MCID: PRT058
MIFTS: 46

Pure Autonomic Failure malady

Rare diseases, Cardiovascular diseases, Neuronal diseases categories

Aliases & Classifications for Pure Autonomic Failure

About this section
Sources:
41NIH Rare Diseases, 42NINDS, 43Novoseek, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Pure Autonomic Failure, Aliases & Descriptions:

Name: Pure Autonomic Failure 41 43 47 60
Idiopathic Orthostatic Hypotension 41 47 60
Bradbury-Eggleston Syndrome 41 42 47
Pure Idiopatic Dysautonomia 41 47
Orthostatic Hypotension 41 42
 
Pure Dysautonomia 41 47
Paf 41 47
Bradbury Eggleston Syndrome 41
Hypotension Orthostatic 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
pure autonomic failure:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: elderly


External Ids:

Orphanet47 441
MESH via Orphanet34 C544351, D054970
ICD10 via Orphanet26 G90.3
UMLS via Orphanet61 C0393911, C2931939
ICD1025 I95.1

Summaries for Pure Autonomic Failure

About this section


NINDS:42 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 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:41 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:63 Pure autonomic failure, also known as Bradbury-Eggleston syndrome or idiopathic orthostatic hypotension,... more...

Related Diseases for Pure Autonomic Failure

About this section

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

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1multiple system atrophy31.2TH, DBH, SNCA
2autonomic neuropathy30.8REN, DBH
3dysautonomia30.5SNCA, DBH
4amyloidosis30.4SNCA, DBH
5dementia30.3SNCA, TH
6congestive heart failure30.1REN, DBH
7multiple system atrophy with orthostatic hypotension10.8
8neuropathy10.6
9syncope10.5
10endotheliitis10.5
11orthostatic intolerance10.5
12dopamine beta-hydroxylase deficiency10.5
13pernicious anemia10.5
14spinal cord injury10.4
15adie syndrome10.4
16diabetic autonomic neuropathy10.4
17quadriplegia10.4
18asthma10.4
19cerebritis10.3
20synucleinopathy10.3
21autonomic dysfunction10.3
22pleurisy10.3
23amyloidosis, hereditary, transthyretin-related10.3
24anhidrosis10.3
25hemangioblastoma10.3
26impotence10.3
27vitamin b12 deficiency10.3
28coronary artery disease10.2
29artery disease10.2
30dysautonomia, familial10.2
31motor neuron disease10.2
32neuronitis10.2
33rem sleep behavior disorder10.2
34intestinal pseudo-obstruction10.2
35polyneuropathy10.2
36baroreflex failure10.2
37postural hypotension10.2
38supranuclear palsy, progressive10.2SNCA, TH
39atherosclerosis10.2
40carotid artery occlusion10.2
41dementia, lewy body10.2SNCA, TH
42ganglioglioma10.2SNCA, TH
43ganglioneuroma10.2SNCA, TH
44movement disease10.2TH, SNCA
45alacrima, achalasia, and mental retardation syndrome10.1
46partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome10.1
47syncope, familial vasovagal10.1
48occipital horn syndrome10.1
49parkinson disease 410.1
50sandhoff disease, infantile, juvenile, and adult forms10.1

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



Diseases related to pure autonomic failure

Symptoms for Pure Autonomic Failure

About this section

Drugs & Therapeutics for Pure Autonomic Failure

About this section

Drug clinical trials:

Search ClinicalTrials for Pure Autonomic Failure

Search NIH Clinical Center for Pure Autonomic Failure

Genetic Tests for Pure Autonomic Failure

About this section

Anatomical Context for Pure Autonomic Failure

About this section

MalaCards organs/tissues related to Pure Autonomic Failure:

31
Heart, Brain, Spinal cord, Skin, Cortex, Colon, Cingulate cortex

Animal Models for Pure Autonomic Failure or affiliated genes

About this section

MGI Mouse Phenotypes related to Pure Autonomic Failure:

35
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

About this section

Articles related to Pure Autonomic Failure:

(show top 50)    (show all 75)
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
Pure autonomic failure in association with human alpha-synucleinopathy. (11109008)
2000
32
Hormonal and cardiovascular reflex assessment in a female patient with pure autonomic failure. (11018809)
2000
33
Symptoms associated with orthostatic hypotension in pure autonomic failure and multiple system atrophy. (10552235)
1999
34
Separating the primary autonomic failure syndromes, multiple system atrophy, and pure autonomic failure from Parkinson's disease. (10410741)
1999
35
REM sleep behaviour disorder differentiates pure autonomic failure from multiple system atrophy with autonomic failure. (9598693)
1998
36
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
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

About this section

Expression for genes affiliated with Pure Autonomic Failure

About this section
Search GEO for disease gene expression data for Pure Autonomic Failure.

Pathways for genes affiliated with Pure Autonomic Failure

About this section

Pathways related to Pure Autonomic Failure according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4SNCA, TH
29.4TH, SNCA
3
Show member pathways
phenylalanine utilization36
noradrenaline and adrenaline degradation36
phenylalanine degradation IV36
9.3DBH, TH
4
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.3DBH, TH
5
Show member pathways
catecholamine biosynthesis36
9.3DBH, TH
6
Show member pathways
Serotonin Transporter Activity36
9.3DBH, TH
79.3DBH, TH
88.8SNCA, DBH, TH

Compounds for genes affiliated with Pure Autonomic Failure

About this section

Compounds related to Pure Autonomic Failure according to GeneCards Suite gene sharing:

(show top 50)    (show all 70)
idCompoundScoreTop Affiliating Genes
11 methyl 4 phenylpyridinium439.8SNCA, TH
2selegiline43 1210.8SNCA, TH
3alpha-methyl-p-tyrosine439.8DBH, TH
4apomorphine28 43 1211.8SNCA, TH
5l-dops439.8DBH, TH
6atrazine439.8DBH, TH
7octopamine43 2810.7TH, DBH
8carbidopa43 2810.7DBH, TH
9dopac439.7TH, DBH
10rotenone439.7SNCA, TH
11mhpg439.7DBH, TH
12maoa439.7DBH, TH
13methamphetamine43 49 1211.7SNCA, TH
14homovanillic acid43 2410.7TH, DBH
15tyramine43 28 2411.7TH, DBH
16amphetamine43 49 1211.7TH, SNCA
17l-amino acid439.7TH, DBH
18tetrahydrobiopterin43 24 1211.7DBH, TH
19doxycycline43 1210.7SNCA, TH
20methanol43 2410.6DBH, SNCA
21atropine43 28 1211.6TH, SNCA
22glycyrrhizin43 2810.5REN, TH
23ganciclovir43 1210.5DBH, TH
24opiate439.5DBH, TH
25metoclopramide43 49 1211.4REN, DBH
26halothane43 49 28 1212.3DBH, REN
27clonidine43 49 28 1212.3REN, DBH
286-hydroxydopamine439.3SNCA, DBH, TH
29mptp439.3TH, DBH, SNCA
30levodopa43 1210.2SNCA, DBH, TH
31cocaine43 1210.2TH, DBH, SNCA
32choline43 24 1211.2SNCA, DBH, TH
33acetylcholine43 49 28 24 1213.2SNCA, DBH, TH
34iron43 2410.2SNCA, DBH, TH
35adenylate439.1SNCA, DBH, TH
36propranolol43 28 49 24 1213.1REN, DBH
37h2o2439.1TH, DBH, SNCA
38lithium43 49 24 1212.0REN, DBH
39vanillylmandelic acid43 2410.0REN, DBH, TH
40corticosterone43 59 2410.9TH, DBH, REN
41epinephrine43 24 1210.9REN, DBH, TH
42forskolin43 49 1210.9REN, DBH, TH
43pge2438.8DBH, REN, SNCA
44alanine438.8SNCA, DBH, TH
45dexamethasone43 49 28 1211.6TH, DBH, REN
46glutamate438.5SNCA, DBH, TH
47catecholamine438.4SNCA, REN, DBH, TH
48norepinephrine43 24 1210.4TH, DBH, REN, SNCA
49dopamine43 28 24 1211.4SNCA, REN, DBH, TH
50nitric oxide43 24 1210.4DBH, REN, SNCA

GO Terms for genes affiliated with Pure Autonomic Failure

About this section

Cellular components related to Pure Autonomic Failure according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1terminal boutonGO:00431959.3SNCA, TH
2synaptic vesicleGO:00080219.1SNCA, TH
3extracellular regionGO:00055768.5SNCA, REN, DBH

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1dopamine biosynthetic processGO:00424169.6SNCA, TH
2norepinephrine biosynthetic processGO:00424219.6DBH, TH
3catecholamine biosynthetic processGO:00424239.5TH, DBH
4response to amphetamineGO:00019759.4TH, DBH
5fatty acid metabolic processGO:00066319.3TH, SNCA
6memoryGO:00076139.3DBH, TH
7cellular nitrogen compound metabolic processGO:00346419.3DBH, TH
8cellular response to drugGO:00356909.2REN, TH
9locomotory behaviorGO:00076269.0DBH, TH
10response to lipopolysaccharideGO:00324968.8SNCA, REN, TH

Molecular functions related to Pure Autonomic Failure according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein domain specific bindingGO:00199049.4SNCA, TH
2ferrous iron bindingGO:00081989.3SNCA, TH
3copper ion bindingGO:00055079.0SNCA, DBH

Products for genes affiliated with Pure Autonomic Failure

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pure Autonomic Failure

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet