Congenital Hypothyroidism with Goiter (CHG) – Tenterfield Terrier
Kodas: H485
Short description
Congenital hypothyroidism with goiter (CHG) causes developmental delay and a constelation of signs collectively known as cretinism.
General information
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. Hereditary CHG is an autosomal recessive disorder. Thyroid peroxidase is a multi-functional enzyme required for thyroid hormone synthesis.
Specifications
| Breeds | |
|---|---|
| Gene | TPO |
| Chromosome | 17 |
| Mutation | c.1777C>T |
| Organ | Endocrine glands |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CHG |
Clinical features
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.
References
Pubmed ID: 23113744
Year published: 2012
Omia ID: 536
Omia variant ID:
Turnaround information
- 10 working days