THYROID DYSHORMONOGENESIS 1

General Information (adopted from Orphanet):

Synonyms, Signs: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1
TDH1
Number of Symptoms 13
OrphanetNr:
OMIM Id: 274400
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:0000158) Macroglossia 119 / 7739
2
(HPO:0001254) Lethargy 104 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(HPO:0000821) Hypothyroidism 141 / 7739
5
(HPO:0000853) Goiter 39 / 7739
6
(HPO:0001537) Umbilical hernia 206 / 7739
7
(HPO:0002019) Constipation 194 / 7739
8
(HPO:0001539) Omphalocele 102 / 7739
9
(HPO:0001510) Growth delay 295 / 7739
10
(HPO:0000958) Dry skin 152 / 7739
11
(OMIM) Thyroid iodine accumulation defect 1 / 7739
12
(OMIM) Low RAI (radioactive iodine) uptake 1 / 7739
13
(OMIM) Thyroid nodules, hyperplastic and adenomatous 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). Dyshormonogenesis can be caused by recessive defects at any of the ...
Clinical Description OMIM A defect in thyroid hormonogenesis is characterized by an inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland. The defect is also found in the salivary gland ...
Molecular genetics OMIM In a patient with hypothyroidism who was suspected of having an iodide transport defect, Fujiwara et al. (1997) identified homozygosity for an A to C transversion in the SLC5A5 gene, resulting in a thr354-to-pro substitution (601843.0001).