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