Jump to content
International Collaboration For Dog Health And Welfare. Join Us.

Primary Hereditary Cataract (PHC)

Breed: American Staffordshire Terrier

Generic Phene Data

General

Disease Name
Primary Hereditary Cataract (PHC)
Disease Name 2
Cataract, Early Onset (HC)
OMIA
1758
Gene Name
HSF4-1
Gene Name 2
HSF4-2
Mutation
g.85286582delC
Mutation 2
g.85286582_3insC
OMIM
116800
Disease Code
PHC
Test Type
Genetic Disease/Disorder
Details
Affected dogs develop cataracts in both eyes at an early age. The condition is not congenital, so the lenses are normal at birth but cataracts appear at a few weeks to months in age, progressing to total cataract (and resulting blindness) by 2 to 3 years of age.
Details 2
Affected dogs develop cataracts in both eyes at an early age. The condition is not congenital, so the lenses are normal at birth but cataracts appear at a few weeks to months in age, progressing to total cataract (and resulting blindness) by 2 to 3 years of age.
Patents/ Licences
Patent: Animal Health Trust. License: OptiGen - US. Test Discovery: Animal Health Trust (Publication: 1). (please note that patent and licensing laws and coverage vary by country)
Published
Mellersh, CS., Mclaughlin, B., Ahonen, S., Pettitt, L., Lohi, H., Barnett, KC.: Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd. Vet Ophthalmol 12:372-8, 2009. Pubmed reference: 19883468. DOI: 10.1111/j.1463-5224.2009.00735.x.
Published 2
Bellumori, T.P., Famula, T.R., Bannasch, D.L., Belanger, J.M., Oberbauer, A.M. : Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc 242:1549-55, 2013. Pubmed reference: 23683021. DOI: 10.2460/javma.242.11.1549.
Body/System/Process
Eye
Inheritance
AR
Gene Name Text
Heat shock factor protein 4

Breed Specific Data

EVG Diagnostics

Link to GTP
Gene Name
HSF5
Mutation
g.85286582?85286583insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Vet Ophthalmol. 2006 Sep-Oct;9(5):369-78
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.