Lundehund Syndrome
        
            Breeds
        
    
    
                
                Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful  for these breeds 
                
            
            
        
        
        
            GTPs
        
    
    
General
        
            Disease Name
        
    
    
            Lundehund Syndrome
            
        
        
        
            OMIA
        
    
    
            2031
            
        
        
        
            Gene Name
        
    
    
            LEPREL1
            
        
        
        
            Mutation
        
    
    
            g.139212C>G
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Lundehund syndrome (LS) also known as the Lundehund intestinal syndrome is a gastrointestinal disorder.The Lundehund syndrome comprises several disorders together causing gastrointestinal disturbance, inflamatory bowel disease, and malabsorption. Symptoms include: diarrhea, vomiting, weight loss, edema and apathy often accompanied with decreased concentrations of albumin and globulin in blood profile. Age of onset 2-11 years of age.The condition can eventually lead to lymphoma or cancer of the intestines or stomach.
            
        
        
        
            Details 2
        
    
    
            Lundehund syndrome (LS) also known as the Lundehund intestinal syndrome is a gastrointestinal disorder.The Lundehund syndrome comprises several disorders together: protein-losing enteropathy (PLE), intestinal lymphangiectasia, gastrointestinal disturbance, inflammatory bowel disease and malabsorption. Other signs include: Clinical signs include diarrhea, vomiting, loss of appetite, weight loss, edema, swollen abdomen and/or swollen legs, low serum protein, especially albumin and apathy. Low levels of albumin are sometimes the only sign of the disorder. Hypoalbuminemia is sometimes accompanied with hyperglobulinaemia, reduced levels of fructosamines and vitamin B, hypo- or hypercalcemia, as well as high levels of serum folate and alanine aminotransferase. The condition can eventually lead to lymphoma or cancer of the intestines or stomach. Age of onset 2-11 years of age. . Metzger et al. (2016) stated "the Lundehund harbors a breed disposition for a syndrome comprising particular features of protein-losing enteropathy (PLE), intestinal lymphangiectasia, gastrointestinal disturbance, inflammatory bowel disease and malabsorption designated as Lundehund syndrome (LS) . . . . Clinical signs are diarrhea, vomiting, weight loss, edema and apathy often accompanied with decreased concentrations of albumin and globulin in blood profile"
            
        
        
        
            Published
        
    
    
            Metzger, J., Pfahler, S., Distl, O. : Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome. BMC Genomics 17:535, 2016. Pubmed reference: 27485430. DOI: 10.1186/s12864-016-2844-6.
            
        
        
        
            Body/System/Process
        
    
    
            Gastrointestinal
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            Lundhund
            
        
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