Selective pituitary resistance to thyroid hormone

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION
PRTH
Number of Symptoms 6
OrphanetNr: 165994
OMIM Id: 145650
ICD-10: E05.8
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: Rare hyperthyroidism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002925) Thyroid-stimulating hormone excess 12 / 7739
2
(HPO:0002930) Thyroid hormone receptor defect 5 / 7739
3
(HPO:0000836) Hyperthyroidism 25 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Selective pituitary insensitivity to thyroid hormone 1 / 7739
6
(OMIM) Increased pituitary thyroid-stimulating hormone (TSH) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 3 generations of a family, Rosler et al. (1982) found 6 females who had hyperthyroidism due to chronic overstimulation of the thyroid by pituitary thyroid-stimulating hormone (TSH). Complete remission was achieved and maintained with continuing therapy with ...
Molecular genetics OMIM Geffner et al. (1993) described an arg311-to-his mutation in the thyroid hormone receptor beta gene (THRB; 190160.0018) in a patient with PRTH, but the mutation did not fully explain the phenotype inasmuch as the father and a half ...