THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: THYROID HORMONE UNRESPONSIVENESS
REFETOFF SYNDROME
GRTH
GTHR
Number of Symptoms 13
OrphanetNr:
OMIM Id: 274300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000520) Proptosis 192 / 7739
2
(HPO:0000365) Hearing impairment 539 / 7739
3
(HPO:0002930) Thyroid hormone receptor defect 5 / 7739
4
(HPO:0000853) Goiter 39 / 7739
5
(HPO:0010655) Epiphyseal stippling 32 / 7739
6
(HPO:0001518) Small for gestational age 107 / 7739
7
(OMIM) Normal response to thyrotropin-releasing hormone 1 / 7739
8
(OMIM) Abnormally high PBI 1 / 7739
9
(OMIM) Elevated thyrotropin 1 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) Thyroid hormone receptor-beta gene (THR1) deletion 1 / 7739
12
(OMIM) Elevated blood thyroid hormones 1 / 7739
13
(OMIM) Clinical euthyroidism 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among 2 of 6 children of a consanguineous marriage, Refetoff et al. (1967) observed congenital deafness, stippled epiphyses, goiter, and abnormally high PBI. They postulated end-organ unresponsiveness to thyroid hormone. A later-born sib was recognized as affected in ...
Molecular genetics OMIM In affected members of the original family reported by Refetoff et al. (1967), in which GRTH segregated as an autosomal recessive, Takeda et al. (1991) identified deletion of the thyroid hormone receptor gene (190160.0003). Heterozygous members of the ...