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thyroid dyshormonogenesis 2A (TDH2A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thyroid dyshormonogenesis 2A

MONDO:0010133

Also known as:TDH2ATPO familial thyroid dyshormonogenesisfamilial thyroid dyshormonogenesis caused by mutation in TPO

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Overview

Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.

GeneticsAutosomal recessive · TPO (chr 2)

Clinical Trials1 registered

ResearchLimited published research (8 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 always present findings: Decreased circulating T4 concentration, Thyroid defect in oxidation and organification of iodide, Hypothyroidism, and Goiter.

Organ System	Phenotype Count	Example Features
Hormones	2	Thyroid defect in oxidation and organification of iodide, Hypothyroidism

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Genetic Landscape

TPO function has not been fully characterized.

Thyroid dyshormonogenesis 2A is associated with mutations in the TPO gene on chromosome 2.

Diagnosis

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

Biomarker and diagnostic research for thyroid dyshormonogenesis 2A has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present 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.

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

8 publications have been identified in PubMed for thyroid dyshormonogenesis 2A. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

Gawandi S (2026). [PMID: 41675115](https://pubmed.ncbi.nlm.nih.gov/41675115/). *Indian journal of clinical biochemistry : IJCB*. [Case Report / Case Series]
Kurnaz E (2026). [PMID: 39378853](https://pubmed.ncbi.nlm.nih.gov/39378853/). *Horm Res Paediatr*. [Epidemiology / Natural History]
Jiang R (2026). [PMID: 41727961](https://pubmed.ncbi.nlm.nih.gov/41727961/). *J Transl Int Med*. [Basic Science / Preclinical]
Islam MS (2026). [PMID: 41004687](https://pubmed.ncbi.nlm.nih.gov/41004687/). *J Clin Endocrinol Metab*. [Basic Science / Preclinical]
Su Y (2025). [PMID: 41133710](https://pubmed.ncbi.nlm.nih.gov/41133710/). *Int J Neonatal Screen*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:274500

GARD

Genetic and Rare Diseases Info Center

GARD:18189

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 2A

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team