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MCID: QDR001
MIFTS: 49

Quadriplegia

Categories: Neuronal diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Quadriplegia

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MalaCards integrated aliases for Quadriplegia:

Name: Quadriplegia 12 73 44 15 17 70
Tetraplegia 12 29 15
Tetraplegias 54

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:12835
ICD9CM 34 344.00
MeSH 44 D011782
NCIt 50 C50721
SNOMED-CT 67 11538006
ICD10 32 G82.5
UMLS 70 C0034372
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Summaries for Quadriplegia

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MalaCards based summary : Quadriplegia, also known as tetraplegia, is related to alternating hemiplegia of childhood 1 and spastic quadriplegia, and has symptoms including muscle weakness, ophthalmoplegia and hemiplegia. An important gene associated with Quadriplegia is ELOVL4 (ELOVL Fatty Acid Elongase 4), and among its related pathways/superpathways are Vesicle-mediated transport and Thyroid hormone signaling pathway. The drugs tannic acid and Midodrine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and tongue, and related phenotypes are Increased cell size and behavior/neurological

Wikipedia : 73 Tetraplegia, also known as quadriplegia, is paralysis caused by illness or injury that results in the... more...

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Related Diseases for Quadriplegia

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

(show top 50) (show all 499)
# Related Disease Score Top Affiliating Genes
1 alternating hemiplegia of childhood 1 31.9 ATP1A3 ATP1A2
2 spastic quadriplegia 31.4 WDR45B TBCC SPTAN1 SLC16A2 SEPSECS SEC31A
3 paraplegia 30.1 PLP1 AP4S1 AP4M1 AP4E1 AP4B1
4 spastic paraplegia 52, autosomal recessive 30.0 AP4S1 AP4M1 AP4E1 AP4B1
5 spastic cerebral palsy 29.8 SPTAN1 SLC16A2 PLP1 KANK1 ELOVL4 ARG1
6 speech disorder 29.5 SPTAN1 PIK3C2A AP4E1
7 cerebral palsy 28.9 PLP1 KANK1 AP4S1 AP4M1 AP4E1 AP4B1
8 spastic paraplegia 47, autosomal recessive 28.7 AP4S1 AP4M1 AP4E1 AP4B1
9 ap-4-associated hereditary spastic paraplegia 28.6 AP4S1 AP4M1 AP4E1 AP4B1
10 spastic paraplegia 50, autosomal recessive 28.4 AP4S1 AP4M1 AP4E1 AP4B1
11 spastic diplegia 28.0 SLC16A2 SEPSECS ARG1 AP4S1 AP4M1 AP4E1
12 hereditary spastic paraplegia 27.8 SPTAN1 SLC16A2 PLP1 AP4S1 AP4M1 AP4E1
13 ichthyosis, spastic quadriplegia, and mental retardation 11.5
14 spastic tetraplegia and axial hypotonia, progressive 11.5
15 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 11.4
16 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 11.4
17 microcephaly with spastic quadriplegia 11.2
18 pelizaeus-merzbacher disease 11.1
19 leukodystrophy, hypomyelinating, 6 11.1
20 spastic quadriplegia, retinitis pigmentosa, and mental retardation 11.0
21 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 11.0
22 spinal cord injury 11.0
23 developmental and epileptic encephalopathy 4 11.0
24 developmental and epileptic encephalopathy 5 11.0
25 alternating hemiplegia of childhood 2 11.0
26 developmental and epileptic encephalopathy 53 11.0
27 developmental and epileptic encephalopathy 55 11.0
28 8p inverted duplication/deletion syndrome 11.0
29 inherited congenital spastic tetraplegia 10.9
30 diencephalic-mesencephalic junction dysplasia syndrome 1 10.9
31 locked-in syndrome 10.9
32 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 10.9
33 congenital ichthyosis-microcephalus-tetraplegia syndrome 10.9
34 oculocerebral syndrome with hypopigmentation 10.9
35 hsd10 mitochondrial disease 10.9
36 cortical dysplasia, complex, with other brain malformations 4 10.9
37 diencephalic-mesencephalic junction dysplasia syndrome 2 10.9
38 developmental and epileptic encephalopathy 82 10.9
39 leukoencephalopathy, progressive, infantile-onset, with or without deafness 10.9
40 variegate porphyria 10.8
41 absent eyebrows and eyelashes with mental retardation 10.8
42 argininemia 10.8
43 farber lipogranulomatosis 10.8
44 mitochondrial complex ii deficiency, nuclear type 1 10.8
45 sulfite oxidase deficiency, isolated 10.8
46 allan-herndon-dudley syndrome 10.8
47 cerebral palsy, spastic quadriplegic, 2 10.8
48 asparagine synthetase deficiency 10.8
49 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 10.8
50 immunodeficiency 49 10.8

Graphical network of the top 20 diseases related to Quadriplegia:



Diseases related to Quadriplegia
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Symptoms & Phenotypes for Quadriplegia

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UMLS symptoms related to Quadriplegia:


muscle weakness; ophthalmoplegia; hemiplegia; quadriparesis; other quadriplegia

GenomeRNAi Phenotypes related to Quadriplegia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell size GR00098-A-4 8.8 AP4S1 ATP1A2 SPTAN1

MGI Mouse Phenotypes related to Quadriplegia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ALDH3A2 AP4B1 AP4E1 ATP1A2 ATP1A3 ELOVL4
2 homeostasis/metabolism MP:0005376 9.77 ALDH3A2 AP4E1 AP4M1 ARG1 ATP1A2 ATP1A3
3 nervous system MP:0003631 9.47 ALDH3A2 AP4B1 AP4E1 ARG1 ATP1A2 ATP1A3
Sources

Drugs & Therapeutics for Quadriplegia

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

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Midodrine Approved Phase 4 42794-76-3, 133163-28-7 4195
3
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
4
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
5 Anesthetics, General Phase 4
6 Omega 3 Fatty Acid Phase 4
7 Adrenergic alpha-Agonists Phase 4
8 Adrenergic Agonists Phase 4
9 Adrenergic Agents Phase 4
10 Sympathomimetics Phase 4
11 Neurotransmitter Agents Phase 4
12 Vasoconstrictor Agents Phase 4
13
Fenofibrate Approved Phase 2, Phase 3 49562-28-9 3339
14
Nitric Oxide Approved Phase 2, Phase 3 10102-43-9 145068
15
4-Aminopyridine Approved Phase 3 504-24-5 1727
16 Hypolipidemic Agents Phase 2, Phase 3
17 Antimetabolites Phase 2, Phase 3
18 Lipid Regulating Agents Phase 2, Phase 3
19 NG-Nitroarginine Methyl Ester Phase 2, Phase 3
20 Potassium Channel Blockers Phase 3
21
Arginine Investigational, Nutraceutical Phase 2, Phase 3 74-79-3 6322
22
Buspirone Approved, Investigational Phase 1, Phase 2 36505-84-7 2477
23 Psychotropic Drugs Phase 1, Phase 2
24 Anti-Anxiety Agents Phase 1, Phase 2
25 Serotonin Receptor Agonists Phase 1, Phase 2
26
Serotonin Investigational, Nutraceutical Phase 1, Phase 2 50-67-9 5202
27
Chlorhexidine Approved, Vet_approved Phase 1 55-56-1 9552079 2713
28 Anti-Asthmatic Agents Phase 1
29 Respiratory System Agents Phase 1
30 Cholinergic Agents Phase 1
31 Cholinergic Antagonists Phase 1
32 Bronchodilator Agents Phase 1
33
Salmeterol xinafoate Phase 1 94749-08-3 56801
34 Parasympatholytics Phase 1
35 Adrenergic beta-Agonists Phase 1
36 Bromides Phase 1
37 Tiotropium Bromide Phase 1 136310-93-5
38 Anesthetics Phase 1
39 Antioxidants Phase 1
40 Protective Agents Phase 1
41 Hemostatics Phase 1
42 Chlorhexidine gluconate Phase 1
43 Orange Approved
44
Ipratropium Approved, Experimental 22254-24-6, 60205-81-4 43232 657309
45 Papaya Approved
46
mometasone furoate Approved, Investigational, Vet_approved 83919-23-7
47
Enalapril Approved, Vet_approved 75847-73-3 5362032 40466924
48
Enalaprilat Approved 76420-72-9 6917719
49
Silicon Approved, Investigational 7440-21-3 4082203
50
Metronidazole Approved 443-48-1 4173

Interventional clinical trials:

(show top 50) (show all 138)
# Name Status NCT ID Phase Drugs
1 Early Nerve Reconstruction Approach in Tetraplegic Patients With Dysfunctional Upper Extremity: a Randomized Controlled Trial. Unknown status NCT01579604 Phase 4
2 A Longitudinal Clinical Feasibility Study to Evaluate the Psychological and Functional Effects of Using the Tobiiâ„¢ Eyegaze System by Inpatients With Tetraplegia Unknown status NCT01943656 Phase 4
3 Phrenic Reinnervation in Central Ventilatory Paralysis Due to Medullary Trauma With Phrenic Motoneuron Destruction Completed NCT01350297 Phase 4
4 Melatonin Replacement for Treatment of Sleep Disruption Completed NCT00507546 Phase 4 Ramelteon;Placebo
5 Core Temperature During Cold Exposure in Persons With Tetraplegia Completed NCT01822535 Phase 4 Midodrine hydrochloride
6 Omega-3 Supplementation to Increase HDL-c Levels in Those With Tetraplegia Completed NCT01896037 Phase 4
7 Thermoregulation and Cognition During Cool Ambient Exposure in Tetraplegia Recruiting NCT02379156 Phase 4 Midodrine Hydrochloride
8 Activity-Dependent Plasticity After Spinal Cord Injury Unknown status NCT00059553 Phase 2, Phase 3
9 An Open Label Safety and Efficacy Trial of Fenofibrate in Persons With SCI Completed NCT02455336 Phase 2, Phase 3 Fenofibrate
10 The Effect of Nitric Oxide on Pulmonary Resistances and Blood Pressure in Persons With Tetraplegia Completed NCT00753948 Phase 2, Phase 3 N-Nitro L-arginine-methylester (L-NAME)
11 Prevention of Low Blood Pressure in Persons With Tetraplegia Completed NCT00237770 Phase 2, Phase 3 N-Nitro L-arginine-methylester (L-NAME)
12 Evaluation of the Efficacy of "MEOPA" Used to Obtain Better ROM Immediately After Multilevel Surgery in Children With Spastic Diplegia, Quadriplegia or Hemiplegia. Completed NCT00632528 Phase 3 MEOPA;Medicinal air
13 Improving Hand Function in Chronic SCI With Combined Robotic Training and tDCS Completed NCT03555838 Phase 3
14 Outcome Evaluation of Exercise and Electrical Therapy for Quadriplegic Hand Function Completed NCT00656149 Phase 2, Phase 3
15 Quality of Life, Efficacy and Safety of High Doses of 4-aminopyridine in Patients With Clinically Complete Chronic Spinal Cord Injury: Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial Active, not recruiting NCT03899584 Phase 3 4-Aminopyridine;Placebo oral capsule
16 A Phase II/III, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study to Assess the Efficacy and Safety of Cethrin in Subjects With Acute Cervical Spinal Cord Injury Withdrawn NCT02053883 Phase 2, Phase 3 Cethrin (BA-210);Placebo
17 Randomised Open Study of the Efficiency and Tolerance of the Use of a Corset on the Respiratory Function of Spinal Cord Injury Patients Withdrawn NCT01569360 Phase 3
18 ASIA Motor, Functional and Health Related Quality of Life Outcome in Traumatic Central Cord Syndrome, a Prospective Randomized Study Unknown status NCT00475748 Phase 2
19 Electrical Stimulation Induced Lower Limb Exercise Capacity, Cardiorespiratory Response, Cardiovascular Risk Factors and Muscle Activity Patterns in Response to Robotic Assisted Treadmill Gait Training in Individuals With Complete Motor Spinal Cord Injury Completed NCT01349478 Phase 1, Phase 2
20 A Phase I/IIa Dose-Ranging Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of BA-210 and the Neurological Status of Patients Following Administration of a Single Extradural Application of Cethrin During Surgery for Acute Thoracic and Cervical Spinal Cord Injury Completed NCT00500812 Phase 1, Phase 2 Cethrin
21 Safety and Efficacy of L-NAME and Midodrine to Increase MAP in Persons With Tetraplegia Completed NCT00835224 Phase 2 L-NAME;Midodrine;Placebo
22 Enabling Forelimb Function With Agonist Drug and Epidural Stimulation in SCI Recruiting NCT02313194 Phase 1, Phase 2 Buspirone
23 Rehabilitation and Cortical Remodeling After Surgical Intervention for Spinal Cord Injury Active, not recruiting NCT04041063 Phase 2
24 A Phase II Multicenter, Randomized-Controlled Study to Evaluate the Safety and Efficacy of Autologous Incubated Macrophages for the Treatment of Patients With Complete Spinal Cord Injuries Suspended NCT00073853 Phase 2
25 Rehabilitation of the Lower Extremity With AMES Following Incomplete Spinal Cord Injury (SCI) Terminated NCT01498991 Phase 1, Phase 2
26 Effect of Two Different Air-stacking Techniques, Combined With Manually Assisted Cough, on Peak Cough Flow (PCF) in Patients With Acute Cervical or High Thoracic Spinal Cord Injury Withdrawn NCT01046175 Phase 2
27 Acute and Chronic Effects of an Anticholinergic Agent or a Long-Acting Beta 2 Agonist on Levels of Exhaled Nitric Oxide and Pulmonary Function in Persons With Tetraplegia Unknown status NCT01355991 Phase 1 Tiotropium;Salmeterol
28 The Role of Melatonin in the Regulation of Blood Coagulation Completed NCT01741389 Phase 1 Melatonin ("Circadin")
29 Use of Interactive Gaming After Spinal Cord Injury Completed NCT01537978 Phase 1
30 Development and Translational Assessment of a Tongue-Based Assistive Neuro-Technology for Individuals With Severe Neurological Disorders Completed NCT01124292 Phase 1
31 The Safety of Autologous Human Schwann Cells (ahSC) in Subjects With Chronic Spinal Cord Injury (SCI) Receiving Rehabilitation Completed NCT02354625 Phase 1
32 Improving Ambulatory Community Access After Paralysis Recruiting NCT01570816 Phase 1
33 Abdominal Functional Electrical Stimulation to Augment Breathing in Tetraplegia Unknown status NCT00202631
34 Early Intervention to Reduce Bone Loss After Spinal Cord Injury Unknown status NCT02334410
35 Reanimation in Tetraplegia Unknown status NCT01997125
36 A Clinical Observational Follow-up Study of European Pediatric Cases of Acute Flaccid Myelitis Associated With EV-D68 Infection. Unknown status NCT03499366
37 Clinical Evaluation of Brain-Computer Interface for Helping Communication of Quadriplegic Patients Unknown status NCT01707498
38 Body Composition Assessment in Spinal Cord Injury Unknown status NCT00957762
39 A Randomized, Crossover Clinical Trial of Exoskeletal-assisted Walking to Improve Mobility, Bowel Function and Cardio-Metabolic Profiles in Persons With SCI Unknown status NCT02314221
40 A Feasibility Study of the Ability of the Neural Prosthetic System to Provide Direct Brain Control of Extracorporeal Devices in Patients With Quadriplegia Due to High Spinal Cord Injury Completed NCT01849822
41 Restoring Arm and Hand Function With Non-invasive Spinal Stimulation Completed NCT01906424
42 Effects of a Single Exercise Session or Meal on Physical and Mental Health of People With Spinal Cord Injury: a Case Series Study Completed NCT03955523
43 A Feasibility Study for Daily Use of a Brain Computer Interface for Communication in an ICU Completed NCT01005524
44 Therapeutic Potential of Myofascial Structural Integration in Children With Cerebral Palsy Completed NCT01815814
45 Melatonin Secretion and Sleep Quality in Spinal Cord Injury Patients Completed NCT03167801
46 Functional Evaluation of the Recovery of Prehension in Quadriplegics by Implanted Neural Stimulation Completed NCT04306328
47 Intermittent Theta Burst Stimulation to Promote Motor Re-education After Upper Limb Reconstruction in Tetraplegia Completed NCT03277521
48 Prospective Study on Swallowing/Breathing Interactions in Severe Guillain Barre Syndrome. Completed NCT01024088
49 Acute Electrocorticography (ECoG) Direct Brain Interface for Individuals With Upper Limb Paralysis Completed NCT01393444
50 Effect of Heat Exposure on Cognition in Persons With Higher Cord Lesions Completed NCT02488824

Search NIH Clinical Center for Quadriplegia

Cochrane evidence based reviews: quadriplegia

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Genetic Tests for Quadriplegia

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Genetic tests related to Quadriplegia:

# Genetic test Affiliating Genes
1 Tetraplegia 29
Sources

Anatomical Context for Quadriplegia

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MalaCards organs/tissues related to Quadriplegia:

40
Spinal Cord, Brain, Tongue, Cortex, Bone, Heart, Thyroid
Sources

Publications for Quadriplegia

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Articles related to Quadriplegia:

(show top 50) (show all 5966)
# Title Authors PMID Year
1
Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients. 54 61
19197545 2009
2
[An autopsied case of schizophrenic patient who died from heat stroke]. 54 61
16780054 2006
3
[Clinical consequences of neuromuscular impairments in critically ill patients]. 54 61
16768037 2006
4
Adeno-associated virus vectors are able to restore fatty aldehyde dehydrogenase-deficiency. Implications for gene therapy in Sjogren-Larsson syndrome. 54 61
15834613 2005
5
Update on Sjögren-Larsson syndrome. 54 61
8884139 1996
6
[Etiological aspects of orthostatic hypotension]. 54 61
1344926 1992
7
Radiation-induced spinal cord glioblastoma subsequent to treatment of medulloblastoma: case report. 61
32700037 2021
8
A Post-Infectious Steroid-Responsive Brainstem Lesion Associated With COVID-19. 61
33791060 2021
9
Adult phenotype of KCNQ2 encephalopathy. 61
33811133 2021
10
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report. 61
33709034 2021
11
Transfer of the supinator nerve to the posterior interosseous nerve for hand opening in tetraplegia through an anterior approach. 61
33673745 2021
12
The association between economic indicators and the incidence of tetraplegia from traumatic spinal cord injury in Taiwan. 61
33731028 2021
13
Long-Term Follow-Up of Individuals with Ventilator Dependent High Tetraplegia Managed with Diaphragmatic Pacing Systems. 61
33766556 2021
14
Treatment of bilateral sacral insufficiency fractures with sacroplasty in a patient with motor complete tetraplegia. 61
33741891 2021
15
Surgical restoration of hand function in tetraplegia. 61
33741896 2021
16
Internal consistency and validity of the Italian version of the Jebsen-Taylor hand function test (JTHFT-IT) in people with tetraplegia. 61
33446935 2021
17
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families. 61
33756211 2021
18
Neurofascin antibodies in chronic inflammatory demyelinating polyradiculoneuropathy: from intrinsic genetic background to clinical manifestations. 61
33782779 2021
19
Subcortical Structure Disruption in Diffusion Tensor Tractography of the Patient With the Syndrome of Irreversible Lithium-Effectuated Neurotoxicity Combined With Neuroleptic Malignant Syndrome: A Case Report. 61
33560007 2021
20
Anesthetic Management of Patients Undergoing Open Suboccipital Surgery. 61
33563388 2021
21
Home Use of a Percutaneous Wireless Intracortical Brain-Computer Interface by Individuals With Tetraplegia. 61
33784612 2021
22
Neuroradiologic Features Associated With Severe Restriction of Functional Mobility in Children With Cerebral Palsy in North India. 61
33709827 2021
23
Degenerative cervical myelopathy. 61
33781560 2021
24
An unusual complication of quadriparesis after trigger point injection: a case report. 61
33009247 2021
25
3D-Printed Ostomy Flange Stabilizer. 61
33470607 2021
26
Postoperative cerebral air embolism with delayed abnormal brain MRI findings. 61
33392401 2021
27
Three-Year Longitudinal Motor Function and Disability Level of Acute Flaccid Myelitis. 61
33388543 2021
28
Epidemiology and clinical outcomes of spinal cord injuries at a level II trauma centre in Nigeria: a longitudinal five year study. 61
33443597 2021
29
Extended post-exercise hyperthermia in athletes with a spinal cord injury. 61
33773931 2021
30
An investigation into the validity and reliability of the Chinese version of Spinal Cord Independence Measure III (SCIM III). 61
33103924 2021
31
Predictors of Self-Efficacy Among People With Spinal Cord Injury During Inpatient Rehabilitation: A Cross-Sectional Study. 61
33555118 2021
32
Global and domain-specific life satisfaction among older adults with long-term spinal cord injury. 61
31099721 2021
33
Recurrent priapism in spinal cord injury: A case report. 61
31074709 2021
34
Substrate metabolism during recovery from circuit resistance exercise in persons with spinal cord injury. 61
33655367 2021
35
Use and evaluation of assistive technologies for upper limb function in tetraplegia. 61
33606599 2021
36
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. 61
32901138 2021
37
Surgical intervention for carpal tunnel syndrome in individuals with spinal cord injuries-patient characteristics, diagnostic considerations, and treatment outcomes. 61
33536426 2021
38
Factors associated with post-acute functional status and discharge dispositions in individuals with spinal cord injury. 61
33606613 2021
39
X-Linked Agammaglobulinemia With Chronic Meningoencephalitis: A Diagnostic Challenge. 61
33632949 2021
40
Transient total locked-in syndrome due to vertebral and basilar artery dissection. 61
33619135 2021
41
Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene. 61
32617873 2021
42
Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization. 61
33652762 2021
43
The role of thickness inhomogeneities in hierarchical cortical folding. 61
33548459 2021
44
How I do it: Selective dorsal rhizotomy, using interlaminar approaches, for spastic diplegia/quadriplegia in children with cerebral palsy. 61
33624116 2021
45
Rodent bites in a quadriplegic. 61
33541246 2021
46
Impact of intravenous lidocaine on clinical outcomes of patients with ARDS during COVID-19 pandemia (LidoCovid): A structured summary of a study protocol for a randomised controlled trial. 61
33573681 2021
47
Causes, functional outcomes and healthcare utilisation of people with cerebral palsy in Singapore. 61
33733253 2021
48
Trends observed in bilateral cerebral palsy during a thirty-year period: A cohort study with an ICF-based overview. 61
33663988 2021
49
A clinical characteristic analysis of five cases of rare bilateral cerebral peduncular infarction (BCPI) with the 'Mickey Mouse ears' sign. 61
33560892 2021
50
Atypical HIV-vacuolar myelopathy: a case report. 61
33522960 2021
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Variations for Quadriplegia

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Expression for Quadriplegia

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Search GEO for disease gene expression data for Quadriplegia.
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Pathways for Quadriplegia

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Pathways related to Quadriplegia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Vesicle-mediated transport 65
Show member pathways
 12.8 SPTAN1 SEC31A PIK3C2A AP4S1 AP4M1 AP4E1
2
Thyroid hormone signaling pathway 36
11.52 SLC16A2 ATP1A3 ATP1A2
3
Clathrin derived vesicle budding 65
Show member pathways
 11.4 PIK3C2A AP4S1 AP4M1 AP4E1 AP4B1
4
Lysosome 36
11.36 AP4S1 AP4M1 AP4E1 AP4B1
5
Proximal tubule bicarbonate reclamation 36
10.68 ATP1A3 ATP1A2
Sources

GO Terms for Quadriplegia

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.16 SPTAN1 SLC16A2 SEC31A PLP1 PIK3C2A MOG
2 intracellular membrane-bounded organelle GO:0043231 9.88 SPTAN1 SEC31A PIK3C2A AP4S1 AP4M1 ALDH3A2
3 organelle membrane GO:0031090 9.61 ATP1A3 ATP1A2 ALDH3A2
4 trans-Golgi network membrane GO:0032588 9.46 AP4S1 AP4M1 AP4E1 AP4B1
5 clathrin adaptor complex GO:0030131 9.37 AP4M1 AP4B1
6 sodium:potassium-exchanging ATPase complex GO:0005890 9.32 ATP1A3 ATP1A2
7 endosome lumen GO:0031904 9.26 AP4S1 AP4M1 AP4E1 AP4B1
8 AP-4 adaptor complex GO:0030124 8.92 AP4S1 AP4M1 AP4E1 AP4B1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.89 SEC31A AP4S1 AP4M1 AP4E1 AP4B1
2 intracellular protein transport GO:0006886 9.65 SEC31A AP4S1 AP4M1 AP4E1 AP4B1
3 vesicle-mediated transport GO:0016192 9.55 SEC31A AP4S1 AP4M1 AP4E1 AP4B1
4 cellular sodium ion homeostasis GO:0006883 9.51 ATP1A3 ATP1A2
5 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.48 ATP1A3 ATP1A2
6 sodium ion export across plasma membrane GO:0036376 9.46 ATP1A3 ATP1A2
7 cellular potassium ion homeostasis GO:0030007 9.43 ATP1A3 ATP1A2
8 cellular response to steroid hormone stimulus GO:0071383 9.4 ATP1A3 ATP1A2
9 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.37 ATP1A3 ATP1A2
10 response to glycoside GO:1903416 9.32 ATP1A3 ATP1A2
11 protein localization GO:0008104 9.26 AP4S1 AP4M1 AP4E1 AP4B1
12 protein targeting GO:0006605 8.92 AP4S1 AP4M1 AP4E1 AP4B1

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

# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.43 TBCC ATP1A3 ATP1A2
2 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 ATP1A3 ATP1A2
3 potassium-transporting ATPase activity GO:0008556 8.96 ATP1A3 ATP1A2
4 steroid hormone binding GO:1990239 8.62 ATP1A3 ATP1A2
Sources

Sources for Quadriplegia

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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