MCID: PRP016
MIFTS: 52

Paraplegia

Categories: Neuronal diseases, Rare diseases
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Aliases & Classifications for Paraplegia

MalaCards integrated aliases for Paraplegia:

Name: Paraplegia 11 19 75 43 14 16 71
Severe or Complete Loss of Motor Function in the Lower Extremities and Lower Portions of the Trunk 19
Paraplegia, Lower 11

Classifications:



External Ids:

Disease Ontology 11 DOID:607
ICD9CM 34 344.1
MeSH 43 D010264
NCIt 49 C50687
SNOMED-CT 68 155031004
ICD10 31 G82.2
UMLS 71 C0030486

Summaries for Paraplegia

GARD: 19 Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord.

MalaCards based summary: Paraplegia, also known as severe or complete loss of motor function in the lower extremities and lower portions of the trunk, is related to spastic paraplegia 5a, autosomal recessive and spastic paraplegia 6, autosomal dominant, and has symptoms including ophthalmoplegia, hemiplegia and paraparesis. An important gene associated with Paraplegia is SLC33A1 (Solute Carrier Family 33 Member 1). The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and bone marrow, and related phenotypes are nervous system and growth/size/body region

Wikipedia: 75 Paraplegia, or paraparesis, is an impairment in motor or sensory function of the lower extremities. The... more...

Related Diseases for Paraplegia

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

(show top 50) (show all 1406)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 5a, autosomal recessive 33.1 ZFYVE26 WASHC5 RTN2 NIPA1 CYP7B1
2 spastic paraplegia 6, autosomal dominant 33.0 SPG7 SPAST NIPA1 ATL1
3 spastic paraplegia 31, autosomal dominant 33.0 ZFYVE26 SPG11 SPAST SPART RTN2 REEP1
4 spastic paraplegia 7, autosomal recessive 33.0 SPG7 SPG11
5 spastic paraplegia 11, autosomal recessive 33.0 ZFYVE26 SPG7 SPG21 SPG11 SPAST
6 spastic paraplegia 48, autosomal recessive 32.9 ZFYVE26 SPG11 SPAST
7 spastic paraplegia 17, autosomal dominant 32.9 SPG21 SPG11 SPAST SPART REEP1 KIF5A
8 spastic paraplegia 20, autosomal recessive 32.9 ZFYVE26 WASHC5 SPG7 SPG21 SPAST SPART
9 spastic paraplegia 12, autosomal dominant 32.9 SPAST RTN2 REEP1 ATL1
10 spastic paraplegia 63, autosomal recessive 32.9 SPG7 SPG21 SPG11
11 spastic paraplegia 45, autosomal recessive 32.9 SPG7 SPG21 SPG11 SPAST
12 spastic paraplegia 15, autosomal recessive 32.9 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 SPAST
13 spastic paraplegia 74, autosomal recessive 32.9 SPG7 SPART
14 spastic paraplegia 8, autosomal dominant 32.8 WASHC5 SPG7 SPG11 SPAST ATL1
15 spastic paraplegia 3, autosomal dominant 32.8 ZFYVE26 WASHC5 SPG7 SPG11 SPAST REEP1
16 spastic paraplegia 9b, autosomal recessive 32.8 SPG11 SPART CYP7B1
17 spastic paraplegia, optic atrophy, and neuropathy 32.8 WASHC5 ATL1
18 spastic paraplegia 52, autosomal recessive 32.8 SPG11 SPAST
19 spastic paraplegia 75, autosomal recessive 32.8 ZFYVE26 SPAST REEP1 PLP1 KIF5A KIF1A
20 spastic paraplegia 79, autosomal recessive 32.8 SPG7 SPG11 SPAST
21 mast syndrome 32.8 SPG21 SPG11 SPART
22 spastic paraplegia 64, autosomal recessive 32.8 ZFYVE26 SPG7 SPG21 SPG11 CYP7B1
23 spastic paraplegia 4, autosomal dominant 32.8 SPG7 SPG11 SPAST SPART RTN2 REEP1
24 spastic paraplegia 26, autosomal recessive 32.8 ZFYVE26 WASHC5 SPG21 SPG11 SPAST SPART
25 spastic paraplegia 77, autosomal recessive 32.7 ZFYVE26 WASHC5 SPG7 SPG11 DDHD1
26 spastic paraplegia 53, autosomal recessive 32.7 ZFYVE26 WASHC5 SPG11 SPAST SLC33A1 ATL1
27 spastic paraplegia 55, autosomal recessive 32.7 ZFYVE26 SPG7 SPG21 SPG11 SPAST DDHD1
28 spastic paraplegia 54, autosomal recessive 32.7 ZFYVE26 SPG7 SPG21 SPG11 SPAST REEP1
29 spastic paraplegia 36, autosomal dominant 32.7 SPG21 ATL1
30 spastic paraplegia 82, autosomal recessive 32.7 ZFYVE26 DDHD1 CYP7B1
31 spastic paraplegia 80, autosomal dominant 32.7 ZFYVE26 SPG11 SPAST ERLIN2
32 spastic paraplegia 57, autosomal recessive 32.7 SPG11 SPAST RTN2 REEP1 ERLIN2 DDHD1
33 spastic paraplegia 14, autosomal recessive 32.7 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 SPAST
34 spastic paraplegia 41, autosomal dominant 32.7 ZFYVE27 WASHC5 SPG21 SPAST
35 spastic paraplegia 19, autosomal dominant 32.7 ZFYVE26 WASHC5 SPG21 SPAST SLC33A1 REEP1
36 spastic paraplegia 34, x-linked 32.6 ZFYVE26 WASHC5 SPG21 SPG11 SPAST SLC33A1
37 spastic paraplegia 62, autosomal recessive 32.6 SPG11 SPAST RTN2 REEP1 ERLIN2 DDHD1
38 spastic paraplegia 73, autosomal dominant 32.6 SPG21 SPG11 SPAST RTN2 REEP1 DDHD1
39 spastic paraplegia 61, autosomal recessive 32.6 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 SPAST
40 spastic paraplegia 43, autosomal recessive 32.6 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG11 SPAST
41 spastic paraplegia 9a, autosomal dominant 32.6 ZFYVE27 WASHC5 SPG11 SPAST SPART RTN2
42 spastic paraplegia 78, autosomal recessive 32.5 ZFYVE26 SPG7 SPG21 SPG11 SPAST SPART
43 spastic paraplegia 18, autosomal recessive 32.5 ZFYVE26 SPG7 SPG21 SPG11 SPAST SPART
44 hereditary spastic paraplegia 23 32.5 ZFYVE26 SPG21 SPG11 SPART
45 hereditary spastic paraplegia 49 32.5 ZFYVE26 SPG7 SPG21 SPG11 SPAST DDHD1
46 spastic paraplegia 44, autosomal recessive 32.4 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
47 spastic paraplegia 2, x-linked 32.4 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
48 hereditary spastic paraplegia 35 32.4 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 SPAST
49 masa syndrome 32.3 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
50 spastic paraplegia 13, autosomal dominant 32.3 WASHC5 SPG7 SPG21 SPG11 SPAST SPART

Comorbidity relations with Paraplegia via Phenotypic Disease Network (PDN): (show all 13)


Acute Cystitis Decubitus Ulcer
Deficiency Anemia Heart Disease
Hypertension, Essential Multiple Sclerosis
Neurogenic Bladder Osteoporosis
Paralytic Ileus Prostate Cancer
Protein-Energy Malnutrition Spinal Cord Disease
Vascular Myelopathy

Graphical network of the top 20 diseases related to Paraplegia:



Diseases related to Paraplegia

Symptoms & Phenotypes for Paraplegia

UMLS symptoms related to Paraplegia:


ophthalmoplegia; hemiplegia; paraparesis; paraplegia, ataxic; monoparesis; paraplegia, cerebral; paraplegia, spinal; monoplegia of lower limb affecting unspecified side; paraplegia, flaccid

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 ATL1 CYP7B1 DDHD1 ERLIN2 HSPD1 KIF1A
2 no effect GR00402-S-2 10.2 ATL1 CYP7B1 DDHD1 ERLIN2 HSPD1 KIF1A

MGI Mouse Phenotypes related to Paraplegia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.1 HSPD1 KIF1A KIF5A PLP1 REEP1 SLC33A1
2 growth/size/body region MP:0005378 9.97 DDHD1 HSPD1 KIF1A KIF5A PLP1 SLC33A1
3 cellular MP:0005384 9.73 DDHD1 HSPD1 KIF5A PLP1 REEP1 RTN2
4 behavior/neurological MP:0005386 9.5 ATL1 HSPD1 KIF1A KIF5A PLP1 REEP1

Drugs & Therapeutics for Paraplegia

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

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2 Neurotransmitter Agents Phase 2, Phase 3
3 Botulinum Toxins Phase 2, Phase 3
4 Cholinergic Agents Phase 2, Phase 3
5
Atorvastatin Approved Phase 2 134523-00-5 60823
6
Chenodeoxycholic acid Approved Phase 2 474-25-9 10133
7
Miglustat Approved Phase 2 72599-27-0 51634
8
Evolocumab Approved Phase 1, Phase 2 1256937-27-5
9
Resveratrol Investigational Phase 2 501-36-0 445154
10 Cathartics Phase 2
11 Laxatives Phase 2
12 Platelet Aggregation Inhibitors Phase 2
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
14 Antioxidants Phase 2
15 Gastrointestinal Agents Phase 2
16 Protective Agents Phase 2
17 Cardiac Glycosides Phase 2
18 Antiviral Agents Phase 2
19 Anti-Retroviral Agents Phase 2
20 Anti-Infective Agents Phase 2
21 Anti-HIV Agents Phase 2
22 Hypoglycemic Agents Phase 2
23 Glycoside Hydrolase Inhibitors Phase 2
24
abobotulinumtoxinA Phase 2
25 Pharmaceutical Solutions Phase 2
26 Botulinum Toxins, Type A Phase 2
27
incobotulinumtoxinA Phase 2
28 Hemagglutinins Phase 2
29 Antimetabolites Phase 1, Phase 2
30 Hypolipidemic Agents Phase 1, Phase 2
31 Anticholesteremic Agents Phase 1, Phase 2
32 Lipid Regulating Agents Phase 1, Phase 2
33
Mometasone furoate Approved, Investigational, Vet_approved 83919-23-7 4240 441336
34
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
35
Tannic acid Approved 1401-55-4 16129878 16129778
36
Methyltestosterone Approved 58-18-4 6010
37
Testosterone undecanoate Approved, Investigational 5949-44-0 21873174 65157
38
Testosterone enanthate Approved 315-37-7 9416
39
Testosterone Approved, Investigational 58-22-0 5408 6013
40
Dalfampridine Approved 504-24-5 1727
41
Idebenone Approved, Investigational 58186-27-9 3686
42
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
43
Metronidazole Approved 443-48-1, 69198-10-3 4173
44
Aspartic acid Approved, Nutraceutical 56-84-8 5960
45
Choline Approved, Nutraceutical 62-49-7 305
46
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
47 Anabolic Agents
48 Antineoplastic Agents, Hormonal
49 Hormones
50 Hormone Antagonists

Interventional clinical trials:

(show top 50) (show all 102)
# Name Status NCT ID Phase Drugs
1 Activity-Dependent Plasticity After Spinal Cord Injury Unknown status NCT00059553 Phase 2, Phase 3
2 Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study Completed NCT02604186 Phase 2, Phase 3
3 A Multi-center, Double-blind, Randomized, Placebo-controlled, Delayed Start Phase II/III Study to Assess the Efficacy and Safety of Neuro-Cells in (Sub)Acute Spinal Cord Injury Patients Recruiting NCT03935724 Phase 2, Phase 3
4 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
5 Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5 Completed NCT02314208 Phase 2 Xenbilox;Tahor
6 Design and Validation of a Modular Physiotherapy Concept for the Treatment of Hereditary Spastic Spinal Paralysis (HSP) - a Randomized Study Completed NCT03961906 Phase 2
7 Phase 2 Pharmacological Trial to Evaluate the Safety of Miglustat Administration in Subjects With Spastic Paraplegia 11 (TreatSPG11) Completed NCT04768166 Phase 2 Miglustat 100 MG
8 Multi-center Open Comparative Randomized Trial of Clinical and Neurophysiological Efficacy and Safety of Xeomin (Botulinum Toxin Type A) vs. Botox (Complex of Botulinum Toxin Type A and Hemagglutinin) in Children With Spastic Equine and Equinovarus Foot Deformation in Pediatric Cerebral Palsy Completed NCT02188277 Phase 2 Xeomin;Botox®
9 PCSK9 Inhibitor Treatment for Patients With Hereditary Spastic Paraplegia Type 5 Recruiting NCT04101643 Phase 1, Phase 2 evolocumab
10 A Phase 1/2 Open-label Intrathecal Administration of MELPIDA to Determine Its Safety and Efficacy for Patients With Spastic Paraplegia Type 50 (SPG50) Caused by Mutation in the AP4M1 Gene. Not yet recruiting NCT05518188 Phase 1, Phase 2
11 A Prospective, Randomised, Controlled, Open Study. Phase II Treatment Equivalent. Terminated NCT00429013 Phase 2
12 Rehabilitation of the Lower Extremity With AMES Following Incomplete Spinal Cord Injury (SCI) Terminated NCT01498991 Phase 1, Phase 2
13 Orthostatic Tolerance During FES-evoked Stepping in Paraplegia: A Safety and Viability Study Completed NCT00108043 Phase 1
14 The Safety of Autologous Human Schwann Cells (ahSC) in Subjects With Chronic Spinal Cord Injury (SCI) Receiving Rehabilitation Completed NCT02354625 Phase 1
15 Use of Interactive Gaming After Spinal Cord Injury Completed NCT01537978 Phase 1
16 The Safety of Autologous Human Schwann Cells (ahSC) in Subjects With Subacute Spinal Cord Injury (SCI) Completed NCT01739023 Phase 1
17 Freehand Ultrasound to Evaluate Scapular Kinematics in People With Paraplegia Unknown status NCT02357914
18 Extracorporeal Shockwave Therapy (ESWT) in Patients Suffering From Complete Paraplegia at the Thoracic Level Unknown status NCT03399968
19 Effects of Gait Training for Individuals With Paraplegia Using H-MEX Exoskeleton: A Pilot Study Unknown status NCT04055610
20 Training With Brain-machine Interfaces, Visuo-tactile Feedback and Assisted Locomotion for Patients With Chronic Complete Paraplegia Unknown status NCT03992690
21 NSC Assistive Technology Research: Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407
22 Interactive Telehealth and Auto-Biofeedback Sensor System for Individuals Who Use a Wheelchair: Phase II Unknown status NCT04266808
23 Computationally Quantifying Wheelchair Set-Up to Minimize Peak Shoulder Joint Forces Throughout Manual Wheelchair Propulsion: A Pilot Study Unknown status NCT00785278
24 Development of a Spinal Cord Injury-specific Exercise-based Capacity Unknown status NCT02602639
25 Developing Strategies to Optimize the Exercise Response in Persons Living With Tetraplegia. Unknown status NCT04465825
26 Body Composition Assessment in Spinal Cord Injury Unknown status NCT00957762
27 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
28 Functional Electrical Stimulation Cycling in Acute Spinal Cord Injury; a Feasibility Study Unknown status NCT04064385
29 A Clinical Observational Follow-up Study of European Pediatric Cases of Acute Flaccid Myelitis Associated With EV-D68 Infection. Unknown status NCT03499366
30 Clinical and Genetic Analysis of Autosomal Recessive Forms of Cerebellar Ataxias and Spastic Paraplegias Unknown status NCT00140829
31 Nebido® Therapy in Hypogonadal Male Patients With Osteoporosis Associated With Paraplegia Compared With Conventional Osteoporosis - Prophylaxis / Therapy in Hypogonadal and Eugonadal Patients With Osteoporosis Associated With Paraplegia Completed NCT00838838 Testosterone Undeconate (Nebido-R, BAY86-5037)
32 Collaborative Assessment of Pediatric Transverse Myelitis: Understand, Reveal, Educate or CAPTURE Study Completed NCT02144935
33 An Observational Study in Subjects With Spastic Paraplegia Type 11 Taking Trehalose Completed NCT04912609
34 Improving Gait Adaptability in Hereditary Spastic Paraplegia During Task-specific Training on the C-Mill: Towards Evidence-Based and Individually Tailored Rehabilitation Completed NCT04180098
35 Effect of Dalfampridine in Patients With Hereditary Spastic Paraplegia Completed NCT05613114 Dalfampridine 10 MG;Placebo
36 Studying Cognition in SPG4 Compared to Healthy Controls Completed NCT03104088
37 Nuclear Magnetic Spectroscopy for the Evaluation of Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
38 A Pilot Study of Repetitive Transcranial Magnetic Stimulation for Improvement of Gait in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416
39 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Completed NCT02852278
40 "Feasibility of High-intensity Interval Training (HIIT) as Hybrid Exercise Using Functional Electrical Stimulation Leg-cycling (FEScycling) and Ski Ergometer (SkiErg) With the Arms for People With Chronic Spinal Cord Injury Paraplegia" Completed NCT04211311
41 Evaluation of a Hybrid Prototype Strategy (Electrostimulation of Lower Limb Muscles Associated With Voluntary Strengthening of the Upper Limbs) in Reconditioning to Effort in Patients With Chronic Paraplegia. Completed NCT02042508
42 Safety and Tolerance of Local Heat Application in the Paralyzed Area of Patients With Complete Paraplegia Completed NCT03001531
43 Cardiovascular Effects of High Intensity Interval Training in Individuals With Paraplegia Completed NCT04378218
44 Development of a Biofeedback Intervention to Reduce the Risk of Upper Extremity Overuse Injury Following Paraplegia and Tetraplegia Completed NCT02700178
45 Studying Non-motor Symptoms in Patients With Hereditary Spastic Paraplegia (HSP) Compared to Healthy Controls Completed NCT03204773
46 The Effect of Upper-body High-intensity Interval Training on Postprandial Metabolic Control in Persons With Chronic Paraplegia Completed NCT04011137
47 Resistance Training to Improve Strength and Functional Trunk Stability in Adults With Paraplegia Completed NCT03949699
48 Exercise Treatment of Obesity-Related Secondary Conditions in Adults With Paraplegia Completed NCT01203150
49 The ReWalk Exoskeletal Walking System for Persons With Paraplegia Completed NCT01454570
50 ExoAtlet II Lower Extremity Exoskeleton Safety and Efficacy Use With Spinal Cord Injured Individuals Completed NCT04215081

Search NIH Clinical Center for Paraplegia

Cochrane evidence based reviews: paraplegia

Genetic Tests for Paraplegia

Anatomical Context for Paraplegia

Organs/tissues related to Paraplegia:

MalaCards : Spinal Cord, Brain, Bone Marrow, Bone, Prostate, Heart, Myeloid

Publications for Paraplegia

Articles related to Paraplegia:

(show top 50) (show all 13898)
# Title Authors PMID Year
1
Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39. 62
35947152 2022
2
Editorial Comment: Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases. 62
36074266 2022
3
Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases. 62
35593959 2022
4
Prospective Assessment of a Protocol Using Neuromonitoring, Early Limb Reperfusion, and Selective Temporary Aneurysm Sac Perfusion to Prevent Spinal Cord Injury During Fenestrated-branched Endovascular Aortic Repair. 62
33417331 2022
5
Level of injury is an independent determining factor of gut dysbiosis in people with chronic spinal cord injury: A cross-sectional study. 62
35835855 2022
6
Dysarthria in hereditary spastic paraplegia type 4. 62
36473366 2022
7
[A novel mutation of SPAST gene in a hereditary spastic paraplegia type 4 family]. 62
36456515 2022
8
Clinico-epidemiological profile and outcomes of babies with neural tube defects in a tertiary care center in Northern India. 62
34121591 2022
9
Late diagnosis of dorsolumbar lipomyelomeningocele with tethered cord in a middle aged adult: A case report from Nepal. 62
36189164 2022
10
Hereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutations. 62
34420199 2022
11
Kjellin's syndrome: Spastic paraplegia and multifocal pattern dystrophy simulating fundus flavimaculatus. 62
36343909 2022
12
Ubap1 knock-in mice reproduced the phenotype of SPG80. 62
35962060 2022
13
Cranio-cervical decompression associated with non-instrumented occipito-C2 fusion in children with mucopolysaccharidoses: Report of twenty-one cases. 62
36458130 2022
14
Comparative study of Japanese frozen elephant trunk device for open aortic arch repairs. 62
33965229 2022
15
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence. 62
36041817 2022
16
Spontaneous spinal cord infarction: a practical approach. 62
35835550 2022
17
Insights on the Potential Mechanisms of Action of Functional Electrical Stimulation Therapy in Combination With Task-Specific Training: A Scoping Review. 62
34031937 2022
18
Vital sign differences between septic patients with tetraplegia and paraplegia. 62
36433952 2022
19
The influence of psychological need on rehabilitation outcomes for people with spinal cord injury. 62
36435913 2022
20
Adherence to long-term medical follow-up: A qualitative, experience-focused study of people with spinal cord injury. 62
35031498 2022
21
Distal Perfusion With Modified Centrifugal Pump Circuit in Thoracic and Thoracoabdominal Aortic Aneurysm Repair. 62
35694966 2022
22
Homemade fenestrated physician-modified stent grafts for arch aortic degenerative aneurysms. 62
35697312 2022
23
Single-dose intravesical amikacin instillation for pyocystis in a patient with autonomic dysreflexia: A case report. 62
33983103 2022
24
Meningeosis Neoplastica in Patients with Glioblastoma: Analysis of 36 Cases. 62
36332774 2022
25
Outcomes of endovascular repair of aortic aneurysms with the GORE thoracic branch endoprosthesis for left subclavian artery preservation. 62
35709864 2022
26
Thoracic Endovascular Aortic Repair Practice in 13 Countries: A Report From VASCUNET and the International Consortium of Vascular Registries. 62
33214448 2022
27
Evaluation of clinical, diagnostic features and therapeutic outcome of neurobrucellosis: a case series and review of literature. 62
33287603 2022
28
Minimizing visceral organ ischemia time for open repair of thoracoabdominal aortic disease: Description of a new method. 62
36335603 2022
29
Total arch replacement and frozen elephant trunk for acute type A aortic dissection. 62
33341270 2022
30
[Safety and efficacy of a new domestic distal perforated stent graft in the treatment of Stanford type B aortic dissection]. 62
36319175 2022
31
Preemptive fenestrated endovascular repair aimed at perfusion of cervical branches in acute type B aortic dissection. 62
36414798 2022
32
Midterm Outcomes of Endovascular Versus Open Surgical Repair of Intact Descending Thoracic Aneurysms in Patients with Connective Tissue Disorders. 62
35460854 2022
33
A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review. 62
36100157 2022
34
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. 62
36331550 2022
35
VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population. 62
36156252 2022
36
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways. 62
35970204 2022
37
Spartin: At the crossroad between ubiquitination and metabolism in cancer. 62
36195276 2022
38
Spinal cord stimulation may improve gait and cognition in hereditary spastic paraplegia with mental retardation: a case report. 62
36369309 2022
39
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4. 62
36056923 2022
40
Practical recommendations for the clinical evaluation of patients with hereditary ataxia and hereditary spastic paraplegia. 62
36396094 2022
41
Hereditary spastic paraplegia in Mali: epidemiological and clinical features. 62
36396882 2022
42
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. 62
36371792 2022
43
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range. 62
36122674 2022
44
Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia. 62
36432490 2022
45
Cytosolic sequestration of spatacsin by Protein Kinase A and 14-3-3 proteins. 62
36096339 2022
46
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis. 62
36441344 2022
47
Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons. 62
35026838 2022
48
Clinical progression of ossification of the ligamentum flavum in thoracic spine: a 10- to 11-year follow-up study. 62
36422717 2022
49
Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4. 62
36362248 2022
50
Body composition and metabolic parameters in men with chronic traumatic paraplegia - A pilot study from India. 62
33705272 2022

Variations for Paraplegia

Copy number variations for Paraplegia from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 170541 3 155544315 155572167 Copy number SLC33A1 Paraplegias

Expression for Paraplegia

Search GEO for disease gene expression data for Paraplegia.

Pathways for Paraplegia

GO Terms for Paraplegia

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 10.16 ZFYVE27 SPAST SLC33A1 RTN2 REEP1 ERLIN2
2 endoplasmic reticulum GO:0005783 10.06 ATL1 CYP7B1 ERLIN2 REEP1 RTN2 SLC33A1
3 axon GO:0030424 10.02 ZFYVE27 SPG11 SPAST KIF1A ATL1
4 endoplasmic reticulum tubular network GO:0071782 9.43 ZFYVE27 REEP1 ATL1
5 axon cytoplasm GO:1904115 9.23 SPG7 SPAST KIF5A KIF1A

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

# Name GO ID Score Top Affiliating Genes
1 lysosome organization GO:0007040 9.73 ZFYVE26 WASHC5 SPG11
2 synaptic vesicle transport GO:0048489 9.62 SPG11 KIF5A
3 autophagosome organization GO:1905037 9.46 ZFYVE26 SPG11
4 retrograde neuronal dense core vesicle transport GO:1990049 9.26 KIF5A KIF1A
5 anterograde axonal transport GO:0008089 9.1 SPG7 SPAST KIF1A

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

# Name GO ID Score Top Affiliating Genes
1 ATP hydrolysis activity GO:0016887 9.32 SPG7 SPAST KIF5A KIF1A HSPD1

Sources for Paraplegia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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