THYROID DYSHORMONOGENESIS 3

General Information (adopted from Orphanet):

Synonyms, Signs: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3
TDH3
Number of Symptoms 12
OrphanetNr:
OMIM Id: 274700
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:0001249) Intellectual disability 1089 / 7739
2
(HPO:0008223) Compensated hypothyroidism 3 / 7739
3
(HPO:0000821) Hypothyroidism 141 / 7739
4
(HPO:0000853) Goiter 39 / 7739
5
(HPO:0012559) Increased T3/T4 ratio 2 / 7739
6
(HPO:0002890) Thyroid carcinoma 5 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Thyroid hormone coupling defect 1 / 7739
9
(MedDRA:10066474) Thyroid cancer 6 / 7739
10
(OMIM) High FT3/FT4 ratio 1 / 7739
11
(OMIM) Excessive iodide trapping 1 / 7739
12
(OMIM) Euthyroid 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Kanou et al. (2007) reviewed characteristics of thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. This form of thyroid dyshormonogenesis has an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive manner, the ...
Clinical Description OMIM Riddick et al. (1969) reported 3 goitrous members of a sibship of 4. These patients had hypothyroidism or compensated hypothyroidism, and had normal or high uptake of radioiodine; biochemical measurements on removed thyroid tissue showed absence of thyroglobulin ...
Molecular genetics OMIM Ieiri et al. (1991) gave the first report of individuals with documented TG gene mutations. The index patient and 2 of her 5 sibs presented with hypothyroidism, congenital goiter, and a marked impairment of TG synthesis. Analysis of ...