THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: THYROID HORMONE UNRESPONSIVENESS
HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
GRTH
GTHR
Number of Symptoms 8
OrphanetNr:
OMIM Id: 188570
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000750) Delayed speech and language development 197 / 7739
2
(HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
3
(HPO:0000853) Goiter 39 / 7739
4
(HPO:0002930) Thyroid hormone receptor defect 5 / 7739
5
(OMIM) Normal or slightly increased serum thyrotropin (TSH) 1 / 7739
6
(OMIM) Normal response to administration of thyrotropin-releasing hormone (TRH) and L-triiodothyronine 1 / 7739
7
(OMIM) Markedly increased serum thyroid hormone levels 1 / 7739
8
(OMIM) Clinically euthyroid 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brooks et al. (1981) found thyroid hormone resistance in 8 persons in 4 generations of a kindred. All were clinically euthyroid but all had goiters and markedly increased serum thyroid hormone levels. Serum thyrotropin (TSH) levels were normal ...
Molecular genetics OMIM In a father and son with generalized resistance to thyroid hormone, Sakurai et al. (1989) identified heterozygosity for a missense mutation in the THRB gene (190160.0001).

In affected members of a family with GRTH, originally reported ...