OMIA:002031-9615 : Lundehund syndrome in Canis lupus familiaris
Categories: Digestive / alimentary phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 610341 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: 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"
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|P3H2||prolyl 3-hydroxylase 2||Canis lupus familiaris||34||NC_051838.1 (22119559..21969192)||P3H2||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|103||Lundehund||Lundehund syndrome||P3H2||missense||Naturally occurring variant||CanFam3.1||34||g.22046092C>G||c.1849G>C||p.(E617Q)||XM_535843.6; XP_535843.2||2016||27485430|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2016||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.|
|2015||Pfahler, S., Distl, O. :|
|Effective population size, extended linkage disequilibrium and signatures of selection in the rare dog breed lundehund. PLoS One 10:e0122680, 2015. Pubmed reference: 25860808 . DOI: 10.1371/journal.pone.0122680.|
|1994||Kolbjørnsen, O., Press, C.M., Landsverk, T. :|
|Gastropathies in the Lundehund. I. Gastritis and gastric neoplasia associated with intestinal lymphangiectasia. APMIS 102:647-61, 1994. Pubmed reference: 7946268 .|
|1977||Flesja, K., Yri, T. :|
|Protein losing enteropathy in the Lundehund Journal of Small Animal Practice 18:11-23, 1977. Pubmed reference: 853728 .|
- Created by Frank Nicholas on 12 Aug 2016
- Changed by Frank Nicholas on 12 Aug 2016
- Changed by Frank Nicholas on 12 Jun 2020
- Changed by Imke Tammen2 on 22 Jan 2022