Details of Disease

General Information of Disease (ID: DISAOZYW)

Disease Name Congenital nongoitrous hypothryoidism 6
Synonyms
hypothyroidism, congenital, nongoitrous, 6; congenital nongoitrous hypothyroidism 6; hypothyroidism, congenital, nongoitrous caused by mutation in THRA; CHNG6; hypothyroidism, congenital, nongoitrous, type 6; THRA hypothyroidism, congenital, nongoitrous
Definition Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.
Disease Hierarchy
DIS66ON2: Hypothyroidism, congenital, nongoitrous
DISHSJJN: Peripheral resistance to thyroid hormones
DISAOZYW: Congenital nongoitrous hypothryoidism 6
Disease Identifiers
MONDO ID
MONDO_0013757
UMLS CUI
C3280817
OMIM ID
614450
MedGen ID
482447

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
THRA TTTSEPU Strong Biomarker [1]
THRA TTTSEPU Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
THRA OTKRLVD7 Definitive Autosomal dominant [2]
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References

1 Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor- Mutations.J Clin Endocrinol Metab. 2016 Aug;101(8):2945-54. doi: 10.1210/jc.2016-1404. Epub 2016 May 4.
2 A mutation in the thyroid hormone receptor alpha gene. N Engl J Med. 2012 Jan 19;366(3):243-9. doi: 10.1056/NEJMoa1110296. Epub 2011 Dec 14.