| Contents |
|---|
| Congenital Hepatic Fibrosis |
| Summary |
| Disease Name and Genes |
| Inheritance |
Congenital Hepatic Fibrosis
Summary
Franches-Montagnes horses with Congenital Hepatic Fibrosis show clinical signs of severe liver injury as foals within the first year of life. They are small for their age and show a potbelly due to an increased liver size. The liver shows diffuse fibrosis. There is no effective treatment, and affected foals are typically euthanized.
All affected Franches-Montagnes horses trace their ancestry to the stallion Elu, born in 1964, and have him as both a maternal and paternal ancestor.
Date of Last Update: 03/29/2016
Results
Disease Name and Genes
Congenital Hepatic Fibrosis in Franches-Montagnes horses is associated with variants in the PKHD1 gene, although there is no single nonsynonymous substitution that shows a perfect association (some horses homozygous for each specific variant identified do not develop Congenital Hepatic Fibrosis).
Inheritance
Congenital Hepatic Fibrosis in Franches-Montagnes horses caused by mutations in the PKHD1 gene shows a recessive mode of inheritance.
The recessive allele is abbreviated here as CHF, with the dominant wild-type allele abbreviated as N.
Carriers of the recessive allele (N/CHF) have no symptoms of the disease. If two carriers are bred, each foal has a 25% chance of having two copies of the normal allele (N/N), a 50% chance of being a carrier (N/CHF), and a 25% chance of being affected (CHF/CHF).
If a carrier of the recessive allele (N/CHF) is bred to a normal horse (N/N), each foal has a 50% chance of having two copies of the normal allele (N/N) and a 50% chance of being a carrier (N/CHF).
