Dog (Canis lupus familiaris) โ Thrombopathia (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Dog (Canis lupus familiaris)Disorder: ThrombopathiaSummary: Boudreaux et al. (2007) reported likely causal variants in Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI) for Landseer, Eskimo Spitz and Basset Hound breeds. Based on NCBI information the gene name was initially listed as RASGRP1 gene in OMIA. A recent BLAST search of the published data identified that the correct gene name is RASGRP2 and information relating to the RASGRP2 variants in these breeds have been moved to: OMIA 002433-9615 : Thrombopathia, RASGRP2-related in Canis lupus familiaris [22/01/2022]
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1989. Absent platelet aggregation with normal fibrinogen binding in Basset Hound hereditary thrombopathy. Thromb Haemost โ PubMed:PMID2512673 โ OMIA Phene_Article / Article
- 1993. Buccal mucosa bleeding time is prolonged in canine models of primary hemostatic disorders. Thromb Haemost โ PubMed:PMID8128434 โ OMIA Phene_Article / Article
- 1994. Identification of an intrinsic platelet function defect in Spitz dogs. J Vet Intern Med โ PubMed:PMID8046682 | DOI:10.1111/j.1939-1676.1994.tb03204.x โ OMIA Phene_Article / Article
- 1995. Inherited platelet delta-storage pool disease in dogs causing severe bleeding - an animal model for a specific adp deficiency. Thrombosis & Haemostasis โ OMIA Phene_Article / Article
- 2007. Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. Transl Res โ PubMed:PMID17656327 | DOI:10.1016/j.trsl.2007.03.006 โ OMIA Phene_Article / Article
- 2008. Characteristics, diagnosis, and treatment of inherited platelet disorders in mammals. J Am Vet Med Assoc โ PubMed:PMID18922051 | DOI:10.2460/javma.233.8.1251 โ OMIA Phene_Article / Article
- 1979. An inherited platelet function defect in Basset hounds. Can Vet J โ PubMed:PMID509382 โ OMIA Phene_Article / Article
- 1986. Defective platelet-fibrinogen interaction in hereditary canine thrombopathia. Blood โ PubMed:PMID3011147 โ OMIA Phene_Article / Article
- 1988. Hereditary canine thrombopathia. Vet Clin North Am Small Anim Pract โ PubMed:PMID3258696 โ OMIA Phene_Article / Article
- 2012. Inherited platelet disorders. J Vet Emerg Crit Care (San Antonio) โ PubMed:PMID22316339 | DOI:10.1111/j.1476-4431.2011.00702.x โ OMIA Phene_Article / Article
- 1985. Abnormal release of storage pool adenine nucleotides from platelets of dogs affected with basset hound hereditary thrombopathy. Thromb Res โ PubMed:PMID3983903 | DOI:10.1016/0049-3848(85)90033-7 โ OMIA Phene_Article / Article
- 2018. Assembly and analysis of unmapped genome sequence reads reveal novel sequence and variation in dogs. Sci Rep โ PubMed:PMID30022108 | DOI:10.1038/s41598-018-29190-3 โ OMIA Phene_Article / Article
- (1 additional references in OMIA)
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1989. Absent platelet aggregation with normal fibrinogen binding in Basset Hound hereditary thrombopathy. Thromb Haemost โ PubMed:PMID2512673 โ OMIA Phene_Article / Article
- 1993. Buccal mucosa bleeding time is prolonged in canine models of primary hemostatic disorders. Thromb Haemost โ PubMed:PMID8128434 โ OMIA Phene_Article / Article
- 1994. Identification of an intrinsic platelet function defect in Spitz dogs. J Vet Intern Med โ PubMed:PMID8046682 | DOI:10.1111/j.1939-1676.1994.tb03204.x โ OMIA Phene_Article / Article
- 1995. Inherited platelet delta-storage pool disease in dogs causing severe bleeding - an animal model for a specific adp deficiency. Thrombosis & Haemostasis โ OMIA Phene_Article / Article
- 2007. Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. Transl Res โ PubMed:PMID17656327 | DOI:10.1016/j.trsl.2007.03.006 โ OMIA Phene_Article / Article
- 2008. Characteristics, diagnosis, and treatment of inherited platelet disorders in mammals. J Am Vet Med Assoc โ PubMed:PMID18922051 | DOI:10.2460/javma.233.8.1251 โ OMIA Phene_Article / Article
- 1979. An inherited platelet function defect in Basset hounds. Can Vet J โ PubMed:PMID509382 โ OMIA Phene_Article / Article
- 1986. Defective platelet-fibrinogen interaction in hereditary canine thrombopathia. Blood โ PubMed:PMID3011147 โ OMIA Phene_Article / Article
- 1988. Hereditary canine thrombopathia. Vet Clin North Am Small Anim Pract โ PubMed:PMID3258696 โ OMIA Phene_Article / Article
- 2012. Inherited platelet disorders. J Vet Emerg Crit Care (San Antonio) โ PubMed:PMID22316339 | DOI:10.1111/j.1476-4431.2011.00702.x โ OMIA Phene_Article / Article
- 1985. Abnormal release of storage pool adenine nucleotides from platelets of dogs affected with basset hound hereditary thrombopathy. Thromb Res โ PubMed:PMID3983903 | DOI:10.1016/0049-3848(85)90033-7 โ OMIA Phene_Article / Article
- 2018. Assembly and analysis of unmapped genome sequence reads reveal novel sequence and variation in dogs. Sci Rep โ PubMed:PMID30022108 | DOI:10.1038/s41598-018-29190-3 โ OMIA Phene_Article / Article
- (1 additional references in OMIA)