PAF
MCID: PRT058
MIFTS: 54

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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Sources:
43NIH Rare Diseases, 44NINDS, 65Wikipedia, 33MalaCards
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NINDS:44 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: Pure Autonomic Failure, also known as idiopathic orthostatic hypotension, 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:43 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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43NIH Rare Diseases, 45Novoseek, 49Orphanet, 62UMLS, 44NINDS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
pure autonomic failure:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

pure autonomic failure 43 45 49 62
idiopathic orthostatic hypotension 43 49 62
bradbury-eggleston syndrome 43 44 49
orthostatic hypotension 43 44
autonomic nervous system disorders 62
pure idiopatic dysautonomia 49
bradbury eggleston syndrome 43
hypotension adverse event 62
hypotension orthostatic 45
pure dysautonomia 49
paf 49


External Ids:

MESH via Orphanet36 C544351, D054970
ICD10 via Orphanet26 G90.3
SNOMED-CT via Orphanet59 84438001
UMLS via Orphanet63 C0393911, C2931939
ICD1025 I95.1

Related Diseases for Pure Autonomic Failure

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Sources:
17GeneCards, 18GeneDecks
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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 146)
idRelated DiseaseScoreTop Affiliating Genes
1multiple system atrophy31.3TH, DBH, SNCA
2autonomic neuropathy30.8REN, DBH
3parkinson's disease30.8SNCA, DBH, TH
4dysautonomia30.3SNCA, DBH
5dementia30.2SNCA, TH
6amyloidosis30.2SNCA, DBH
7amyotrophic lateral sclerosis30.2TH, SNCA
8congestive heart failure30.2REN, DBH
9hypertension30.2REN, DBH, TH
10multiple system atrophy with orthostatic hypotension10.7
11neuropathy10.6
12syncope10.5
13endotheliitis10.5
14pernicious anemia10.4
15diabetic autonomic neuropathy10.4
16adie syndrome10.4
17quadriplegia10.4
18dopamine beta-hydroxylase deficiency10.4
19spinal cord injury10.4
20orthostatic intolerance10.4
21orthostatic hypotensive disorder of streeten10.4
22asthma10.3
23cerebritis10.3
24autonomic dysfunction10.3
25pleurisy10.3
26anhidrosis10.3
27transthyretin amyloidosis10.3
28hemangioblastoma10.3
29impotence10.3
30vitamin b12 deficiency10.3
31coronary artery disease10.2
32artery disease10.2
33neuronitis10.2
34riley-day syndrome10.2
35rem sleep behavior disorder10.2
36diabetes mellitus10.2
37intestinal pseudo-obstruction10.2
38motor neuron disease10.2
39polyneuropathy10.2
40baroreflex failure10.2
41postural hypotension10.2
42carotid artery occlusion10.1
43atherosclerosis10.1
44lateral sclerosis10.1
45gangliocytoma10.1
46hypoparathyroidism10.1
47cushing's syndrome10.1
48aseptic meningitis10.1
49intracranial hypotension10.1
50paraganglioma10.1

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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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Pure Autonomic Failure

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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33MalaCards
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MalaCards organs/tissues related to Pure Autonomic Failure:

33
Heart, Brain, Spinal cord, Skin, Cortex, Cingulate cortex

Animal Models for Pure Autonomic Failure or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Pure Autonomic Failure:

37
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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Sources:
52PubMed
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Articles related to Pure Autonomic Failure:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Skin sympathetic fiber I+-synuclein deposits: A potential biomarker for pure autonomic failure. (24379100)
2014
2
Pure autonomic failure. (24095130)
2013
3
Skin sympathetic fiber I+-synuclein deposits: a potential biomarker for pure autonomic failure. (23390175)
2013
4
Incidence of cerebrovascular lesions in pure autonomic failure. (23706609)
2013
5
Olfactory dysfunction in pure autonomic failure: Implications for the pathogenesis of Lewy body diseases. (19201246)
2009
6
Differences in skin sympathetic involvements between two chronic autonomic disorders: multiple system atrophy and pure autonomic failure. (18805037)
2009
7
Exercise-induced hypertension in pure autonomic failure. (19538201)
2009
8
Renal impairment of pure autonomic failure. (19738158)
2009
9
Hyposmia in pure autonomic failure. (19433741)
2009
10
Frequent nocturnal vocalization in pure autonomic failure. (18534130)
2008
11
Effects of water drinking on cardiovascular responses to supine exercise and on orthostatic hypotension after exercise in pure autonomic failure. (18469030)
2008
12
Pure autonomic failure followed by amyotrophy. (17339594)
2007
13
REM sleep behavioral disorder in pure autonomic failure (PAF). (16505328)
2006
14
Stress induced hypotension in pure autonomic failure. (16354738)
2006
15
Cognitive functioning in orthostatic hypotension due to pure autonomic failure. (16683070)
2006
16
Skin vasomotor reflex responses in two contrasting groups of autonomic failure: multiple system atrophy and pure autonomic failure. (16845569)
2006
17
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
18
Pure autonomic failure with altered dopamine transporter imaging. (16606777)
2006
19
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
20
Cardiac and extracardiac sympathetic denervation in Parkinson's disease with orthostatic hypotension and in pure autonomic failure. (16269589)
2005
21
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
22
The effects of water ingestion on orthostatic hypotension in two groups of chronic autonomic failure: multiple system atrophy and pure autonomic failure. (15548493)
2004
23
Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy. (12833405)
2003
24
Effect of posture on blood and intraocular pressures in multiple system atrophy, pure autonomic failure, and baroreflex failure. (14597588)
2003
25
Sympathetic cardiac denervation in Parkinson's disease and pure autonomic failure but not in multiple system atrophy. (12438492)
2002
26
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
27
Accumulation of alpha-synuclein in autonomic nerves in pure autonomic failure. (11294945)
2001
28
The cardiovascular effects of metoclopramide in multiple system atrophy and pure autonomic failure. (11605821)
2001
29
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
30
Pure autonomic failure in association with human alpha-synucleinopathy. (11109008)
2000
31
Hormonal and cardiovascular reflex assessment in a female patient with pure autonomic failure. (11018809)
2000
32
Symptoms associated with orthostatic hypotension in pure autonomic failure and multiple system atrophy. (10552235)
1999
33
Separating the primary autonomic failure syndromes, multiple system atrophy, and pure autonomic failure from Parkinson's disease. (10410741)
1999
34
REM sleep behaviour disorder differentiates pure autonomic failure from multiple system atrophy with autonomic failure. (9598693)
1998
35
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
36
Identification of a renin threshold and its relationship to salt intake in a patient with pure autonomic failure. (9369257)
1997
37
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
38
Consensus statement on the definition of orthostatic hypotension, pure autonomic failure and multiple system atrophy. (8726100)
1996
39
Pure autonomic failure with motor neuron disease: report of a clinical study and postmortem examination of a patient. (8609525)
1996
40
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
41
Consensus statement on the definition of orthostatic hypotension, pure autonomic failure, and multiple system atrophy. (8994128)
1996
42
Pure Autonomic Failure: complex abnormalities in the neural mechanisms regulating the cardiovascular system. (7769156)
1995
43
Effects of ibopamine on postural hypotension in pure autonomic failure. (7687709)
1993
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
50PathCards, 38NCBI BioSystems Database, 30KEGG, 55Reactome, 60Thomson Reuters, 5Cell Signaling Technology
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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
29.4SNCA, TH
3
Show member pathways
phenylalanine utilization38
noradrenaline and adrenaline degradation38
phenylalanine degradation IV38
9.3TH, DBH
4
Show member pathways
catecholamine biosynthesis38
9.3TH, DBH
5
Show member pathways
Serotonin Transporter Activity38
9.3TH, DBH
69.3TH, DBH
7
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.3DBH, TH
88.8SNCA, DBH, TH

Compounds for genes affiliated with Pure Autonomic Failure

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Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 51PharmGKB, 24HMDB, 61Tocris Bioscience
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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 phenylpyridinium459.8TH, SNCA
2selegiline45 1110.8TH, SNCA
3alpha-methyl-p-tyrosine459.8DBH, TH
4apomorphine29 45 1111.8TH, SNCA
5l-dops459.8TH, DBH
6atrazine459.8TH, DBH
7octopamine45 2910.7TH, DBH
8carbidopa45 2910.7TH, DBH
9dopac459.7TH, DBH
10rotenone459.7SNCA, TH
11mhpg459.7TH, DBH
12maoa459.7DBH, TH
13methamphetamine45 51 1111.7TH, SNCA
14homovanillic acid45 2410.7TH, DBH
15tyramine45 29 2411.7TH, DBH
16amphetamine45 51 1111.7TH, SNCA
17l-amino acid459.7TH, DBH
18tetrahydrobiopterin45 24 1111.7TH, DBH
19doxycycline45 1110.7SNCA, TH
20methanol45 2410.6DBH, SNCA
21atropine45 29 1111.6TH, SNCA
22glycyrrhizin45 2910.5TH, REN
23ganciclovir45 1110.5TH, DBH
24opiate459.5DBH, TH
25metoclopramide45 51 1111.4REN, DBH
26halothane45 51 29 1112.3REN, DBH
27clonidine45 51 29 1112.3REN, DBH
286-hydroxydopamine459.3TH, DBH, SNCA
29mptp459.3DBH, SNCA, TH
30levodopa45 1110.2TH, DBH, SNCA
31cocaine45 1110.2TH, DBH, SNCA
32choline45 24 1111.2SNCA, TH, DBH
33acetylcholine45 51 29 24 1113.2SNCA, TH, DBH
34iron45 2410.2DBH, TH, SNCA
35adenylate459.1SNCA, DBH, TH
36propranolol45 29 51 24 1113.1REN, DBH
37h2o2459.1SNCA, DBH, TH
38lithium45 51 24 1112.0REN, DBH
39vanillylmandelic acid45 2410.0DBH, REN, TH
40corticosterone45 61 2410.9TH, DBH, REN
41epinephrine45 24 1110.9REN, DBH, TH
42forskolin45 51 1110.9REN, DBH, TH
43pge2458.8SNCA, DBH, REN
44alanine458.8DBH, TH, SNCA
45dexamethasone45 51 29 1111.6TH, REN, DBH
46glutamate458.5SNCA, DBH, TH
47catecholamine458.4TH, DBH, REN, SNCA
48norepinephrine45 24 1110.4TH, REN, SNCA, DBH
49dopamine45 29 24 1111.4REN, SNCA, DBH, TH
50nitric oxide45 24 1110.4DBH, REN, SNCA

GO Terms for genes affiliated with Pure Autonomic Failure

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16Gene Ontology
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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet