PAF
MCID: PRT058
MIFTS: 59

Pure Autonomic Failure (PAF)

Categories: Blood diseases, Cardiovascular diseases, Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pure Autonomic Failure

MalaCards integrated aliases for Pure Autonomic Failure:

Name: Pure Autonomic Failure 52 58 54 71
Orthostatic Hypotension 52 25 53 29 17 32
Idiopathic Orthostatic Hypotension 52 58 71
Bradbury-Eggleston Syndrome 52 53 58
Postural Hypotension 25 53
Bradbury Eggleston Syndrome 52
Pure Idiopatic Dysautonomia 58
Hypotension, Orthostatic 25
Hypotension Orthostatic 54
Hypotension, Postural 25
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 44 C544351 D054970
ICD10 via Orphanet 33 G90.3
UMLS via Orphanet 72 C0393911 C2931939
Orphanet 58 ORPHA441
UMLS 71 C0393911 C2931939

Summaries for Pure Autonomic Failure

Genetics Home Reference : 25 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 Enalapril and Enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and spinal cord, and related phenotypes are orthostatic hypotension and anhidrosis

NIH Rare Diseases : 52 Pure autonomic failure (PAF) is a neurodegenerative disease of the autonomic nervous system , which regulates involuntary body processes such as blood pressure and breathing rate. PAF affects only the peripheral autonomic nervous system, which means it does not involve the brain and spinal cord (the central nervous system ). It usually begins in midlife, although it can begin earlier. The main symptom of PAF is orthostatic hypotension , a sudden drop in blood pressure upon standing. This causes a person to feel dizzy and lightheaded, requiring them to sit or lie down to prevent fainting. People with PAF also have an abnormal blood pressure response to other common daily activities or exposures, as well as additional symptoms affecting various body systems. The reason that PAF develops is not known. It is not known to be inherited . 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. Diagnosing PAF may involve tilt table testing , 24-hour blood pressure monitoring, hyperventilation testing, and a norepinephrine blood test. Treatment options do not stop disease progression but help to control symptoms. Options may include avoiding triggers of symptoms, increasing fluid and salt intake, using compressive garments, and/or various medications. PAF usually has a slowly progressive course and may result in a person being restricted to a reclined position in their home.

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 : 74 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 644)
# Related Disease Score Top Affiliating Genes
1 autonomic dysfunction 33.2 SNCA DBH
2 multiple system atrophy 1 32.6 TH SNCA MAOB DBH
3 dementia, lewy body 32.0 TH SNCA MAOB ACHE
4 diabetic autonomic neuropathy 31.1 REN EPO ACE
5 syncope 30.9 NPPA DBH
6 diabetic neuropathy 30.9 REN EPO ACE
7 hypertensive retinopathy 30.4 REN ACE
8 autonomic nervous system disease 30.3 TTR REN ACE
9 end stage renal disease 30.3 REN EPO ACE
10 pulmonary edema 30.3 REN NPPA EPO ACE
11 atrial standstill 1 30.2 TTR NPPA ACE
12 congestive heart failure 30.2 REN PDE5A NPPA EPO ACE
13 mitral valve stenosis 30.2 REN NPPA ACE
14 mitral valve insufficiency 30.2 REN NPPA ACE
15 heart valve disease 30.1 REN NPPA ACE
16 aortic valve disease 2 30.1 REN NPPA ACE
17 hypoaldosteronism 30.1 REN NPPA ACE
18 pulmonary hypertension 30.1 REN PDE5A NPPA ACE
19 movement disease 30.1 TH SNCA MAOB DDC
20 sleep apnea 30.1 REN EPO ACE
21 sleep disorder 30.0 TH SNCA REN ACE
22 dopamine beta-hydroxylase deficiency 30.0 TH SNCA DDC DBH
23 renal hypertension 30.0 REN EPO DBH ACE
24 optic nerve disease 29.9 SNCA PDE5A ACE
25 pulmonary embolism 29.9 PDE5A NPPA ACE
26 renovascular hypertension 29.8 REN NPPA ACE
27 uremia 29.8 REN EPO ACE
28 kidney disease 29.8 TTR REN NPPA EPO ACE
29 lipoprotein quantitative trait locus 29.8 REN PDE5A NPPA ACE
30 autonomic neuropathy 29.7 TTR REN EPO DBH
31 neurotic disorder 29.7 TH MAOA
32 cardiac arrest 29.7 REN EPO ACE
33 dementia 29.6 TTR TH SNCA MAOB ACHE ACE
34 heart disease 29.6 TTR REN PDE5A NPPA EPO ACE
35 diabetes mellitus, type i 29.6 REN NPPA DDC ACE
36 cardiovascular system disease 29.6 REN PDE5A NPPA ACE
37 orthostatic intolerance 29.5 REN EPO ACHE ACE
38 endogenous depression 29.4 TH MAOA GNB3
39 polyneuropathy 29.4 TTR EPO ACHE ACE
40 supranuclear palsy, progressive, 1 29.2 TH SNCA MAOB ACHE
41 alcohol dependence 29.2 TH SNCA MAOB MAOA DBH ACE
42 stroke, ischemic 29.2 TH REN NPPA GNB3 ACE
43 attention deficit-hyperactivity disorder 29.0 TH SNCA MAOB MAOA DDC DBH
44 cerebrovascular disease 28.9 TTR REN NPPA GNB3 ACHE ACE
45 chronic kidney disease 28.8 TTR REN NPPA GNB3 EPO ACE
46 respiratory failure 28.8 TTR REN NPPA EPO ACHE ACE
47 peripheral nervous system disease 28.8 TTR SNCA REN EPO ACHE ACE
48 psychotic disorder 28.8 TH MAOB MAOA DBH ACHE
49 myocardial infarction 28.8 REN PDE5A NPPA GNB3 EPO ACE
50 migraine with or without aura 1 28.8 REN PDE5A MAOB MAOA DBH ACE

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 ACE ACHE DBH DDC MAOA MAOB
2 cardiovascular system MP:0005385 10 ACE DBH DDC EPO MAOA NEDD4L
3 homeostasis/metabolism MP:0005376 9.97 ACE ACHE DBH DDC EPO MAOA
4 nervous system MP:0003631 9.65 ACHE DBH DDC GNB3 MAOA MAOB
5 renal/urinary system MP:0005367 9.23 ACE DDC MAOB NEDD4L NPPA REN

Drugs & Therapeutics for Pure Autonomic Failure

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

(show top 50) (show all 347)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalapril Approved, Vet_approved Phase 4 75847-73-3 40466924 5362032
2
Enalaprilat Approved Phase 4 76420-72-9 6917719
3
Promethazine Approved, Investigational Phase 4 60-87-7 4927
4
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
5
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
6
Zolpidem Approved Phase 4 82626-48-0 5732
7
Losartan Approved Phase 4 114798-26-4 3961
8
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
9
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
10
Amlodipine Approved Phase 4 88150-42-9 2162
11
Thrombin Approved, Investigational Phase 4
12
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
13
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
14
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
15
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
16
Clozapine Approved Phase 4 5786-21-0 2818
17
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
18
Ziprasidone Approved Phase 4 146939-27-7 60854
19
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
20
Empagliflozin Approved Phase 4 864070-44-0
21
Repaglinide Approved, Investigational Phase 4 135062-02-1 65981
22
Metformin Approved Phase 4 657-24-9 14219 4091
23
Glimepiride Approved Phase 4 93479-97-1 3476
24
Gliclazide Approved Phase 4 21187-98-4 3475
25
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
26
Canagliflozin Approved Phase 4 842133-18-0
27
Hydralazine Approved Phase 4 86-54-4 3637
28
Morphine Approved, Investigational Phase 4 57-27-2 5288826
29
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
30
Acetaminophen Approved Phase 4 103-90-2 1983
31
Iodine Approved, Investigational Phase 4 7553-56-2 807
32
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
33
Diazoxide Approved Phase 4 364-98-7 3019
34
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
35
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
36
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
37
Trazodone Approved, Investigational Phase 4 19794-93-5 5533
38
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
39
protease inhibitors Phase 4
40 HIV Protease Inhibitors Phase 4
41 Hemostatics Phase 4
42 Coagulants Phase 4
43 insulin Phase 4
44 Hypoglycemic Agents Phase 4
45 Insulin, Globin Zinc Phase 4
46 Dopamine Antagonists Phase 4
47 Dopamine agonists Phase 4
48 Hypnotics and Sedatives Phase 4
49 Serotonin Receptor Agonists Phase 4
50 Immunologic Factors Phase 4

Interventional clinical trials:

(show top 50) (show all 296)
# Name Status NCT ID Phase Drugs
1 Changes of Heart Rate Variability in Schizophrenic and Bipolar Patients Under the Medication of Aripiprazole and Quetiapine Unknown status NCT01047215 Phase 4 Aripiprazole; Quetiapine
2 Comparison of Cognitive Functions of Schizophrenic Patients Treated With Sertindole Versus Risperidone Unknown status NCT00480844 Phase 4 Sertindole;Risperidone
3 A Clinical Study on Anti-Hypertensive Agent (ACEi) and Heart Function Improvement Unknown status NCT01069042 Phase 4 Enalapril
4 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
5 Treatment and Prognosis of Neurogenic Orthostatic Hypotension : A Prospective Randomized Study Completed NCT02308124 Phase 4 Midodrine;Pyridostigmine Bromide;Midodrine + pyridostigmine
6 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
7 Dawn Simulation as a Passive Countermeasure to Postural Hypotension in Healthy Older Adults Completed NCT02632318 Phase 4
8 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
9 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
10 Efficacy and Safety of Midodrine and Atomoxetine Treatment in Patients With Neurogenic Orthostatic Hypotension : A Prospective Randomized Study Completed NCT03350659 Phase 4 Midodrine;Atomoxetine
11 A Clinical Trial of Mirabegron for Overactive Bladder Symptoms in Patients With Parkinson Disease and Impaired Cognition Completed NCT02536976 Phase 4 mirabegron;Placebo
12 A Randomized, Double-blind, Placebo-controlled Cross-over Trial Assessing the Effect of Tadalafil (Cialis) on the Cardiovascular System in Men With Complete Spinal Cord Injury (SCI) at or Above the Sixth Thoracic Level Completed NCT01067391 Phase 4 tadalafil;placebo
13 Effect of Duodenal Levodopa Infusion on Quality of Life and Autonomic Dysfunction in Patients With Parkinson's Disease Completed NCT00914134 Phase 4 Levodopa infusion
14 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
15 A Prospective, Randomized Study to Compare the Addition of Granules of Gelatine + Thrombin to Our Standard of Care (SOC) to Control Post Operative Bleeding in Total Knee Replacement Completed NCT01891461 Phase 4 Floseal
16 A Study of the Safety of Ramelteon in Elderly Subjects Completed NCT00568789 Phase 4 Ramelteon, zolpidem and placebo
17 Risperidone Augmentation in Patients With Schizophrenia Partially Responsive to Clozapine Completed NCT00289861 Phase 4 Risperidone;placebo
18 Adjuvant Analgesic Effects of Low Dose Tramadol/Acetaminophen Combination After Open Gynaecological Surgery Completed NCT00942565 Phase 4 tramadol/acetaminophen;acetaminophen
19 A Placebo-Controlled, Cross-Over Trial of Aripiprazole Added to Obese Olanzapine-Treated Patients With Schizophrenia Completed NCT00351936 Phase 4 Aripiprazole;placebo
20 An Open Label Trial of Ziprasidone as an Adjuvant for Clozapine- or Olanzapine-Associated Diabetes Mellitus or Impaired Fasting Glucose in Chronic Schizophrenia Completed NCT00351000 Phase 4 Ziprasidone
21 A Randomized, Controlled, Double-Blind Trial of 3 Local Anesthetics for Spinal Anesthesia in Primary Total Hip Arthroplasty to Compare the Percentage of Patients in Each Group With Early Ambulation Completed NCT03948386 Phase 4 isobaric bupivacaine;hyperbaric bupivacaine;isobaric mepivacaine
22 SGLT-2 Inhibitor Empagliflozin Effects on Appetite and Weight Regulation: A Randomised Double-blind Placebo-controlled Trial (The SEESAW Study) Completed NCT02798744 Phase 4 Empagliflozin;Placebo
23 A Randomised Controlled Trial for People With Established Type 2 Diabetes During Ramadan: Canagliflozin (Invokana™) vs. Standard Dual Therapy Regimen: The 'Can Do Ramadan' Study Completed NCT02694263 Phase 4 Canagliflozin;Repaglinide;Pioglitazone;Gliclazide;Glimepiride
24 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
25 Dose Response to the Norepinephrine Precursor Droxidopa in Hypotensive Individuals With Spinal Cord Injury Recruiting NCT03602014 Phase 4 Northera
26 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
27 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
28 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. Recruiting NCT03570541 Phase 4 Ropivacaine;Acetaminophen;Morphine;Saline
29 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
30 Evaluation of Efficacy and Tolerance of Fludrocortisone (Flucortac) in the Treatment of Orthostatic Neurogenic Hypotension Not yet recruiting NCT04128137 Phase 4 Fludrocortisone
31 RANDOMIZED CASE-CONTROLLED TRIAL ASSESSING MIDODRINE (GUTRON®) IN POSTOPERATIVE VASOPLEGIC PATIENTS Not yet recruiting NCT04440085 Phase 4 Midodrine Hydrochloride;Placebo
32 Novel Approach for the Prevention of Hypoglycemia Associated Autonomic Failure (HAAF) Suspended NCT03608163 Phase 4 Naloxone;Diazoxide;Placebo (for Naloxone);Placebo (for Diazoxide)
33 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®)
34 Two-phase Randomized Controlled Trial of Low and Moderate Dose Methylphenidate for Non-motor and Postural Symptoms in Parkinson's Disease. Terminated NCT01244269 Phase 4 Methylphenidate;Methylphenidate;Placebo 10;Placebo 20
35 Stabilisation de la qualité du Sommeil Chez le Sujet en Douleurs Orofaciales Chroniques - étude expérimentale en chassé croisé : Trazodone/ Placebo Terminated NCT03522207 Phase 4 Trazodone;Placebos;Trazodone;placebos
36 Impact of Pre-treatment With 600mg of Clopidogrel (Plavix) on the Incidence of Ischemic and Hemorrhagic Complications in Patients Undergoing Elective Percutaneous Coronary Revascularization.--Prospective Randomized Trial. Terminated NCT00421252 Phase 4 clopidogrel 600 mg
37 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 Unknown status NCT02071459 Phase 2, Phase 3 L-Threo DOPS;placebo
38 Effect of Nigella Sativa Seed Extract on the Blood Pressure of Elderly With Hypertension Unknown status NCT01393054 Phase 3 Nigella sativa
39 Ultrasound Guided Motor Sparing Knee Blocks With or Without Dexmedetomidine for Postoperative Analgesia Following Knee Arthroplasty: a Randomized Double Blinded Study Unknown status NCT02540070 Phase 3 Ropivacaine;epinephrine;morphine;Ketorolac;Dexmedetomidine;saline
40 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
41 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
42 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
43 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
44 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
45 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
46 Effect of Preoperative Intravenous High Dose Methylprednisolone on Orthostatic Intolerance and Heart Rate Variability in Patients Scheduled for Total Hip-arthroplasty Completed NCT02445898 Phase 2, Phase 3 Methylprednisolone;Isotonic Sodium Chloride
47 Prevention of Low Blood Pressure in Persons With Tetraplegia Completed NCT00237770 Phase 2, Phase 3 N-Nitro L-arginine-methylester (L-NAME)
48 A Double-blind, Randomized, Placebo-controlled Trial to Evaluate the Efficacy of Intravenous Immunoglobulin Therapy in Autoimmune Autonomic Ganglionopathy. Completed NCT01522235 Phase 2, Phase 3 Double blinded IVIg
49 Randomized Controlled Trial on Discontinuation of Vasoactive Drugs in Patients With Hypotensive Reflex Syncope Completed NCT02137278 Phase 3 Vasoactive drug therapies
50 Effects of Escitalopram vs. Duloxetine on Heart Rate Variability and Autonomic Cardiovascular Control Completed NCT00215228 Phase 2, Phase 3 duloxetine vs. escitalopram

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
Heart, Testes, Spinal Cord, Brain, Kidney, Prostate, Skin

Publications for Pure Autonomic Failure

Articles related to Pure Autonomic Failure:

(show top 50) (show all 5328)
# Title Authors PMID Year
1
Pure Autonomic Failure. 52 61
27338613 2016
2
alpha-synuclein accumulation in skin nerve fibers revealed by skin biopsy in pure autonomic failure. 61 54
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. 54 61
18925459 2008
6
The pathophysiology and diagnosis of orthostatic hypotension. 61 54
18368300 2008
7
Erectile dysfunction and hypertension. 61 54
17151696 2007
8
Pyridostigmine in the treatment of orthostatic intolerance. 54 61
17284509 2007
9
L-Dihydroxyphenylserine (L-DOPS): a norepinephrine prodrug. 54 61
17214596 2006
10
Acetylcholinesterase inhibition in patients with orthostatic intolerance. 61 54
17016160 2006
11
Pupil abnormalities in selected autonomic neuropathies. 54 61
16966943 2006
12
Pyridostigmine in autonomic failure: can we treat postural hypotension and bladder dysfunction with one drug? 61 54
16862395 2006
13
Phosphodiesterase-5 inhibitors and their hemodynamic effects. 61 54
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. 61 54
17017570 2006
17
[Genetics in neurocardiogenic syncope]. 61 54
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
Partial angiotensin-converting enzyme inhibition during acute orthostatic stress in persons with tetraplegia. 61 54
15889697 2005
21
Alternatives to levodopa in the initial treatment of early Parkinson's disease. 61 54
16156677 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. 54 61
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. 61 54
12832331 2003
26
Successful treatment of severe orthostatic hypotension with erythropoietin. 61 54
12685148 2003
27
[The most common dysautonomias]. 61 54
12577222 2003
28
Autonomic neuropathies. 61 54
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. 61 54
11910300 2002
31
Diagnosis and treatment of supine hypertension in autonomic failure patients with orthostatic hypotension. 54 61
11927799 2002
32
Accumulation of alpha-synuclein in autonomic nerves in pure autonomic failure. 54 61
11294945 2001
33
Pure autonomic failure in association with human alpha-synucleinopathy. 61 54
11109008 2000
34
Hypovolemia contributes to the pathogenesis of orthostatic hypotension in patients with diabetes mellitus. 61 54
10320117 1999
35
Bilateral Horner's syndrome: detection and occurrence. 61 54
9886450 1999
36
Autonomic neuropathies. 54 61
9848003 1998
37
[Pharmacologic approach to autonomic failure]. 61 54
9773098 1998
38
Failure of erythropoietin treatment in a case with primary autonomic failure. 61 54
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. 61 54
8946333 1996
41
Atrial natriuretic peptide in multiple system atrophy. 54 61
8897999 1996
42
Orthostatic hypotension and vasodilatory peptides in bronchial carcinoma. 61 54
8567995 1995
43
[Familial amyloidotic polyneuropathy (FAP) type I and the therapies]. 54 61
8752420 1995
44
Influence of orthostatic hypotension in Parkinson's disease on plasma atrial natriuretic peptide. 54 61
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. 61 54
8520216 1995
47
Recent advances in geriatric psychopharmacology. 61 54
8535049 1995
48
Genetic determinants of dopaminergic activity: potential role in blood pressure regulation. 61 54
8529034 1995
49
Postural hypotension enhanced by exercise in patients with chronic autonomic failure. 54 61
7796074 1995
50
Abnormal cardiovascular and catecholamine responses to supine exercise in human subjects with sympathetic dysfunction. 54 61
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
13.62 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
11.43 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
11.01 MAOA ACHE
18
Show member pathways
10.92 TH MAOB MAOA DBH
19
Show member pathways
10.81 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 9.99 TH SNCA MAOB MAOA DBH
2 response to drug GO:0042493 9.87 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 positive regulation of endocytosis GO:0045807 9.63 SNCA NEDD4L
7 response to immobilization stress GO:0035902 9.62 TH REN
8 response to metal ion GO:0010038 9.62 TH NEDD4L
9 synaptic transmission, dopaminergic GO:0001963 9.61 TH SNCA
10 response to corticosterone GO:0051412 9.61 TH MAOB
11 multicellular organism aging GO:0010259 9.6 TH DDC
12 amyloid-beta metabolic process GO:0050435 9.58 REN ACE
13 neurotransmitter biosynthetic process GO:0042136 9.58 TH ACHE
14 catecholamine metabolic process GO:0006584 9.56 MAOA DDC
15 angiotensin maturation GO:0002003 9.55 REN ACE
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 dopamine biosynthetic process GO:0042416 9.43 TH SNCA DDC
23 phytoalexin metabolic process GO:0052314 9.4 TH DDC
24 neurotransmitter catabolic process GO:0042135 9.33 MAOB MAOA ACHE
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 oxidoreductase activity GO:0016491 9.35 TH SNCA MAOB MAOA DBH
2 hormone activity GO:0005179 9.33 TTR NPPA EPO
3 ferrous iron binding GO:0008198 9.32 TH SNCA
4 amino acid binding GO:0016597 9.26 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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