1
|
(HPO:0003656)
|
Decreased beta-glucocerebrosidase protein and activity |
Very frequent [IBIS]
|
|
3385740; 25755533
|
IBIS
|
5 / 7739
|
2
|
(HPO:0001903)
|
Anemia |
Frequent [IBIS]
Frequent [Orphanet]
|
|
3385740; 11241475; 25755533; 24588457; 12919144
|
IBIS
|
289 / 7739
|
3
|
(HPO:0001433)
|
Hepatosplenomegaly |
Frequent [IBIS]
|
|
11241475; 25755533; 24588457
|
IBIS
|
78 / 7739
|
4
|
(HPO:0001892)
|
Abnormal bleeding |
Frequent [IBIS]
|
|
25755533; 24588457
|
IBIS
|
85 / 7739
|
5
|
(HPO:0000225)
|
Gingival bleeding |
Occasional [IBIS]
Frequent [Orphanet]
|
|
17397330
|
IBIS
|
28 / 7739
|
6
|
(HPO:0006530)
|
Interstitial pulmonary disease |
Occasional [IBIS]
|
|
25755533; 26604942
|
IBIS
|
26 / 7739
|
7
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
26603719
|
IBIS
|
78 / 7739
|
8
|
(HPO:0001394)
|
Cirrhosis |
Occasional [Orphanet]
|
|
25755533
|
IBIS
|
102 / 7739
|
9
|
(HPO:0010702)
|
Increased antibody level in blood |
Occasional [Orphanet]
|
|
24588457
|
IBIS
|
29 / 7739
|
10
|
(HPO:0002758)
|
Osteoarthritis |
Occasional [Orphanet]
|
|
23765538
|
IBIS
|
78 / 7739
|
11
|
(HPO:0001882)
|
Leukopenia |
Occasional [Orphanet]
|
|
25755533; 22046515
|
IBIS
|
51 / 7739
|
12
|
(HPO:0000978)
|
Bruising susceptibility |
Frequent [Orphanet]
|
|
25755533
|
IBIS
|
123 / 7739
|
13
|
(HPO:0000093)
|
Proteinuria |
Occasional [Orphanet]
|
|
16253723
|
IBIS
|
169 / 7739
|
14
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
3385740; 25755533; 24588457; 12919144
|
IBIS
|
224 / 7739
|
15
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
25755533
|
IBIS
|
68 / 7739
|
16
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
11241475; 25755533; 24588457; 12919144
|
IBIS
|
75 / 7739
|
17
|
(HPO:0002027)
|
Abdominal pain |
Frequent [Orphanet]
|
|
25755533
|
IBIS
|
184 / 7739
|
18
|
(HPO:0002092)
|
Pulmonary hypertension |
Occasional [Orphanet]
|
|
25755533
|
IBIS
|
109 / 7739
|
19
|
(HPO:0000790)
|
Hematuria |
Occasional [Orphanet]
|
|
12581195
|
IBIS
|
106 / 7739
|
20
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
26604942
|
IBIS
|
110 / 7739
|
21
|
(HPO:0001876)
|
Pancytopenia |
Frequent [Orphanet]
|
|
11241475
|
IBIS
|
89 / 7739
|
22
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
25755533
|
IBIS
|
289 / 7739
|
23
|
(HPO:0010885)
|
Aseptic necrosis |
Very frequent [Orphanet]
|
|
3385740; 25755533; 24588457; 26604942
|
IBIS
|
24 / 7739
|
24
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
11241475; 25755533; 12919144
|
IBIS
|
337 / 7739
|
25
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
11241475; 25755533
|
IBIS
|
467 / 7739
|
26
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
25755533
|
IBIS
|
250 / 7739
|
27
|
(HPO:0000421)
|
Epistaxis |
|
|
11241475; 25755533
|
IBIS
|
85 / 7739
|
28
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
25755533
|
IBIS
|
126 / 7739
|
29
|
(HPO:0001971)
|
Hypersplenism |
|
|
25755533
|
IBIS
|
8 / 7739
|
30
|
(HPO:0002094)
|
Dyspnea |
|
|
25755533
|
IBIS
|
132 / 7739
|
31
|
(HPO:0002756)
|
Pathologic fracture |
|
|
25755533; 26604943
|
IBIS
|
30 / 7739
|
32
|
(HPO:0001369)
|
Arthritis |
|
|
3385740; 22046515
|
IBIS
|
44 / 7739
|
33
|
(HPO:0002953)
|
Vertebral compression fractures |
|
|
3385740
|
IBIS
|
14 / 7739
|
34
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
25755533
|
IBIS
|
165 / 7739
|
35
|
(HPO:0004975)
|
Erlenmeyer flask deformity of the femurs |
|
|
25755533
|
IBIS
|
8 / 7739
|
36
|
(HPO:0006775)
|
Multiple myeloma |
|
|
25755533
|
IBIS
|
10 / 7739
|
37
|
(OMIM)
|
Bone crises |
|
|
25755533
|
IBIS
|
3 / 7739
|
38
|
(OMIM)
|
Avascular necrosis of femoral head |
|
|
24588457
|
IBIS
|
2 / 7739
|
39
|
(OMIM)
|
Increased risk for multiple myeloma |
|
|
24588457
|
IBIS
|
1 / 7739
|
40
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
25755533
|
IBIS
|
156 / 7739
|
41
|
(HPO:0005743)
|
Avascular necrosis of the capital femoral epiphysis |
|
|
3342593; 3385740; 25755533
|
IBIS
|
17 / 7739
|
42
|
(HPO:0003084)
|
Fractures of the long bones |
|
|
3385740
|
IBIS
|
5 / 7739
|
43
|
(HPO:0003365)
|
Arthralgia of the hip |
|
|
3385740; 11241475
|
IBIS
|
10 / 7739
|
44
|
(HPO:0030157)
|
Flank pain |
|
|
11241475
|
IBIS
|
5 / 7739
|
45
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
11241475
|
IBIS
|
36 / 7739
|
46
|
(HPO:0002754)
|
Osteomyelitis |
|
|
11241475; 26604943
|
IBIS
|
37 / 7739
|
47
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
11241475
|
IBIS
|
73 / 7739
|
48
|
(HPO:0100539)
|
Periorbital edema |
|
|
11241475
|
IBIS
|
8 / 7739
|
49
|
(HPO:0002650)
|
Scoliosis |
|
|
25755533
|
IBIS
|
705 / 7739
|
50
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
25755533
|
IBIS
|
64 / 7739
|
51
|
(HPO:0000938)
|
Osteopenia |
|
|
25755533
|
IBIS
|
138 / 7739
|
52
|
(HPO:0005789)
|
Generalized osteosclerosis |
|
|
25755533
|
IBIS
|
10 / 7739
|
53
|
(MedDRA:10059186)
|
Early satiety |
|
|
25755533
|
IBIS
|
4 / 7739
|
54
|
(HPO:0002014)
|
Diarrhea |
|
|
25755533
|
IBIS
|
225 / 7739
|
55
|
(MedDRA:10041648)
|
Splenic infarction |
|
|
25755533
|
IBIS
|
3 / 7739
|
56
|
(HPO:0001743)
|
Abnormality of the spleen |
|
|
25755533
|
IBIS
|
37 / 7739
|
57
|
(HPO:0001409)
|
Portal hypertension |
|
|
25755533
|
IBIS
|
39 / 7739
|
58
|
(HPO:0001081)
|
Cholelithiasis |
|
|
25755533; 11987238
|
IBIS
|
36 / 7739
|
59
|
(HPO:0012378)
|
Fatigue |
|
|
25755533
|
IBIS
|
50 / 7739
|
60
|
(HPO:0002875)
|
Exertional dyspnea |
|
|
25755533
|
IBIS
|
29 / 7739
|
61
|
(HPO:0000132)
|
Menorrhagia |
|
|
25755533
|
IBIS
|
40 / 7739
|
62
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
25755533
|
IBIS
|
254 / 7739
|
63
|
(HPO:0001279)
|
Syncope |
|
|
25755533
|
IBIS
|
94 / 7739
|
64
|
(MedDRA:10052274)
|
Hepatopulmonary syndrome |
|
|
25755533
|
IBIS
|
3 / 7739
|
65
|
(HPO:0001217)
|
Clubbing |
|
|
25755533
|
IBIS
|
39 / 7739
|
66
|
(HPO:0000961)
|
Cyanosis |
|
|
25755533
|
IBIS
|
60 / 7739
|
67
|
(HPO:0012764)
|
Orthopnea |
|
|
25755533
|
IBIS
|
9 / 7739
|
68
|
(HPO:0007420)
|
Spontaneous hematomas |
|
|
25755533
|
IBIS
|
9 / 7739
|
69
|
(HPO:0000967)
|
Petechiae |
|
|
25755533
|
IBIS
|
26 / 7739
|
70
|
(HPO:0005146)
|
Cardiac valve calcification |
|
|
25755533
|
IBIS
|
4 / 7739
|
71
|
(HPO:0001635)
|
Congestive heart failure |
|
|
25755533
|
IBIS
|
232 / 7739
|
72
|
(HPO:0011675)
|
Arrhythmia |
|
|
25755533
|
IBIS
|
226 / 7739
|
73
|
(MedDRA:10035060)
|
Pinguecula |
|
|
25755533
|
IBIS
|
4 / 7739
|
74
|
(HPO:0007957)
|
Corneal opacity |
|
|
25755533
|
IBIS
|
84 / 7739
|
75
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
25755533
|
IBIS
|
129 / 7739
|
76
|
(HPO:0004377)
|
Hematological neoplasm |
|
|
25755533
|
IBIS
|
12 / 7739
|
77
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
25755533
|
IBIS
|
25 / 7739
|
78
|
(HPO:0003270)
|
Abdominal distention |
|
|
25755533
|
IBIS
|
46 / 7739
|
79
|
(OMIM)
|
Gaucher cells in bone marrow |
|
|
25755533
|
IBIS
|
5 / 7739
|
80
|
(HPO:0001928)
|
Abnormality of coagulation |
|
|
25755533
|
IBIS
|
44 / 7739
|
81
|
(HPO:0011869)
|
Abnormal platelet function |
|
|
25755533
|
IBIS
|
12 / 7739
|
82
|
(HPO:0001510)
|
Growth delay |
|
|
25755533
|
IBIS
|
295 / 7739
|
83
|
(HPO:0000823)
|
Delayed puberty |
|
|
25755533
|
IBIS
|
65 / 7739
|
84
|
(HPO:0001508)
|
Failure to thrive |
|
|
25755533
|
IBIS
|
454 / 7739
|
85
|
(HPO:0001263)
|
Global developmental delay |
|
|
25755533
|
IBIS
|
853 / 7739
|
86
|
(HPO:0000939)
|
Osteoporosis |
|
|
25755533; 26604943
|
IBIS
|
129 / 7739
|
87
|
(HPO:0005561)
|
Abnormality of bone marrow cell morphology |
|
|
25755533
|
IBIS
|
11 / 7739
|
88
|
(HPO:0001974)
|
Leukocytosis |
|
|
25755533
|
IBIS
|
33 / 7739
|
89
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
25755533
|
IBIS
|
67 / 7739
|
90
|
(HPO:0003281)
|
Increased serum ferritin |
|
|
24588457
|
IBIS
|
32 / 7739
|
91
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
|
|
12919144
|
IBIS
|
105 / 7739
|