|
1
|
(HPO:0000790)
|
Hematuria |
|
|
|
|
106 / 7739
|
|
2
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0004722)
|
Thickening of the glomerular basement membrane |
|
|
|
|
12 / 7739
|
|
4
|
(HPO:0004746)
|
Dense deposit disease |
|
|
|
|
2 / 7739
|
|
5
|
(HPO:0005369)
|
Decreased serum complement factor H |
|
|
|
|
4 / 7739
|
|
6
|
(HPO:0005389)
|
Depletion of components of the alternative complement pathway |
|
|
|
|
2 / 7739
|
|
7
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
|
|
32 / 7739
|
|
8
|
(OMIM)
|
Thickening of the glomerular basement membrane on renal biopsy |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Deposition of complement component C3 in glomerular basement membrane |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Continuous activation of the alternative complement pathway |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Hypocomplementemia |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Increased susceptibility to certain bacterial infections, especially Neisseria meningitidis |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Normal levels of complement factor H, but impaired function |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
17
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|