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Curly Coat Dry Eye (CKCSID)
Breed: Cavalier King Charles Spaniel
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
GTPs
General
Disease Name
Curly Coat Dry Eye (CKCSID)
OMIA
1683
Gene Name
FAM83H
Mutation
c.977delC
Mutation 2
p.Pro326Hisfs*258
Mutation 3
c.1015delC
Test Type
Genetic Disease/Disorder
Details
Dry eye and curly coat syndrome may be unique to Cavalier King Charles Spaniels. Dry eye and curly coat syndrome affects a dog?s eyes and skin. Affected dogs produce no tears making their eyes incredibly sore. Their skin becomes very flaky and dry, particularly around the foot, and this can make standing and walking difficult and painful. Sadly, most dogs diagnosed with the condition are put to sleep.
Details 2
Dry eye and curly coat syndrome otherwise known as congenital keratoconjunctivitis sicca and ichtyosiform dermatosis, affects a dog?s eyes and skin. Affected dogs produce no tears making their eyes incredibly sore. Their skin becomes very flaky and dry, particularly around the foot, and this can make standing and walking difficult and painful. This disease may be unique to Cavalier King Charles Spaniels and most dogs diagnosed with the condition are put to sleep due to limited treatements and the severity of the disease.
Published
Forman, O.P., Penderis, J., Hartley, C., Hayward, L.J., Ricketts, S.L., Mellersh, C.S. : Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed. PLoS Genet 8:e1002462, 2012. Pubmed reference: 22253609. DOI: 10.1371/journal.pgen.1002462.
Published 2
Hartley, C., Donaldson, D., Smith, K.C., Henley, W., Lewis, T.W., Blott, S., Mellersh, C., Barnett, K.C. : Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in 25 Cavalier King Charles spaniel dogs. Part I: clinical signs, histopathology, and inheritance. Vet Ophthalmol 15:315-26, 2012. Pubmed reference: 22212237. DOI: 10.1111/j.1463-5224.2011.00986.x.
Published 3
Hartley, C., Barnett, K.C., Pettitt, L., Forman, O.P., Blott, S., Mellersh, C.S. : Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in Cavalier King Charles spaniel dogs. Part II: candidate gene study. Vet Ophthalmol 15:327-32, 2012. Pubmed reference: 22339941. DOI: 10.1111/j.1463-5224.2012.00987.x.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Cavalier King Charles Spaniel
Breed-specific 1
Cavalier King Charles Spaniel
Breed-specific 1 Details
Publication demonstrated a strong association between mutation and disease in Cavalier King Charles spaniels. No functional evidence presented. Forman et al., (2012) Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed. PLoS Genetics, 8, e1002462.
Breed-specific 2
Australian Cobberdog
Breed-specific 2 Details
unpublished
HSP Test-Specific Data
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
FAM83H
Mutation
c.1015delC
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
FAM83H
Mutation
c.1015delC
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
FAM83H
Mutation
c.1015delC
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
GTP Disease Name
Congenital keratoconjuctivitis sicca and ichthyosiform dermatosis
Gene Name
FAM83H
Mutation
c.1015delC
This test is outsourced to:
Weatherby's
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, dry eye curly coat syndrome
GTP Disease Synonym
Dry Eye Curly Coat Syndrome (CKCSID)
Gene Name
FAM83H
Mutation
c.1015delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Forman, O.P., Penderis, J., Hartley, C., Hayward, L.J., Ricketts, S.L., Mellersh, C.S. : Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inhe
Application in the Breed
Carriers may be bred to normal animals (N/ckcsid x N/N) . Offspring should be tested before breeding .No breeding of two carriers (N/ckcsid x N/ckcsid) nor of affected animals (ckcsid/ckcsid). Hair is abnormal from birth, and eye and nail abnormalities- The coat is rough and/or curly, the eyes do not produce normal amounts of tears, the skin and footpads are thickened. Dental disease increased
Inheritance
AR
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
FAM83H
Mutation
c.1015delC
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
FAM83H
Mutation
c.1015delC
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, dry eye curly coat syndrome
Gene Name
FAM83H
Mutation
c.1015delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Forman, O.P., Penderis, J., Hartley, C., Hayward, L.J., Ricketts, S.L., Mellersh, C.S. : Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inhe
Application in the Breed
Carriers may be bred to normal animals (N/ckcsid x N/N) . Offspring should be tested before breeding .No breeding of two carriers (N/ckcsid x N/ckcsid) nor of affected animals (ckcsid/ckcsid). Hair is abnormal from birth, and eye and nail abnormalities- The coat is rough and/or curly, the eyes do not produce normal amounts of tears, the skin and footpads are thickened. Dental disease increased
Inheritance
AR
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, dry eye curly coat syndrome
Gene Name
FAM83H
Mutation
c.1015delC
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
FAM83H
Mutation
c.1015delC
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
FAM83H
Mutation
c.1015delC
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Congenital keratoconjuctivitis sicca and ichthyosiform dermatosis
GTP Disease Synonym
Dry eye curly coat syndrome
Gene Name
FAM83H
Mutation
c.977del
Mutation Comment
g.37328057del
Nature of test
mutation test
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, dry eye curly coat syndrome
GTP Disease Synonym
Dry Eye Curly Coat Syndrome (CKCSID)
Gene Name
FAM83H
Mutation
c.1015delC
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, dry eye curly coat syndrome
GTP Disease Synonym
Dry Eye Curly Coat Syndrome (CKCSID)
Gene Name
FAM83H
Mutation
c.1015delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Forman, O.P., Penderis, J., Hartley, C., Hayward, L.J., Ricketts, S.L., Mellersh, C.S. : Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inhe
Application in the Breed
Carriers may be bred to normal animals (N/ckcsid x N/N) . Offspring should be tested before breeding .No breeding of two carriers (N/ckcsid x N/ckcsid) nor of affected animals (ckcsid/ckcsid). Hair is abnormal from birth, and eye and nail abnormalities- The coat is rough and/or curly, the eyes do not produce normal amounts of tears, the skin and footpads are thickened. Dental disease increased
Inheritance
AR
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Congenital keratoconjuctivitis sicca and ichthyosiform dermatosis
Gene Name
FAM83H
Mutation
c.1015delC
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
FAM83H
Mutation
c.1015delC
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, dry eye curly coat syndrome
GTP Disease Synonym
Dry Eye Curly Coat Syndrome (CKCSID)
Gene Name
FAM83H
Mutation
c.1015delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Forman, O.P., Penderis, J., Hartley, C., Hayward, L.J., Ricketts, S.L., Mellersh, C.S. : Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inhe
Application in the Breed
Carriers may be bred to normal animals (N/ckcsid x N/N) . Offspring should be tested before breeding .No breeding of two carriers (N/ckcsid x N/ckcsid) nor of affected animals (ckcsid/ckcsid). Hair is abnormal from birth, and eye and nail abnormalities- The coat is rough and/or curly, the eyes do not produce normal amounts of tears, the skin and footpads are thickened. Dental disease increased
Inheritance
AR
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, dry eye curly coat syndrome
Gene Name
FAM83H
Mutation
c.1015delC
Nature of test
mutation test
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
FAM83H
Mutation
c.1015delC
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
FAM83H
Mutation
c.1015delC
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, dry eye curly coat syndrome
GTP Disease Synonym
Dry Eye Curly Coat Syndrome (CKCSID)
Gene Name
FAM83H
Mutation
c.1015delC
Nature of test
mutation test
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
FAM83H
Mutation
c.1015delC
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
FAM83H
Mutation
c.1015delC
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