Familial thyroid dyshormonogenesis

rare

A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.

Identifiers: MONDO:0010132 Orphanet:95716
Part of: Congenital hypothyroidism Inherited thyroid metabolism disease
Also known as: nongoitrous hyperthyrotropinemia · thyroid dyshormonogenesis

Subtypes

All diseases Rare only

Disease	ID	Genes
Pendred syndrome	MONDO:0010134	SLC26A4
Thyroid dyshormonogenesis 1	MONDO:0020716	SLC5A5
Thyroid dyshormonogenesis 2A	MONDO:0010133	TPO
Thyroid dyshormonogenesis 3	MONDO:0010135	TG
Thyroid dyshormonogenesis 4	MONDO:0010136	IYD
Thyroid dyshormonogenesis 5	MONDO:0010137	DUOXA2
Thyroid dyshormonogenesis 6	MONDO:0011792	DUOX2

Rare disease

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