Fanconi Syndrome
Breed: Basenji
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Fanconi Syndrome
OMIA
366
Gene Name
FAN1
Mutation
321bp deletion
Test Type
Genetic Disease/Disorder
Details
Fanconi syndrome causes the proximal renal tubules of the kidney to not properly reabsorb electrolytes and nutrients back into the body, but instead "spill" them in the urine. Symptoms include excessive drinking, excessive urination, and glucose in the urine. If Fanconi is left untreated, muscle wasting, acidosis, and poor condition will also occur. Age of onset on average between 4 and 8 years of age. Since the disease is typically not discovered until the dog is older, the condition is often passed on to offspring as it was not known that the parent was affected. Fanconi syndrome is progressive, and left untreated can be fatal.
Details 2
Fanconi syndrome causes the proximal renal tubules of the kidney to not properly reabsorb electrolytes and nutrients back into the body, but instead "spill" them in the urine. Symptoms include excessive drinking (polydipsia), excessive urination (polyuria), and glucose in the urine (glucosuria.) If Fanconi is left untreated, muscle wasting, acidosis, and poor condition will also occur.
Published
Published 2
Carmichael, N., Lee, J., Giger, U. : Fanconi syndrome in dog in the UK. Vet Rec 174:357-8, 2014. Pubmed reference: 24700011. DOI: 10.1136/vr.g2554.
Body/System/Process
Renal
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Renal Fanconi syndrom
Gene Name
FAN1
Mutation
317 bp of exon 14 were deleted starting at the second exon14 nucleotide and extending into the 3' untranslated region of FAN1
Mutation Comment
g.38013703_38014019del
Nature of test
mutation test
Orthopedic Foundation for Animals
GTP
GTP Name
Orthopedic Foundation for Animals
Breed
OMIA
GTP Disease Name
Renal Fanconi syndrom
Gene Name
RAPGEF6
Mutation
321bp deletion
Nature of test
mutation test
GTP- or Breed-Specific Publications
Carmichael, N., Lee, J., Giger, U. : Fanconi syndrome in dog in the UK. Vet Rec 174:357-8, 2014. Pubmed reference: 24700011. DOI: 10.1136/vr.g2554.
Inheritance
AR
FCI Number
43
GTP Breed
Basenji
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Renal Fanconi syndrom
Gene Name
FAN1
Mutation
321bp deletion
Nature of test
mutation test
GTP- or Breed-Specific Publications
Carmichael, N., Lee, J., Giger, U. : Fanconi syndrome in dog in the UK. Vet Rec 174:357-8, 2014. Pubmed reference: 24700011. DOI: 10.1136/vr.g2554.
Inheritance
AR
FCI Number
43
GTP Breed
Basenji
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Renal Fanconi syndrom
Gene Name
FAN1
Mutation
321bp deletion
Nature of test
mutation test
FCI Number
43
GTP Breed
Basenji
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Renal Fanconi syndrom
Gene Name
FAN1
Mutation
321bp deletion
Nature of test
mutation test
FCI Number
43
GTP Breed
Basenji
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
FAN1
Mutation
c.2954-3271del
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Renal Fanconi syndrom
Gene Name
FAN1
Mutation
321bp deletion
Nature of test
mutation test
GTP- or Breed-Specific Publications
Carmichael, N., Lee, J., Giger, U. : Fanconi syndrome in dog in the UK. Vet Rec 174:357-8, 2014. Pubmed reference: 24700011. DOI: 10.1136/vr.g2554.
Inheritance
AR
GTP Notes
Awaiting validation
FCI Number
43
GTP Breed
Basenji
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Renal Fanconi syndrom
Gene Name
FAN1
Mutation
321bp deletion
Nature of test
mutation test
FCI Number
43
Key Comment