|
1
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
2
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
4
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
6
|
(HPO:0001649)
|
Tachycardia |
|
|
|
|
53 / 7739
|
|
7
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
8
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
9
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
|
10
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
11
|
(OMIM)
|
Muscular paralysis |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Elevated fecal levels of protoporphyrin and coproporphyrin at all times |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Increased urine porphyrins at times |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Increased urinary porphyrin precursors porphobilinogen (PBG) and delta-aminolevulinic acid (ALA) during acute attacks |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Reduced (50%) activity of protoporphyrinogen oxidase (PROTO oxidase) |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
17
|
(HPO:0010473)
|
Porphyrinuria |
|
|
|
|
2 / 7739
|