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thyroid dyshormonogenesis 1 (TDH1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thyroid dyshormonogenesis 1

MONDO:0020716

Also known as:TDH1familial thyroid dyshormonogenesis 1hypothyroidism, congenital, due to dyshormonogenesis, 1

Find Clinical TrialsTrials

Overview

GeneticsAutosomal recessive · SLC5A5 (chr 19)

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: Lethargy, Dry skin, Umbilical hernia, and Hypothyroidism and 5 more.

Organ System	Phenotype Count	Example Features
Skin	1	Dry skin
Hormones

Genetic Landscape

SLC5A5 function has not been fully characterized.

Thyroid dyshormonogenesis 1 is associated with mutations in the SLC5A5 gene on chromosome 19.

Diagnosis

Genetic testing for SLC5A5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for thyroid dyshormonogenesis 1 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.

102 publications have been identified in PubMed for thyroid dyshormonogenesis 1. Kisho has analyzed 20 by research type. Research spans Review / Meta-Analysis (50%), Basic Science / Preclinical (15%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Research summaries	10

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:24 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:274400

GARD

Genetic and Rare Diseases Info Center

GARD:18188

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 1

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 1

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