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

Rare Disease

thyroid hormone resistance, generalized, autosomal recessive

MONDO:0010131

Also known as:thyroid hormone resistancethyroid hormone resistance syndromethyroid hormone resistance, autosomal recessive

Overview

A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.

GeneticsAutosomal recessive · THRB (chr 3)

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 body weight, Increased circulating T4 concentration, Anti-thyroid peroxidase antibody positivity, and Fatigue and others; and common findings: Anti-thyroglobulin antibody positivity, Anti-thyroid-stimulating hormone receptor antibody positivity, and Elevated circulating thyroid-stimulating hormone concentration. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	7

Genetic Landscape

THRB function has not been fully characterized.

Thyroid hormone resistance, generalized, autosomal recessive 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 recessive has been reported in the published literature.

Prognosis

Phenotype severity distribution: 10 always present features, 3 common features.

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 thyroid hormone resistance, generalized, autosomal recessive.

72 publications have been identified in PubMed for thyroid hormone resistance, generalized, autosomal recessive. Research spans Case Report / Case Series (42%), Epidemiology / Natural History (24%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Patient case studies	30	42%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:274300

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

thyroid hormone resistance, generalized, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications