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thyroid dyshormonogenesis 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thyroid dyshormonogenesis 6

MONDO:0011792

Also known as:DUOX2 familial thyroid dyshormonogenesisfamilial thyroid dyshormonogenesis caused by mutation in DUOX2thyroid dyshormonogenesis type 6

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Overview

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.

GeneticsAutosomal recessive · DUOX2 (chr 15)

Clinical Trials1 registered

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Hypothyroidism and Congenital hypothyroidism.

Organ System	Phenotype Count	Example Features
Hormones	2	Hypothyroidism, Congenital hypothyroidism
Pregnancy and birth	1	Congenital hypothyroidism

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Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DUOX2 encodes dual oxidase 2 (1,548 aa). Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormone synthesis. Highest expression in Thyroid (124.8 TPM) and Vagina (30.5 TPM).

Thyroid dyshormonogenesis 6 is associated with mutations in the DUOX2 gene on chromosome 15.

The DUOX2 protein participates in DUOX1 reduces O2 to H2O2 and Lactoperoxidase (LPO) produces OSCN- pathways.

DUOX2 is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, and Transporter categories) with score 0.0.

Diagnosis

Genetic testing for DUOX2 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.

5 publications have been identified in PubMed for thyroid dyshormonogenesis 6. Research spans Basic Science / Preclinical (40%), Epidemiology / Natural History (40%), and Case Report / Case Series (20%).

Recent Publications

Kurnaz E (2026). [PMID: 39378853](https://pubmed.ncbi.nlm.nih.gov/39378853/). *Hormone research in paediatrics*. [Epidemiology / Natural History]
Qi R (2025). [PMID: 41393301](https://pubmed.ncbi.nlm.nih.gov/41393301/). *Frontiers in endocrinology*. [Case Report / Case Series]
Dalal A (2025). [PMID: 38986456](https://pubmed.ncbi.nlm.nih.gov/38986456/). *Hormone research in paediatrics*. [Basic Science / Preclinical]
Jia Y (2025). [PMID: 39988947](https://pubmed.ncbi.nlm.nih.gov/39988947/). *The Journal of clinical endocrinology and metabolism*. [Basic Science / Preclinical]
Zhang CC (2025). [PMID: 40516894](https://pubmed.ncbi.nlm.nih.gov/40516894/). *Clinica chimica acta; international journal of clinical chemistry*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607200

GARD

Genetic and Rare Diseases Info Center

GARD:18193

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 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team