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Congenital hypothyroidism with goiter (CHG) causes developmental delay and a constelation of signs collectively known as cretinism.
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Spezifikationen
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tupfer, EDTA Blut, Heparin Blut, Sperma, Gewebe |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Allgemeine Informationen
Congenital hypothyroidism with goiter (CHG) causes developmental delay and a constelation of signs collectively known as cretinism. The disease is caused by a mutation in the thyroid peroxidase (TPO) gene. Inherited CHG is an autosomal recessive disorder. Thyroid peroxidase is a multi-functional enzyme required for thyroid hormone synthesis.
Klinische Merkmale
Clinical signs include delayed opening of the eyes and ear canals, poor nursing, inactivity, unresponsiveness to environmental stimuli, macroglossia and hypomyelination of the central nervous system.
Zusätzliche Information
Verweise
Pubmed ID: 23113744
Omia ID: 536
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