familial gestational hyperthyroidism
MONDO:0011309Mondo
Findings
No curated finding names familial gestational hyperthyroidism 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
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.
- Activating thyroid-stimulating hormone receptor defectHPOHP:0011790
- Obligate (100% of cases)
- Decreased thyroid-stimulating hormone levelHPOHP:0031098
- 1 of 1 reported patient
- HyperthyroidismHPOHP:0000836
- 1 of 1 reported patient
- Obligate (100% of cases)
- Increased circulating T4 concentrationHPOHP:0031506
- 1 of 1 reported patient
- TachycardiaHPOHP:0001649
- 1 of 1 reported patient
- DiarrheaHPOHP:0002014
- Very frequent (80% to 99% of cases)
- GoiterHPOHP:0000853
- Very frequent (80% to 99% of cases)
- Hand tremorHPOHP:0002378
- Very frequent (80% to 99% of cases)
- Thyroid hyperplasiaHPOHP:0008249
- Very frequent (80% to 99% of cases)
- Thyrotoxicosis with diffuse goiterHPOHP:0011784
- Very frequent (80% to 99% of cases)
- Weight lossHPOHP:0001824
- Very frequent (80% to 99% of cases)
- AgitationHPOHP:0000713
- Frequent (30% to 79% of cases)
Reported absent (1)
- Autoimmune antibody positivityHPOHP:0030057
Show the remaining 4
- HyperactivityHPOHP:0000752
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Sleep disturbanceHPOHP:0002360
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- Occasional (5% to 29% of cases)
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.
- TSHRHGNC:12373
- Definitive · G2P · Autosomal dominant · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021