|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
|
|
42 / 7739
|
|
2
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
3
|
(HPO:0000790)
|
Hematuria |
rare [HPO:skoehler]
|
|
|
|
106 / 7739
|
|
4
|
(HPO:0002910)
|
Elevated hepatic transaminases |
rare [HPO:skoehler]
|
|
|
|
158 / 7739
|
|
5
|
(HPO:0003076)
|
Glycosuria |
|
|
|
|
32 / 7739
|
|
6
|
(HPO:0003259)
|
Elevated serum creatinine |
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
|
8
|
(OMIM)
|
Atrophic kidneys |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Large nuclei (karyomegaly) in renal tubules seen renal biopsy |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Hyperchromatic nuclei |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Glomerular sclerosis |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Interstitial fibrosis |
|
|
|
|
24 / 7739
|
|
13
|
(OMIM)
|
Atrophic tubules |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Cystic dilation of tubules (in some patients) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Chronic inflammatory infiltrate, mild |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Increased BUN |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0002907)
|
Microscopic hematuria |
|
|
|
|
27 / 7739
|
|
18
|
(OMIM)
|
Karyomegaly may be found in other visceral organs |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0001970)
|
Tubulointerstitial nephritis |
|
|
|
|
27 / 7739
|
|
21
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|