Details of Disease

General Information of Disease (ID: DISBZ5RR)

Disease Name Thyroid dyshormonogenesis 4
Synonyms
deiodinase deficiency; iodotyrosine dehalogenase deficiency; thyroid dyshormonogenesis 4; TDH4; thyroid hormonogenesis, genetic defect in, 4; hypothyroidism, congenital, due to dyshormonogenesis, 4; familial thyroid dyshormonogenesis caused by mutation in IYD; IYD familial thyroid dyshormonogenesis; thyroid dyshormonogenesis type 4
Definition Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene.
Disease Hierarchy
DISWR94R: Inherited thyroid metabolism disease
DISALTXN: Familial thyroid dyshormonogenesis
DISBZ5RR: Thyroid dyshormonogenesis 4
Disease Identifiers
MONDO ID
MONDO_0010136
MESH ID
C562770
UMLS CUI
C0342195
OMIM ID
274800
MedGen ID
87429
SNOMED CT ID
17885001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IYD OT8BQWTE Strong Autosomal recessive [1]
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References

1 Mutations in the iodotyrosine deiodinase gene and hypothyroidism. N Engl J Med. 2008 Apr 24;358(17):1811-8. doi: 10.1056/NEJMoa0706819.