Categories: Digestive / alimentary phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610341 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2016

Species-specific symbol: LS

Inheritance: Metzger et al. (2016): " A complex segregation analysis revealed a recessive major gene model as the most likely mode of inheritance with the lowest −2 log-likelihood at 52.6".

Mapping: Metzger et al. (2016): "Comprehensive analysis of bead chip and whole-genome sequencing data for LS in the Lundehund resulted in a genome-wide association signal on CFA 34 and LS-specific runs of homozygosity (ROH) in this region."

Molecular basis: Metzger et al. (2016): "Filtering analysis for variants with predicted high or moderate effects revealed a missense mutation in LEPREL1 [also known as P3H2] 1.2 Mb proximal to the region of the genome-wide association, which was shown to be significantly associated with LS."

Clinical features: Metzger et al. (2016): "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"

Breed: Lundehund (Dog) (VBO_0200838).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: