|
1
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
2
|
(HPO:0000100)
|
Nephrotic syndrome |
Occasional [Orphanet]
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0001399)
|
Hepatic failure |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
4
|
(HPO:0002097)
|
Emphysema |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
5
|
(HPO:0001396)
|
Cholestasis |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
6
|
(HPO:0001394)
|
Cirrhosis |
rare [HPO:skoehler]
|
|
|
|
102 / 7739
|
|
7
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
|
|
25 / 7739
|
|
8
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
9
|
(HPO:0006510)
|
Chronic obstructive pulmonary disease |
|
|
|
|
19 / 7739
|
|
10
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
11
|
(OMIM)
|
Small airways |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Alveolar wall destruction |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Emphysema especially at bases |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Hepatic intracellular inclusions in ZZ homozygotes |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Infantile liver abnormalities in <20% with deficiency |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Serum alpha-1-antitrypsin (Pi) deficiency |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|