Resistance to thyroid hormone
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
syndrome
|
| gptkbp:affects |
thyroid hormone receptors
|
| gptkbp:alsoKnownAs |
Refetoff syndrome
|
| gptkbp:biochemicalFinding |
elevated T3 and T4
normal or elevated TSH |
| gptkbp:cause |
mutation in THRB gene
|
| gptkbp:diagnosedBy |
genetic testing
thyroid function tests |
| gptkbp:firstDescribed |
1967
Samuel Refetoff |
| https://www.w3.org/2000/01/rdf-schema#label |
Resistance to thyroid hormone
|
| gptkbp:ICD-10_code |
E07.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D013964
|
| gptkbp:OMIM |
188570
|
| gptkbp:prevalence |
rare
|
| gptkbp:specialty |
endocrinology
|
| gptkbp:symptom |
gptkb:attention_deficit_hyperactivity_disorder
tachycardia goiter |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:Thyroid_hormone_resistance
|
| gptkbp:bfsLayer |
8
|