MCID: PRT058
MIFTS: 60

Pure Autonomic Failure

Categories: Rare diseases, Cardiovascular diseases, Neuronal diseases

Aliases & Classifications for Pure Autonomic Failure

MalaCards integrated aliases for Pure Autonomic Failure:

Name: Pure Autonomic Failure 49 55 51 69
Idiopathic Orthostatic Hypotension 49 55 69
Bradbury-Eggleston Syndrome 49 50 55
Orthostatic Hypotension 49 50 28
Bradbury Eggleston Syndrome 49
Pure Idiopatic Dysautonomia 55
Hypotension Orthostatic 51
Pure Dysautonomia 55
Paf 55

Characteristics:

Orphanet epidemiological data:

55
pure autonomic failure
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA441
MESH via Orphanet 42 C544351 D054970
UMLS via Orphanet 70 C0393911 C2931939
ICD10 via Orphanet 33 G90.3
ICD10 32 I95.1

Summaries for Pure Autonomic Failure

NINDS : 50 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).

MalaCards based summary : Pure Autonomic Failure, also known as idiopathic orthostatic hypotension, is related to multiple system atrophy 1 and autonomic dysfunction, and has symptoms including anhidrosis, orthostatic hypotension and dysautonomia. 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 Midodrine and Droxidopa have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and spinal cord, and related phenotypes are homeostasis/metabolism and behavior/neurological

NIH Rare Diseases : 49 Pure autonomic failure is characterized by generalized autonomic failure without central nervous system (brain or spinal cord) involvement. The autonomic nervous system is the part of our bodies that controls involuntary actions, such as the widening or narrowing of our blood vessels. Failure of this system can cause a variety of symptoms. The most common symptom of pure autonomic failure is orthostatic hypotension. Other symptoms may include decreased sweating, heat intolerance, inability to empty the bladder, erectile dysfunction, incontinence or constipation, and pupil changes. The cause of this condition is usually unknown. Last updated: 4/9/2015

Wikipedia : 72 Pure autonomic failure (PAF), also known as Bradbury-Eggleston syndrome or idiopathic orthostatic... 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 85)
# Related Disease Score Top Affiliating Genes
1 multiple system atrophy 1 32.9 DBH SNCA TH
2 autonomic dysfunction 32.7 DBH SNCA
3 rem sleep behavior disorder 30.1 ACHE SNCA
4 synucleinopathy 29.9 DDC MAOB SNCA TH
5 postural hypotension 29.7 DBH DDC NPPA REN
6 parkinson disease, late-onset 28.4 ACHE DBH DDC MAOA MAOB SNCA
7 dysautonomia 11.4
8 primary orthostatic hypotension 11.2
9 platelet-activating factor acetylhydrolase deficiency 11.1
10 neuropathy, hereditary sensory and autonomic, type iii 11.0
11 orthostatic intolerance 10.7
12 hereditary dystonia 10.5 DBH TH
13 hyporeninemic hypoaldosteronism 10.5 ACE REN
14 renal artery obstruction 10.5 ACE REN
15 hypertension, diastolic 10.4 ACE REN
16 atrial septal defect 4 10.4 ACE REN
17 hypertensive retinopathy 10.4 ACE REN
18 supratentorial primitive neuroectodermal tumor 10.4 DDC TH
19 orthostatic proteinuria 10.4 ACE REN
20 hypertensive encephalopathy 10.4 ACE EPO
21 anterolateral myocardial infarction 10.4 ACE NPPA
22 diabetic autonomic neuropathy 10.3 DBH EPO
23 movement disease 10.3 DDC SNCA TH
24 amyloidosis, hereditary, transthyretin-related 10.3 DBH TTR
25 gastroesophageal reflux 10.3
26 hypoganglionosis 10.3 ACHE TH
27 hypoaldosteronism 10.3 ACE NPPA REN
28 malignant essential hypertension 10.2 ACE REN
29 malignant hypertension 10.2 ACE NPPA REN
30 hepatorenal syndrome 10.2 ACE NPPA REN
31 syndrome of inappropriate antidiuretic hormone 10.2 ACE NPPA
32 renovascular hypertension 10.2 ACE NPPA REN
33 urinary system disease 10.2 ACE EPO REN
34 aortic valve disease 2 10.2 ACE NPPA REN
35 anuria 10.2 ACE REN
36 acquired metabolic disease 10.2 ACE REN TTR
37 endotheliitis 10.2
38 early-onset schizophrenia 10.2 DBH MAOA TH
39 conn's syndrome 10.2 ACE NPPA REN
40 postencephalitic parkinson disease 10.2 MAOB SNCA
41 supranuclear palsy, progressive, 1 10.1 ACHE SNCA TH
42 oculogyric crisis 10.1 DDC MAOB
43 vasculogenic impotence 10.1 ACE NPPA PDE5A
44 renal hypertension 10.1 ACE DBH EPO REN
45 pheochromocytoma 10.1 DBH DDC NPPA TH
46 renal artery disease 10.0 ACE EPO NPPA REN
47 cerebrovascular disease 10.0 ACE ACHE REN
48 congestive heart failure 10.0 ACE EPO NPPA REN
49 asthma 10.0
50 atypical depressive disorder 10.0 MAOA MAOB

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:

55 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anhidrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000970
2 orthostatic hypotension 55 31 hallmark (90%) Very frequent (99-80%) HP:0001278
3 dysautonomia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002459
4 abnormality of circulating catecholamine level 55 31 hallmark (90%) Very frequent (99-80%) HP:0012099
5 urinary incontinence 55 31 frequent (33%) Frequent (79-30%) HP:0000020
6 syncope 55 31 frequent (33%) Frequent (79-30%) HP:0001279
7 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
8 dysuria 55 31 frequent (33%) Frequent (79-30%) HP:0100518
9 impotence 55 31 occasional (7.5%) Occasional (29-5%) HP:0000802
10 constitutional symptom 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Pure Autonomic Failure:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 TTR TH MAOB ACHE NEDD4L DBH
2 behavior/neurological MP:0005386 10.1 TH MAOB ACHE NEDD4L DBH DDC
3 cardiovascular system MP:0005385 10.07 TH NEDD4L DBH NPPA DDC REN
4 mortality/aging MP:0010768 9.96 TH SNCA ACE ACHE NEDD4L DBH
5 nervous system MP:0003631 9.85 TH SNCA MAOA MAOB ACHE NEDD4L
6 renal/urinary system MP:0005367 9.5 SNCA ACE MAOB NEDD4L NPPA DDC
7 vision/eye MP:0005391 9.17 TH TTR ACHE NEDD4L DBH DDC

Drugs & Therapeutics for Pure Autonomic Failure

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

(show top 50) (show all 213)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midodrine Approved Phase 4,Phase 1 42794-76-3, 133163-28-7 4195
2
Droxidopa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 23651-95-8 443940
3 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
4 Adrenergic Agents Phase 4,Phase 1,Phase 2,Early Phase 1
5 Adrenergic Agonists Phase 4,Phase 1,Phase 2
6 Adrenergic alpha-Agonists Phase 4,Phase 1,Phase 2
7 Vasoconstrictor Agents Phase 4,Phase 1,Phase 2,Early Phase 1
8 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
9 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
10 Antiparkinson Agents Phase 4,Phase 3,Phase 2,Phase 1
11
Dopamine Approved Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
12
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
13 Rho(D) Immune Globulin Phase 2, Phase 3
14 gamma-Globulins Phase 2, Phase 3
15 Dopamine Agents Phase 3,Phase 2,Phase 1
16 Immunoglobulins Phase 2, Phase 3
17 Immunoglobulins, Intravenous Phase 2, Phase 3
18 Protective Agents Phase 3,Phase 1
19 Antibodies Phase 2, Phase 3
20
Fludrocortisone Approved, Investigational Phase 2 127-31-1 31378
21
Norepinephrine Approved Phase 1, Phase 2 51-41-2 439260
22
Carbidopa Approved Phase 2,Phase 1 28860-95-9 38101 34359
23
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
24
Morphine Approved, Investigational Phase 2 57-27-2 5288826
25
Naloxone Approved, Vet_approved Phase 2 465-65-6 5284596
26 Racepinephrine Approved Phase 2 329-65-7
27 Pyridostigmine Bromide Phase 2,Phase 1 101-26-8
28 Cholinergic Agents Phase 2,Phase 1
29 Cholinesterase Inhibitors Phase 2,Phase 1
30 Anticonvulsants Phase 2,Phase 1
31 Anti-Inflammatory Agents Phase 2,Phase 1
32 Bromides Phase 2,Phase 1
33 insulin Phase 2,Phase 1,Early Phase 1
34 Analgesics Phase 2,Phase 1
35 Respiratory System Agents Phase 2,Phase 1,Early Phase 1
36 Central Nervous System Depressants Phase 2,Phase 1
37 Mydriatics Phase 2,Phase 1
38 Adrenergic beta-Agonists Phase 2,Phase 1
39 Neurotransmitter Uptake Inhibitors Phase 2,Phase 1,Early Phase 1
40 Anti-Asthmatic Agents Phase 2,Phase 1,Early Phase 1
41 Insulin, Globin Zinc Phase 2,Phase 1,Early Phase 1
42 Atomoxetine Hydrochloride Phase 2,Phase 1
43 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2,Phase 1
44 Bronchodilator Agents Phase 2,Phase 1,Early Phase 1
45 Narcotic Antagonists Phase 2
46 Narcotics Phase 2
47 Analgesics, Opioid Phase 2
48 Epinephryl borate Phase 2
49
Isoproterenol Approved, Investigational Phase 1 7683-59-2 3779
50
Clonidine Approved Phase 1 4205-90-7 2803

Interventional clinical trials:

(show top 50) (show all 68)

# Name Status NCT ID Phase Drugs
1 A Study for Patients With Neurogenic Orthostatic Hypotension Completed NCT00046475 Phase 4 Midodrine Hydrochloride
2 Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension Recruiting NCT02586623 Phase 4 Droxidopa capsules;Placebo capsules
3 A Phase IV Study in Subjects With Neurogenic Orthostatic Hypotension Terminated NCT00046163 Phase 4 midodrine hydrochloride (ProAmatine®)
4 A Clinical Study for Patients With Neurogenic Orthostatic Hypotension (NOH) Using Droxidopa Completed NCT00782340 Phase 3 Placebo;Droxidopa
5 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00633880 Phase 3 Placebo;Droxidopa
6 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) (Droxi-304) Completed NCT01132326 Phase 3 Droxidopa
7 Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00738062 Phase 3 Droxidopa;Placebo
8 Evaluating the Effectiveness of Intravenous Immunoglobulin Therapy in Autoimmune Autonomic Ganglionopathy Completed NCT01522235 Phase 2, Phase 3 Double blinded IVIg
9 A Clinical Study of Patients With Symptomatic NOH to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
10 Orthostatic Dysregulation and Associated Gastrointestinal Dysfunction in Parkinson's Disease -Treatment Unknown status NCT01993680 Phase 2 Pyridostigmine bromide;fludrocortisone
11 Fipamezole in Neurogenic Orthostatic Hypotension Unknown status NCT00758849 Phase 2 Placebo;Fipamezole
12 Acetylcholinesterase Inhibition and Orthostatic Hypotension in SCI Completed NCT02307526 Phase 2 Pyridostigmine Bromide
13 Intravenous Norepinephrine for Orthostatic Hypotension Completed NCT01285908 Phase 1, Phase 2 Intravenous Norepinephrine Infusion
14 Study of Droxidopa Treatment in Adults With Attention Deficit Hyperactivity Disorder With Co-administration of Carbidopa Completed NCT00983814 Phase 2 Droxidopa+Carbidopa;Placebo
15 Norepinephrine Transporter Blockade, Autonomic Failure Recruiting NCT02796209 Phase 2 Atomexetine;Placebo
16 Mechanisms Responsible for Hypoglycemia Associated Autonomic Failure Recruiting NCT00678145 Phase 2 naloxone;Morphine sulfate;Epinephrine
17 Norepinephrine Transporter Blockade, Autonomic Failure (NETAF) Recruiting NCT02784535 Phase 2 Atomoxetine;Placebo
18 TD-9855 Phase 2 in Neurogenic Orthostatic Hypotension (nOH) Recruiting NCT02705755 Phase 2 TD-9855;Placebo
19 Naloxone, Hypoglycemia and Exercise Recruiting NCT03149770 Phase 2 Naloxone;Placebo
20 A Study of Norepinephrine in Patients With Congenital Insensitivity to Pain and Anhidrosis Withdrawn NCT02624310 Phase 2 Droxidopa (L-DOPS);Placebo
21 Assessment of Hand-grip in the Prevention of Postural Orthostatic Hypotension Unknown status NCT01521221 Phase 1
22 Treatment of Orthostatic Hypotension in 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
23 Treatment of Supine Hypertension in Autonomic Failure Completed NCT00223717 Phase 1 Clonidine;Nitroglycerin transdermal;Dipyridamole/ Aspirin (Aggrenox);Desmopressin (DDAVP);Sildenafil;Nifedipine;Hydralazine;Hydrochlorothiazide;Placebo;Bosentan;Diltiazem;Eplerenone;guanfacine;captopril;carbidopa;losartan;metoprolol tartrate;nebivolol hydrochloride;prazosin hydrochloride;tamsulosin hydrochloride;aliskiren
24 The Autonomic Nervous System and Obesity Completed NCT00179023 Phase 1 Trimethaphan;Trimethaphan;Pseudoephedrine
25 Hemodynamic Mechanisms of Abdominal Compression in the Treatment of Orthostatic Hypotension in Autonomic Failure Recruiting NCT02429557 Phase 1 Placebo pill;midodrine
26 Effects of Midodrine and Droxidopa on Splanchnic Capacitance in Autonomic Failure Recruiting NCT02897063 Phase 1 Droxidopa;Midodrine;Placebo
27 The Role of Endothelin in the Supine Hypertension of Autonomic Failure Enrolling by invitation NCT01119417 Phase 1 BQ123;BQ123;Bq123;BQ123;Saline
28 Liver Glycogen and Hypoglycemia in Humans Not yet recruiting NCT03241706 Phase 1 Fructose;Saline;Somatostatin;Insulin;Glucagon;Dextrose solution
29 Contribution of Angiotensin II to Supine Hypertension in Autonomic Failure Terminated NCT01292694 Phase 1 Losartan;Captopril;Placebo
30 Risk Prediction in Type II Diabetics With Ischemic Heart Disease Unknown status NCT01422057
31 Physiopathological Study of Autonomic Failure in Parkinson's Disease Completed NCT01748409
32 Plasma Exchange for Autoimmune Autonomic Failure Completed NCT00359346
33 Autonomic Failure Patients for RNA Blood Sampling Completed NCT00742586
34 Norepinephrine Transporter Blockade as a Pathological Biomarker in Neurogenic Orthostatic Hypotension Completed NCT01316666
35 Nebivolol in the Supine Hypertension of Autonomic Failure Completed NCT01044693 Placebo;Nebivolol 5 mg;metoprolol tartrate 50 mg;Sildenafil25 mg
36 Nitric Oxide and the Autonomic Nervous System Completed NCT00178919 L-NMMA;Trimethaphan
37 Hypoglycemia Associated Autonomic Failure in Type 1 DM Completed NCT00592670 Fluoxetine;Placebo
38 Hypoglycemia Associated Autonomic Failure in Type 1 DM, Q2 Completed NCT00592332 Alprazolam
39 Abdominal Compression in Orthostatic Hypotension Completed NCT01223391
40 Study of Idiopathic Edema Completed NCT01681927
41 Testing Glial Pathways to HAAF in Human Subjects Using Carbon 13 Magnetic Resonance Spectroscopy Completed NCT02690168
42 Posture Detection for Automated Abdominal Binder Completed NCT02280369
43 UTLight-transcranial Doppler Assessment of Regional Cerebral Autoregulation Completed NCT02178787
44 Importance of Liver Innervation for the Osmopressor Response in Humans Completed NCT01237431
45 Study of Norepinephrine Levels and Sympathetic Nervous System Activity Completed NCT00001329
46 Recurrent Hypoglycaemia in Type 1 Diabetes Completed NCT01337362
47 Treatment of Supine Hypertension in Autonomic Failure (CPAP) Recruiting NCT03312556 Placebo
48 Overnight Trials With Heat Stress in Autonomic Failure Patients With Supine Hypertension Recruiting NCT03042988
49 Local Heat Stress in Autonomic Failure Patients With Supine Hypertension Recruiting NCT02417415
50 Blood Pressure Lowering Effects of Angiotensin-(1-7) in Primary Autonomic Failure Recruiting NCT02591173 Early Phase 1 Angiotensin-(1-7);Saline

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 28

Anatomical Context for Pure Autonomic Failure

MalaCards organs/tissues related to Pure Autonomic Failure:

38
Heart, Brain, Spinal Cord, Liver, Skin, Testes, Cingulate Cortex

Publications for Pure Autonomic Failure

Articles related to Pure Autonomic Failure:

(show top 50) (show all 93)
# Title Authors Year
1
Does sympathetic dysfunction occur before denervation in pure autonomic failure? ( 29162745 )
2018
2
Sympathetic neurograms showing characteristics of both muscle and skin sympathetic nerve activity in a case with pure autonomic failure. ( 29313154 )
2018
3
Pure autonomic failure without alpha-synuclein pathology: an evolving understanding of a heterogeneous disease. ( 28236005 )
2017
4
Natural history of pure autonomic failure: A United States prospective cohort. ( 28093795 )
2017
5
Very late-onset pure autonomic failure. ( 28436596 )
2017
6
Reply to "Pure autonomic failure vs. Manifest CNS synucleinopathy: Relevance of stridor and autonomic biomarkers". ( 28472861 )
2017
7
Pure autonomic failure without synucleinopathy. ( 28188385 )
2017
8
Managing neurogenic orthostatic hypotension in a patient presenting with pure autonomic failure who later developed Parkinson disease. ( 28699048 )
2017
9
Pure autonomic failure versus prodromal dysautonomia in Parkinsona89s disease: Insights from the bedside. ( 28164144 )
2017
10
Pure autonomic failure. ( 28717053 )
2017
11
Letter on "Natural history of pure autonomic failure: A United States prospective cohort". ( 28472851 )
2017
12
Pure autonomic failure: Predictors of conversion to clinical CNS involvement. ( 28202694 )
2017
13
Is pure autonomic failure a distinct nosologic entity? ( 28303413 )
2017
14
Is pure autonomic failure an early marker for Parkinson disease, dementia with Lewy bodies, and multiple system atrophy? And other updates on recent autonomic research. ( 28255741 )
2017
15
Pure Autonomic Failure. ( 27338613 )
2016
16
Skin nerve misfolded I+-synuclein in pure autonomic failure and Parkinson disease. ( 26606657 )
2016
17
A case series of REM sleep behavior disorder in pure autonomic failure. ( 27757562 )
2016
18
Successful long-term ambulatory norepinephrine infusions in a patient with pure autonomic failure. ( 26138858 )
2015
19
Skin sympathetic fiber I+-synuclein deposits: A potential biomarker for pure autonomic failure. ( 24379100 )
2014
20
Alpha-synuclein accumulation in a patient with Auerbach's plexus of pure autonomic failure. ( 25274243 )
2014
21
Antemortem detection of colonic I+-synuclein pathology in a patient with pure autonomic failure. ( 25319021 )
2014
22
Incidence of cerebrovascular lesions in pure autonomic failure. ( 23706609 )
2013
23
Skin sympathetic fiber I+-synuclein deposits: a potential biomarker for pure autonomic failure. ( 23390175 )
2013
24
Pure autonomic failure. ( 24095130 )
2013
25
Pure autonomic failure with cold induced sweating. ( 23511064 )
2013
26
I+-Synuclein in the skin nerve of pure autonomic failure. ( 22186004 )
2011
27
Pure autonomic failure: a restricted Lewy body synucleinopathy or early Parkinson disease? ( 20157156 )
2010
28
alpha-synuclein accumulation in skin nerve fibers revealed by skin biopsy in pure autonomic failure. ( 20157164 )
2010
29
Autonomic innervation in multiple system atrophy and pure autonomic failure. ( 20660924 )
2010
30
Renal impairment of pure autonomic failure. ( 19738158 )
2009
31
Olfactory dysfunction in pure autonomic failure: Implications for the pathogenesis of Lewy body diseases. ( 19201246 )
2009
32
Differences in skin sympathetic involvements between two chronic autonomic disorders: multiple system atrophy and pure autonomic failure. ( 18805037 )
2009
33
Reduced perfusion in the anterior cingulate cortex of patients with pure autonomic failure: an 123I-IMP SPECT study. ( 19684240 )
2009
34
Exercise-induced hypertension in pure autonomic failure. ( 19538201 )
2009
35
Hyposmia in pure autonomic failure. ( 19433741 )
2009
36
Effects of water drinking on cardiovascular responses to supine exercise and on orthostatic hypotension after exercise in pure autonomic failure. ( 18469030 )
2008
37
Central dopamine deficiency in pure autonomic failure. ( 18363034 )
2008
38
Frequent nocturnal vocalization in pure autonomic failure. ( 18534130 )
2008
39
Pure autonomic failure followed by amyotrophy. ( 17339594 )
2007
40
Hemodynamic effects of clonidine in two contrasting models of autonomic failure: multiple system atrophy and pure autonomic failure. ( 16404729 )
2006
41
Cognitive functioning in orthostatic hypotension due to pure autonomic failure. ( 16683070 )
2006
42
Cevimeline hydrochloride improved cholinergic dysfunction in a patient with pure autonomic failure. ( 15995794 )
2006
43
Cerebral vasomotor reactivity in Parkinson's disease, multiple system atrophy and pure autonomic failure. ( 16438986 )
2006
44
Chronic intestinal pseudo-obstruction as the initial feature of pure autonomic failure. ( 16705209 )
2006
45
Reduced cardiac uptake and enhanced washout of 123I-MIBG in pure autonomic failure occurs conjointly with Parkinson's disease and dementia with Lewy bodies. ( 16818943 )
2006
46
REM sleep behavioral disorder in pure autonomic failure (PAF). ( 16505328 )
2006
47
Pure autonomic failure with altered dopamine transporter imaging. ( 16606777 )
2006
48
Stress induced hypotension in pure autonomic failure. ( 16354738 )
2006
49
Skin vasomotor reflex responses in two contrasting groups of autonomic failure: multiple system atrophy and pure autonomic failure. ( 16845569 )
2006
50
Cardiac and extracardiac sympathetic denervation in Parkinson's disease with orthostatic hypotension and in pure autonomic failure. ( 16269589 )
2005

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 DDC GNB3 MAOA MAOB NPPA SNCA
2
Show member pathways
12.51 ACHE DDC GNB3 MAOA MAOB TH
3 12.43 DBH DDC GNB3 SNCA TH
4
Show member pathways
12.1 ACE ACHE GNB3 REN
5 12.04 DDC GNB3 MAOA TH
6
Show member pathways
11.83 DDC MAOA MAOB TH
7 11.79 DDC GNB3 MAOA MAOB
8 11.66 DBH DDC MAOA TH
9 11.65 DDC SNCA TH
10
Show member pathways
11.43 DBH DDC MAOA MAOB TH
11
Show member pathways
11.29 DBH DDC TH
12
Show member pathways
11.19 ACHE DBH MAOA TH
13 11.16 MAOB SNCA TH
14
Show member pathways
11 ACHE MAOA
15
Show member pathways
10.74 MAOA MAOB
16
Show member pathways
10.67 MAOA MAOB
17 10.58 ACHE DDC TH
18 10.4 DDC MAOA MAOB TH
19
Show member pathways
10.36 ACHE DBH DDC MAOA TH

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 ACE ACHE DBH EPO NPPA REN
2 synaptic vesicle GO:0008021 9.33 DDC SNCA TH
3 extracellular space GO:0005615 9.23 ACE ACHE DBH EPO NPPA REN

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.88 MAOB REN SNCA TH
2 response to lipopolysaccharide GO:0032496 9.77 EPO MAOB REN SNCA TH
3 cellular response to drug GO:0035690 9.69 DDC REN TH
4 response to amphetamine GO:0001975 9.63 DBH TH
5 response to immobilization stress GO:0035902 9.62 REN TH
6 positive regulation of endocytosis GO:0045807 9.62 NEDD4L SNCA
7 regulation of blood pressure GO:0008217 9.62 ACE GNB3 NPPA REN
8 response to metal ion GO:0010038 9.61 NEDD4L TH
9 synaptic transmission, dopaminergic GO:0001963 9.61 SNCA TH
10 multicellular organism aging GO:0010259 9.59 DDC TH
11 response to corticosterone GO:0051412 9.58 MAOB TH
12 amyloid-beta metabolic process GO:0050435 9.57 ACE REN
13 neurotransmitter biosynthetic process GO:0042136 9.56 ACHE TH
14 angiotensin maturation GO:0002003 9.55 ACE REN
15 cellular response to alkaloid GO:0071312 9.54 DDC TH
16 response to salt stress GO:0009651 9.52 EPO TH
17 norepinephrine biosynthetic process GO:0042421 9.49 DBH TH
18 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.48 DDC TH
19 response to pyrethroid GO:0046684 9.46 DDC TH
20 isoquinoline alkaloid metabolic process GO:0033076 9.43 DDC TH
21 neurotransmitter catabolic process GO:0042135 9.43 ACHE MAOA MAOB
22 phytoalexin metabolic process GO:0052314 9.4 DDC TH
23 dopamine biosynthetic process GO:0042416 9.33 DDC SNCA TH
24 dopamine catabolic process GO:0042420 9.13 DBH MAOA MAOB
25 catecholamine biosynthetic process GO:0042423 8.8 DBH DDC TH
26 oxidation-reduction process GO:0055114 10 DBH MAOA MAOB SNCA TH

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 DBH MAOA MAOB SNCA TH
2 hormone activity GO:0005179 9.33 EPO NPPA TTR
3 ferrous iron binding GO:0008198 9.32 SNCA TH
4 amino acid binding GO:0016597 9.26 DDC TH
5 primary amine oxidase activity GO:0008131 8.62 MAOA MAOB

Sources for Pure Autonomic Failure

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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