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hypothyroidism, congenital, nongoitrous, 5 (CHNG5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypothyroidism, congenital, nongoitrous, 5

MONDO:0009154

Also known as:CHNG5NKX2-5 hypothyroidism, congenital, nongoitroushypothyroidism, congenital nongoitrous, 5

Overview

Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.

GeneticsAutosomal dominant · NKX2-5 (chr 5)

ResearchLimited published research (3 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 free T4 concentration, Elevated circulating thyroid-stimulating hormone concentration, and Hypothyroidism; and common findings: Ectopic thyroid. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	6	Thyroid hypoplasia, Thyroid agenesis, Ectopic thyroid

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.

NKX2-5 encodes NK2 homeobox 5 (324 aa). Transcription factor required for the development of the heart and the spleen. During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4. Highest expression in Heart Atrial Appendage (113.7 TPM) and Heart Left Ventricle (108.3 TPM).

Hypothyroidism, congenital, nongoitrous, 5 is associated with mutations in the NKX2-5 gene on chromosome 5.

The NKX2-5 protein participates in Expression of NKX2-5 in cardiogenesis, GATA4, SMAD1:SMAD4, MEF2C, TBX20, and NKX2-5 bind the NKX2-5 gene, and GATA4 and NKX2-5 bind the HAND1 gene pathways.

NKX2-5 is classified as a druggable target (Transcription Factor and Transcription Factor Complex categories) with score 4.0.

Diagnosis

Genetic testing for NKX2-5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

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 hypothyroidism, congenital, nongoitrous, 5.

3 publications have been identified in PubMed for hypothyroidism, congenital, nongoitrous, 5. Research spans Basic Science / Preclinical (100%).

Recent Publications

Shima H (2025). [PMID: 40494332](https://pubmed.ncbi.nlm.nih.gov/40494332/). *Hormone research in paediatrics*. [Basic Science / Preclinical]
Narumi S (2024). [PMID: 38714868](https://pubmed.ncbi.nlm.nih.gov/38714868/). *Nature genetics*. [Basic Science / Preclinical]
Narumi S (2024). [PMID: 39506342](https://pubmed.ncbi.nlm.nih.gov/39506342/). *Annals of pediatric endocrinology & metabolism*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:225250

GARD

Genetic and Rare Diseases Info Center

GARD:15165

Questions for Your Care Team

→Should I pursue genetic testing for NKX2-5, 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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hypothyroidism, congenital, nongoitrous, 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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