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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.
See: Feature record | Search on this feature
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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Goiter
MedGen UID:
42270
•Concept ID:
C0018021
•
Disease or Syndrome
An enlargement of the thyroid gland.
See: Feature record | Search on this feature
Hypothyroidism
MedGen UID:
6991
•Concept ID:
C0020676
•
Disease or Syndrome
Deficiency of thyroid hormone.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Genetics of primary congenital hypothyroidism-a review.
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

Genetics of primary congenital hypothyroidism-a review.
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
Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.
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
Would I-123 di-iodotyrosine provide a harmless deiodination test? Concise communication.
Aurengo A, Savoie F, Leger AF, Savoie JC
J Nucl Med 1983 Dec;24(12):1143-8. PMID: 6315903
ABSENT AND DEFECTIVE IODOTYROSINE DEIODINATION IN A FAMILY SOME OF WHOSE MEMBERS ARE GOITROUS CRETINS.
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
Sporadic goitrous cretinism.
MOSIER HD
Calif Med 1959 Jan;90(1):32-6. PMID: 13618742Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
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    • PubMed (OMIM)
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