1
|
(HPO:0100735)
|
Hypertensive crisis |
Frequent [Orphanet]
|
|
|
|
9 / 7739
|
2
|
(HPO:0000738)
|
Hallucinations |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
3
|
(HPO:0003326)
|
Myalgia |
Very frequent [Orphanet]
|
|
|
|
143 / 7739
|
4
|
(HPO:0012086)
|
Abnormal urinary color |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
5
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
6
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
7
|
(HPO:0002039)
|
Anorexia |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
8
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
9
|
(HPO:0005059)
|
Arthralgia/arthritis |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
10
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
11
|
(HPO:0100785)
|
Insomnia |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
12
|
(HPO:0011675)
|
Arrhythmia |
Frequent [Orphanet]
|
|
|
|
226 / 7739
|
13
|
(HPO:0002896)
|
Neoplasm of the liver |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
14
|
(HPO:0002902)
|
Hyponatremia |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
15
|
(HPO:0002027)
|
Abdominal pain |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
16
|
(HPO:0006824)
|
Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
17
|
(HPO:0100518)
|
Dysuria |
|
|
|
|
8 / 7739
|
18
|
(HPO:0006597)
|
Diaphragmatic paralysis |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
19
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
20
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
21
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
22
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
23
|
(HPO:0002017)
|
Nausea and vomiting |
Very frequent [Orphanet]
|
|
|
|
134 / 7739
|
24
|
(HPO:0002018)
|
Nausea |
|
|
|
|
44 / 7739
|
25
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
26
|
(HPO:0000016)
|
Urinary retention |
|
|
|
|
7 / 7739
|
27
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
28
|
(HPO:0000725)
|
Psychotic episodes |
|
|
|
|
6 / 7739
|
29
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
30
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
|
|
25 / 7739
|
31
|
(HPO:0001649)
|
Tachycardia |
|
|
|
|
53 / 7739
|
32
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
33
|
(HPO:0002203)
|
Respiratory paralysis |
|
|
|
|
4 / 7739
|
34
|
(HPO:0002590)
|
Paralytic ileus |
|
|
|
|
4 / 7739
|
35
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
36
|
(HPO:0003163)
|
Elevated urinary delta-aminolevulinic acid |
|
|
|
|
4 / 7739
|
37
|
(HPO:0003470)
|
Paralysis |
|
|
|
|
11 / 7739
|
38
|
(HPO:0003489)
|
Acute episodes of neuropathic symptoms |
|
|
|
|
2 / 7739
|
39
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
40
|
(OMIM)
|
Paraesthesias |
|
|
|
|
1 / 7739
|
41
|
(OMIM)
|
Motor, sensory, or autonomic neuropathy |
|
|
|
|
1 / 7739
|
42
|
(OMIM)
|
Syndrome of inappropriate antidiuretic hormone (SIADH) |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Erythrocyte porphobilinogen (PBG) deaminase deficiency (exception: type II AIP) |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Increased urinary delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) during acute attacks |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Urine occasionally port-wine in color secondary to porphobilinogen |
|
|
|
|
1 / 7739
|
46
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
47
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
48
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
49
|
(HPO:0000763)
|
Sensory neuropathy |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
50
|
(HPO:0011037)
|
Decreased urine output |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
51
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
52
|
(HPO:0003401)
|
Paresthesia |
|
|
|
|
42 / 7739
|