OMIA 001515-9615 : Colorectal hamartomatous polyposis and ganglioneuromatosis in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 158350

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

History: Also known as Cowden syndrome.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PTEN phosphatase and tensin homolog Canis lupus familiaris 26 NC_006608.3 (37853148..37913176) PTEN Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Great Dane Colorectal hamartomatous polyposis and ganglioneuromatosis PTEN insertion, gross (>20) "Duplication of PTEN" 2011 20952721

Reference


2011 Bemelmans, I., Küry, S., Albaric, O., Hordeaux, J., Bertrand, L., Nguyen, F., Abadie, J. :
Colorectal hamartomatous polyposis and ganglioneuromatosis in a dog. Vet Pathol 48:1012-5, 2011. Pubmed reference: 20952721. DOI: 10.1177/0300985810384411.

Edit History


  • Created by Frank Nicholas on 02 Nov 2010
  • Changed by Frank Nicholas on 12 Dec 2011