MCID: DYS021
MIFTS: 38

Dysautonomia

Categories: Blood diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dysautonomia

MalaCards integrated aliases for Dysautonomia:

Name: Dysautonomia 53 29 54 6 70

Classifications:



External Ids:

UMLS 70 C0013363

Summaries for Dysautonomia

NINDS : 53 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 autonomic dysfunction and fatal familial insomnia. An important gene associated with Dysautonomia is USH2A (Usherin). The drugs Dopamine and Carbidopa have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and spinal cord.

Wikipedia : 73 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 421)
# Related Disease Score Top Affiliating Genes
1 autonomic dysfunction 31.4 USH2A SNCA CPT2
2 fatal familial insomnia 31.3 SNCA PRNP
3 multiple system atrophy 1 30.1 SNCA PRNP
4 tremor 29.7 SNCA DNAJC13
5 amyloidosis, hereditary, transthyretin-related 29.7 SNCA PRNP
6 encephalopathy 29.5 PRNP FRRS1L CPT2
7 chronic pain 29.5 USH2A CPT2
8 scrapie 29.0 SNCA PRNP
9 neuropathy, hereditary sensory and autonomic, type iii 11.9
10 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 11.4
11 insensitivity to pain, congenital, with anhidrosis 11.4
12 pure autonomic failure 11.3
13 hereditary sensory neuropathy 11.2
14 motor neuropathy, peripheral, with dysautonomia 11.1
15 acute cholinergic dysautonomia 11.1
16 dysautonomia-like disorder 11.1
17 autonomic nervous system disease 11.1
18 stuve-wiedemann syndrome 11.0
19 parkinson disease 1, autosomal dominant 11.0
20 nescav syndrome 11.0
21 parkinson disease, late-onset 10.9
22 neuropathy, hereditary sensory and autonomic, type vi 10.9
23 neuropathy, hereditary sensory and autonomic, type iia 10.9
24 primary orthostatic hypotension 10.9
25 achalasia-addisonianism-alacrima syndrome 10.9
26 autoimmune autonomic ganglionopathy 10.9
27 scoliosis, isolated 1 10.8
28 occipital horn syndrome 10.8
29 neurodegeneration with brain iron accumulation 3 10.8
30 rigidity and multifocal seizure syndrome, lethal neonatal 10.8
31 parkinson disease 23, autosomal recessive early-onset 10.8
32 autoimmune gastrointestinal dysmotility 10.8
33 morvan's fibrillary chorea 10.8
34 autonomic neuropathy 10.4
35 neuropathy 10.4
36 autosomal recessive disease 10.4
37 guillain-barre syndrome 10.4
38 constipation 10.3
39 syncope 10.3
40 sensory peripheral neuropathy 10.3
41 dysphagia 10.3
42 scoliosis 10.3
43 polyneuropathy 10.3
44 brain injury 10.3
45 traumatic brain injury 10.3
46 orthostatic intolerance 10.2
47 peripheral nervous system disease 10.2
48 ataxia and polyneuropathy, adult-onset 10.2
49 hypertensive nephropathy 10.2 ACTL7B ACTL7A
50 sleep apnea 10.2

Graphical network of the top 20 diseases related to Dysautonomia:



Diseases related to Dysautonomia

Symptoms & Phenotypes for Dysautonomia

Drugs & Therapeutics for Dysautonomia

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

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
2
Carbidopa Approved Phase 3 28860-95-9 34359
3
Ipratropium Approved, Experimental Phase 3 22254-24-6, 60205-81-4 43232 657309
4 Dopamine Agents Phase 3
5 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
6 Antiparkinson Agents Phase 3
7 Respiratory System Agents Phase 3
8 Pharmaceutical Solutions Phase 3
9 Anti-Asthmatic Agents Phase 3
10 Cholinergic Agents Phase 3
11 Cholinergic Antagonists Phase 3
12 Adrenergic Agonists Phase 3
13 Adrenergic beta-Agonists Phase 3
14 Anticonvulsants Phase 3
15 Adrenergic Agents Phase 3
16 Bromides Phase 3
17 Tocolytic Agents Phase 3
18 Albuterol Phase 3
19 Bronchodilator Agents Phase 3
20
Norepinephrine Approved Phase 2 51-41-2 439260
21
Baclofen Approved Phase 2 1134-47-0 2284
22 Immunologic Factors Phase 1, Phase 2
23 Rho(D) Immune Globulin Phase 1, Phase 2
24 Immunoglobulins Phase 1, Phase 2
25 Immunoglobulins, Intravenous Phase 1, Phase 2
26 Antibodies Phase 1, Phase 2
27 gamma-Globulins Phase 1, Phase 2
28 GABA Agonists Phase 2
29
Kinetin Approved Phase 1 525-79-1 3830
30
Bupivacaine Approved, Investigational Phase 1 38396-39-3, 2180-92-9 2474
31 Anesthetics Phase 1
32 Anesthetics, Local Phase 1
33
Nicotine Approved 54-11-5 942 89594
34
tannic acid Approved 1401-55-4
35
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
36 Hypoglycemic Agents
37 insulin
38 Insulin, Globin Zinc

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3 Carbidopa;Placebo
2 The Effects of Bronchodilator Therapy On Respiratory and Autonomic Function in Patients With Familial Dysautonomia Completed NCT01987219 Phase 3 Albuterol-sulphate;Ipratropium-bromide
3 Carbidopa in Familial Dysautonomia: Phase-II Study, Investigational New Drug (IND) 117435, Date: 01/07/13 Completed NCT02553265 Phase 2 Carbidopa Low Dose;Carbidopa High Dose
4 The Nutritional Supplement Phosphatidylserine in Patients With Familial Completed NCT02276716 Phase 2
5 IVIG (Gamunex-C) Study of Treatment for Autoimmune Neuropathic Dysautonomia/Postural Tachycardia (POTS) Enrolling by invitation NCT03919773 Phase 1, Phase 2 IVIG;Albumin
6 Early Treatment of Paroxysmal Dysautonomia and Hypertonia for Severe Brain Injured Patients by Intrathecal Baclofen Therapy Terminated NCT00221689 Phase 2 baclofen (drug)
7 The Safety , Tolerability and Efficacy of Dronabinol, a Synthetic Endocannabinoid Receptor Agonist, for the Treatment of Nausea and Vomiting in Patients With Familial Dysautonomia Withdrawn NCT02608931 Phase 2 Dronabinol
8 The Safety and Tolerability of Kinetin, a Nutritional Supplement That Corrects the Splicing Defect, in Patients With Familial Dysautonomia Completed NCT02274051 Phase 1
9 Prospective Single-Arm Pilot Study for CT-Guided, Temporary Celiac Ganglion Block as a Test Before Celiac Ganglion Resection for Dysautonomia-Related Bowel Dysmotility Recruiting NCT04121338 Phase 1 Liposomal bupivacaine
10 Autonomic Cardiovascular Neuropathy in Recently Diagnosed DM2 Patients and in Pre-Diabetes Patients Unknown status NCT02931773
11 Implementation of a Transdiagnostic Psychological Group Intervention for Pediatric Autonomic Dysfunction Completed NCT03185247
12 Study Title: Brain Transmitters/Metabolites, Magnetic Resonance Spectroscopy, and Brain Connectivity: Diagnostic Strategies to Study the Effects of Non-Pharmacologic Therapies for Dysautonomia and Chronic Nausea Completed NCT01692561
13 An Open-Label Pilot Trial of Cognitive Behavioral Therapy in Familial Dysautonomia Completed NCT03013777
14 Assessing the Outcomes of Web-based Pre-test Educational Module for Carrier Genetic Screening in Individuals of Ashkenazi Jewish Descent Completed NCT01999257
15 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia ("POTS" -- Postural Orthostatic Tachycardia Syndrome)Later in Life -- a Retrospective Analysis Completed NCT01367977
16 Testing for Dysautonomia in Patients Hospitalized for SARS-CoV-2 Infection (COVID-19) : COVIDANS Study Completed NCT04374045
17 Description of neurolOgical Involvement Observed During SARS COV2 Infection Recruiting NCT04460599
18 Insulin Resistance in Multiple System Atrophy Recruiting NCT04250493
19 Anomalies of Nocturnal Gaz Exchanges in Patients With Down Syndrome Aged From 4 to 16 Years Recruiting NCT03903666
20 Dysautonomia in Patients Post COVID-19 Infection Recruiting NCT04716465
21 Natural History of Familial Dysautonomia Recruiting NCT03920774
22 Renal Arterial Denervation in Sympathetic Dysautonomia: RANSOM REGISTRY Recruiting NCT04314557
23 Hypercapnia and Orthostatic Tolerance in Postural Orthostatic Tachycardia Syndrome Not yet recruiting NCT04271878
24 A Single-Blind Placebo-Controlled Telemedicine Clinical Trial for Cognitive Behavioral Therapy in Familial Dysautonomia Withdrawn NCT03911063

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:

40
Brain, Heart, Spinal Cord, Eye, Thyroid, Tongue, Bone

Publications for Dysautonomia

Articles related to Dysautonomia:

(show top 50) (show all 2341)
# Title Authors PMID Year
1
Hyposmia in pure autonomic failure. 54 61
19433741 2009
2
Pupil abnormalities in selected autonomic neuropathies. 61 54
16966943 2006
3
[The most common dysautonomias]. 61 54
12577222 2003
4
Peripartum management of a patient with dopamine beta-hydroxylase deficiency, a rare congenital cause of dysautonomia. 61 54
12180590 2002
5
Gerstmann-Sträussler-Scheinker syndrome,fatal familial insomnia, and kuru: a review of these less common human transmissible spongiform encephalopathies. 54 61
11535002 2001
6
The sympathetic skin response in peripheral autonomic failure--evaluation in pure failure, pure cholinergic dysautonomia and dopamine-beta-hydroxylase deficiency. 61 54
9651662 1998
7
[Peripheral neuropathy and dysautonomia in a patient with primary Sjögren's syndrome]. 61 54
9884552 1998
8
Fatal familial insomnia with a mutation at codon 178 of the prion protein gene: first report from Japan. 61 54
8909448 1996
9
Retrograde nerve growth factor signaling abnormalities and the pathogenesis of familial dysautonomia. 61
33510081 2021
10
Median Arcuate Ligament Syndrome with Orthostatic Intolerance: Intermediate-Term Outcomes following Surgical Intervention. 61
33338494 2021
11
Acute transverse myelitis with Dysautonomia following SARS-CoV-2 infection: A case report and review of literature. 61
33640717 2021
12
Cardiovascular and sudomotor dysfunction in Hirayama disease. 61
31833036 2021
13
Longitudinal changes in the macula and optic nerve in familial dysautonomia. 61
33180192 2021
14
Correction to: Longitudinal changes in the macula and optic nerve in familial dysautonomia. 61
33388930 2021
15
Multifactorial Characteristics of Pediatric Dizziness and Imbalance. 61
32809223 2021
16
Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction. 61
33647242 2021
17
TS-HDS and FGFR3 Antibodies in Small Fiber Neuropathy and Dysautonomia. 61
33792960 2021
18
When POTS is the tip of the iceberg: Rare cases of dysautonomia as a possible manifestation of another disorder. 61
33459162 2021
19
Association of fall risk factors and non-motor symptoms in patients with early Parkinson's disease. 61
33664423 2021
20
Non-motor complications in late stage Parkinson's disease: recognition, management and unmet needs. 61
33522312 2021
21
Impact of motor subtype on non-motor symptoms and fall-related features in patients with early Parkinson's disease. 61
33780137 2021
22
COVID-19, fatigue, and dysautonomia. 61
32975809 2021
23
Prevalence of autonomic nervous system dysfunction in complex regional pain syndrome. 61
33419877 2021
24
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. 61
32439808 2021
25
High fat high sucrose diet-induced dyslipidemia in guinea pigs. 61
33703947 2021
26
Characterization of cardiac autonomic function in COVID-19 using heart rate variability: a hospital based preliminary observational study. 61
33705614 2021
27
Autoimmune dysautonomia in women with silicone breast implants. 61
33799099 2021
28
Porphyric neuropathy. 61
33786855 2021
29
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature. 61
33305909 2021
30
Arterial Blood Pressure Variability and Other Vascular Factors Contribution to the Cognitive Decline in Parkinson's Disease. 61
33802165 2021
31
The Effect of Orthostatic Hypotension Detected Pre-Operatively on Post-Operative Outcome. 61
33314116 2021
32
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease. 61
33495376 2021
33
Midbrain atrophy related to parkinsonism in a non-coding repeat expansion disorder: five cases of spinocerebellar ataxia type 31 with nigrostriatal dopaminergic dysfunction. 61
33785066 2021
34
A Pounding Problem: A Case of Recurrent Headache Caused by Anti-NMDA Receptor Encephalitis. 61
32917451 2021
35
Sudomotor dysfunction in patients recovered from COVID-19. 61
33551341 2021
36
Cytoprotective activities of kinetin purine isosteres. 61
33497938 2021
37
Derivation of Peripheral Nociceptive, Mechanoreceptive, and Proprioceptive Sensory Neurons from the same Culture of Human Pluripotent Stem Cells. 61
33545066 2021
38
A comparison of health-related quality of life in autonomic disorders: postural tachycardia syndrome versus vasovagal syncope. 61
33550497 2021
39
Postural orthostatic tachycardia syndrome is associated with significant employment and economic loss. 61
33586284 2021
40
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor. 61
33728376 2021
41
Food protein-induced enterocolitis syndrome: Dynamic relationship among gastrointestinal symptoms, immune response, and the autonomic nervous system. 61
33582308 2021
42
CIDP associated with Sjögren's syndrome. 61
33611611 2021
43
Masquerading Guillain-Barré syndrome: uncommon, in-hospital presentation of Miller-Fisher syndrome shadowed by secondary diseases. 61
33541995 2021
44
Self-reported autonomic dysfunction in a recovery phase of Guillain-Barré syndrome. 61
33360355 2021
45
Clinical variables that help in predicting the presence of autoantibodies in patients with acute encephalitis. 61
33658153 2021
46
Clinical presentation of strokes confined to the insula: a systematic review of literature. 61
33575921 2021
47
gAChR antibodies in children and adolescents with acquired autoimmune dysautonomia in Japan. 61
33621398 2021
48
IgLON 5 Antibody Syndrome: Isolated Case of a Patient With Indolent Disease Progression and Unusual MRI Findings. 61
33754109 2021
49
Classic and overlapping Miller-Fisher syndrome: clinical and electrophysiological features in Mexican adults. 61
33594537 2021
50
Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM)-like Symptoms Associated with Anti-ganglionic Acetylcholine Receptor Antibodies. 61
33583893 2021

Variations for Dysautonomia

ClinVar genetic disease variations for Dysautonomia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPT2 NM_000098.3(CPT2):c.149C>A (p.Pro50His) SNV Pathogenic 8954 rs28936375 GRCh37: 1:53662764-53662764
GRCh38: 1:53197092-53197092
2 USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs) Deletion Pathogenic 2351 rs80338903 GRCh37: 1:216420437-216420437
GRCh38: 1:216247095-216247095
3 MYH8 , MYHAS NM_002472.3(MYH8):c.5743A>G (p.Ile1915Val) SNV Uncertain significance 598988 rs1216879928 GRCh37: 17:10293842-10293842
GRCh38: 17:10390525-10390525
4 USH2A-AS2 , USH2A NM_206933.3(USH2A):c.5003G>T (p.Gly1668Val) SNV Uncertain significance 598989 rs1265349835 GRCh37: 1:216258204-216258204
GRCh38: 1:216084862-216084862

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 9.16 SNCA PRNP
2 dynactin complex GO:0005869 8.96 ACTL7B ACTL7A
3 terminal bouton GO:0043195 8.8 USH2A SNCA PRNP

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

# Name GO ID Score Top Affiliating Genes
1 protein destabilization GO:0031648 9.26 SNCA PRNP
2 positive regulation of neuron death GO:1901216 9.16 SNCA PRNP
3 cellular response to copper ion GO:0071280 8.96 SNCA PRNP
4 regulation of glutamate receptor signaling pathway GO:1900449 8.62 PRNP FRRS1L

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

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 SNCA PRNP
2 cuprous ion binding GO:1903136 8.62 SNCA PRNP

Sources for Dysautonomia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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