Preferred Label : Thyroid dyshormonogenesis 2a;
Symbol : TDH2A;
CISMeF acronym : TDH2A;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Thyroid peroxidase deficiency; Hypothyroidism, congenital, due to dyshormonogenesis, 2a; Thyroid hormonogenesis, genetic defect in, 2a; Iodide peroxidase deficiency;
Description : Approximately 10% of patients with congenital hypothyroidism harbor inborn errors
of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo
et al., 2005). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency
(Park and Chatterjee, 2005). Defects in TPO cause a severe form of congenital hypothyroidism
characterized by a complete and immediate release of accumulated radioiodide from
the thyroid after sodium perchlorate administration (Bakker et al., 2000). This release
of radioiodide represents total iodine organification defect (TIOD), a disruption
of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide
and bound to tyrosine residues in thyroglobulin (TG; 188450) to form iodotyrosine.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutations in the thyroid peroxidase gene (TPO, 606765.0001);
Laboratory abnormalities : Rapid radioactive iodide (RAI) discharge after thiocyanate or perchlorate; Thyroid peroxidase defect; Tyrosine iodination defect;
Prefixed ID : #274500;
Origin ID : 274500;
UMLS CUI : C1291299;
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)
