thyroid hormone metabolism, abnormal, 3
MONDO:0859354Mondo
Findings
No curated finding names thyroid hormone metabolism, abnormal, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
11 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.
- Abdominal painHPOHP:0002027
- 1 of 1 reported patient
- Abnormal circulating free T4 concentrationHPOHP:0033076
- 1 of 1 reported patient
- Decreased circulating selenium concentrationHPOHP:0033192
- 1 of 1 reported patient
- Easy fatigabilityHPOHP:0003388
- 1 of 1 reported patient
- Elevated circulating reverse T3 concentrationHPOHP:0034288
- 2 of 2 reported patients
- Euthyroid hyperthyroxinemiaHPOHP:0008247
- 1 of 1 reported patient
- Increased circulating free T3HPOHP:0011788
- 1 of 1 reported patient
- Increased circulating free T4 concentrationHPOHP:0033077
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- Abnormal circulating free T3 concentrationHPOHP:0032209
- 0 of 1 reported patient
- Abnormal circulating thyroid-stimulating hormone concentrationHPOHP:0031097
- 0 of 2 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.
- HGNC:12348HGNC:12348
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of