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, Testes, Bone, Skin, Liver, Tonsil, Pineal, Dorsal root ganglion, 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
Chiari 1 malformation and holocord syringomyelia in hunter syndrome. (23818180)
2014
2
One Stage Correction Surgery of Scoliosis Associated With Syringomyelia: Is it Safe to Leave Untreated a Syrinx Without Neurological Symptom? (23249885)
2013
3
Changes in temporal flow characteristics of CSF in Chiari malformation Type I with and without syringomyelia: implications for theory of syrinx development. (23495878)
2013
4
Spontaneous regression of syringomyelia in a young patient with Chiari type I malformation. (24029095)
2012
5
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
6
Dual gliomas with syringomyelia in a child: case report and literature review. (23406771)
2012
7
Long-term results after posterior fossa decompression in syringomyelia with adult Chiari Type I malformation. (22938552)
2012
8
Syringomyelia due to thoracic spinal stenosis with ossified ligamentum flavum--case report. (21358164)
2011
9
Midterm outcomes after humeral head replacement with rotator cuff repair in patients with syringomyelia shoulder neuroarthropathy: a report on three cases. (21831670)
2011
10
Terminal ventriculostomy as an adjuvant treatment of complex syringomyelia: a case report and review of the literature. (21523358)
2011
11
Defining the line between hydromyelia and syringomyelia. A differentiation is possible based on electrophysiological and magnetic resonance imaging studies. (19533016)
2010
12
Expert's comment concerning Grand Rounds case entitled "Syringomyelia with irreducible atlantoaxial dislocation, basilar invagination and Chiari I malformation" (by Shenglin Wang, Chao Wang, Ming Yan, Haitao Zhou, Liang Jiang). (20238471)
2010
13
Pathogenesis of syringomyelia associated with Chiari type 1 malformation: review of evidences and proposal of a new hypothesis. (20532585)
2010
14
Factors contributing improvement of syringomyelia and surgical outcome in type I Chiari malformation. (19057907)
2009
15
Syringomyelia and Chiari malformations. Quiz. (19234921)
2009
16
The influence of coughing on cerebrospinal fluid pressure in an in vitro syringomyelia model with spinal subarachnoid space stenosis. (20043856)
2009
17
Syringomyelia-associated scoliosis with and without the Chiari I malformation. (18611998)
2008
18
Non-communicating syringomyelia: a feature of spinal cord involvement in multiple sclerosis. (18515871)
2008
19
Acquired tonsillar herniation and syringomyelia after pleural effusion aspiration: case report. (18580789)
2008
20
Radiographic morphology of the cranial portion of the cervical vertebral column in Cavalier King Charles Spaniels and its relationship to syringomyelia. (18167092)
2008
21
Reversible tonsillar prolapse and syringomyelia after embolization of a tectal arteriovenous malformation. Case report and review of the literature. (17695398)
2007
22
Regression of syringomyelia and tonsillar herniation after posterior fossa arachnoid cyst excision. Case report and literature review. (17622461)
2007
23
Tuberculous meningitis presenting as mesencephalic infarction and syringomyelia. (17588607)
2007
24
Paroxysmal cervicobrachial cough-induced pain in a patient with syringomyelia extending into spinal cord posterior gray horns. (17410326)
2007
25
Lhermitte-duclos disease with syringomyelia. A report of two cases. (24299673)
2007
26
Cerebrospinal fluid dynamics in Chiari malformation associated with syringomyelia. (17355825)
2007
27
Idiopathic syringomyelia: case report and review of the literature. (17370776)
2006
28
Chapter 47 Pain in syringomyelia/bulbia. (18808869)
2006
29
A case of syringomyelia associated with cervical spondylosis. (16980666)
2006
30
Pathogenesis of tumor-associated syringomyelia demonstrated by peritumoral contrast material leakage. Case illustration. (16703915)
2006
31
Chiari I malformation accompanied by assimilation of the atlas, Klippel-Feil syndrome, and syringomyelia: case report. (16630916)
2006
32
Syringes and syringomyelia. (16401904)
2005
33
Persistent syringomyelia following pediatric Chiari I decompression: radiological and surgical findings. (15287455)
2004
34
Clinical and neuroimaging features of "idiopathic" syringomyelia. (15007134)
2004
35
Syringomyelia-like manifestation of subacute combined degeneration. (15261251)
2004
36
Neuropathic arthropathy caused by Arnold-Chiari malformation with syringomyelia. (14648112)
2004
37
Tonsillar herniation and syringomyelia secondary to a posterior fossa tumour. (15040721)
2004
38
Secondary holocord syringomyelia with spinal hemangioblastoma: a report of two cases. (12865521)
2003
39
Cerebellopontine angle meningioma with acquired chiari and syringomyelia: neuroimage. (11593259)
2001
40
Surgical management of syringomyelia associated with spinal adhesive arachnoiditis. (11148076)
2001
41
Cleidocranial dysplasia and syringomyelia. Case report. (9049895)
1996
42
Syringomyelia secondary to tonsillar herniation caused by posterior fossa tumors. (7660286)
1995
43
Mean term follow-up of a series of post-traumatic syringomyelia patients after syringo-peritoneal shunting. (7630647)
1995
44
Pathogenesis of post-traumatic syringomyelia. (8011188)
1994
45
Thecoperitoneal shunt for post-traumatic syringomyelia. (8006663)
1994
46
Syringo-subarachnoid shunt for syringomyelia associated with Chiari malformation (type 1). (2077852)
1990
47
Neuropathic arthropathy as a complication of post-traumatic syringomyelia. (3620829)
1987
48
Syringomyelia associated with a foramen magnum meningioma. (3975813)
1985
49
Syringomyelia and syringobulbia secondary to arachnoiditis and fourth ventricle blockage due to cysticercosis. A case report. (6939277)
1981
50
Post-traumatic syringomyelia (cystic myelopathy). (7220070)
1981

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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  • Antibodies

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