Features include always present findings: Short stature, Ectopic posterior pituitary, Reduced circulating growth hormone concentration, and Decreased thyroid-stimulating hormone level and others; and common findings: Seizure, Feeding difficulties, Decreased circulating luteinizing hormone level, and Decreased circulating follicle stimulating hormone concentration and others.

OTX2 encodes orthodenticle homeobox 2 (289 aa). Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3' Highest expression in Brain Cerebellar Hemisphere (24.4 TPM) and Brain Cerebellum (23.8 TPM).

Pituitary hormone deficiency, combined, 6 is associated with mutations in the OTX2 gene on chromosome 14.

The OTX2 protein participates in Expression of OTX2 in anterior neural plate, Expression of GBX2 in posterior neural plate, and Expression of ZIC2 in anterior neural plate pathways.

OTX2 is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for OTX2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pituitary hormone deficiency, combined, 6 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 7 common features.

No clinical trials have been registered for pituitary hormone deficiency, combined, 6.

50 publications have been identified in PubMed for pituitary hormone deficiency, combined, 6. Research spans Epidemiology / Natural History (26%), Case Report / Case Series (18%), and Clinical Trial Publication (18%).