|
1
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
|
2
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
3
|
(OMIM)
|
Increased urinary uroporphyrin |
|
|
|
|
1 / 7739
|
|
4
|
(OMIM)
|
Reduced liver and red cell uroporphyrinogen decarboxylase |
|
|
|
|
2 / 7739
|
|
5
|
(OMIM)
|
Approximately 50% level of uroporphyrinogen (URO) decarboxylase in liver in type I |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
50% deficient activity of uroporphyrinogen (URO) decarboxylase in many tissues in type II |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Liver parenchymal cells filled with porphyrins, and fluoresce bright red in ultraviolet light |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Late adult onset light-sensitive dermatitis |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Blisters and chronic ulcers in sun-exposed areas |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Mechanically fragile skin |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Hyperpigmentation |
|
|
|
|
24 / 7739
|