thyroid hormone resistance syndrome
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
medical condition
|
| gptkbp:affects |
thyroid hormone receptors
|
| gptkbp:alsoKnownAs |
resistance to thyroid hormone
|
| gptkbp:causedBy |
mutations in THRA gene
mutations in THRB gene |
| gptkbp:diagnosedBy |
elevated thyroid hormones with non-suppressed TSH
|
| gptkbp:firstDescribed |
1967
|
| https://www.w3.org/2000/01/rdf-schema#label |
thyroid hormone resistance syndrome
|
| 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 delayed bone age goiter |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:THR5
|
| gptkbp:bfsLayer |
7
|