MCID: SPS003
MIFTS: 52

Spastic Diplegia malady

Categories: Neuronal diseases, Rare diseases, Mental diseases

Aliases & Classifications for Spastic Diplegia

Aliases & Descriptions for Spastic Diplegia:

Name: Spastic Diplegia 12 29 52 14
Diplegic Infantile Cerebral Palsy 12 69
Little's Disease 12 69
Cerebral Palsy 42 69
Cerebral Spastic Infantile Paralysis 12
Infantile Diplegic Cerebral Palsy 12
Infantile Spastic Cerebral Palsy 12
Spastic Cerebral Palsy 69
Littles Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10965
ICD10 33 G80.1
ICD9CM 35 343.0
MeSH 42 D002547
NCIt 47 C34781

Summaries for Spastic Diplegia

Disease Ontology : 12 A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.

MalaCards based summary : Spastic Diplegia, also known as diplegic infantile cerebral palsy, is related to warburg micro syndrome 2 and spastic diplegia cerebral palsy, and has symptoms including athetosis, back pain and dystonia. An important gene associated with Spastic Diplegia is ALDH3A2 (Aldehyde Dehydrogenase 3 Family Member A2), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. The drugs Ethanol and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and cortex.

Wikipedia : 71 Spastic diplegia, historically known as Little\'s Disease, is a form of cerebral palsy (CP) that is a... more...

Related Diseases for Spastic Diplegia

Diseases in the Spastic Diplegia family:

Spastic Diplegia Infantile Type

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

(show top 50) (show all 51)
id Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 2 30.9 RAB18 RAB3GAP1 RAB3GAP2
2 spastic diplegia cerebral palsy 12.3
3 severe intellectual disability-progressive spastic diplegia syndrome 12.1
4 spastic diplegia infantile type 12.0
5 postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome 11.9
6 spastic hemiplegia 11.3
7 hereditary spastic paraplegia 11.3
8 renpenning syndrome 11.2
9 warburg micro syndrome 1 11.1
10 spasticity 10.9
11 spastic cerebral palsy 10.9
12 warburg micro syndrome 3 10.9
13 warburg micro syndrome 4 10.9
14 pain disorder 10.9
15 mental retardation, autosomal dominant 19 10.9
16 cerebritis 10.4
17 cerebral palsy 10.4
18 leukomalacia 10.1
19 periventricular leukomalacia 10.1
20 hemiplegia 10.0
21 argininemia 9.9
22 ataxia 9.9
23 quadriplegia 9.9
24 encephalopathy 9.9
25 arthritis 9.9
26 ichthyosis 9.9
27 paraplegia 9.9
28 mixed cerebral palsy 9.9 ALDH3A2 RAB3GAP1
29 hydrocephalus 9.8
30 hip subluxation 9.8
31 neuroblastoma 9.8
32 renal tubular acidosis 9.8
33 ptosis 9.8
34 cerebellar ataxia 9.8
35 blepharophimosis 9.8
36 spastic paraparesis 9.8
37 microcephaly 9.8
38 vein of galen aneurysm 9.8
39 aneurysm 9.8
40 angelman syndrome 9.8
41 hypoxia 9.8
42 tremor 9.8
43 hemangioma 9.8
44 myopathy 9.8
45 lobar holoprosencephaly 9.8
46 holoprosencephaly 9.8
47 mediastinitis 9.8
48 neurodegeneration with brain iron accumulation 1 9.6 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
49 asthma 9.6 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
50 synpolydactyly 9.5 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20

Comorbidity relations with Spastic Diplegia via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Spastic Diplegia:



Diseases related to Spastic Diplegia

Symptoms & Phenotypes for Spastic Diplegia

UMLS symptoms related to Spastic Diplegia:


athetosis, back pain, dystonia, headache, muscle rigidity, pain, sciatica, seizures, syncope, torticollis, tremor, chronic pain, muscle fibrillation, asterixis, abnormality of extrapyramidal motor function, abnormal head movements, vertigo/dizziness, myokymia, sleeplessness, muscle spasticity, opisthotonus

Drugs & Therapeutics for Spastic Diplegia

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

(show top 50) (show all 1483)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1 64-17-5 702
2
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
3
Clonidine Approved Phase 4,Phase 3,Phase 2 4205-90-7 2803
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
5
Nicotine Approved Phase 4,Phase 3,Phase 2,Phase 1 54-11-5 942 89594
6
Glyburide Approved Phase 4,Phase 3 10238-21-8 3488
7
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2 111025-46-8 4829
8
Zinc Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 7440-66-6 32051 23994
9
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-78-2 2244
10
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757 53477783
11
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 33069-62-4 36314
12
Colchicine Approved Phase 4,Phase 3,Phase 2 64-86-8 6167 2833
13
Efavirenz Approved, Investigational Phase 4,Phase 2,Phase 3 154598-52-4 64139
14
Epinephrine Approved, Vet_approved Phase 4,Phase 2 51-43-4 5816
15
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 59467-70-8 4192
16
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1 30516-87-1 35370
17
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2 147127-20-6 464205
18
Pantoprazole Approved Phase 4,Phase 3,Phase 1 102625-70-7 4679
19
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Phase 2 15307-86-5 3033
20
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 57-27-2 5288826
21
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Phase 1 103-90-2 1983
22
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2 134678-17-4 60825
23
Metformin Approved Phase 4,Phase 2,Phase 3,Phase 1 657-24-9 14219 4091
24
Artesunate Approved Phase 4,Phase 3,Phase 1 88495-63-0 6917864 5464098
25
Spironolactone Approved Phase 4,Phase 3 1952-01-7, 52-01-7 5833
26
Amlodipine Approved Phase 4,Phase 3 88150-42-9 2162
27
Acetylcholine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-84-3 187
28
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2 19982-08-2 4054
29
Ribavirin Approved Phase 4,Phase 2,Phase 3,Phase 1 36791-04-5 37542
30
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
31
Orlistat Approved, Investigational Phase 4 96829-58-2 3034010
32
Bupropion Approved Phase 4,Phase 3,Phase 2 34841-39-9, 34911-55-2 444
33
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 106266-06-2 5073
34
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2 113-45-1 4158
35
Timolol Approved Phase 4,Phase 3,Phase 2 26839-75-8 33624 5478
36
Ephedrine Approved Phase 4,Phase 2 299-42-3 9294
37
Abacavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 136470-78-5 65140 441300
38
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
39
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
40
Budesonide Approved Phase 4,Phase 3,Phase 2 51333-22-3 63006 5281004
41
Azithromycin Approved Phase 4,Phase 3,Phase 2 83905-01-5 55185 53477736 447043
42
Norgestimate Approved Phase 4,Phase 3,Phase 2,Phase 1 35189-28-7 6540478
43
Oxytocin Approved, Vet_approved Phase 4,Phase 2,Phase 1 50-56-6 439302 53477758
44
Tranylcypromine Approved Phase 4,Phase 1 155-09-9 441233
45
Citalopram Approved Phase 4,Phase 3,Phase 2,Phase 1 59729-33-8 2771
46
Ketorolac Approved Phase 4,Phase 2,Phase 3 74103-06-3, 66635-83-4 3826
47
Minocycline Approved, Investigational Phase 4,Phase 3 10118-90-8 5281021
48
Tranexamic Acid Approved Phase 4,Phase 3,Phase 2 1197-18-8 5526
49
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
50
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 159351-69-6 6442177

Interventional clinical trials:

(show top 50) (show all 5000)
id Name Status NCT ID Phase
1 Substitution of First Phase Insulin Response in Patient With Type 2 Diabetes. Unknown status NCT00254085 Phase 4
2 The Comparison of Oxytocin Induced Labor and Cook Balloon Induced Labor Unknown status NCT02202083 Phase 4
3 Study of Cefditoren Pivoxil in Treatment of Childhood With Acute Rhinosinusitis Unknown status NCT01553006 Phase 4
4 The INDORSE Study: Inhibition of Dipeptidyl Peptidase IV: Outcomes on Renal Sodium Excretion Unknown status NCT02406443 Phase 4
5 Tranylcypromine Treatment of Bipolar Depression Unknown status NCT01430455 Phase 4
6 Effect of Race/Ethnicity and Genes on Acetaminophen Pharmacokinetics Unknown status NCT00768716 Phase 4
7 Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids. Unknown status NCT00705588 Phase 4
8 Metformin and Sitagliptin Therapy for Adult Patients With Type 2 Diabetes Admitted to the General Medical Unit Unknown status NCT02250794 Phase 4
9 Comparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure Unknown status NCT00994552 Phase 4
10 Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:A Randomized Controlled Trial Unknown status NCT00196703 Phase 4
11 Pharmacodynamic Effects of Atorvastatin vs. Rosuvastatin on Platelet Reactivity Unknown status NCT01567774 Phase 4
12 Physical Activity and ARTs Unknown status NCT01892111 Phase 4
13 Smoking Cessation Treatment for Methadone Maintenance Patients Unknown status NCT01027754 Phase 4
14 Comparing a Nucleoside-Analogue-Sparing Regimen and a Protease-Inhibitor-Sparing Regimen in HIV Infected Patients Unknown status NCT00135460 Phase 4
15 Herbal Alternatives for Menopause Symptoms (HALT Study) Unknown status NCT00169299 Phase 4
16 Effects of Atrial Rate-adaptive Pacing on Exercise Capacity in Patients With Chronic Heart Failure Complicated by Chronotropic Incompetence Unknown status NCT01016431 Phase 4
17 Improving Outcomes in Psychosis Associated With Substance Use Using Aripiprazole Unknown status NCT01155544 Phase 4
18 Positron Emission Tomography (PET)/Computed Tomography (CT) and Roentgen in Lung Cancer: Evaluation of Patients in General Practice Unknown status NCT00675168 Phase 4
19 Telaprevir in Genotype 3 HCV Unknown status NCT02087111 Phase 4
20 Relationship Between Initial Plaque Characteristics and Stent Surface Coverage Patterns Unknown status NCT01024179 Phase 4
21 Postoperative Pain Relief Following Total Hip Arthroplasty. A Comparison Between Intrathecal Morphine (IM) and Local Infiltration Analgesia (LIA) Unknown status NCT01281891 Phase 4
22 Determination of the Minimum Local Analgesic Dose of Spinal Chloroprocaine in Labour Unknown status NCT01909089 Phase 4
23 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304 Phase 4
24 Safety and Efficacy of Intradermal Trivalent Influenza Vaccination in Institutionalized Older Adults Unknown status NCT01967368 Phase 4
25 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4
26 Resistant Hypertension Optimal Treatment Unknown status NCT01643434 Phase 4
27 Conservative Versus Aggressive Discectomy for Primary Disc Herniation With Radiculopathy Unknown status NCT01204008 Phase 4
28 Combinatorial Therapy for Peristent Type 2 Diabetes After Gastric Banding Unknown status NCT01597531 Phase 4
29 Study of Long-Term Peg Intron Vs. Colchicine in Non-Responders. Unknown status NCT00179413 Phase 4
30 Safety and Effectiveness of TRIZIVIR (Abacavir/Lamivudine/Zidovudine) With Efavirenz in HIV-Infected Patients Who Have Never Taken Anti-HIV Drugs Unknown status NCT00011895 Phase 4
31 EAP (Expanded Access Protocol) Of Lapatinib Combined With Capecitabine In Metastatic Breast Cancer Approved for marketing NCT00338247 Phase 4
32 Physiologic Effects of PRMS & Testosterone in the Debilitated Elderly Completed NCT00018356 Phase 4
33 Telemedicine Outreach for Post Traumatic Stress in CBOCs Completed NCT00821678 Phase 4
34 Facilitating the Adoption of Evidence-Based Depression Management in Substance Use Treatment Programs Completed NCT00137306 Phase 4
35 Randomized Isoflurane and Sevoflurane Comparison in Cardiac Surgery Completed NCT01477151 Phase 4
36 Warfarine in Unexplained Oligohydramnios Completed NCT01569035 Phase 4
37 Influenza Vaccination for Parents and Other Caregivers in the Pediatric Medical Home Completed NCT00812110 Phase 4
38 Study to Monitor the Incidence of Pure Red Cell Aplasia (PRCA) and/or Antibodies to Erythropoietin Among Participants Receiving Epoetin Alfa or Another Erythropoietin Completed NCT00210951 Phase 4
39 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 Phase 4
40 Effect of Electronic Cigarette Use on Cough Reflex Sensitivity Completed NCT02203162 Phase 4
41 Etomidate vs. Midazolam for Sedation During ERCP Completed NCT02027311 Phase 4
42 Patients-ventilator Interaction During Sleep: Effect of Humidification System Completed NCT01038791 Phase 4
43 Antidepressant Therapy for Bipolar II Major Depression Completed NCT00641927 Phase 4
44 Neointimal Coverage After Implantation of Biolimus Eluting Stent With Biodegradable Polymer: Optical Coherence Tomographic Assessment According to the Treatment of Dyslipidemia and Hypertension and the Types of Implanted Drug-eluting Stents Completed NCT01502904 Phase 4
45 The Efficacy and Safety of Using Tranexamic Acid by Different Means to Reduce Blood Loss During Total Knee Replacement Completed NCT02117128 Phase 4
46 BIS and Entropy Nociception Monitoring Completed NCT02585466 Phase 4
47 Normoglycaemia in Intensive Care Evaluation and Survival Using Glucose Algorithm Regulation (NICE - SUGAR STUDY) Completed NCT00220987 Phase 4
48 Effect of Anthocyanins on Metabolic Profiles in Subjects With Pre-diabetes Completed NCT02689765 Phase 4
49 Efficacy Evaluation of Different Medication Combination in Type 2 Diabetes Treatment Completed NCT01076842 Phase 4
50 Effect of Nepafenac Eye Drops on Intraocular Pressure in Normal Eyes Completed NCT01995890 Phase 4

Search NIH Clinical Center for Spastic Diplegia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: cerebral palsy

Genetic Tests for Spastic Diplegia

Genetic tests related to Spastic Diplegia:

id Genetic test Affiliating Genes
1 Spastic Diplegia 29

Anatomical Context for Spastic Diplegia

MalaCards organs/tissues related to Spastic Diplegia:

39
Testes, Brain, Cortex

Publications for Spastic Diplegia

Articles related to Spastic Diplegia:

(show top 50) (show all 213)
id Title Authors Year
1
Spastic diplegia in preterm-born children: Executive function impairment and neuroanatomical correlates. ( 28073076 )
2017
2
Effect of task-oriented training and high-variability practice on gross motor performance and activities of daily living in children with spastic diplegia. ( 27821947 )
2016
3
Research of the spatial-temporal gait parameters and pressure characteristic in spastic diplegia children. ( 27405783 )
2016
4
Intramuscular psoas lengthening during single-event multi-level surgery fails to improve hip dynamics in children with spastic diplegia. Clinical and kinematic outcomes in the short- and medium-terms. ( 27050557 )
2016
5
Correlation between transverse plan kinematics and foot progression angle in children with spastic diplegia. ( 27902635 )
2016
6
Impact of loaded sit-to-stand exercises at different speeds on the physiological cost of walking in children with spastic diplegia: A single-blind randomized clinical trial. ( 27394691 )
2016
7
Relation of selective voluntary motor control of the lower extremity and extensor strength of the knee joint in children with spastic diplegia. ( 27390436 )
2016
8
Real-time feedback of dynamic foot pressure index for gait training of toe-walking children with spastic diplegia. ( 27558231 )
2016
9
Effects of Soft Tissue Surgery on Pelvic and Hip Rotation in Patients with Spastic Diplegia: A Meta-Analysis. ( 27247745 )
2016
10
Altered Resting-State EEG Microstate Parameters and Enhanced Spatial Complexity in Male Adolescent Patients with Mild Spastic Diplegia. ( 27640158 )
2016
11
Communication skills in individuals with spastic diplegia. ( 26107078 )
2015
12
The differential diagnosis of spastic diplegia. ( 25700542 )
2015
13
Patellar tendon shortening for flexed knee gait in spastic diplegia. ( 25701014 )
2015
14
Effects of trunk-hip strengthening on standing in children with spastic diplegia: a comparative pilot study. ( 26157214 )
2015
15
Delayed finger tapping and cognitive responses in preterm-born male teenagers with mild spastic diplegia. ( 25693583 )
2015
16
Selective dorsal rhizotomy for spastic diplegia secondary to stroke in an adult patient. ( 26167363 )
2015
17
Plasma Tumor Necrosis Factor-alpha (TNF-I+) Levels Correlate with Disease Severity in Spastic Diplegia, Triplegia, and Quadriplegia in Children with Cerebral Palsy. ( 26656070 )
2015
18
Keyhole interlaminar dorsal rhizotomy for spastic diplegia in cerebral palsy. ( 26002713 )
2015
19
Effects of the standing program with hip abduction on hip acetabular development in children with spastic diplegia cerebral palsy. ( 26517269 )
2015
20
Electrical Stimulation Following Botulinum Toxin A in Children With Spastic Diplegia: A Within-Participant Randomized Pilot Study. ( 25529410 )
2014
21
Sit-to-stand movement changes in preschool-aged children with spastic diplegia following one neurodevelopmental treatment session - a pilot study. ( 25327772 )
2014
22
A Descriptive Study of Lower Limb Torsional Kinematic Profiles in Children With Spastic Diplegia. ( 25333905 )
2014
23
Ankle-foot orthoses management in children with spastic diplegia: re: day vs. day-night use of ankle-foot orthoses in young children with spastic diplegia. ( 24658426 )
2014
24
Correlations between gross motor functions and health-related quality of life in Thai children with spastic diplegia. ( 25518314 )
2014
25
Comparison of children with joint angles in spastic diplegia with those of normal children. ( 25276040 )
2014
26
Altered trunk movements during gait in children with spastic diplegia: compensatory or underlying trunk control deficit? ( 24864057 )
2014
27
Long term outcome of single event multilevel surgery in spastic diplegia with flexed knee gait. ( 23041270 )
2013
28
Three-dimensional head and trunk movement characteristics during gait in children with spastic diplegia. ( 23597939 )
2013
29
Reliability of head and trunk kinematics during gait in children with spastic diplegia. ( 23062729 )
2013
30
Long-term effects after conversion of biarticular to monoarticular muscles compared with musculotendinous lengthening in children with spastic diplegia. ( 23018029 )
2013
31
Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia. ( 23121133 )
2013
32
Short-term effects of proximal femoral derotation osteotomy on kinematics in ambulatory patients with spastic diplegia. ( 23531549 )
2013
33
Effects of vojta therapy on gait of children with spastic diplegia. ( 24409030 )
2013
34
The impacts of hinged and solid ankle-foot orthoses on standing and walking in children with spastic diplegia. ( 24665312 )
2013
35
Spastic diplegia in children with HIV encephalopathy: first description of gait and physical status. ( 24182356 )
2013
36
Full body gait analysis may improve diagnostic discrimination between hereditary spastic paraplegia and spastic diplegia: a preliminary study. ( 23085499 )
2013
37
Day vs. day-night use of ankle-foot orthoses in young children with spastic diplegia: a randomized controlled study. ( 23739274 )
2013
38
Hip flexion deformity improves without psoas-lengthening after surgical correction of fixed knee flexion deformity in spastic diplegia. ( 22878968 )
2012
39
Rectus femoris distal tendon resection improves knee motion in patients with spastic diplegia. ( 21842297 )
2012
40
A comparison of activity, participation and quality of life in children with and without spastic diplegia cerebral palsy. ( 22200241 )
2012
41
Development of knee function after hamstring lengthening as a part of multilevel surgery in children with spastic diplegia: a long-term outcome study. ( 22257998 )
2012
42
Long-term outcome of femoral derotation osteotomy in children with spastic diplegia. ( 22766044 )
2012
43
Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay. ( 21934608 )
2012
44
Kinematic and electromyographic studies on unaided, unilateral and bilateral crutch walking in adolescents with spastic diplegia. ( 22130909 )
2012
45
Distal rectus femoris transfer as part of multilevel surgery in children with spastic diplegia--a randomized clinical trial. ( 22425637 )
2012
46
Motor pathway injury in patients with periventricular leucomalacia and spastic diplegia. ( 21385750 )
2011
47
Level of activity and participation in adults with spastic diplegia 17-26 years after selective dorsal rhizotomy. ( 21327322 )
2011
48
Single-event multilevel surgery in children with spastic diplegia: a pilot randomized controlled trial. ( 21368077 )
2011
49
Immediate effects of therapeutic music on loaded sit-to-stand movement in children with spastic diplegia. ( 21185725 )
2011
50
3D gait analysis in patients with hereditary spastic paraparesis and spastic diplegia: a kinematic, kinetic and EMG comparison. ( 20829081 )
2011

Variations for Spastic Diplegia

ClinVar genetic disease variations for Spastic Diplegia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ADD3 NM_016824.4(ADD3): c.1100G> A (p.Gly367Asp) single nucleotide variant Pathogenic rs564185858 GRCh37 Chromosome 10, 111882007: 111882007

Expression for Spastic Diplegia

Search GEO for disease gene expression data for Spastic Diplegia.

Pathways for Spastic Diplegia

GO Terms for Spastic Diplegia

Cellular components related to Spastic Diplegia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.02 ALDH3A2 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
2 endoplasmic reticulum tubular network GO:0071782 8.96 RAB18 RAB3GAP1

Biological processes related to Spastic Diplegia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.56 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
2 regulation of GTPase activity GO:0043087 9.46 RAB3GAP1 RAB3GAP2
3 camera-type eye development GO:0043010 9.43 RAB3GAP1 TBC1D20
4 seminiferous tubule development GO:0072520 9.4 ATRX TBC1D20
5 positive regulation of autophagosome assembly GO:2000786 9.37 RAB3GAP1 RAB3GAP2
6 positive regulation of protein lipidation GO:1903061 9.32 RAB3GAP1 RAB3GAP2
7 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 9.16 RAB3GAP1 RAB3GAP2
8 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 8.96 RAB3GAP1 RAB3GAP2
9 lipid particle organization GO:0034389 8.8 RAB18 RAB3GAP1 TBC1D20

Molecular functions related to Spastic Diplegia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.16 RAB3GAP1 RAB3GAP2
2 GTPase activator activity GO:0005096 9.13 RAB3GAP1 RAB3GAP2 TBC1D20
3 Rab GTPase binding GO:0017137 8.8 RAB3GAP1 RAB3GAP2 TBC1D20

Sources for Spastic Diplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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