PAF
MCID: PRT058
MIFTS: 55

Pure Autonomic Failure (PAF) malady

Rare diseases, Cardiovascular diseases, Neuronal diseases categories
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Summaries for Pure Autonomic Failure

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NINDS:43 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 bradbury-eggleston syndrome, is related to multiple system atrophy and autonomic neuropathy. An important gene associated with Pure Autonomic Failure is SNCA (synuclein, alpha (non A4 component of amyloid precursor)), and among its related pathways are Parkinsons Disease Pathway and Alpha-synuclein signaling. The compounds 1 methyl 4 phenylpyridinium and selegiline have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and spinal cord, and related mouse phenotypes are integument and endocrine/exocrine gland.

NIH Rare Diseases:42 Pure autonomic failure is characterized by generalized autonomic failure without involving the brain or spinal cord (central nervous system). 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, in ability to empty the bladder, erectile dysfunction, incontinence or constipation, and pupil changes. the cause of this condition is unknown. last updated: 2/26/2009

Wikipedia:65 Pure autonomic failure, also known as Bradbury-Eggleston syndrome or idiopathic orthostatic hypotension,... more...

Aliases & Classifications for Pure Autonomic Failure

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Sources:
42NIH Rare Diseases, 43NINDS, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Pure Autonomic Failure, Aliases & Descriptions:

Name: Pure Autonomic Failure 42 44 48 62
Bradbury-Eggleston Syndrome 42 43 48 62
Idiopathic Orthostatic Hypotension 42 48 62
Orthostatic Hypotension 42 43
Autonomic Nervous System Disorders 62
Pure Idiopatic Dysautonomia 48
 
Bradbury Eggleston Syndrome 42
Hypotension Adverse Event 62
Hypotension Orthostatic 44
Pure Dysautonomia 48
Paf 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Cardiovascular diseases, Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
bradbury-eggleston syndrome:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Elderly


External Ids:

MESH via Orphanet35 C544351, D054970
ICD10 via Orphanet26 G90.3
UMLS via Orphanet63 C0393911, C2931939
ICD1025 I95.1

Related Diseases for Pure Autonomic Failure

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

(show top 50)    (show all 148)
idRelated DiseaseScoreTop Affiliating Genes
1multiple system atrophy31.2TH, DBH, SNCA
2autonomic neuropathy30.9REN, DBH
3parkinson's disease30.8SNCA, DBH, TH
4dysautonomia30.5SNCA, DBH
5amyloidosis30.4SNCA, DBH
6dementia30.3SNCA, TH
7congestive heart failure30.1REN, DBH
8hypertension29.9REN, DBH, TH
9multiple system atrophy with orthostatic hypotension10.8
10neuropathy10.6
11syncope10.5
12endotheliitis10.5
13postural hypotension10.5
14pernicious anemia10.5
15spinal cord injury10.4
16quadriplegia10.4
17diabetic autonomic neuropathy10.4
18adie syndrome10.4
19dopamine beta-hydroxylase deficiency10.4
20orthostatic intolerance10.4
21asthma10.3
22cerebritis10.3
23synucleinopathy10.3
24autonomic dysfunction10.3
25pleurisy10.3
26transthyretin amyloidosis10.3
27anhidrosis10.3
28hemangioblastoma10.3
29impotence10.3
30vitamin b12 deficiency10.3
31orthostatic hypotensive disorder of streeten10.3
32artery disease10.2
33progressive supranuclear palsy10.2SNCA, TH
34lewy body dementia10.2SNCA, TH
35diabetes mellitus10.2
36motor neuron disease10.2
37rem sleep behavior disorder10.2
38neuronitis10.2
39riley-day syndrome10.2
40intestinal pseudo-obstruction10.2
41polyneuropathy10.2
42baroreflex failure10.2
43ganglioglioma10.2SNCA, TH
44ganglioneuroma10.2SNCA, TH
45atherosclerosis10.2
46carotid artery occlusion10.2
47sepsis10.2
48movement disease10.2TH, SNCA
49amyotrophic lateral sclerosis10.2
50diabetic retinopathy10.2

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



Diseases related to pure autonomic failure

Symptoms for Pure Autonomic Failure

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Drugs & Therapeutics for Pure Autonomic Failure

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Drug clinical trials:

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Search NIH Clinical Center for Pure Autonomic Failure

Genetic Tests for Pure Autonomic Failure

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Anatomical Context for Pure Autonomic Failure

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MalaCards organs/tissues related to Pure Autonomic Failure:

32
Heart, Brain, Spinal cord, Skin, Cortex, Colon, Cingulate cortex

Animal Models for Pure Autonomic Failure or affiliated genes

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MGI Mouse Phenotypes related to Pure Autonomic Failure:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8SNCA, DBH, TH
2MP:00053798.5SNCA, DBH, TH
3MP:00053858.2SNCA, REN, DBH, TH
4MP:00053868.1TH, DBH, REN, SNCA
5MP:00036318.1SNCA, REN, DBH, TH
6MP:00053788.1TH, DBH, REN, SNCA
7MP:00053768.0SNCA, REN, DBH, TH
8MP:00107687.9TH, DBH, REN, SNCA

Publications for Pure Autonomic Failure

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Articles related to Pure Autonomic Failure:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
Skin sympathetic fiber I+-synuclein deposits: A potential biomarker for pure autonomic failure. (24379100)
2014
2
Alpha-synuclein accumulation in a patient with Auerbach's plexus of pure autonomic failure. (25274243)
2014
3
Antemortem detection of colonic I+-synuclein pathology in a patient with pure autonomic failure. (25319021)
2014
4
Pure autonomic failure. (24095130)
2013
5
Skin sympathetic fiber I+-synuclein deposits: a potential biomarker for pure autonomic failure. (23390175)
2013
6
Incidence of cerebrovascular lesions in pure autonomic failure. (23706609)
2013
7
Olfactory dysfunction in pure autonomic failure: Implications for the pathogenesis of Lewy body diseases. (19201246)
2009
8
Differences in skin sympathetic involvements between two chronic autonomic disorders: multiple system atrophy and pure autonomic failure. (18805037)
2009
9
Exercise-induced hypertension in pure autonomic failure. (19538201)
2009
10
Renal impairment of pure autonomic failure. (19738158)
2009
11
Hyposmia in pure autonomic failure. (19433741)
2009
12
Frequent nocturnal vocalization in pure autonomic failure. (18534130)
2008
13
Effects of water drinking on cardiovascular responses to supine exercise and on orthostatic hypotension after exercise in pure autonomic failure. (18469030)
2008
14
Pure autonomic failure followed by amyotrophy. (17339594)
2007
15
REM sleep behavioral disorder in pure autonomic failure (PAF). (16505328)
2006
16
Stress induced hypotension in pure autonomic failure. (16354738)
2006
17
Cognitive functioning in orthostatic hypotension due to pure autonomic failure. (16683070)
2006
18
Skin vasomotor reflex responses in two contrasting groups of autonomic failure: multiple system atrophy and pure autonomic failure. (16845569)
2006
19
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
20
Pure autonomic failure with altered dopamine transporter imaging. (16606777)
2006
21
Rate of change in cerebral oxygenation and blood pressure in response to passive changes in posture: a comparison between pure autonomic failure patients and controls. (16594152)
2005
22
Cardiac and extracardiac sympathetic denervation in Parkinson's disease with orthostatic hypotension and in pure autonomic failure. (16269589)
2005
23
Differences in overshoot of blood pressure after head-up tilt in two groups with chronic autonomic failure: pure autonomic failure and multiple system atrophy. (15654557)
2005
24
The effects of water ingestion on orthostatic hypotension in two groups of chronic autonomic failure: multiple system atrophy and pure autonomic failure. (15548493)
2004
25
Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy. (12833405)
2003
26
Effect of posture on blood and intraocular pressures in multiple system atrophy, pure autonomic failure, and baroreflex failure. (14597588)
2003
27
Sympathetic cardiac denervation in Parkinson's disease and pure autonomic failure but not in multiple system atrophy. (12438492)
2002
28
Haemodynamic responses during head-up tilt and tilt reversal in two groups with chronic autonomic failure: pure autonomic failure and multiple system atrophy. (12021943)
2002
29
Accumulation of alpha-synuclein in autonomic nerves in pure autonomic failure. (11294945)
2001
30
The cardiovascular effects of metoclopramide in multiple system atrophy and pure autonomic failure. (11605821)
2001
31
L-threo-dihydroxyphenylserine (L-threo-DOPS; droxidopa) in the management of neurogenic orthostatic hypotension: a multi-national, multi-center, dose-ranging study in multiple system atrophy and pure autonomic failure. (11710796)
2001
32
Pure autonomic failure in association with human alpha-synucleinopathy. (11109008)
2000
33
Hormonal and cardiovascular reflex assessment in a female patient with pure autonomic failure. (11018809)
2000
34
Symptoms associated with orthostatic hypotension in pure autonomic failure and multiple system atrophy. (10552235)
1999
35
Separating the primary autonomic failure syndromes, multiple system atrophy, and pure autonomic failure from Parkinson's disease. (10410741)
1999
36
REM sleep behaviour disorder differentiates pure autonomic failure from multiple system atrophy with autonomic failure. (9598693)
1998
37
Differing haemodynamic and catecholamine responses to exercise in three groups with peripheralautonomic dysfunction: insulin-dependent diabetes mellitus, familial amyloid polyneuropathy and pure autonomic failure. (9862387)
1998
38
Consensus statement on the definition of orthostatic hypotension, pure autonomic failure, and multiple system atrophy. The Consensus Committee of the American Autonomic Society and the American Academy of Neurology. (8628505)
1996
39
Consensus statement on the definition of orthostatic hypotension, pure autonomic failure and multiple system atrophy. (8726100)
1996
40
Pure autonomic failure with motor neuron disease: report of a clinical study and postmortem examination of a patient. (8609525)
1996
41
Neurohumoral, peptidergic and biochemical responses to supine exercise in two groups with primary autonomic failure: Shy-Drager syndrome/multiple system atrophy and pure autonomic failure. (8899251)
1996
42
Consensus statement on the definition of orthostatic hypotension, pure autonomic failure, and multiple system atrophy. (8994128)
1996
43
Pure Autonomic Failure: complex abnormalities in the neural mechanisms regulating the cardiovascular system. (7769156)
1995
44
Beta-adrenoceptor modulation in a case of pure autonomic failure. (1314125)
1992
45
Hypotension-induced vasopressin release distinguishes between pure autonomic failure and multiple system atrophy with autonomic failure. (1549219)
1992
46
Biochemical evidence of sympathetic denervation of the heart in pure autonomic failure. (1822251)
1991
47
Computed tomography, magnetic resonance imaging and positron emission tomography with [18F]fluorodeoxyglucose in multiple system atrophy and pure autonomic failure. (1821662)
1991
48
Differential effect of L-threo-3,4-dihydroxyphenylserine in pure autonomic failure and multiple system atrophy with autonomic failure. (1910486)
1991
49
Multisystem evaluation in one case of pure autonomic failure. (1743542)
1991
50
The relationship between locomotor disability, autonomic dysfunction, and the integrity of the striatal dopaminergic system in patients with multiple system atrophy, pure autonomic failure, and Parkinson's disease, studied with PET. (2123119)
1990

Variations for Pure Autonomic Failure

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Expression for genes affiliated with Pure Autonomic Failure

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Expression patterns in normal tissues for genes affiliated with Pure Autonomic Failure

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

Pathways for genes affiliated with Pure Autonomic Failure

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Pathways related to Pure Autonomic Failure according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4SNCA, TH
29.4TH, SNCA
3
Show member pathways
phenylalanine utilization37
noradrenaline and adrenaline degradation37
phenylalanine degradation IV37
9.3DBH, TH
4
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
9.3DBH, TH
5
Show member pathways
catecholamine biosynthesis37
9.3DBH, TH
6
Show member pathways
Serotonin Transporter Activity37
9.3DBH, TH
79.3DBH, TH
88.8SNCA, DBH, TH

Compounds for genes affiliated with Pure Autonomic Failure

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Compounds related to Pure Autonomic Failure according to GeneCards/GeneDecks:

(show top 50)    (show all 70)
idCompoundScoreTop Affiliating Genes
11 methyl 4 phenylpyridinium449.8SNCA, TH
2selegiline44 1110.8SNCA, TH
3alpha-methyl-p-tyrosine449.8DBH, TH
4apomorphine28 44 1111.8SNCA, TH
5l-dops449.8DBH, TH
6atrazine449.8DBH, TH
7octopamine44 2810.7TH, DBH
8carbidopa44 2810.7DBH, TH
9dopac449.7TH, DBH
10rotenone449.7SNCA, TH
11mhpg449.7DBH, TH
12maoa449.7DBH, TH
13methamphetamine44 50 1111.7SNCA, TH
14homovanillic acid44 2410.7TH, DBH
15tyramine44 28 2411.7TH, DBH
16amphetamine44 50 1111.7TH, SNCA
17l-amino acid449.7TH, DBH
18tetrahydrobiopterin44 24 1111.7DBH, TH
19doxycycline44 1110.7SNCA, TH
20methanol44 2410.6DBH, SNCA
21atropine44 28 1111.6TH, SNCA
22glycyrrhizin44 2810.5REN, TH
23ganciclovir44 1110.5DBH, TH
24opiate449.5DBH, TH
25metoclopramide44 50 1111.4REN, DBH
26halothane44 50 28 1112.3DBH, REN
27clonidine44 50 28 1112.3REN, DBH
286-hydroxydopamine449.3SNCA, DBH, TH
29mptp449.3TH, DBH, SNCA
30levodopa44 1110.2SNCA, DBH, TH
31cocaine44 1110.2TH, DBH, SNCA
32choline44 24 1111.2SNCA, DBH, TH
33acetylcholine44 50 28 24 1113.2SNCA, DBH, TH
34iron44 2410.2SNCA, DBH, TH
35adenylate449.1SNCA, DBH, TH
36propranolol44 28 50 24 1113.1REN, DBH
37h2o2449.1TH, DBH, SNCA
38lithium44 50 24 1112.0REN, DBH
39vanillylmandelic acid44 2410.0REN, DBH, TH
40corticosterone44 61 2410.9TH, DBH, REN
41epinephrine44 24 1110.9REN, DBH, TH
42forskolin44 50 1110.9REN, DBH, TH
43pge2448.8DBH, REN, SNCA
44alanine448.8SNCA, DBH, TH
45dexamethasone44 50 28 1111.6TH, DBH, REN
46glutamate448.5SNCA, DBH, TH
47catecholamine448.4SNCA, REN, DBH, TH
48norepinephrine44 24 1110.4TH, DBH, REN, SNCA
49dopamine44 28 24 1111.4SNCA, REN, DBH, TH
50nitric oxide44 24 1110.4DBH, REN, SNCA

GO Terms for genes affiliated with Pure Autonomic Failure

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Cellular components related to Pure Autonomic Failure according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1terminal boutonGO:0431959.3SNCA, TH
2synaptic vesicleGO:0080219.1SNCA, TH
3extracellular regionGO:0055768.5SNCA, REN, DBH

Biological processes related to Pure Autonomic Failure according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1dopamine biosynthetic processGO:0424169.6SNCA, TH
2norepinephrine biosynthetic processGO:0424219.6DBH, TH
3catecholamine biosynthetic processGO:0424239.5TH, DBH
4response to amphetamineGO:0019759.4TH, DBH
5fatty acid metabolic processGO:0066319.3TH, SNCA
6memoryGO:0076139.3DBH, TH
7cellular nitrogen compound metabolic processGO:0346419.3DBH, TH
8cellular response to drugGO:0356909.2REN, TH
9locomotory behaviorGO:0076269.0DBH, TH
10response to lipopolysaccharideGO:0324968.8SNCA, REN, TH

Molecular functions related to Pure Autonomic Failure according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein domain specific bindingGO:0199049.4SNCA, TH
2ferrous iron bindingGO:0081989.3SNCA, TH
3copper ion bindingGO:0055079.0SNCA, DBH

Products for genes affiliated with Pure Autonomic Failure

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Sources for Pure Autonomic Failure

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet