MCID: TTH004
MIFTS: 50

Tethered Spinal Cord Syndrome

Categories: Neuronal diseases, Rare diseases
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Aliases & Classifications for Tethered Spinal Cord Syndrome

MalaCards integrated aliases for Tethered Spinal Cord Syndrome:

Name: Tethered Spinal Cord Syndrome 11 19 52 14 16 75
Spinal Dysraphism 11 28 5
Occult Spinal Dysraphism 19 33
Tethered Cord Syndrome 19 71
Spina Bifida Occulta with Tethered Spinal Cord 33
Occult Spinal Dysraphism Sequence 19
Segmental Vertebral Anomalies 19
Tethered Spinal Cord Disease 75
Sbo - [spina Bifida Occulta] 33
Cryptomerorachischisis 33
Spina Bifida Occulta 33
Tethered Cord 5

Classifications:



External Ids:

Disease Ontology 11 DOID:1089
SNOMED-CT 68 282784007
ICD11 33 449489594
UMLS 71 C0080218 C0560648

Summaries for Tethered Spinal Cord Syndrome

NINDS: 52 Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column.  Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord.  These attachments cause an abnormal stretching of the spinal cord.  The course of the disorder is progressive.  In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence.  This type of tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida.  Tethered spinal cord syndrome may go undiagnosed until adulthood, when pain, sensory and motor problems, and loss of bowel and bladder control emerge.  This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time and may be exacerbated during sports or pregnancy, or may be due to narrowing of the spinal column (stenosis) with age. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord.  Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia.  This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.

MalaCards based summary: Tethered Spinal Cord Syndrome, also known as spinal dysraphism, is related to sacral defect with anterior meningocele and meningocele. An important gene associated with Tethered Spinal Cord Syndrome is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Signal Transduction and Signaling by WNT. The drugs Drospirenone and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and bone, and related phenotypes are Decreased viability in pancreas lineage and nervous system

GARD: 19 Tethered cord syndrome is a rare neurological condition. The severity of the condition and the associated signs and symptoms vary from person to person. Features of the condition may include foot and spinal abnormalities; weakness in the legs; loss of sensation (feeling) in the lower limbs; lower back pain; scoliosis; and urinary incontinence. Infants and children with congenital Tethered cord syndrome may also have tufts of hair, dimples, skin discoloration, or benign fatty tumors on the lower back. Tethered cord syndrome occurs when tissue attachments limit the movement of the spinal cord within the spinal column. In some cases, it may be the result of improper growth of the neural tube during fetal development, which is closely linked to spina bifida. Other potential causes include narrowing of the spinal column (with age), spinal cord injury, tumors, and infection.

Wikipedia: 75 Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of... more...

Related Diseases for Tethered Spinal Cord Syndrome

Diseases related to Tethered Spinal Cord Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 381)
# Related Disease Score Top Affiliating Genes
1 sacral defect with anterior meningocele 30.5 VANGL1 MNX1 FZD6 CELSR1
2 meningocele 30.2 VANGL1 MNX1 FZD6 CELSR1 AFP
3 currarino syndrome 30.1 VANGL1 MNX1
4 spinal cord lipoma 30.0 VANGL2 VANGL1 SCRIB COX8C
5 cystic teratoma 29.9 MNX1 AFP
6 myelomeningocele 29.5 VANGL2 VANGL1 SCRIB MTHFD1 FZD6 CELSR1
7 spina bifida occulta 29.5 VANGL2 VANGL1 MTHFD1 CELSR1
8 anencephaly 28.5 VANGL2 VANGL1 SCRIB PRICKLE4 MTHFD1 FZD6
9 neural tube defects 27.8 VANGL2 VANGL1 SCRIB NKX2-8 MTHFD1 MNX1
10 acrofacial dysostosis, catania type 11.5
11 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects 11.5
12 camptodactyly syndrome, guadalajara, type iii 11.5
13 acrodysplasia scoliosis 11.5
14 primary tethered cord syndrome 11.4
15 gluteal muscles, absence of 11.3
16 hernández-aguirre negrete syndrome 11.3
17 medeira-dennis-donnai syndrome 11.3
18 structural brain anomalies with impaired intellectual development and craniosynostosis 11.3
19 bladder exstrophy and epispadias complex 11.1
20 secondary syringomyelia 11.1
21 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 11.1
22 posterior meningocele 11.1
23 spondylolysis 10.7
24 neural tube defects, folate-sensitive 10.6
25 hemangioma 10.6
26 spondylolisthesis 10.6
27 lipomatosis, multiple 10.6
28 myelocystocele 10.5
29 spina bifida aperta 10.5
30 chiari malformation 10.5
31 diastematomyelia 10.5
32 idiopathic syringomyelia 10.5
33 c syndrome 10.4
34 arthrogryposis, renal dysfunction, and cholestasis 1 10.4
35 urinary tract infection 10.4
36 spinal cord disease 10.4
37 spina bifida cystica 10.4
38 lipomyelomeningocele 10.4
39 anorectal anomalies 10.4
40 hydronephrosis 10.4
41 neurenteric cyst 10.4
42 chiari malformation type ii 10.3
43 ainhum 10.3
44 marfan syndrome 10.3
45 tuberous sclerosis 1 10.3
46 intervertebral disc disease 10.3
47 tuberous sclerosis 2 10.3
48 idiopathic scoliosis 10.3
49 tuberous sclerosis 10.3
50 muscular atrophy 10.3

Graphical network of the top 20 diseases related to Tethered Spinal Cord Syndrome:



Diseases related to Tethered Spinal Cord Syndrome

Symptoms & Phenotypes for Tethered Spinal Cord Syndrome

GenomeRNAi Phenotypes related to Tethered Spinal Cord Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in pancreas lineage GR00235-A 8.62 PRICKLE4 SCRIB

MGI Mouse Phenotypes related to Tethered Spinal Cord Syndrome:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.26 BRAF CELSR1 CREBBP DVL1 FZD3 FZD6
2 normal MP:0002873 10.15 AMOTL1 BRAF CREBBP DVL1 FZD3 FZD6
3 limbs/digits/tail MP:0005371 10.11 BRAF CELSR1 CREBBP FZD3 FZD6 MTHFD1
4 embryo MP:0005380 10.1 BRAF CELSR1 CREBBP DVL1 FZD3 FZD6
5 hearing/vestibular/ear MP:0005377 10.03 BRAF CELSR1 DVL1 FZD3 FZD6 SCRIB
6 neoplasm MP:0002006 9.99 AFP AMOTL1 BRAF CREBBP NKX2-8 SCRIB
7 cardiovascular system MP:0005385 9.97 AMOTL1 BRAF CREBBP DVL1 MNX1 MTHFD1
8 respiratory system MP:0005388 9.91 BRAF CELSR1 CREBBP FZD3 MNX1 NKX2-8
9 craniofacial MP:0005382 9.85 AMOTL1 BRAF CELSR1 CREBBP SCRIB VANGL2
10 reproductive system MP:0005389 9.81 AFP BRAF CELSR1 COX8C FZD3 FZD6
11 skeleton MP:0005390 9.56 BRAF CELSR1 CREBBP DVL1 FZD3 MNX1
12 mortality/aging MP:0010768 9.44 AMOTL1 BRAF CELSR1 CREBBP DVL1 FZD3

Drugs & Therapeutics for Tethered Spinal Cord Syndrome

Drugs for Tethered Spinal Cord Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Drospirenone Approved Phase 3 67392-87-4 68873
2 Calcium, Dietary Phase 3
3 Drospirenone and ethinyl estradiol combination Phase 3
4 Diuretics, Potassium Sparing Phase 3
5 diuretics Phase 3
6 Mineralocorticoids Phase 3
7 Mineralocorticoid Receptor Antagonists Phase 3
8
Calcium Nutraceutical Phase 3 7440-70-2 271
9
Acetazolamide Approved, Vet_approved Phase 2 59-66-5, 1424-27-7 1986
10
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
13 Carbonic Anhydrase Inhibitors Phase 2
14 Anticonvulsants Phase 2
15 Antibiotics, Antitubercular Phase 2
16 Antirheumatic Agents Phase 2
17 Calcineurin Inhibitors Phase 2
18 Cyclosporins Phase 2
19 Antifungal Agents Phase 2
20 Antilymphocyte Serum Phase 2
21 Thymoglobulin Phase 2
22 Antitubercular Agents Phase 2
23 Immunosuppressive Agents Phase 2
24 Dermatologic Agents Phase 2
25 Immunologic Factors Phase 2
26
Inositol Approved, Investigational, Withdrawn Phase 1 87-89-8
27
Dexmedetomidine Approved, Experimental, Vet_approved Phase 1 86347-14-0, 113775-47-6 68602 5311068
28
Ketamine Approved, Vet_approved Phase 1 6740-88-1, 1867-66-9 3821
29
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 1 437-38-7 3345
30
Propofol Approved, Investigational, Vet_approved Phase 1 2078-54-8 4943
31 Anesthetics Phase 1
32 Anesthetics, General Phase 1
33 Neurotransmitter Agents Phase 1
34 Excitatory Amino Acid Antagonists Phase 1
35 Anesthetics, Intravenous Phase 1
36 Anesthetics, Dissociative Phase 1
37 Hypnotics and Sedatives Phase 1
38 Analgesics Phase 1
39
Cefoxitin Approved 35607-66-0 441199
40
Cefotaxime Approved 63527-52-6 5742673 456256
41
Rifampicin Approved 13292-46-1 135512673 5381226 135900090
42
Pamidronic acid Approved 40391-99-9 4674
43
Metformin Approved 1115-70-4, 657-24-9 4091
44
Mometasone furoate Approved, Investigational, Vet_approved 83919-23-7 4240 441336
45
Caffeine Approved 58-08-2 2519
46
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
47
Tannic acid Approved 1401-55-4 16129878 16129778
48
Pyrantel Approved, Vet_approved 15686-83-6
49
Cholecalciferol Approved, Nutraceutical, Vet_approved 67-97-0, 1406-16-2 5280795 10883523
50
Bisphenol A Experimental 80-05-7 6623

Interventional clinical trials:

(show top 50) (show all 110)
# Name Status NCT ID Phase Drugs
1 Multi-Center, Randomized, Double-Blind Active-Controlled, Parallel Group Study to Investigate Plasma Folate, Red Blood Cell Folate and Homocysteine Levels During a 24 Week Oral Administration of an OC Containing Folate Compared to OC Alone Completed NCT00468481 Phase 3 Drospirenone/Ethinylestradiol/Methyltetrahydrofolate;Drospirenone/Ethinylestradiol (Yaz)
2 A Randomized, Double-Blind, Two-Part, Parallel-Group, Comparative Study to Evaluate Blood Folate Levels in Women Taking an Oral Contraceptive With and Without Folic Acid Withdrawn NCT00301587 Phase 3 Norgestimate-ethinyl estradiol, with or without folic acid
3 Evaluating the Effect of Acetazolamide Administration and Prone Positioning Following Lumbosacral Spinal Surgery in Preventing Cerebro Spinal Fluid Leakage and Collection and Wound Dehiscence in Children. Unknown status NCT01867268 Phase 2 Acetazolamide
4 Lumbar to Sacral Ventral Nerve Re-Routing Completed NCT00378664 Phase 2
5 Coping Skills Training (CST) for Children With Chronic Health Conditions: An Extension From Children With Diabetes to Children With Rheumatologic Conditions, Epilepsy, Spina Bifida, and Asthma Completed NCT00359775 Phase 2
6 Post Transplant Infusion of Allogeneic Cytokine Induced Killer Cells as Consolidative Therapy After Non-Myeloablative Allogeneic Transplantation in Patients With Myelodysplasia or Myeloproliferative Disorders Completed NCT01392989 Phase 2 CIK cells;Cyclosporine;Mycophenolate Mofetil;Thymoglobulin
7 Phase II Pilot Randomized-Controlled Trial for the Investigation of the Preliminary Efficacy of Surgical Sectioning of the Filum Terminale in Treating Occult Tethered Cord Syndrome Patients Recruiting NCT05163899 Phase 2
8 Probiotics Improvement of Gastrointestinal and Genitourinary Health in Girls With Spina Bifida (H-23245) Withdrawn NCT00767988 Phase 2
9 Prevention of Neural Tube Defects by Inositol in Conjunction With Folic Acid (PONTI Study) Completed NCT00452829 Phase 1 Folic Acid and inositol;Folic acid and placebo
10 Autologous Bone Marrow Mononuclear Cell Administration in the Treatment of Neurologic Sequela in Children With Spina Bifida Completed NCT05472428 Phase 1
11 A Comparative Study of the Effect of Propofol Infusion Versus the Combination of Ketamine and Dexmedetomidine Infusion on the Amplitude of Motor Evoked Potential in Pediatrics Undergoing Tethered Spinal Cord Surgeries a Randomized, Double-blinded Controlled Study Recruiting NCT05591001 Phase 1 ketamine and dexmeditomidine combination;Propofol
12 Study to Compare 2 Minimally Invasive Fetal Neural Tube Defect Repair Techniques: Repair Using Durepair Patch vs. Repair Without Durepair Patch Active, not recruiting NCT03794011 Phase 1
13 Minimally Invasive Fetal Neural Tube Defect Repair Study Active, not recruiting NCT02230072 Phase 1
14 Knowledge and Follow-up of Vitamin B9 Supplementation Recommendations for Women in the Periconceptional Period to Prevent Neural Tube Closure Defects: a Study Conducted With Health Professionnals and Women Who Have Just Given Birth in Rennes CHU. Unknown status NCT04195542
15 Assessment of Functional Independence and Quality of Life in Italian Population of Adolescents With Spina Bifid Unknown status NCT00966927
16 Fecal Microbium Change in Pediatric Patients With Spina Bifida: Prospective Case-control Study Unknown status NCT04186130
17 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
18 Powder Topical Rifampicin on Reducing Infections After Neural Tube Defect Surgery in Infants Unknown status NCT03198819 Local Rifampisin and İnrtravenous cefotaxime
19 Open Spina Bifida Fetoscopic Repair Project Unknown status NCT03562286
20 Interrater and Intrarater Reliability of Infant Motor Profile: Assessing Motor Profiles of Risky Infants Unknown status NCT03188107
21 The Spina Bifida Research Resource Unknown status NCT00031122
22 Spina Bifida in Daily Life: an Exploratory Study Unknown status NCT03148301
23 Anorectal Dysfunction in Patients Suffering From Spina Bifida : From Clinic to Neuro-epithelial Function Unknown status NCT02440984
24 Genetics of Neural Tubes Defects Unknown status NCT01253746
25 Efficacy and Safety of Nerve Root Axial Decompression Surgery in The Treatment of Tethered Cord Syndrome: A Conservative Treatment- Controlled, Randomized, Clinical Study Unknown status NCT03262844
26 Urological Deterioration in Secondary Tethered Cord Syndrome and Clue to Detect It Completed NCT04483570
27 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
28 The LETS Study: A Longitudinal Evaluation of Transition Services Completed NCT00975338
29 Myelomeningocele Repair Randomized Trial Completed NCT00060606
30 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 pamidronate
31 The Effectiveness of Participation-focused Interventions on Body Functions of Youth With Physical Disabilities: An Interrupted Time Series Design Completed NCT03851107
32 Impact of Prenatal Correction of Spina Bifida Using Fetoscopy and the SAFER Technique on Long-term Neurodevelopment. Completed NCT04356703
33 Parental Perspectives of Using Modified Toy Cars on the Social Interactions of Preschool Children With Mobility Impairments. Completed NCT02682043
34 Urological and Renal Disease Engaging Adolescents in Adherence Collaborative Trial Completed NCT03045276
35 Is Neutrophil to Lymphocyte Ratio a Prognostic Factor of Sepsis in Newborns With Operated Neural Tube Defects? Completed NCT04135274
36 Metformin in Children With Motor Deficit Completed NCT00720161 Metformin;placebo
37 3D-printed Module-assisted Minimally Invasive Lumbar Pedicle Screw Placement: a Retrospective, Self-controlled, Open-label Clinical Trial Completed NCT02970578
38 A Randomized Exercise Trial for Wheelchair Users Completed NCT00866112
39 Efficacy of Weekly Versus Daily Folic Acid Supplementation Completed NCT00394862 multivitamin
40 Retrograde Colonic Irrigation to Manage Spina Bifida Functional Digestive Sequelae: a Multicenter, Prospective, Randomized Controlled Trial Completed NCT02361450
41 Medication Management Among Individuals With Neurodevelopmental Disabilities Completed NCT03121651
42 A Peer E-mentoring Intervention to Improve Transition to Employment for Youth With Physical Disabilities Completed NCT02522507
43 Fetal Spina Bifida -Prenatal Course and Outcome in 103 Cases A Single Center Experience. Completed NCT01100697
44 Awareness Levels of Caregivers of Disabled Children About Children's Illness, Physiotherapy and Sports Activities Completed NCT05228405
45 Evaluating the Effectiveness of a Serious Game to Enhance Self-Management Skills Among Adolescents and Young Adults With Spinal Cord Dysfunction Completed NCT02341950
46 Post-operative Use of Lite Run in a Pediatric Population With Cerebral Palsy Completed NCT03135145
47 The Relationship Between Nocturnal Enuresis And Spina Bifida Occulta: A Prospective Controlled Trial Completed NCT03543995
48 Investigation of Parents' Anxiety Level and Health Related Quality of Life in Different Types of Physical Disabilities Completed NCT04035967
49 Use of a Diurnal Indwelling Urethral Catheter to Improve Quality of Life for Patients With Spina Bifida and Spinal Cord Injury Completed NCT03573726
50 Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions Completed NCT02428673

Search NIH Clinical Center for Tethered Spinal Cord Syndrome

Genetic Tests for Tethered Spinal Cord Syndrome

Genetic tests related to Tethered Spinal Cord Syndrome:

# Genetic test Affiliating Genes
1 Spinal Dysraphism 28

Anatomical Context for Tethered Spinal Cord Syndrome

Organs/tissues related to Tethered Spinal Cord Syndrome:

MalaCards : Spinal Cord, Skin, Bone, Bone Marrow, Prostate, Neutrophil, Brain

Publications for Tethered Spinal Cord Syndrome

Articles related to Tethered Spinal Cord Syndrome:

(show top 50) (show all 2921)
# Title Authors PMID Year
1
Perspective on inflammatory cytokines in open spinal dysraphism. 62
35900420 2023
2
Late diagnosis of dorsolumbar lipomyelomeningocele with tethered cord in a middle aged adult: A case report from Nepal. 62
36189164 2022
3
Prenatal intracranial hypotension syndrome: new insights into the mechanisms of fenestration of septi pellucidi and ventriculomegaly in fetuses with open spinal dysraphism. 62
34074204 2022
4
[Analysis of anorectal manometry data in central and peripheral neurological deseases: Review of the literature]. 62
36030152 2022
5
Aetiology and diagnostics of paediatric hydrocephalus across Africa: a systematic review and meta-analysis. 62
36400085 2022
6
Central nervous system involvement in individuals with RASopathies. 62
36454176 2022
7
Spinal manifestations of Ehlers-Danlos syndrome: a scoping review. 62
35986728 2022
8
Utilizing pre- and postoperative radiological parameters to predict surgical outcomes following untethering for tethered cord syndrome in a pediatric population. 62
36461831 2022
9
Successfully treatment of tethered cord syndrome secondary to progressive-development giant myelomeningocele by surgical repair within intraoperative neurophysiological monitoring in an infant: A case report. 62
36347745 2022
10
[Surgery for Spinal Lipoma of the Conus Medullaris]. 62
36426522 2022
11
[Filum Lipoma]. 62
36426521 2022
12
Differences in rectoanal inhibitory reflex duration between patients with refractory functional constipationand myelomeningocele. 62
36413143 2022
13
Primary vs patch-based skin closure for in-utero spina bifida repair. 62
35751885 2022
14
The incidence of congenital lumbosacral malformations in young male Turkish military school candidates population. 62
34391615 2022
15
Electrodiagnosis has a potential to identify neural damage in asymptomatic infants with closed spinal dysraphism. 62
36445470 2022
16
Long-term results of artificial urinary sphincter implantation for urinary incontinence due to intrinsic sphincter deficiency in children. 62
36434815 2022
17
Tethered cord release in patients after open fetal myelomeningocele closure: intraoperative neuromonitoring data and patient outcomes. 62
36380051 2022
18
Assessment of MRI and Ultrasound Screening for Tethered Cord Syndrome in Patients Diagnosed With Esophageal Atresia/Tracheoesophageal Fistula. 62
35779449 2022
19
Novel use of nonpenetrating titanium clips for pediatric primary spinal dural closure: A technical note. 62
36084429 2022
20
Effect of untethering on occult tethered cord syndrome: a systematic review. 62
34709093 2022
21
Thoracolumbar surgery for degenerative spine diseases complicated with tethered cord syndrome: A case report. 62
36246831 2022
22
Long-term outcomes of augmentation cystoplasty: A retrospective view of 54 children. 62
35780052 2022
23
Split cord malformation concomitant with spinal teratoma without open spinal dysraphism. 62
35687168 2022
24
Anorectal malformation, urethral duplication, occult spinal dysraphism (ARM-UD-OSD): a challenging uncommon association. 62
35882671 2022
25
Multidisciplinary Management of Children with Occult Spinal Dysraphism: A Comprehensive Journey from Birth to Adulthood. 62
36291482 2022
26
Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) - A Fetal Autopsy Case. 62
35276380 2022
27
Full-Endoscopic Discectomy in an Adult Postoperative Spinal Dysraphism Patient: A Case Report. 62
36348876 2022
28
Presacral mature cystic teratoma associated with Currarino syndrome in an adolescent with androgen insensitivity: illustrative case. 62
36317236 2022
29
MRI characteristics of the fetal tethered spinal cord: a comparative study. 62
33272085 2022
30
Detection and Management of Tethered Cord in Anorectal Malformation: A Survey of Pediatric Neurosurgeons in the United States. 62
36257293 2022
31
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord. 62
36250278 2022
32
Not Just an Anchor: The Human Filum Terminale Contains Stretch Sensitive and Nociceptive Nerve Endings and Responds to Electrical Stimulation With Paraspinal Muscle Activation. 62
35852974 2022
33
First report of tethered cord syndrome in a patient with Verheij syndrome. 62
36134573 2022
34
Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study. 62
35317943 2022
35
Neuromuscular scoliosis in the presence of spina bifida occulta and a transitional lumbosacral vertebra: A case report. 62
35818451 2022
36
Huge unrepaired myelocystocele, progressive sac enlargement in later stages of life: a case report. 62
36074342 2022
37
Reduction of transverse rectal diameter and its effect on bladder dynamics in children with spinal dysraphism. 62
36131256 2022
38
[Prioritization of risk situations in neuro-urology: Guidelines based on the Delphi method from Association française d'urologie (AFU), Association francophone internationale des groupes d'animation de la paraplégie (AFIGAP), Groupe de neuro-urologie de langue française (GENULF), Société française de médecine physique et de réadaptation (SOFMER) and Société interdisciplinaire francophone d'urodynamique et de pelvi-périnéologie (SIFUD-PP)]. 62
35659166 2022
39
Fetal MRI Neuroradiology: Indications. 62
36113923 2022
40
Imaging of Congenital Spine Malformations. 62
36113926 2022
41
Progressive-Tension Sutures in Reconstruction of Posterior Trunk Defects in Pediatric Patients: A Prospective Series. 62
35674641 2022
42
Successful annuloplasty using the cone-beam computed tomography-assisted radiofrequency thermocoagulation system in a patient with severe vertebral deformity: a case report. 62
35962238 2022
43
Evidence-based position paper of the UEMS PRM on the role of Physical and Rehabilitation Medicine (PRM) physician in the management of children and adults with spinal dysraphism. 62
35575455 2022
44
Conservative Treatment and Unfavorable Factors to Bone Healing of "Pre-lysis"-Stage Lumbar Spondylolysis in Adolescents. 62
35989507 2022
45
Comparison of the electrophysiological characteristics of tight filum terminale and tethered cord syndrome. 62
35790608 2022
46
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia. 62
35318877 2022
47
Paraplegia due to spinal epidural lipoma without spinal dysraphism in an adolescent patient: a case report. 62
36237883 2022
48
Intra-Operative Neurophysiological Monitoring in Patients with Intraspinal Abnormalities Undergoing Posterior Spinal Fusion. 62
35711107 2022
49
Clinical Reasoning: A 68-Year-Old Man With Palmar Rash, Leg Pain, and Inability to Walk. 62
35705498 2022
50
Intramedullary Spinal Cord Abscess with Concomitant Spinal Degenerative Diseases: A Case Report and Systematic Literature Review. 62
36079075 2022

Variations for Tethered Spinal Cord Syndrome

ClinVar genetic disease variations for Tethered Spinal Cord Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRAF NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) SNV Pathogenic
13980 rs180177041 GRCh37: 7:140476806-140476806
GRCh38: 7:140777006-140777006
2 AMOTL1 NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) SNV Likely Pathogenic
929484 rs1951433087 GRCh37: 11:94532835-94532835
GRCh38: 11:94799669-94799669
3 CREBBP NM_004380.3(CREBBP):c.6185_6195del (p.Ile2062fs) DEL Likely Pathogenic
523472 rs1555471098 GRCh37: 16:3778853-3778863
GRCh38: 16:3728852-3728862

Expression for Tethered Spinal Cord Syndrome

Search GEO for disease gene expression data for Tethered Spinal Cord Syndrome.

Pathways for Tethered Spinal Cord Syndrome

Pathways related to Tethered Spinal Cord Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1 13.43 AMOTL1 BRAF CREBBP DVL1 FZD3 FZD6
2
Show member pathways
12.18 VANGL2 SCRIB FZD6 FZD3 DVL1 CREBBP
3
Show member pathways
12.17 FZD6 FZD3 DVL1 BRAF
4 12.16 FZD6 FZD3 DVL1 CREBBP
5
Show member pathways
11.88 FZD6 FZD3 DVL1
6 11.88 VANGL1 SCRIB FZD6 AFP
7 11.85 FZD6 FZD3 DVL1
8
Show member pathways
11.81 VANGL2 VANGL1 FZD6 FZD3 DVL1 CREBBP
9
Show member pathways
11.79 VANGL2 VANGL1 SCRIB
10 11.78 FZD6 FZD3 DVL1 BRAF
11 11.76 FZD6 FZD3 DVL1
12 11.73 FZD6 FZD3 DVL1
13
Show member pathways
11.72 FZD6 FZD3 DVL1
14 11.6 FZD6 FZD3 DVL1 BRAF
15 11.39 FZD6 FZD3 DVL1

GO Terms for Tethered Spinal Cord Syndrome

Cellular components related to Tethered Spinal Cord Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 9.23 VANGL2 VANGL1 FZD3 DVL1

Biological processes related to Tethered Spinal Cord Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 canonical Wnt signaling pathway GO:0060070 10.01 FZD6 FZD3 DVL1
2 Wnt signaling pathway GO:0016055 9.88 FZD6 FZD3 DVL1 AMOTL1
3 inner ear morphogenesis GO:0042472 9.85 FZD6 FZD3 CELSR1
4 apical protein localization GO:0045176 9.83 VANGL2 CELSR1
5 hair follicle development GO:0001942 9.8 FZD6 FZD3 CELSR1
6 cell proliferation in midbrain GO:0033278 9.73 FZD6 FZD3
7 neural tube closure GO:0001843 9.73 VANGL2 SCRIB MTHFD1 FZD6 FZD3 CELSR1
8 establishment of planar polarity GO:0001736 9.7 VANGL2 FZD6 FZD3 CELSR1
9 motor neuron migration GO:0097475 9.69 FZD3 CELSR1
10 planar cell polarity pathway involved in neural tube closure GO:0090179 9.67 DVL1 CELSR1
11 establishment of body hair planar orientation GO:0048105 9.67 CELSR1 FZD6
12 non-canonical Wnt signaling pathway GO:0035567 9.65 FZD6 FZD3 DVL1
13 midbrain morphogenesis GO:1904693 9.62 FZD3 FZD6
14 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.4 VANGL2 VANGL1 FZD6 FZD3 DVL1 CELSR1

Molecular functions related to Tethered Spinal Cord Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Wnt receptor activity GO:0042813 8.92 FZD6 FZD3

Sources for Tethered Spinal Cord Syndrome

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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