MCID: SYR001
MIFTS: 60

Syringomyelia malady

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

Summaries for Syringomyelia

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44NIH Rare Diseases, 35MedlinePlus, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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NINDS:45 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:44 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:66 Syringomyelia /s??r????ma??i?li?/ is a generic term referring to a disorder in which a cyst or cavity... more...

Description from OMIM:48 186700

Aliases & Classifications for Syringomyelia

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9Disease Ontology, 44NIH Rare Diseases, 45NINDS, 11DISEASES, 50Orphanet, 48OMIM, 35MedlinePlus, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
syringomyelia:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

syringomyelia 9 44 45 11 50 48 35 63
hydromyelia 50


External Ids:

Disease Ontology9 DOID:327
NCIt41 C85179
MeSH36 D013595
OMIM48 186700
MESH via Orphanet37 D013595
ICD10 via Orphanet27 G95.0
SNOMED-CT via Orphanet60 111496009
UMLS via Orphanet64 C0039144

Related Diseases for Syringomyelia

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Sources:
18GeneCards, 19GeneDecks
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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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48OMIM
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Symptoms by clinical synopsis from OMIM:

186700

Clinical features from OMIM:

186700

Drugs & Therapeutics for Syringomyelia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Syringomyelia:

34
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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38MGI
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Publications for Syringomyelia

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53PubMed
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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, 16Gene 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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51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 31KEGG, 54QIAGEN
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Compounds for genes affiliated with Syringomyelia

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46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 30IUPHAR, 3BitterDB, 62Tocris Bioscience
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Compounds related to Syringomyelia according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1penicillin4610.2ACY1, CD79A
2apai4610.0COL1A1, VDR
3xbai469.9VDR, COL1A1
4glycerol46 25 1211.7CD79A, GH1, AQP4
5salbutamol46 52 30 25 1213.7CD79A, GH1
6azithromycin46 1210.7SRF, CD79A
7pilocarpine46 30 1211.7SRF, CD79A
8deoxypyridinoline469.6GH1, VDR
9tacrolimus46 52 1211.6CD79A, ABCA1, VDR
10aspirin46 52 30 2512.6VDR, ABCA1, CD79A
11thyroxine46 2510.5CD79A, GH1, VDR
12n acetylcysteine469.5ACY1, CD79A, FGFR2
131,25 dihydroxy vitamin d3469.5COL1A1, GH1, VDR
14epinephrine46 25 1211.5GH1, CD79A, FGFR2
15alendronate46 52 1211.4GH1, VDR
16carnitine469.4ABCA1, SRF, CD79A
17ribonucleic acid469.4GH1, COL1A1, FGFR2
18chloramphenicol46 3 52 1212.4VDR, GH1, COL1A1
19okt3469.3CD79A, SRF
20suramin46 30 1211.3FGFR2, CD79A, SRF
21glycosaminoglycan469.3SRF, COL1A1, FGFR2
22agar469.2FGFR2, CD79A, SRF
23methotrexate52 46 1211.2CD79A, GH1, SRF
24steroid469.1FGFR2, CD79A, GH1, VDR
255fluorouracil469.0VDR, SRF, FGFR2
26retinoid468.9GH1, SRF, VDR
27cyclosporin a46 30 6210.9VDR, ABCA1, SRF, CD79A
28heparin46 30 25 1211.8SRF, GH1, CD79A, FGFR2
29vitamin d468.8VDR, GH1, COL1A1, CD79A, FGFR2
30pge2468.8VDR, SRF, COL1A1, CD79A
31progesterone46 30 62 25 1212.8FGFR2, GH1, SRF, ABCA1
32tamoxifen46 52 30 1211.8VDR, GH1, FGFR2
33dihydrotestosterone46 30 25 1211.8CD79A, GH1, SRF, VDR
34creatinine468.7CD79A, GH1, SRF, VDR
35cycloheximide468.7VDR, ABCA1, SRF, GH1
36guanine46 25 1210.7VDR, SRF, GH1, FGFR2
37zinc46 259.7COL1A1, GH1, SRF, ABCA1
38cysteine468.5VDR, AQP4, GH1, COL1A1, CD79A, FGFR2
39vegf468.5FGFR2, CD79A, COL1A1, GH1, SRF
40alanine468.4VDR, SRF, GH1, COL1A1, CD79A
41genistein46 30 62 3 25 1213.4VDR, ABCA1, SRF, GH1, FGFR2
42thymidine46 259.3VDR, SRF, GH1, COL1A1, FGFR2
43oligonucleotide468.2ABCA1, AQP4, SRF, GH1, COL1A1, FGFR2
44glutamate468.2VDR, ABCA1, AQP4, SRF, CD79A, FGFR2
45testosterone46 62 25 1211.0VDR, ABCA1, SRF, GH1, CD79A, FGFR2
46arginine468.0VDR, SRF, GH1, COL1A1, CD79A, FGFR2
47estrogen468.0VDR, SRF, GH1, COL1A1, CD79A, FGFR2
48serine468.0VDR, ABCA1, SRF, GH1, COL1A1, FGFR2
49dexamethasone46 52 30 1210.8VDR, ABCA1, AQP4, SRF, GH1, COL1A1
50retinoic acid46 258.4FGFR2, VDR, ABCA1, AQP4, SRF, GH1

GO Terms for genes affiliated with Syringomyelia

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet