MCID: SYR001
MIFTS: 39

Syringomyelia malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Aliases & Classifications for Syringomyelia

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Aliases & Descriptions for Syringomyelia:

Name: Syringomyelia 10 45 46 12 35 65 36


Classifications:



External Ids:

Disease Ontology10 DOID:327
MeSH36 D013595
NCIt42 C85179

Summaries for Syringomyelia

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NINDS:46 Syringomyelia (sear-IN-go-my-EEL-ya) is a disorder in which a 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. Other symptoms may include headaches and a loss of the ability to feel extremes of hot or cold, especially in the hands. Each patient experiences a different combination of symptoms. Magnetic resonance imaging (MRI) has significantly increased the number of syringomyelia cases diagnosed in the beginning stages of the disorder. 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 occurs during the development of the fetus and causes the lower part of the cerebellum to protrude from its normal location in the back of the head into the cervical or neck portion of the spinal canal. Syringomyelia may occur as a complication of trauma, meningitis, hemorrhage, a tumor, or arachnoiditis. 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 spinal cord ependymoma and chiari malformation. An important gene associated with Syringomyelia is ACY1 (Aminoacylase 1), and among its related pathways are Vemurafenib Pathway, Pharmacodynamics 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 limbs/digits/tail and hearing/vestibular/ear.

NIH Rare Diseases:45 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, meningitis, hemorrhage, a tumor, or 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: 5/1/2009

MedlinePlus:35 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:68 Syringomyelia /sɪˌrɪŋɡɵmaɪˈiːliə/ is a generic term referring to a disorder in which a cyst or... 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 169)
idRelated DiseaseScoreTop Affiliating Genes
1spinal cord ependymoma29.7AQP4, HSF4
2chiari malformation10.9
3arachnoiditis10.8
4cervicitis10.7
5scoliosis10.7
6hydrocephalus10.6
7syringobulbia10.6
8arachnoid cysts10.5
9idiopathic syringomyelia10.5
10arthropathy10.5
11familial syringomyelia10.5
12hydromyelia10.4
13meningitis10.4
14secondary syringomyelia10.4
15primary syringomyelia10.4
16spondylosis10.4
17spinal cord injury10.3
18hemangioblastoma10.3
19chiari malformation type 110.3
20tangier disease10.2
21chiari malformation type 210.2
22ependymoma10.2
23tuberculous meningitis10.2
24medulloblastoma10.2
25neurocutaneous melanosis, somatic10.2
26normal pressure hydrocephalus10.2
27myelomeningocele10.2
28peritonitis10.2
29spinal cord disease10.2
30congenital muscular dystrophy syringomyelia10.2
31neural tube defects10.1
32hajdu-cheney syndrome10.1
33tethered spinal cord syndrome10.1
34klippel-feil syndrome10.1
35cerebellopontine angle meningioma10.1
36idiopathic scoliosis10.1
37central nervous system disease10.1
38congenital nervous system abnormality10.1
39nervous system disease10.1
40neurologic diseases10.1
41adolescent idiopathic scoliosis10.1
42foot drop10.1
43headache10.1
44congenital hydrocephalus10.1
45dandy-walker syndrome10.0
46cleidocranial dysplasia10.0
47neurofibromatosis, type 110.0
48pityriasis rubra pilaris10.0
49spinal stenosis10.0
50spondylolysis10.0

Graphical network of the top 20 diseases related to Syringomyelia:



Diseases related to syringomyelia

Symptoms for Syringomyelia

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Drugs & Therapeutics for Syringomyelia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Trial of a Serious Game for Individuals With SCI/DRecruitingNCT02341950Phase 3
2Safety of Autologous Human Schwann Cells (ahSC) in Subjects With Subacute SCIActive, not recruitingNCT01739023Phase 1
3Establishing the Physiology of SyringomyeliaCompletedNCT00001327
4Study and Surgical Treatment of SyringomyeliaCompletedNCT00011245
5Centralized Reading Assessment of Chronic CerebroSpinal Venous Insufficiency (CCSVI) in Patients With Multiple Sclerosis and Other Neurological DiseasesCompletedNCT02308579
6Characterization of At-risk Population for Pre-sacral Tumor in CURRARINO SyndromeCompletedNCT00780117
7A Prospective Natural History Study of Patients With SyringomyeliaRecruitingNCT01150708
8Genetic Analysis of the Chiari I MalformationRecruitingNCT00004738
9The Genetics of Chiari Type I MalformationActive, not recruitingNCT01060800
10Posterior 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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Anatomical Context for Syringomyelia

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MalaCards organs/tissues related to Syringomyelia:

33
Spinal cord, Brain, Cerebellum, Bone, Testes, Skin, Tonsil

Animal Models for Syringomyelia or affiliated genes

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MGI Mouse Phenotypes related to Syringomyelia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8COL1A1, FGFR2, NRAS, VDR
2MP:00053778.7AQP4, COL1A1, FGFR2, VDR
3MP:00053818.2AQP4, COL1A1, FGFR2, NRAS, VDR
4MP:00053798.1AQP4, COL1A1, FGFR2, GH1, VDR
5MP:00053917.9AQP4, COL1A1, FGFR2, HSF4, NRAS

Publications for Syringomyelia

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Articles related to Syringomyelia:

(show top 50)    (show all 713)
idTitleAuthorsYear
1
The roads to mitochondrial dysfunction in a rat model of posttraumatic syringomyelia. (25685811)
2015
2
C-5 palsy after cerebrospinal fluid diversion in posttraumatic syringomyelia: case report. (25658467)
2015
3
Syringomyelia: a practical, clinical concept for classification. (25236931)
2014
4
Two siblings with neuropathic scoliosis caused by Chiari malformation type I with syringomyelia. (24379017)
2014
5
Charcot arthropathy of the elbow joint as a presenting feature of Chiari malformation with syringomyelia. (25076017)
2014
6
Syringomyelia associated with spinal arachnoiditis treated by partial arachnoid dissection and syrinx-far distal subarachnoid shunt. (25232285)
2014
7
Preserved sensory-motor function despite large-scale morphological alterations in a series of patients with holocord syringomyelia. (25219978)
2014
8
Chiari-like malformation and syringomyelia in American Brussels Griffon dogs. (25145262)
2014
9
Six-year follow-up of a case series with non-communicating syringomyelia in multiple sclerosis. (23252517)
2013
10
Syringomyelia associated with Paget disease of the skull. (23438664)
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
Charcot knee secondary to lumbar spinal cord syringomyelia: complication of spinal anesthesia. (22647866)
2012
18
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
19
Difficult intubation in a parturient with syringomyelia and Arnold-Chiari malformation: Use of Airtraq laryngoscope. (22144932)
2011
20
CSF Flow in Chiari I and Syringomyelia from the Perspective of Computational Fluid Dynamics. (24059568)
2011
21
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
22
Relationship of brain parenchyma within the caudal cranial fossa and ventricle size to syringomyelia in cavalier King Charles spaniels. (20536691)
2010
23
Spinal subarachnoid space pressure measurements in an in vitro spinal stenosis model: implications on syringomyelia theories. (21034148)
2010
24
Bilateral brachial plexus palsy and right Horner syndrome due to congenital cervicothoracal syringomyelia. (19765926)
2010
25
Conus ependymoma with holocord syringomyelia. (19587487)
2009
26
Syringopleural shunt as a rescue procedure in patients with syringomyelia refractory to restoration of cerebrospinal fluid flow. (19687691)
2009
27
Spontaneous regression of syringomyelia--review of the current aetiological theories and implications for surgery. (18710806)
2008
28
Syringomyelia-associated scoliosis with and without the Chiari I malformation. (18611998)
2008
29
Interstitial spinal-cord oedema in syringomyelia associated with Chiari type 1 malformations. (18403441)
2008
30
Reversible tonsillar prolapse and syringomyelia after embolization of a tectal arteriovenous malformation. Case report and review of the literature. (17695398)
2007
31
Regression of syringomyelia and tonsillar herniation after posterior fossa arachnoid cyst excision. Case report and literature review. (17622461)
2007
32
Spontaneous regression of lipomyelomeningocele associated with terminal syringomyelia in a child. Case report. (17918535)
2007
33
Syringomyelia with syringobulbia. (18405132)
2007
34
Scoliosis in a child with Chiari I malformation and the absence of syringomyelia: case report and a review of the literature. (16532361)
2006
35
Syringomyelia: an early complication of tuberculous meningitis. (17034715)
2006
36
Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature. (15821947)
2005
37
Syringomyelia with Chiari malformation; 3 unusual cases with implications for pathogenesis. (15744850)
2004
38
Syringomyelia caused by cervical spondylosis. (14963752)
2004
39
Vertebral malformation, syringomyelia, and ventricular septal defect in a dromedary camel (Camelius dromedarius). (15305748)
2004
40
Effects of surgery on the sensory deficits of syringomyelia and predictors of outcome: a long term prospective study. (15201364)
2004
41
Persistent syringomyelia following pediatric Chiari I decompression: radiological and surgical findings. (15287455)
2004
42
Hiccups attributable to syringobulbia and/or syringomyelia associated with a Chiari I malformation: case report. (14683562)
2004
43
Syringomyelia associated with foramen magnum arachnoiditis. (12408385)
2002
44
Treatment of Chiari I malformation in patients with and without syringomyelia: a consecutive series of 66 cases. (16724813)
2001
45
Post-traumatic syringomyelia following complete neurological recovery. (11035481)
2000
46
Spontaneous resolution of idiopathic syringomyelia: MR features. (1545037)
1992
47
Pathogenesis and treatment of delayed post-traumatic syringomyelia. (1882724)
1991
48
Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease. (1802966)
1991
49
Progressive late post-traumatic syringomyelia. (7220072)
1981
50
Klippel-Feil syndrome. Syringomyelia, diastematomyelia, and myelomeningocele--one disease? (13896922)
1961

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:00057948.5COL1A1, 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet