MCID: PRT058

Pure Autonomic Failure malady

Summaries for Pure Autonomic Failure

Sources:
30NIH Rare Diseases, 31NINDS, 44Wikipedia, 22MalaCards
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Export this MalaCard
NINDS: 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).31

MalaCards: Pure Autonomic Failure, also known as bradbury-eggleston syndrome, is related to dysautonomia and autonomic dysfunction. An important gene associated with Pure Autonomic Failure is DBH (dopamine beta-hydroxylase (dopamine beta-monooxygenase)), and among its related pathways are Tyrosine metabolism p.1 (dopamine) and Tyrosine metabolism p.1 (dopamine). The compounds choline and alpha-methyl-p-tyrosine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, and related mouse phenotypes are nervous system and cardiovascular system.

NIH Rare Diseases: 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.30

Wikipedia: Pure autonomic failure, also known as Bradbury-Eggleston syndrome or idiopathic orthostatic hypotension,...44 more...

Aliases & Descriptions for Pure Autonomic Failure

Sources:
30NIH Rare Diseases, 31NINDS, 32Novoseek , 43UMLS
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pure autonomic failure 30 32 43
bradbury-eggleston syndrome 30 31
idiopathic orthostatic hypotension (a symptom) 30
orthostatic hypotension (a symptom) 30
bradbury eggleston syndrome 30

Related Diseases for Pure Autonomic Failure

Sources:
13GeneCards, 14GeneDecks
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Diseases related to pure autonomic failure by text searches and GeneDecks gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1dysautonomia29.8DBH, SNCA
2autonomic dysfunction29.3REN, SNCA
3multiple system atrophy29.1DBH, SNCA, TH
4alcohol withdrawal delirium12.9TH, DBH
5manic-depressive illness12.9DBH, TH
6placental insufficiency12.9DBH, TH
7autistic disorder12.9TH, DBH
8hyperprolactinemia12.8DBH, TH
9growth mental deficiency syndrome of myhre12.8TH, DBH
10attention deficit hyperactivity disorder12.8TH, DBH
11head injury12.8DBH, TH
12ppm-x syndrome12.8DBH, TH
13olivopontocerebellar atrophy12.8TH, SNCA
14lewy body dementia12.8SNCA, TH
15movement disease12.8TH, SNCA
16cocaine abuse12.8SNCA, DBH
17ganglioneuroma12.8TH, SNCA
18nicotine dependence12.7DBH, TH
19ganglioglioma12.7SNCA, TH
20mood disorder12.7DBH, TH
21restless legs syndrome12.7SNCA, TH
22tourette syndrome12.7DBH, TH
23progressive supranuclear palsy12.7SNCA, TH
24gliosis12.7TH, SNCA
25aicardi-goutieres syndrome12.7SNCA, TH
26supranuclear palsy12.6TH, SNCA
27renal hypertension12.6DBH, REN
28postural hypotension12.6DBH, REN
29constipation12.6TH, DBH
30postural orthostatic tachycardia syndrome12.6DBH, REN
31orthostatic hypotension12.6DBH, REN
32hyperaldosteronism12.6REN, TH
33autonomic neuropathy12.6DBH, REN
34alcoholism12.5DBH, SNCA
35hypokalemia12.5TH, REN
36tetralogy of fallot12.5REN, DBH
37carcinoid syndrome12.5DBH, TH
38pulmonary edema12.5REN, TH
39prion disease12.5TH, SNCA
40syncope12.5REN, DBH
41differentiating neuroblastoma12.4SNCA, TH
42carcinoid tumors12.4DBH, TH
43congestive heart failure12.4REN, DBH
44addison's disease12.4TH, REN
45turner syndrome12.4REN, TH
46huntington's disease12.3SNCA, TH
47bipolar affective disorder12.3DBH, TH
48parkinson's disease12.3SNCA, DBH, TH
49anorexia nervosa12.3DBH, SNCA, TH
50neurodegenerative disease12.2SNCA, DBH, TH

Graphical network of the top 20 diseases related to pure autonomic failure:



Graphical network of diseases related to pure autonomic failure

Clinical Features for Pure Autonomic Failure

Drugs & Therapeutics for Pure Autonomic Failure

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-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:
22MalaCards
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MalaCards organs/tissues related to pure autonomic failure:

22
Brain, Spinal cord, Heart, Skin

Phenotypes for genes affiliated with Pure Autonomic Failure

Sources:
25MGI
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MGI Mouse Phenotypes related to pure autonomic failure:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1nervous system phenotypeMP:00036318.0DBH, SNCA, REN, TH
2cardiovascular system phenotypeMP:00053857.9REN, SNCA, TH, DBH
3behavior/neurological phenotypeMP:00053867.7TH, SNCA, REN, DBH

Publications for genes affiliated with Pure Autonomic Failure

Sources:
35PubMed
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Articles related to pure autonomic failure:

idTitleAuthorsYearAffiliating Genes
1alpha-synuclein accumulation in skin nerve fibers rev ealed by skin biopsy in pure autonomic failure. (20157164)Shishido T.... Mizoguchi K.2010SNCA
2Hyposmia in pure autonomic failure. (19433741)Silveira-Moriyama L.... Lees A.J.2009SNCA
3Olfactory dysfunction in pure autonomic failure: Impl ications for the pathogenesis of Lewy body diseases. (19201246)Goldstein D.S.... Sewell L.2009SNCA
4Central dopamine deficiency in pure autonomic failure . (18363034)Goldstein D.S.... Vortmeyer A.O.2008TH
5Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy. (12833405)Cho S.... Kim K.S.2003DBH
6Accumulation of alpha-synuclein in autonomic nerves in pure autonomic failure. (11294945)Kaufmann H.... Perl D.2001SNCA
7Pure autonomic failure in association with human alpha-synucleinopathy. (11109008)Arai K.... Hattori T.2000SNCA
8Identification of a renin threshold and its relationship to salt intake in a patient with pure autonomic failure. (9369257)Hohenbleicher H.... Sharma A.M.1997REN

Expression for genes affiliated with Pure Autonomic Failure

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Pure Autonomic Failure

Pathways for genes affiliated with Pure Autonomic Failure

Sources:
41Thomson Reuters, 10EMD Millipore, 34PharmGKB, 20KEGG, 38Reactome, 3Cell Signaling Technology
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Compounds for genes affiliated with Pure Autonomic Failure

Sources:
32Novoseek , 9DrugBank, 18HMDB, 34PharmGKB, 42Tocris Bioscience
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Compounds related to pure autonomic failure according to GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1choline32 9 18 9 13.3SNCA
2alpha-methyl-p-tyrosine32 9.9TH, DBH
3l-dops32 9.9TH, DBH
4atrazine32 9.9DBH, TH
5octopamine32 9.9DBH, TH
6carbidopa32 9.8DBH, TH
7dopac32 9.8DBH, TH
8mhpg32 9.8TH, DBH
9maoa32 9.8DBH, TH
10homovanillic acid32 18 10.8TH, DBH
11tyramine32 18 10.8TH, DBH
12l-amino acid32 9.8TH, DBH
13tetrahydrobiopterin32 9 18 9 12.8TH, DBH
141 methyl 4 phenylpyridinium32 9.7TH, SNCA
15selegiline32 9 9 11.7TH, SNCA
16apomorphine32 9 9 11.7SNCA, TH
17methanol32 18 10.7DBH, SNCA
18methamphetamine32 9 9 11.6TH, SNCA
19rotenone32 9.6SNCA, TH
20ganciclovir32 9 9 11.6TH, DBH
21amphetamine32 9 9 11.6TH, SNCA
22opiate32 9.6DBH, TH
23doxycycline32 9 9 11.6SNCA, TH
24atropine32 9 9 11.6TH, SNCA
25glycyrrhizin32 9.5REN, TH
26metoclopramide32 9 9 11.5DBH, REN
27halothane32 9 9 11.4DBH, REN
28clonidine32 9 9 11.4REN, DBH
29lithium32 34 9 18 9 13.3DBH, REN
306-hydroxydopamine32 9.3SNCA, TH, DBH
31mptp32 9.3DBH, TH, SNCA
32levodopa32 9 9 11.2DBH, TH, SNCA
33cocaine32 9 9 11.2TH, DBH, SNCA
34propranolol32 34 9 18 9 13.2DBH, REN
35acetylcholine32 9 18 9 12.2SNCA, TH, DBH
36iron32 18 10.1TH, SNCA, DBH
37haloperidol32 34 9 9 12.1TH, REN
38morphine32 9 9 11.1DBH, TH
39adenylate32 9.1SNCA, DBH, TH
40vanillylmandelic acid32 18 10.1DBH, TH, REN
41corticosterone32 18 10.0TH, REN, DBH
42epinephrine32 9 18 9 12.0REN, DBH, TH
43forskolin32 42 9 9 12.0REN, TH, DBH
44h2o232 8.9DBH, SNCA, TH
45pge232 8.8DBH, REN, SNCA
46nitric oxide32 9 18 9 11.5SNCA, REN, DBH
47dexamethasone32 42 34 9 9 12.5DBH, REN, TH
48catecholamine32 8.4TH, SNCA, DBH, REN
49norepinephrine32 9 18 9 11.4REN, SNCA, TH, DBH
50dopamine32 9 18 9 11.4DBH, REN, SNCA, TH

GO Terms for genes affiliated with Pure Autonomic Failure

Sources:
12Gene Ontology
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Biological processes related to pure autonomic failure according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1norepinephrine biosynthetic processGO:0424219.5TH, DBH
2catecholamine biosynthetic processGO:0424239.4DBH, TH
3locomotory behaviorGO:0076269.4TH, DBH
4dopamine biosynthetic processGO:0424169.2TH, SNCA
5memoryGO:0076139.1TH, DBH

Molecular functions related to pure autonomic failure according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:0055079.3SNCA, DBH

Sources for Pure Autonomic Failure

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS