1
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
2
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
3
|
(HPO:0000789)
|
Infertility |
|
|
|
|
74 / 7739
|
4
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
5
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
6
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
9
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
10
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
11
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
12
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
13
|
(HPO:0001824)
|
Weight loss |
|
|
|
|
42 / 7739
|
14
|
(HPO:0001891)
|
Iron deficiency anemia |
|
|
|
|
22 / 7739
|
15
|
(HPO:0001894)
|
Thrombocytosis |
|
|
|
|
16 / 7739
|
16
|
(HPO:0001972)
|
Macrocytic anemia |
|
|
|
|
26 / 7739
|
17
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
18
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
19
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
20
|
(HPO:0002514)
|
Cerebral calcification |
|
|
|
|
89 / 7739
|
21
|
(HPO:0002570)
|
Steatorrhea |
|
|
|
|
31 / 7739
|
22
|
(HPO:0002608)
|
Celiac disease |
|
|
|
|
5 / 7739
|
23
|
(HPO:0002665)
|
Lymphoma |
|
|
|
|
60 / 7739
|
24
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
25
|
(HPO:0002748)
|
Rickets |
|
|
|
|
41 / 7739
|
26
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
27
|
(HPO:0002901)
|
Hypocalcemia |
|
|
|
|
56 / 7739
|
28
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
29
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
30
|
(HPO:0003645)
|
Prolonged partial thromboplastin time |
|
|
|
|
20 / 7739
|
31
|
(HPO:0004298)
|
Abnormality of the abdominal wall |
|
|
|
|
20 / 7739
|
32
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
33
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
34
|
(HPO:0008151)
|
Prolonged prothrombin time |
|
|
|
|
13 / 7739
|
35
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
36
|
(HPO:0011107)
|
Recurrent aphthous stomatitis |
|
|
|
|
13 / 7739
|
37
|
(HPO:0011892)
|
Vitamin K deficiency |
|
|
|
|
4 / 7739
|
38
|
(HPO:0003223)
|
Decreased methylcobalamin |
|
|
|
|
11 / 7739
|
39
|
(HPO:0100502)
|
Vitamin B12 deficiency |
rare [HPO:skoehler]
|
|
|
|
4 / 7739
|
40
|
(HPO:0100507)
|
Folate deficiency |
|
|
|
|
2 / 7739
|
41
|
(HPO:0100512)
|
Vitamin D deficiency |
|
|
|
|
2 / 7739
|
42
|
(HPO:0100651)
|
Type I diabetes mellitus |
|
|
|
|
44 / 7739
|
43
|
(OMIM)
|
Hypoplastic dental enamel |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Recurrent abdominal pain |
|
|
|
|
3 / 7739
|
45
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
|
|
51 / 7739
|
46
|
(OMIM)
|
Small intestine inflammation |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Flattened villi |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Hyperplastic crypts |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Increased intraepithelial lymphocytes |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Infiltration of lamina propria with plasma cells and lymphocytes |
|
|
|
|
1 / 7739
|
51
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
|
|
110 / 7739
|
52
|
(MedDRA:10012468)
|
Dermatitis herpetiformis |
|
|
|
|
2 / 7739
|
53
|
(MedDRA:10023369)
|
Keratosis follicular |
|
|
|
|
5 / 7739
|
54
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
55
|
(OMIM)
|
Type 1 diabetes |
|
|
|
|
1 / 7739
|
56
|
(MedDRA:10049046)
|
Autoimmune thyroiditis |
|
|
|
|
1 / 7739
|
57
|
(MedDRA:10022704)
|
Intestinal T-cell lymphomas |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Small bowel cancer |
|
|
|
|
1 / 7739
|
59
|
(MedDRA:10034811)
|
Pharyngeal cancer |
|
|
|
|
1 / 7739
|
60
|
(HPO:0100751)
|
Esophageal neoplasm |
|
|
|
|
8 / 7739
|
61
|
(OMIM)
|
IigA and IgG antigliadin antibodies (AGA) |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
IgA antiendomysial antibodies (EMA) |
|
|
|
|
1 / 7739
|
63
|
(OMIM)
|
Anti-tissue transglutaminase antibodies (anti-tTG) |
|
|
|
|
1 / 7739
|
64
|
(OMIM)
|
Elevated liver transaminases |
|
|
|
|
2 / 7739
|
65
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
66
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
67
|
(HPO:0001426)
|
Multifactorial inheritance |
|
|
|
|
37 / 7739
|