PAF
MCID: PRT058
MIFTS: 61

Pure Autonomic Failure (PAF)

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

Aliases & Classifications for Pure Autonomic Failure

MalaCards integrated aliases for Pure Autonomic Failure:

Name: Pure Autonomic Failure 53 59 55 73
Idiopathic Orthostatic Hypotension 53 59 73
Bradbury-Eggleston Syndrome 53 54 59
Orthostatic Hypotension 53 54 29
Bradbury Eggleston Syndrome 53
Pure Idiopatic Dysautonomia 59
Hypotension Orthostatic 55
Pure Dysautonomia 59
Paf 59

Characteristics:

Orphanet epidemiological data:

59
pure autonomic failure
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA441
MESH via Orphanet 45 D054970 C544351
UMLS via Orphanet 74 C0393911 C2931939
ICD10 via Orphanet 34 G90.3
ICD10 33 I95.1

Summaries for Pure Autonomic Failure

NINDS : 54 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 amyloidosis, hereditary, transthyretin-related. 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 brain, spinal cord and heart, and related phenotypes are constipation and urinary incontinence

NIH Rare Diseases : 53 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.

Wikipedia : 76 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 241)
# Related Disease Score Top Affiliating Genes
1 multiple system atrophy 1 32.8 DBH SNCA TH
2 amyloidosis, hereditary, transthyretin-related 32.6 DBH TTR
3 dopamine beta-hydroxylase deficiency, congenital 32.5 DBH DDC MAOA TH
4 syncope 30.7 GNB3 NPPA
5 synucleinopathy 30.1 DDC MAOB SNCA TH
6 movement disease 30.1 DDC SNCA TH
7 pheochromocytoma 30.0 DBH DDC MAOB REN TH
8 pulmonary edema 30.0 ACE NPPA REN
9 rem sleep behavior disorder 29.9 ACHE SNCA
10 congestive heart failure 29.9 ACE EPO NPPA REN
11 postural hypotension 29.8 DBH DDC NPPA REN
12 chronic kidney failure 29.6 ACE EPO NPPA REN TTR
13 kidney disease 29.6 ACE EPO NPPA REN TTR
14 parkinson disease, late-onset 29.5 ACHE DBH DDC MAOA MAOB SNCA
15 myocardial infarction 29.0 ACE GNB3 NPPA PDE5A REN
16 orthostatic hypotensive disorder, streeten type 12.6
17 multiple system atrophy with orthostatic hypotension 12.3
18 primary orthostatic hypotension 11.7
19 autoimmune autonomic ganglionopathy 11.6
20 dysautonomia 11.5
21 platelet-activating factor acetylhydrolase deficiency 11.2
22 achalasia-addisonianism-alacrima syndrome 11.2
23 syncope, familial vasovagal 11.2
24 neuropathy, hereditary sensory and autonomic, type iii 11.2
25 orthostatic intolerance 11.0
26 postural orthostatic tachycardia syndrome 10.8
27 neuropathy 10.4
28 gastroesophageal reflux 10.4
29 autonomic neuropathy 10.4
30 spinal cord injury 10.3
31 pernicious anemia 10.3
32 diabetic autonomic neuropathy 10.3
33 quadriplegia 10.3
34 hereditary dystonia 10.3 DBH TH
35 hyporeninemic hypoaldosteronism 10.2 ACE REN
36 renal artery obstruction 10.2 ACE REN
37 supratentorial primitive neuroectodermal tumor 10.2 DDC TH
38 hypertension, diastolic 10.2 ACE REN
39 hypertensive retinopathy 10.2 ACE REN
40 orthostatic proteinuria 10.2 ACE REN
41 malignant essential hypertension 10.2 ACE REN
42 anterolateral myocardial infarction 10.2 ACE NPPA
43 anuria 10.2 ACE REN
44 asthma 10.2
45 bladder neck obstruction 10.2 ACE TTR
46 autoimmune polyendocrine syndrome type 1 10.2 DDC TH
47 syndrome of inappropriate antidiuretic hormone 10.2 ACE NPPA
48 adie pupil 10.2
49 intracranial hypotension 10.2
50 hemangioblastoma 10.2

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:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
2 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
3 anhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000970
4 syncope 59 32 frequent (33%) Frequent (79-30%) HP:0001279
5 impotence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000802
6 dysuria 59 32 frequent (33%) Frequent (79-30%) HP:0100518
7 orthostatic hypotension 59 32 hallmark (90%) Very frequent (99-80%) HP:0001278
8 abnormality of circulating catecholamine level 59 32 hallmark (90%) Very frequent (99-80%) HP:0012099
9 dysautonomia 59 Very frequent (99-80%)
10 constitutional symptom 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Pure Autonomic Failure:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 ACE ACHE DBH DDC EPO MAOA
2 cardiovascular system MP:0005385 10.11 ACE DBH DDC EPO MAOA NEDD4L
3 behavior/neurological MP:0005386 10.1 ACE ACHE DBH DDC MAOA MAOB
4 mortality/aging MP:0010768 9.96 ACE ACHE DBH DDC EPO GNB3
5 nervous system MP:0003631 9.85 ACHE DBH DDC GNB3 MAOA MAOB
6 renal/urinary system MP:0005367 9.56 ACE DDC MAOB NEDD4L NPPA REN
7 vision/eye MP:0005391 9.17 ACHE DBH DDC GNB3 NEDD4L TH

Drugs & Therapeutics for Pure Autonomic Failure

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

(show top 50) (show all 217)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midodrine Approved Phase 4,Phase 1 133163-28-7, 42794-76-3 4195
2
Droxidopa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 23651-95-8 443940
3
Naloxone Approved, Vet_approved Phase 4,Phase 2 465-65-6 5284596
4
Diazoxide Approved Phase 4 364-98-7 3019
5 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
6 Adrenergic Agonists Phase 4,Phase 1,Phase 2,Not Applicable
7 Vasoconstrictor Agents Phase 4,Phase 1,Phase 2,Early Phase 1,Not Applicable
8 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
9 Adrenergic alpha-Agonists Phase 4,Phase 1,Phase 2,Not Applicable
10 Sympathomimetics Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1,Not Applicable
11 Adrenergic Agents Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
12 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
13 Antihypertensive Agents Phase 4,Phase 1,Not Applicable,Early Phase 1
14 insulin Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable
15 Hypoglycemic Agents Phase 4,Phase 1,Early Phase 1,Not Applicable
16 Insulin, Globin Zinc Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable
17 Vasodilator Agents Phase 4,Phase 1,Not Applicable,Early Phase 1
18 Antiparkinson Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Narcotics Phase 4,Phase 2
20 Narcotic Antagonists Phase 4,Phase 2
21
Dopamine Approved Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
22
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
23 Protective Agents Phase 3,Phase 1,Not Applicable
24 Cardiotonic Agents Phase 3,Phase 1
25 Dopamine Agents Phase 3,Phase 2,Phase 1
26 Immunoglobulins, Intravenous Phase 2, Phase 3
27 gamma-Globulins Phase 2, Phase 3
28 Rho(D) Immune Globulin Phase 2, Phase 3
29 Antibodies Phase 2, Phase 3
30 Immunoglobulins Phase 2, Phase 3
31 Immunologic Factors Phase 2, Phase 3,Phase 1,Early Phase 1
32
Fludrocortisone Approved, Investigational Phase 2,Not Applicable 127-31-1 31378
33
Norepinephrine Approved Phase 1, Phase 2,Phase 2 51-41-2 439260
34
Carbidopa Approved Phase 2,Phase 1 28860-95-9 34359 38101
35
Racepinephrine Approved Phase 2,Not Applicable 329-65-7 838
36
Morphine Approved, Investigational Phase 2 57-27-2 5288826
37
Epinephrine Approved, Vet_approved Phase 2,Not Applicable 51-43-4 5816
38 Pyridostigmine Bromide Phase 2,Phase 1 101-26-8
39 Cholinesterase Inhibitors Phase 2,Phase 1
40 Cholinergic Agents Phase 2,Phase 1,Not Applicable
41 Bromides Phase 2,Phase 1
42 Anticonvulsants Phase 2,Phase 1
43 Anti-Inflammatory Agents Phase 2,Phase 1,Not Applicable
44 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2,Phase 1
45 Atomoxetine Hydrochloride Phase 2,Phase 1
46 Mydriatics Phase 2,Phase 1,Not Applicable
47 Respiratory System Agents Phase 2,Phase 1,Not Applicable,Early Phase 1
48 Adrenergic beta-Agonists Phase 2,Phase 1,Not Applicable
49 Bronchodilator Agents Phase 2,Phase 1,Not Applicable,Early Phase 1
50 Analgesics Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 75)
# Name Status NCT ID Phase Drugs
1 A Study for Patients With Neurogenic Orthostatic Hypotension Completed NCT00046475 Phase 4 Midodrine Hydrochloride
2 Novel Approach for the Prevention of Hypoglycemia Associated Autonomic Failure (HAAF) Recruiting NCT03608163 Phase 4 Naloxone;Diazoxide;Placebo (for Naloxone);Placebo (for Diazoxide)
3 Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension Recruiting NCT02586623 Phase 4 Droxidopa capsules;Placebo capsules
4 A Phase IV Study in Subjects With Neurogenic Orthostatic Hypotension Terminated NCT00046163 Phase 4 midodrine hydrochloride (ProAmatine®)
5 A Clinical Study for Patients With Neurogenic Orthostatic Hypotension (NOH) Using Droxidopa Completed NCT00782340 Phase 3 Placebo;Droxidopa
6 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00633880 Phase 3 Placebo;Droxidopa
7 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) (Droxi-304) Completed NCT01132326 Phase 3 Droxidopa
8 Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00738062 Phase 3 Droxidopa;Placebo
9 Evaluating the Effectiveness of Intravenous Immunoglobulin Therapy in Autoimmune Autonomic Ganglionopathy Completed NCT01522235 Phase 2, Phase 3 Double blinded IVIg
10 Clinical Effect of TD-9855 for Treating snOH in Subjects With Primary Autonomic Failure Recruiting NCT03750552 Phase 3 TD-9855;Placebo
11 A Clinical Study of Patients With Symptomatic NOH to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
12 Orthostatic Dysregulation and Associated Gastrointestinal Dysfunction in Parkinson's Disease -Treatment Unknown status NCT01993680 Phase 2 Pyridostigmine bromide;fludrocortisone
13 Fipamezole in Neurogenic Orthostatic Hypotension Unknown status NCT00758849 Phase 2 Placebo;Fipamezole
14 Acetylcholinesterase Inhibition and Orthostatic Hypotension in SCI Completed NCT02307526 Phase 2 Pyridostigmine Bromide
15 Intravenous Norepinephrine for Orthostatic Hypotension Completed NCT01285908 Phase 1, Phase 2 Intravenous Norepinephrine Infusion
16 Study of Droxidopa Treatment in Adults With Attention Deficit Hyperactivity Disorder With Co-administration of Carbidopa Completed NCT00983814 Phase 2 Droxidopa+Carbidopa;Placebo
17 Norepinephrine Transporter Blockade, Autonomic Failure Recruiting NCT02796209 Phase 2 Atomexetine;Placebo
18 Mechanisms Responsible for Hypoglycemia Associated Autonomic Failure Recruiting NCT00678145 Phase 2 naloxone;Morphine sulfate;Epinephrine
19 Norepinephrine Transporter Blockade, Autonomic Failure (NETAF) Recruiting NCT02784535 Phase 2 Atomoxetine;Placebo
20 Naloxone, Hypoglycemia and Exercise Recruiting NCT03149770 Phase 2 Naloxone;Placebo
21 TD-9855 Phase 2 in Neurogenic Orthostatic Hypotension (nOH) Active, not recruiting NCT02705755 Phase 2 TD-9855;Placebo
22 A Study of Norepinephrine in Patients With Congenital Insensitivity to Pain and Anhidrosis Withdrawn NCT02624310 Phase 2 Droxidopa (L-DOPS);Placebo
23 Assessment of Hand-grip in the Prevention of Postural Orthostatic Hypotension Unknown status NCT01521221 Phase 1
24 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
25 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
26 The Autonomic Nervous System and Obesity Completed NCT00179023 Phase 1 Trimethaphan;Trimethaphan;Pseudoephedrine
27 Hemodynamic Mechanisms of Abdominal Compression in the Treatment of Orthostatic Hypotension in Autonomic Failure Recruiting NCT02429557 Phase 1 Placebo pill;midodrine
28 Effects of Midodrine and Droxidopa on Splanchnic Capacitance in Autonomic Failure Recruiting NCT02897063 Phase 1 Droxidopa;Midodrine;Placebo
29 The Role of Endothelin in the Supine Hypertension of Autonomic Failure Enrolling by invitation NCT01119417 Phase 1 BQ123;BQ123;Bq123;BQ123;Saline
30 Liver Glycogen and Hypoglycemia in Humans Not yet recruiting NCT03241706 Phase 1 Fructose;Saline;Somatostatin;Insulin;Glucagon;Dextrose solution
31 Contribution of Angiotensin II to Supine Hypertension in Autonomic Failure Terminated NCT01292694 Phase 1 Losartan;Captopril;Placebo
32 Risk Prediction in Type II Diabetics With Ischemic Heart Disease Unknown status NCT01422057
33 Physiopathological Study of Autonomic Failure in Parkinson's Disease Completed NCT01748409 Not Applicable
34 Plasma Exchange for Autoimmune Autonomic Failure Completed NCT00359346
35 Autonomic Failure Patients for RNA Blood Sampling Completed NCT00742586
36 Norepinephrine Transporter Blockade as a Pathological Biomarker in Neurogenic Orthostatic Hypotension Completed NCT01316666
37 Nebivolol in the Supine Hypertension of Autonomic Failure Completed NCT01044693 Not Applicable Placebo;Nebivolol 5 mg;metoprolol tartrate 50 mg;Sildenafil25 mg
38 Hypoglycemia Associated Autonomic Failure in Type 1 Diabetes Mellitus Completed NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo
39 Nitric Oxide and the Autonomic Nervous System Completed NCT00178919 Not Applicable L-NMMA;Trimethaphan
40 Hypoglycemia Associated Autonomic Failure in Type 1 DM Completed NCT00592670 Not Applicable Fluoxetine;Placebo
41 Hypoglycemia Associated Autonomic Failure in Type 1 DM, Q2 Completed NCT00592332 Not Applicable Alprazolam
42 Abdominal Compression in Orthostatic Hypotension Completed NCT01223391 Not Applicable
43 Study of Idiopathic Edema Completed NCT01681927
44 Hypoglycemia in Hospitalized Patients Completed NCT02228642
45 Testing Glial Pathways to HAAF in Human Subjects Using Carbon 13 Magnetic Resonance Spectroscopy Completed NCT02690168
46 Posture Detection for Automated Abdominal Binder Completed NCT02280369
47 UTLight-transcranial Doppler Assessment of Regional Cerebral Autoregulation Completed NCT02178787
48 PET Imaging Study of Neurochemical and Autonomic Disorders in Multiple System Atrophy (MSA) Completed NCT02035761
49 Risk Prediction in Aortic Stenosis Completed NCT01422044
50 Importance of Liver Innervation for the Osmopressor Response in Humans Completed NCT01237431 Not Applicable

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:

41
Brain, Spinal Cord, Heart, Skin, Testes, Kidney, Liver

Publications for Pure Autonomic Failure

Articles related to Pure Autonomic Failure:

(show top 50) (show all 163)
# 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: Predictors of conversion to clinical CNS involvement. ( 28202694 )
2017
4
Pure autonomic failure without synucleinopathy. ( 28188385 )
2017
5
Very late-onset pure autonomic failure. ( 28436596 )
2017
6
Pure autonomic failure. ( 28717053 )
2017
7
Natural history of pure autonomic failure: A United States prospective cohort. ( 28093795 )
2017
8
Letter on "Natural history of pure autonomic failure: A United States prospective cohort". ( 28472851 )
2017
9
Reply to "Pure autonomic failure vs. Manifest CNS synucleinopathy: Relevance of stridor and autonomic biomarkers". ( 28472861 )
2017
10
Is pure autonomic failure a distinct nosologic entity? ( 28303413 )
2017
11
Pure autonomic failure without alpha-synuclein pathology: an evolving understanding of a heterogeneous disease. ( 28236005 )
2017
12
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
13
Managing neurogenic orthostatic hypotension in a patient presenting with pure autonomic failure who later developed Parkinson disease. ( 28699048 )
2017
14
Pure autonomic failure versus prodromal dysautonomia in Parkinsona89s disease: Insights from the bedside. ( 28164144 )
2017
15
Erratum to: Managing neurogenic orthostatic hypotension in a patient presenting with pure autonomic failure who later developed Parkinson disease. ( 28889358 )
2017
16
Skin nerve misfolded I+-synuclein in pure autonomic failure and Parkinson disease. ( 26606657 )
2016
17
Pure Autonomic Failure. ( 27338613 )
2016
18
A case series of REM sleep behavior disorder in pure autonomic failure. ( 27757562 )
2016
19
Successful long-term ambulatory norepinephrine infusions in a patient with pure autonomic failure. ( 26138858 )
2015
20
Alpha-synuclein accumulation in a patient with Auerbach's plexus of pure autonomic failure. ( 25274243 )
2014
21
Skin sympathetic fiber I+-synuclein deposits: A potential biomarker for pure autonomic failure. ( 24379100 )
2014
22
Antemortem detection of colonic I+-synuclein pathology in a patient with pure autonomic failure. ( 25319021 )
2014
23
Incidence of cerebrovascular lesions in pure autonomic failure. ( 23706609 )
2013
24
Pure autonomic failure. ( 24095130 )
2013
25
Pure autonomic failure with cold induced sweating. ( 23511064 )
2013
26
Skin sympathetic fiber α-synuclein deposits: a potential biomarker for pure autonomic failure. ( 23390175 )
2013
27
α-Synuclein in the skin nerve of pure autonomic failure. ( 22186004 )
2011
28
Autonomic innervation in multiple system atrophy and pure autonomic failure. ( 20660924 )
2010
29
alpha-synuclein accumulation in skin nerve fibers revealed by skin biopsy in pure autonomic failure. ( 20157164 )
2010
30
Pure autonomic failure: a restricted Lewy body synucleinopathy or early Parkinson disease? ( 20157156 )
2010
31
Differences in skin sympathetic involvements between two chronic autonomic disorders: multiple system atrophy and pure autonomic failure. ( 18805037 )
2009
32
Reduced perfusion in the anterior cingulate cortex of patients with pure autonomic failure: an 123I-IMP SPECT study. ( 19684240 )
2009
33
Hyposmia in pure autonomic failure. ( 19433741 )
2009
34
Exercise-induced hypertension in pure autonomic failure. ( 19538201 )
2009
35
Olfactory dysfunction in pure autonomic failure: Implications for the pathogenesis of Lewy body diseases. ( 19201246 )
2009
36
Renal impairment of pure autonomic failure. ( 19738158 )
2009
37
Frequent nocturnal vocalization in pure autonomic failure. ( 18534130 )
2008
38
Effects of water drinking on cardiovascular responses to supine exercise and on orthostatic hypotension after exercise in pure autonomic failure. ( 18469030 )
2008
39
Central dopamine deficiency in pure autonomic failure. ( 18363034 )
2008
40
Pure autonomic failure followed by amyotrophy. ( 17339594 )
2007
41
REM sleep behavioral disorder in pure autonomic failure (PAF). ( 16505328 )
2006
42
Hemodynamic effects of clonidine in two contrasting models of autonomic failure: multiple system atrophy and pure autonomic failure. ( 16404729 )
2006
43
Chronic intestinal pseudo-obstruction as the initial feature of pure autonomic failure. ( 16705209 )
2006
44
Stress induced hypotension in pure autonomic failure. ( 16354738 )
2006
45
Cevimeline hydrochloride improved cholinergic dysfunction in a patient with pure autonomic failure. ( 15995794 )
2006
46
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
47
Cognitive functioning in orthostatic hypotension due to pure autonomic failure. ( 16683070 )
2006
48
Skin vasomotor reflex responses in two contrasting groups of autonomic failure: multiple system atrophy and pure autonomic failure. ( 16845569 )
2006
49
Pure autonomic failure with altered dopamine transporter imaging. ( 16606777 )
2006
50
Cerebral vasomotor reactivity in Parkinson's disease, multiple system atrophy and pure autonomic failure. ( 16438986 )
2006

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 DDC GNB3 MAOA MAOB NPPA SNCA
2
Show member pathways
12.87 ACHE DDC GNB3 MAOA MAOB TH
3 12.41 DBH DDC GNB3 SNCA TH
4
Show member pathways
12.1 ACE ACHE GNB3 REN
5
Show member pathways
12.02 DDC MAOA MAOB
6 12.02 DDC GNB3 MAOA TH
7
Show member pathways
11.8 DDC MAOA MAOB TH
8 11.77 DDC GNB3 MAOA MAOB
9 11.65 DDC SNCA TH
10 11.63 DBH DDC MAOA TH
11
Show member pathways
11.44 DBH DDC MAOA MAOB TH
12
Show member pathways
11.27 DBH DDC TH
13
Show member pathways
11.19 ACHE DBH MAOA TH
14 11.14 MAOB SNCA TH
15 11.08 DDC TH
16 11.04 DDC MAOA
17
Show member pathways
11 ACHE MAOA
18
Show member pathways
10.74 MAOA MAOB
19
Show member pathways
10.67 MAOA MAOB
20 10.58 ACHE DDC TH
21 10.4 DDC MAOA MAOB TH
22
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 27)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.98 DBH MAOA MAOB SNCA TH
2 response to drug GO:0042493 9.86 MAOB REN SNCA TH
3 response to hypoxia GO:0001666 9.81 EPO NPPA TH
4 response to lipopolysaccharide GO:0032496 9.72 EPO MAOB REN SNCA TH
5 cellular response to drug GO:0035690 9.69 DDC REN TH
6 regulation of blood pressure GO:0008217 9.67 ACE GNB3 NPPA REN
7 response to electrical stimulus GO:0051602 9.63 EPO TH
8 positive regulation of endocytosis GO:0045807 9.62 NEDD4L SNCA
9 response to immobilization stress GO:0035902 9.62 REN TH
10 response to corticosterone GO:0051412 9.61 MAOB TH
11 response to metal ion GO:0010038 9.61 NEDD4L TH
12 multicellular organism aging GO:0010259 9.6 DDC TH
13 synaptic transmission, dopaminergic GO:0001963 9.59 SNCA TH
14 amyloid-beta metabolic process GO:0050435 9.58 ACE REN
15 neurotransmitter biosynthetic process GO:0042136 9.57 ACHE TH
16 angiotensin maturation GO:0002003 9.55 ACE REN
17 cellular response to alkaloid GO:0071312 9.54 DDC TH
18 response to salt stress GO:0009651 9.52 EPO TH
19 norepinephrine biosynthetic process GO:0042421 9.49 DBH TH
20 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.48 DDC TH
21 response to pyrethroid GO:0046684 9.46 DDC TH
22 isoquinoline alkaloid metabolic process GO:0033076 9.43 DDC TH
23 dopamine biosynthetic process GO:0042416 9.43 DDC SNCA TH
24 phytoalexin metabolic process GO:0052314 9.4 DDC TH
25 neurotransmitter catabolic process GO:0042135 9.33 ACHE MAOA MAOB
26 dopamine catabolic process GO:0042420 9.13 DBH MAOA MAOB
27 catecholamine biosynthetic process GO:0042423 8.8 DBH DDC 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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38 LifeMap
40 LOVD
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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