|
1
|
(HPO:0001278)
|
Orthostatic hypotension |
Very frequent [IBIS]
|
|
27778639
|
IBIS
|
24 / 7739
|
|
2
|
(OMIM)
|
Undetectable norepinephrine (noradrenaline) in plasma, urine, CSF |
Very frequent [IBIS]
|
|
27778639
|
IBIS
|
1 / 7739
|
|
3
|
(HPO:0012099)
|
Abnormality of circulating catecholamine level |
Very frequent [IBIS]
|
|
27778639
|
IBIS
|
2 / 7739
|
|
4
|
(HPO:0011979)
|
Elevated urinary dopamine |
Very frequent [IBIS]
|
|
27778639
|
IBIS
|
2 / 7739
|
|
5
|
(HPO:0000017)
|
Nocturia |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
7
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001998)
|
Neonatal hypoglycemia |
|
|
|
|
22 / 7739
|
|
10
|
(HPO:0005964)
|
Intermittent hypothermia |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Delayed eye opening as a neonate (up to 2 weeks) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Nasal stuffiness |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Orthostatic hypotension, severe, recurrent |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Fainting spells |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Impaired ejaculation due to impaired sympathetic activity |
|
|
|
|
1 / 7739
|
|
16
|
(MedDRA:10038967)
|
Retrograde ejaculation |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Seizures may occur during hypotensive episodes |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Hypoglycemia, episodic, in infants |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Hypothermia, episodic, in infants |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Undetectable epinephrine (adrenaline) in plasma, urine, CSF |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Greatly increased dopamine in plasma, urine, CSF (approximately 10-fold increase) |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Increased plasma dihydroxyphenylacetic acid (DOPAC) |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Stimulation of sympathetic fibers results in release of dopamine, not norepinephrine |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Undetectable dopamine beta-hydroxylase (DBH) protein in plasma, CSF, or sympathetic fibers |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Undetectable plasma DBH activity |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Decreased serum prolactin |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
28
|
(HPO:0012877)
|
Retrograde ejaculation |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0000842)
|
Hyperinsulinemia |
|
|
27778639
|
IBIS
|
39 / 7739
|
|
30
|
(HPO:0000855)
|
Insulin resistance |
|
|
27778639
|
IBIS
|
32 / 7739
|