Aliases & Classifications for Spastic Diplegia

MalaCards integrated aliases for Spastic Diplegia:

Name: Spastic Diplegia 12 54 6 15
Diplegic Infantile Cerebral Palsy 12 71
Little's Disease 12 71
Cerebral Palsy 43 71
Cerebral Spastic Infantile Paralysis 12
Infantile Diplegic Cerebral Palsy 12
Infantile Spastic Cerebral Palsy 12
Spastic Cerebral Palsy 71
Littles Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10965
ICD9CM 34 343.0
MeSH 43 D002547
NCIt 49 C34781
SNOMED-CT 67 281411007
ICD10 32 G80.1
UMLS 71 C0007789 C0023882 C0154695 more

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 4 and warburg micro syndrome 1, and has symptoms including seizures, tremor and back pain. An important gene associated with Spastic Diplegia is KCNJ10 (Potassium Inwardly Rectifying Channel Subfamily J Member 10), and among its related pathways/superpathways are RAB GEFs exchange GTP for GDP on RABs and COPI-independent Golgi-to-ER retrograde traffic. The drugs Levodopa and Heparin have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 74 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 related to Spastic Diplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 761)
# Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 4 32.3 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
2 warburg micro syndrome 1 32.3 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
3 warburg micro syndrome 3 32.3 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
4 warburg micro syndrome 2 32.1 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
5 spastic hemiplegia 31.9 SHANK2 PES1 HECTD4
6 hereditary spastic paraplegia 31.7 TUBA1A SPAST L1CAM ALDH3A2
7 spastic cerebral palsy 30.4 TUBA1A TBC1D20 SHANK2 RAB3GAP1 PES1 HECTD4
8 hemiplegia 29.9 SHANK2 PES1 HECTD4
9 osgood-schlatter's disease 29.8 PES1 HECTD4
10 tendinitis 29.7 PES1 HECTD4
11 clubfoot 29.7 PES1 HECTD4 CTNNB1
12 microphthalmia 29.7 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18 CTNNB1
13 bursitis 29.6 PES1 HECTD4
14 peroneal nerve paralysis 29.5 PES1 HECTD4
15 cryptorchidism, unilateral or bilateral 29.0 TUBA1A PES1 ATRX
16 microcephaly 28.2 TUBA1A TBC1D20 SEPSECS RAB3GAP2 RAB3GAP1 RAB18
17 cerebral palsy, ataxic, autosomal recessive 13.0
18 dyskinetic cerebral palsy 12.9
19 cerebral palsy, spastic quadriplegic, 1 12.8
20 spastic diplegia cerebral palsy 12.7
21 cerebral palsy, spastic quadriplegic, 2 12.7
22 cerebral palsy, spastic quadriplegic, 3 12.7
23 mixed cerebral palsy 12.7
24 neurodevelopmental disorder with spastic diplegia and visual defects 12.7
25 spastic quadriplegia 12.6
26 spastic diplegia and mental retardation 12.6
27 severe intellectual disability-progressive spastic diplegia syndrome 12.6
28 epilepsy, photogenic, with spastic diplegia and mental retardation 12.3
29 spastic monoplegia 12.3
30 intellectual disability - athetosis - microphthalmia 12.2
31 renpenning syndrome 1 12.0
32 suprabulbar paresis, congenital 11.9
33 spastic paraplegia 47, autosomal recessive 11.9
34 spastic paraplegia 52, autosomal recessive 11.9
35 spastic paraplegia 51, autosomal recessive 11.8
36 spastic paraplegia 50, autosomal recessive 11.8
37 inherited congenital spastic tetraplegia 11.8
38 swallowing disorders 11.7
39 fetal methylmercury syndrome 11.6
40 dysphagia 11.6
41 athetosis 11.6
42 hypotonia 11.6
43 cerebral atrophy 11.5
44 neonatal jaundice 11.5
45 developmental coordination disorder 11.5
46 foot drop 11.5
47 paine syndrome 11.5
48 infantile hypotonia 11.5
49 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 11.5
50 rhombencephalosynapsis 11.5

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:


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

GenomeRNAi Phenotypes related to Spastic Diplegia according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.55 ARG1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.55 TUBA1A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.55 HSD17B10
4 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.55 TUBA1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.55 HSD17B10
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.55 ARG1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.55 ARG1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.55 HSD17B10
9 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.55 TUBA1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.55 ARG1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.55 ARG1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.55 TUBA1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-61 9.55 TUBA1A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.55 TUBA1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.55 ARG1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.55 ARG1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.55 TUBA1A

MGI Mouse Phenotypes related to Spastic Diplegia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.4 ALDH3A2 ARG1 ATRX CTNNB1 KCNJ10 L1CAM

Drugs & Therapeutics for Spastic Diplegia

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

(show top 50) (show all 277)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved Phase 4 59-92-7 6047
2
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
3
Sodium citrate Approved, Investigational Phase 4 68-04-2
4
Caffeine Approved Phase 4 58-08-2 2519
5
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
6
Amantadine Approved Phase 4 768-94-5 2130
7
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
8
Oxytocin Approved, Vet_approved Phase 4 50-56-6 53477758 439302
9
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
10
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
11
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
12
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
13
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
15 Carbidopa, levodopa drug combination Phase 4
16 Dihydroxyphenylalanine Phase 4
17 calcium heparin Phase 4
18 incobotulinumtoxinA Phase 4
19 Acidophilus Phase 4
20 Sunflower Phase 4
21 Citrate Phase 4
22 Phosphodiesterase Inhibitors Phase 4
23 Central Nervous System Stimulants Phase 4
24 Caffeine citrate Phase 4
25 Antiviral Agents Phase 4
26 Antiparkinson Agents Phase 4
27 Dopamine Agents Phase 4
28 Hormones Phase 4
29 Anti-Inflammatory Agents Phase 4
30 Respiratory System Agents Phase 4
31 Hormone Antagonists Phase 4
32 glucocorticoids Phase 4
33 Anti-Asthmatic Agents Phase 4
34
Peppermint oil Approved, Investigational Phase 3 8006-90-4
35
Peppermint Approved Phase 3
36
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
37
Chloral hydrate Approved, Illicit, Investigational, Vet_approved Phase 3 302-17-0 2707
38
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
39
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
40
Clozapine Approved Phase 3 5786-21-0 2818
41
Bisacodyl Approved Phase 3 603-50-9
42
Nifedipine Approved Phase 3 21829-25-4 4485
43
Progesterone Approved, Vet_approved Phase 2, Phase 3 57-83-0 5994
44
Nitric Oxide Approved Phase 2, Phase 3 10102-43-9 145068
45
Scopolamine Approved, Investigational Phase 3 6533-68-2, 51-34-3 5184
46
Alendronate Approved Phase 3 66376-36-1, 121268-17-5 2088
47
Ibuprofen Approved Phase 3 15687-27-1 3672
48 Nabiximols Investigational Phase 3 56575-23-6
49 Anti-Arrhythmia Agents Phase 3
50 Neuroprotective Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 1060)
# Name Status NCT ID Phase Drugs
1 Consequence of Dexmedetomidine on Emergence Deliruim After Sevoflurane Anesthesia in Children With Cerebral Palsy Unknown status NCT02244515 Phase 4 dexmedetomidine
2 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
3 Effects of Functional Electrical Stimulation on Gait in Children With Hemiplegic and Diplegic Cerebral Palsy Unknown status NCT02462018 Phase 4
4 Changes of Gas Values in Cord Blood Versus Time and Temperature Unknown status NCT02785367 Phase 4
5 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
6 Recurrent Crying Spells in Cerebral Palsy With Spastic Quadriparesis - A Crossover Study Completed NCT01955655 Phase 4 Baclofen
7 A Randomized Controlled Trial on Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy Completed NCT00432055 Phase 4 Botulinum toxin type A (Botox);placebo (saline)
8 A Placebo Controlled, Cross-over, Double Blind, Randomized, Clinical Trial to Compare the Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Completed NCT01860196 Phase 4 Meditoxin;Normal saline
9 Postoperative Pain in Children With Cerebral Palsy After Pelvic and Femoral Osteotomies. A Prospective, Randomized and Double-blinded Study Completed NCT00964639 Phase 4 Ropivacaine;Saline
10 Multi-center, Single Arm, Open-label, Phase IV Clinical Trial to Evaluate the Safety and Efficacy of MEDITOXIN® in Children With Cerebral Palsy Completed NCT01256021 Phase 4 Botulinum Toxin Type A
11 Alterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children Completed NCT00154830 Phase 4
12 SPREAD AND EFFECTIVENESS OF BOTULINUM NEUROTOXIN A IN SPASTIC EQUINUS IN CEREBRAL PALSY:SHORT-TERM STUDY Completed NCT01276015 Phase 4 Botulinum Toxin Type A
13 Effect of Erythropoietin on Preterm Brain Injury Completed NCT02036073 Phase 4 recombinant human erythropoietin
14 Efficacy of the Supplementation With a Symbiotic, a Prebiotic and a Probiotic to Produce a Beneficial Effect on the Intestinal Microbiota and on the Characteristics of Feces in Children With Cerebral Palsy (CP) and Chronic Constipation Completed NCT03117322 Phase 4
15 Effect of Magnesium Sulfate on the Incidence of Periventricular Leukomalacia in the Very Preterm Neonate Completed NCT00120588 Phase 4 magnesium
16 Magnetic Resonance Imaging and Neurodevelopmental Outcomes in Preterm Infants Following Administration of High-Dose Caffeine - A Pilot Study Completed NCT00809055 Phase 4 Caffeine citrate
17 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4 Botox
18 Use of Amantadine in Treating Cognitive and Motor Impairments in Adolescents and Adults With Cerebral Palsy Recruiting NCT04273737 Phase 4 Amantadine Hydrochloride
19 Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? Recruiting NCT02546999 Phase 4 botox;placebo
20 Efficacy of a Peri-Operative Surgical-Site, Multimodal Drug Injection in Pediatric Patients With Cerebral Palsy Undergoing Hip Surgery: A Randomized Controlled Trial Recruiting NCT04074265 Phase 4 Ropivacaine injection;normal saline
21 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
22 Reducing Neonatal Morbidity by Discontinuing Oxytocin During the Active Phase of 1st Stage of Labor: a Multicenter Randomized Controlled Trial Recruiting NCT03991091 Phase 4 discontinuation of oxytocin administration;continuation of oxytocin administration
23 A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging Active, not recruiting NCT02633241 Phase 4 Dexmedetomidine-Propofol
24 Intrathecal (IT) Baclofen Drug Distribution Pilot Study Active, not recruiting NCT02903823 Phase 4 Baclofen bolus injection
25 Improvement After Botulinum Toxin A Injections to the Upper Extremities in Children With Cerebral Palsy Terminated NCT00549471 Phase 4
26 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Terminated NCT00752934 Phase 4 oral baclofen + placebo;placebo + oral baclofen
27 Randomized Trial on Efficacy and Safety of the Antenatal Rescue Course of Glucocorticoids in Threatened Premature Birth (ACG Trial) Terminated NCT00295464 Phase 4 Betamethasone sodium phos (drug)
28 Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy Withdrawn NCT01386255 Phase 4 Baclofen;placebo
29 Safety and Efficacy of Bone Marrow MNC for the Treatment of Cerebral Palsy in Subjects Below Years. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01832454 Phase 2, Phase 3
30 Project:Intensive Habilitation (PIH) -a New Norwegian Multidisciplinary Program for Intensive Training for Children With Disabilities Unknown status NCT00202761 Phase 2, Phase 3
31 Phase 2/3 Application of Botulinum Neurotoxin Type A in Salivary Glands as a Treatment of Chronic Drooling in Patients With Cerebral Palsy: A Controlled Clinical Trial. Unknown status NCT01489904 Phase 2, Phase 3
32 Targeted Hip Progressive Resistance Training to Improve Single Leg Balance and Walking in Children With Cerebral Palsy Unknown status NCT01633736 Phase 3
33 Magnesium Prevention of Brain Injury in Preterm Infants Unknown status NCT00065949 Phase 3 magnesium sulfate
34 Modulation of Brain Plasticity After Perinatal Stroke: The PLASTIC CHAMPS Trial Unknown status NCT01189058 Phase 2, Phase 3
35 Effect of Early Application of Recombinant Human Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome Unknown status NCT03110341 Phase 3 Erythropoietin;Normal saline
36 A CLINICAL STUDY TO EVALUATE THE EFFICACY OF CAUSTICUM 200C IN THE TREATMENT OF PRIMARY ENURESIS Unknown status NCT02154152 Phase 3 Homoeopathic Medicine causticum 200c
37 Effectiveness of Vojta Therapy in Motor Development of Preterm Children Unknown status NCT01838278 Phase 3
38 Efficacy and Functional Outcomes of Botulinum Toxin A Injections to Hamstrings in Flexed Knee Gait in Cerebral Palsy: A Double-Blind, Randomized, Placebo-Controlled Trial Completed NCT00261131 Phase 3 Botulinum Toxin A
39 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
40 A Phase III, Prospective, Multicentre, Open Label, Extension Study Assessing the Long Term Safety and Efficacy of Repeated Treatment With DYSPORT® Used in the Treatment of Lower Limb Spasticity in Children With Dynamic Equinus Foot Deformity Due to Cerebral Palsy Completed NCT01251380 Phase 3
41 Double-blinded, Randomized, Active Control Comparative, Multicenter-designed, Phase III Clinical Trial to Evaluate the Safety and Efficacy of "Botulax®" Versus "Botox®" in Children With Cerebral Palsy Completed NCT01787344 Phase 3 Botulinum Toxin Type A(Botox®);Botulinum toxin type A(Botulax®)
42 A Randomized Controlled Trial on Integrated Management of Pronation Deformity of Children With Cerebral Palsy Treated by Botulinum Toxin-A Completed NCT03472261 Phase 3 Botulinum toxin type A
43 Efficacy of Stem Cell Transplantation Compared to Rehabilitation Treatment of Children With Cerebral Paralysis Completed NCT01929434 Phase 3
44 A Phase III, Multicentre, Double Blind, Prospective, Randomised, Placebo Controlled Study Assessing the Efficacy and Safety of DYSPORT® Used in the Treatment of Lower Limb Spasticity in Children With Dynamic Equinus Foot Deformity Due to Cerebral Palsy Completed NCT01249417 Phase 3 Placebo
45 Botulinum Toxin Efficiency on Spasticity of Rectus Femoris and Semitendinosus Muscles as Functional Agonist and Antagonist Muscles. Assessment of Efficiency of Botulinum Toxin on Spasticity in Agonist and Antagonist Muscles Using Clinical Assessment and Gait Analysis in Cerebral Palsy Children: Rectus Femoris and Semitendinosus Completed NCT00133861 Phase 2, Phase 3 Botulinum toxin
46 Intrathecal Baclofen. Evaluation of a Therapy for Refractory Spasticity in Children With Cerebral Palsy Completed NCT00367068 Phase 3 baclofen, intrathecal
47 Individualized Neurodevelopmental Treatment Completed NCT00922077 Phase 3
48 Prospective, Multicenter, Randomized, Double-blind, Parallel-group, Dose-response Study of Three Doses Xeomin® (incobotulinumtoxinA, NT 201) for the Treatment of Upper Limb Spasticity Alone or Combined Upper and Lower Limb Spasticity in Children and Adolescents (Age 2 - 17 Years) With Cerebral Palsy Completed NCT02002884 Phase 3 IncobotulinumtoxinA (8 Units per kg body weight);IncobotulinumtoxinA (6 Units per kg body weight);IncobotulinumtoxinA (2 Units per kg body weight)
49 Open-label, Non-controlled, Multicenter Long-term Study to Investigate the Safety and Efficacy of Xeomin® (Incobotulinumtoxin A, NT 201) for the Treatment of Spasticity of the Lower Limb(s) or of Combined Spasticity of Upper and Lower Limb in Children and Adolescents (Age 2 - 17 Years) With Cerebral Palsy Completed NCT01905683 Phase 3 IncobotulinumtoxinA (16-20 Units per kg body weight)
50 Prospective, Multicenter, Randomized, Double-blind, Parallel-group, Dose-response Study of Three Doses Xeomin® (incobotulinumtoxinA, NT 201) for the Treatment of Lower Limb Spasticity in Children and Adolescents (Age 2 - 17 Years) With Cerebral Palsy Completed NCT01893411 Phase 3 IncobotulinumtoxinA (16 Units per kg body weight);IncobotulinumtoxinA (12 Units per kg body weight);IncobotulinumtoxinA (4 Units per kg body weight)

Search NIH Clinical Center for Spastic Diplegia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Baclofen
Dantrolene
Dantrolene Sodium

Cochrane evidence based reviews: cerebral palsy

Genetic Tests for Spastic Diplegia

Anatomical Context for Spastic Diplegia

MalaCards organs/tissues related to Spastic Diplegia:

40
Brain, Bone, Testes, Spinal Cord, Heart, Bone Marrow, Liver

Publications for Spastic Diplegia

Articles related to Spastic Diplegia:

(show top 50) (show all 978)
# 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
Adeno-associated virus vectors are able to restore fatty aldehyde dehydrogenase-deficiency. Implications for gene therapy in Sjogren-Larsson syndrome. 54 61
15834613 2005
3
Abnormal corticospinal function but normal axonal guidance in human L1CAM mutations. 61 54
11701594 2001
4
Effect of Action Observation Training on Spasticity, Gross Motor Function, and Balance in Children with Diplegia Cerebral Palsy. 61
32570855 2020
5
Using the Edinburgh Visual Gait Score to Compare Ankle-Foot Orthoses, Sensorimotor Orthoses and Barefoot Gait Pattern in Children with Cerebral Palsy. 61
32492892 2020
6
Spastic Diplegia in a Haitian Girl with Angelman Syndrome. 61
32341813 2020
7
Incidence of spinal deformities and the relationship with physical status and back pain in ambulant adults with cerebral palsy and spastic diplegia. 61
31797136 2020
8
Lower Extremity Strength Profile in Ambulatory Adults with Cerebral Palsy and Spastic Diplegia: Norm Values and Reliability for Hand-Held Dynamometry. 61
31585499 2020
9
The level of accomplishment and satisfaction in activity and participation of adults with cerebral palsy and spastic diplegia. 61
31262451 2020
10
Muscle responses to radicular stimulation during lumbo-sacral dorsal rhizotomy for spastic diplegia: Insights to myotome innervation. 61
32199396 2020
11
Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum. 61
32395410 2020
12
A case study on interface pressure pattern of two garment orthoses on a child with cerebral palsy. 61
32459140 2020
13
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort. 61
32022389 2020
14
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms. 61
31735425 2020
15
PIGA related disorder as a range of phenotypes rather than two distinct subtypes. 61
31704190 2020
16
Cerebral palsy in children: a clinical overview. 61
32206590 2020
17
Modified split tendon transfer of posterior tibialis muscle in the treatment of spastic equinovarus foot deformity: long-term results and comparison with the standard procedure. 61
31740994 2020
18
Endoscopic Transverse Gastrocsoleus Recession in Children With Cerebral Palsy. 61
32266190 2020
19
Foot and Ankle Somatosensory Deficits Affect Balance and Motor Function in Children With Cerebral Palsy. 61
32161527 2020
20
Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability. 61
32153630 2020
21
Characteristics of dynamic standing balance with and without an insole in patients with spastic diplegia cerebral palsy. 61
32082023 2020
22
Daily activities, participation, satisfaction, and functional mobility of adults with cerebral palsy more than 25 years after selective dorsal rhizotomy: a long-term follow-up during adulthood. 61
31815556 2019
23
Total Anonychia, Spastic Diplegia, and Mental Retardation in an Indian Boy: A Novel Syndrome? 61
31896855 2019
24
Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency. 61
31501335 2019
25
Kinetic-based indexes for the functional evaluation of gait in diplegic children: a preliminary report. 61
31131627 2019
26
Cerebral Palsy. Considerations Upon 249 Consecutive Patients and Review of Literature. 61
32110443 2019
27
Comparison of Gait Ability of a Child with Cerebral Palsy According to the Difference of Dorsiflexion Angle of Hinged Ankle-Foot Orthosis: A Case Report. 61
31578314 2019
28
Gait Pattern of Adults with Cerebral Palsy and Spastic Diplegia More Than 15 Years after Being Treated with an Interval Surgery Approach: Implications for Low-Resource Settings. 61
31488936 2019
29
Pre- and Postoperative Gait Analysis and Video for Selective Dorsal Rhizotomy in Spastic Diplegia: 2-Dimensional Operative Video. 61
30590806 2019
30
Commentary: Pre- and Postoperative Gait Analysis and Video for Selective Dorsal Rhizotomy in Spastic Diplegia: 2-Dimensional Operative Video. 61
30888420 2019
31
Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development. 61
31484827 2019
32
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects. 61
31273323 2019
33
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism. 61
31276219 2019
34
Arginase Deficiency Presenting as Acute Encephalopathy. 61
31649772 2019
35
Peter Plus Syndrome: A Neurosurgeon's Perspective. 61
31649776 2019
36
Hamstring lengthening in females with cerebral palsy have greater effect than in males. 61
30925526 2019
37
Functional Outcome of Adulthood Selective Dorsal Rhizotomy for Spastic Diplegia. 61
31565593 2019
38
Percutaneous Versus Open Hamstring Lengthening in Spastic Diplegic Cerebral Palsy. 61
31448316 2019
39
Energy Expenditure Index as a measure of efficiency of walking on outdoor uneven surface in individuals with cerebral palsy. 61
31230483 2019
40
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. 61
30945334 2019
41
Surgical Outcomes of Single-Level Bilateral Selective Dorsal Rhizotomy for Spastic Diplegia in 150 Consecutive Patients. 61
30659965 2019
42
Emery-Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress-related spastic diplegia. 61
31110749 2019
43
Evaluation of independent versus integrated effects of reciprocal electrical stimulation and botulinum toxin-A on dynamic limits of postural stability and ankle kinematics in spastic diplegia: a single-blinded randomized trial. 61
29904047 2019
44
Use of 3D gait analysis as predictor of Achilles tendon lengthening surgery outcomes in children with cerebral palsy. 61
30156089 2019
45
Application of supervised machine learning algorithms in the classification of sagittal gait patterns of cerebral palsy children with spastic diplegia. 61
30665140 2019
46
Factors Associated With Long-Term Improvement of Gait After Selective Dorsal Rhizotomy. 61
29981315 2019
47
Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders. 61
30551056 2019
48
Voluntary Elbow Extension-Flexion Using Single Joint Hybrid Assistive Limb (HAL) for Patients of Spastic Cerebral Palsy: Two Cases Report. 61
30723447 2019
49
Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival. 61
30078639 2019
50
Passive range of motion changes in young children with spastic diplegia. A study during the initial stages of independent walking. 61
31227665 2019

Variations for Spastic Diplegia

ClinVar genetic disease variations for Spastic Diplegia:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ10 NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro)SNV Pathogenic 7462 rs137853066 1:160012129-160012129 1:160042339-160042339
2 SEPSECS NM_016955.4(SEPSECS):c.1028_1120+1deldeletion Likely pathogenic 183337 rs1553878395 4:25128885-25128978 4:25127263-25127356
3 SPAST NM_014946.3(SPAST):c.1276C>T (p.Leu426Phe)SNV Conflicting interpretations of pathogenicity 448444 rs1060502227 2:32361662-32361662 2:32136593-32136593
4 46;XY;t(10;14)(p13;q32.1)dnTranslocation Uncertain significance 267929

Expression for Spastic Diplegia

Search GEO for disease gene expression data for Spastic Diplegia.

Pathways for Spastic Diplegia

Pathways related to Spastic Diplegia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.09 RAB3GAP2 RAB3GAP1 RAB18
2 10.25 RAB3GAP2 RAB3GAP1 RAB18

GO Terms for Spastic Diplegia

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.43 TBC1D20 SPAST RAB3GAP2 RAB3GAP1 RAB18 ALDH3A2
2 endoplasmic reticulum tubular network GO:0071782 9.16 RAB3GAP1 RAB18
3 lipid droplet GO:0005811 8.8 SPAST RAB3GAP1 RAB18

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

# Name GO ID Score Top Affiliating Genes
1 regulation of T cell proliferation GO:0042129 9.4 TNFSF8 CTNNB1
2 seminiferous tubule development GO:0072520 9.37 TBC1D20 ATRX
3 positive regulation of autophagosome assembly GO:2000786 9.32 RAB3GAP2 RAB3GAP1
4 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.26 RAB3GAP2 RAB3GAP1
5 positive regulation of protein lipidation GO:1903061 9.16 RAB3GAP2 RAB3GAP1
6 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 8.96 RAB3GAP2 RAB3GAP1
7 lipid droplet organization GO:0034389 8.8 TBC1D20 RAB3GAP1 RAB18

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 TUBA1A TNFSF8 TBC1D20 SPAST SHANK2 SEPSECS
2 Rab GTPase binding GO:0017137 9.13 TBC1D20 RAB3GAP2 RAB3GAP1

Sources for Spastic Diplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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