Congenital Methemoglobinemia – German Spitz (Pomeranian)
Kodas: H908
Short description
Congenital Methaemoglobinaemia is a disorder caused by an excess of methaemoglobin in the blood, which can cause lethargy, shallow breathing and increased heart rate.
General information
Congenital Methaemoglobinaemia is a disorder caused by an excess of methaemoglobin in the blood, which can cause lethargy, shallow breathing and increased heart rate. This variant, found in the German Spitz (Pomeranian), is caused by a recessive mutation to the CYB5R3 gene. Another variant has been observed in a mixed-breed dog.
Specifications
| Breeds | |
|---|---|
| Gene | CYB5R3 |
| Chromosome | 10 |
| Mutation | c.580A>C |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Observed symptoms include coughing, shortness of breath, exercise intolerance, increased heart rate and cyanosis (blue coloration) of the membranes of the mouth and genitals. Affected dogs may also respond aggressively when touched on the head or neck. Increased methaemoglobin levels can be confirmed via blood analysis.
References
Pubmed ID: 29356095
Year published: 2018
Omia ID: 2131
Omia variant ID:
Turnaround information
- 10 working days