|
1
|
(HPO:0002902)
|
Hyponatremia |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0002027)
|
Abdominal pain |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
4
|
(HPO:0000738)
|
Hallucinations |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
5
|
(HPO:0001289)
|
Confusion |
|
|
|
|
36 / 7739
|
|
6
|
(HPO:0003326)
|
Myalgia |
Very frequent [Orphanet]
|
|
|
|
143 / 7739
|
|
7
|
(HPO:0006597)
|
Diaphragmatic paralysis |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
9
|
(HPO:0005059)
|
Arthralgia/arthritis |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
|
10
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
11
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
12
|
(HPO:0002017)
|
Nausea and vomiting |
Very frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
13
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
14
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
15
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
16
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
17
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
|
18
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
19
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
20
|
(HPO:0001649)
|
Tachycardia |
|
|
|
|
53 / 7739
|
|
21
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
22
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
23
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
24
|
(HPO:0002203)
|
Respiratory paralysis |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
26
|
(HPO:0003489)
|
Acute episodes of neuropathic symptoms |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
28
|
(HPO:0004804)
|
Congenital hemolytic anemia |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
30
|
(HPO:0011999)
|
Paranoia |
|
|
|
|
6 / 7739
|
|
31
|
(HPO:0100785)
|
Insomnia |
|
|
|
|
18 / 7739
|
|
32
|
(HPO:0001649)
|
Tachycardia |
|
|
|
|
53 / 7739
|
|
33
|
(OMIM)
|
Severe constipation |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
|
|
51 / 7739
|
|
35
|
(MedDRA:10033985)
|
Paresis |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0000740)
|
Episodic paroxysmal anxiety |
|
|
|
|
8 / 7739
|
|
37
|
(OMIM)
|
Decreased coproporphyrinogen oxidase activity (HCP, lymphocytes, 50% of normal) |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Increased coproporphyrin isomer III:I ratio (HCP, feces) |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Increased harderoporphyrin excretion (feces, harderoporphyria) |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Markedly decreased coproporphyrinogen oxidase activity (harderoporphyria, lymphocytes) |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
42
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|