PAF
MCID: PRT058
MIFTS: 44

Pure Autonomic Failure (PAF) malady

Cardiovascular diseases, Neuronal diseases categories

Summaries for Pure Autonomic Failure

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Sources:
42NIH Rare Diseases, 43NINDS, 63Wikipedia, 32MalaCards
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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: Pure Autonomic Failure, also known as idiopathic orthostatic hypotension, is related to multiple system atrophy and parkinson's disease. 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 brain, spinal cord and heart, and related mouse phenotypes are cardiovascular system and behavior/neurological.

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:63 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, 44Novoseek, 48Orphanet, 60UMLS, 43NINDS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
pure autonomic failure:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

pure autonomic failure 42 44 48 60
idiopathic orthostatic hypotension 42 48 60
bradbury-eggleston syndrome 42 43 48
orthostatic hypotension 42 43
autonomic nervous system disorders 60
pure idiopatic dysautonomia 48
bradbury eggleston syndrome 42
hypotension adverse event 60
hypotension orthostatic 44
pure dysautonomia 48
paf 48


External Ids:

MESH via Orphanet35 C544351, D054970
ICD10 via Orphanet26 G90.3
SNOMED-CT via Orphanet57 84438001
UMLS via Orphanet61 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 141)
idRelated DiseaseScoreTop Affiliating Genes
1multiple system atrophy31.2TH, DBH, SNCA
2parkinson's disease30.8DBH, TH, SNCA
3autonomic neuropathy30.7REN, DBH
4lewy body dementia30.1TH, SNCA
5dysautonomia30.1DBH, SNCA
6dementia30.1TH, SNCA
7paraganglioma30.1TH
8movement disease30.1SNCA, TH
9congestive heart failure30.1DBH, REN
10ischemia30.0SNCA, TH
11multiple system atrophy with orthostatic hypotension10.7
12neuropathy10.5
13autonomic nervous system disease10.5
14postural hypotension10.5
15pernicious anemia10.4
16diabetic autonomic neuropathy10.4
17diabetic neuropathy10.4
18quadriplegia10.3
19adie syndrome10.3
20dopamine beta-hydroxylase deficiency10.3
21orthostatic hypotensive disorder of streeten10.3
22asthma10.3
23skin atrophy10.3
24cerebritis10.3
25sleep disorder10.3
26pleurisy10.3
27anhidrosis10.3
28transthyretin amyloidosis10.3
29hemangioblastoma10.3
30impotence10.3
31vitamin b12 deficiency10.3
32coronary artery disease10.2
33reflex sympathetic dystrophy10.1
34burning mouth syndrome10.1
35horner's syndrome10.1
36mouth disease10.1
37nervous system disease10.1
38dysautonomia like disorder10.1
39diabetic polyneuropathy10.1
40rem sleep behavior disorder10.1
41neuronitis10.1
42riley-day syndrome10.1
43diabetes mellitus10.1
44hypertension10.1
45intestinal obstruction10.1
46intestinal pseudo-obstruction10.1
47motor neuron disease10.1
48polyneuropathy10.1
49autonomic dysfunction10.1
50carotid artery occlusion10.1

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



Diseases related to pure autonomic failure

Clinical Features for Pure Autonomic Failure

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Drugs & Therapeutics for Pure Autonomic Failure

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Pure Autonomic Failure

Search CenterWatch for Pure Autonomic Failure

Genetic Tests for Pure Autonomic Failure

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Anatomical Context for Pure Autonomic Failure

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32MalaCards
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MalaCards organs/tissues related to Pure Autonomic Failure:

32
Brain, Spinal cord, Heart

Animal Models for Pure Autonomic Failure or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pure Autonomic Failure:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.1TH, REN, DBH, SNCA
2MP:00053868.0SNCA, DBH, REN, TH
3MP:00053768.0TH, REN, DBH, SNCA
4MP:00036317.9SNCA, DBH, REN, TH
5MP:00053787.7SNCA, DBH, REN, TH

Publications for Pure Autonomic Failure

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Genetic Variations for Pure Autonomic Failure

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Expression for genes affiliated with Pure Autonomic Failure

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Sources:
1BioGPS, 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:
37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 53Reactome, 4Cell Signaling Technology
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Pathways related to Pure Autonomic Failure according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Pure Autonomic Failure

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 2BitterDB, 59Tocris Bioscience
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Compounds related to Pure Autonomic Failure according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1atropine44 28 1112.2SNCA
21 methyl 4 phenylpyridinium449.8TH, SNCA
3selegiline44 1110.8TH, SNCA
4apomorphine44 28 1111.8TH, SNCA
5alpha-methyl-p-tyrosine449.8TH, DBH
6l-dops449.8TH, DBH
7atrazine449.8TH, DBH
8octopamine44 2810.8DBH, TH
9carbidopa44 2810.7DBH, TH
10rotenone449.7TH, SNCA
11dopac449.7TH, DBH
12mhpg449.7TH, DBH
13methamphetamine44 49 1111.7TH, SNCA
14maoa449.7TH, DBH
15homovanillic acid44 2410.7TH, DBH
16amphetamine44 1110.7SNCA, TH
17tyramine44 28 2411.7DBH, TH
18l-amino acid449.7TH, DBH
19tetrahydrobiopterin44 11 2411.7DBH, TH
20doxycycline44 1110.7TH, SNCA
21methanol44 2410.7DBH, SNCA
22glycyrrhizin44 2810.5REN, TH
23ganciclovir44 1110.5DBH, TH
24opiate449.5TH, DBH
25metoclopramide44 1110.4DBH, REN
26halothane44 28 1111.3REN, DBH
27clonidine44 28 1111.3REN, DBH
286-hydroxydopamine449.3DBH, SNCA, TH
29mptp449.3DBH, TH, SNCA
30levodopa44 1110.2TH, SNCA, DBH
31cocaine44 1110.2DBH, SNCA, TH
32choline44 11 2411.2TH, DBH, SNCA
33acetylcholine44 49 28 11 2413.2TH, DBH, SNCA
34iron44 2410.1SNCA, TH, DBH
35lithium44 49 11 2412.1DBH, REN
36adenylate449.1DBH, SNCA, TH
37propranolol44 28 49 11 2413.1DBH, REN
38h2o2449.0TH, SNCA, DBH
39haloperidol44 28 2 49 1113.0TH, REN
40vanillylmandelic acid44 2410.0TH, DBH, REN
41corticosterone44 59 2410.9TH, DBH, REN
42epinephrine44 11 2410.9DBH, REN, TH
43forskolin44 49 1110.9TH, DBH, REN
44pge2448.8SNCA, REN, DBH
45glutamate448.8DBH, SNCA, TH
46dexamethasone44 49 28 1111.5REN, TH, DBH
47catecholamine448.4SNCA, DBH, REN, TH
48norepinephrine44 11 2410.4REN, TH, SNCA, DBH
49dopamine44 28 11 2411.4TH, REN, DBH, SNCA
50nitric oxide44 11 2410.2REN, SNCA, DBH

GO Terms for genes affiliated with Pure Autonomic Failure

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Sources:
16Gene Ontology
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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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet