehydrohexacosanoyl-CoA, and Hydration of delta2-tetracosaheptaenoyl-CoA to 3-hydroxy tetracosahexaenoyl-CoA pathways.

HSD17B4 is classified as a druggable target (Druggable Genome, Enzyme, and Short Chain Dehydrogenase Reductase categories) with score 0.0.

Genetic testing for HSD17B4 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 4 common features.

No clinical trials have been registered for Perrault syndrome 1.

11 publications have been identified in PubMed for Perrault syndrome 1. Research spans Basic Science / Preclinical (55%), Case Report / Case Series (27%), and Review / Meta-Analysis (18%).