The detail information of Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis
OMIA Basic Information

Possible human homologues (MIM numbers): -

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2012

Species-specific name: Dry eye curly coat syndrome

Species-specific symbol: CKCSID

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB67 Cavalier King Charles Spaniel 30.5-33 cm 5.9-8.2 kg United Kingdom (England)
Associated Gene
Symbol Description Species Position Other Links
FAM83H family with sequence similarity 83, member H Canis lupus familiaris Chr13 : 37804968 - 37796064 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2019 Lewis,T.W.,Mellersh,C.S.: :
Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864, 2019.
Pubmed reference: 30650096 . DOI: 10.1371/journal.pone.0209864 .
2017 Guandalini,A.,DiGirolamo,N.,Corvi,R.,Santillo,D.,Andreani,V.,Pinzo,B.: :
Epidemiology of ocular disorders presumed to be inherited in three small Italian dog breeds in Italy. Vet Ophthalmol :, 2017.
Pubmed reference: 29284193 . DOI: 10.1111/vop.12542 .
2012 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 .
2012 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 .
2012 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 .
2006 Barnett,K.C.: :
Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in the cavalier King Charles spaniel. J Small Anim Pract 47:524-8, 2006.
Pubmed reference: 16961470 . DOI: 10.1111/j.1748-5827.2006.00107.x .