hypothyroidism, congenital, nongoitrous, 5
Findings
No curated finding names hypothyroidism, congenital, nongoitrous, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.
Definition from the Mondo Disease Ontology (MONDO:0009154), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating free T4 concentrationHPOHP:0033078
- 4 of 4 reported patients
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- 4 of 4 reported patients
- HypothyroidismHPOHP:0000821
- 4 of 4 reported patients
- Ectopic thyroidHPOHP:0100028
- 3 of 4 reported patients
- Decreased circulating free T3HPOHP:0032210
- 1 of 4 reported patients
- Mitral regurgitationHPOHP:0001653
- 1 of 4 reported patients
- Patent foramen ovaleHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NKX2-5HGNC:2488
- Definitive · G2P · Autosomal dominant · 2015
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
Other names
5 names
Resolves to: hypothyroidism, congenital, nongoitrous, 5
- Also called
- CHNG5hypothyroidism, congenital nongoitrous, 5hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5hypothyroidism, congenital, nongoitrous, type 5NKX2-5 hypothyroidism, congenital, nongoitrous