MCID: TTH004
MIFTS: 37

Tethered Spinal Cord Syndrome

Categories: Neuronal diseases

Aliases & Classifications for Tethered Spinal Cord Syndrome

MalaCards integrated aliases for Tethered Spinal Cord Syndrome:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:1089
ICD10 33 Q05 Q05.9
ICD9CM 35 741
MeSH 44 D016135
NCIt 50 C101214
SNOMED-CT 68 67531005
UMLS 73 C0080178

Summaries for Tethered Spinal Cord Syndrome

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 anus, imperforate and neural tube defects. An important gene associated with Tethered Spinal Cord Syndrome is KMT2D (Lysine Methyltransferase 2D). The drugs Acetazolamide and diuretics have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and kidney, and related phenotypes are Decreased BBC3 mRNA expression and Decreased CDKN1A mRNA expression

Wikipedia : 76 Tethered cord syndrome (TCS) or occult spinal dysraphism sequence refers to a group of neurological... 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 77)
# Related Disease Score Top Affiliating Genes
1 anus, imperforate 29.6 KIDINS220 KMT2D MNX1
2 neural tube defects 11.8
3 split spinal cord malformation 11.5
4 tethered cord syndrome 11.4
5 primary tethered cord syndrome 11.4
6 exstrophy of bladder 11.2
7 myelocystocele 10.3
8 epidermoid cysts 10.2
9 hydrocephalus 10.2
10 scoliosis 10.2
11 myelomeningocele 10.1
12 anorectal anomalies 10.1
13 wilms tumor 6 10.1
14 latex allergy 10.1
15 dermoid cyst 10.1
16 syringomyelia 10.1
17 teratoma 10.1
18 currarino syndrome 10.0
19 hemangioma 10.0
20 spina bifida occulta 10.0
21 hypertrichosis 10.0
22 situs inversus 10.0
23 meningitis 10.0
24 chiari malformation 10.0
25 dextrocardia with situs inversus 10.0
26 myoclonus 10.0
27 syringohydromyelia 10.0
28 hydromyelia 10.0
29 diastematomyelia 10.0
30 encephalocraniocutaneous lipomatosis 10.0
31 neurogenic bladder 10.0
32 lipomatosis 10.0
33 anus disease 9.9 KIDINS220 MNX1
34 achondroplasia 9.9
35 acroosteolysis 9.9
36 cleft palate, isolated 9.9
37 vesicoureteral reflux 1 9.9
38 anencephaly 9.9
39 chiari malformation type ii 9.9
40 oeis complex 9.9
41 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.9
42 body mass index quantitative trait locus 1 9.9
43 anxiety 9.9
44 lipomyelomeningocele 9.9
45 spondylocostal dysostosis 3, autosomal recessive 9.9
46 muscle hypertrophy 9.9
47 alkuraya-kucinskas syndrome 9.9
48 arteriovenous fistula 9.9
49 charcot-marie-tooth disease 9.9
50 adrenal cortical adenoma 9.9

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased BBC3 mRNA expression GR00389-S-3 9.16 KMT2D SRCAP
2 Decreased CDKN1A mRNA expression GR00389-S-1 8.96 KMT2D SRCAP
3 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 8.8 COX8C MNX1 SRCAP

Drugs & Therapeutics for Tethered Spinal Cord Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
2 diuretics Phase 2
3 Natriuretic Agents Phase 2
4 Carbonic Anhydrase Inhibitors Phase 2
5 Anticonvulsants Phase 2
6 Dermatologic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Acetazolamide & Position in CSF Leakage and Collection and Wound Dehiscence Unknown status NCT01867268 Phase 2 Acetazolamide
2 Genetics of Neural Tube Defects Unknown status NCT01253746
3 Hemangioma Associated With High Rates of Morbidity Completed NCT00394888 Not Applicable
4 Treatment of Persistent Urinary Incontinence in Children Completed NCT00124046 Not Applicable
5 Efficacy and Safety of Nerve Root Axial Decompression Surgery in The Treatment of Tethered Cord Syndrome Recruiting NCT03262844 Not Applicable
6 Spinal Cord Stimulation in Patients With Post-Laminectomy Syndrome in Testing Phase Recruiting NCT03702010 Not Applicable
7 Comparing Surgical Decompression Versus Conservative Treatment in Incomplete Spinal Cord Injury Terminated NCT01367405 Not Applicable
8 Intermittent Positive-Pressure Breathing Effects in Patients With High Spinal Cord Injury Terminated NCT00476866 Not Applicable
9 Magnetic Resonance Imaging of the Spine Withdrawn NCT01382290 Not Applicable

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 29

Anatomical Context for Tethered Spinal Cord Syndrome

MalaCards organs/tissues related to Tethered Spinal Cord Syndrome:

41
Spinal Cord, Skin, Kidney, Bone, Colon, Testes

Publications for Tethered Spinal Cord Syndrome

Articles related to Tethered Spinal Cord Syndrome:

(show top 50) (show all 313)
# Title Authors Year
1
Combined Spinal Arteriovenous Malformation and Spinal Dysraphism. ( 29223517 )
2018
2
Contiguous Diastematomyelia with lipomyelomeningocele in each hemicord-An exceptional case of spinal dysraphism. ( 30529523 )
2018
3
Ultrasound guided transversus abdominis plane block. Postoperative analgesia in children with spinal dysraphism. ( 29332115 )
2018
4
Streamlining risk stratification in infants and young children with spinal dysraphism: Vesicoureteral reflux and/or bladder trabeculations outperforms other urodynamic findings for predicting adverse outcomes. ( 30253979 )
2018
5
Dynamic magnetic resonance imaging parameters for objective assessment of the magnitude of tethered cord syndrome in patients with spinal dysraphism. ( 30456429 )
2018
6
Fatty filum terminale (FFT) as a secondary tethering element in children with closed spinal dysraphism. ( 29260294 )
2018
7
Spinal dysraphism in a 63-year-old multipara faun-tailed woman. ( 29316813 )
2018
8
Spinal Dysraphism Presenting as a Translucent Papule in a Man. ( 29541754 )
2018
9
Spinal dysraphism and dislocated hip: Beware of anomalous sciatic nerve through Ilium, a case report. ( 29561460 )
2018
10
Intradetrusor Injections of Botulinum Toxin A in Adults with Spinal Dysraphism. ( 29746860 )
2018
11
Adult intramedullary epidermoid cyst without spinal dysraphism: A case report. ( 30009086 )
2018
12
Dorcas Padget (1906-1973) and her contributions to spinal dysraphism and Chiari II malformations. ( 30066163 )
2018
13
Comparison of neurogenic lower urinary tract dysfunctions in open versus closed spinal dysraphism: A prospective cross-sectional study of 318 patients. ( 30070396 )
2018
14
Decreased rectal meconium signal on MRI in fetuses with open spinal dysraphism. ( 30094854 )
2018
15
Dorsal accessory ectopic breast with polythelia - A marker of occult spinal dysraphism. ( 30105137 )
2018
16
Dorsal midline cutaneous stigmata associated with occult spinal dysraphism in pediatric patients. ( 30304899 )
2018
17
Intra- and Extramedullary Thoracic Spinal Lipomas without Spinal Dysraphism: Clinical Presentation and Surgical Management. ( 30315981 )
2018
18
Impact of the associated anorectal malformation on the outcome of spinal dysraphism after untethering surgery. ( 30390136 )
2018
19
Anaesthetic management for caesarean section of a parturient with a known difficult airway and closed spinal dysraphism. ( 30415798 )
2018
20
Faun Tail Nevus: A Cutaneous Sign of Spinal Dysraphism. ( 27208911 )
2017
21
Unjoined primary and secondary neural tubes: junctional neural tube defect, a new form of spinal dysraphism caused by disturbance of junctional neurulation. ( 27796548 )
2017
22
Use of magnetic resonance imaging to detect occult spinal dysraphism in infants. ( 27911245 )
2017
23
Spinal dysraphism with tripedus: A child with three legs. ( 28084286 )
2017
24
Occult sacral meningocoele associated with spinal dysraphism: Report of an unusual case and a review of literature. ( 28290420 )
2017
25
Imaging spectrum of spinal dysraphism on magnetic resonance: A pictorial review. ( 28529681 )
2017
26
Predictors of permanent disability among adults with spinal dysraphism. ( 28548634 )
2017
27
Reoperation in Spinal Dysraphism: Does it Help in Reversing the Neurological Deficits? ( 28694616 )
2017
28
Expectant use of CIC in newborns with spinal dysraphism: Report of clinical outcomes. ( 29125524 )
2017
29
Reoperation in Spinal Dysraphism. ( 29204003 )
2017
30
Spinal dysraphism illustrated; Embroyology revisited. ( 29379236 )
2017
31
Should the Macular Lesions Around Spinal Dysraphism Be Excised? Analysis of Macular Lesions Accompanying Spinal Dysraphism. ( 29399749 )
2017
32
Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis. ( 27651783 )
2016
33
[Surgical treatment outcomes in children with tethered spinal cord syndrome. A prognosis on the basis of spinal 3T MRI tractography]. ( 27296539 )
2016
34
Spinal dysraphism masking the presentation of spinal dural arteriovenous fistula: A serendipitous development or a congenital predisposition to an early-onset variant of spinal dural arteriovenous fistula? ( 27841239 )
2016
35
Perceived barriers and difficulties of intermittent catheterization: In Korean patients with spinal dysraphism and their parents. ( 25546707 )
2016
36
Association of Obesity, BMI, and Hispanic Ethnicity on Ambulatory Status in Children with Spinal Dysraphism followed near the California-Mexico Border. ( 27818449 )
2016
37
Small Biparietal Diameter in Spinal Dysraphism: Do Not Forget the Quality Control of the Measure. ( 26227861 )
2016
38
Long faun tail: a rare cutaneous marker of spinal dysraphism. ( 26376040 )
2016
39
Neurological disease of Şehzade Cihangir in the Ottoman history: spinal dysraphism. ( 26590593 )
2016
40
A rare cause of spinal dysraphism: lipomeningomyelocele. ( 26723259 )
2016
41
Neonatal Lumbosacral Ulceration Masking Lumbosacral and Intraspinal Hemangiomas Associated with Occult Spinal Dysraphism. ( 27215780 )
2016
42
Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature. ( 28503585 )
2015
43
Diagnostic accuracy of Tc-99m DMSA scintigraphy and renal ultrasonography for detecting renal scarring and relative function in patients with spinal dysraphism. ( 24706504 )
2015
44
Small biparietal diameter and head circumference are part of the phenotype instead of independent prognostic markers in fetuses with spinal dysraphism. ( 25402003 )
2015
45
A lumbosacral hemangioma with spinal dysraphism. ( 25449217 )
2015
46
Morphometric analysis of lumbar pedicles in patients with spinal dysraphism. ( 25720385 )
2015
47
Faun tail: a rare cutaneous sign of spinal dysraphism. ( 25770308 )
2015
48
Intra-medullary tubercular abscess with spinal dysraphism: An unusual case. ( 25878753 )
2015
49
Urinary considerations for adult patients with spinal dysraphism. ( 25963964 )
2015
50
Dorsal ectopic breast in a case of spinal dysraphism: A rare entity. ( 26053812 )
2015

Variations for Tethered Spinal Cord Syndrome

Expression for Tethered Spinal Cord Syndrome

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

Pathways for Tethered Spinal Cord Syndrome

GO Terms for Tethered Spinal Cord Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.26 KMT2D MNX1 NKX2-8 SRCAP
2 histone binding GO:0042393 8.62 KMT2D SRCAP

Sources for Tethered Spinal Cord Syndrome

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
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