Tethered Spinal Cord Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: TTH004 MIFTS: 50	Tethered Spinal Cord Syndrome Categories: Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Drugs Expand all tables

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD11: ³³

Developmental anomalies

Structural developmental anomalies primarily affecting one body system

Structural developmental anomalies of the skeleton

Structural developmental anomalies of spine or bony thorax

Occult spinal dysraphism

External Ids:

Disease Ontology ¹¹ DOID:1089

SNOMED-CT ⁶⁸ 282784007

EFO ¹⁶ EFO_1001210

ICD11 ³³ 449489594

UMLS ⁷¹ C0080218 C0560648

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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...

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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:

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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

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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

Drospirenone

Approved

Phase 3

67392-87-4

68873

Calcium, Dietary

Phase 3

Drospirenone and ethinyl estradiol combination

Phase 3

Diuretics, Potassium Sparing

Phase 3

diuretics

Phase 3

Mineralocorticoids

Phase 3

Mineralocorticoid Receptor Antagonists

Phase 3

Calcium

Nutraceutical

Phase 3

7440-70-2

271

Acetazolamide

Approved, Vet_approved

Phase 2

59-66-5, 1424-27-7

1986

Mycophenolic acid

Approved, Investigational

Phase 2

24280-93-1

446541

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 2

23593-75-1

2812

Carbonic Anhydrase Inhibitors

Phase 2

Anticonvulsants

Phase 2

Antibiotics, Antitubercular

Phase 2

Antirheumatic Agents

Phase 2

Calcineurin Inhibitors

Phase 2

Cyclosporins

Phase 2

Antifungal Agents

Phase 2

Antilymphocyte Serum

Phase 2

Thymoglobulin

Phase 2

Antitubercular Agents

Phase 2

Immunosuppressive Agents

Phase 2

Dermatologic Agents

Phase 2

Immunologic Factors

Phase 2

Inositol

Approved, Investigational, Withdrawn

Phase 1

87-89-8

Dexmedetomidine

Approved, Experimental, Vet_approved

Phase 1

86347-14-0, 113775-47-6

68602 5311068

Ketamine

Approved, Vet_approved

Phase 1

6740-88-1, 1867-66-9

3821

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 1

437-38-7

3345

Propofol

Approved, Investigational, Vet_approved

Phase 1

2078-54-8

4943

Anesthetics

Phase 1

Anesthetics, General

Phase 1

Neurotransmitter Agents

Phase 1

Excitatory Amino Acid Antagonists

Phase 1

Anesthetics, Intravenous

Phase 1

Anesthetics, Dissociative

Phase 1

Hypnotics and Sedatives

Phase 1

Analgesics

Phase 1

Cefoxitin

Approved

35607-66-0

441199

Cefotaxime

Approved

63527-52-6

5742673 456256

Rifampicin

Approved

13292-46-1

135512673 5381226 135900090

Pamidronic acid

Approved

40391-99-9

4674

Metformin

Approved

1115-70-4, 657-24-9

4091

Mometasone furoate

Approved, Investigational, Vet_approved

83919-23-7

4240 441336

Caffeine

Approved

58-08-2

2519

Benzocaine

Approved, Investigational

1994-09-7, 94-09-7

2337

Tannic acid

Approved

1401-55-4

16129878 16129778

Pyrantel

Approved, Vet_approved

15686-83-6

Cholecalciferol

Approved, Nutraceutical, Vet_approved

67-97-0, 1406-16-2

5280795 10883523

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

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Genetic Tests for Tethered Spinal Cord Syndrome

Genetic tests related to Tethered Spinal Cord Syndrome:

#	Genetic test	Affiliating Genes
1	Spinal Dysraphism ²⁸

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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

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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	Knerlich-Lukoschus F	35900420	2023
2	Late diagnosis of dorsolumbar lipomyelomeningocele with tethered cord in a middle aged adult: A case report from Nepal. ⁶²	Aryal S...Deo S	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	Sepulveda F...Sepulveda W	34074204	2022
4	[Analysis of anorectal manometry data in central and peripheral neurological deseases: Review of the literature]. ⁶²	Essid D...Amarenco G	36030152	2022
5	Aetiology and diagnostics of paediatric hydrocephalus across Africa: a systematic review and meta-analysis. ⁶²	Aukrust CG...Eide PK	36400085	2022
6	Central nervous system involvement in individuals with RASopathies. ⁶²	Weaver KN...Gripp KW	36454176	2022
7	Spinal manifestations of Ehlers-Danlos syndrome: a scoping review. ⁶²	Marathe N...Fehlings MG	35986728	2022
8	Utilizing pre- and postoperative radiological parameters to predict surgical outcomes following untethering for tethered cord syndrome in a pediatric population. ⁶²	Mualem W...Bydon M	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	Han X...Li G	36347745	2022
10	[Surgery for Spinal Lipoma of the Conus Medullaris]. ⁶²	Hayashi T...Kimiwada T	36426522	2022
11	[Filum Lipoma]. ⁶²	Yoshifuji K	36426521	2022
12	Differences in rectoanal inhibitory reflex duration between patients with refractory functional constipationand myelomeningocele. ⁶²	Fernandez J...Bigliardi R	36413143	2022
13	Primary vs patch-based skin closure for in-utero spina bifida repair. ⁶²	Fishel Bartal M...Papanna R	35751885	2022
14	The incidence of congenital lumbosacral malformations in young male Turkish military school candidates population. ⁶²	Fidan F...Veizi E	34391615	2022
15	Electrodiagnosis has a potential to identify neural damage in asymptomatic infants with closed spinal dysraphism. ⁶²	Park M...Shin HI	36445470	2022
16	Long-term results of artificial urinary sphincter implantation for urinary incontinence due to intrinsic sphincter deficiency in children. ⁶²	Paret F...Perrouin-Verbe MA	36434815	2022
17	Tethered cord release in patients after open fetal myelomeningocele closure: intraoperative neuromonitoring data and patient outcomes. ⁶²	Flanders TM...Heuer GG	36380051	2022
18	Assessment of MRI and Ultrasound Screening for Tethered Cord Syndrome in Patients Diagnosed With Esophageal Atresia/Tracheoesophageal Fistula. ⁶²	Cowley N...Gourlay D	35779449	2022
19	Novel use of nonpenetrating titanium clips for pediatric primary spinal dural closure: A technical note. ⁶²	Shahrestani S...Levy ML	36084429	2022
20	Effect of untethering on occult tethered cord syndrome: a systematic review. ⁶²	Rezaee H...Keykhosravi E	34709093	2022
21	Thoracolumbar surgery for degenerative spine diseases complicated with tethered cord syndrome: A case report. ⁶²	Wang YT...Sun HL	36246831	2022
22	Long-term outcomes of augmentation cystoplasty: A retrospective view of 54 children. ⁶²	Kuzdan MO...Demirkan H	35780052	2022
23	Split cord malformation concomitant with spinal teratoma without open spinal dysraphism. ⁶²	Hazneci J...Celikoglu E	35687168	2022
24	Anorectal malformation, urethral duplication, occult spinal dysraphism (ARM-UD-OSD): a challenging uncommon association. ⁶²	Lena F...Mosiello G	35882671	2022
25	Multidisciplinary Management of Children with Occult Spinal Dysraphism: A Comprehensive Journey from Birth to Adulthood. ⁶²	Vetrano IG...Valentini LG	36291482	2022
26	Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) - A Fetal Autopsy Case. ⁶²	Chan ES...Stefanovici C	35276380	2022
27	Full-Endoscopic Discectomy in an Adult Postoperative Spinal Dysraphism Patient: A Case Report. ⁶²	Kaneko T...Takano Y	36348876	2022
28	Presacral mature cystic teratoma associated with Currarino syndrome in an adolescent with androgen insensitivity: illustrative case. ⁶²	Koskay G...Surdell D	36317236	2022
29	MRI characteristics of the fetal tethered spinal cord: a comparative study. ⁶²	Sun Y...Zeng J	33272085	2022
30	Detection and Management of Tethered Cord in Anorectal Malformation: A Survey of Pediatric Neurosurgeons in the United States. ⁶²	Smith CA...Hauptman JS	36257293	2022
31	Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord. ⁶²	Wongkittichote P...Shinawi MS	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	Klinge PM...Gokaslan ZL	35852974	2022
33	First report of tethered cord syndrome in a patient with Verheij syndrome. ⁶²	Kocaaga A...Yavuz OO	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	van der Steeg HJJ...On-behalf-of-the-ARM-Net-Consortium	35317943	2022
35	Neuromuscular scoliosis in the presence of spina bifida occulta and a transitional lumbosacral vertebra: A case report. ⁶²	Chu EC	35818451	2022
36	Huge unrepaired myelocystocele, progressive sac enlargement in later stages of life: a case report. ⁶²	Safari H...Hamidi S	36074342	2022
37	Reduction of transverse rectal diameter and its effect on bladder dynamics in children with spinal dysraphism. ⁶²	Radojicic Z...Milic N	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	Hentzen C...Joussain C	35659166	2022
39	Fetal MRI Neuroradiology: Indications. ⁶²	Powers AM...Mirsky D	36113923	2022
40	Imaging of Congenital Spine Malformations. ⁶²	White C...Neuberger I	36113926	2022
41	Progressive-Tension Sutures in Reconstruction of Posterior Trunk Defects in Pediatric Patients: A Prospective Series. ⁶²	Crowe CS...Susarla SM	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	Hagihara S...Abe Y	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	Petronic Markovic I...Kiekens C	35575455	2022
44	Conservative Treatment and Unfavorable Factors to Bone Healing of "Pre-lysis"-Stage Lumbar Spondylolysis in Adolescents. ⁶²	Gamada H...Yamazaki M	35989507	2022
45	Comparison of the electrophysiological characteristics of tight filum terminale and tethered cord syndrome. ⁶²	Kamei N...Adachi N	35790608	2022
46	De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia. ⁶²	DeYoung C...Brooks BP	35318877	2022
47	Paraplegia due to spinal epidural lipoma without spinal dysraphism in an adolescent patient: a case report. ⁶²	Segi N...Imagama S	36237883	2022
48	Intra-Operative Neurophysiological Monitoring in Patients with Intraspinal Abnormalities Undergoing Posterior Spinal Fusion. ⁶²	Qiu J...Qiu Y	35711107	2022
49	Clinical Reasoning: A 68-Year-Old Man With Palmar Rash, Leg Pain, and Inability to Walk. ⁶²	Yoon JY...Prasad S	35705498	2022
50	Intramedullary Spinal Cord Abscess with Concomitant Spinal Degenerative Diseases: A Case Report and Systematic Literature Review. ⁶²	Jabbar R...Radek M	36079075	2022

Sources

Genes for Tethered Spinal Cord Syndrome

Genes related to Tethered Spinal Cord Syndrome (1 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	400	Pathogenic ⁵
2	AMOTL1	Angiomotin Like 1	Protein Coding	25	Likely pathogenic ⁵
3	CREBBP	CREB Binding Protein	Protein Coding	25	Likely pathogenic ⁵
4	PRICKLE4	Prickle Planar Cell Polarity Protein 4	Protein Coding	8.81	DISEASES inferred ¹⁴ ¹⁴
5	VANGL1	VANGL Planar Cell Polarity Protein 1	Protein Coding	6.8	DISEASES inferred ¹⁴
6	MNX1	Motor Neuron And Pancreas Homeobox 1	Protein Coding	6.57	DISEASES inferred ¹⁴
7	COX8C	Cytochrome C Oxidase Subunit 8C	Protein Coding	5.66	DISEASES inferred ¹⁴
8	AFP	Alpha Fetoprotein	Protein Coding	5.41	DISEASES inferred ¹⁴
9	SCRIB	Scribble Planar Cell Polarity Protein	Protein Coding	5.3	DISEASES inferred ¹⁴
10	CELSR1	Cadherin EGF LAG Seven-Pass G-Type Receptor 1	Protein Coding	5.15	DISEASES inferred ¹⁴
11	VANGL2	VANGL Planar Cell Polarity Protein 2	Protein Coding	5.14	DISEASES inferred ¹⁴
12	DVL1	Dishevelled Segment Polarity Protein 1	Protein Coding	5.11	DISEASES inferred ¹⁴
13	FZD6	Frizzled Class Receptor 6	Protein Coding	5.11	DISEASES inferred ¹⁴
14	FZD3	Frizzled Class Receptor 3	Protein Coding	5.1	DISEASES inferred ¹⁴
15	NKX2-8	NK2 Homeobox 8	Protein Coding	5.06	DISEASES inferred ¹⁴
16	MTHFD1	Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1	Protein Coding	5.03	DISEASES inferred ¹⁴
17	SNORA49	Small Nucleolar RNA, H/ACA Box 49	RNA Gene	5.02	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Tethered Spinal Cord Syndrome

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

Sources

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	Signal Transduction ⁶⁶	13.43	AMOTL1 BRAF CREBBP DVL1 FZD3 FZD6
2	Signaling by WNT ⁶⁶ Show member pathways TCF dependent signaling in response to WNT ⁶⁶	12.18	VANGL2 SCRIB FZD6 FZD3 DVL1 CREBBP
3	Breast cancer pathway ⁷⁴ Show member pathways Embryonic stem cell pluripotency pathways ⁷⁴	12.17	FZD6 FZD3 DVL1 BRAF
4	WNT Signaling ⁶⁴	12.16	FZD6 FZD3 DVL1 CREBBP
5	Transcription Androgen Receptor nuclear signaling ²² Show member pathways Translation Non-genomic (rapid) action of Androgen Receptor ²²	11.88	FZD6 FZD3 DVL1
6	Wnt / Hedgehog / Notch ³	11.88	VANGL1 SCRIB FZD6 AFP
7	Presenilin-Mediated Signaling ⁶⁴	11.85	FZD6 FZD3 DVL1
8	ncRNAs involved in Wnt signaling in hepatocellular carcinoma ⁷⁴ Show member pathways lncRNA in canonical Wnt signaling and colorectal cancer ⁷⁴ Wnt signaling ⁷⁴ Wnt signaling pathway and pluripotency ⁷⁴ Wnt Signaling Pathways ⁶⁵	11.81	VANGL2 VANGL1 FZD6 FZD3 DVL1 CREBBP
9	RND3 GTPase cycle ⁶⁶ Show member pathways RND1 GTPase cycle ⁶⁶ RND2 GTPase cycle ⁶⁶	11.79	VANGL2 VANGL1 SCRIB
10	Colorectal Cancer Metastasis ⁶⁴	11.78	FZD6 FZD3 DVL1 BRAF
11	G12-G13 in Cellular Signaling ⁶⁴	11.76	FZD6 FZD3 DVL1
12	Reelin Pathway (Cajal-Retzius cells) ⁶⁴	11.73	FZD6 FZD3 DVL1
13	Wnt Pathway ⁷⁰ Show member pathways LGK974 inhibits PORCN ⁶⁶ WNT ligand biogenesis and trafficking ⁶⁶ Wnt signaling in kidney disease ⁷⁴ Wnt signaling network ⁶¹	11.72	FZD6 FZD3 DVL1
14	mTOR Signaling ⁶⁵	11.6	FZD6 FZD3 DVL1 BRAF
15	Physico-chemical features and toxicity-associated pathways ⁷⁴	11.39	FZD6 FZD3 DVL1

Sources

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