Warburg Micro Syndrome 1 (WARBM1)
Kodas: H696
Short description
Warburg Micro Syndrome, type 1 (WARBM1) is a form of polyneuropathy, a severe degenerative nerve condition that causes vision problems, an altered voice, and lack of coordination.
General information
Warburg Micro Syndrome, type 1 (WARBM1) is a form of polyneuropathy, a severe degenerative nerve condition that causes vision problems, an altered voice, and lack of coordination. The onset starts at about four months of age, and affected dogs typically need to be euthanized on humane grounds within the first year. The disorder is caused by a recessive mutation to the gene RAB3GAP1, and is found in the Alaskan Husky (this test), and also the Black Russian Terrier and Rottweiler.
Specifications
| Breeds | |
|---|---|
| Gene | RAB3GAP1 |
| Chromosome | 19 |
| Mutation | c.614_615insLN864704:g.123_340 |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | ALPP |
Clinical features
Onset of WARBM1 starts at 4 to 5 months of age with visual problems. Later, affected dogs experience paralysis of the larynx (resulting in an altered voice and vomiting), progressing to severe ataxia (loss of coordination) with an abnormal gait. Other symptoms include micropthalmia (abnormally small eyeballs), strabismus (lazy eyes), and cataracts .
References
Pubmed ID: 26596647
Year published: 2015
Omia ID: 1970
Omia variant ID:
Turnaround information
- 10 working days