Gallbladder Mucoceles
Breed: English Cocker Spaniel
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
Relevance Rating: There is some evidence or research available for these breeds
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 for these breeds
General
Disease Name
Gallbladder Mucoceles
OMIA
1524
Gene Name
ABCB4
Mutation
c.1583_1584G
Test Type
Genetic Disease/Disorder
Details
Gallbladder mucocoele (GBM) causes an abnormal accumulation of inspissated bile and/or mucous within the gallbladder. Older, small- to medium-breed dogs seem to be predisposed. Clinical signs are often non-specific and include vomiting, lethargy, anorexia, abdominal pain, jaundice and excessive drinking and urinating. If left untreat, or the gallbladder ruptures, it can cause death. As an autosomal dominant disease with incomplete penetrance, it is know that dogs inheriting one copy of the causal mutation are at increased risk for the disease. However, the disease development and onset varies between dogs, and not all dogs with one copy of the mutation will go on to develop the disease. It is possible environmental or other factors (genetic or not) impact the clinical expression of the disease.
Details 2
Gallbladder mucocoele (GBM) is an abnormal, intraluminal accumulation of inspissated bile and/or mucous within the gallbladder. Older, small- to medium-breed dogs seem to be predisposed, but no sex predilection has been identified. Clinical signs are often non-specific and include vomiting, lethargy, anorexia, abdominal pain, icterus and polyuria-polydipsia. Results of a complete blood count may be unremarkable, but serum biochemistry usually reveals increased liver enzymes. The ultrasonographic appearance is diagnostic and well described in the literature. Surgical intervention for the treatment of GBM remains the therapeutic gold standard, with short- and long-term survival for biliary surgery being 66%. (Smalle et al, 2015)
Published
Mealey, KL., Minch, JD., White, SN., Snekvik, KR., Mattoon, JS. : An insertion mutation in ABCB4 is associated with gallbladder mucocele formation in dogs. Comp Hepatol 9:6, 2010. Pubmed reference: 20598156. DOI: 10.1186/1476-5926-9-6.
Published 2
Smalle, T.M., Cahalane, A.K., Köster, L.S. : Gallbladder mucocoele: A review. J S Afr Vet Assoc 86:1318, 2015. Pubmed reference: 26824341.
Body/System/Process
Gastrointestinal
OMIA Url
Inheritance
ADIP
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
unpublished
Mutation
c.1583_1584G
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
unpublished
Mutation
c.1583_1584G
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
unpublished
Mutation
c.1583_1584G
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
unpublished
Mutation
c.1583_1584G
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
GBM
Gene Name
ABCB4
Mutation
c.1660_1661insG
Mutation Comment
g.13584928_13584929insC
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
unpublished
Mutation
c.1583_1584G
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
unpublished
Mutation
c.1583_1584G
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
unpublished
Mutation
c.1583_1584G
Nature of test
mutation test
FCI Number
5
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
unpublished
Mutation
c.1583_1584G
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
unpublished
Mutation
c.1583_1584G
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
unpublished
Mutation
c.1583_1584G
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
unpublished
Mutation
c.1583_1584G
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
unpublished
Mutation
c.1583_1584G
Key Comment