thyroid dyshormonogenesis 3
Findings
No curated finding names thyroid dyshormonogenesis 3 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 TG gene.
Definition from the Mondo Disease Ontology (MONDO:0010135), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
23 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.
- AspirationHPOHP:0002835
- 1 of 1 reported patient
- Decreased circulating free T4 concentrationHPOHP:0033078
- 6 of 6 reported patients
- Decreased circulating T4 concentrationHPOHP:0031507
- 1 of 1 reported patient
- Decreased circulating thyroglobulin concentrationHPOHP:6000244
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- Dry skinHPO
Show the remaining 11
- Large posterior fontanelleHPOHP:0004491
- 1 of 1 reported patient
- Multinodular goiterHPOHP:0005987
- 2 of 2 reported patients
- Prolonged neonatal jaundiceHPOHP:0006579
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Thyroid hyperplasiaHPOHP:0008249
- 2 of 2 reported patients
- Follicular thyroid carcinomaHPOHP:0006731
- 1 of 4 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.
- TGHGNC:11764
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: thyroid dyshormonogenesis 3
- Also called
- familial thyroid dyshormonogenesis caused by mutation in TGhypothyroidism, congenital, due to dyshormonogenesis, 3TDH3TG familial thyroid dyshormonogenesisthyroid dyshormonogenesis type 3thyroid hormonogenesis, genetic defect in, 3