pituitary hormone deficiency, combined, 6
Findings
No curated finding names pituitary hormone deficiency, combined, 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013518), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating ACTH concentrationHPOHP:0002920
- 2 of 2 reported patients
- Decreased thyroid-stimulating hormone levelHPOHP:0031098
- 2 of 2 reported patients
- Ectopic posterior pituitaryHPOHP:0011755
- 2 of 2 reported patients
- Neonatal hypoglycemiaHPOHP:0001998
- 2 of 2 reported patients
- Reduced circulating growth hormone concentrationHPOHP:0034323
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Decreased circulating follicle stimulating hormone concentration
Show the remaining 1
- SeizureHPOHP:0001250
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- OTX2HGNC:8522
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
3 names
Resolves to: pituitary hormone deficiency, combined, 6
- Also called
- combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2OTX2 combined pituitary hormone deficiencies, genetic formpituitary hormone deficiency, combined, type 6