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congenital nongoitrous hypothyroidism 6 (CHNG6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital nongoitrous hypothyroidism 6

MONDO:0013757

Also known as:CHNG6THRA hypothyroidism, congenital, nongoitroushypothyroidism, congenital, nongoitrous caused by mutation in THRA

Overview

Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.

GeneticsAutosomal dominant · THRA (chr 17)

ResearchLimited published research (2 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: Congenital hip dislocation, Increased body weight, Broad-based gait, and Delayed eruption of teeth and 16 more.

Organ System	Phenotype Count	Example Features
Pregnancy and birth	2	Congenital hip dislocation, Congenital hypothyroidism

Genetic Landscape

THRA function has not been fully characterized.

Congenital nongoitrous hypothyroidism 6 is associated with mutations in the THRA gene on chromosome 17.

Diagnosis

Genetic testing for THRA 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.

No clinical trials have been registered for congenital nongoitrous hypothyroidism 6.

2 publications have been identified in PubMed for congenital nongoitrous hypothyroidism 6. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Persani L (2024). [PMID: 38963712](https://pubmed.ncbi.nlm.nih.gov/38963712/). *European thyroid journal*. [Review / Meta-Analysis]
Yalçın HY (2024). [PMID: 38841327](https://pubmed.ncbi.nlm.nih.gov/38841327/). *Molecular syndromology*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614450

Questions for Your Care Team

→Should I pursue genetic testing for THRA, and what would the results mean for my family?
→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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congenital nongoitrous hypothyroidism 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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