thyroid dyshormonogenesis 6
MONDO:0011792Mondo
Findings
No curated finding names thyroid dyshormonogenesis 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.
Definition from the Mondo Disease Ontology (MONDO:0011792), read 2026-09-29. CC BY 4.0.
Features
20 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
- Frequent (30% to 79% of cases)
- Elevated circulating thyroglobulin concentrationHPOHP:0025484
- Frequent (30% to 79% of cases)
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- Frequent (30% to 79% of cases)
- GoiterHPOHP:0000853
- Frequent (30% to 79% of cases)
- Thyroid defect in oxidation and organification of iodideHPOHP:0008263
- Frequent (30% to 79% of cases)
- Abnormal radioactive iodine uptake test resultHPOHP:0031221
- Occasional (5% to 29% of cases)
- ConstipationHPOHP:0002019
- Occasional (5% to 29% of cases)
- Excessive daytime somnolenceHPOHP:0001262
- Occasional (5% to 29% of cases)
- Feeding difficultiesHPOHP:0011968
- Occasional (5% to 29% of cases)
- Hoarse cryHPOHP:0001615
- Occasional (5% to 29% of cases)
- LethargyHPOHP:0001254
- Occasional (5% to 29% of cases)
- MacroglossiaHPOHP:0000158
- Occasional (5% to 29% of cases)
Show the remaining 8
- Mottled pigmentationHPOHP:0001070
- Occasional (5% to 29% of cases)
- Postterm pregnancyHPOHP:0031169
- Occasional (5% to 29% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- Occasional (5% to 29% of cases)
- Umbilical herniaHPOHP:0001537
- Occasional (5% to 29% of cases)
- EdemaHPOHP:0000969
- Very rare (1% to 4% of cases)
- HypothermiaHPOHP:0002045
- Very rare (1% to 4% of cases)
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.
- DUOX2HGNC:13273
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: thyroid dyshormonogenesis 6
- Also called
- DUOX2 familial thyroid dyshormonogenesisfamilial thyroid dyshormonogenesis caused by mutation in DUOX2thyroid dyshormonogenesis type 6