MCID: TTH004
MIFTS: 27

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 50 14
Spinal Dysraphism 12 28 41
Tethered Spinal Cord Disease 72

Classifications:



External Ids:

Disease Ontology 12 DOID:1089
ICD10 32 Q05 Q05.9
ICD9CM 34 741
MeSH 41 D016135
NCIt 46 C101214
UMLS 69 C0080178

Summaries for Tethered Spinal Cord Syndrome

NINDS : 50 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 Acetazolamide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, and related phenotype is Negative genetic interaction between PTEN-/- and PTEN+/+.

Wikipedia : 72 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:

# Related Disease Score Top Affiliating Genes
1 tethered cord syndrome 11.3
2 primary tethered cord syndrome 11.3
3 myelomeningocele 10.0
4 lipomatosis, multiple 9.9
5 diastematomyelia 9.9
6 encephalocraniocutaneous lipomatosis 9.9
7 episodic pain syndrome, familial, 1 9.9
8 neurogenic bladder 9.9
9 lipomatosis 9.9
10 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

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 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 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
2 Anticonvulsants Phase 2
3 Carbonic Anhydrase Inhibitors Phase 2
4 diuretics Phase 2
5 Natriuretic Agents Phase 2
6
Menthol Approved 2216-51-5 16666
7 Dermatologic Agents

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
4 Treatment of Persistent Urinary Incontinence in Children Completed NCT00124046
5 Efficacy and Safety of Nerve Root Axial Decompression Surgery in The Treatment of Tethered Cord Syndrome Recruiting NCT03262844
6 Comparing Surgical Decompression Versus Conservative Treatment in Incomplete Spinal Cord Injury Terminated NCT01367405
7 Intermittent Positive-Pressure Breathing Effects in Patients With High Spinal Cord Injury Terminated NCT00476866
8 Magnetic Resonance Imaging of the Spine Withdrawn NCT01382290

Search NIH Clinical Center for Tethered Spinal Cord Syndrome

Cochrane evidence based reviews: spinal dysraphism

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

MalaCards organs/tissues related to Tethered Spinal Cord Syndrome:

38
Spinal Cord

Publications for Tethered Spinal Cord Syndrome

Articles related to Tethered Spinal Cord Syndrome:

(show all 25)
# Title Authors Year
1
Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis. ( 27651783 )
2016
2
Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature. ( 28503585 )
2015
3
Adult intradural lipoma with tethered spinal cord syndrome. ( 25073248 )
2014
4
Tethered spinal cord syndrome detected during ultrasound for caudal block in a child with single urological anomaly. ( 23814660 )
2013
5
MRI findings, surgical treatment and follow-up of a myelomeningocele with tethered spinal cord syndrome in a cat. ( 21439878 )
2011
6
Electrophysiologically guided untethering of secondary tethered spinal cord syndrome. ( 20594001 )
2010
7
Tethered spinal cord syndrome with symptomatic onset in adulthood. ( 19951591 )
2009
8
Intermittent back and leg pain with numbness. Tethered spinal cord syndrome. ( 18841738 )
2008
9
Tethered spinal cord syndrome--the importance of time for outcomes. ( 17638158 )
2007
10
Tethered spinal cord syndrome. ( 17615225 )
2007
11
Surgical treatment of tethered spinal cord syndrome in a dog with myelomeningocele. ( 11442238 )
2001
12
Congenital tethered spinal cord syndrome in adults. ( 16749759 )
2001
13
Successful pregnancies in a case of retrograde ejaculation associated with tethered spinal cord syndrome. ( 10955250 )
2000
14
Congenital tethered spinal cord syndrome in adults. ( 9609288 )
1998
15
Unilateral hyperhidrosis, callosities, and nail dystrophy in a boy with tethered spinal cord syndrome. ( 9875980 )
1998
16
Urodynamic findings in the tethered spinal cord syndrome: does surgical release improve bladder function? ( 8996368 )
1997
17
Pre- and postoperative urodynamic findings in children with tethered spinal cord syndrome. ( 2022217 )
1991
18
Intraoperative monitoring for tethered spinal cord syndrome. ( 1750002 )
1991
19
MR imaging in the tethered spinal cord syndrome. ( 2784267 )
1989
20
The tethered spinal cord syndrome: a correlation of radiological features and peroperative findings in 30 patients. ( 2717007 )
1989
21
Evaluation of children and young adults with tethered spinal cord syndrome. Utility of spinal and scalp recorded somatosensory evoked potentials. ( 3738717 )
1986
22
Urinary tract dysfunctions in tethered spinal cord syndrome: improvement after surgical untethering. ( 3889376 )
1985
23
Adult onset of tethered spinal cord syndrome due to fibrous diastematomyelia: case report. ( 3889701 )
1985
24
The tethered spinal cord syndrome. ( 6395542 )
1984
25
Neurogenic bladder and the tethered spinal cord syndrome. ( 458974 )
1979

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

Sources for Tethered Spinal Cord Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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