|
1
|
(HPO:0000103)
|
Polyuria |
|
|
|
|
60 / 7739
|
|
2
|
(HPO:0000127)
|
Renal salt wasting |
|
|
|
|
21 / 7739
|
|
3
|
(HPO:0000128)
|
Renal potassium wasting |
|
|
|
|
6 / 7739
|
|
4
|
(HPO:0000591)
|
Abnormality of the sclera |
|
|
|
|
3 / 7739
|
|
5
|
(HPO:0000610)
|
Abnormality of the choroid |
|
|
|
|
11 / 7739
|
|
6
|
(HPO:0000841)
|
Hyperactive renin-angiotensin system |
|
|
|
|
7 / 7739
|
|
7
|
(HPO:0000848)
|
Increased circulating renin level |
|
|
|
|
14 / 7739
|
|
8
|
(HPO:0000859)
|
Hyperaldosteronism |
|
|
|
|
17 / 7739
|
|
9
|
(HPO:0001944)
|
Dehydration |
|
|
|
|
59 / 7739
|
|
10
|
(HPO:0001960)
|
Hypokalemic metabolic alkalosis |
|
|
|
|
5 / 7739
|
|
11
|
(HPO:0002615)
|
Hypotension |
|
|
|
|
52 / 7739
|
|
12
|
(HPO:0002900)
|
Hypokalemia |
|
|
|
|
45 / 7739
|
|
13
|
(HPO:0002914)
|
Hyperchloriduria |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0003081)
|
Increased urinary potassium |
|
|
|
|
7 / 7739
|
|
15
|
(HPO:0003127)
|
Hypocalciuria |
Occasional [HPO:probinson]
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
17
|
(HPO:0005579)
|
Impaired reabsorption of chloride |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
|
|
|
|
41 / 7739
|
|
19
|
(OMIM)
|
Multifocal yellow-white geographic, solid, choriodal lesions along the retinal vascular arcades |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
B-scan ultrasound shows echogenic, placoid calcified lesions at the level of the sclera and choroid |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Optical coherence tomography shows normal retina and retinal pigment epithelium overlying the sclerochoroidal lesions |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Nephrocalcinosis is absent |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Increased plasma aldosterone |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Increased serum bicarbonate |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Hypocalciuria or normocalciuria |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|