pituitary hormone deficiency, combined or isolated, 8
MONDO:0957208Mondo
Findings
No curated finding names pituitary hormone deficiency, combined or isolated, 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
15 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 insulin-like growth factor 1 concentrationHPOHP:0030353
- 5 of 5 reported patients
- Reduced circulating growth hormone concentrationHPOHP:0034323
- 5 of 5 reported patients
- Short statureHPOHP:0004322
- 5 of 5 reported patients
- Anterior pituitary hypoplasiaHPOHP:0010627
- 4 of 5 reported patients
- Interrupted pituitary stalkHPOHP:0034978
- 3 of 5 reported patients
- StrabismusHPOHP:0000486
- 3 of 5 reported patients
- Absent pituitary stalkHPOHP:0034976
- 2 of 5 reported patients
- Decreased thyroid-stimulating hormone levelHPOHP:0031098
- 2 of 5 reported patients
- HypermetropiaHPOHP:0000540
- 2 of 5 reported patients
- Anterior pituitary agenesisHPOHP:0010626
- 1 of 5 reported patients
- Decreased circulating ACTH concentrationHPOHP:0002920
- 1 of 5 reported patients
- Decreased circulating follicle stimulating hormone concentrationHPOHP:0030341
- 1 of 5 reported patients
Show the remaining 3
- Decreased circulating luteinizing hormone levelHPOHP:0030344
- 1 of 5 reported patients
- Ectopic posterior pituitaryHPOHP:0011755
- 1 of 5 reported patients
- PtosisHPOHP:0000508
- 1 of 5 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.
- ROBO1HGNC:10249
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Semidominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023