Thyroid hormone resistance

GPTKB entity

Statements (24)
Predicate Object
gptkbp:instanceOf medical condition
gptkbp:affects thyroid hormone receptors
gptkbp:alsoKnownAs gptkb:Resistance_to_thyroid_hormone
gptkbp:causedBy mutations in the THRA gene
mutations in the THRB gene
gptkbp:characterizedBy elevated thyroid hormone levels with non-suppressed TSH
reduced tissue responsiveness to thyroid hormones
gptkbp:diagnosedBy genetic testing
thyroid function tests
gptkbp:firstDescribed 1967
https://www.w3.org/2000/01/rdf-schema#label Thyroid hormone resistance
gptkbp:ICD-10_code E07.1
gptkbp:inheritance autosomal dominant
gptkbp:MeSH_ID D013964
gptkbp:OMIM 188570
gptkbp:prevalence rare
gptkbp:symptom gptkb:attention_deficit_hyperactivity_disorder
hearing loss
tachycardia
goiter
gptkbp:treatment symptomatic management
beta blockers for tachycardia
gptkbp:bfsParent gptkb:TRD
gptkbp:bfsLayer 7