MCID: DYS021
MIFTS: 44

Dysautonomia malady

Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Skin diseases categories

Summaries for Dysautonomia

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NINDS:42 Dysautonomia refers to a disorder of autonomic nervous system (ANS) function. Most physicians view dysautonomia in terms of failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia involving excessive ANS activities also can occur. Dysautonomia can be local, as in reflex sympathetic dystrophy, or generalized, as in pure autonomic failure. It can be acute and reversible, as in Guillain-Barre syndrome, or chronic and progressive. Several common conditions such as diabetes and alcoholism can include dysautonomia. Dysautonomia also can occur as a primary condition or in association with degenerative neurological diseases such as Parkinson's disease. Other diseases with generalized, primary dysautonomia include multiple system atrophy and familial dysautonomia. Hallmarks of generalized dysautonomia due to sympathetic failure are impotence (in men) and a fall in blood pressure during standing (orthostatic hypotension). Excessive sympathetic activity can present as hypertension or a rapid pulse rate.

MalaCards based summary: Dysautonomia, also known as autonomic nervous system disorders, is related to dysautonomia, familial and pure autonomic failure. An important gene associated with Dysautonomia is IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein), and among its related pathways are RNA Polymerase I Promoter Opening and Neuroscience. The compounds methanol and 6-hydroxydopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and spinal cord, and related mouse phenotypes are cardiovascular system and limbs/digits/tail.

Wikipedia:63 Dysautonomia (or autonomic dysfunction, autonomic neuropathy) is a condition in which the autonomic... more...

Aliases & Classifications for Dysautonomia

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Sources:
42NINDS, 43Novoseek, 60UMLS
See all sources

Dysautonomia, Aliases & Descriptions:

Name: Dysautonomia 42 43 60
 
Autonomic Nervous System Disorders 60


Classifications:



Related Diseases for Dysautonomia

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Diseases in the Dysautonomia family:

Dysautonomia, Familial Dysautonomia Like Disorder

Diseases related to Dysautonomia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 166)
idRelated DiseaseScoreTop Affiliating Genes
1dysautonomia, familial31.1DBH, IKBKAP, NTRK1
2pure autonomic failure30.7DBH, SNCA
3autonomic neuropathy30.5NTRK1, IKBKAP, DBH
4multiple system atrophy30.2SNCA, PRNP, DBH
5hereditary sensory neuropathy30.1IKBKAP, NTRK1
6spinocerebellar ataxia29.8PRNP, SNCA
7pheochromocytoma29.7SNCA, NTRK1, DBH
8parkinson disease, late-onset29.7DBH, SNCA
9neuroblastoma29.5NTRK1, PRNP, DBH
10autonomic dysfunction10.5
11brain injury10.5
12traumatic brain injury10.4
13neuropathy10.4
14motor neuropathy peripheral with dysautonomia10.4
15neuronitis10.3
16fibromyalgia10.3
17acute cholinergic dysautonomia10.3
18polyneuropathy10.2
19dysautonomia like disorder10.2
20leprosy10.2
21neuroaxonal dystrophy10.1NTRK1, SNCA
22orthostatic intolerance10.1
23stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome10.1
24chronic fatigue syndrome10.1
25chagas disease10.1
26esophagitis10.1
27myopathy10.1
28syncope10.1
29ganglioglioma10.1SNCA, NTRK1
30ganglioneuroma10.1NTRK1, SNCA
31follicular adenoma10.1NTRK1, HSPG2
32alcohol dependence10.1SNCA, DBH
33bipolar disorder10.0DBH, HSPG2
34supranuclear palsy, progressive10.0SNCA, PRNP
35insensitivity to pain, congenital, with anhidrosis10.0
36neuropathy, hereditary sensory and autonomic, type vi10.0
37machado-joseph disease10.0
38rett syndrome10.0
39migraine10.0
40dopamine beta-hydroxylase deficiency10.0
41achalasia-addisonianism-alacrimia syndrome10.0
42insomnia, fatal familial10.0
43myasthenia gravis10.0
44sinusitis10.0
45third-degree atrioventricular block10.0
46lepromatous leprosy10.0
47esophageal atresia10.0
48hypermobility syndrome10.0
49cerebritis10.0
50atrioventricular block10.0

Graphical network of the top 20 diseases related to Dysautonomia:



Diseases related to dysautonomia

Symptoms for Dysautonomia

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Drugs & Therapeutics for Dysautonomia

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Drug clinical trials:

Search ClinicalTrials for Dysautonomia

Search NIH Clinical Center for Dysautonomia

Genetic Tests for Dysautonomia

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Anatomical Context for Dysautonomia

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MalaCards organs/tissues related to Dysautonomia:

31
Brain, Heart, Spinal cord, Testes, Skin, Colon, Bone, Liver, Lung, Salivary gland, Small intestine, Kidney, T cells, Thalamus, Tongue

Animal Models for Dysautonomia or affiliated genes

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Publications for Dysautonomia

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Articles related to Dysautonomia:

(show top 50)    (show all 542)
idTitleAuthorsYear
1
A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation. (24917501)
2014
2
Dysautonomia in narcolepsy: evidence by questionnaire assessment. (25324880)
2014
3
Dysautonomia in Parkinson disease. (24715569)
2014
4
The presence of dysautonomia in different subgroups of myasthenia gravis patients. (25119843)
2014
5
Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons. (24173031)
2013
6
Dysautonomia after pediatric brain injury. (22712762)
2012
7
Cardiovascular dysautonomia in Parkinson disease: from pathophysiology to pathogenesis. (22094370)
2012
8
Dysautonomia: perioperative implications. (22143168)
2012
9
A 10-year follow-up study of patients with severe traumatic brain injury and dysautonomia treated with intrathecal baclofen therapy. (22668125)
2012
10
SIADH and dysautonomia as the initial presentation of Guillain-BarrAc syndrome. (21335571)
2012
11
Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality. (22046433)
2011
12
The Movement Disorders task force review of dysautonomia rating scales in Parkinson's disease with regard to symptoms of orthostatic hypotension. (21547951)
2011
13
Evaluation of formalin-fixed ileum as the optimum method to diagnose equine dysautonomia (grass sickness) in simulated intestinal biopsies. (20224086)
2010
14
A comparison of dysautonomias comorbid with cyclic vomiting syndrome and with migraine. (20111731)
2009
15
Neoplasia in familial dysautonomia: a 20-year review in a young patient population. (19914433)
2009
16
Deep breath test for evaluation of autonomic nervous system dysfunction in familial dysautonomia. (20077949)
2009
17
Plasma catechols in familial dysautonomia: a long-term follow-up study. (18357519)
2008
18
Dysautonomia and Clinical Outcome in Vegetative State. (18771395)
2008
19
The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies. (17985250)
2008
20
Perioperative management of familial dysautonomia: a systematic review. (17202006)
2007
21
Cardiovascular dysautonomia as a cause of falls in Parkinson's disease. (16621660)
2006
22
Dysautonomia and salmonellosis in an 11-year-old female llama (Lama glama). (16496946)
2006
23
Respiratory aspects of Riley-Day Syndrome: familial dysautonomia. (16798585)
2006
24
Necrotizing enterocolitis in a premature infant as the presenting symptom of familial dysautonomia in the neonatal period: case report and review of the literature. (16215920)
2005
25
Successful pharmacotherapy for an adult case with prolonged symptoms of postganglionic cholinergic dysautonomia. (15159611)
2004
26
Abomasal emptying defect of sheep may be an acquired form of dysautonomia. (15017030)
2004
27
Dysautonomia in chronic fatigue syndrome: facts, hypotheses, implications. (14962627)
2004
28
Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews. (12885336)
2003
29
Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia. (12185162)
2002
30
Transcranial Doppler sonography during head up tilt suggests preserved central sympathetic activation in familial dysautonomia. (11971058)
2002
31
Canine dysautonomia: two clinical cases. (11833820)
2002
32
Dysautonomia and autonomic neuropathies. (11785731)
2002
33
Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene. (12102458)
2002
34
Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome and not in the preserved speech variant. (11392524)
2001
35
Gallbladder contraction in familial dysautonomia. (10229040)
1999
36
Indicators of dysautonomia in severe Guillain-BarrAc syndrome. (10631632)
1999
37
Acute dysautonomia secondary to autoimmune diseases: efficacy of intravenous immunoglobulin and correlation with a stimulation of plasma norepinephrine levels. (10609075)
1999
38
Taste and smell in familial dysautonomia. (9233364)
1997
39
A case of SjAPgren syndrome associated with multiple mononeuritis and dysautonomia including bilateral tonic pupils]. (9311000)
1997
40
A pilot study of motility and tone of the left colon in patients with diarrhea due to functional disorders and dysautonomia. (9040210)
1997
41
An evaluation of the use of cisapride in horses with chronic grass sickness (equine dysautonomia) (8885464)
1996
42
Familial dysautonomia (Riley-Day syndrome). (10829892)
1995
43
Decreased incorporation of D-glucosamine into glycosphingolipids of intact Familial Dysautonomia lymphoblasts. (8746450)
1995
44
Atrial natriuretic peptide response to postural change and medication in familial dysautonomia. (7711467)
1994
45
Maturational dysautonomia and facial anomalies associated with esophageal atresia: support for neural crest involvement. (8331506)
1993
46
Autonomic neurone degeneration in equine dysautonomia (grass sickness). (1469124)
1992
47
Incidence of familial dysautonomia in Israel 1977-1981. (3652488)
1987
48
Cholinergic dysautonomia and Eaton-Lambert syndrome. (220562)
1979
49
Familial dysautonomia (Riley-Day syndrome). (6036298)
1967
50
The neuropsychiatric aspects of familial dysautonomia (the Riley-Day syndrome). (13332409)
1956

Variations for Dysautonomia

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Expression for genes affiliated with Dysautonomia

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Search GEO for disease gene expression data for Dysautonomia.

Pathways for genes affiliated with Dysautonomia

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Compounds for genes affiliated with Dysautonomia

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Sources:
43Novoseek, 24HMDB, 28IUPHAR, 49PharmGKB, 12DrugBank
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Compounds related to Dysautonomia according to GeneCards Suite gene sharing:

(show all 48)
idCompoundScoreTop Affiliating Genes
1methanol43 2410.9SNCA, DBH
26-hydroxydopamine439.8DBH, SNCA
3mptp439.8SNCA, DBH
4propranolol43 28 49 24 1213.7DBH, HSPG2
5atropine43 28 1211.7SNCA, HSPG2
6levodopa43 1210.7DBH, SNCA
7n-ethylmaleimide43 1210.6DBH, HSPG2
8opiate439.6NTRK1, DBH
9capsaicin43 2810.6HSPG2, NTRK1
10c2ceramide439.6NTRK1, HSPG2
11hemocyanin439.6PRNP, DBH
12egcg439.5IKBKAP, HSPG2
13quinacrine43 1210.5PRNP, HSPG2
14formate439.5SNCA, PRNP
15doxycycline43 1210.4SNCA, PRNP
16phosphatidylcholine439.4SNCA, DBH, HSPG2
17guanidine hydrochloride439.4PRNP, SNCA
18catecholamine439.3SNCA, NTRK1, DBH
19gnrh439.3HSPG2, DBH, NTRK1
20pd 98,059439.3NTRK1, DBH, HSPG2
21sodium dodecylsulfate439.2SNCA, PRNP
22ganglioside439.2NTRK1, PRNP
23dopamine43 28 24 1212.2SNCA, NTRK1, DBH
24cocaine43 1210.2SNCA, DBH
25cyclic amp43 2410.2HSPG2, DBH, NTRK1
26arachidonic acid43 28 24 1212.2SNCA, NTRK1, HSPG2
27copper43 2410.1SNCA, PRNP, DBH
28iron43 2410.0SNCA, PRNP, DBH
29hydrogen43 2410.0DBH, PRNP, SNCA
30lysine439.0DBH, PRNP, SNCA
31phorbol439.0NTRK1, PRNP, DBH
32phosphatidylinositol438.9NTRK1, DBH, HSPG2
33heparin43 28 24 1211.9SNCA, PRNP, HSPG2
34paraffin438.9PRNP, NTRK1, SNCA
35nitric oxide43 24 1210.9DBH, NTRK1, SNCA
36choline43 24 1210.8SNCA, NTRK1, DBH, HSPG2
37acetylcholine43 49 28 24 1212.8HSPG2, DBH, NTRK1, SNCA
38adenylate438.8HSPG2, DBH, NTRK1, SNCA
39pge2438.6HSPG2, DBH, PRNP, SNCA
40threonine438.5NTRK1, IKBKAP, PRNP
41oxygen43 249.5DBH, PRNP, NTRK1, SNCA
42lipid438.4DBH, PRNP, NTRK1, SNCA
43h2o2438.0HSPG2, DBH, PRNP, NTRK1, SNCA
44glutamate438.0HSPG2, DBH, PRNP, NTRK1, SNCA
45alanine438.0SNCA, NTRK1, PRNP, DBH, HSPG2
46tyrosine438.0HSPG2, DBH, PRNP, NTRK1, SNCA
47calcium43 49 24 1210.9HSPG2, DBH, PRNP, NTRK1, SNCA
48serine437.6HSPG2, DBH, PRNP, IKBKAP, NTRK1, SNCA

GO Terms for genes affiliated with Dysautonomia

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Biological processes related to Dysautonomia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of neuron apoptotic processGO:00435249.3SNCA, NTRK1
2learning or memoryGO:00076119.0NTRK1, PRNP
3negative regulation of protein phosphorylationGO:00019339.0SNCA, PRNP
4agingGO:00075689.0SNCA, NTRK1

Molecular functions related to Dysautonomia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055078.7SNCA, PRNP, DBH

Products for genes affiliated with Dysautonomia

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Sources for Dysautonomia

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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