pituitary hormone deficiency, combined, 1
Findings
No curated finding names pituitary hormone deficiency, combined, 1 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 POU1F1 gene.
Definition from the Mondo Disease Ontology (MONDO:0024464), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
16 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.
- Anterior pituitary hypoplasiaHPOHP:0010627
- 1 of 1 reported patient
- Concave nasal ridgeHPOHP:0011120
- 1 of 1 reported patient
- Decreased circulating free T3HPOHP:0032210
- 1 of 1 reported patient
- Decreased circulating free T4 concentrationHPOHP:0033078
- 1 of 1 reported patient
- Decreased thyroid-stimulating hormone levelHPOHP:0031098
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Feeding difficultiesHPO
Show the remaining 4
- Reduced circulating growth hormone concentrationHPOHP:0034323
- 2 of 2 reported patients
- Reduced circulating prolactin concentrationHPOHP:0008202
- 2 of 2 reported patients
- Reduced TSH response to thyrotrophin-releasing hormone stimulation testHPOHP:0033082
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
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.
- POU1F1HGNC:9210
- Definitive · Ambry Genetics · Semidominant · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
4 names
Resolves to: pituitary hormone deficiency, combined, 1
- Also called
- combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1CPHD1pituitary hormone deficiency, combined or isolated, 1POU1F1 combined pituitary hormone deficiencies, genetic form