|
1
|
(HPO:0001928)
|
Abnormality of coagulation |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
|
2
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
3
|
(HPO:0001080)
|
Biliary tract abnormality |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
4
|
(HPO:0002027)
|
Abdominal pain |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
5
|
(HPO:0001945)
|
Fever |
Occasional [Orphanet]
|
|
|
|
218 / 7739
|
|
6
|
(HPO:0012086)
|
Abnormal urinary color |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
7
|
(HPO:0002592)
|
Gastric ulcer |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
8
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
9
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
10
|
(HPO:0002908)
|
Conjugated hyperbilirubinemia |
|
|
|
|
21 / 7739
|
|
11
|
(OMIM)
|
Coarse pigment in centrilobular cells |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Black liver |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Nonvisualization of gallbladder (oral cholecystography) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Routine liver function tests normal |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Normal serum bile acids |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Characteristic urinary coproporphyrin pattern (mostly isomer I (80%) instead of isomer III) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Normal total urinary coproporphyrin |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Bromosulfophthalein test - secondary rise at 90 minutes |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0001324)
|
Muscle weakness |
Occasional [Orphanet]
|
|
|
|
859 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|