Preferred Label : Thyroid dyshormonogenesis 3;
Symbol : TDH3;
CISMeF acronym : TDH3;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Hypothyroidism, congenital, due to dyshormonogenesis, 3; Thyroid hormonogenesis, genetic defect in, 3;
Description : Kanou et al. (2007) reviewed characteristics of thyroid dyshormonogenesis caused by
mutations in the thyroglobulin (TG) gene. This form of thyroid dyshormonogenesis has
an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive
manner, the disorder in the majority of patients causes large goiters of elastic and
soft consistency. Although the degree of thyroid dysfunction varies considerably among
patients with defective TG synthesis, patients usually have a relatively high serum
free T3 concentration with disproportionately low free T4 level. The maintenance of
relatively high FT3 levels prevents profound tissue hypothyroidism except in brain
and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual
defects in some cases.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the thyroglobulin gene (TG, 188450.0001);
Neoplasia : Thyroid cancer;
Laboratory abnormalities : Thyroid hormone coupling defect; Excessive iodide trapping; High FT3/FT4 ratio;
Prefixed ID : #274700;
Origin ID : 274700;
UMLS CUI : C0342194;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
