Iodotyrosine deiodination defect(TDH4)

MedGen UID:: 87429
•Concept ID:: C0342195
•: Disease or Syndrome

Synonyms:	Congenital Hypothyroidism, IYD-Related; DEIODINASE DEFICIENCY; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 4; IODOTYROSINE DEHALOGENASE DEFICIENCY; TDH4; Thyroid dyshormonogenesis 4; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4
SNOMED CT:	Iodotyrosine deiodination defect (17885001); Hypothyroidism due to iodotyrosine deiodinase defect (17885001); Genetic defect in thyroid hormonogenesis IV (17885001); Deiodinase deficiency (17885001); Iodotyrosine deiodinase deficiency (17885001); Iodotyrosine dehalogenase deficiency (17885001); Hypothyroidism due to deiodase defect (17885001)

Gene (location): Gene(s) directly associated with this condition or phenotype.	IYD (6q25.1)

Monarch Initiative:	MONDO:0010136
OMIM®:	274800

Definition

Presumed loss-of-function mutation(s) in the IYD gene, resulting in reduced activity of the enzyme iodotyrosine deiodinase. [from NCI]

Clinical features

From HPO

Growth delay

MedGen UID:: 99124
•Concept ID:: C0456070
•: Pathologic Function

A deficiency or slowing down of growth pre- and postnatally.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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