MCID: DYS021
MIFTS: 48

Dysautonomia malady

Neuronal category

Summaries for Dysautonomia

Sources:
44NINDS, 64Wikipedia, 33MalaCards
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NINDS:44 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: Dysautonomia, also known as autonomic nervous system disorders, is related to riley-day syndrome and parkinson's disease. 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 NGF-independant TRKA activation and Development MAG-dependent inhibition of neurite outgrowth. The compounds forskolin and lestaurtinib have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and tongue, and related mouse phenotypes are integument and vision/eye.

Wikipedia:64 Dysautonomia (or autonomic dysfunction) is any disease or malfunction of the autonomic nervous system... more...

Aliases & Classifications for Dysautonomia

Sources:
44NINDS, 45Novoseek, 61UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

dysautonomia 44 45
autonomic nervous system disorders 61


Related Diseases for Dysautonomia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Dysautonomia family:

dysautonomia like disorder

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

(show top 50)    (show all 156)
idRelated DiseaseScoreTop Affiliating Genes
1riley-day syndrome31.0BDNF, NTRK1, NTRK2, DBH, IKBKAP
2parkinson's disease30.4DBH, SNCA, BDNF
3fatal familial insomnia30.3PRNP
4autonomic neuropathy30.3NTRK1, DBH, IKBKAP
5pure autonomic failure30.3DBH, SNCA
6spinocerebellar ataxia29.7FMR1, SNCA, PRNP
7asthma29.7IKBKAP, S100A12
8pheochromocytoma29.7SNCA, SYP, NTRK1, NTRK2, DBH
9autonomic dysfunction10.5
10brain injury10.4
11n syndrome10.4
12traumatic brain injury10.4
13guillain-barr� syndrome10.3
14motor neuropathy peripheral with dysautonomia10.3
15fibromyalgia10.3
16acute cholinergic dysautonomia10.2
17burning mouth syndrome10.2
18horner's syndrome10.2
19char syndrome10.2
20insomnia10.1
21chagas disease10.1
22chronic fatigue syndrome10.1
23stuve-wiedemann syndrome10.1
24orthostatic intolerance10.1
25atrioventricular block10.0
26mitral valve prolapse10.0
27lepromatous leprosy10.0
28esophageal atresia10.0
29acute intermittent porphyria10.0
30hypermobility syndrome10.0
31acute porphyria10.0
32dopamine beta-hydroxylase deficiency10.0
33dysautonomia like disorder10.0
34ataxia10.0
35syncope10.0
36neuropathy10.0IKBKAP
37anhidrosis10.0NTRK1
38peripheral neuropathy10.0NTRK1
39hypertension10.0DBH
40cocaine abuse10.0DBH
41paraganglioma10.0SYP
42polyneuropathy10.0HSPG2
43down syndrome10.0SNCA, FMR1
44hepatitis10.0DBH, HSPG2
45motor neuron disease10.0SNCA, BDNF
46breast cancer10.0NTRK1, SNCA
47nicotine dependence10.0NTRK2
48pick's disease10.0SNCA
49hereditary sensory neuropathy10.0NTRK1, NTRK2, IKBKAP
50frontotemporal dementia10.0SNCA

Graphical network of the top 20 diseases related to Dysautonomia:



Diseases related to dysautonomia

Clinical Features for Dysautonomia

Drugs & Therapeutics for Dysautonomia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Dysautonomia

Drug clinical trials:

Search ClinicalTrials for Dysautonomia

Search NIH Clinical Center for Dysautonomia

Search CenterWatch for Dysautonomia

Genetic Tests for Dysautonomia

Anatomical Context for Dysautonomia

Sources:
33MalaCards
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MalaCards organs/tissues related to Dysautonomia:

33
Skin, Liver, Tongue, Spinal cord, Brain, Kidney, Lung, Heart, Skeletal muscle, Small intestine, Colon, Salivary gland, Adrenal gland, T cells, B lymphoblasts, B cells, Thalamus, Dorsal root ganglion

Animal Models for Dysautonomia or affiliated genes

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

Publications for Dysautonomia

Sources:
51PubMed
See all sources

Articles related to Dysautonomia:

(show top 50)    (show all 524)
idTitleAuthorsYear
1
Hyperdopaminergic crises in familial dysautonomia: a randomized trial of carbidopa. (23553478)
2013
2
Cardiovascular dysautonomia in Parkinson disease: from pathophysiology to pathogenesis. (22094370)
2012
3
Case scenario: perioperative administration of tocotrienols and green tea extract in a child with familial dysautonomia. (22850346)
2012
4
Cardiovascular dysautonomia after seizures induced by maximal electroshock in Wistar rats. (22910632)
2012
5
Rapidly deteriorating parkinsonism and dysautonomia in patient with central pontine and extrapontine myelinolysis. (21353739)
2011
6
Limited atlantooccipital and cervical range of motion in patients with familial dysautonomia. (21633312)
2011
7
Beat-to-beat QT interval dynamics and variability in familial dysautonomia. (19915894)
2010
8
Joint hypermobility syndrome and dysautonomia: expanding spectrum of disease presentation and manifestation. (20376182)
2010
9
Chest computed tomography findings in familial dysautonomia patients: a model for aspiration. (19911488)
2009
10
Dysautonomia rating scales in Parkinson's disease: sialorrhea, dysphagia, and constipation--critique and recommendations by movement disorders task force on rating scales for Parkinson's disease. (19205066)
2009
11
Plasma catechols in familial dysautonomia: a long-term follow-up study. (18357519)
2008
12
Dysautonomia and Clinical Outcome in Vegetative State. (18771395)
2008
13
Cardiac denervation and dysautonomia in Parkinson's disease: a review of screening techniques. (18486523)
2008
14
Retraction. Cardiovascular dysautonomia in Parkinson's disease and multiple system atrophy. (18803758)
2008
15
Severe weight loss and hypermetabolic paroxysmal dysautonomia following hypoxic ischemic brain injury: the role of indirect calorimetry in the intensive care unit. (18443140)
2008
16
Progression of dysautonomia in multiple system atrophy: a prospective study of self-perceived impairment. (17222116)
2007
17
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. (17206408)
2007
18
Dysautonomia and ventricular dysfunction in the indeterminate form of Chagas disease. (16376440)
2006
19
Dysautonomia in fibromyalgia syndrome: sympathetic skin responses and RR interval analysis. (15988599)
2006
20
24-hour ambulatory blood pressure monitoring in children with familial dysautonomia. (15714311)
2005
21
Abomasal emptying defect of sheep may be an acquired form of dysautonomia. (15017030)
2004
22
Decreased density of ganglia and neurons in the myenteric plexus of familial dysautonomia patients. (15140612)
2004
23
Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews. (12885336)
2003
24
EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia. (14521957)
2003
25
Outbreak of dysautonomia (Key-Gaskell syndrome) in a closed colony of pet cats. (14567662)
2003
26
Valsalva maneuver suggests increased rigidity of cerebral resistance vessels in familial dysautonomia. (12420084)
2002
27
Cold pressor test demonstrates residual sympathetic cardiovascular activation in familial dysautonomia. (11959161)
2002
28
A case of chorea-acanthocytosis with dysautonomia; quantitative autonomic deficits using CASS. (12036185)
2002
29
Peripartum management of a patient with dopamine beta-hydroxylase deficiency, a rare congenital cause of dysautonomia. (12180590)
2002
30
Alpha-catulin maps to the familial dysautonomia region on 9q31. (11768226)
2001
31
Feline dysautonomia in a closed colony of pet cats. (11808672)
2001
32
Equine dysautonomia (grass sickness) is associated with altered plasma amino acid levels and depletion of plasma sulphur amino acids. (11558742)
2001
33
Index of suspicion. Case 3. Diagnosis: Riley-Day syndrome (familial dysautonomia [FD]). (10979825)
2000
34
Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia. (11029014)
2000
35
Dysautonomia in chronic fatigue syndrome vs. fibromyalgia. (11344862)
2000
36
Acute dysautonomia secondary to autoimmune diseases: efficacy of intravenous immunoglobulin and correlation with a stimulation of plasma norepinephrine levels. (10609075)
1999
37
Cardiac dysautonomia and pathogenesis of Chagas' heart disease. (9829323)
1998
38
Preliminary observations on the use of midodrine in treating orthostatic hypotension in familial dysautonomia. (8690848)
1995
39
Functional dysautonomia: a valid clinical entity or pseudo-science? (7849499)
1994
40
Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. (8102296)
1993
41
Maintained cellular function of adrenal medullary cells in parkinsonian dysautonomia. (1743539)
1991
42
Canine dysautonomia: a case report. (1866883)
1991
43
Traumatic granuloma of the tongue (Riga-Fede disease): association with familial dysautonomia. (1691779)
1990
44
Plasma norepinephrine in Chagas' cardioneuromyopathy: a marker of progressive dysautonomia. (2494874)
1989
45
Spine deformity in familial dysautonomia (Riley-Day syndrome). (3558801)
1987
46
Optic nerve dysfunction in familial dysautonomia. (3688106)
1987
47
Familial neuropathy with dementia, retinitis pigmentosa, and dysautonomia. (3860747)
1985
48
Reversible parasympathetic dysautonomia following stinging attributed to the box jelly fish (Chironex fleckeri). (6152151)
1984
49
Congenital dysautonomia with secretory diarrhea. (6578316)
1983
50
Dysautonomia in acute hemorrhagic conjunctivitis. (6674310)
1983

Genetic Variations for Dysautonomia

Expression for genes affiliated with Dysautonomia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Dysautonomia

Search GEO for disease gene expression data for Dysautonomia.

Pathways for genes affiliated with Dysautonomia

Sources:
54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN, 4Cell Signaling Technology
See all sources

Pathways related to Dysautonomia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2NTRK2, NTRK1
210.1NTRK2, NTRK1, BDNF
310.1BDNF, NTRK1, NTRK2
410.1NTRK2, NTRK1, BDNF
59.6DBH, NTRK2, NTRK1, SYP, SNCA, FMR1

Compounds for genes affiliated with Dysautonomia

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

Compounds related to Dysautonomia according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1forskolin45 50 1112.6NTRK2, DBH
2lestaurtinib45 6011.5NTRK2, NTRK1
3ana 126010.5BDNF, NTRK1, NTRK2
4tlqp 216010.5BDNF, NTRK1, NTRK2
5bdnf (human)6010.5BDNF, NTRK1, NTRK2
6gnf 58376010.5BDNF, NTRK1, NTRK2
77,8-dihydroxyflavone45 6011.5BDNF, NTRK1, NTRK2
8pilocarpine45 29 1112.5HSPG2, BDNF, NTRK2
9k252a4510.4NTRK2, NTRK1, BDNF
10n-acetylaspartate4510.4BDNF, SYP
116-hydroxydopamine4510.4DBH, SNCA, BDNF
12mptp4510.4DBH, SNCA, BDNF
13capsaicin45 2911.3NTRK1, S100A12, BDNF, HSPG2
14kainate45 2911.3HSPG2, BDNF, SYP, NTRK2
15silver4510.3SYP, SNCA, FMR1, BDNF
16ganglioside4510.3PRNP, SYP, NTRK1
17copper45 2411.3S100A12, SNCA, PRNP, DBH
18levodopa45 1111.2BDNF, SNCA, DBH
19catecholamine4510.2BDNF, SNCA, SYP, NTRK1, DBH
20gnrh4510.2DBH, NTRK2, NTRK1, BDNF, HSPG2
21melatonin45 60 29 11 2414.2SYP, SNCA, BDNF
22dopac4510.2DBH, BDNF
23phenylalanine4510.2DBH, NTRK2, NTRK1, BDNF
24acth4510.2BDNF, SYP, DBH, AAAS
25lithium45 50 11 2413.2BDNF, FMR1, SYP, NTRK2, DBH
26pd 98,0594510.2HSPG2, BDNF, NTRK1, NTRK2, DBH
27ethanol45 50 11 2413.2BDNF, SNCA, SYP, NTRK2, DBH
28pge24510.2HSPG2, SNCA, PRNP, NTRK2, DBH
29norepinephrine45 11 2412.1BDNF, SNCA, SYP, NTRK2, DBH
30nmda45 2911.1NTRK2, SYP, BDNF
31hydrogen45 2411.1BDNF, SNCA, PRNP, SYP, DBH
32choline45 11 2412.1DBH, HSPG2, BDNF, SNCA, SYP, NTRK1
33acetylcholine45 50 29 11 2414.1HSPG2, BDNF, SNCA, SYP, NTRK1, DBH
34adenylate4510.1DBH, NTRK1, SNCA, BDNF, HSPG2
35gaba4510.1HSPG2, BDNF, FMR1, SYP, NTRK2, DBH
36dopamine45 29 11 2413.1BDNF, SNCA, SYP, NTRK1, NTRK2, DBH
37histamine45 29 2412.0HSPG2, BDNF, SYP, DBH
38alanine4510.0HSPG2, SNCA, PRNP, NTRK1, NTRK2, DBH
39h2o24510.0HSPG2, SNCA, PRNP, SYP, NTRK1, NTRK2
40testosterone45 60 11 2413.0BDNF, FMR1, SNCA, SYP, NTRK1, NTRK2
41ly294002459.9NTRK2, NTRK1, BDNF, HSPG2
42mhpg459.9DBH, BDNF
43cyclic amp45 2410.9HSPG2, BDNF, FMR1, SYP, NTRK1, NTRK2
44oxygen45 2410.9BDNF, SNCA, PRNP, NTRK1, NTRK2, DBH
45lipid459.8BDNF, SNCA, PRNP, SYP, NTRK1, NTRK2
46glutamate459.7HSPG2, BDNF, FMR1, SNCA, PRNP, SYP
47cholesterol45 29 11 2412.7BDNF, SNCA, PRNP, SYP, NTRK2
48tyrosine459.6HSPG2, BDNF, STMN2, SNCA, PRNP, SYP
49serine459.5HSPG2, BDNF, STMN2, SNCA, PRNP, SYP
50calcium45 50 11 2412.4HSPG2, BDNF, FMR1, S100A12, SNCA, PRNP

GO Terms for genes affiliated with Dysautonomia

Sources:
16Gene Ontology
See all sources

Cellular components related to Dysautonomia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Elongator holoenzyme complexGO:03358810.3ELP3, IKBKAP
2presynaptic active zoneGO:04878610.2SYP, NTRK2
3excitatory synapseGO:06007610.2NTRK2, SYP
4growth coneGO:03042610.1NTRK2, SNCA, STMN2
5transcription elongation factor complexGO:00802310.0ELP3, IKBKAP
6DNA-directed RNA polymerase II, holoenzymeGO:0165919.8ELP3, IKBKAP
7cytoplasmGO:0057378.9BDNF, FMR1, S100A12, SNCA, PRNP, DBH

Biological processes related to Dysautonomia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1mechanoreceptor differentiationGO:04249010.3NTRK2, NTRK1, BDNF
2regulation of short-term neuronal synaptic plasticityGO:04817210.2SYP, BDNF
3learning or memoryGO:00761110.2NTRK1, PRNP, BDNF
4glutamate secretionGO:01404710.2NTRK2, BDNF
5negative regulation of microtubule polymerizationGO:03111510.1SNCA, STMN2
6negative regulation of neuron apoptotic processGO:04352410.1BDNF, SNCA, NTRK1, NTRK2
7positive regulation of neuron projection developmentGO:01097610.1STMN2, NTRK1, NTRK2
8agingGO:00756810.0SNCA, NTRK1, NTRK2
9positive regulation of synaptic transmission, glutamatergicGO:0519689.9NTRK2, NTRK1

Molecular functions related to Dysautonomia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphorylase kinase regulator activityGO:00860710.1ELP3, IKBKAP
2neurotrophin bindingGO:0431219.9NTRK2, NTRK1
3copper ion bindingGO:0055079.8DBH, PRNP, SNCA, S100A12

Products for genes affiliated with Dysautonomia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dysautonomia

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