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