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thyroid hormone resistance, generalized, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thyroid hormone resistance, generalized, autosomal dominant

MONDO:0008569

Also known as:thyroid hormone resistanceGRTHGthr

Find Clinical TrialsTrials

Overview

GeneticsAutosomal dominant · THRB (chr 3)

Clinical Trials3 registered · 2 recruiting

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, Delayed speech and language development, Increased circulating free T4 concentration, and Increased circulating free T3 and others; and common findings: Attention deficit hyperactivity disorder.

Organ System	Phenotype Count	Example Features
Lab test results	2	Increased circulating thyroglobulin concentration, Increased circulating free T4 concentration

Genetic Landscape

THRB function has not been fully characterized.

Thyroid hormone resistance, generalized, autosomal dominant is associated with mutations in the THRB gene on chromosome 3.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

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

Biomarker and diagnostic research for thyroid hormone resistance, generalized, autosomal dominant has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 1 common feature.

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.

3 clinical trials registered, 2 recruiting. Pipeline includes 1 PHASE3.

73 publications have been identified in PubMed for thyroid hormone resistance, generalized, autosomal dominant. Research spans Case Report / Case Series (44%), Epidemiology / Natural History (25%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Patient case studies	32	44%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:188570

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for THRB, 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?

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thyroid hormone resistance, generalized, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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thyroid hormone resistance, generalized, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications