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thyroid dyshormonogenesis 3 (TDH3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thyroid dyshormonogenesis 3

MONDO:0010135

Also known as:TDH3TG familial thyroid dyshormonogenesisfamilial thyroid dyshormonogenesis caused by mutation in TG

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Overview

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.

GeneticsAutosomal recessive · TG (chr 8)

Clinical Trials1 registered

ResearchLimited published research (6 articles)

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: Thyroid carcinoma, Compensated hypothyroidism, Increased T3/T4 ratio, and Goiter and 1 more.

Organ System	Phenotype Count	Example Features
Hormones	2	Thyroid carcinoma, Compensated hypothyroidism
Brain and nerves

Genetic Landscape

TG function has not been fully characterized.

Thyroid dyshormonogenesis 3 is associated with mutations in the TG gene on chromosome 8.

Diagnosis

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

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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

6 publications have been identified in PubMed for thyroid dyshormonogenesis 3. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).

Recent Publications

Kurnaz E (2026). [PMID: 39378853](https://pubmed.ncbi.nlm.nih.gov/39378853/). *Horm Res Paediatr*. [Epidemiology / Natural History]
Dalal A (2025). [PMID: 38986456](https://pubmed.ncbi.nlm.nih.gov/38986456/). *Horm Res Paediatr*. [Basic Science / Preclinical]
Ricci V (2025). [PMID: 41262259](https://pubmed.ncbi.nlm.nih.gov/41262259/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
Cevizoglu M (2025). [PMID: 40346829](https://pubmed.ncbi.nlm.nih.gov/40346829/). *Endocr Res*. [Case Report / Case Series]
Tsai CC (2024). [PMID: 38923290](https://pubmed.ncbi.nlm.nih.gov/38923290/). *Kaohsiung J Med Sci*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:274700

GARD

Genetic and Rare Diseases Info Center

GARD:18190

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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 dyshormonogenesis 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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