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Pyruvate Kinase Deficiency
Breed: Pug
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these 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
Pyruvate Kinase Deficiency
OMIA
844
Gene Name
PKLR
Mutation
c.799C>T
Mutation 2
c.848T>C
Mutation 3
c.1431_1432insAAGACC
Mutation 4
c.994G>A
Mutation 5
c.433delC
Mutation Notes
Beagle c.994G>A; Labrador Retriever c.799C>T; pug c.848T>C; WHWT c.1431_1432insAAGACC
Test Type
Genetic Disease/Disorder
Details
Pyruvate Kinase Deficiency, now identified in a number of breeds, leads to chronic severe hemolytic anemia, weakness, and hepatosplenomegaly causing bone marrow and liver failure in mature animals.
Details 2
Pyruvate kinase (PK) deficiency is an autosomal, recessive, inherited disease of Basenjis that causes chronic, regenerative, hemolytic anemia. Diagnostic methods currently used to identify carrier animals rely on measurement of erythrocyte PK activity and frequently give equivocal results. A genetic test incorporating polymerase chain reaction amplification of genomic DNA and restriction fragment length polymorphism has been developed to determine the PK genotype of Basenjis. (Whitney et al, 1995)
Published
Whitney, K.M., Goodman, S.A., Bailey, E.M., Lothrop, C.D. : The molecular basis of canine pyruvate kinase deficiency Experimental Hematology 22:866-874, 1994. Pubmed reference: 7520391.
Published 2
Skelly, B.J., Wallace, M., Rajpurohit, Y.R., Wang, P., Giger, U. : Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency American Journal of Veterinary Research 60:1169-1172, 1999. Pubmed reference: 10490091., Inal Gultekin, G., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O. and Giger, U. (2012), Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary Hemochromatosis in Dogs. Journal of Veterinary Internal Medicine, 26: 935?944. doi: 10.1111/j.1939-1676.2012.00958.x
Published 3
Inal Gultekin, G., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O. and Giger, U. (2012), Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary Hemochromatosis in Dogs. Journal of Veterinary Internal Medicine, 26: 935?944. doi: 10.1111/j.1939-1676.2012.00958.x
Published 4
Whitney, K.M., Lothrop, C.D. : Genetic test for pyruvate kinase deficiency of basenjis Journal of the American Veterinary Medical Association 207:918-921, 1995. Pubmed reference: 7559024.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Basenji, Beagle, Cairn Terrier, West Highland White Terrier
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.848T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Inal Gultekin, G., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O. and Giger, U. (2012), Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary H
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
FCI Number
253
GTP Breed
Pug
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
PKLR
Mutation
c.848T>C
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.848T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gultekin GI, K Raj, P Foureman, S Lehman, K Manhart, O Abdulmalik, U Giger (2012) Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs. Journal of Veterinary Internal Medicine 26(4):935-944
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
FCI Number
253
GTP Breed
Pug
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
Point Mutation
Nature of test
mutation test
FCI Number
253
GTP Breed
Pug
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.848T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Inal Gultekin, G., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O. and Giger, U. (2012), Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary H
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
FCI Number
253
GTP Breed
Pug
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
PK deficit
Gene Name
PKLR
Mutation
c.848T>C
Mutation Comment
g.42268681T>C
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
PKLR
Mutation
c.848T>C
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.848T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Inal Gultekin, G., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O. and Giger, U. (2012), Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary H
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
FCI Number
253
GTP Breed
Pug
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
PKLR
Mutation
c.848T>C
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Pyruvate Kinase Deficiency (Pug Type)
Gene Name
PKLR
Mutation
c.848T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Inal Gultekin, G., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O. and Giger, U. (2012), Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary H
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
FCI Number
253
GTP Breed
Pug
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
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