Thyroid dyshormonogenesis 2A

MONDO:0010133

Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.

Also known as: TDH2A, TPO familial thyroid dyshormonogenesis, familial thyroid dyshormonogenesis caused by mutation in TPO, hypothyroidism, congenital, due to dyshormonogenesis, 2A, thyroid dyshormonogenesis 2A, thyroid dyshormonogenesis type 2A, thyroid hormonogenesis, genetic defect in, 2A, iodide peroxidase deficiency

5 clinical trials for this condition and its sub-types, 4 tagged with Thyroid dyshormonogenesis 2A itself.

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Where it sits in the disease tree

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Part of

↑ Familial thyroid dyshormonogenesis (4)

Including sub-types (5) Tagged with Thyroid dyshormonogenesis 2A (4)

Trials to join now! 4 Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Thyroid dyshormonogenesis 2A

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth