familial hyperthyroidism due to mutations in TSH receptor
Findings
No curated finding names familial hyperthyroidism due to mutations in TSH receptor yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
Definition from the Mondo Disease Ontology (MONDO:0012203), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
26 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.
- Accelerated skeletal maturationHPOHP:0005616
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Activating thyroid-stimulating hormone receptor defectHPOHP:0011790
- Obligate (100% of cases)
- Decreased thyroid-stimulating hormone levelHPOHP:0031098
- 11 of 11 reported patients
- Elevated circulating thyroglobulin concentrationHPOHP:0025484
- 1 of 1 reported patient
- GoiterHPOHP:0000853
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- HyperactivityHPOHP:0000752
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
Show the remaining 14
- Thyroid hyperplasiaHPOHP:0008249
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- DiarrheaHPOHP:0002014
- Very frequent (80% to 99% of cases)
- Hand tremorHPOHP:0002378
- Very frequent (80% to 99% of cases)
- Small for gestational ageHPOHP:0001518
- Very frequent (80% to 99% of cases)
- Thyrotoxicosis with diffuse goiterHPOHP:0011784
- Very frequent (80% to 99% of cases)
- Weight lossHPOHP:0001824
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: familial hyperthyroidism due to mutations in TSH receptor
- Also called
- familial non-immune hyperthyroidismresistance to thyroid stimulating hormone