Thyroid dyshormonogenesis
From Infogalactic: the planetary knowledge core
| Thyroid dyshormonogenesis | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | E07.1 |
| ICD-9-CM | 246.1 |
| DiseasesDB | 9771 |
| Patient UK | Thyroid dyshormonogenesis |
Thyroid dyshormonogenesis (or dyshormogenetic goiter) is a rare condition due to genetic defects in the synthesis of thyroid hormones.[1][2]
Patients develop hypothyroidism with a goitre.
Types
One particular familial form is associated with sensorineural deafness (Pendred's syndrome).
OMIM includes the following:
| Type | OMIM | Gene |
|---|---|---|
| Type 1 | 274400 | SLC5A5 |
| Type 2A | 274500 | TPO |
| Type 2B | 274600 (Pendred) | SLC26A4 |
| Type 3 | 274700 | ? |
| Type 4 | 274800 | IYD |
| Type 5 | 274900 | ? |
| Type 6 | 607200 | DUOX2 |
References
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