Ectodermal Dysplasia XHED, XLED
            Breed: Giant Schnauzer/ black
        
        
        
        
    
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  for these 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  in this breed 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Ectodermal Dysplasia XHED, XLED
            
        
        
        
            OMIA
        
    
    
            323
            
        
        
        
            Gene Name
        
    
    
            FOXI3
            
        
        
        
            Gene Name 2
        
    
    
            EDA
            
        
        
        
            Mutation
        
    
    
            c.910-1G>A
            
        
        
        
            Mutation 2
        
    
    
            c.57_63dup7
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Ectodermal Dysplasia XHED, XLED causes dogs to have varying degrees of hairlessness. Most often, almost the entire body is affected. but some breeds also have tufts of hair on the limbs and head. Other effects (severity can vary signifigantly) can include abnormal teeth, missing teeth, long and/or brittle toenails. Age of onset is from birth, with any non-hair related effects becoming apparent with age. While considered a desirable trait for some breeds, breeders should be aware that neonatal deaths are more common in hairless pups than in their normal littermates. This risk increases when breeding two hairless dogs together - often resulting in smaller litter sizes.
            
        
        
        
            Details 2
        
    
    
            Ectodermal Dysplasia causes dogs to have varying degrees of hairlessness. Most often, almost the entire body is affected. but some breeds also have tufts of hair on the limbs and head. Other effects (severity can vary signifigantly) can include abnormal teeth, missing teeth, long and/or brittle toenails. Age of onset is from birth, with any non-hair related effects becoming apparent with age. While considered a desirable trait for some breeds, breeders should be aware that neonatal deaths are more common in hairless pups than in their normal littermates. This risk increases when breeding two hairless dogs together - often resulting in smaller litter sizes.
            
        
        
        
            Published
        
    
    
            Drögemüller, C., Karlsson, E.K., Hytönen, M.K., Perloski, M., Dolf, G., Sainio, K., Lohi, H., Lindblad-Toh, K., Leeb, T. : A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science 321:1462, 2008. Pubmed reference: 18787161. DOI: 10.1126/science.1162525.
            
        
        
        
            Published 2
        
    
    
            Wiener, D.J., Gurtner, C., Panakova, L., Mausberg, T.B., Müller, E.J., Drögemüller, C., Leeb, T., Welle, M.M. : Clinical and histological characterization of hair coat and glandular tissue of Chinese crested dogs. Vet Dermatol 24:274-e62, 2013. Pubmed reference: 23413772. DOI: 10.1111/vde.12008.
            
        
        
        
            Published 3
        
    
    
            Kupczik, K., Cagan, A., Brauer, S., Fischer, M.S. : The dental phenotype of hairless dogs with FOXI3 haploinsufficiency. Sci Rep 7:5459, 2017. Pubmed reference: 28710361. DOI: 10.1038/s41598-017-05764-5.
            
        
        
        
            Body/System/Process
        
    
    
            Skin
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            XR
            
        
        
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