thyroid dyshormonogenesis 2A
Findings
No curated finding names thyroid dyshormonogenesis 2A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.
Definition from the Mondo Disease Ontology (MONDO:0010133), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
4 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 T4 concentrationHPOHP:0031507
- 1 of 1 reported patient
- GoiterHPOHP:0000853
- 1 of 1 reported patient
- HypothyroidismHPOHP:0000821
- 1 of 1 reported patient
- Thyroid defect in oxidation and organification of iodideHPOHP:0008263
- 1 of 1 reported patient
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.
- TPOHGNC:12015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: thyroid dyshormonogenesis 2A
- Also called
- familial thyroid dyshormonogenesis caused by mutation in TPOhypothyroidism, congenital, due to dyshormonogenesis, 2ATDH2Athyroid dyshormonogenesis type 2Athyroid hormonogenesis, genetic defect in, 2ATPO familial thyroid dyshormonogenesis