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Congenital Dyshormonogenic Hypothyroidism with Goiter (CDH) is a disorder affecting the thyroid gland, which may cause symptoms such as a swollen neck, retarded growth and heart murmurs.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 20 |
| Mutation | c.1172-1G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | CDHG |
Informations générales
Congenital Dyshormonogenic Hypothyroidism with Goiter (CDH) is a disorder affecting the thyroid gland, which may cause symptoms such as a swollen neck, retarded growth and heart murmurs. This variant of the disorder is found in the Shih-Tzu, and is caused by a recessive mutation to the gene SLC5A5.
Caractéristiques cliniques
Affected puppies present within the first few weeks of life with goiter (swelling of the thyroid gland in the throat). Further symptoms can include mild heart murmurs, cough and difficulty exercising, as well as reduced growth.
Additional Information
Références
Pubmed ID: 29777899
Year published: 2018
Omia ID: 2174
Omia variant ID: 1037