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thyroid dyshormonogenesis 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thyroid dyshormonogenesis 5

MONDO:0010137

Also known as:DUOXA2 familial thyroid dyshormonogenesisTDH5familial thyroid dyshormonogenesis caused by mutation in DUOXA2

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Overview

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.

GeneticsAutosomal recessive · DUOXA2 (chr 15)

Clinical Trials1 registered

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: Abnormality of metabolism/homeostasis, Hypothyroidism, Growth delay, and Goiter and 1 more.

Organ System	Phenotype Count	Example Features
Metabolism	1	Abnormality of metabolism/homeostasis
Hormones

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.

DUOXA2 encodes dual oxidase maturation factor 2 (320 aa). Required for the maturation and transport of functional DUOX2 from the endoplasmic reticulum to the plasma membrane. Recruits DUOX2 to the apical cell membrane Highest expression in Thyroid (25.5 TPM) and Vagina (7.4 TPM).

Thyroid dyshormonogenesis 5 is associated with mutations in the DUOXA2 gene on chromosome 15.

The DUOXA2 protein participates in Pancreatic pro-acinar cell produces pancreatic acinar cell pathway.

DUOXA2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DUOXA2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for thyroid dyshormonogenesis 5 has been reported in the published literature.

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.

15 publications have been identified in PubMed for thyroid dyshormonogenesis 5. Research spans Basic Science / Preclinical (67%), Case Report / Case Series (20%), and Diagnostic / Biomarker (7%).

Research Type	Count	% of Total
Laboratory research	10	67%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 3:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:274900

GARD

Genetic and Rare Diseases Info Center

GARD:18192

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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Kisho

thyroid dyshormonogenesis 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

thyroid dyshormonogenesis 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications