MCID: SYR001
MIFTS: 60

Syringomyelia malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases categories
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Summaries for Syringomyelia

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43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 65Wikipedia, 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 hydromyelia, is related to multiple sclerosis and ankylosing spondylitis. An important gene associated with Syringomyelia is ACY1 (aminoacylase 1), and among its related pathways are RXR and RAR heterodimerization with other nuclear receptor and Nuclear receptors in lipid metabolism and toxicity. The compounds penicillin and apai have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and cerebellum, and related mouse phenotypes are hearing/vestibular/ear and liver/biliary system.

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:65 Syringomyelia /s??r????ma??i?li?/ is a generic term referring to a disorder in which a cyst or cavity... more...

Description from OMIM:47 186700

Aliases & Classifications for Syringomyelia

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8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 49Orphanet, 47OMIM, 34MedlinePlus, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



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 62
hydromyelia 49


External Ids:

Disease Ontology8 DOID:327
NCIt40 C85179
MeSH35 D013595
OMIM47 186700
MESH via Orphanet36 D013595
ICD10 via Orphanet26 G95.0
SNOMED-CT via Orphanet59 111496009
UMLS via Orphanet63 C0039144

Related Diseases for Syringomyelia

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17GeneCards, 18GeneDecks
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Diseases in the Syringomyelia family:

Familial Syringomyelia Primary Syringomyelia

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

(show top 50)    (show all 156)
idRelated DiseaseScoreTop Affiliating Genes
1multiple sclerosis30.3SRF, AQP4, VDR
2ankylosing spondylitis29.9CD79A, SRF
3chiari malformation10.8
4arachnoiditis10.7
5cervicitis10.6
6hydrocephalus10.6
7syringobulbia10.5
8arachnoid cysts10.5
9idiopathic syringomyelia10.5
10arthropathy10.4
11secondary syringomyelia10.4
12meningitis10.3
13hydromyelia10.3
14meningioma10.3
15spondylosis10.3
16primary syringomyelia10.3
17syringohydromyelia10.2
18tangier disease10.2
19ependymoma10.2
20tuberculous meningitis10.2
21familial syringomyelia10.2
22hemangioblastoma10.2
23medulloblastoma10.2
24peritonitis10.2
25myelomeningocele10.2
26hajdu-cheney syndrome10.1
27klippel-feil syndrome10.1
28cerebellopontine angle meningioma10.1
29chiari malformation type 110.1
30congenital muscular dystrophy syringomyelia10.1
31headache10.1
32spinal cord injury10.1
33infectious mononucleosis10.1CD79A
34scott syndrome10.1ABCA1
35dentinogenesis imperfecta10.1COL1A1
36beare-stevenson cutis gyrata syndrome10.1FGFR2
37prostatitis10.1VDR, CD79A
38immunodeficiency, common variable, 710.0VDR, CD79A
39lumbar disc disease10.0VDR, COL1A1
40iga glomerulonephritis10.0CD79A, SRF
41osteoporosis, postmenopausal10.0COL1A1, VDR
42bronchitis10.0VDR, SRF
43parathyroid adenoma10.0FGFR2, VDR
44hypercalcemia10.0SRF, VDR
45neurofibromatosis10.0
46myelitis10.0
47normal pressure hydrocephalus10.0
48dandy-walker syndrome10.0
49pityriasis rubra pilaris10.0
50neuronitis10.0

Graphical network of the top 20 diseases related to Syringomyelia:



Diseases related to syringomyelia

Symptoms for Syringomyelia

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47OMIM
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Symptoms by clinical synopsis from OMIM:

186700

Clinical features from OMIM:

186700

Drugs & Therapeutics for Syringomyelia

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Syringomyelia

Search NIH Clinical Center for Syringomyelia

Genetic Tests for Syringomyelia

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Anatomical Context for Syringomyelia

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33MalaCards
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MalaCards organs/tissues related to Syringomyelia:

33
Spinal cord, Brain, Cerebellum, Skin, Testes, Bone, Tonsil, Pineal, Liver, Dorsal root ganglion, Bone marrow

Animal Models for Syringomyelia or affiliated genes

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37MGI
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Publications for Syringomyelia

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52PubMed
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Articles related to Syringomyelia:

(show top 50)    (show all 656)
idTitleAuthorsYear
1
Two siblings with neuropathic scoliosis caused by Chiari malformation type I with syringomyelia. (24379017)
2014
2
Six-year follow-up of a case series with non-communicating syringomyelia in multiple sclerosis. (23252517)
2013
3
Syringomyelia associated with Paget disease of the skull. (23438664)
2013
4
Spinal syringomyelia following subarachnoid hemorrhage. (22285478)
2012
5
Anesthetic management during Cesarean section in a woman with residual Arnold-Chiari malformation Type I, cervical kyphosis, and syringomyelia. (22439117)
2012
6
Spontaneous regression of syringomyelia in a young patient with Chiari type I malformation. (24029095)
2012
7
Syringo-subarachnoid-peritoneal shunt using T-tube for treatment of post-traumatic syringomyelia. (22993681)
2012
8
The first descriptions of syringomyelia. (22843644)
2012
9
Syringomyelia associated with arachnoid septum at the craniovertebral junction, contradicting the currently prevailing theory of syringomyelia formation. (22052474)
2012
10
Charcot knee secondary to lumbar spinal cord syringomyelia: complication of spinal anesthesia. (22647866)
2012
11
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
12
Difficult intubation in a parturient with syringomyelia and Arnold-Chiari malformation: Use of Airtraq laryngoscope. (22144932)
2011
13
CSF Flow in Chiari I and Syringomyelia from the Perspective of Computational Fluid Dynamics. (24059568)
2011
14
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
15
Relationship of brain parenchyma within the caudal cranial fossa and ventricle size to syringomyelia in cavalier King Charles spaniels. (20536691)
2010
16
Spinal subarachnoid space pressure measurements in an in vitro spinal stenosis model: implications on syringomyelia theories. (21034148)
2010
17
Bilateral brachial plexus palsy and right Horner syndrome due to congenital cervicothoracal syringomyelia. (19765926)
2010
18
Syringomyelia with quadriparesis in CSF shunt malfunction: a case illustration. (20445982)
2010
19
Conus ependymoma with holocord syringomyelia. (19587487)
2009
20
Syringopleural shunt as a rescue procedure in patients with syringomyelia refractory to restoration of cerebrospinal fluid flow. (19687691)
2009
21
Spontaneous syringomyelia resolution at an adult Chiari type 1 malformation. (19263363)
2009
22
Spontaneous regression of syringomyelia--review of the current aetiological theories and implications for surgery. (18710806)
2008
23
Syringomyelia-associated scoliosis with and without the Chiari I malformation. (18611998)
2008
24
Interstitial spinal-cord oedema in syringomyelia associated with Chiari type 1 malformations. (18403441)
2008
25
Radiological presentations in relation to curve severity in scoliosis associated with syringomyelia. (18157058)
2008
26
Reversible tonsillar prolapse and syringomyelia after embolization of a tectal arteriovenous malformation. Case report and review of the literature. (17695398)
2007
27
Regression of syringomyelia and tonsillar herniation after posterior fossa arachnoid cyst excision. Case report and literature review. (17622461)
2007
28
Spontaneous regression of lipomyelomeningocele associated with terminal syringomyelia in a child. Case report. (17918535)
2007
29
Syringomyelia with syringobulbia. (18405132)
2007
30
Hindbrain-hernia-related syringomyelia without syringobulbia, complicated by permanent nocturnal central hypoventilation requiring non-invasive ventilation. (16184409)
2006
31
Scoliosis in a child with Chiari I malformation and the absence of syringomyelia: case report and a review of the literature. (16532361)
2006
32
Syringomyelia: an early complication of tuberculous meningitis. (17034715)
2006
33
Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature. (15821947)
2005
34
Syringomyelia with Chiari malformation; 3 unusual cases with implications for pathogenesis. (15744850)
2004
35
Syringomyelia caused by cervical spondylosis. (14963752)
2004
36
Vertebral malformation, syringomyelia, and ventricular septal defect in a dromedary camel (Camelius dromedarius). (15305748)
2004
37
Effects of surgery on the sensory deficits of syringomyelia and predictors of outcome: a long term prospective study. (15201364)
2004
38
Persistent syringomyelia following pediatric Chiari I decompression: radiological and surgical findings. (15287455)
2004
39
Hiccups attributable to syringobulbia and/or syringomyelia associated with a Chiari I malformation: case report. (14683562)
2004
40
Thoracic syringomyelia and suspected multiple sclerosis: cause and effect or coincidence? (15249639)
2004
41
International survey on the management of Chiari I malformation and syringomyelia. (14966661)
2004
42
Syringomyelia associated with foramen magnum arachnoiditis. (12408385)
2002
43
Treatment of Chiari I malformation in patients with and without syringomyelia: a consecutive series of 66 cases. (16724813)
2001
44
Post-traumatic syringomyelia following complete neurological recovery. (11035481)
2000
45
Spontaneous resolution of idiopathic syringomyelia: MR features. (1545037)
1992
46
Pathogenesis and treatment of delayed post-traumatic syringomyelia. (1882724)
1991
47
Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease. (1802966)
1991
48
Progressive late post-traumatic syringomyelia. (7220072)
1981
49
Post-traumatic syringomyelia. (5120040)
1971
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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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 30KEGG, 53QIAGEN
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Compounds for genes affiliated with Syringomyelia

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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB, 29IUPHAR, 3BitterDB, 61Tocris Bioscience
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Compounds related to Syringomyelia according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1penicillin4510.2ACY1, CD79A
2apai4510.0COL1A1, VDR
3xbai459.9VDR, COL1A1
4glycerol45 24 1111.7CD79A, GH1, AQP4
5salbutamol45 51 29 24 1113.7CD79A, GH1
6azithromycin45 1110.7SRF, CD79A
7pilocarpine45 29 1111.7SRF, CD79A
8deoxypyridinoline459.6GH1, VDR
9tacrolimus45 51 1111.6CD79A, ABCA1, VDR
10aspirin45 51 29 2412.6VDR, ABCA1, CD79A
11thyroxine45 2410.5CD79A, GH1, VDR
12n acetylcysteine459.5ACY1, CD79A, FGFR2
131,25 dihydroxy vitamin d3459.5COL1A1, GH1, VDR
14epinephrine45 24 1111.5GH1, CD79A, FGFR2
15alendronate45 51 1111.4GH1, VDR
16carnitine459.4ABCA1, SRF, CD79A
17ribonucleic acid459.4GH1, COL1A1, FGFR2
18chloramphenicol45 3 51 1112.4VDR, GH1, COL1A1
19okt3459.3CD79A, SRF
20suramin45 29 1111.3FGFR2, CD79A, SRF
21glycosaminoglycan459.3SRF, COL1A1, FGFR2
22agar459.2FGFR2, CD79A, SRF
23methotrexate51 45 1111.2CD79A, GH1, SRF
24steroid459.1FGFR2, CD79A, GH1, VDR
255fluorouracil459.0VDR, SRF, FGFR2
26retinoid458.9GH1, SRF, VDR
27cyclosporin a45 29 6110.9VDR, ABCA1, SRF, CD79A
28heparin45 29 24 1111.8SRF, GH1, CD79A, FGFR2
29vitamin d458.8VDR, GH1, COL1A1, CD79A, FGFR2
30pge2458.8VDR, SRF, COL1A1, CD79A
31progesterone45 29 61 24 1112.8FGFR2, GH1, SRF, ABCA1
32tamoxifen45 51 29 1111.8VDR, GH1, FGFR2
33dihydrotestosterone45 29 24 1111.8CD79A, GH1, SRF, VDR
34creatinine458.7CD79A, GH1, SRF, VDR
35cycloheximide458.7VDR, ABCA1, SRF, GH1
36guanine45 24 1110.7VDR, SRF, GH1, FGFR2
37zinc45 249.7COL1A1, GH1, SRF, ABCA1
38cysteine458.5VDR, AQP4, GH1, COL1A1, CD79A, FGFR2
39vegf458.5FGFR2, CD79A, COL1A1, GH1, SRF
40alanine458.4VDR, SRF, GH1, COL1A1, CD79A
41genistein45 29 61 3 24 1113.4VDR, ABCA1, SRF, GH1, FGFR2
42thymidine45 249.3VDR, SRF, GH1, COL1A1, FGFR2
43oligonucleotide458.2ABCA1, AQP4, SRF, GH1, COL1A1, FGFR2
44glutamate458.2VDR, ABCA1, AQP4, SRF, CD79A, FGFR2
45testosterone45 61 24 1111.0VDR, ABCA1, SRF, GH1, CD79A, FGFR2
46arginine458.0VDR, SRF, GH1, COL1A1, CD79A, FGFR2
47estrogen458.0VDR, SRF, GH1, COL1A1, CD79A, FGFR2
48serine458.0VDR, ABCA1, SRF, GH1, COL1A1, FGFR2
49dexamethasone45 51 29 1110.8VDR, ABCA1, AQP4, SRF, GH1, COL1A1
50retinoic acid45 248.4FGFR2, VDR, ABCA1, AQP4, SRF, GH1

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 canonical Wnt signaling pathwayGO:0902639.7FGFR2, COL1A1
2cellular response to retinoic acidGO:0713009.5COL1A1, ABCA1
3regulation of smooth muscle cell differentiationGO:0511509.2FGFR2, SRF
4skin morphogenesisGO:0435899.2COL1A1, SRF

Products for genes affiliated with Syringomyelia

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Sources for Syringomyelia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet