hypothyroidism, congenital, nongoitrous, 2
Findings
No curated finding names hypothyroidism, congenital, nongoitrous, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.
Definition from the Mondo Disease Ontology (MONDO:0024264), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Juvenile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
6 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.
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- 4 of 4 reported patients
- HypothyroidismHPOHP:0000821
- 5 of 5 reported patients
- Decreased circulating T4 concentrationHPOHP:0031507
- 4 of 5 reported patients
- Thyroid hypoplasiaHPOHP:0005990
- 4 of 5 reported patients
- Elevated circulating thyroglobulin concentrationHPOHP:0025484
- 1 of 2 reported patients
- Thyroid agenesisHPOHP:0008191
- 1 of 5 reported patients
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.
- PAX8HGNC:8622
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: hypothyroidism, congenital, nongoitrous, 2
- Also called
- CHNG2hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia