growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
MONDO:0100219Mondo
Findings
No curated finding names growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 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
11 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.
- Increased circulating IgE concentrationHPOHP:0003212
- 8 of 9 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 2 of 3 reported patients
- Short statureHPOHP:0004322
- 6 of 9 reported patients
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- 4 of 9 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 9 reported patients
- Recurrent infectionsHPOHP:0002719
- 1 of 3 reported patients
- Celiac diseaseHPOHP:0002608
- 1 of 9 reported patients
- ThyroiditisHPOHP:0100646
- 1 of 9 reported patients
- Delayed pubertyHPOHP:0000823
- Delayed skeletal maturationHPOHP:0002750
- Postnatal growth retardationHPOHP:0008897
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.
- STAT5BHGNC:11367
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2026
Where it sits
Other names
2 names
Resolves to: growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
- Also called
- GHISID2growth hormone insensitivity with immune dysregulation 2, autosomal dominant