THYROID DYSHORMONOGENESIS 6

General Information (adopted from Orphanet):

Synonyms, Signs: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 6
TDH6
Number of Symptoms 7
OrphanetNr:
OMIM Id: 607200
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:0000821) Hypothyroidism 141 / 7739
2
(HPO:0000851) Congenital hypothyroidism 16 / 7739
3
(OMIM) Elevated TSH 3 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Low T3 2 / 7739
6
(OMIM) Iodide organification defect 1 / 7739
7
(OMIM) Increased RAI (radioactive iodine) uptake 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Moreno et al. (2002) described a patient with permanent and severe thyroid hormone deficiency and a complete iodide organification defect who was one of a group of 9 identified through a screening program for congenital hypothyroidism. At screening, ...
Molecular genetics OMIM Moreno et al. (2002) analyzed DNA of 9 patients with idiopathic congenital hypothyroidism and an iodide organification defect for mutations in the genes for DUOX1 (606758) and DUOX2. In a patient with permanent and severe thyroid hormone deficiency ...