Jump to content
International Collaboration For Dog Health And Welfare. Join Us.

Cystinuria Type I-A

Breed: Newfoundland

Generic Phene Data

General

Disease Name
Cystinuria Type I-A
OMIA
256
Gene Name
SLC3A1
Gene Name 2
SLC7A9
Mutation
c.350delG
Mutation 2
c.586C>T
Mutation 3
c.1095_1100del
Mutation 4
c.574A>g; c.2091A>G
Mutation 6
c.649G>A
OMIM
220100
Disease Code
CYS1a
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Cystine uroliths, Cystinuria Type 1
Details
Cystinuria is disorder that affects a dog's ability to filter cystine out of urine. Cystine is generally insoluble in the acidic conditions of canine urine, allowing it to crystallize and form caliculi, also known as stones. Not every dog that has the mutation responsible for Cystinuria will exhibit symptoms. Stones causing inflammation and blockage are often more common in males, due to their long, narrow urethra. Females exhibit symptoms much less frequently and may never show signs of disease. In many breeds, symptoms are first noted at around 4-5 years. However, Newfoundlands carry a more severe form that other breeds, with problems developing and noticed at 6-12 months. Newfoundlands are much more likely to experience recurring urethral blockages, and require surgical intervention. Please note that the tests, and type of inheritance, and mutations for Cystinuria vary by breed. It is important to choose a test appropriate for your breed/type.
Details 2
Presenting signs include recurrent cystitis, hematuria, and stranguria. Calculi may become lodged in the urinary bladder, urethra, or kidney, causing partial or complete urinary blockage. A relatively earlier age of onset has been identified in Newfoundlands compared to other breeds that develop cystinuria. Diagnosis is achieved by identifying characteristically hexagonal cystine crystals in urine sediment, or cystine calculi in stone analysis. Metabolic screening tests on urine (cyanide nitroprusside test, amino acid chromatography or amino acid quantification) can detect cystinuria before or after clinical onset. Since cystine easily precipitates in acidic urine to form uroliths, treatment includes alkalinization of the urine, high fluid intake, and drugs that increase cystine solubility (Harnevik et al., 2006)
Published
Henthorn, P.S., Liu, J.L., Gidalevich, T., Fang, J.K., Casal, M.L., Patterson, D.F., Giger, U. : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs Human Genetics 107:295-303, 2000. Pubmed reference: 11129328.
Published 2
Brons, A.K., Henthorn, P.S., Raj, K., Fitzgerald, C.A., Liu, J., Sewell, A.C., Giger, U. : SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med 27:1400-8, 2013. Pubmed reference: 24001348. DOI: 10.1111/jvim.12176.
Body/System/Process
Renal
Inheritance
AR
Gene Name Text
solute carrier family 3 (amino acid transporter heavy chain), member 1

Breed Specific Data

Animal Genetics Inc

Link to GTP
Breed
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test

Antagene

Link to GTP
GTP
Breed
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Henthorn, P.S., Liu, J.L., Gidalevich, T., Fang, J.K., Casal, M.L., Patterson, D.F., Giger, U. : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
Inheritance
AR

CAG GmbH Center for Animal Genetics

Link to GTP
Breed
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Henthorn, P.S., Liu, J.L., Gidalevich, T., Fang, J.K., Casal, M.L., Patterson, D.F., Giger, U. : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
Inheritance
AR

DNA My Dog

Link to GTP
Breed
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Henthorn, P.S., Liu, J.L., Gidalevich, T., Fang, J.K., Casal, M.L., Patterson, D.F., Giger, U. : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
Inheritance
AR

Embark

Link to GTP
GTP
Breed
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Henthorn, P.S., Liu, J.L., Gidalevich, T., Fang, J.K., Casal, M.L., Patterson, D.F., Giger, U. : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
Inheritance
AR

EVG Diagnostics

Link to GTP
Breed
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Hum Genet (2000) 107 :295?303

VetGen LLC

Link to GTP
Breed
Gene Name
SLC3A1
Mutation
c.856C>T

Genoscoper Laboratories Oy

Link to GTP
Breed
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Henthorn, P.S., Liu, J.L., Gidalevich, T., Fang, J.K., Casal, M.L., Patterson, D.F., Giger, U. : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a). Urolithiasis, formation of calculi (crystals, stones) in the urinary tract. Obstruction of the urinary tract and recurrent cystitis
Inheritance
AR

Laboklin Gmbh & Co. KG

Link to GTP
Breed
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Henthorn, P.S., Liu, J.L., Gidalevich, T., Fang, J.K., Casal, M.L., Patterson, D.F., Giger, U. : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
Inheritance
AR

OptiGen

Link to GTP
GTP
Breed
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Henthorn, P.S., Liu, J.L., Gidalevich, T., Fang, J.K., Casal, M.L., Patterson, D.F., Giger, U. : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
Inheritance
AR

Orivet Genetic Pet Care

Link to GTP
Breed
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Henthorn, P.S., Liu, J.L., Gidalevich, T., Fang, J.K., Casal, M.L., Patterson, D.F., Giger, U. : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
Inheritance
AR

Paw Print Genetics

Link to GTP
Breed
GTP Disease Name
Cystinuria (Newfoundland Type)
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test

VHL Genetics

Link to GTP
Breed
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Henthorn, P.S., Liu, J.L., Gidalevich, T., Fang, J.K., Casal, M.L., Patterson, D.F., Giger, U. : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
Inheritance
AR

Wisdom Health (formerly Mars Veterinary)

Link to GTP
Breed
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Henthorn, P.S., Liu, J.L., Gidalevich, T., Fang, J.K., Casal, M.L., Patterson, D.F., Giger, U. : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a). Urolithiasis, formation of calculi (crystals, stones) in the urinary tract. Obstruction of the urinary tract and recurrent cystitis
Inheritance
AR

Genomia s.r.o

Link to GTP
Breed
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test

GenSol Diagnostics

Link to GTP
Breed
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
GTP- or Breed-Specific Publications
Henthorn, P.S., Liu, J.L., Gidalevich, T., Fang, J.K., Casal, M.L., Patterson, D.F., Giger, U. : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.