pituitary hormone deficiency, combined, 2
Findings
No curated finding names pituitary hormone deficiency, combined, 2 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 PROP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009878), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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 follicle stimulating hormone concentrationHPOHP:0030341
- 6 of 6 reported patients
- Decreased circulating luteinizing hormone levelHPOHP:0030344
- 4 of 4 reported patients
- Decreased thyroid-stimulating hormone levelHPOHP:0031098
- 6 of 6 reported patients
- Reduced circulating growth hormone concentrationHPOHP:0034323
- 6 of 6 reported patients
- Reduced circulating prolactin concentrationHPOHP:0008202
- 4 of 4 reported patients
- Abnormal circulating adrenocorticotropin concentrationHPOHP:0011043
- 0 of 4 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.
- PROP1HGNC:9455
- Definitive · Myriad Women's Health · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: pituitary hormone deficiency, combined, 2
- Also called
- combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1pituitary hormone deficiency, combined, type 2PROP1 combined pituitary hormone deficiencies, genetic form