thyroid hormone metabolism, abnormal 1
Findings
No curated finding names thyroid hormone metabolism, abnormal 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0800046), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
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 free T3HPOHP:0032210
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Increased circulating free T4 concentrationHPOHP:0033077
- 4 of 4 reported patients
- Increased circulating T4 concentrationHPOHP:0031506
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
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.
- SECISBP2HGNC:30972
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: thyroid hormone metabolism, abnormal 1
- Also called
- short stature-delayed bone age due to thyroid hormone metabolism deficiencyTHMA1