THYROID DYSHORMONOGENESIS 5

General Information (adopted from Orphanet):

Synonyms, Signs: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 5
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5
TDH5
Number of Symptoms 9
OrphanetNr:
OMIM Id: 274900
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:0000821) Hypothyroidism 141 / 7739
3
(HPO:0000853) Goiter 39 / 7739
4
(HPO:0001510) Growth delay 295 / 7739
5
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
6
(OMIM) Absent or abnormal thyroglobulin 1 / 7739
7
(OMIM) Thyroglobulin synthesis defect 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) Low or low-normal serum T4 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zamproni et al. (2008) described a female patient born to nonconsanguineous parents of Chinese origin who was diagnosed with congenital hypothyroidism neonatally using blood spot TSH (see 188540) screening (48 mU/l; reference range less than 20 mU/l). Ultrasonographic ...
Molecular genetics OMIM Zamproni et al. (2008) detected homozygosity for a nonsense mutation in the DUOXA2 gene (Y246X; 612772.0001) in a 7-year-old patient of Chinese origin with congenital hypothyroidism. Parents and sibs of the proband, all with normal thyroid function, were ...
Population genetics OMIM Genotyping of unrelated control individuals revealed 1 heterozygous carrier of the Y246X mutation among 92 Chinese screened, all from the Shanghai area; the mutation was not detected among 178 Caucasian alleles or 82 Japanese alleles. Assuming Hardy-Weinberg equilibrium, ...