Details of Disease

General Information of Disease (ID: DISF731E)

Disease Name Thyroid hormone resistance, generalized, autosomal dominant
Synonyms
hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones; GRTH; thyroid hormone unresponsiveness; Gthr; thyroid hormone resistance; thyroid hormone resistance, generalized, autosomal dominant
Disease Hierarchy
DIS4TOK0: Generalized resistance to thyroid hormone
DISF731E: Thyroid hormone resistance, generalized, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0008569
MESH ID
C567934
UMLS CUI
C2937288
OMIM ID
188570
MedGen ID
424846

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
THRB TTGER3L Strong Autosomal dominant [1]
THRB TTGER3L Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
THRB OTBBIRHZ Strong Autosomal dominant [1]
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References

1 Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance. Trends Endocrinol Metab. 2005 May-Jun;16(4):176-82. doi: 10.1016/j.tem.2005.03.008.
2 Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.Eur Thyroid J. 2014 Mar;3(1):7-9. doi: 10.1159/000358180. Epub 2014 Mar 4.