PAF
MCID: PRT058
MIFTS: 48

Pure Autonomic Failure (PAF) malady

Cardiovascular, Neuronal categories

Summaries for Pure Autonomic Failure

Sources:
43NIH Rare Diseases, 44NINDS, 64Wikipedia, 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 parkinson's disease 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 Alpha-synuclein signaling and Parkinsons Disease Pathway. The compounds atropine and 1 methyl 4 phenylpyridinium have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and brain, and related mouse phenotypes are cardiovascular system and behavior/neurological.

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

Aliases & Classifications for Pure Autonomic Failure

Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 61UMLS, 44NINDS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


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 61
idiopathic orthostatic hypotension 43 49 61
bradbury-eggleston syndrome 43 44 49
orthostatic hypotension 43 44
autonomic nervous system disorders 61
pure idiopatic dysautonomia 49
bradbury eggleston syndrome 43
hypotension adverse event 61
hypotension orthostatic 45
pure dysautonomia 49
paf 49


External Ids:

MESH via Orphanet36 C544351, D054970
ICD10 via Orphanet26 G90.3
SNOMED-CT via Orphanet58 84438001
UMLS via Orphanet62 C0393911, C2931939
ICD1025 I95.1

Related Diseases for Pure Autonomic Failure

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson's disease30.8DBH, TH, SNCA
2autonomic neuropathy30.8REN, DBH
3dysautonomia30.2DBH, SNCA
4paraganglioma30.2TH
5multiple system atrophy with orthostatic hypotension10.7
6autonomic nervous system disease10.6
7syncope10.5
8autonomic dysfunction10.5
9pernicious anemia10.4
10diabetic autonomic neuropathy10.4
11quadriplegia10.4
12adie syndrome10.4
13dopamine beta-hydroxylase deficiency10.4
14spinal cord injury10.4
15orthostatic intolerance10.4
16orthostatic hypotensive disorder of streeten10.4
17asthma10.3
18skin atrophy10.3
19sleep disorder10.3
20anhidrosis10.3
21transthyretin amyloidosis10.3
22coronary artery disease,10.2
23reflex sympathetic dystrophy10.2
24burning mouth syndrome10.2
25horner's syndrome10.2
26char syndrome10.2
27dysautonomia like disorder10.2
28carotid artery occlusion10.2
29atherosclerosis10.2
30platelet-activating factor acetylhydrolase deficiency10.2
31sepsis10.2
32n syndrome10.1
33riley-day syndrome10.1
34baroreflex failure10.1
35cerebral atrophy10.1
36postural hypotension10.1
37parkinson disease 110.1
38parkinson disease 1210.1
39chronic intestinal failure10.1
40lateral sclerosis10.1
41hypoparathyroidism10.1
42cushing's syndrome10.1
43aseptic meningitis10.1
44intracranial hypotension10.1
45gangliocytoma10.1
46sick sinus syndrome10.1
47hepatitis a10.1
48amyloidosis10.1
49amyotrophic lateral sclerosis10.1
50brain glioma10.1

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



Diseases related to pure autonomic failure

Clinical Features for Pure Autonomic Failure

Drugs & Therapeutics for Pure Autonomic Failure

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Pure Autonomic Failure

Drug clinical trials:

Search ClinicalTrials for Pure Autonomic Failure

Search NIH Clinical Center for Pure Autonomic Failure

Search CenterWatch for Pure Autonomic Failure

Genetic Tests for Pure Autonomic Failure

Anatomical Context for Pure Autonomic Failure

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Pure Autonomic Failure:

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

Animal Models for Pure Autonomic Failure or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Pure Autonomic Failure:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.1TH, REN, DBH, SNCA
2MP:00053868.0SNCA, DBH, REN, TH
3MP:00053768.0TH, REN, DBH, SNCA
4MP:00036317.9DBH, SNCA, REN, TH
5MP:00053787.7SNCA, TH, REN, DBH

Publications for Pure Autonomic Failure

Sources:
51PubMed
See all sources

Articles related to Pure Autonomic Failure:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
Pure autonomic failure. (24095130)
2013
2
Incidence of cerebrovascular lesions in pure autonomic failure. (23706609)
2013
3
I+-Synuclein in the skin nerve of pure autonomic failure. (22186004)
2011
4
alpha-synuclein accumulation in skin nerve fibers revealed by skin biopsy in pure autonomic failure. (20157164)
2010
5
Autonomic innervation in multiple system atrophy and pure autonomic failure. (20660924)
2010
6
Differences in skin sympathetic involvements between two chronic autonomic disorders: multiple system atrophy and pure autonomic failure. (18805037)
2009
7
Renal impairment of pure autonomic failure. (19738158)
2009
8
Hyposmia in pure autonomic failure. (19433741)
2009
9
Reduced perfusion in the anterior cingulate cortex of patients with pure autonomic failure: an 123I-IMP SPECT study. (19684240)
2009
10
Frequent nocturnal vocalization in pure autonomic failure. (18534130)
2008
11
Central dopamine deficiency in pure autonomic failure. (18363034)
2008
12
REM sleep behavioral disorder in pure autonomic failure (PAF). (16505328)
2006
13
Cognitive functioning in orthostatic hypotension due to pure autonomic failure. (16683070)
2006
14
Skin vasomotor reflex responses in two contrasting groups of autonomic failure: multiple system atrophy and pure autonomic failure. (16845569)
2006
15
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
16
Chronic intestinal pseudo-obstruction as the initial feature of pure autonomic failure. (16705209)
2006
17
Cevimeline hydrochloride improved cholinergic dysfunction in a patient with pure autonomic failure. (15995794)
2006
18
Cardiac and extracardiac sympathetic denervation in Parkinson's disease with orthostatic hypotension and in pure autonomic failure. (16269589)
2005
19
The effects of water ingestion on orthostatic hypotension in two groups of chronic autonomic failure: multiple system atrophy and pure autonomic failure. (15548493)
2004
20
Pressor effect of water instilled via a gastrostomy tube in pure autonomic failure. (15296798)
2004
21
An explanation of the unexpected efficacy of L-DOPS in pure autonomic failure. (15666060)
2004
22
Social and motivational functioning is not critically dependent on feedback of autonomic responses: neuropsychological evidence from patients with pure autonomic failure. (15381028)
2004
23
Pure autonomic failure: an immaculate misconception? (15452282)
2004
24
Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy. (12833405)
2003
25
Sympathetic cardiac denervation in Parkinson's disease and pure autonomic failure but not in multiple system atrophy. (12438492)
2002
26
The cardiovascular effects of metoclopramide in multiple system atrophy and pure autonomic failure. (11605821)
2001
27
Hormonal and cardiovascular reflex assessment in a female patient with pure autonomic failure. (11018809)
2000
28
Micturitional disturbance in pure autonomic failure. (10668724)
2000
29
Symptoms associated with orthostatic hypotension in pure autonomic failure and multiple system atrophy. (10552235)
1999
30
Separating the primary autonomic failure syndromes, multiple system atrophy, and pure autonomic failure from Parkinson's disease. (10410741)
1999
31
REM sleep behaviour disorder differentiates pure autonomic failure from multiple system atrophy with autonomic failure. (9598693)
1998
32
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
33
Unmyelinated nerve fibers in sural nerve in pure autonomic failure. (9485071)
1998
34
Identification of a renin threshold and its relationship to salt intake in a patient with pure autonomic failure. (9369257)
1997
35
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
36
Consensus statement on the definition of orthostatic hypotension, pure autonomic failure and multiple system atrophy. (8726100)
1996
37
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
38
Consensus statement on the definition of orthostatic hypotension, pure autonomic failure, and multiple system atrophy. (8994128)
1996
39
The definition of orthostatic hypotension, pure autonomic failure, and multiple system atrophy. (8740670)
1996
40
Pure Autonomic Failure: complex abnormalities in the neural mechanisms regulating the cardiovascular system. (7769156)
1995
41
Pure autonomic failure: a new case with clinical, biochemical, and necropsy data. (8006660)
1994
42
Effects of ibopamine on postural hypotension in pure autonomic failure. (7687709)
1993
43
Cardiovascular and hormonal responses to liquid food challenge in idiopathic Parkinson's disease, multiple system atrophy, and pure autonomic failure. (8492945)
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
Sleep patterns and blood pressure variability in patients with pure autonomic failure. (1822265)
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

Genetic Variations for Pure Autonomic Failure

Expression for genes affiliated with Pure Autonomic Failure

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 54Reactome, 4Cell Signaling Technology
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4TH, SNCA
29.4TH, SNCA
39.3TH, DBH
4
Tyrosine metabolism p.1 (dopamine)
Hide members
9.3TH, DBH
5
Hide members
9.3TH, DBH
6
Hide members
9.3TH, DBH
7
Hide members
9.3DBH, TH
88.8TH, DBH, SNCA

Compounds for genes affiliated with Pure Autonomic Failure

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB, 2BitterDB, 60Tocris Bioscience
See all sources

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

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1atropine45 29 1112.2SNCA
21 methyl 4 phenylpyridinium459.8TH, SNCA
3selegiline45 1110.8TH, SNCA
4apomorphine45 29 1111.8TH, SNCA
5l-dops459.8DBH, TH
6alpha-methyl-p-tyrosine459.8DBH, TH
7atrazine459.8TH, DBH
8octopamine45 2910.8DBH, TH
9carbidopa45 2910.7TH, DBH
10rotenone459.7SNCA, TH
11dopac459.7TH, DBH
12mhpg459.7DBH, TH
13methamphetamine45 50 1111.7TH, SNCA
14maoa459.7DBH, TH
15homovanillic acid45 2410.7TH, DBH
16amphetamine45 1110.7SNCA, TH
17tyramine45 29 2411.7DBH, TH
18l-amino acid459.7TH, DBH
19tetrahydrobiopterin45 11 2411.7DBH, TH
20doxycycline45 1110.7SNCA, TH
21methanol45 2410.7DBH, SNCA
22glycyrrhizin45 2910.5REN, TH
23ganciclovir45 1110.5TH, DBH
24opiate459.5TH, DBH
25metoclopramide45 1110.4REN, DBH
26halothane45 29 1111.3REN, DBH
27clonidine45 29 1111.3REN, DBH
286-hydroxydopamine459.3TH, DBH, SNCA
29mptp459.3SNCA, DBH, TH
30levodopa45 1110.2SNCA, DBH, TH
31cocaine45 1110.2TH, DBH, SNCA
32choline45 11 2411.2TH, DBH, SNCA
33acetylcholine45 50 29 11 2413.2TH, DBH, SNCA
34iron45 2410.1SNCA, DBH, TH
35lithium45 50 11 2412.1DBH, REN
36adenylate459.1TH, DBH, SNCA
37propranolol45 29 50 11 2413.1REN, DBH
38h2o2459.0TH, DBH, SNCA
39haloperidol45 29 2 50 1113.0REN, TH
40vanillylmandelic acid45 2410.0TH, REN, DBH
41corticosterone45 60 2410.9TH, REN, DBH
42epinephrine45 11 2410.9TH, REN, DBH
43forskolin45 50 1110.9TH, REN, DBH
44pge2458.8REN, DBH, SNCA
45glutamate458.8TH, DBH, SNCA
46dexamethasone45 50 29 1111.5TH, REN, DBH
47catecholamine458.4TH, REN, DBH, SNCA
48norepinephrine45 11 2410.4SNCA, DBH, REN, TH
49dopamine45 29 11 2411.4TH, REN, DBH, SNCA
50nitric oxide45 11 2410.2REN, DBH, SNCA

GO Terms for genes affiliated with Pure Autonomic Failure

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1synaptic vesicleGO:0080219.4TH, SNCA
2terminal boutonGO:0431959.1TH, SNCA

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1dopamine biosynthetic processGO:0424169.5TH, SNCA
2norepinephrine biosynthetic processGO:0424219.5TH, DBH
3catecholamine biosynthetic processGO:0424239.5DBH, TH
4response to amphetamineGO:0019759.4DBH, TH
5locomotory behaviorGO:0076269.3TH, DBH
6memoryGO:0076139.2TH, DBH
7cellular response to drugGO:0356909.1TH, REN
8fatty acid metabolic processGO:0066319.1TH, SNCA
9response to lipopolysaccharideGO:0324968.8TH, REN, SNCA

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

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

Products for genes affiliated with Pure Autonomic Failure

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Sources for Pure Autonomic Failure

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet