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MCID: TTH004
MIFTS: 38

Tethered Spinal Cord Syndrome

Categories: Neuronal diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Tethered Spinal Cord Syndrome

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MalaCards integrated aliases for Tethered Spinal Cord Syndrome:

Name: Tethered Spinal Cord Syndrome 12 54 15
Spinal Dysraphism 12 29 6 44
Tethered Spinal Cord Disease 76

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:1089
ICD10 33 Q05 Q05.9
ICD9CM 35 741
MeSH 44 D016135
NCIt 50 C101214
UMLS 73 C0080178
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Summaries for Tethered Spinal Cord Syndrome

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NINDS : 54 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 tethered cord syndrome and primary tethered cord syndrome. An important gene associated with Tethered Spinal Cord Syndrome is COX8C (Cytochrome C Oxidase Subunit 8C). The drugs Acetylcholine and Oxybutynin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, colon and bone, and related phenotypes are nervous system and respiratory system

Wikipedia : 76 Tethered cord syndrome (TCS) or occult spinal dysraphism sequence refers to a group of neurological... more...

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Related Diseases for Tethered Spinal Cord Syndrome

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

# Related Disease Score Top Affiliating Genes
1 tethered cord syndrome 11.3
2 primary tethered cord syndrome 11.3
3 myelomeningocele 10.0
4 diastematomyelia 9.9
5 encephalocraniocutaneous lipomatosis 9.9
6 neurogenic bladder 9.9
7 lipomatosis 9.9
8 anus, imperforate 9.6 KIDINS220 MNX1

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



Diseases related to Tethered Spinal Cord Syndrome
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Symptoms & Phenotypes for Tethered Spinal Cord Syndrome

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MGI Mouse Phenotypes related to Tethered Spinal Cord Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 HOXA1 KIDINS220 MNX1 NKX2-8 TCOF1
2 respiratory system MP:0005388 8.92 HOXA1 MNX1 NKX2-8 TCOF1
Sources

Drugs & Therapeutics for Tethered Spinal Cord Syndrome

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

(show top 50) (show all 150)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3 51-84-3 187
2
Oxybutynin Approved, Investigational Phase 4,Phase 3 5633-20-5 4634
3
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
4
Glycerol Approved, Investigational Phase 4 56-81-5 753
5 abobotulinumtoxinA Phase 4,Phase 3
6 Botulinum Toxins Phase 4,Phase 3
7 Botulinum Toxins, Type A Phase 4,Phase 3
8 Cholinergic Agents Phase 4,Phase 3
9 Neuromuscular Agents Phase 4,Phase 3
10 Neurotransmitter Agents Phase 4,Phase 3
11 onabotulinumtoxinA Phase 4,Phase 3
12 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
13 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Not Applicable
14 Autonomic Agents Phase 4,Phase 3
15 Cholinergic Antagonists Phase 4,Phase 3
16 Mandelic Acids Phase 4,Phase 3
17 Muscarinic Antagonists Phase 4,Phase 3
18 Parasympatholytics Phase 4,Phase 3
19 Renal Agents Phase 4,Phase 3
20 Anti-Infective Agents, Local Phase 4,Not Applicable
21 Chlorhexidine gluconate Phase 4
22 Dermatologic Agents Phase 4,Phase 3,Phase 2,Not Applicable
23 Disinfectants Phase 4
24 Pharmaceutical Solutions Phase 4,Not Applicable
25 Protective Agents Phase 4,Phase 3
26 Cola Nutraceutical Phase 4,Not Applicable
27
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
28 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8
29
Polyestradiol phosphate Approved Phase 3 28014-46-2
30
Drospirenone Approved Phase 3 67392-87-4 68873
31
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
32
Hydroxocobalamin Approved Phase 3,Not Applicable 13422-51-0 11953898 44475014
33
Copper Approved, Investigational Phase 3 7440-50-8 27099
34
Iodine Approved, Investigational Phase 3 7553-56-2 807
35
Iron Approved Phase 3 7439-89-6 23925
36
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
37
Zinc Approved, Investigational Phase 3 7440-66-6 23994
38
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Not Applicable 59-30-3 6037
39
leucovorin Approved, Nutraceutical Phase 3,Phase 1,Not Applicable 58-05-9 143 6006
40
Cyanocobalamin Approved, Nutraceutical Phase 3,Not Applicable 68-19-9 44176380
41
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 3,Not Applicable 13422-55-4
42
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
43
Nicotinamide Approved, Investigational, Nutraceutical Phase 3 98-92-0 936
44 Orange Approved, Nutraceutical Phase 3
45
Pyridoxal Approved, Nutraceutical Phase 3 66-72-8 1050
46
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
47
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
48
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 59-43-8, 70-16-6 1130
49
Tocopherol Approved, Investigational, Nutraceutical Phase 3 1406-66-2 14986
50
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 11103-57-4, 68-26-8 445354

Interventional clinical trials:

(show top 50) (show all 131)
# Name Status NCT ID Phase Drugs
1 Effect of Botulinum Toxin in Neurogenic Bladders in Children With Myelomeningocele Unknown status NCT00175123 Phase 4 Botulinum A toxin
2 Safety and Efficacy Study of Transdermal Oxybutynin to Treat Overactive Bladder With a Neurological Condition Completed NCT00224016 Phase 4 Oxybutynin;Oxybutynin
3 Post-Operative Colonization Rates of Femoral Nerve Catheters Treated With Chlorhexidine-Impregnated Patch Completed NCT01411891 Phase 4
4 A Within Subjects Comparison of Two Antegrade Flushing Regimens in Children Recruiting NCT02435069 Phase 4 NS and USP Glycerin - Dose Response;NS and USP Glycerin - Effectiveness
5 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
6 Efficacy and Safety Study for an Oral Contraceptive Containing Folate Completed NCT00468481 Phase 3 Drospirenone/Ethinylestradiol/Methyltetrahydrofolate;Drospirenone/Ethinylestradiol (Yaz)
7 Children Toxine Botulinum Detrusor Injection in Neurogenic Vesical Hyperactivity Syndrom: Non Inferiority Multicenter Controlled Therapeutic Study Between Two Reported Weight's Doses Completed NCT02816151 Phase 3 full dose at 16 UI/kg for Dysport or 6,5 UA/kg for Botox;half dose at 8 UI/kg for Dysport or 3,25 UA/kg for Botox
8 Botox Versus Oxybutynin as First Line Treatment for the Poorly Compliant Pediatric Neurogenic Bladder Completed NCT01716624 Phase 3 Oxybutynin;Botulinum Toxin A injection
9 Study of Treatment With the Combination of Drospirenone Plus Ethinyl Estradiol Plus Levomefolate Calcium in Mexican Women Seeking Contraception Completed NCT01902264 Phase 3 EE20/DRSP/L-5-MTHF (Beyaz, BAY98-7071)
10 Duragen Versus Duraguard in Chiari Surgery Completed NCT00741858 Phase 3
11 Randomized Controlled Trial of Shunt vs ETV/CPC for PIH in Ugandan Infants Active, not recruiting NCT01936272 Phase 3
12 Impact of Pre-pregnancy Micronutrient Supplementation on Maternal and Child Outcomes Active, not recruiting NCT01665378 Phase 3
13 A Study to Evaluate Folate Levels in Women Taking Oral Contraceptives Withdrawn NCT00301587 Phase 3 Norgestimate-ethinyl estradiol, with or without folic acid
14 Effect of Acetazolamide & Position in CSF Leakage and Collection and Wound Dehiscence Unknown status NCT01867268 Phase 2 Acetazolamide
15 Lumbar to Sacral Ventral Nerve Re-Routing Completed NCT00378664 Phase 2
16 Coping Skills Training (CST) for Children With Chronic Health Conditions Completed NCT00359775 Phase 2
17 Post T-plant Infusion of Allogeneic Cytokine Induced Killer Cells as Consolidative Therapy in Myelodysplastic Syndromes/Myeloproliferative Disorders Completed NCT01392989 Phase 2 CIK cells;Cyclosporine;Mycophenolate Mofetil;Thymoglobulin
18 Impact of Probiotics on Urinary Symptoms in Spinal Cord Injury SCI and SB Active, not recruiting NCT02748356 Phase 2 Lactobacillus
19 Impact of Probiotics on Urinary Symptoms in Spinal Cord Injury SCI and SB Active, not recruiting NCT02748317 Phase 2 Lactobacillus rhamnosus GG
20 Augmentation Cystoplasty Using an Autologous Neo-Bladder Terminated NCT00419120 Phase 2
21 Probiotics in Girls With Spina Bifida Withdrawn NCT00767988 Phase 2
22 Efficacy of Acetaminophen in Posterior Fossa Surgery Withdrawn NCT02532322 Phase 2 IV acetaminophen;normal saline
23 Bacteriuria Eradication Through Probiotics Unknown status NCT00717600 Phase 1
24 Does Mid-Gestation Placental Function Assessment Reduce Psychological Distress in Women With High-Risk Pregnancies? Unknown status NCT00546026 Phase 1
25 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
26 Fetoscopic Meningomyelocele Repair Study Recruiting NCT02230072 Phase 1
27 Pain Biomarker Study Active, not recruiting NCT03511846 Phase 1 Oral capsaicin;Topical capsaicin;Intranasal capsaicin;Low Flow Oxygen;High Flow Oxygen
28 Genetics of Neural Tube Defects Unknown status NCT01253746
29 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
30 Self-esteem and Neuro-urological Follow-up in Patients With Spina Bifida or Spinal Cord Injury Unknown status NCT01606618
31 Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing Unknown status NCT02854150
32 Study of Genetic Risk Factors for Spina Bifida and Anencephaly Unknown status NCT00031122
33 Urinary Markers of Detrusor Overactivity in Spina Bifida Patients Unknown status NCT02852317
34 Assessment of Functional Independence and Quality of Life in Adolescents With Spina Bifid Unknown status NCT00966927
35 The LETS Study: A Longitudinal Evaluation of Transition Services Unknown status NCT00975338
36 Effect of Psycho-education on Gestational Weight Gain and Anxiety/Depression in Obese Pregnant Women Unknown status NCT01329835 Not Applicable
37 Chiari Study Looking at Use of Duragen Versus Duraguard Unknown status NCT00565435
38 Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407 Not Applicable
39 Hemangioma Associated With High Rates of Morbidity Completed NCT00394888 Not Applicable
40 Treatment of Persistent Urinary Incontinence in Children Completed NCT00124046 Not Applicable
41 Comparing Urinary Tract Infections in Children With Spina Bifida Using Two Types of Catheters for Catheterization Completed NCT01263392 Not Applicable
42 Outcome of Fetal Spina Bifida Completed NCT01100697
43 The Relationship Between Nocturnal Enuresis And Spina Bifida Occulta Completed NCT03543995
44 Cognitive Rehabilitation in Patients With Spina Bifida Completed NCT01302314 Not Applicable
45 Management of Myelomeningocele Study (MOMS) Completed NCT00060606 Not Applicable
46 Sterile Single-use vs Reused Polyvinylchloride Catheter For Intermittent Catheterization In Neurogenic Bladder Completed NCT03424499 Not Applicable
47 Use of a Diurnal Indwelling Urethral Catheter to Improve Quality of Life Completed NCT03573726 Not Applicable
48 Influence of "Espresso" on Adsorption of Myo-inositol Completed NCT01244399
49 Metformin in Children With Motor Deficit Completed NCT00720161 Not Applicable Metformin;placebo
50 3D-printed Module-assisted Minimally Invasive Lumbar Pedicle Screw Placement Completed NCT02970578 Not Applicable

Search NIH Clinical Center for Tethered Spinal Cord Syndrome

Cochrane evidence based reviews: spinal dysraphism

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Genetic Tests for Tethered Spinal Cord Syndrome

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Genetic tests related to Tethered Spinal Cord Syndrome:

# Genetic test Affiliating Genes
1 Spinal Dysraphism 29
Sources

Anatomical Context for Tethered Spinal Cord Syndrome

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MalaCards organs/tissues related to Tethered Spinal Cord Syndrome:

41
Spinal Cord, Colon, Bone, Testes, Skin, Brain, Heart
Sources

Publications for Tethered Spinal Cord Syndrome

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Articles related to Tethered Spinal Cord Syndrome:

(show top 50) (show all 190)
# Title Authors Year
1
Cervical myelocystocele: rare presentation of spinal dysraphism. ( 29707214 )
2018
2
Curved Planar Reformation for the Evaluation of Hydromyelia in Patients with Scoliosis Associated with Spinal Dysraphism. ( 28604485 )
2017
3
Re: Low Prevalence of Latex Allergy in Children with Spinal Dysraphism in Non-Latex-Free Environment. ( 29370631 )
2017
4
Magnetic Resonance Imaging in Paediatric Spinal Dysraphism with Comparative Usefulness of Various Magnetic Resonance Sequences. ( 28969239 )
2017
5
Meningocele manquAc: a comprehensive review of this enigmatic finding in occult spinal dysraphism. ( 28620735 )
2017
6
Evaluation and management of tethered cord syndrome in occult spinal dysraphism: Recommendations from the international children's continence society. ( 28792087 )
2017
7
Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis. ( 27651783 )
2016
8
Klippel-Feil Syndrome With Spinal Dysraphism: Diastematomyelia on 18F-NaF Bone PET, CT, and MRI Imaging. ( 26859203 )
2016
9
Post-hemorrhagic hydrocephalus presenting as cauda equina syndrome in a patient with spinal dysraphism. ( 26675625 )
2016
10
Adults with myelomeningocele and other forms of spinal dysraphism: hospital care in the United States since the turn of the millennium. ( 26926705 )
2016
11
Low prevalence of latex allergy in children with spinal dysraphism inA non-latex-free environment. ( 26388261 )
2016
12
[Surgical treatment outcomes in children with tethered spinal cord syndrome. A prognosis on the basis of spinal 3T MRI tractography]. ( 27296539 )
2016
13
Intracranial hemorrhage following surgery for occult spinal dysraphism. Reply to E.M.J. Cornips and J. van Aalts' letter to the editor. ( 26314879 )
2015
14
Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature. ( 28503585 )
2015
15
Faun Tail Overlying Spinal Dysraphism (Diastematomyelia) at the Mid Thoracic Level: Cosmetic Improvement Achieved with Diode Laser Epilation. ( 26677308 )
2015
16
Diastematomyelia with hemimyelomeningocele: An exceptional and complex spinal dysraphism. ( 26557164 )
2015
17
Sonographic images of fetal terminal myelocystocele: a rare form of closed spinal dysraphism. ( 26358950 )
2015
18
Occult spinal dysraphism: a challenge in pain management. ( 25794223 )
2015
19
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. ( 26167215 )
2015
20
Systematic Review of Urologic Outcomes from Tethered Cord Release in Occult Spinal Dysraphism in Children. ( 26396132 )
2015
21
Contiguous triple spinal dysraphism associated with Chiari malformation Type II and hydrocephalus: an embryological conundrum between the unified theory of Pang and the unified theory of McLone. ( 26474100 )
2015
22
Intracranial hemorrhage following surgery for occult spinal dysraphism: a case-based update. ( 25810262 )
2015
23
"Giant" terminal myelocystocele: A rare variant of spinal dysraphism. ( 26425175 )
2015
24
"Intracranial hemorrhage following surgery for occult spinal dysraphism: a case-based update." Child's Nervous System, June 2015, volume 31, issue 6, pp. 837-842. ( 26337701 )
2015
25
Rhabdomyomatous mesenchymal hamartoma presenting as a sacral skin tag in two neonates with spinal dysraphism. ( 25989364 )
2015
26
Mullerian choristoma in a case of spinal dysraphism. ( 25885142 )
2015
27
Morphometric analysis of lumbar pedicles in patients with spinal dysraphism. ( 25720385 )
2015
28
Regrowth of Cervical Intradural Lipoma without Spinal Dysraphism. ( 25328656 )
2014
29
Predictors of urinary continence following tethered cord release in children with occult spinal dysraphism. ( 25067798 )
2014
30
Prenatal and postnatal evaluation for syringomyelia in patients with spinal dysraphism. ( 24995816 )
2014
31
Efficacy, tolerability, and safety of oxybutynin chloride in pediatric neurogenic bladder with spinal dysraphism: a retrospective, multicenter, observational study. ( 25512818 )
2014
32
Adult intradural lipoma with tethered spinal cord syndrome. ( 25073248 )
2014
33
Images in clinical medicine. Occult spinal dysraphism. ( 24476435 )
2014
34
Early recognition of occult spinal dysraphism through cutaneous stigmata. ( 25368137 )
2014
35
Currarino syndrome and spinal dysraphism. ( 24745342 )
2014
36
Capillary malformation in the lumbosacral region as a clinical sign of occult spinal dysraphism. ( 25070885 )
2014
37
Mature cystic retroperitoneal teratoma with well differentiated renal elements: relation to spinal dysraphism. ( 25755970 )
2014
38
Tethered spinal cord syndrome detected during ultrasound for caudal block in a child with single urological anomaly. ( 23814660 )
2013
39
Sprengel's deformity and spinal dysraphism: connecting the shoulder and the spine. ( 23443469 )
2013
40
Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report. ( 23979620 )
2013
41
Urodynamis Testing- Is it a Useful Tool in the Management of Children with Cutaneous Stigmata of Occult Spinal Dysraphism? ( 23485512 )
2013
42
Cutaneous stigmata of occult spinal dysraphism. ( 26023435 )
2013
43
Re: urodynamic testing-is it a useful tool in the management of children with cutaneous stigmata of occult spinal dysraphism?: L. T. LavallAce, M. P. Leonard, C. Dubois and L. A. Guerra J Urol 2013; 189: 678-683. ( 23485506 )
2013
44
Urodynamic testing--is it a useful tool in the management of children with cutaneous stigmata of occult spinal dysraphism? ( 22982430 )
2013
45
Occult spinal dysraphism in the presence of rare cutaneous stigma in a neonate: importance of ultrasound and magnetic resonance imaging. ( 23762072 )
2013
46
Analysis of risk factors and management of cerebrospinal fluid morbidity in the treatment of spinal dysraphism. ( 24278652 )
2013
47
Occult spinal dysraphism: lessons learned by retrospective analysis of 149 surgical cases about natural history, surgical indications, urodynamic testing, and intraoperative neurophysiological monitoring. ( 24013336 )
2013
48
Complete thoracic myelocystocele: a rare benign spinal dysraphism with clinical significance. ( 22082502 )
2012
49
The value of sacral skin lesions in predicting occult spinal dysraphism in children with voiding dysfunction and normal neurological examination. ( 21112255 )
2012
50
Occult spinal dysraphism in obstetrics: a case report of caesarean section with subarachnoid anaesthesia after remifentanil intravenous analgesia for labour. ( 22844625 )
2012
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Variations for Tethered Spinal Cord Syndrome

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ClinVar genetic disease variations for Tethered Spinal Cord Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CREBBP NM_004380.2(CREBBP): c.6185_6195delTCTCACCCAGC (p.Ile2062Serfs) deletion Likely pathogenic GRCh37 Chromosome 16, 3778853: 3778863
2 CREBBP NM_004380.2(CREBBP): c.6185_6195delTCTCACCCAGC (p.Ile2062Serfs) deletion Likely pathogenic GRCh38 Chromosome 16, 3728852: 3728862
Sources

Expression for Tethered Spinal Cord Syndrome

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

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GO Terms for Tethered Spinal Cord Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 8.62 HOXA1 MNX1

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.8 HOXA1 MNX1 NKX2-8
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Sources for Tethered Spinal Cord Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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