Mutations of this gene have been linked with autosomal dominant polycystic liver disease.
2.
It is also associated with polycystic liver disease.
3.
Also, any mutation in this gene causes autosomal dominant polycystic liver disease . [ 7]
4.
When lymphangiomatosis occurs in the liver and / or spleen it may be confused with polycystic liver disease.
5.
Polycystic Liver Disease comes in two forms as ADPKD ( with kidney cysts ) and ADPLD ( liver cysts only ).
6.
They are classically associated with polycystic liver disease, as may be seen in the context of polycystic kidney disease, and represent a malformation of the liver plate.
7.
Currently recognized ciliopathies include Joubert syndrome, primary ciliary dyskinesia ( also known as Kartagener Syndrome ), Bardet-Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.
8.
In an analysis of 20 patients from 9 unrelated families develop polycystic kidney disease with heterozygous mutations in the GANAB gene . 5 of the mutations from the GANAB gene were predicted to result in a short protein ( frameshift, nonsense, or splicing ), and 3 missense mutations . 7 of the families had a diagnosis of PKD, while the other 2 families had a diagnosis of polycystic liver disease ( PCLD ).
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