Details of Disease | DrugMAP

General Information of Disease (ID: DISZBNI8)

Disease Name	Thyroid hormone resistance, generalized, autosomal recessive
Synonyms	Refetoff syndrome; GRTH; THRB; thyroid hormone unresponsiveness; Gthr; thyroid hormone receptor BETA; thyroid hormone resistance syndrome; thyroid hormone resistance; thyroid hormone resistance, autosomal recessive; thyroid hormone resistance, generalized, autosomal recessive
Definition	A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.
Disease Hierarchy	DIS4TOK0: Generalized resistance to thyroid hormone DISZBNI8: Thyroid hormone resistance, generalized, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0010131 MESH ID C567936 UMLS CUI C3489796 OMIM ID 274300 MedGen ID 483749

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	Limited	Autosomal recessive	[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	Limited	Autosomal recessive	[1]
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References

1	Nomenclature of thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom. J Clin Endocrinol Metab. 1994 Apr;78(4):990-3. doi: 10.1210/jcem.78.4.8157732.
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.