Isolated polycystic liver disease

General Information (adopted from Orphanet):

Synonyms, Signs: ADPCLD
PCLD
Autosomal dominant polycystic liver disease
Number of Symptoms 41
OrphanetNr: 2924
OMIM Id: 174050
ICD-10: Q44.6
UMLs: C0158683
MeSH: C536330
MedDRA: 10010427
10048834
Snomed: 72925005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic parenchymatous liver disease
 -Rare genetic disease
Rare parenchymatous liver disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000107) Renal cyst 126 / 7739
2
 (HPO:0000113) Polycystic kidney dysplasia Frequent [Orphanet] 75 / 7739
3
 (HPO:0000707) Abnormality of the nervous system 61 / 7739
4
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
5
 (HPO:0003418) Back pain 17 / 7739
6
 (HPO:0002027) Abdominal pain Occasional [Orphanet] 184 / 7739
7
 (HPO:0006706) Cystic liver disease Very frequent [Orphanet] 8 / 7739
8
 (HPO:0001396) Cholestasis Occasional [Orphanet] 136 / 7739
9
 (HPO:0003270) Abdominal distention 46 / 7739
10
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
11
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
12
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
13
 (HPO:0001541) Ascites 94 / 7739
14
 (HPO:0012090) Abnormality of pancreas morphology Occasional [Orphanet] 31 / 7739
15
 (HPO:0006557) Polycystic liver disease 5 / 7739
16
 (HPO:0002617) Aneurysm Occasional [Orphanet] 34 / 7739
17
 (HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
18
 (HPO:0003573) Increased total bilirubin 10 / 7739
19
 (HPO:0003155) Elevated alkaline phosphatase Occasional [HPO:skoehler] 52 / 7739
20
 (HPO:0012252) Abnormal respiratory system morphology Occasional [Orphanet] 14 / 7739
21
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
22
 (OMIM) Rare compression of inferior vena cava (secondary lower extremity edema) 1 / 7739
23
 (OMIM) No evidence of renal cysts 1 / 7739
24
 (OMIM) Rare infection of cysts 1 / 7739
25
 (OMIM) Early satiety due to mass effect of liver 1 / 7739
26
 (OMIM) Dyspnea due to mass effect of liver 1 / 7739
27
 (OMIM) Increased total bilirubin may occur 1 / 7739
28
 (OMIM) Rare rupture of cysts 1 / 7739
29
 (OMIM) Slightly increased serum alkaline phosphatase may occur 1 / 7739
30
 (OMIM) Cysts of biliary epithelial origin 1 / 7739
31
 (OMIM) Back pain due to mass effect of liver 1 / 7739
32
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
33
 (OMIM) Abdominal distention due to mass effect of liver 1 / 7739
34
 (OMIM) Multiple fluid-filled cysts throughout the liver 1 / 7739
35
 (OMIM) No kidney disease 3 / 7739
36
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
37
 (OMIM) Lower total cholesterol 1 / 7739
38
 (OMIM) Rare obstruction of hepatic venous outflow (ascites) 1 / 7739
39
 (OMIM) Lower triglycerides 1 / 7739
40
 (OMIM) Rare hemorrhage from cysts 1 / 7739
41
 (OMIM) Absence of cerebral aneurysms 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Berrebi et al. (1982) suggested that polycystic liver disease exists as an autosomal dominant entity independent of polycystic kidney disease (PKD; 173900), which in a considerable but uncertain proportion of cases is associated with hepatic cysts. They described ...
Molecular genetics OMIM - PCLD Due to Mutation in the PRKCSH Gene

Drenth et al. (2003) narrowed the linkage assignment of the PCLD locus on 19p to a genomic interval containing 78 genes and EST clusters. In the absence ...