MCID: SYR001
MIFTS: 44

Syringomyelia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Syringomyelia

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Aliases & Descriptions for Syringomyelia:

Name: Syringomyelia 11 46 47 13 25 36 37 66

Classifications:



External Ids:

Disease Ontology11 DOID:327
MeSH37 D013595
NCIt43 C85179

Summaries for Syringomyelia

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NINDS:47 Syringomyelia (sear-IN-go-my-EEL-ya) is a disorder in which a fluid-filled cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, destroying the center of the spinal cord. Since the spinal cord connects the brain to nerves in the extremities, this damage results in pain, weakness, and stiffness in the back, shoulders, arms, or legs. Symptoms vary among individuals. Other symptoms may include headaches and a loss of the ability to feel extremes of hot or cold, especially in the hands.Signs of the disorder tend to develop slowly, although sudden onset may occur with coughing or straining. If not treated surgically, syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. In most cases, the disorder is related to a congenital abnormality of the brain called a Chiari I malformation. This malformation causes the lower part of the cerebellum to protrude from its normal location in the back of the head, through the hole connecting the skull and spine, and into the cervical or neck portion of the spinal canal. Syringomyelia may also occur as a complication of trauma, meningitis, hemorrhage, a tumor, or other condition. Symptoms may appear months or even years after the initial injury, starting with pain, weakness, and sensory impairment originating at the site of trauma. Some cases of syringomyelia are familial, although this is rare.

MalaCards based summary: Syringomyelia is related to idiopathic syringomyelia and secondary syringomyelia, and has symptoms including back pain, headache and pain. An important gene associated with Syringomyelia is ACY1 (Aminoacylase 1), and among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include spinal cord, brain and cerebellum, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

NIH Rare Diseases:46 Syringomyelia is a disorder in which a cyst, called a syrinx, forms within the spinal cord. this cyst expands and elongates over time, destroying the center of the spinal cord which can result in pain, weakness, stiffness in the back, shoulders, arms, or legs, headaches, and insensitivity to temperature (especially in the hands). symptoms vary from person to person. syringomyelia is often related to a congenital abnormality of the brain called a chiari i malformation, but may also occur as a complication of trauma, inflammation of the tissue that surrounds the brain and spinal cord (meningitis), hemorrhage, a tumor, or inflammation of one of the membranes that surrounds the spinal cord (arachnoiditis). symptoms may appear months or even years after the initial injury. some cases of syringomyelia are familial, although this is rare. treatment often involves surgery and avoiding activities that involve straining. drainage of the cysts using a catheter, drainage tubes, and valves may be required in some patients. if not treated, the disorder can lead to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. last updated: 8/22/2016

MedlinePlus:36 Syringomyelia is a rare disorder that causes a cyst to form in your spinal cord. this cyst, called a syrinx, gets bigger and longer over time, destroying part of the spinal cord. damage to the spinal cord from the syrinx can cause symptoms such as pain and weakness in the back, shoulders, arms or legs headaches inability to feel hot or cold symptoms vary according to the size and location of the syrinx. they often begin in early adulthood. syringomyelia usually results from a skull abnormality called a chiari i malformation. a tumor, meningitis or physical trauma can also cause it. surgery is the main treatment. some people also need to have the syrinx drained. medicines can help ease pain. in some cases, there are no symptoms, so you may not need treatment.

Wikipedia:69 Syringomyelia (/sᵻˌrɪŋɡəmaɪˈiːliə, -ɡoʊ-/) is a generic term referring to a disorder in... more...

Related Diseases for Syringomyelia

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Diseases in the Syringomyelia family:

Familial Syringomyelia Secondary Syringomyelia
Primary Syringomyelia

Diseases related to Syringomyelia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1idiopathic syringomyelia12.1
2secondary syringomyelia12.1
3primary syringomyelia12.1
4familial syringomyelia12.0
5chiari malformation type i11.0
6chiari malformation10.9
7arachnoiditis10.5
8myelomeningocele10.5
9cervicitis10.4
10scoliosis10.4
11hydrocephalus10.3
12frontotemporal lobar degeneration with ubiquitin-positive inclusions10.3COL1A1, VDR
13syringobulbia10.3
14thbd-related atypical hemolytic-uremic syndrome10.2COL1A1, VDR
15arachnoid cysts10.2
16spinal arachnoiditis10.2
17arthropathy10.2
18scapuloperoneal myopathy10.1COL1A1, VDR
19jackson-weiss syndrome10.0COL1A1, FGFR2
20meningitis10.0
21hydromyelia10.0
22neurocutaneous melanosis, somatic10.0
23chiari malformation type ii10.0
24spondylosis10.0
25hemangioblastoma10.0
26ependymoma10.0
27ischemic bone disease10.0COL1A1, FGFR2
28tangier disease9.9
29idiopathic scoliosis9.9
30adolescent idiopathic scoliosis9.9
31tuberculous meningitis9.9
32aminoacylase 1 deficiency9.9
33basilar impression, primary9.9
34medulloblastoma9.9
35diastematomyelia9.9
36spinal cord injury9.9
37peritonitis9.9
38tethered cord syndrome9.9
39physical disorder9.8COL1A1, VDR
40hajdu-cheney syndrome9.8
41klippel-feil syndrome9.8
42normal pressure hydrocephalus9.8
43ulnar neuropathy9.8
44cerebellopontine angle meningioma9.8
45neuropathy9.8
46glioma9.8
47foot drop9.8
48headache9.8
49dandy-walker syndrome9.7
50neurofibromatosis, type 19.7

Graphical network of the top 20 diseases related to Syringomyelia:



Diseases related to syringomyelia

Symptoms for Syringomyelia

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UMLS symptoms related to Syringomyelia:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, edema of spinal cord, radicular pain, pain in spine, vertigo/dizziness, sleeplessness

Drugs & Therapeutics for Syringomyelia

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Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Clinical Trial of a Serious Game for Individuals With SCI/DRecruitingNCT02341950Phase 3
2Efficacy Assessment of the Cell Therapy Medicine NC1 in Patients With Post-traumatic SyringomyeliaActive, not recruitingNCT02807142Phase 2
3Safety of Autologous Human Schwann Cells (ahSC) in Subjects With Subacute SCIActive, not recruitingNCT01739023Phase 1
4Establishing the Physiology of SyringomyeliaCompletedNCT00001327
5Study and Surgical Treatment of SyringomyeliaCompletedNCT00011245
6Centralized Reading Assessment of Chronic CerebroSpinal Venous Insufficiency (CCSVI) in Patients With Multiple Sclerosis and Other Neurological DiseasesCompletedNCT02308579
7Characterization of At-risk Population for Pre-sacral Tumor in CURRARINO SyndromeCompletedNCT00780117
8A Prospective Natural History Study of Patients With SyringomyeliaRecruitingNCT01150708
9Genetic Analysis of the Chiari I MalformationRecruitingNCT00004738
10The Genetics of Chiari Type I MalformationActive, not recruitingNCT01060800
11Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With SyringomyeliaNot yet recruitingNCT02669836

Search NIH Clinical Center for Syringomyelia


Cochrane evidence based reviews: syringomyelia

Genetic Tests for Syringomyelia

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Genetic tests related to Syringomyelia:

id Genetic test Affiliating Genes
1 Syringomyelia25

Anatomical Context for Syringomyelia

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MalaCards organs/tissues related to Syringomyelia:

34
Spinal cord, Brain, Cerebellum, Testes, Bone, Skin, Tonsil

Animal Models for Syringomyelia or affiliated genes

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MGI Mouse Phenotypes related to Syringomyelia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9AQP4, COL1A1, FGFR2, VDR
2MP:00053818.3AQP4, COL1A1, FGFR2, NRAS, VDR
3MP:00053917.9AQP4, COL1A1, FGFR2, HSF4, NRAS

Publications for Syringomyelia

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Articles related to Syringomyelia:

(show top 50)    (show all 753)
idTitleAuthorsYear
1
Inwardly rectifying potassium channel 4.1 expression in post-traumatic syringomyelia. (26768400)
2016
2
Idiopathic Versus Syrinx-Related Scoliosis: How Different Are They? Commentary on an article by Shifu Sha, PhD, et al.: "Does Surgical Correction of Right Thoracic Scoliosis in Syringomyelia Produce Outcomes Similar to Those in Adolescent Idiopathic Scoliosis?". (26888686)
2016
3
Craniocervical decompression with duraplasty and cerebellar tonsillectomy as treatment for Chiari malformation-I complicated with syringomyelia. (25730033)
2015
4
Syringomyelia: a practical, clinical concept for classification. (25236931)
2014
5
Syringomyelia associated with spinal arachnoiditis treated by partial arachnoid dissection and syrinx-far distal subarachnoid shunt. (25232285)
2014
6
Preserved sensory-motor function despite large-scale morphological alterations in a series of patients with holocord syringomyelia. (25219978)
2014
7
A rare course of scoliosis associated with Chiari malformation and syringomyelia. (25338487)
2014
8
Syringomyelia associated with Paget disease of the skull. (23438664)
2013
9
Arachnoiditis ossificans in a patient with ankylosing spondylitis, syringomyelia, and a history of spinal surgery. (23948833)
2013
10
One Stage Correction Surgery of Scoliosis Associated With Syringomyelia: Is it Safe to Leave Untreated a Syrinx Without Neurological Symptom? (23249885)
2013
11
Spinal syringomyelia following subarachnoid hemorrhage. (22285478)
2012
12
Anesthetic management during Cesarean section in a woman with residual Arnold-Chiari malformation Type I, cervical kyphosis, and syringomyelia. (22439117)
2012
13
Spontaneous regression of syringomyelia in a young patient with Chiari type I malformation. (24029095)
2012
14
Syringo-subarachnoid-peritoneal shunt using T-tube for treatment of post-traumatic syringomyelia. (22993681)
2012
15
The first descriptions of syringomyelia. (22843644)
2012
16
Syringomyelia associated with arachnoid septum at the craniovertebral junction, contradicting the currently prevailing theory of syringomyelia formation. (22052474)
2012
17
Cerebellar tonsillectomy with suboccipital decompression and duraplasty by small incision for Chiari I malformation (with syringomyelia): long term follow-up of 76 surgically treated cases. (22664992)
2012
18
Tuberculous syringomyelia in an HIV-infected patient: a case report. (22422692)
2012
19
Aquaporin-4 expression and blood-spinal cord barrier permeability in canalicular syringomyelia. (23082850)
2012
20
Changes over time in craniocerebral morphology and syringomyelia in cavalier King Charles spaniels with Chiari-like malformation. (23136935)
2012
21
Dual gliomas with syringomyelia in a child: case report and literature review. (23406771)
2012
22
Difficult intubation in a parturient with syringomyelia and Arnold-Chiari malformation: Use of Airtraq laryngoscope. (22144932)
2011
23
Surgical outcomes of foramen magnum decompression for syringomyelia associated with Chiari I malformation: relation between the location of the syrinx and body pain. (20559796)
2010
24
Relationship of brain parenchyma within the caudal cranial fossa and ventricle size to syringomyelia in cavalier King Charles spaniels. (20536691)
2010
25
Spinal subarachnoid space pressure measurements in an in vitro spinal stenosis model: implications on syringomyelia theories. (21034148)
2010
26
Syringopleural shunt as a rescue procedure in patients with syringomyelia refractory to restoration of cerebrospinal fluid flow. (19687691)
2009
27
Spontaneous syringomyelia resolution at an adult Chiari type 1 malformation. (19263363)
2009
28
Tonsillar herniation and cervical syringomyelia due to postoperative meningitis in case of pineal region epidermoid. (19258731)
2009
29
Thoracic disc herniation in a patient with tethered cord and lumbar syringomyelia and diastematomyelia: magnetic resonance imaging and neurophysiological findings. (19525827)
2009
30
Factors contributing improvement of syringomyelia and surgical outcome in type I Chiari malformation. (19057907)
2009
31
Interstitial spinal-cord oedema in syringomyelia associated with Chiari type 1 malformations. (18403441)
2008
32
Radiological presentations in relation to curve severity in scoliosis associated with syringomyelia. (18157058)
2008
33
Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I. (18826365)
2008
34
Spontaneous regression of lipomyelomeningocele associated with terminal syringomyelia in a child. Case report. (17918535)
2007
35
Syringomyelia with syringobulbia. (18405132)
2007
36
Tuberculous meningitis presenting as mesencephalic infarction and syringomyelia. (17588607)
2007
37
Clinical importance of somatosensory evoked potentials in early diagnosis of syringomyelia. (17972541)
2007
38
Syringomyelia: an early complication of tuberculous meningitis. (17034715)
2006
39
Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature. (15821947)
2005
40
Resolution of tonsillar herniation and cervical syringomyelia following resection of a large petrous meningioma: case report and review of literature. (16148987)
2005
41
Vertebral malformation, syringomyelia, and ventricular septal defect in a dromedary camel (Camelius dromedarius). (15305748)
2004
42
Hiccups attributable to syringobulbia and/or syringomyelia associated with a Chiari I malformation: case report. (14683562)
2004
43
Musculoskeletal case 29. Neuropathic shoulder secondary to syringomyelia. (12930110)
2003
44
Growth hormone insensitivity syndrome associated with syringomyelia and type I Chiari malformation. (14686753)
2003
45
Syringomyelia associated with hydrocephalus and Blake's pouch cyst: case report. (12865864)
2003
46
A patient with optic pathway glioma, scoliosis, Chiari type I malformation and syringomyelia: is it Neurofibromatosis type 1? (12577114)
2002
47
Classification of syringomyelia. (16676921)
2000
48
Secondary syringomyelia. (8469357)
1993
49
Syringomyelia and syringobulbia secondary to arachnoiditis and fourth ventricle blockage due to cysticercosis. A case report. (6939277)
1981
50
Lindauvon Hippel disease with hemangioblastoma of the spinal cord and syringomyelia. (20243511)
1947

Variations for Syringomyelia

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Expression for genes affiliated with Syringomyelia

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Search GEO for disease gene expression data for Syringomyelia.

Pathways for genes affiliated with Syringomyelia

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GO Terms for genes affiliated with Syringomyelia

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Cellular components related to Syringomyelia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Golgi apparatusGO:00057948.8COL1A1, FGFR2, MAN1B1, NRAS

Biological processes related to Syringomyelia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1skeletal system morphogenesisGO:00487059.7COL1A1, FGFR2

Sources for Syringomyelia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet