isolated growth hormone deficiency type II
MONDO:0008250Mondo
Findings
No curated finding names isolated growth hormone deficiency type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
5 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
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- 1 of 1 reported patient
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Severe short statureHPOHP:0003510
- 1 of 1 reported patient
Genes
2 genes
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.
- GH1HGNC:4261
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- POU1F1HGNC:9210
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: isolated growth hormone deficiency type II
- Also called
- congenital IGHD type IIcongenital isolated GH deficiency type IIcongenital isolated growth hormone deficiency type IIgrowth hormone deficiency, isolated, type II