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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): 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.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Goiter
MedGen UID:
42270
Concept ID:
C0018021
Disease or Syndrome
An enlargement of the thyroid gland.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.

Recent clinical studies

Etiology

Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193

Diagnosis

Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193
Iglesias A, García-Nimo L, Cocho de Juan JA, Moreno JC
Best Pract Res Clin Endocrinol Metab 2014 Mar;28(2):151-9. Epub 2013 Oct 29 doi: 10.1016/j.beem.2013.10.009. PMID: 24629858
Aurengo A, Savoie F, Leger AF, Savoie JC
J Nucl Med 1983 Dec;24(12):1143-8. PMID: 6315903
MURRAY P, THOMSON JA, MCGIRR EM, WALLACE TJ, MACDONALD EM, MACCABE HJ
Lancet 1965 Jan 23;1(7378):183-5. doi: 10.1016/s0140-6736(65)90971-2. PMID: 14238044
MOSIER HD
Calif Med 1959 Jan;90(1):32-6. PMID: 13618742Free PMC Article

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