DEIODINASE, IODOTHYRONINE, TYPE I

General Information (adopted from Orphanet):

Synonyms, Signs: THYROXINE DEIODINASE, TYPE I
TXDI1 HYPERTHYROXINEMIA DUE TO DECREASED PERIPHERAL CONVERSION OF T4, INCLUDED
5-PRIME-&#64
DEIODINASE DEFICIENCY, GENERALIZED, CAUSING EUTHYROID HYPERTHYROXINEMIA, INCLUDED
DIO1
Number of Symptoms 7
OrphanetNr:
OMIM Id: 147892
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0008247) Euthyroid hyperthyroxinemia 3 / 7739
2
 (HPO:0000853) Goiter 39 / 7739
3
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
 (OMIM) Normal serum triiodothyronine 1 / 7739
5
 (OMIM) Elevated serum thyroxine 1 / 7739
6
 (OMIM) Type I iodothyronine deiodinase defect 1 / 7739
7
 (OMIM) Small diffuse goiter 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: