" /> Thyroid dyshormonogenesis 5 - CISMeF





Preferred Label : Thyroid dyshormonogenesis 5;

Symbol : TDH5;

CISMeF acronym : TDH5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypothyroidism, congenital, due to dyshormonogenesis, 5; Thyroid hormonogenesis, genetic defect in, 5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dual oxidase maturation factor 2 gene (DUOXA2, 612772.0001);

Laboratory abnormalities : Low or low-normal serum T4; Absent or abnormal thyroglobulin; Thyroglobulin synthesis defect;

Prefixed ID : #274900;

Détails


Vous pouvez consulter :


Nous contacter.
26/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.