Disorder "Thyroid hormone resistance syndrome"
Found 1 record
Disorder information
Disorder name:
Thyroid hormone resistance syndrome
Disoder ID:
OMIM entry:
Synonyms:
Thyroid hormone resistance syndrome, thyroid hormone resistance, Refetoff syndrome, Generalized thyroid hormone resistance, Thyroid hormone responsiveness defect
Definition:
An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered pituitary cell-specific activity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| THRB | THRB:rs2596623 | Expressivity | Altered pituitary cell-specific activity | Gene activity study | rs2596623T leads to pituitary over-expression of the mutant allele.more | more |
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