1
|
(HPO:0010839)
|
Increased urinary copper concentration |
Very frequent [IBIS]
|
100% (n=12)
|
27103860
|
IBIS
|
1 / 7739
|
2
|
(HPO:0001410)
|
Decreased liver function |
Very frequent [IBIS]
|
92% (n=12)
|
27103860
|
IBIS
|
59 / 7739
|
3
|
(HPO:0003073)
|
Hypoalbuminemia |
Frequent [IBIS]
|
84% (n=12)
|
27103860
|
IBIS
|
40 / 7739
|
4
|
(HPO:0010837)
|
Decreased serum ceruloplasmin |
Frequent [IBIS]
|
84% (n=12)
|
27103860
|
IBIS
|
2 / 7739
|
5
|
(HPO:0000939)
|
Osteoporosis |
Frequent [IBIS]
|
66% (n=32)
|
857745
|
IBIS
|
129 / 7739
|
6
|
(HPO:0006462)
|
Generalized bone demineralization |
Frequent [IBIS]
|
66% (n=32)
|
857745
|
IBIS
|
11 / 7739
|
7
|
(HPO:0001337)
|
Tremor |
Frequent [IBIS]
|
58% (n=12)
|
27103860
|
IBIS
|
200 / 7739
|
8
|
(HPO:0002315)
|
Headache |
Frequent [IBIS]
|
58% (n=12)
|
27103860
|
IBIS
|
175 / 7739
|
9
|
(HPO:0000790)
|
Hematuria |
Frequent [IBIS]
|
56% (n=25)
|
18661763
|
IBIS
|
106 / 7739
|
10
|
(HPO:0200032)
|
Kayser-Fleischer ring |
Frequent [IBIS]
|
50% (n=12)
|
27103860
|
IBIS
|
2 / 7739
|
11
|
(HPO:0002013)
|
Vomiting |
Frequent [IBIS]
|
50% (n=12)
|
27103860
|
IBIS
|
191 / 7739
|
12
|
(HPO:0000093)
|
Proteinuria |
Frequent [IBIS]
|
48% (n=25)
|
18661763
|
IBIS
|
169 / 7739
|
13
|
(HPO:0000952)
|
Jaundice |
Frequent [IBIS]
|
42% (n=12)
|
27103860
|
IBIS
|
105 / 7739
|
14
|
(HPO:0001903)
|
Anemia |
Frequent [IBIS]
|
33% (n=12)
|
27103860
|
IBIS
|
289 / 7739
|
15
|
(HPO:0000980)
|
Pallor |
Frequent [IBIS]
|
33% (n=12)
|
27103860
|
IBIS
|
52 / 7739
|
16
|
(HPO:0003781)
|
Excessive salivation |
Frequent [IBIS]
|
|
26209285
|
IBIS
|
15 / 7739
|
17
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [IBIS]
|
28% (n=32)
|
857745
|
IBIS
|
231 / 7739
|
18
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [IBIS]
|
28% (n=25)
|
18661763
|
IBIS
|
232 / 7739
|
19
|
(MedDRA:10038182)
|
Red blood cells urine positive |
Occasional [IBIS]
|
28% (n=25)
|
18661763
|
IBIS
|
1 / 7739
|
20
|
(HPO:0001332)
|
Dystonia |
Occasional [IBIS]
|
25% (n=12)
|
27103860
|
IBIS
|
197 / 7739
|
21
|
(HPO:0002758)
|
Osteoarthritis |
Occasional [IBIS]
|
25% (n=32)
|
857745
|
IBIS
|
78 / 7739
|
22
|
(MedDRA:10004501)
|
Beta 2 microglobulin urine increased |
Occasional [IBIS]
|
24% (n=25)
|
18661763
|
IBIS
|
1 / 7739
|
23
|
(HPO:0000969)
|
Edema |
Occasional [IBIS]
|
20% (n=25)
|
18661763
|
IBIS
|
117 / 7739
|
24
|
(MedDRA:10004511)
|
Beta-N-acetyl-D-glucosaminidase increased |
Occasional [IBIS]
|
20% (n=25)
|
18661763
|
IBIS
|
1 / 7739
|
25
|
(HPO:0001251)
|
Ataxia |
Occasional [IBIS]
|
17% (n=12)
|
27103860
|
IBIS
|
413 / 7739
|
26
|
(HPO:0002321)
|
Vertigo |
Occasional [IBIS]
|
17% (n=12)
|
27103860
|
IBIS
|
58 / 7739
|
27
|
(HPO:0004787)
|
Fulminant hepatitis |
Occasional [IBIS]
|
17% (n=12)
|
27103860
|
IBIS
|
3 / 7739
|
28
|
(HPO:0003076)
|
Glycosuria |
Occasional [IBIS]
|
16% (n=25)
|
18661763
|
IBIS
|
32 / 7739
|
29
|
(HPO:0011016)
|
Abnormality of urine glucose concentration |
Occasional [IBIS]
|
16% (n=25)
|
18661763
|
IBIS
|
1 / 7739
|
30
|
(MedDRA:10036030)
|
Polyarthritis |
Occasional [IBIS]
|
16% (n=32)
|
857745
|
IBIS
|
3 / 7739
|
31
|
(HPO:0000105)
|
Enlarged kidneys |
Occasional [IBIS]
|
12% (n=25)
|
18661763
|
IBIS
|
30 / 7739
|
32
|
(HPO:0003401)
|
Paresthesia |
Occasional [IBIS]
|
8% (n=12)
|
27103860
|
IBIS
|
42 / 7739
|
33
|
(HPO:0001279)
|
Syncope |
Occasional [IBIS]
|
8% (n=12)
|
27103860
|
IBIS
|
94 / 7739
|
34
|
(HPO:0001324)
|
Muscle weakness |
Occasional [IBIS]
|
8% (n=12)
|
27103860
|
IBIS
|
859 / 7739
|
35
|
(HPO:0001928)
|
Abnormality of coagulation |
Occasional [IBIS]
|
8% (n=12)
|
27103860
|
IBIS
|
44 / 7739
|
36
|
(HPO:0012751)
|
Abnormal basal ganglia MRI signal intensity |
Occasional [IBIS]
|
8% (n=12)
|
27103860
|
IBIS
|
4 / 7739
|
37
|
(HPO:0000707)
|
Abnormality of the nervous system |
Occasional [IBIS]
|
|
27103860
|
IBIS
|
61 / 7739
|
38
|
(HPO:0001878)
|
Hemolytic anemia |
Rare [IBIS]
|
4% (n=25)
|
18661763
|
IBIS
|
83 / 7739
|
39
|
(HPO:0003138)
|
Increased blood urea nitrogen |
Rare [IBIS]
|
4% (n=25)
|
18661763
|
IBIS
|
14 / 7739
|
40
|
(HPO:0003259)
|
Elevated serum creatinine |
Rare [IBIS]
|
4% (n=25)
|
18661763
|
IBIS
|
31 / 7739
|
41
|
(HPO:0012574)
|
Mesangial proliferation |
Rare [IBIS]
|
4% (n=25)
|
18661763
|
IBIS
|
1 / 7739
|
42
|
(HPO:0000124)
|
Renal tubular dysfunction |
|
|
25120295
|
IBIS
|
46 / 7739
|
43
|
(HPO:0011038)
|
Abnormality of renal resorption |
|
|
25120295
|
IBIS
|
6 / 7739
|
44
|
(HPO:0000726)
|
Dementia |
|
|
25906525
|
IBIS
|
131 / 7739
|
45
|
(HPO:0000751)
|
Personality changes |
|
|
26692151
|
IBIS
|
33 / 7739
|
46
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
25120295
|
IBIS
|
78 / 7739
|
47
|
(HPO:0000829)
|
Hypoparathyroidism |
|
|
26692151
|
IBIS
|
22 / 7739
|
48
|
(HPO:0000934)
|
Chondrocalcinosis |
|
|
3361541
|
IBIS
|
13 / 7739
|
49
|
(HPO:0001259)
|
Coma |
|
|
7322363
|
IBIS
|
65 / 7739
|
50
|
(HPO:0001260)
|
Dysarthria |
|
|
27103860
|
IBIS
|
329 / 7739
|
51
|
(HPO:0001271)
|
Polyneuropathy |
|
|
16216950
|
IBIS
|
56 / 7739
|
52
|
(HPO:0001394)
|
Cirrhosis |
|
|
26692151
|
IBIS
|
102 / 7739
|
53
|
(HPO:0001399)
|
Hepatic failure |
|
|
25380954
|
IBIS
|
80 / 7739
|
54
|
(HPO:0002015)
|
Dysphagia |
|
|
27103860
|
IBIS
|
301 / 7739
|
55
|
(HPO:0002040)
|
Esophageal varix |
|
|
4190630
|
IBIS
|
23 / 7739
|
56
|
(HPO:0002150)
|
Hypercalciuria |
|
|
23087754
|
IBIS
|
45 / 7739
|
57
|
(HPO:0002240)
|
Hepatomegaly |
|
|
26288636
|
IBIS
|
467 / 7739
|
58
|
(HPO:0002275)
|
Poor motor coordination |
|
|
24798599
|
IBIS
|
6 / 7739
|
59
|
(HPO:0002307)
|
Drooling |
|
|
26209285
|
IBIS
|
43 / 7739
|
60
|
(HPO:0002749)
|
Osteomalacia |
|
|
3975658
|
IBIS
|
24 / 7739
|
61
|
(HPO:0001369)
|
Arthritis |
|
|
22286624
|
IBIS
|
44 / 7739
|
62
|
(HPO:0003109)
|
Hyperphosphaturia |
|
|
857745
|
IBIS
|
18 / 7739
|
63
|
(HPO:0003355)
|
Aminoaciduria |
|
|
26692151
|
IBIS
|
65 / 7739
|
64
|
(HPO:0007327)
|
Mixed demyelinating and axonal polyneuropathy |
|
|
16216950
|
IBIS
|
1 / 7739
|
65
|
(HPO:0010838)
|
High nonceruloplasmin-bound serum copper |
|
|
27103860
|
IBIS
|
1 / 7739
|
66
|
(MedDRA:10010075)
|
Coma hepatic |
|
|
7322363
|
IBIS
|
1 / 7739
|
67
|
(OMIM)
|
High liver copper |
|
|
27103860
|
IBIS
|
1 / 7739
|
68
|
(OMIM)
|
Low serum ceruloplasmin |
|
|
27103860
|
IBIS
|
1 / 7739
|
69
|
(OMIM)
|
High urinary copper |
|
|
27103860
|
IBIS
|
1 / 7739
|
70
|
(HPO:0100022)
|
Abnormality of movement |
|
|
27103860
|
IBIS
|
129 / 7739
|
71
|
(HPO:0000298)
|
Mask-like facies |
|
|
27103860
|
IBIS
|
44 / 7739
|
72
|
(HPO:0001288)
|
Gait disturbance |
|
|
27103860
|
IBIS
|
318 / 7739
|
73
|
(HPO:0002200)
|
Pseudobulbar signs |
|
|
27103860
|
IBIS
|
15 / 7739
|
74
|
(HPO:0012676)
|
Copper accumulation in brain |
|
|
27103860
|
IBIS
|
1 / 7739
|
75
|
(HPO:0010836)
|
Abnormality of copper homeostasis |
|
|
27103860
|
IBIS
|
2 / 7739
|
76
|
(HPO:0002459)
|
Dysautonomia |
|
|
27103860
|
IBIS
|
34 / 7739
|
77
|
(HPO:0002067)
|
Bradykinesia |
|
|
27103860
|
IBIS
|
62 / 7739
|
78
|
(HPO:0003201)
|
Rhabdomyolysis |
|
|
27103860
|
IBIS
|
27 / 7739
|
79
|
(OMIM)
|
Hypokalemic muscle weakness |
|
|
27103860
|
IBIS
|
2 / 7739
|
80
|
(HPO:0004448)
|
Fulminant hepatic failure |
|
|
26692151
|
IBIS
|
4 / 7739
|
81
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
26692151
|
IBIS
|
28 / 7739
|
82
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
23087754
|
IBIS
|
57 / 7739
|
83
|
(HPO:0001959)
|
Polydipsia |
|
|
23087754
|
IBIS
|
43 / 7739
|
84
|
(HPO:0004334)
|
Dermal atrophy |
|
|
25617204
|
IBIS
|
34 / 7739
|
85
|
(OMIM)
|
Labile mood |
|
|
26692151
|
IBIS
|
2 / 7739
|
86
|
(HPO:0001575)
|
Mood changes |
|
|
26692151
|
IBIS
|
7 / 7739
|
87
|
(HPO:0000716)
|
Depression |
|
|
26692151
|
IBIS
|
99 / 7739
|
88
|
(HPO:0011999)
|
Paranoia |
|
|
26692151
|
IBIS
|
6 / 7739
|
89
|
(HPO:0100753)
|
Schizophrenia |
|
|
26692151
|
IBIS
|
20 / 7739
|
90
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
26692151
|
IBIS
|
192 / 7739
|
91
|
(HPO:0011675)
|
Arrhythmia |
|
|
26692151
|
IBIS
|
226 / 7739
|
92
|
(HPO:0002748)
|
Rickets |
|
|
3975658
|
IBIS
|
41 / 7739
|
93
|
(HPO:0012452)
|
Restless legs |
|
|
26940540
|
IBIS
|
2 / 7739
|
94
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
16216950
|
IBIS
|
206 / 7739
|
95
|
(OMIM)
|
Sensorimotor polyneuropathy |
|
|
16216950
|
IBIS
|
2 / 7739
|
96
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
25906525
|
IBIS
|
76 / 7739
|
97
|
(HPO:0005264)
|
Abnormality of the gallbladder |
|
|
22286624
|
IBIS
|
14 / 7739
|
98
|
(HPO:0001971)
|
Hypersplenism |
|
|
25910248
|
IBIS
|
8 / 7739
|
99
|
(HPO:0001744)
|
Splenomegaly |
|
|
25910248
|
IBIS
|
337 / 7739
|
100
|
(HPO:0001876)
|
Pancytopenia |
|
|
25910248
|
IBIS
|
89 / 7739
|
101
|
(HPO:0001367)
|
Abnormal joint morphology |
|
|
23576656
|
IBIS
|
53 / 7739
|
102
|
(HPO:0010886)
|
Osteochondritis Dissecans |
|
|
857745
|
IBIS
|
9 / 7739
|
103
|
(HPO:0003418)
|
Back pain |
|
|
857745
|
IBIS
|
17 / 7739
|
104
|
(HPO:0001387)
|
Joint stiffness |
|
|
857745
|
IBIS
|
322 / 7739
|
105
|
(HPO:0002653)
|
Bone pain |
|
|
857745
|
IBIS
|
75 / 7739
|
106
|
(HPO:0008341)
|
Distal renal tubular acidosis |
|
|
25120295
|
IBIS
|
6 / 7739
|