THYROID DYSHORMONOGENESIS 4

General Information (adopted from Orphanet):

Synonyms, Signs: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4
IODOTYROSINE DEHALOGENASE DEFICIENCY
DEIODINASE DEFICIENCY
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 4
TDH4
Number of Symptoms 11
OrphanetNr:
OMIM Id: 274800
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
(OMIM) Iodotyrosine deiodinase deficiency 1 / 7739
6
(OMIM) Continuous urinary iodine loss 1 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Iodine depletion 1 / 7739
9
(OMIM) Rapid high RAI (radioactive iodine) uptake and turnover 1 / 7739
10
(OMIM) Tyrosine loss 1 / 7739
11
(OMIM) Low T3 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The deiodinases are a group of membrane bound, NADPH-dependent, FAD-enhanced isoenzymes found in the thyroid, kidney, liver, and other organs. Patients with this defect lack the ability to deiodinate radiolabeled monoiodotyrosine (MIT) and diiodotyrosine (DIT). This results in ...
Molecular genetics OMIM In 4 patients from 3 unrelated consanguineous families with hypothyroidism and biochemical features or a clinical history suggestive of an iodotyrosine deiodinase defect, Moreno et al. (2008) identified homozygosity for 3 different mutations in the iodotyrosine deiodinase (IYD) ...