Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

familial hyperthyroidism due to mutations in TSH receptor - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial hyperthyroidism due to mutations in TSH receptor

MONDO:0012203

Also known as:familial non-immune hyperthyroidismresistance to thyroid stimulating hormoneNonautoimmune hyperthyroidism

Overview

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.

GeneticsSporadic (not inherited), Autosomal dominant · TSHR (chr 14)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased circulating thyroglobulin concentration, Increased circulating T4 concentration, Increased circulating free T3, and Hyperthyroidism and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	5	Increased circulating thyroglobulin concentration, Increased circulating T4 concentration, Anti-thyroid peroxidase antibody positivity

Genetic Landscape

TSHR function has not been fully characterized.

Familial hyperthyroidism due to mutations in TSH receptor is associated with mutations in the TSHR gene on chromosome 14.

Diagnosis

Genetic testing for TSHR is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial hyperthyroidism due to mutations in TSH receptor.

10 publications have been identified in PubMed for familial hyperthyroidism due to mutations in TSH receptor. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (30%), and Basic Science / Preclinical (10%).

Research Type	Count	% of Total
Patient case studies	6	60%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609152

Orphanet

European rare disease database

Orphanet:424

GARD

Genetic and Rare Diseases Info Center

GARD:2858

Questions for Your Care Team

→Should I pursue genetic testing for TSHR, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

familial hyperthyroidism due to mutations in TSH receptor

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

familial hyperthyroidism due to mutations in TSH receptor

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications