PAF
MCID: PRT058
MIFTS: 58

Pure Autonomic Failure (PAF)

Categories: Cardiovascular diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pure Autonomic Failure

MalaCards integrated aliases for Pure Autonomic Failure:

Name: Pure Autonomic Failure 20 58 54 70
Orthostatic Hypotension 20 43 53 29 17 32
Idiopathic Orthostatic Hypotension 20 58 70
Bradbury-Eggleston Syndrome 20 53 58
Postural Hypotension 43 53
Bradbury Eggleston Syndrome 20
Pure Idiopatic Dysautonomia 58
Hypotension, Orthostatic 43
Hypotension Orthostatic 54
Hypotension, Postural 43
Pure Dysautonomia 58
Paf 58

Characteristics:

Orphanet epidemiological data:

58
pure autonomic failure
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 32 I95.1
MESH via Orphanet 45 C544351 D054970
ICD10 via Orphanet 33 G90.3
UMLS via Orphanet 71 C0393911 C2931939
Orphanet 58 ORPHA441
UMLS 70 C0393911 C2931939

Summaries for Pure Autonomic Failure

MedlinePlus Genetics : 43 Orthostatic hypotension is a drop in blood pressure that occurs when moving from a laying down (supine) position to a standing (upright) position. The word "orthostasis" means to stand up, so the condition is defined as low blood pressure (hypotension) that occurs upon standing.When standing up, gravity moves blood from the upper body to the lower limbs. As a result, there is a temporary reduction in the amount of blood in the upper body for the heart to pump (cardiac output), which decreases blood pressure. Normally, the body quickly counteracts the force of gravity and maintains stable blood pressure and blood flow. In most people, this transient drop in blood pressure goes unnoticed. However, this transient orthostatic hypotension can cause lightheadedness that may result in falls and injury, particularly in older adults.The body has difficulty achieving stable blood pressure in people with orthostatic hypotension, resulting in a prolonged drop in blood pressure that occurs within minutes after moving from laying down to standing. The vast majority of people with orthostatic hypotension do not experience symptoms related to the condition; it may be detected incidentally during routine medical testing. When measuring blood pressure, orthostatic hypotension is defined as a decrease in blood pressure by at least 20mmHg systolic or 10mmHg diastolic within 3 minutes of standing.When signs and symptoms of orthostatic hypotension do occur, they are usually the result of a reduction in blood flow (hypoperfusion) to tissues, particularly the brain. Affected individuals may have fatigue, confusion, dizziness, blurred vision, or fainting episodes (syncope). Less frequently, affected individuals can experience muscle pain in the neck and shoulders (known as "coat hanger pain"), lower back pain, or weakness. During an episode of orthostatic hypotension, symptoms are often increased in severity by physical activity, warm temperatures, eating large meals, or standing for long periods of time.In people with orthostatic hypotension, hypoperfusion to other organs contributes to an increased risk of life-threatening health problems, including heart attack or heart failure, a heart rhythm abnormality called atrial fibrillation, stroke, or chronic kidney failure. Additionally, affected individuals may get injured from falls during fainting episodes.

MalaCards based summary : Pure Autonomic Failure, also known as orthostatic hypotension, is related to autonomic dysfunction and multiple system atrophy 1. An important gene associated with Pure Autonomic Failure is DBH (Dopamine Beta-Hydroxylase), and among its related pathways/superpathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Circadian entrainment. The drugs Amlodipine and Hydrochlorothiazide have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, heart and eye, and related phenotypes are orthostatic hypotension and anhidrosis

GARD : 20 Pure autonomic failure (PAF) is a neurodegenerative disease of the autonomic nervous system, which regulates body processes like blood pressure and breathing rate. PAF usually affects only the peripheral autonomic nervous system, which means it does not usually involve the brain and spinal cord (the central nervous system ). Symptoms begin in midlife, although they can begin earlier. The main symptom of PAF is orthostatic hypotension, a sudden drop in blood pressure upon standing. This can cause dizziness, lightheadedness, blurry vision, and weakness. Other symptoms can include fatigue, bladder problems, constipation, abnormal sweating, and sleep disorders. The symptoms of PAF tend to get worse over time, and sometimes, PAF can lead to other conditions such as Parkinson's disease, dementia with Lewy bodies, or multiple system atrophy. The cause of PAF is not known. The symptoms are caused by abnormal accumulations of protein, called Lewy bodies, in the cells of autonomic nerves. The Lewy bodies restrict the production and release of norepinephrine from nerve cells, which in turn causes hypotension. Diagnosis of PAF is based on the symptoms, clinical examination, and a thorough neurological examination. Testing may involve tilt table testing, 24-hour blood pressure monitoring, hyperventilation testing, and a norepinephrine blood test. Treatment is focused on managing the symptoms. Options include both lifestyle changes and medications.

NINDS : 53 Orthostatic hypotension is a sudden fall in blood pressure that occurs when a person assumes a standing position. It is due to a lesion of the baroreflex loop, which senses a change in blood pressure and adjusts heart rate and activates sympathetic nerve system fibers to cause the blood vessels to narrow and correct blood pressure. It may also be caused by hypovolemia (a decreased amount of blood in the body), resulting from the excessive use of diuretics, vasodilators, or other types of drugs, dehydration, or prolonged bed rest. The disorder may be associated with Addison's disease, diabetes, and certain neurological disorders including Multiple System Atrophy with Orthostatic Hypotension (formerly known as Shy-Drager syndrome), autonomic system neuropathies, and other dysautonomias. Symptoms, which generally occur after sudden standing, include dizziness, lightheadedness, blurred vision, and syncope (temporary loss of consciousness).

Wikipedia : 73 Pure autonomic failure (PAF) is a form of dysautonomia that first occurs in middle age or later in life;... more...

Related Diseases for Pure Autonomic Failure

Diseases related to Pure Autonomic Failure via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 668)
# Related Disease Score Top Affiliating Genes
1 autonomic dysfunction 32.3 SNCA DBH
2 multiple system atrophy 1 32.0 TH SNCA MAOB DBH
3 dementia, lewy body 31.4 TH SNCA MAOB ACHE
4 diabetic autonomic neuropathy 31.0 REN EPO ACE
5 syncope 30.8 NPPA DBH
6 diabetic neuropathy 30.8 REN EPO ACE
7 hypertensive retinopathy 30.3 REN ACE
8 pulmonary edema 30.2 REN NPPA EPO ACE
9 movement disease 30.2 TH SNCA MAOB DDC
10 congestive heart failure 30.2 REN PDE5A NPPA EPO ACE
11 sleep apnea 30.1 REN EPO ACE
12 mitral valve stenosis 30.1 REN NPPA ACE
13 hypoaldosteronism 30.1 REN NPPA ACE
14 mitral valve insufficiency 30.1 REN NPPA ACE
15 dopamine beta-hydroxylase deficiency 30.1 TH SNCA DDC DBH
16 pulmonary hypertension 30.1 REN PDE5A NPPA ACE
17 heart valve disease 30.0 REN NPPA ACE
18 aortic valve disease 2 30.0 REN NPPA ACE
19 sleep disorder 30.0 TH SNCA REN ACE
20 orthostatic intolerance 30.0 REN EPO ACHE ACE
21 nervous system disease 30.0 TH SNCA ACHE ACE
22 renal hypertension 29.9 REN EPO DBH ACE
23 autonomic nervous system disease 29.9 TTR TH REN DBH ACE
24 end stage renal disease 29.8 TTR REN EPO ACE
25 kidney disease 29.7 TTR REN NPPA EPO ACE
26 uremia 29.7 REN EPO ACE
27 renovascular hypertension 29.7 REN NPPA ACE
28 polycythemia 29.7 REN EPO ACE
29 post-traumatic stress disorder 29.7 MAOB MAOA DBH
30 liver cirrhosis 29.7 TTR REN NPPA ACE
31 cardiovascular system disease 29.6 REN PDE5A NPPA ACE
32 polyneuropathy 29.6 TTR EPO ACHE ACE
33 supranuclear palsy, progressive, 1 29.5 TH SNCA MAOB ACHE
34 neurotic disorder 29.5 MAOA ACHE
35 alcohol dependence 29.5 TH SNCA MAOB MAOA DBH ACE
36 cerebrovascular disease 29.3 TTR REN NPPA GNB3 ACHE ACE
37 alzheimer disease 29.3 TTR SNCA REN MAOB ACHE ACE
38 attention deficit-hyperactivity disorder 29.3 TH SNCA MAOB MAOA DDC DBH
39 migraine with or without aura 1 29.2 REN PDE5A MAOB MAOA DBH ACE
40 peripheral nervous system disease 29.2 TTR TH SNCA EPO ACHE ACE
41 dementia 29.2 TTR TH SNCA MAOB ACHE
42 chronic kidney disease 29.2 TTR REN NPPA GNB3 EPO ACE
43 parkinson disease, late-onset 29.2 TTR TH SNCA MAOB MAOA DDC
44 respiratory failure 29.1 TTR REN NPPA EPO ACHE ACE
45 lipoprotein quantitative trait locus 29.1 REN PDE5A NPPA GNB3 ACE
46 psychotic disorder 29.1 TH MAOB MAOA DBH ACHE
47 type 2 diabetes mellitus 28.9 TTR REN PDE5A GNB3 EPO ACHE
48 myocardial infarction 28.8 REN PDE5A NPPA GNB3 EPO ACE
49 bipolar disorder 28.7 TH MAOA GNB3 DDC DBH
50 hypertension, essential 28.7 TH REN PDE5A NPPA NEDD4L GNB3

Graphical network of the top 20 diseases related to Pure Autonomic Failure:



Diseases related to Pure Autonomic Failure

Symptoms & Phenotypes for Pure Autonomic Failure

Human phenotypes related to Pure Autonomic Failure:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 orthostatic hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0001278
2 anhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000970
3 abnormality of circulating catecholamine level 58 31 hallmark (90%) Very frequent (99-80%) HP:0012099
4 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
5 syncope 58 31 frequent (33%) Frequent (79-30%) HP:0001279
6 dysuria 58 31 frequent (33%) Frequent (79-30%) HP:0100518
7 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
8 impotence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000802
9 dysautonomia 58 Very frequent (99-80%)
10 constitutional symptom 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Pure Autonomic Failure:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 ACE ACHE DBH DDC EPO MAOA
2 behavior/neurological MP:0005386 10.07 ACE ACHE DBH DDC MAOA MAOB
3 homeostasis/metabolism MP:0005376 10.07 ACE ACHE DBH DDC EPO MAOA
4 nervous system MP:0003631 9.93 ACE ACHE DBH DDC GNB3 MAOA
5 renal/urinary system MP:0005367 9.61 ACE DDC MAOB NEDD4L NPPA REN
6 vision/eye MP:0005391 9.23 ACE ACHE DBH DDC GNB3 NEDD4L

Drugs & Therapeutics for Pure Autonomic Failure

Drugs for Pure Autonomic Failure (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 254)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 4 88150-42-9 2162
2
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
3
Morphine Approved, Investigational Phase 4 57-27-2 5288826
4
Acetaminophen Approved Phase 4 103-90-2 1983
5
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
6
Hydralazine Approved Phase 4 86-54-4 3637
7
Norepinephrine Approved Phase 4 51-41-2 439260
8
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
9
Diazoxide Approved Phase 4 364-98-7 3019
10
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
11 Analgesics, Non-Narcotic Phase 4
12 calcium channel blockers Phase 4
13 Calcium, Dietary Phase 4
14 Antipyretics Phase 4
15 Analgesics, Opioid Phase 4
16 Cola Phase 4
17 Antihypertensive Agents Phase 4
18 Angiotensin-Converting Enzyme Inhibitors Phase 4
19 Adrenergic beta-Antagonists Phase 4
20 Angiotensin Receptor Antagonists Phase 4
21 Mineralocorticoids Phase 4
22 Mineralocorticoid Receptor Antagonists Phase 4
23 LCZ 696 Phase 4
24 insulin Phase 4
25 Insulin, Globin Zinc Phase 4
26 Vasodilator Agents Phase 4
27 Narcotics Phase 4
28 Narcotic Antagonists Phase 4
29
Calcium Nutraceutical Phase 4 7440-70-2 271
30
tannic acid Approved Phase 2, Phase 3 1401-55-4
31
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
32
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
33
Carbidopa Approved Phase 3 28860-95-9 34359
34
Levodopa Approved Phase 3 59-92-7 6047
35
Droxidopa Approved, Investigational Phase 3 23651-95-8 443940
36
Methyldopa Approved Phase 3 555-30-6 38853
37
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
38
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
39 Atomoxetine Hydrochloride Phase 3
40 Dopamine Agents Phase 3
41 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
42 Antiparkinson Agents Phase 3
43 Dopamine Antagonists Phase 3
44 Sympatholytics Phase 3
45 alpha-Methyltyrosine Phase 3
46 diuretics Phase 3
47
Isradipine Approved, Investigational Phase 2 75695-93-1 3784
48
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
49
Racepinephrine Approved Phase 2 329-65-7 838
50 Neuroprotective Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 153)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Midodrine and Atomoxetine Treatment in Patients With Neurogenic Orthostatic Hypotension : A Prospective Randomized Study Completed NCT03350659 Phase 4 Midodrine;Atomoxetine
2 Dawn Simulation as a Passive Countermeasure to Postural Hypotension in Healthy Older Adults Completed NCT02632318 Phase 4
3 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
4 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
5 Treatment and Prognosis of Neurogenic Orthostatic Hypotension : A Prospective Randomized Study Completed NCT02308124 Phase 4 Midodrine;Pyridostigmine Bromide;Midodrine + pyridostigmine
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 The COMPAriSon of Systolic Blood Pressure Variability and Central Blood Pressure of Calcium Channel Blocker (Amlodipine) in Comparison With Angiotensin Receptor Blocker (Losartan) in Patients With Essential Hypertension Completed NCT01964079 Phase 4 Amlodipine;Losartan
9 Improving Perioperative Pain Management for Laparoscopic Surgery Due to Colon Cancer Using the Ultrasound-guided Transmuscular Quadratus Lumborum Block. A Double Blind, Randomized, Placebo Controlled Trial. Completed NCT03570541 Phase 4 Ropivacaine;Acetaminophen;Morphine;Saline
10 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
11 Evaluation of Efficacy and Tolerance of Fludrocortisone (Flucortac) in the Treatment of Orthostatic Neurogenic Hypotension Recruiting NCT04128137 Phase 4 Fludrocortisone
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 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
14 Dose Response to the Norepinephrine Precursor Droxidopa in Hypotensive Individuals With Spinal Cord Injury Recruiting NCT03602014 Phase 4 Northera
15 The Prognostic Impact of Using High-dose Hydralazine in Severe Systolic Heart Failure With Hemodynamically Significant Mitral Regurgitation Recruiting NCT04217135 Phase 4 evidence-based medications vs. high-dose hydralazine + evidence-based medications
16 RANDOMIZED CASE-CONTROLLED TRIAL ASSESSING MIDODRINE (GUTRON®) IN POSTOPERATIVE VASOPLEGIC PATIENTS Not yet recruiting NCT04440085 Phase 4 Midodrine Hydrochloride;Placebo
17 Novel Approach for the Prevention of Hypoglycemia Associated Autonomic Failure (HAAF) Suspended NCT03608163 Phase 4 Naloxone;Diazoxide;Placebo (for Naloxone);Placebo (for Diazoxide)
18 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®)
19 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
20 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
21 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
22 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
23 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
24 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
25 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
26 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
27 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
28 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
29 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
30 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
31 A Clinical Study of Patients With Symptomatic Neurogenic Orthostatic Hypotension to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
32 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
33 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
34 Transcranial Electrical Stimulation for Management of Orthostatic Instability in Acute Cervical Spinal Cord Injury Completed NCT01874782 Phase 2
35 Phase II Study of Midodrine for Neurogenic Orthostatic Hypotension Completed NCT00004268 Phase 2 midodrine
36 A Phase 2 Study to Assess the Effect of TD-9855 in Subjects With Neurogenic Orthostatic Hypotension Completed NCT02705755 Phase 2 TD-9855;Placebo
37 Acetylcholinesterase Inhibition: A Novel Approach in the Treatment of Orthostatic Hypotension in Spinal Cord Injury Completed NCT02307526 Phase 2 Pyridostigmine Bromide
38 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
39 Safety and Efficacy of L-NAME and Midodrine to Increase MAP in Persons With Tetraplegia Completed NCT00835224 Phase 2 L-NAME;Midodrine;Placebo
40 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
41 Safety and Efficacy of Intravenous Norepinephrine for Orthostatic Hypotension Completed NCT01285908 Phase 1, Phase 2 Intravenous Norepinephrine Infusion
42 Phase II Safety and Tolerability of Isradipine (A Potential Neuroprotective Agent) in Patients With Parkinson's Disease- Stage II Completed NCT00753636 Phase 2 Dynacirc CR (Isradipine)
43 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
44 Treatment Trial of Droxidopa and Pyridostigmine to Improve Orthostatic Hypotension Without Aggravating Supine Hypertension Recruiting NCT01370512 Phase 2 Droxidopa;Pyridostigmine Bromide
45 Effect of L-Dihydroxyphenylserine (L-DOPS) on Falls in Patients With Neurogenic Orthostatic Hypotension (NOH) Recruiting NCT03567447 Phase 2 Droxidopa
46 Phase 2 Norepinephrine Transporter Blockade, Autonomic Failure Recruiting NCT02796209 Phase 2 Atomexetine;Placebo
47 Phase 2 Norepinephrine Transporter Blockade, Autonomic Failure IND117394 12/28/12 Active, not recruiting NCT02784535 Phase 2 Atomoxetine;Placebo
48 Mechanisms of Hypoglycemia Associated Autonomic Failure Active, not recruiting NCT00678145 Phase 2 naloxone;Morphine sulfate;Epinephrine
49 The Exercise Response to Pharmacologic Cholinergic Stimulation in Myalgic Encephalomyelitis / Chronic Fatigue Syndrome Enrolling by invitation NCT03674541 Phase 2 Pyridostigmine Bromide;Placebo
50 An Open-Label Study To Assess The Clinical Benefit Of Droxidopa In Subjects With Chronic Fatigue Syndrome Terminated NCT00977171 Phase 2 Droxidopa

Search NIH Clinical Center for Pure Autonomic Failure

Genetic Tests for Pure Autonomic Failure

Genetic tests related to Pure Autonomic Failure:

# Genetic test Affiliating Genes
1 Orthostatic Hypotension 29

Anatomical Context for Pure Autonomic Failure

MalaCards organs/tissues related to Pure Autonomic Failure:

40
Spinal Cord, Heart, Eye, Colon, Pancreas, Skin, Endothelial

Publications for Pure Autonomic Failure

Articles related to Pure Autonomic Failure:

(show top 50) (show all 5559)
# Title Authors PMID Year
1
Pure Autonomic Failure. 20 61
27338613 2016
2
alpha-synuclein accumulation in skin nerve fibers revealed by skin biopsy in pure autonomic failure. 54 61
20157164 2010
3
Polymorphisms of angiotensin-converting enzyme (ACE) and ACE2 are not associated with orthostatic blood pressure dysregulation in hypertensive patients. 61 54
19684612 2009
4
Hyposmia in pure autonomic failure. 61 54
19433741 2009
5
Long-term treatment of anemia with recombinant human erythropoietin in familial amyloidosis TTR V30M. 61 54
18925459 2008
6
The pathophysiology and diagnosis of orthostatic hypotension. 54 61
18368300 2008
7
Erectile dysfunction and hypertension. 61 54
17151696 2007
8
Pyridostigmine in the treatment of orthostatic intolerance. 61 54
17284509 2007
9
L-Dihydroxyphenylserine (L-DOPS): a norepinephrine prodrug. 61 54
17214596 2006
10
Acetylcholinesterase inhibition in patients with orthostatic intolerance. 61 54
17016160 2006
11
Pupil abnormalities in selected autonomic neuropathies. 61 54
16966943 2006
12
Pyridostigmine in autonomic failure: can we treat postural hypotension and bladder dysfunction with one drug? 54 61
16862395 2006
13
Phosphodiesterase-5 inhibitors and their hemodynamic effects. 54 61
16884667 2006
14
Hemodynamic interaction study between the alpha1-blocker alfuzosin and the phosphodiesterase-5 inhibitor tadalafil in middle-aged healthy male subjects. 61 54
16765179 2006
15
Acetylcholinesterase inhibition and orthostatic hypotension. 61 54
16572351 2006
16
The discovery of the pressor effect of DOPS and its blunting by decarboxylase inhibitors. 54 61
17017570 2006
17
[Genetics in neurocardiogenic syncope]. 54 61
17642146 2006
18
Pharmacology and drug interaction effects of the phosphodiesterase 5 inhibitors: focus on alpha-blocker interactions. 54 61
16387566 2005
19
Association of NEDD4L ubiquitin ligase with essential hypertension. 61 54
16103266 2005
20
Alternatives to levodopa in the initial treatment of early Parkinson's disease. 54 61
16156677 2005
21
Partial angiotensin-converting enzyme inhibition during acute orthostatic stress in persons with tetraplegia. 61 54
15889697 2005
22
[From gene to disease; dopamine-beta-hydroxylase deficiency and orthostatic hypotension]. 54 61
15495941 2004
23
Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication. 61 54
14736756 2004
24
Acetylcholinesterase inhibition: a novel approach in the treatment of neurogenic orthostatic hypotension. 61 54
12933939 2003
25
Spectrum of autonomic cardiovascular neuropathy in diabetes. 54 61
12832331 2003
26
[The most common dysautonomias]. 54 61
12577222 2003
27
Successful treatment of severe orthostatic hypotension with erythropoietin. 54 61
12685148 2003
28
Autonomic neuropathies. 54 61
12352004 2002
29
Erythropoietin, anemia, and orthostatic hypotension: the evidence mounts. 54 61
12269543 2002
30
Polymorphisms of genes encoding components of the sympathetic nervous system but not the renin-angiotensin system as risk factors for orthostatic hypotension. 54 61
11910300 2002
31
Diagnosis and treatment of supine hypertension in autonomic failure patients with orthostatic hypotension. 61 54
11927799 2002
32
Accumulation of alpha-synuclein in autonomic nerves in pure autonomic failure. 61 54
11294945 2001
33
Pure autonomic failure in association with human alpha-synucleinopathy. 61 54
11109008 2000
34
Bilateral Horner's syndrome: detection and occurrence. 54 61
9886450 1999
35
Hypovolemia contributes to the pathogenesis of orthostatic hypotension in patients with diabetes mellitus. 54 61
10320117 1999
36
Autonomic neuropathies. 54 61
9848003 1998
37
[Pharmacologic approach to autonomic failure]. 54 61
9773098 1998
38
Failure of erythropoietin treatment in a case with primary autonomic failure. 54 61
9430807 1997
39
Identification of a renin threshold and its relationship to salt intake in a patient with pure autonomic failure. 61 54
9369257 1997
40
Autonomic dysfunction and anemia in neurologic disorders. 54 61
8946333 1996
41
Atrial natriuretic peptide in multiple system atrophy. 54 61
8897999 1996
42
[Familial amyloidotic polyneuropathy (FAP) type I and the therapies]. 61 54
8752420 1995
43
Orthostatic hypotension and vasodilatory peptides in bronchial carcinoma. 54 61
8567995 1995
44
Influence of orthostatic hypotension in Parkinson's disease on plasma atrial natriuretic peptide. 61 54
15374207 1995
45
ACE inhibitors. Differential use in elderly patients with hypertension. 54 61
8573991 1995
46
Effect of recombinant erythropoietin on anemia and orthostatic hypotension in primary autonomic failure. 54 61
8520216 1995
47
Recent advances in geriatric psychopharmacology. 54 61
8535049 1995
48
Genetic determinants of dopaminergic activity: potential role in blood pressure regulation. 54 61
8529034 1995
49
Postural hypotension enhanced by exercise in patients with chronic autonomic failure. 61 54
7796074 1995
50
Abnormal cardiovascular and catecholamine responses to supine exercise in human subjects with sympathetic dysfunction. 61 54
7602525 1995

Variations for Pure Autonomic Failure

Expression for Pure Autonomic Failure

Search GEO for disease gene expression data for Pure Autonomic Failure.

Pathways for Pure Autonomic Failure

Pathways related to Pure Autonomic Failure according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 TTR TH SNCA NPPA MAOB MAOA
2
Show member pathways
12.55 TH MAOB MAOA GNB3 DDC ACHE
3 12.44 TH SNCA GNB3 DDC DBH
4
Show member pathways
12.11 REN GNB3 ACHE ACE
5 12.05 TH MAOA GNB3 DDC
6
Show member pathways
11.85 TH MAOB MAOA DDC
7 11.82 MAOB MAOA GNB3 DDC
8
Show member pathways
11.72 MAOB MAOA DDC
9 11.69 TH MAOA DDC DBH
10
Show member pathways
11.68 MAOB MAOA DDC
11 11.67 TH SNCA DDC
12 11.57 REN NPPA ACE
13
Show member pathways
11.46 TH MAOB MAOA DDC DBH
14
Show member pathways
11.3 TH DDC DBH
15
Show member pathways
11.26 TH MAOA DBH ACHE
16 11.18 TH SNCA MAOB
17
Show member pathways
11.03 MAOA ACHE
18
Show member pathways
10.92 TH MAOB MAOA DBH
19
Show member pathways
10.77 MAOB MAOA
20
Show member pathways
10.71 MAOB MAOA
21 10.62 TH DDC ACHE
22 10.4 TH MAOB MAOA DDC
23
Show member pathways
10.36 TH MAOA DDC DBH ACHE

GO Terms for Pure Autonomic Failure

Cellular components related to Pure Autonomic Failure according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 TTR SNCA REN NPPA EPO DBH
2 synaptic vesicle GO:0008021 9.33 TH SNCA DDC
3 extracellular space GO:0005615 9.23 TTR SNCA REN NPPA EPO DBH

Biological processes related to Pure Autonomic Failure according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10 TH SNCA MAOB MAOA DBH
2 response to drug GO:0042493 9.85 TH SNCA REN MAOB
3 response to lipopolysaccharide GO:0032496 9.72 TH SNCA REN MAOB EPO
4 cellular response to drug GO:0035690 9.69 TH REN DDC
5 regulation of blood pressure GO:0008217 9.67 REN NPPA GNB3 ACE
6 response to immobilization stress GO:0035902 9.63 TH REN
7 positive regulation of endocytosis GO:0045807 9.62 SNCA NEDD4L
8 response to corticosterone GO:0051412 9.62 TH MAOB
9 response to metal ion GO:0010038 9.61 TH NEDD4L
10 multicellular organism aging GO:0010259 9.61 TH DDC
11 amyloid-beta metabolic process GO:0050435 9.59 REN ACE
12 neurotransmitter biosynthetic process GO:0042136 9.58 TH ACHE
13 catecholamine metabolic process GO:0006584 9.58 MAOA DDC
14 angiotensin maturation GO:0002003 9.57 REN ACE
15 synaptic transmission, dopaminergic GO:0001963 9.56 TH SNCA
16 response to salt stress GO:0009651 9.54 TH EPO
17 cellular response to alkaloid GO:0071312 9.52 TH DDC
18 norepinephrine biosynthetic process GO:0042421 9.49 TH DBH
19 response to pyrethroid GO:0046684 9.48 TH DDC
20 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.46 TH DDC
21 isoquinoline alkaloid metabolic process GO:0033076 9.43 TH DDC
22 neurotransmitter catabolic process GO:0042135 9.43 MAOB MAOA ACHE
23 phytoalexin metabolic process GO:0052314 9.4 TH DDC
24 dopamine biosynthetic process GO:0042416 9.33 TH SNCA DDC
25 dopamine catabolic process GO:0042420 9.13 MAOB MAOA DBH
26 catecholamine biosynthetic process GO:0042423 8.8 TH DDC DBH

Molecular functions related to Pure Autonomic Failure according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 TTR TH SNCA REN PDE5A NPPA
2 oxidoreductase activity GO:0016491 9.35 TH SNCA MAOB MAOA DBH
3 hormone activity GO:0005179 9.33 TTR NPPA EPO
4 amino acid binding GO:0016597 9.32 TH DDC
5 primary amine oxidase activity GO:0008131 8.62 MAOB MAOA

Sources for Pure Autonomic Failure

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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