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H726

Recurrent inflammatory pulmonary disease in the Rough Collie is a lung disorder similar to other known forms of Primary Ciliary Dyskinesia (PCD), causing bronchopneumonia in affected dogs.

10 working days

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Caractéristiques

Breeds

,

Gene

Chromosome

11

Mutation

c.2717_2720delACAG

Mode of Inheritance

Autosomique récessif

Organ

Specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Also known as

IPD

Informations générales

Recurrent inflammatory pulmonary disease in the Rough Collie is a lung disorder similar to other known forms of Primary Ciliary Dyskinesia (PCD), causing bronchopneumonia in affected dogs. The disease in the Rough Collie is caused by a recessive mutation to the AKNA gene.

Caractéristiques cliniques

Symptoms of this disorder start within a few days of birth, and include loud and shallow breathing, coughing, yellowish nasal discharge, fever and foamy vomit. The disease can be effectively treated for a time with antibiotics and secretolytics; however, relapses are likely after treatment ends.

Additional Information

Références

Pubmed ID: 31357536

Year published: 2019

Omia ID: 2205

Omia variant ID: 1094

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