Details of Disease

General Information of Disease (ID: DISMIKWD)

Disease Name Thyroid dyshormonogenesis 5
Synonyms
hypothyroidism, congenital, due to dyshormonogenesis, 5; thyroid hormonogenesis, genetic defect in, 5; thyroid dyshormonogenesis 5; DUOXA2 familial thyroid dyshormonogenesis; thyroid dyshormonogenesis type 5; familial thyroid dyshormonogenesis caused by mutation in DUOXA2; TDH5
Definition Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.
Disease Hierarchy
DISWR94R: Inherited thyroid metabolism disease
DISALTXN: Familial thyroid dyshormonogenesis
DISMIKWD: Thyroid dyshormonogenesis 5
Disease Identifiers
MONDO ID
MONDO_0010137
MESH ID
C562771
UMLS CUI
C0342196
OMIM ID
274900
MedGen ID
87430
SNOMED CT ID
63127008

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
DUOXA2 OT7AZBZJ Strong Autosomal recessive [1]
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References

1 Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab. 2008 Feb;93(2):605-10. doi: 10.1210/jc.2007-2020. Epub 2007 Nov 27.