MCID: SYR001
MIFTS: 55

Syringomyelia malady

Neuronal diseases category

Summaries for Syringomyelia

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42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 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: Syringomyelia, also known as hydromyelia, is related to meningitis and meningioma. An important gene associated with Syringomyelia is AQP4 (aquaporin 4), and among its related pathways are RXR and RAR heterodimerization with other nuclear receptor and PTEN Pathway. The compounds pge2 and apai have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and cerebellum, and related mouse phenotypes are renal/urinary system and muscle.

NIH Rare Diseases:42 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:33 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:63 Syringomyelia /sɪˌrɪŋɡɵmaɪˈiːliə/ is a generic term referring to a disorder in which a cyst or... more...

Description from OMIM:46 186700

Aliases & Classifications for Syringomyelia

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8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 48Orphanet, 46OMIM, 33MedlinePlus, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
syringomyelia:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

syringomyelia 8 42 43 10 48 46 33 60
hydromyelia 48


External Ids:

Disease Ontology8 DOID:327
MeSH34 D013595
NCIt39 C85179
OMIM46 186700
MESH via Orphanet35 D013595
ICD10 via Orphanet26 G95.0
SNOMED-CT via Orphanet57 111496009
UMLS via Orphanet61 C0039144

Related Diseases for Syringomyelia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Syringomyelia:



Diseases related to syringomyelia

Clinical Features for Syringomyelia

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46OMIM
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Clinical features from OMIM:

186700

Clinical synopsis from OMIM:

186700

Drugs & Therapeutics for Syringomyelia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Syringomyelia

Drug clinical trials:

Search ClinicalTrials for Syringomyelia

Search NIH Clinical Center for Syringomyelia

Search CenterWatch for Syringomyelia

Genetic Tests for Syringomyelia

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Anatomical Context for Syringomyelia

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32MalaCards
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MalaCards organs/tissues related to Syringomyelia:

32
Spinal cord, Brain, Cerebellum, Bone, Skin, Testes, Pineal, Dorsal root ganglion, Tonsil, Liver, Bone marrow

Animal Models for Syringomyelia or affiliated genes

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36MGI
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Publications for Syringomyelia

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50PubMed
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Articles related to Syringomyelia:

(show top 50)    (show all 666)
idTitleAuthorsYear
1
Two siblings with neuropathic scoliosis caused by Chiari malformation type I with syringomyelia. (24379017)
2014
2
Surgical treatment of Chiari I malformation complicated with syringomyelia. (23251294)
2013
3
The Chiari Symptom Profile: development and validation of a Chiari-/syringomyelia-specific questionnaire. (23812050)
2013
4
Clinical course of incidental syringomyelia without predisposing pathologies. (22386658)
2012
5
Tonsillar herniation and syringomyelia caused by long-standing occlusive hydrocephalus due to aqueductal stenosis: rapid resolution after endoscopic third ventriculostomy--a case report. (21317417)
2012
6
Pedicle morphology of the thoracic and lumbar spine in scoliosis associated with Chiari malformation/syringomyelia: comparison with adolescent idiopathic scoliosis. (21558965)
2012
7
Effects of syringomyelia on electrodiagnostic test results in Cavalier King Charles Spaniels. (21529209)
2011
8
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. (20959866)
2011
9
Treatment practices for Chiari malformation type I with syringomyelia: results of a survey of the American Society of Pediatric Neurosurgeons. (22044364)
2011
10
Holocord syringomyelia presenting as rapidly progressive foot drop. (21897691)
2011
11
Brainstem hypertrophy, acquired Chiari malformation, syringomyelia, and hydrocephalus: diagnostic dilemma. (21806361)
2011
12
Foramen magnum arachnoid cyst induces compression of the spinal cord and syringomyelia: case report and literature review. (21647327)
2011
13
Differentiation of endogenous progenitors in an animal model of post-traumatic syringomyelia. (20421862)
2010
14
Surgical treatment of post-traumatic syringomyelia. (20309005)
2010
15
Conus ependymoma with holocord syringomyelia. (19587487)
2009
16
Transverse dorsal arachnoid web and syringomyelia: case report. (19574806)
2009
17
Syringomyelia associated with a spinal arachnoid cyst. (19516954)
2009
18
Long-term follow-up of Chiari-related syringomyelia in adults: analysis of 157 surgically treated cases. (19190458)
2009
19
Radiological presentations in relation to curve severity in scoliosis associated with syringomyelia. (18157058)
2008
20
Neuronal and vascular biomarkers in syringomyelia: investigations using longitudinal MRI. (20477433)
2008
21
Chiari I malformation associated with syringomyelia: a retrospective study of 316 surgically treated patients. (18026173)
2008
22
Syringomyelia from complicated posttraumatic hydrocephalus. (18936560)
2008
23
Pathophysiology and treatment of neuropathic pain associated with syringomyelia. (17317245)
2008
24
Scoliosis associated with syringomyelia: analysis of MRI and curve progression. (17701226)
2007
25
Disproportionately large communicating fourth ventricle with syringomyelia: case report. (17587782)
2007
26
Radiologic presentations in relation to curve severity in scoliosis associated with syringomyelia. (17108484)
2006
27
Unilateral seborrheic dermatitis after decompression of Chiari I malformation and syringomyelia. (16844532)
2006
28
Spontaneous resolution of syringomyelia without Chiari malformation. (17062993)
2006
29
Evidence of familial syringomyelia in discordant association with Chiari type I malformation. (16834711)
2006
30
Primary spinal syringomyelia. Invited submission from the joint section meeting on disorders of the spine and peripheral nerves, March 2005. (16381204)
2005
31
Noncommunicating cysts and cerebrospinal fluid flow dynamics in a patient with a Chiari I malformation and syringomyelia--part II. (15959381)
2005
32
Syringomyelia caused by cervical spondylosis. (14963752)
2004
33
Vertebral malformation, syringomyelia, and ventricular septal defect in a dromedary camel (Camelius dromedarius). (15305748)
2004
34
International survey on the management of Chiari I malformation and syringomyelia. (14966661)
2004
35
Painful arm in syringomyelia and Fabry disease. (15028855)
2004
36
Diffusion tensor MRI of the cervical cord in a patient with syringomyelia and multiple sclerosis. (15489410)
2004
37
Anaesthesia for caesarean section in a patient with syringomyelia and Arnold-Chiari type I malformation. (15321417)
2004
38
Scoliotic curve patterns in patients with Chiari I malformation and/or syringomyelia. (14501926)
2003
39
Post-traumatic syringomyelia: a review. (12852875)
2003
40
Syringomyelia with syringobulbia presenting only with paralysis of 9th and 10th cranial nerves. (11939952)
2002
41
Dandy-Walker complex and syringomyelia in an adult: case report and discussion. (11844250)
2002
42
Secondary syringomyelia disappearing after removal of tentorial meningioma. (12181709)
2002
43
Multiple sclerosis with secondary syringomyelia. An autopsy report. (11239955)
2001
44
Classification of syringomyelia. (16676921)
2000
45
Dynamic CSF flow study in the pathophysiology of syringomyelia associated with arachnoid cysts of the posterior fossa. (11013645)
1998
46
Electrophysiologic findings in post-traumatic syringomyelia: implications for clinical management. (1583502)
1992
47
Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease. (1802966)
1991
48
Cleidocranial dysostosis and syringomyelia. Review of the literature and case report. (3791747)
1987
49
The diagnosis and management of post traumatic syringomyelia. (3627822)
1987
50
Progressive course of arachnoiditis simulating syringomyelia. (13094267)
1953

Genetic Variations for Syringomyelia

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Expression for genes affiliated with Syringomyelia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Syringomyelia

Search GEO for disease gene expression data for Syringomyelia.

Pathways for genes affiliated with Syringomyelia

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37NCBI BioSystems Database, 51QIAGEN, 53Reactome
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Compounds for genes affiliated with Syringomyelia

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 49PharmGKB, 2BitterDB
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Compounds related to Syringomyelia according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1pge24410.4COL1A1
2apai4410.1COL1A1, VDR
3estrogen4410.1VDR, CD79A
4penicillin4410.1CD79A, ACY1
5azithromycin44 1111.0SRF, CD79A
6xbai449.9COL1A1, VDR
7pilocarpine44 28 1111.9CD79A, SRF
8glycosaminoglycan449.8COL1A1, FGFR2, SRF
91,25 dihydroxy vitamin d3449.8VDR, GH1, COL1A1
10suramin44 28 1111.7SRF, FGFR2, CD79A
11carnitine449.7SRF, ABCA1, CD79A
12thyroxine44 2410.6CD79A, VDR, GH1
13glycerol44 11 2411.6AQP4, CD79A, GH1
14creatinine449.4SRF, CD79A, VDR
15guanine44 11 2411.4SRF, FGFR2, VDR, GH1
16dihydrotestosterone44 28 11 2412.4SRF, CD79A, VDR, GH1
17serine449.3SRF, VDR, GH1
18vitamin d449.3COL1A1, GH1, VDR, CD79A, FGFR2
19cyclosporin a44 28 5911.3SRF, ABCA1, CD79A, VDR
20heparin44 28 11 2412.3GH1, CD79A, SRF
21tacrolimus44 49 1111.2ABCA1, CD79A, VDR
22thymidine44 2410.1COL1A1, GH1, VDR, FGFR2, SRF
23genistein44 28 59 2 11 2414.1GH1, VDR, FGFR2, ABCA1, SRF
24vegf449.1COL1A1, GH1, CD79A, FGFR2, SRF
25cysteine449.0AQP4, FGFR2, CD79A, VDR, GH1, COL1A1
26oligonucleotide449.0COL1A1, GH1, FGFR2, ABCA1, SRF, AQP4
27alanine449.0COL1A1, GH1, VDR, CD79A, SRF
28glutamate448.9VDR, CD79A, FGFR2, ABCA1, SRF, AQP4
29testosterone44 59 11 2411.8GH1, VDR, CD79A, FGFR2, ABCA1, SRF
30arginine448.8COL1A1, GH1, VDR, CD79A, FGFR2, SRF
31dexamethasone44 49 28 1111.6COL1A1, GH1, VDR, CD79A, ABCA1, SRF
32retinoic acid44 249.3AQP4, COL1A1, GH1, VDR, CD79A, FGFR2

GO Terms for genes affiliated with Syringomyelia

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16Gene Ontology
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Biological processes related to Syringomyelia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.9GH1, CRLF1
2skin morphogenesisGO:0435899.6SRF, COL1A1
3regulation of smooth muscle cell differentiationGO:0511509.5SRF, FGFR2

Molecular functions related to Syringomyelia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055155.7SRF, CTNNBL1, ARHGAP17, CRLF1, GH1, WDHD1

Products for genes affiliated with Syringomyelia

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  • Antibodies
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Sources for Syringomyelia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet