MCID: DYS021
MIFTS: 45

Dysautonomia

Categories: Blood diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dysautonomia

MalaCards integrated aliases for Dysautonomia:

Name: Dysautonomia 54 29 55 6 73

Classifications:



External Ids:

UMLS 73 C0013363

Summaries for Dysautonomia

NINDS : 54 Dysautonomia refers to a disorder of autonomic nervous system (ANS) function that generally involves failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia involving excessive or overactive ANS actions 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 is related to neuropathy, hereditary sensory and autonomic, type iii and parkinson disease, late-onset. An important gene associated with Dysautonomia is ELP1 (Elongator Complex Protein 1), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Neuroscience. The drugs Risperidone and Zolpidem have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and testes, and related phenotypes are no phenotypic analysis and skeleton

Wikipedia : 76 Dysautonomia or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does... more...

Related Diseases for Dysautonomia

Diseases in the Dysautonomia family:

Dysautonomia-Like Disorder

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

(show top 50) (show all 199)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory and autonomic, type iii 34.0 ACTL7B ELP1
2 parkinson disease, late-onset 31.5 PRKN SNCA SNCAIP
3 multiple system atrophy 1 30.1 PRKN SNCA
4 movement disease 29.6 PRKN SNCA
5 supranuclear palsy, progressive, 1 29.5 PRKN SNCA
6 synucleinopathy 29.4 PRKN SNCA SNCAIP
7 dementia 29.1 PRKN PRNP SNCA SNCAIP
8 dysautonomia-like disorder 12.2
9 motor neuropathy, peripheral, with dysautonomia 12.1
10 acute cholinergic dysautonomia 12.1
11 pure autonomic failure 11.9
12 hereditary sensory neuropathy 11.8
13 insensitivity to pain, congenital, with anhidrosis 11.8
14 stuve-wiedemann syndrome 11.4
15 fatal familial insomnia 11.3
16 autonomic nervous system disease 11.2
17 parkinson disease 1, autosomal dominant 11.1
18 neuropathy, hereditary sensory and autonomic, type vi 11.0
19 scoliosis, isolated 1 11.0
20 rigidity and multifocal seizure syndrome, lethal neonatal 11.0
21 parkinson disease 23, autosomal recessive early-onset 11.0
22 autoimmune autonomic ganglionopathy 11.0
23 autoimmune gastrointestinal dysmotility 11.0
24 primary orthostatic hypotension 11.0
25 postural hypotension 11.0
26 neuropathy 10.3
27 brain injury 10.3
28 traumatic brain injury 10.2
29 fibromyalgia 10.1
30 autonomic neuropathy 10.1
31 parkinson disease 10 10.0 PRKN SNCA
32 parkinson disease 15, autosomal recessive early-onset 10.0 PRKN SNCA
33 early-onset parkinson's disease 10.0 PRKN SNCA
34 parkinson disease 2, autosomal recessive juvenile 10.0 PRKN SNCA
35 orthostatic intolerance 10.0
36 sleep apnea 10.0
37 polyneuropathy 10.0
38 myopathy 10.0
39 aphasia 10.0 PRNP SNCA
40 toxic encephalopathy 10.0 PRNP SNCA
41 gaucher's disease 10.0 PRKN SNCA
42 diabetes mellitus 10.0
43 syncope 10.0
44 tremor 10.0 PRKN SNCA
45 leukoencephalopathy, hereditary diffuse, with spheroids 10.0 PRNP SNCA
46 essential tremor 9.9 PRKN SNCA
47 pheochromocytoma 9.9
48 autism 9.9
49 myasthenia gravis 9.9
50 rett syndrome 9.9

Graphical network of the top 20 diseases related to Dysautonomia:



Diseases related to Dysautonomia

Symptoms & Phenotypes for Dysautonomia

MGI Mouse Phenotypes related to Dysautonomia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.26 ELP1 PRKN PRNP SNCA
2 skeleton MP:0005390 9.02 ELP1 LIFR PRKN PRNP SNCA

Drugs & Therapeutics for Dysautonomia

Drugs for Dysautonomia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 515)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
2
Zolpidem Approved Phase 4,Not Applicable 82626-48-0 5732
3
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-61-6, 62-31-7 681
4
Midodrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 133163-28-7, 42794-76-3 4195
5
Acetylcholine Approved Phase 4,Not Applicable,Early Phase 1 51-84-3 187
6
Lidocaine Approved, Vet_approved Phase 4,Not Applicable,Early Phase 1 137-58-6 3676
7
Norepinephrine Approved Phase 4,Phase 2,Phase 1,Not Applicable 51-41-2 439260
8
Metoprolol Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 37350-58-6, 51384-51-1 4171
9
Bupivacaine Approved, Investigational Phase 4,Phase 3,Not Applicable 2180-92-9, 38396-39-3 2474
10
Triamcinolone Approved, Vet_approved Phase 4,Phase 3 124-94-7 31307
11
Levodopa Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 59-92-7 6047
12
Propranolol Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1 525-66-6 4946
13 tannic acid Approved Phase 4,Phase 2,Phase 3,Not Applicable
14
Benzocaine Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 94-09-7, 1994-09-7 2337
15
Rotigotine Approved Phase 4 99755-59-6, 92206-54-7 57537
16
Acetylcarnitine Approved, Investigational Phase 4,Phase 3 3040-38-8 1
17
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
18
Bisoprolol Approved Phase 4 66722-44-9 2405
19
Furosemide Approved, Vet_approved Phase 4,Not Applicable 54-31-9 3440
20
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
21
Indapamide Approved Phase 4 26807-65-8 3702
22
Fludrocortisone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 127-31-1 31378
23
Gabapentin Approved, Investigational Phase 4,Not Applicable 60142-96-3 3446
24
gamma-Aminobutyric acid Approved, Investigational Phase 4,Not Applicable 56-12-2 119
25
Droxidopa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 23651-95-8 443940
26
Pseudoephedrine Approved Phase 4,Phase 1,Not Applicable,Early Phase 1 90-82-4 7028
27
Phenylephrine Approved Phase 4,Phase 1,Not Applicable,Early Phase 1 59-42-7 6041
28
Oxymetazoline Approved, Investigational Phase 4,Phase 1,Not Applicable,Early Phase 1 1491-59-4 4636
29
Tamsulosin Approved, Investigational Phase 4,Phase 1,Not Applicable 106133-20-4 129211
30
Ephedrine Approved Phase 4,Phase 1,Not Applicable,Early Phase 1 299-42-3 9294
31
Metronidazole Approved Phase 4 443-48-1 4173
32
Naloxone Approved, Vet_approved Phase 4,Phase 2 465-65-6 5284596
33
Diazoxide Approved Phase 4 364-98-7 3019
34
Vitamin C Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 50-81-7 5785 54670067
35
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
36
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 1406-16-2
37
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
38 GABA-A Receptor Agonists Phase 4
39 GABA Agonists Phase 4
40 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
41 Dopamine Antagonists Phase 4,Phase 3,Phase 1
42 Antipsychotic Agents Phase 4,Phase 3,Not Applicable
43 Hypnotics and Sedatives Phase 4,Phase 1,Early Phase 1,Not Applicable
44 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
45 Serotonin Antagonists Phase 4
46 Serotonin Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
47 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
48 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
49 GABA Agents Phase 4,Early Phase 1,Not Applicable
50 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 578)
# Name Status NCT ID Phase Drugs
1 Risperidone and Zotepine in the Treatment of Delirium Unknown status NCT00622011 Phase 4 Risperidone and Zolpidem for delirium
2 Closed Loop Stimulation for Neuromediated Syncope (SPAIN Study) Unknown status NCT01621464 Phase 4
3 Assessment of Midodrine in the Prevention of Vasovagal Syncope: The Prevention of Syncope Trial IV Unknown status NCT01456481 Phase 4 midodrine hydrochloride;matching placebo
4 Botulinum A Toxin in Patients With Parkinson's Disease Unknown status NCT00822913 Phase 4 Intravesical injection of Botulinum A toxin
5 Botox for Neurogenic Detrusor Overactivity and the Prevention of Autonomic Dysreflexia Following SCI Unknown status NCT02298660 Phase 4 BOTOX
6 Duodenal Levodopa Infusion, Quality of Life and Autonomic Nervous System in Parkinson's Disease Completed NCT00914134 Phase 4 Levodopa infusion
7 Heart Rate Variability in Fibromyalgia - Effects of Strengthening Exercises Completed NCT02004405 Phase 4
8 Using Propranolol in Traumatic Brain Injury to Reduce Sympathetic Storm Phenomenon Completed NCT03401515 Phase 4 Propranolol Hydrochloride 1 MG/ML
9 Effect of Rotigotine Patch Treatment on Cardiovascular Markers in Idiopathic Restless Legs Syndrome Completed NCT01823770 Phase 4 Rotigotine;Placebo patchs
10 MP Diagnostics HTLV Blot 2.4 Post-Market Clinical Study Completed NCT03226119 Phase 4
11 Propranolol to Treat Fainting Due to Sympathoadrenal Imbalance Completed NCT00060866 Phase 4 Propranolol
12 Sympathetic Heart Innervation in Patients With Tako-Tsubo Cardiomyopathy Completed NCT01524861 Phase 4 Placebo;alpha-lipoic acid;L-acetyl carnitine
13 Prophylactic Administration of Vitamin C in Wrist Fractures Completed NCT00296868 Phase 4 ascorbic acid (vitamin C) versus placebo
14 Effects of DPP4 Inhibitor Versus SGLT2 Inhibitor Completed NCT03178591 Phase 4 vildagliptin;Dapagliflozin
15 Treatment and Prognosis of Neurogenic Orthostatic Hypotension : A Prospective Randomized Study Completed NCT02308124 Phase 4 Midodrine;Pyridostigmine Bromide;Midodrine + pyridostigmine
16 Tilt-Table Study of the Clinical Efficacy of Midodrine in Symptomatic Orthostatic Hypotension Completed NCT01518946 Phase 4 Midodrine HCl;Placebo
17 Clinical Efficacy of Midodrine in Symptomatic Orthostatic Hypotension Completed NCT01515865 Phase 4 Midodrine HCl;Placebo
18 Study to Assess the Benefit of Midodrine in the Treatment of Patients With Neurogenic Orthostatic Hypotension Completed NCT00555880 Phase 4 Midodrine hydrochloride;Placebo
19 A Study for Patients With Neurogenic Orthostatic Hypotension Completed NCT00046475 Phase 4 Midodrine Hydrochloride
20 Effect of Medical Treatment and Prognosis of Postural Orthostatic Tachycardia Syndrome (POTS) Completed NCT02171988 Phase 4 Propranolol;Bisoprolol;Propranolol+pyridostigmine;Bisoprolol+pyridostgmine
21 Renal Denervation in Diabetic Nephropathy Completed NCT01588795 Phase 4 Standardized antiproteinuric medication regimen includes an angiotensin receptor blocker , a diuretic , 25OH vitamin D3 and a statin
22 Clinical Trial for the Prevention of Vasovagal Syncope Completed NCT00118482 Phase 4 fludrocortisone acetate
23 Restore Claims Characterization Study Completed NCT00200122 Phase 4
24 High Frequency Stimulation Trials in Patients With Precision Spinal Cord Stimulator System Completed NCT02265848 Phase 4
25 A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4 Placebo Capsules + Placebo Patch;Placebo capsules + Lidoderm®;Gabapentin + Placebo;Gabapentin + Lidoderm®;Gabapentin 300 mg capsules 1800 mg/day + placebo patch;Gabapentin 1800 mg/day + Lidoderm patch
26 Effectiveness of Saccharomyces Boulardii for Gastrointestinal Bacterial-overgrowth in Systemic Sclerosis Recruiting NCT03692299 Phase 4 Saccharomyces Boulardii Oral Tablet;Metronidazole
27 Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension Recruiting NCT02586623 Phase 4 Droxidopa capsules;Placebo capsules
28 Efficacy and Safety of Midodrine and Atomoxetine for Neurogenic OH Recruiting NCT03350659 Phase 4 Midodrine;Atomoxetine
29 Dawn Simulation and Postural Hypotension Recruiting NCT02632318 Phase 4
30 Novel Approach for the Prevention of Hypoglycemia Associated Autonomic Failure (HAAF) Recruiting NCT03608163 Phase 4 Naloxone;Diazoxide;Placebo (for Naloxone);Placebo (for Diazoxide)
31 Dose Response to the Norepinephrine Precursor Droxidopa in Hypotensive Individuals With Spinal Cord Injury Recruiting NCT03602014 Phase 4 Northera
32 Brain Perfusion & Oxygenation in Parkinson's Disease With NOH Recruiting NCT03229174 Phase 4 Droxidopa;Placebo
33 Assessment of Metoprolol in the Prevention of Vasovagal Syncope in Aging Subjects Recruiting NCT02123056 Phase 4 Metoprolol;Matching Placebo
34 Tolerability of Suprascapular and Median Nerve Blocks for the Treatment of Shoulder-hand Syndrome Recruiting NCT03291197 Phase 4 Suprascapular and median nerve blocks
35 Exploration of Pupil Dilation in Horner's Patients Taking Flomax Recruiting NCT03615508 Phase 4 10% phenylephrine
36 Rotigotine Effect on Nocturnal Hypokinesia Compares to Placebo Control: A Quantitative Assessment by Wearable Sensors Active, not recruiting NCT03098368 Phase 4 Rotigotine;Placebo
37 A Phase IV Study in Subjects With Neurogenic Orthostatic Hypotension Terminated NCT00046163 Phase 4 midodrine hydrochloride (ProAmatine®)
38 Clinical Trial on the Effectiveness of Traditional Chinese Medicinal Mixture in Parkinson Disease Unknown status NCT00629161 Phase 2, Phase 3 Traditional Chinese Medicinal Mixture (composed of Roucongrong and adjuvant);placebo
39 Surgical Treatment Of Complex Regional Pain Syndrome Type II (CRPS II) Unknown status NCT01392599 Phase 3
40 Role of Vitamin C at 6 Months on Incidence of Complex Regional Pain Syndrome Type I in Upper Limb Surgery Unknown status NCT02390505 Phase 3 Vitamin C;Placebo
41 Acupuncture for Post-stroke Shoulder-hand Syndrome Unknown status NCT02011854 Phase 2, Phase 3
42 RCT :Thoracic Sympathetic Block for the Treatment of Complex Regional Pain Syndrome I of the Upper Limb Unknown status NCT01612364 Phase 3
43 Analysis of Photoplethysmographic Signal in Lumbar Sympathetic Block Unknown status NCT01134289 Phase 3
44 Intravenous Immunoglobulins in Complex-regional Pain Syndrome Unknown status NCT00949065 Phase 3
45 The Effects Of Bronchodilator Therapy On Respiratory And Autonomic Function In Patients With Familial Dysautonomia Completed NCT01987219 Phase 3 Albuterol-sulphate;Ipratropium-bromide
46 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3 Carbidopa;Placebo
47 Clinical Trial to Measure the Maximun HR After ReConnect ® Supplementation vs. Placebo in CFS. Completed NCT02063126 Phase 2, Phase 3
48 Clinical Study on Acetyl-L-Carnitine Completed NCT01526564 Phase 3 Acetylcarnitine;Placebo
49 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
50 The Effect of Diet on Chronic Inflammation and Related Disorders Following Spinal Cord Injury Completed NCT02099890 Phase 3

Search NIH Clinical Center for Dysautonomia

Genetic Tests for Dysautonomia

Genetic tests related to Dysautonomia:

# Genetic test Affiliating Genes
1 Dysautonomia 29

Anatomical Context for Dysautonomia

MalaCards organs/tissues related to Dysautonomia:

41
Brain, Heart, Testes, Spinal Cord, Liver, Lung, Skin

Publications for Dysautonomia

Articles related to Dysautonomia:

(show top 50) (show all 840)
# Title Authors Year
1
Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia. ( 29680425 )
2018
2
Neurogenic dysphagia with undigested macaroni and megaesophagus in familial dysautonomia. ( 29196937 )
2018
3
A Controlled Trial of Inhaled Bronchodilators in Familial Dysautonomia. ( 29234869 )
2018
4
Severe dysautonomia as a main feature of anti-GAD encephalitis: Report of a paediatric case and literature review. ( 29370977 )
2018
5
Dysautonomia in the pathogenesis of migraine. ( 29212396 )
2018
6
Ambulatory blood pressure profiles in familial dysautonomia. ( 29435868 )
2018
7
Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model. ( 29701768 )
2018
8
Development of a clinical prediction score for detection of suspected cases of equine grass sickness (dysautonomia) in France. ( 29204821 )
2018
9
Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice. ( 29672717 )
2018
10
Characteristics of ataxic gait in familial dysautonomia patients. ( 29698477 )
2018
11
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells. ( 29762696 )
2018
12
Equine Dysautonomia. ( 29398183 )
2018
13
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2. ( 29533949 )
2018
14
Genetic Polymorphisms in the ESR1 and VDR Genes Do Not Correlate With Osteoporosis in Patients With Familial Dysautonomia. ( 28161223 )
2018
15
Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia. ( 29929962 )
2018
16
A Case Report of Pediatric Paraneoplastic Dysautonomia. ( 30045352 )
2018
17
Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations. ( 30053970 )
2018
18
Reverse blood pressure dipping as marker of dysautonomia in Parkinson disease. ( 30057156 )
2018
19
Case Series: Management of Neurotrophic Keratitis from Familial Dysautonomia. ( 30063663 )
2018
20
Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia. ( 30085848 )
2018
21
Sympathetic Dysautonomia in Heart Failure by 123I-MIBG: comparison between Chagasic, non-Chagasic and heart transplant patients. ( 30088556 )
2018
22
Early Screening of Hypertension and Cardiac Dysautonomia in Each Hypertensive is Needed-inference from a Study of QTc Interval in Gujarat, India. ( 30123436 )
2018
23
Dysautonomia in Childhood Cancer Survivors: A Widely Underestimated Risk. ( 30136876 )
2018
24
Dopamine transporter availability reflects gastrointestinal dysautonomia in early Parkinson disease. ( 30146185 )
2018
25
Ganglion Cytology: A Novel Rapid Method for the Diagnosis of Equine Dysautonomia. ( 30286693 )
2018
26
Resting Energy Expenditure in Patients with Familial Dysautonomia: A Preliminary Study. ( 30334929 )
2018
27
Pediatric dysautonomia: Much-maligned, often overmedicated, but not as complex as you think. ( 30485656 )
2018
28
The Light at the End of the Tunnel: A Case of Dysautonomia Associated With Melkersson-Rosenthal Syndrome ( 30520282 )
2018
29
Depression and cardiac dysautonomia in eating disorders. ( 28244034 )
2017
30
Intranasal dexmedetomidine for adrenergic crisis in familial dysautonomia. ( 28674865 )
2017
31
The familial dysautonomia disease gene<i>IKBKAP</i>is required in the developing and adult mouse central nervous system. ( 28167615 )
2017
32
Methotrexate-induced dysautonomia in a patient with rheumatoid arthritis. ( 28398506 )
2017
33
RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia. ( 28592461 )
2017
34
Pyridoxine Toxicity Small Fiber Neuropathy With Dysautonomia: A Case Report. ( 28827489 )
2017
35
<i>IKBKAP/ELP1</i> gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. ( 29290691 )
2017
36
Ipilimumab-induced Guillain-BarrAc Syndrome Presenting as Dysautonomia: An Unusual Presentation of a Rare Complication of Immunotherapy. ( 28452849 )
2017
37
Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study. ( 28521050 )
2017
38
Alterations in amino acid status in cats with feline dysautonomia. ( 28333983 )
2017
39
Response Letter to 'Optimising physiology for adolescents with dysautonomia'. ( 28906019 )
2017
40
Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia. ( 29289840 )
2017
41
Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion. ( 28413125 )
2017
42
Calming the Storm: Dysautonomia for the Pediatrician. ( 28716515 )
2017
43
Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia. ( 28395083 )
2017
44
Optimising physiology for adolescents with dysautonomia. ( 28477426 )
2017
45
Animal and cellular models of familial dysautonomia. ( 28667575 )
2017
46
Pure autonomic failure versus prodromal dysautonomia in Parkinsona89s disease: Insights from the bedside. ( 28164144 )
2017
47
Familial dysautonomia: a disease with hidden tears. ( 28401297 )
2017
48
Partial dysautonomia: An interesting presentation. ( 28749384 )
2017
49
BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia. ( 28439028 )
2017
50
Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia. ( 28404519 )
2017

Variations for Dysautonomia

Expression for Dysautonomia

Search GEO for disease gene expression data for Dysautonomia.

Pathways for Dysautonomia

GO Terms for Dysautonomia

Cellular components related to Dysautonomia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inclusion body GO:0016234 8.62 PRNP SNCA

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.61 PRKN SNCA SNCAIP
2 negative regulation of neuron death GO:1901215 9.52 PRKN SNCA
3 adult locomotory behavior GO:0008344 9.51 PRKN SNCA
4 negative regulation of protein phosphorylation GO:0001933 9.5 PRKN PRNP SNCA
5 positive regulation of neuron death GO:1901216 9.49 PRNP SNCA
6 regulation of dopamine secretion GO:0014059 9.48 PRKN SNCA
7 cellular response to copper ion GO:0071280 9.46 PRNP SNCA
8 regulation of reactive oxygen species metabolic process GO:2000377 9.4 PRKN SNCA
9 synaptic transmission, dopaminergic GO:0001963 9.37 PRKN SNCA
10 protein destabilization GO:0031648 9.33 PRKN PRNP SNCA
11 dopamine uptake involved in synaptic transmission GO:0051583 9.26 PRKN SNCA
12 regulation of neurotransmitter secretion GO:0046928 9.13 PRKN SNCA SNCAIP
13 dopamine metabolic process GO:0042417 8.8 PRKN SNCA SNCAIP

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.56 PRKN PRNP SNCA SNCAIP
2 chaperone binding GO:0051087 9.4 PRKN PRNP
3 copper ion binding GO:0005507 9.37 PRNP SNCA
4 tubulin binding GO:0015631 9.32 PRKN PRNP
5 Hsp70 protein binding GO:0030544 9.16 PRKN SNCA
6 phospholipase binding GO:0043274 8.96 PRKN SNCA
7 cuprous ion binding GO:1903136 8.62 PRNP SNCA

Sources for Dysautonomia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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