MCID: SYR001
MIFTS: 52

Syringomyelia malady

Neuronal category

Summaries for Syringomyelia

Sources:
43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 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 hydromelia, is related to arthritis and secondary syringomyelia. 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 skin, liver and spinal cord, and related mouse phenotypes are renal/urinary system and muscle.

NIH Rare Diseases:43 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:34 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:64 Syringomyelia /sɪˌrɪŋɡɵmaɪˈiːliə/ is a generic term referring to a disorder in which a cyst or... more...

Description from OMIM:47 186700

Aliases & Classifications for Syringomyelia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 49Orphanet, 47OMIM, 34MedlinePlus, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
syringomyelia:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

syringomyelia 8 43 44 10 49 47 34 61
hydromelia 49


External Ids:

Disease Ontology8 DOID:327
MeSH35 D013595
NCIt40 C85179
OMIM47 186700
MESH via Orphanet36 D013595
ICD10 via Orphanet26 G95.0
SNOMED-CT via Orphanet58 111496009
UMLS via Orphanet62 C0039144

Related Diseases for Syringomyelia

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



Diseases related to syringomyelia

Clinical Features for Syringomyelia

Sources:
47OMIM
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Clinical features from OMIM:

186700

Clinical synopsis from OMIM:

186700

Drugs & Therapeutics for Syringomyelia

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Syringomyelia

Sources:
33MalaCards
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MalaCards organs/tissues related to Syringomyelia:

33
Skin, Liver, Spinal cord, Brain, Bone marrow, Cerebellum, Tonsil, T cells, Dorsal root ganglion, Trigeminal ganglion, Pineal

Animal Models for Syringomyelia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Syringomyelia

Sources:
51PubMed
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Articles related to Syringomyelia:

(show top 50)    (show all 667)
idTitleAuthorsYear
1
Syringomyelia associated with Paget disease of the skull. (23438664)
2013
2
Treatment of syringomyelia related to nontraumatic arachnoid pathologies of the spinal canal. (23208064)
2013
3
Case 191: giant hemorrhagic syringomyelia and syringobulbia mimicking intramedullary neoplasm. (23431229)
2013
4
Histopathological investigation of syringomyelia in the Cavalier King Charles spaniel. (21889166)
2012
5
Fluid outflow in a large-animal model of posttraumatic syringomyelia. (22513840)
2012
6
Surgical results of arachnoid-preserving posterior fossa decompression for Chiari I malformation with associated syringomyelia. (22300790)
2012
7
Charles Prosper Ollivier d'Angers (1796-1845) and his contributions to defining syringomyelia. (21390507)
2011
8
Idiopathic syringomyelia: retrospective case series, comprehensive review, and update on management. (22133183)
2011
9
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
10
Relationship of brain parenchyma within the caudal cranial fossa and ventricle size to syringomyelia in cavalier King Charles spaniels. (20536691)
2010
11
Spinal subarachnoid space pressure measurements in an in vitro spinal stenosis model: implications on syringomyelia theories. (21034148)
2010
12
Neuropathic arthropathy progressing with multiple joint involvement in the upper extremity due to syringomyelia and type I Arnold-Chiari malformation. (19547980)
2010
13
Morphometric assessment of cranial volumes in age-matched Cavalier King Charles spaniels with and without syringomyelia. (21262715)
2010
14
Fractional anisotropy levels derived from diffusion tensor imaging in cervical syringomyelia. (20881553)
2010
15
Pathophysiology of persistent syringomyelia after decompressive craniocervical surgery. Clinical article. (21121751)
2010
16
The correlations between a proposed pathogenesis of syringomyelia and normal pressure hydrocephalus. (20714911)
2010
17
Response to the expert's comment of P. Suchomel concerning grand rounds case entitled "Syringomyelia with irreducible atlantoaxial dislocation, basilar invagination and Chiari I malformation", Eur Spine J, Vol 19, no 3, 2010: pp 367-369 (by Shenglin Wang et al.). (20407793)
2010
18
Tonsillar herniation and cervical syringomyelia due to postoperative meningitis in case of pineal region epidermoid. (19258731)
2009
19
Idiopathic syringomyelia: phase-contrast MR of cerebrospinal fluid flow dynamics at level of foramen magnum. (19567652)
2009
20
Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I. (18826365)
2008
21
Acquired Chiari I malformation and syringomyelia after valveless lumboperitoneal shunt in infancy. (18354264)
2008
22
Syringomyelia secondary to posthemorrhagic hydrocephalus in a preterm infant. (18279758)
2008
23
A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida. (18405364)
2008
24
Three-dimensional constructive interference in steady-state magnetic resonance imaging in syringomyelia: advantages over conventional imaging. (18447688)
2008
25
Cardiac-gated phase-contrast magnetic resonance imaging of cerebrospinal fluid flow in the diagnosis of idiopathic syringomyelia. (19057326)
2008
26
Identifying myelopathy caused by thoracic syringomyelia: a case report. (19119392)
2008
27
Immediate resolution of tonsillar herniation and severe cervicothoracic syringomyelia after third ventriculostomy for hydrocephalus caused by a brainstem tumor. Case report. (17233312)
2007
28
Idiopathic recurrent transverse myelitis with syringomyelia: a case report. (17939113)
2007
29
Spontaneously resorbed idiopathic syringomyelia: a case report. (18050066)
2007
30
Impacted cisterna magna without syringomyelia associated with lancinating headache, throbbed nuchal pain and paraparesis treated byposterior fossa decompression. (18345436)
2007
31
Syringomyelia extending to the corona radiata. (16619128)
2006
32
Syringomyelia: current concepts in pathogenesis, diagnosis, and treatment. (16734077)
2006
33
Subarachnoid pressure-dependent change in syrinx size in a patient with syringomyelia associated with adhesive arachnoiditis. Case report. (15739536)
2005
34
Progressive syringomyelia controlled by treatment of associated hydrocephalus in an infant with birth injury. Case report. (16370292)
2005
35
Syringomyelia, neuropathic pain and Caesarean section. (15473626)
2004
36
Spontaneous resolution of a Chiari I malformation associated syringomyelia in one child. (14963755)
2004
37
Clinical manifestations and significance of post-traumatic thoracolumbar syringomyelia. (14728821)
2004
38
The etiology of syringomyelia in association with lesions of the foramen magnum. (15140599)
2004
39
The nature, meanings, and dynamics of lived experiences of a person with syringomyelia: a phenomenological study. (14626013)
2003
40
Current opinions for the treatment of syringomyelia and chiari malformations: survey of the Pediatric Section of the American Association of Neurological Surgeons. (11182642)
2000
41
Pain and syringomyelia: a review. (16676923)
2000
42
The treatment dilemma in post-traumatic syringomyelia. (10548082)
1999
43
Secondary syringomyelia due to intramedullary spinal cord metastasis. Case report and review of literature. (9391544)
1997
44
Spontaneous resolution of idiopathic syringomyelia: MR features. (1545037)
1992
45
Chiari malformation hydromyelia vs. syringomyelia. (1588414)
1992
46
Pathogenesis and treatment of delayed post-traumatic syringomyelia. (1882724)
1991
47
Neurocutaneous melanosis with hydrocephalus and syringomyelia. Case report. (3964849)
1985
48
Syringomyelia following lumboureteral shunting for communicating hydrocephalus. Report of three cases. (864509)
1977
49
The Dandy-Walker syndrome associated with syringomyelia in a newborn infant. (5550205)
1971
50
Pityriasis Rubra Pilaris with Ainhum and Syringomyelia. (19993248)
1946

Genetic Variations for Syringomyelia

Expression for genes affiliated with Syringomyelia

Sources:
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

Sources:
38NCBI BioSystems Database, 52QIAGEN, 54Reactome
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Compounds for genes affiliated with Syringomyelia

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience, 50PharmGKB, 2BitterDB
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Compounds related to Syringomyelia according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1pge24510.4COL1A1
2apai4510.1COL1A1, VDR
3estrogen4510.1VDR, CD79A
4penicillin4510.1CD79A, ACY1
5azithromycin45 1111.0SRF, CD79A
6xbai459.9COL1A1, VDR
7pilocarpine45 29 1111.9CD79A, SRF
8glycosaminoglycan459.8COL1A1, FGFR2, SRF
91,25 dihydroxy vitamin d3459.8VDR, GH1, COL1A1
10suramin45 29 1111.7SRF, FGFR2, CD79A
11carnitine459.7SRF, ABCA1, CD79A
12thyroxine45 2410.6CD79A, VDR, GH1
13glycerol45 11 2411.6AQP4, CD79A, GH1
14creatinine459.4SRF, CD79A, VDR
15guanine45 11 2411.4SRF, FGFR2, VDR, GH1
16dihydrotestosterone45 29 11 2412.4SRF, CD79A, VDR, GH1
17serine459.3SRF, VDR, GH1
18vitamin d459.3COL1A1, GH1, VDR, CD79A, FGFR2
19cyclosporin a45 29 6011.3SRF, ABCA1, CD79A, VDR
20heparin45 29 11 2412.3GH1, CD79A, SRF
21tacrolimus45 50 1111.2ABCA1, CD79A, VDR
22thymidine45 2410.1COL1A1, GH1, VDR, FGFR2, SRF
23genistein45 29 60 2 11 2414.1GH1, VDR, FGFR2, ABCA1, SRF
24vegf459.1COL1A1, GH1, CD79A, FGFR2, SRF
25cysteine459.0AQP4, FGFR2, CD79A, VDR, GH1, COL1A1
26oligonucleotide459.0COL1A1, GH1, FGFR2, ABCA1, SRF, AQP4
27alanine459.0COL1A1, GH1, VDR, CD79A, SRF
28glutamate458.9VDR, CD79A, FGFR2, ABCA1, SRF, AQP4
29testosterone45 60 11 2411.8GH1, VDR, CD79A, FGFR2, ABCA1, SRF
30arginine458.8COL1A1, GH1, VDR, CD79A, FGFR2, SRF
31dexamethasone45 50 29 1111.6COL1A1, GH1, VDR, CD79A, ABCA1, SRF
32retinoic acid45 249.3AQP4, COL1A1, GH1, VDR, CD79A, FGFR2

GO Terms for genes affiliated with Syringomyelia

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Syringomyelia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet