|
1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0000153)
|
Abnormality of the mouth |
|
|
|
|
60 / 7739
|
|
3
|
(HPO:0000573)
|
Retinal hemorrhage |
|
|
|
|
13 / 7739
|
|
4
|
(HPO:0000608)
|
Macular degeneration |
|
|
|
|
36 / 7739
|
|
5
|
(HPO:0001034)
|
Hypermelanotic macule |
|
|
|
|
22 / 7739
|
|
6
|
(HPO:0001102)
|
Angioid streaks of the retina |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0001297)
|
Stroke |
|
|
|
|
44 / 7739
|
|
8
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
9
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
|
10
|
(HPO:0001681)
|
Angina pectoris |
|
|
|
|
22 / 7739
|
|
11
|
(HPO:0001718)
|
Mitral stenosis |
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0001723)
|
Restrictive cardiomyopathy |
|
|
|
|
22 / 7739
|
|
13
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
|
|
|
|
97 / 7739
|
|
14
|
(HPO:0004417)
|
Intermittent claudication |
|
|
|
|
10 / 7739
|
|
15
|
(HPO:0004943)
|
Accelerated atherosclerosis |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|
|
17
|
(HPO:0100817)
|
Renovascular hypertension |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
|
18
|
(OMIM)
|
Peau d'orange retinal changes |
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0000505)
|
Visual impairment |
Typical [HPO:probinson]
|
|
|
|
297 / 7739
|
|
20
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
21
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
22
|
(OMIM)
|
Central vision loss |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Colloid bodies |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Choroidal neovascularization |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Optic head drusen (yellowish-white irregularities of optic disc) |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Owl's eyes (paired hyperpigmented spots) |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Mucosal PXE lesions (inner aspect lower lip, cheeks, and palate) |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Calcifications |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0001677)
|
Coronary artery disease |
|
|
|
|
58 / 7739
|
|
30
|
(OMIM)
|
Absent peripheral pulses |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Uterine hemorrhage |
|
|
|
|
2 / 7739
|
|
32
|
(MedDRA:10046528)
|
Urinary bladder haemorrhage |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Progression of skin lesions - |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
1. yellowish, flat papules (neck, antecubital and popliteal fossae, axillae, inguinal, and periumbilical areas) |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
2. yellowish, flat plaques |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
3. lax, wrinkled skin |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Extrusion of calcium deposits ('perforating PXE') |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Acneiform lesions (rare) |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Chronic granulomatous nodules (rare) |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Brown macules in a reticulate pattern (rare) |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|