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Nephropathy

Breed: Australian Cobberdog

Generic Phene Data

General

Disease Name
Nephropathy
Disease Name 2
Familial Nephropathy
OMIA
710
Gene Name
COL4A4
Mutation
c.115A>T
Mutation 2
c.2712C>T
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
alport syndrome, autosomal recessive hereditary nephritis
Details
Familial Nephropathy (FN) is a disease of the kidneys, found in a number of breeds and breed types. Sypmtoms and age of onset can vary by breed. Signs include kidney stones, bloody urine, protein loss into urine, hypertension, anorexia, vomiting, weight loss, build-up of fluid in tissues, abnormal behaviour, adverse reactions to specific foods leading to diarrhea and itchy skin. Age of first signs/onset 2 ? 6 years. If undiagnosed, can lead to fatal kidney failure without prompt treatment.
Details 2
Familial Nephropathy (FN) is a disease of the kidneys, found in a number of breeds and breed types. Sypmtoms and age of onset can vary by breed. Signs include kidney stones, bloody urine, protein loss into urine, hypertension, anorexia, vomiting, weight loss, build-up of fluid in tissues, abnormal behaviour, adverse reactions to specific foods leading to diarrhea and itchy skin. Age of first signs/onset 2 ? 6 years. If undiagnosed, can lead to fatal kidney failure without prompt treatment.
Patents/ Licences
Patent: Merlogen, LLC. License: OptiGen - US, CA. (please note that patent and licensing laws and coverage vary by country)
Published
Davidson, AG., Bell, RJ., Lees, GE., Kashtan, CE., Davidson, GS., Murphy, KE. : Genetic cause of autosomal recessive hereditary nephropathy in the English Cocker Spaniel. J Vet Intern Med 21:394-401, 2007. Pubmed reference: 17552442.
Published 2
Nowend, K.L., Starr-Moss, A.N., Lees, G.E., Berridge, B.R., Clubb, F.J., Kashtan, C.E., Nabity, M.B., Murphy, K.E. : Characterization of the genetic basis for autosomal recessive hereditary nephropathy in the English Springer Spaniel. J Vet Intern Med 26:294-301, 2012. Pubmed reference: 22369189. DOI: 10.1111/j.1939-1676.2012.00888.x.
Published 3
Lees, G.E. : Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs. J Vet Emerg Crit Care (San Antonio) 23:184-93, 2013. Pubmed reference: 23464675. DOI: 10.1111/vec.12031.
Body/System/Process
Renal
Inheritance
AR

Breed Specific Data

Anicom

Link to GTP
GTP
GTP Disease Name
Familial Nephropathy (Cocker Spaniel Type)
Gene Name
COL4A4
Mutation
c.115A>T

Paw Print Genetics

Link to GTP
GTP Disease Name
Familial Nephropathy (Cocker Spaniel Type)
Gene Name
COL4A4
Mutation
c.115A>T
Nature of test
mutation test
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