Features include very common findings: Optic nerve hypoplasia, Visual impairment, and Septo-optic dysplasia; and common findings: Absent septum pellucidum, Anterior pituitary hypoplasia, Short stature, and Agenesis of corpus callosum and others. 36 total HPO annotations.

HESX1 encodes HESX homeobox 1 (185 aa). Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Highest expression in Testis (9.7 TPM) and Cells EBV-transformed lymphocytes (4.2 TPM).

Septooptic dysplasia is associated with mutations in the HESX1 gene on chromosome 3.

HESX1 is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for HESX1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for septooptic dysplasia has been reported in the published literature.

Phenotype severity distribution: 3 very common features, 12 common features.

Estimated prevalence: Unknown (Unknown prevalence).

1 clinical trial registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 1 PHASE3. Research is primarily industry-sponsored.

64 publications have been identified in PubMed for septooptic dysplasia. Research spans Case Report / Case Series (41%), Epidemiology / Natural History (20%), and Review / Meta-Analysis (11%).