|
1
|
(HPO:0003281)
|
Increased serum ferritin |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
16351644; 10471458; 11431687; 18160816; 16258219; 20230395; 19937651; 12857562; 12123233; 12091367; 14636642
|
IBIS
|
32 / 7739
|
|
2
|
(HPO:0011031)
|
Abnormality of iron homeostasis |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
16351644
|
IBIS
|
16 / 7739
|
|
3
|
(HPO:0002829)
|
Arthralgia |
Occasional[IBIS]
Very frequent [Orphanet]
|
|
11431687; 21199650
|
IBIS
|
79 / 7739
|
|
4
|
(HPO:0001397)
|
Hepatic steatosis |
Frequent [Orphanet]
|
|
18160816; 20230395
|
IBIS
|
75 / 7739
|
|
5
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Very frequent [Orphanet]
hallmark [HPO]
|
|
10471458; 21199650
|
IBIS
|
75 / 7739
|
|
6
|
(HPO:0012378)
|
Fatigue |
|
|
16351644; 11431687; 12857562; 12091367
|
IBIS
|
50 / 7739
|
|
7
|
(HPO:0012465)
|
Elevated hepatic iron concentration |
|
|
16351644; 10471458; 18160816; 16258219; 20230395
|
IBIS
|
8 / 7739
|
|
8
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
11518736; 18160816
|
IBIS
|
67 / 7739
|
|
9
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
11518736; 18160816
|
IBIS
|
131 / 7739
|
|
10
|
(HPO:0000802)
|
Impotence |
|
|
11518736
|
IBIS
|
20 / 7739
|
|
11
|
(HPO:0011675)
|
Arrhythmia |
|
|
11518736
|
IBIS
|
226 / 7739
|
|
12
|
(HPO:0012463)
|
Elevated transferrin saturation |
|
|
10471458; 11431687; 12857562
|
IBIS
|
10 / 7739
|
|
13
|
(HPO:0001952)
|
Abnormal glucose tolerance |
|
|
10471458
|
IBIS
|
9 / 7739
|
|
14
|
(HPO:0002758)
|
Osteoarthritis |
|
|
11431687
|
IBIS
|
78 / 7739
|
|
15
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
11431687
|
IBIS
|
192 / 7739
|
|
16
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
20230395
|
IBIS
|
158 / 7739
|
|
17
|
(OMIM)
|
Normal transferrin saturation |
|
|
20230395; 19937651; 16258219
|
IBIS
|
2 / 7739
|
|
18
|
(HPO:0001369)
|
Arthritis |
|
|
19937651
|
IBIS
|
44 / 7739
|
|
19
|
(HPO:0002014)
|
Diarrhea |
|
|
12857562
|
IBIS
|
225 / 7739
|
|
20
|
(HPO:0001337)
|
Tremor |
|
|
12857562
|
IBIS
|
200 / 7739
|
|
21
|
(HPO:0001903)
|
Anemia |
|
|
12123233
|
IBIS
|
289 / 7739
|
|
22
|
(HPO:0012464)
|
Decreased transferrin saturation |
|
|
12123233
|
IBIS
|
1 / 7739
|
|
23
|
(OMIM)
|
Decreased serum iron |
|
|
12123233
|
IBIS
|
3 / 7739
|
|
24
|
(HPO:0001935)
|
Microcytic anemia |
|
|
14636642
|
IBIS
|
32 / 7739
|
|
25
|
(HPO:0001324)
|
Muscle weakness |
|
|
21199650
|
IBIS
|
859 / 7739
|
|
26
|
(HPO:0003040)
|
Arthropathy |
|
|
21199650
|
IBIS
|
19 / 7739
|
|
27
|
(HPO:0002240)
|
Hepatomegaly |
|
|
21199650
|
IBIS
|
467 / 7739
|