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Nephropathy

Breed: English Springer Spaniel

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
Anicom Specialty Medical Institute Inc.
Genomia s.r.o
Paw Print Genetics
AnimaLabs

General

Disease Name
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 Info

Researched Breeds
English Cocker Spaniel, English Springer Spaniel, Pembroke Welsh Corgi

HSP Test-Specific Data

Anicom Specialty Medical Institute Inc.

GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Familial Nephropathy (Cocker Spaniel Type)
Gene Name
COL4A4
Mutation
c.2712C>T

Paw Print Genetics

GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Familial Nephropathy (Cocker Spaniel Type)
GTP Disease Synonym
alport syndrome, autosomal recessive hereditary nephritis
Gene Name
COL4A4
Mutation
c.2712C>T
Nature of test
mutation test
FCI Number
125
GTP Breed
English Springer Spaniel

AnimaLabs

GTP
GTP Name
AnimaLabs
Breed
OMIA

Genomia s.r.o

GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
HN
GTP Disease Synonym
ARHN
Gene Name
COL4A4
Mutation
c.2713C>T
Mutation Comment
g.39893376G>A
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