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Nephritis, X-linked
Breed: Samoyed
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
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 in this breed
General
Disease Name
Nephritis, X-linked
OMIA
1112
Gene Name
COL4A5
Mutation
c.3079G>T
Test Type
Genetic Disease/Disorder
Details
X-linked nephritis is a disorder of the kidneys affecting dogs causing protein filterd by the kidneys from blood to be lost in the urine. Signs include: abnormal amounts of protein detected in urine, dogs are smaller and thinner, progressing to chronic kidney failure. Signs of kidney failure include increased and excessive thirst and urination, vomiting, anorexia, weight loss, weakness and fatigue. Age of onset from 2-3 months, signs of kidney failure between 7-15 months. Due to its X-linked recessive inheritance, male dogs are more frequently affected with this disease than female dogs. Female dogs may be less affected by this disorder. Affected dogs with kidney failure die or are euthanised by 12-18 months of age on average.
Details 2
X-linked nephritis is a disorder of the kidneys affecting dogs causing protein filterd by the kidneys from blood to be lost in the urine. Signs include: abnormal amounts of protein detected in urine, dogs are smaller and thinner, progressing to chronic kidney failure. Signs of kidney failure include increased and excessive thirst and urination, vomiting, anorexia, weight loss, weakness and fatigue. Age of onset from 2-3 months, signs of kidney failure between 7-15 months. Due to its X-linked recessive inheritance, male dogs are more frequently affected with this disease than female dogs. Female dogs may be less affected by this disorder. Affected dogs with kidney failure die or are euthanised by 12-18 months of age on average.
Published
Zheng, K.Q., Thorner, P.S., Marrano, P., Baumal, R., Mcinnes, R.R. : Canine X Chromosome-Linked Hereditary Nephritis - A Genetic Model for Human X-Linked Hereditary Nephritis Resulting from a Single Base Mutation in the Gene Encoding the alpha 5 Chain of Collagen Type IV Proceedings of the National Academy of Sciences of the United States of America 91:3989-3993, 1994. Pubmed reference: 8171024.
Published 2
Bell, R.J., Lees, G.E., Murphy, K.E. : X chromosome inactivation patterns in normal and X-linked hereditary nephropathy carrier dogs. Cytogenet Genome Res 122:37-40, 2008. Pubmed reference: 18931484. DOI: 10.1159/000151314.
Published 3
Thorner, P.S., Zheng, K.Q., Kalluri, R., Jacobs, R., Hudson, B.G. : Coordinate gene expression of the alpha-3, alpha-4, and alpha-5 chains of collagen type iv - evidence from a canine model of x-linked nephritis with a COL4A5 gene mutation Journal of Biological Chemistry 271:13821-13828, 1996. Pubmed reference: 8662866.
Body/System/Process
Renal
OMIA Url
Inheritance
XDCD
Breed Specific Info
Researched Breeds
Samoyed
HSP Test-Specific Data
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
COL4A5
Mutation
c.3079G>T
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
HN
Gene Name
COL4A5
Mutation
c.3079G>T
Mutation Comment
g.82196868G>T
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Alport Syndrome
Gene Name
COL4A5
Mutation
c.3079G>T
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Alport Syndrome
GTP Disease Synonym
X-Linked Dominant Nephritis, hereditary nephritis, XLAS
Gene Name
COL4A5
Mutation
c.3079G>T
Nature of test
mutation test
FCI Number
212
GTP Breed
Samoyed
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Alport Syndrome
GTP Disease Synonym
X-Linked Dominant Nephritis, hereditary nephritis, XLAS
Gene Name
COL4A5
Mutation
c.3079G>T
Nature of test
mutation test
FCI Number
212
GTP Breed
Samoyed
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
COL4A5
Mutation
c.3079G>T
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Alport Syndrome
GTP Disease Synonym
X-Linked Dominant Nephritis, hereditary nephritis, XLAS
Gene Name
COL4A5
Mutation
c.3079G>T
Nature of test
mutation test
FCI Number
212
GTP Breed
Samoyed
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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