ORTHYP1
MCID: ORT011
MIFTS: 43

Orthostatic Hypotension 1 (ORTHYP1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Orthostatic Hypotension 1

MalaCards integrated aliases for Orthostatic Hypotension 1:

Name: Orthostatic Hypotension 1 57 72 29 6
Norepinephrine Deficiency 57 58 72
Noradrenaline Deficiency 57 58 72
Dopamine Beta-Hydroxylase Deficiency 58 72
Orthyp1 57 72
Dopamine Beta-Hydroxylase Deficiency, Congenital 57
Orthostatic Hypotension 1, Due to Dbh Deficiency 57
Dopamine Beta Hydroxylase Deficiency 70
Hypotension, Orthostatic 44
Dbh Deficiency 72

Characteristics:

Orphanet epidemiological data:

58
dopamine beta-hydroxylase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
orthostatic hypotension 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 223360
OMIM Phenotypic Series 57 PS223360
MeSH 44 D007024
MESH via Orphanet 45 C535600
ICD10 via Orphanet 33 G90.8
UMLS via Orphanet 71 C0342687
Orphanet 58 ORPHA230
UMLS 70 C0342687

Summaries for Orthostatic Hypotension 1

UniProtKB/Swiss-Prot : 72 Orthostatic hypotension 1: A form of orthostatic hypotension due to congenital dopamine beta- hydroxylase deficiency. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. ORTHYP1 is an autosomal recessive condition apparent from infancy or early childhood and characterized by low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia.

MalaCards based summary : Orthostatic Hypotension 1, also known as norepinephrine deficiency, is related to dopamine beta-hydroxylase deficiency and orthostatic hypotension 2, and has symptoms including nasal congestion (finding) An important gene associated with Orthostatic Hypotension 1 is DBH (Dopamine Beta-Hydroxylase). The drugs Fludrocortisone and Midodrine have been mentioned in the context of this disorder. Affiliated tissues include eye and spinal cord, and related phenotypes are orthostatic hypotension and nocturia

OMIM® : 57 Orthostatic hypotension-1 (ORTHYP1) is an autosomal recessive disorder characterized by profound autonomic failure. In addition to severe orthostatic hypotension, ptosis, nasal stuffiness, impaired ejaculation, and a neonatal history of delayed eye opening are frequent findings. Biochemical features include undetectable tissue and circulating levels of norepinephrine and epinephrine, elevated levels of dopamine, and undetectable levels of dopamine beta-hydroxylase (summary by Kim et al., 2002). (223360) (Updated 05-Apr-2021)

Related Diseases for Orthostatic Hypotension 1

Graphical network of the top 20 diseases related to Orthostatic Hypotension 1:



Diseases related to Orthostatic Hypotension 1

Symptoms & Phenotypes for Orthostatic Hypotension 1

Human phenotypes related to Orthostatic Hypotension 1:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 orthostatic hypotension 58 31 Very frequent (99-80%) HP:0001278
2 nocturia 58 31 Occasional (29-5%) HP:0000017
3 retrograde ejaculation 58 31 Frequent (79-30%) HP:0012877
4 sleep disturbance 58 Frequent (79-30%)
5 ptosis 31 HP:0000508
6 hypothermia 58 Occasional (29-5%)
7 high palate 31 HP:0000218
8 muscular hypotonia 58 Occasional (29-5%)
9 dehydration 58 Occasional (29-5%)
10 vomiting 58 Occasional (29-5%)
11 fatigue 58 Frequent (79-30%)
12 hypoglycemia 58 Frequent (79-30%)
13 anemia 58 Frequent (79-30%)
14 hyperinsulinemia 58 Very rare (<4-1%)
15 reduced tendon reflexes 58 Frequent (79-30%)
16 dyspnea 58 Occasional (29-5%)
17 vertigo 58 Occasional (29-5%)
18 chest pain 58 Occasional (29-5%)
19 neonatal hypoglycemia 31 HP:0001998
20 syncope 58 Frequent (79-30%)
21 insulin resistance 58 Very rare (<4-1%)
22 diarrhea 58 Occasional (29-5%)
23 blurred vision 58 Occasional (29-5%)
24 rhinitis 58 Very frequent (99-80%)
25 abnormal ekg 58 Occasional (29-5%)
26 exercise-induced muscle fatigue 58 Frequent (79-30%)
27 elevated serum creatinine 58 Frequent (79-30%)
28 bilateral ptosis 58 Very frequent (99-80%)
29 increased blood urea nitrogen 58 Frequent (79-30%)
30 elevated urinary dopamine 58 Very frequent (99-80%)
31 orthostatic syncope 58 Occasional (29-5%)
32 seizure 31 HP:0001250
33 intermittent hypothermia 31 HP:0005964

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
delayed eye opening as a neonate (up to 2 weeks)

Genitourinary Internal Genitalia Male:
retrograde ejaculation
impaired ejaculation due to impaired sympathetic activity

Head And Neck Nose:
nasal stuffiness

Neurologic Central Nervous System:
seizures may occur during hypotensive episodes

Laboratory Abnormalities:
undetectable norepinephrine (noradrenaline) in plasma, urine, csf
undetectable epinephrine (adrenaline) in plasma, urine, csf
greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase)
increased plasma dihydroxyphenylacetic acid (dopac)
stimulation of sympathetic fibers results in release of dopamine, not norepinephrine
more
Genitourinary Bladder:
nocturia

Head And Neck Mouth:
high-arched palate

Cardiovascular Vascular:
orthostatic hypotension, severe, recurrent
fainting spells

Metabolic Features:
hypoglycemia, episodic, in infants
hypothermia, episodic, in infants

Clinical features from OMIM®:

223360 (Updated 05-Apr-2021)

UMLS symptoms related to Orthostatic Hypotension 1:


nasal congestion (finding)

Drugs & Therapeutics for Orthostatic Hypotension 1

Drugs for Orthostatic Hypotension 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 190)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludrocortisone Approved, Investigational Phase 4 127-31-1 31378
2
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
3 Anti-Inflammatory Agents Phase 4
4 Neurotransmitter Agents Phase 4
5 Adrenergic Agonists Phase 4
6 Adrenergic alpha-Agonists Phase 4
7 Sympathomimetics Phase 4
8 Vasoconstrictor Agents Phase 4
9 Adrenergic Agents Phase 4
10
tannic acid Approved Phase 2, Phase 3 1401-55-4
11
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
12
Levodopa Approved Phase 3 59-92-7 6047
13
Methyldopa Approved Phase 3 555-30-6 38853
14
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
15
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
16 Atomoxetine Hydrochloride Phase 3
17 Gastrointestinal Agents Phase 3
18 Antiemetics Phase 3
19 Dopamine Antagonists Phase 3
20 Sympatholytics Phase 3
21 alpha-Methyltyrosine Phase 3
22 diuretics Phase 3
23
Nitric Oxide Approved Phase 2 10102-43-9 145068
24
Dopamine Approved Phase 1, Phase 2 62-31-7, 51-61-6 681
25
Droxidopa Approved, Investigational Phase 1, Phase 2 23651-95-8 443940
26
Norepinephrine Approved Phase 1, Phase 2 51-41-2 439260
27
Carbidopa Approved Phase 1, Phase 2 28860-95-9 34359
28
Entacapone Approved, Investigational Phase 1, Phase 2 130929-57-6 5281081
29 NG-Nitroarginine Methyl Ester Phase 2
30 Cholinergic Agents Phase 2
31 Pyridostigmine Bromide Phase 2 101-26-8
32 Anticonvulsants Phase 2
33 Bromides Phase 2
34 Cholinesterase Inhibitors Phase 2
35 Antiparkinson Agents Phase 1, Phase 2
36 Dopamine Agents Phase 1, Phase 2
37 Aromatic Amino Acid Decarboxylase Inhibitors Phase 1, Phase 2
38 Catechol Phase 1, Phase 2
39
Domperidone Approved, Investigational, Vet_approved Phase 1 57808-66-9 3151
40
Modafinil Approved, Investigational Phase 1 68693-11-8 4236
41
Acarbose Approved, Investigational Phase 1 56180-94-0 441184
42
Celecoxib Approved, Investigational Phase 1 169590-42-5 2662
43
Methylphenidate Approved, Investigational Phase 1 113-45-1 4158
44
Promethazine Approved, Investigational Phase 1 60-87-7 4927
45
Tranylcypromine Approved, Investigational Phase 1 155-09-9 441233
46
Ranitidine Approved, Withdrawn Phase 1 66357-35-5, 66357-59-3, 82530-72-1 3001055
47
Acetazolamide Approved, Vet_approved Phase 1 59-66-5 1986
48
Histamine Approved, Investigational Phase 1 51-45-6, 75614-87-8 774
49
Indomethacin Approved, Investigational Phase 1 53-86-1 3715
50
Rivastigmine Approved, Investigational Phase 1 123441-03-2 77991

Interventional clinical trials:

(show top 50) (show all 107)
# Name Status NCT ID Phase Drugs
1 A Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Crossover Study to Assess the Clinical Benefit of Midodrine Hydrochloride in Patients With Neurogenic Orthostatic Hypotension Completed NCT00046475 Phase 4 Midodrine Hydrochloride
2 A Multi-Center, Double-Blind, Randomized, Placebo-controlled, Crossover Study to Assess the Clinical Benefit of Midodrine Hydrochloride in Subjects With Moderate to Severe Neurogenic Orthostatic Hypotension Completed NCT00555880 Phase 4 Midodrine hydrochloride;Placebo
3 Efficacy and Safety of Midodrine and Atomoxetine Treatment in Patients With Neurogenic Orthostatic Hypotension : A Prospective Randomized Study Completed NCT03350659 Phase 4 Midodrine;Atomoxetine
4 Treatment and Prognosis of Neurogenic Orthostatic Hypotension : A Prospective Randomized Study Completed NCT02308124 Phase 4 Midodrine;Pyridostigmine Bromide;Midodrine + pyridostigmine
5 Dawn Simulation as a Passive Countermeasure to Postural Hypotension in Healthy Older Adults Completed NCT02632318 Phase 4
6 A Phase 4, Randomized, Double-blind, Placebo-controlled, Crossover Study to Investigate the Clinical Benefit of Midodrine Hydrochloride in Male and Female Subjects With Symptomatic Orthostatic Hypotension Completed NCT01518946 Phase 4 Midodrine HCl;Placebo
7 A Phase 4, Randomized-withdrawal, Double-blind, Placebo Controlled, Parallel-group Study to Investigate the Clinical Benefit of Midodrine Hydrochloride in Male and Female Subjects With Symptomatic Orthostatic Hypotension Completed NCT01515865 Phase 4 Midodrine HCl;Placebo
8 Dose Response to the Norepinephrine Precursor Droxidopa in Hypotensive Individuals With Spinal Cord Injury Recruiting NCT03602014 Phase 4 Northera
9 RESTORE: A Clinical Study of Patients With Symptomatic Neurogenic Orthostatic Hypotension to Assess Sustained Effects of Droxidopa Therapy Recruiting NCT02586623 Phase 4 Droxidopa capsules;Placebo capsules
10 Evaluation of Efficacy and Tolerance of Fludrocortisone (Flucortac) in the Treatment of Orthostatic Neurogenic Hypotension Recruiting NCT04128137 Phase 4 Fludrocortisone
11 Evaluation of Brain Perfusion and Oxygenation in PD Patients With Neurogenic Orthostatic Hypotension: 4 Week Comparison of Droxidopa Versus Placebo Recruiting NCT03229174 Phase 4 Droxidopa;Placebo
12 Technology-Based Objective Measures for Gait and Postural Assessment in Parkinson Disease Patients With Orthostatic Hypotension: Feasibility and Effect-Size Finding Study Recruiting NCT04510922 Phase 4 Droxidopa 100 MG [Northera]
13 RANDOMIZED CASE-CONTROLLED TRIAL ASSESSING MIDODRINE (GUTRON®) IN POSTOPERATIVE VASOPLEGIC PATIENTS Not yet recruiting NCT04440085 Phase 4 Midodrine Hydrochloride;Placebo
14 A Phase IV, Multi-Center, Double-Blind, Parallel Group, Randomized, Placebo-Controlled Study to Assess the Clinical Benefit of Three Doses of Midodrine Hydrochloride (ProAmatine®) in Subjects With Neurogenic Orthostatic Hypotension Terminated NCT00046163 Phase 4 midodrine hydrochloride (ProAmatine®)
15 A Multi-center, Open-label Study to Assess the Long-term Safety of Droxidopa in Subjects With Primary Autonomic Failure, Dopamine Beta Hydroxylase Deficiency or Non-Diabetic Neuropathy and Symptomatic Neurogenic Orthostatic Hypotension Completed NCT01132326 Phase 3 Droxidopa
16 Phase III, Multi-Center, Study to Assess the Clinical Effect of Droxidopa in Subjects With Primary Autonomic Failure, Dopamine Beta Hydroxylase Deficiency or Non-Diabetic Neuropathy and Symptomatic NOH Completed NCT00782340 Phase 3 Placebo;Droxidopa
17 An Open-label Study, to Assess the Long-term Safety and Clinical Benefit of Droxidopa in Subjects With PAF, Dopamine Beta Hydroxylase Deficiency or Non-diabetic Neuropathy and Symptomatic Neurogenic Orthostatic Hypotension Completed NCT00738062 Phase 3 Droxidopa;Placebo
18 Phase III, Multi-Center, Study to Assess the Clinical Effect of Droxidopa in Subjects With Primary Autonomic Failure, Dopamine Beta Hydroxylase Deficiency or Non-Diabetic Neuropathy and Symptomatic NOH Completed NCT00633880 Phase 3 Placebo;Droxidopa
19 A Multi-center, Double-blind, Randomized, Parallel-Group, Placebo-Controlled Study to Assess the Clinical Effect of Droxidopa in the Treatment of Symptomatic Neurogenic Orthostatic Hypotension in Patients With Parkinson's Disease Completed NCT01176240 Phase 3 Droxidopa
20 Evaluate the Long-term (3 Months) Efficacy of L-threo DOPS (DroxiDopa) on Orthostatic Hypotension Symptoms and Other Non-motor Symptoms in Patients With Multiple System Atrophy (MSA). Comparative Study Versus Placebo Completed NCT02071459 Phase 2, Phase 3 L-Threo DOPS;placebo
21 Efficacy of Midodrine for the Prevention of Orthostatic Hypotension During Early Mobilization After Fast-track Hip Arthroplasty - a Randomized, Placebo Controlled Trial. Completed NCT01707953 Phase 3 Midodrine;Placebo
22 A Phase 3, 4-week, Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel-group Study of TD-9855 in Treating Symptomatic Neurogenic Orthostatic Hypotension in Subjects With Primary Autonomic Failure Recruiting NCT03750552 Phase 3 ampreloxetine;Placebo
23 A Phase 3, 22-week, Multi-center, Randomized Withdrawal Study of TD-9855 in Treating Symptomatic Neurogenic Orthostatic Hypotension in Subjects With Primary Autonomic Failure Recruiting NCT03829657 Phase 3 ampreloxetine;Placebo
24 A Phase 3, 182-week, Open-Label, Extension Study to Investigate the Safety and Tolerability of TD-9855 in Treating Symptomatic Neurogenic Orthostatic Hypotension (Symptomatic nOH) in Subjects With Primary Autonomic Failure Recruiting NCT04095793 Phase 3 ampreloxetine
25 Treatment of Post-SCI Hypotension: A Randomized Controlled Study of Usual Care Versus Anti Hypotension Therapy Recruiting NCT02919917 Phase 2, Phase 3 Midodrine Hydrochloride;Midodrine Hydrochloride
26 Treatment of Hypotensive Patients Having a Unique Pattern of Autonomic Symptoms Enrolling by invitation NCT00581477 Phase 3 droxidopa;placebo;alpha-methyldopa;carbidopa;metyrosine;levodopa;atomoxetine;metoclopramide
27 A Clinical Study of Patients With Symptomatic Neurogenic Orthostatic Hypotension to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
28 A Double-blind, Randomized and Placebo-controlled Study to Evaluate the Efficacy and Safety of L-threo-3,4-dihydroxyphenylserine (Droxidopa) on Orthostatic Hypotension Treatment in Hemodialysis Patients Terminated NCT01612078 Phase 3 Droxidopa;Placebo
29 A Phase II, Randomised, Placebo-Controlled, Double-Blind, Replicated Crossover, Pilot Study on the Effect of Fipamezole on Neurogenic Orthostatic Hypotension in Patients With Multiple System Atrophy or Parkinson's Disease Unknown status NCT00758849 Phase 2 Placebo;Fipamezole
30 Transcranial Electrical Stimulation for Management of Orthostatic Instability in Acute Cervical Spinal Cord Injury Completed NCT01874782 Phase 2
31 A Dose Response Trial Using 5 and 10 mg. of Midodrine Hydrochloride to Treat Orthostatic Hypotension in Persons With SCI Completed NCT00426842 Phase 2 Midodrine Hydrochloride
32 Phase II Study of Midodrine for Neurogenic Orthostatic Hypotension Completed NCT00004268 Phase 2 midodrine
33 Acetylcholinesterase Inhibition: A Novel Approach in the Treatment of Orthostatic Hypotension in Spinal Cord Injury Completed NCT02307526 Phase 2 Pyridostigmine Bromide
34 A Phase 2 Study to Assess the Effect of TD-9855 in Subjects With Neurogenic Orthostatic Hypotension Completed NCT02705755 Phase 2 TD-9855;Placebo
35 Abdominal Binders for the Treatment of Orthostatic Hypotension in Parkinson's Disease: an Investigator-initiated Randomized, Placebo-controlled, Cross-over Study Completed NCT01971008 Phase 2
36 Safety and Efficacy of Intravenous Norepinephrine for Orthostatic Hypotension Completed NCT01285908 Phase 1, Phase 2 Intravenous Norepinephrine Infusion
37 Safety and Efficacy of L-NAME and Midodrine to Increase MAP in Persons With Tetraplegia Completed NCT00835224 Phase 2 L-NAME;Midodrine;Placebo
38 Effect of L-Dihydroxyphenylserine (L-DOPS) on Falls in Patients With Neurogenic Orthostatic Hypotension (NOH) Recruiting NCT03567447 Phase 2 Droxidopa
39 Randomized, Double-blind, Sham-controlled to Evaluate the Effects of an Automated Abdominal Binder in Improving Orthostatic Tolerance in Autonomic Failure Patients With Disabling Orthostatic Hypotension Recruiting NCT03482297 Phase 1, Phase 2 Placebo;Midodrine
40 Treatment Trial of Droxidopa and Pyridostigmine to Improve Orthostatic Hypotension Without Aggravating Supine Hypertension Recruiting NCT01370512 Phase 2 Droxidopa;Pyridostigmine Bromide
41 Phase 2 Norepinephrine Transporter Blockade, Autonomic Failure IND117394 12/28/12 Active, not recruiting NCT02784535 Phase 2 Atomoxetine;Placebo
42 The Exercise Response to Pharmacologic Cholinergic Stimulation in Myalgic Encephalomyelitis / Chronic Fatigue Syndrome Enrolling by invitation NCT03674541 Phase 2 Pyridostigmine Bromide;Placebo
43 An Open-Label Study To Assess The Clinical Benefit Of Droxidopa In Subjects With Chronic Fatigue Syndrome Terminated NCT00977171 Phase 2 Droxidopa
44 L-Dihydroxyphenylserine (L-DOPS) for Norepinephrine Deficiency: Interactions With Carbidopa and Entacapone Terminated NCT00547911 Phase 1, Phase 2 Droxidopa;Carbidopa;Entacapone
45 Assessment of Hand-grip in the Prevention of Postural Orthostatic Hypotension Unknown status NCT01521221 Phase 1
46 Efficacy of Therapeutic Interventions for Orthostatic Hypotension in Parkinson's Disease and Multiple System Atrophy Completed NCT00103597 Phase 1 Fludrocortisone;Domperidone
47 Evaluation and Treatment of Autonomic Failure. Completed NCT00223691 Phase 1 Atomoxetine;Acarbose;Pyridostigmine Bromide;Yohimbine;Midodrine HCl;placebo;Modafinil;Octreotide;Diphenhydramine Hydrochloride;Ranitidine HCL;Tranylcypromine;Ergotamine/ Caffeine;Celecoxib;Pseudoephedrine;Methylphenidate;Indomethacin;Ibuprofen;Oxymetazoline 0.05% nasal solution;Acetazolamide;Rivastigmine tartrate;Carbidopa/levodopa
48 A Study to Evaluate the Potential Incidence of Orthostatic Hypotension in Elderly Hypertensive Patients Following Administration of a Combination of COREG CR and Lisinopril Completed NCT00508365 Phase 1 Carvedilol CR capsules;Placebo;Lisinopril
49 A Randomized, Open-Label, Three-Period, Three-Sequence, Single-Dose Crossover and Separate Three-Daily-Dose Treatment Period Study Comparing the Pharmacokinetic Profiles Following Oral Dosing of 300 mg of Droxidopa in the Fed Versus Fasted State, the Bioequivalence of Three 100 mg Capsules of Droxidopa Versus a Single 300 mg Capsule of Droxidopa, and 300 mg of Droxidopa Given Three Times at Four Hour Intervals in Healthy, Elderly Subjects Completed NCT01149629 Phase 1 Droxidopa;Droxidopa;Droxidopa
50 The Effects of Midodrine and Droxidopa on Splanchnic Capacitance in Autonomic Failure Aim 2 of RDCRN (Rare Diseases Clinical Research Network) Project 2 Recruiting NCT02897063 Phase 1 Droxidopa;Midodrine;Placebo

Search NIH Clinical Center for Orthostatic Hypotension 1

Cochrane evidence based reviews: hypotension, orthostatic

Genetic Tests for Orthostatic Hypotension 1

Genetic tests related to Orthostatic Hypotension 1:

# Genetic test Affiliating Genes
1 Orthostatic Hypotension 1 29 DBH

Anatomical Context for Orthostatic Hypotension 1

MalaCards organs/tissues related to Orthostatic Hypotension 1:

40
Eye, Spinal Cord

Publications for Orthostatic Hypotension 1

Articles related to Orthostatic Hypotension 1:

(show all 28)
# Title Authors PMID Year
1
Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. 6 57
11857564 2002
2
Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency. 6
27778639 2017
3
Neurocognitive function in dopamine-β-hydroxylase deficiency. 6
21471955 2011
4
Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase. 6
21209083 2011
5
DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndrome. 6
15060114 2004
6
A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T --> C in African- and European-Americans. 6
14598346 2003
7
Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation. 57
1677640 1991
8
Linkage analysis of the human dopamine beta-hydroxylase gene. 57
2071155 1991
9
Clinical, autonomic and therapeutic observations in two siblings with postural hypotension and sympathetic failure due to an inability to synthesize noradrenaline from dopamine because of a deficiency of dopamine beta hydroxylase. 57
2217667 1990
10
Dopamine-beta-hydroxylase deficiency in humans. 57
2300263 1990
11
Linkage of a gene regulating dopamine-beta-hydroxylase activity and the ABO blood group locus. 57
3422127 1988
12
Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency. 57
2890806 1987
13
Segregation and linkage analyses of dopamine-beta-hydroxylase activity in a six-generation pedigree. 57
3631133 1987
14
Isolated failure of autonomic noradrenergic neurotransmission. Evidence for impaired beta-hydroxylation of dopamine. 57
3010116 1986
15
Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT), and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity. 57
6951409 1982
16
Segregation and linkage analyses of dopamine-beta-hydroxylase activity. 57
489028 1979
17
Inheritance of low immunoreactive human plasma dopamine-beta-hydroxylase. Radioimmunoassay studies. 57
908751 1977
18
Human serum dopamine beta-hydroxylase: correlation of enzymatic activity with immunoreactive protein in genetically defined samples. 57
57719 1976
19
Inheritance of very low serum dopamine-beta-hydroxylase activity. 57
1163533 1975
20
Serum dopamine-beta-hydroxylase activity in parents and children. 57
1120928 1975
21
Plasma dopamine beta-hydroxylase: a possible aid in the study and evaluation of hypertension. 57
4809562 1974
22
Genetic control of plasma dopamine-beta-hydroxylase. 57
4796226 1973
23
Self-reported post-exertional fatigue in Gulf War veterans: roles of autonomic testing. 61
24431987 2014
24
Diagnosis of neurally mediated syncope at initial evaluation and with tilt table testing compared with that revealed by prolonged ECG monitoring. An analysis from the Third International Study on Syncope of Uncertain Etiology (ISSUE-3). 61
24153416 2013
25
Sexuality and management of benign prostatic hyperplasia with alfuzosin: SAMBA Thailand. 61
20233288 2010
26
[The clinical efficacy and safety of naftopidil 75 mg on benign prostatic hyperplasia patients with moderate or severe urinary disturbance]. 61
19462821 2009
27
Tilt test in elderly patients with syncope of unknown etiology: experience with pharmacological stimulation with nitroglycerin. 61
16240681 2005
28
[Analysis of causes for falls in people with Parkinson's disease]. 61
12053616 2002

Variations for Orthostatic Hypotension 1

ClinVar genetic disease variations for Orthostatic Hypotension 1:

6 (show top 50) (show all 167)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DBH NM_000787.4(DBH):c.617del (p.Glu206fs) Deletion Pathogenic 217762 rs863225244 GRCh37: 9:136507459-136507459
GRCh38: 9:133642337-133642337
2 DBH NM_000787.4(DBH):c.468dup (p.Lys157fs) Duplication Pathogenic 846731 GRCh37: 9:136505092-136505093
GRCh38: 9:133639970-133639971
3 DBH NM_000787.4(DBH):c.1804C>T (p.Arg602Ter) SNV Pathogenic 449010 rs775827929 GRCh37: 9:136523519-136523519
GRCh38: 9:133658397-133658397
4 DBH NM_000787.4(DBH):c.339+2T>C SNV Pathogenic 1750 rs74853476 GRCh37: 9:136501834-136501834
GRCh38: 9:133636712-133636712
5 DBH NM_000787.4(DBH):c.342C>A (p.Asp114Glu) SNV Pathogenic 1751 rs77576840 GRCh37: 9:136504970-136504970
GRCh38: 9:133639848-133639848
6 DBH NM_000787.4(DBH):c.301G>A (p.Val101Met) SNV Pathogenic 1752 rs267606760 GRCh37: 9:136501794-136501794
GRCh38: 9:133636672-133636672
7 DBH NM_000787.4(DBH):c.1033G>A (p.Asp345Asn) SNV Pathogenic 217764 rs267606761 GRCh37: 9:136512976-136512976
GRCh38: 9:133647854-133647854
8 DBH NM_000787.4(DBH):c.301G>A (p.Val101Met) SNV Pathogenic 217761 rs267606760 GRCh37: 9:136501794-136501794
GRCh38: 9:133636672-133636672
9 DBH NM_000787.4(DBH):c.1085C>A (p.Ala362Glu) SNV Pathogenic 217765 rs75215331 GRCh37: 9:136513028-136513028
GRCh38: 9:133647906-133647906
10 DBH NM_000787.4(DBH):c.806G>T (p.Cys269Phe) SNV Pathogenic 217763 rs863225245 GRCh37: 9:136508596-136508596
GRCh38: 9:133643474-133643474
11 DBH-AS1 , DBH NM_000787.4(DBH):c.1667A>G (p.Tyr556Cys) SNV Pathogenic 217766 rs863225246 GRCh37: 9:136522296-136522296
GRCh38: 9:133657174-133657174
12 DBH NM_000787.4(DBH):c.715A>T (p.Lys239Ter) SNV Pathogenic 1028376 GRCh37: 9:136507557-136507557
GRCh38: 9:133642435-133642435
13 DBH NM_000787.4(DBH):c.291C>T (p.Asn97=) SNV Conflicting interpretations of pathogenicity 750427 rs75734048 GRCh37: 9:136501784-136501784
GRCh38: 9:133636662-133636662
14 DBH NM_000787.4(DBH):c.1215C>T (p.His405=) SNV Conflicting interpretations of pathogenicity 784656 rs144219953 GRCh37: 9:136516779-136516779
GRCh38: 9:133651657-133651657
15 DBH NM_000787.4(DBH):c.354C>T (p.Asp118=) SNV Conflicting interpretations of pathogenicity 714636 rs199898782 GRCh37: 9:136504982-136504982
GRCh38: 9:133639860-133639860
16 DBH NM_000787.4(DBH):c.807C>T (p.Cys269=) SNV Conflicting interpretations of pathogenicity 365647 rs141816448 GRCh37: 9:136508597-136508597
GRCh38: 9:133643475-133643475
17 DBH NM_000787.4(DBH):c.1094T>C (p.Met365Thr) SNV Conflicting interpretations of pathogenicity 365657 rs200103371 GRCh37: 9:136513037-136513037
GRCh38: 9:133647915-133647915
18 DBH NM_000787.4(DBH):c.1025-6T>A SNV Conflicting interpretations of pathogenicity 365655 rs199926239 GRCh37: 9:136512962-136512962
GRCh38: 9:133647840-133647840
19 DBH-AS1 , DBH NM_000787.4(DBH):c.1444G>A (p.Gly482Arg) SNV Conflicting interpretations of pathogenicity 529773 rs41316996 GRCh37: 9:136521654-136521654
GRCh38: 9:133656532-133656532
20 DBH NM_000787.4(DBH):c.1772A>T (p.Glu591Val) SNV Conflicting interpretations of pathogenicity 859268 GRCh37: 9:136523487-136523487
GRCh38: 9:133658365-133658365
21 DBH NM_000787.4(DBH):c.1198C>T (p.Pro400Ser) SNV Uncertain significance 445788 rs200798319 GRCh37: 9:136516762-136516762
GRCh38: 9:133651640-133651640
22 DBH NM_000787.4(DBH):c.983T>G (p.Leu328Arg) SNV Uncertain significance 912320 GRCh37: 9:136509401-136509401
GRCh38: 9:133644279-133644279
23 DBH NM_000787.4(DBH):c.1001A>T (p.Tyr334Phe) SNV Uncertain significance 912321 GRCh37: 9:136509419-136509419
GRCh38: 9:133644297-133644297
24 DBH-AS1 , DBH NM_000787.4(DBH):c.1643A>G (p.Asn548Ser) SNV Uncertain significance 912367 GRCh37: 9:136522272-136522272
GRCh38: 9:133657150-133657150
25 DBH-AS1 , DBH NM_000787.4(DBH):c.1688T>C (p.Met563Thr) SNV Uncertain significance 912368 GRCh37: 9:136522317-136522317
GRCh38: 9:133657195-133657195
26 DBH-AS1 , DBH NM_000787.4(DBH):c.1722+13G>T SNV Uncertain significance 912369 GRCh37: 9:136522364-136522364
GRCh38: 9:133657242-133657242
27 DBH NM_000787.4(DBH):c.*320G>A SNV Uncertain significance 912422 GRCh37: 9:136523889-136523889
GRCh38: 9:133658767-133658767
28 DBH NM_000787.4(DBH):c.*393C>T SNV Uncertain significance 912423 GRCh37: 9:136523962-136523962
GRCh38: 9:133658840-133658840
29 DBH NM_000787.4(DBH):c.*315G>A SNV Uncertain significance 365684 rs886063662 GRCh37: 9:136523884-136523884
GRCh38: 9:133658762-133658762
30 DBH NM_000787.4(DBH):c.486+15C>T SNV Uncertain significance 365638 rs749887039 GRCh37: 9:136505129-136505129
GRCh38: 9:133640007-133640007
31 DBH NM_000787.4(DBH):c.*846G>A SNV Uncertain significance 365695 rs886063668 GRCh37: 9:136524415-136524415
GRCh38: 9:133659293-133659293
32 DBH NM_000787.4(DBH):c.*222C>T SNV Uncertain significance 365681 rs561913284 GRCh37: 9:136523791-136523791
GRCh38: 9:133658669-133658669
33 DBH NM_000787.4(DBH):c.*415C>T SNV Uncertain significance 365690 rs533447101 GRCh37: 9:136523984-136523984
GRCh38: 9:133658862-133658862
34 DBH NM_000787.4(DBH):c.1825G>A (p.Val609Ile) SNV Uncertain significance 365675 rs141570582 GRCh37: 9:136523540-136523540
GRCh38: 9:133658418-133658418
35 DBH NM_000787.4(DBH):c.*459A>G SNV Uncertain significance 365692 rs886063666 GRCh37: 9:136524028-136524028
GRCh38: 9:133658906-133658906
36 DBH NM_000787.4(DBH):c.*213A>C SNV Uncertain significance 365680 rs578112069 GRCh37: 9:136523782-136523782
GRCh38: 9:133658660-133658660
37 DBH NM_000787.4(DBH):c.*283A>C SNV Uncertain significance 365683 rs886063661 GRCh37: 9:136523852-136523852
GRCh38: 9:133658730-133658730
38 DBH NM_000787.4(DBH):c.*383C>T SNV Uncertain significance 365686 rs886063663 GRCh37: 9:136523952-136523952
GRCh38: 9:133658830-133658830
39 DBH NM_000787.4(DBH):c.*401C>T SNV Uncertain significance 365689 rs886063665 GRCh37: 9:136523970-136523970
GRCh38: 9:133658848-133658848
40 DBH-AS1 , DBH NM_000787.4(DBH):c.1493C>T (p.Thr498Met) SNV Uncertain significance 365663 rs78512658 GRCh37: 9:136521703-136521703
GRCh38: 9:133656581-133656581
41 DBH NM_000787.4(DBH):c.776C>T (p.Ala259Val) SNV Uncertain significance 365646 rs201600007 GRCh37: 9:136508566-136508566
GRCh38: 9:133643444-133643444
42 DBH NM_000787.4(DBH):c.852C>T (p.Asp284=) SNV Uncertain significance 365649 rs886063658 GRCh37: 9:136508642-136508642
GRCh38: 9:133643520-133643520
43 DBH-AS1 , DBH NM_000787.4(DBH):c.1557C>T (p.Ile519=) SNV Uncertain significance 365666 rs764026303 GRCh37: 9:136521767-136521767
GRCh38: 9:133656645-133656645
44 DBH NM_000787.4(DBH):c.1840G>A (p.Gly614Arg) SNV Uncertain significance 365677 rs76316834 GRCh37: 9:136523555-136523555
GRCh38: 9:133658433-133658433
45 DBH NM_000787.4(DBH):c.686C>A (p.Thr229Lys) SNV Uncertain significance 365642 rs200628504 GRCh37: 9:136507528-136507528
GRCh38: 9:133642406-133642406
46 DBH-AS1 , DBH NM_000787.4(DBH):c.1451T>C (p.Leu484Pro) SNV Uncertain significance 365662 rs769107895 GRCh37: 9:136521661-136521661
GRCh38: 9:133656539-133656539
47 DBH-AS1 , DBH NM_000787.4(DBH):c.1556T>C (p.Ile519Thr) SNV Uncertain significance 365665 rs537856898 GRCh37: 9:136521766-136521766
GRCh38: 9:133656644-133656644
48 DBH NM_000787.4(DBH):c.1788C>T (p.Cys596=) SNV Uncertain significance 365674 rs61729385 GRCh37: 9:136523503-136523503
GRCh38: 9:133658381-133658381
49 DBH NM_000787.4(DBH):c.259T>C (p.Phe87Leu) SNV Uncertain significance 365633 rs761327487 GRCh37: 9:136501752-136501752
GRCh38: 9:133636630-133636630
50 DBH NM_000787.4(DBH):c.*431C>T SNV Uncertain significance 365691 rs551208345 GRCh37: 9:136524000-136524000
GRCh38: 9:133658878-133658878

UniProtKB/Swiss-Prot genetic disease variations for Orthostatic Hypotension 1:

72
# Symbol AA change Variation ID SNP ID
1 DBH p.Val101Met VAR_022758 rs267606760
2 DBH p.Asp114Glu VAR_022759 rs77576840
3 DBH p.Asp345Asn VAR_022760 rs267606761

Expression for Orthostatic Hypotension 1

Search GEO for disease gene expression data for Orthostatic Hypotension 1.

Pathways for Orthostatic Hypotension 1

GO Terms for Orthostatic Hypotension 1

Sources for Orthostatic Hypotension 1

3 CDC
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