MCID: SYR001
MIFTS: 49

Syringomyelia malady

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

Summaries for Syringomyelia

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NIH Rare Diseases:41 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

MalaCards based summary: Syringomyelia, also known as hydromyelia, is related to tuberculosis and chiari malformation. 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 bone, and related mouse phenotypes are hearing/vestibular/ear and liver/biliary system.

MedlinePlus:32 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.

NINDS:42 Hydromyelia refers to an abnormal widening of the central canal of the spinal cord that creates a cavity in which cerebrospinal fluid (commonly known as spinal fluid) can accumulate.

Wikipedia:63 Syringomyelia /s??r????ma??i?li?/ is a generic term referring to a disorder in which a cyst or cavity... more...

Aliases & Classifications for Syringomyelia

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Syringomyelia, Aliases & Descriptions:

Name: Syringomyelia 9 41 42 11 32 60
 
Hydromyelia 41 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


External Ids:

Disease Ontology9 DOID:327
MeSH33 D013595
NCIt38 C85179
ICD1025 Q06.4

Related Diseases for Syringomyelia

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Diseases in the Syringomyelia family:

Familial Syringomyelia Secondary Syringomyelia
Primary Syringomyelia

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

(show top 50)    (show all 158)
idRelated DiseaseScoreTop Affiliating Genes
1tuberculosis29.8CD79A, SRF, VDR
2chiari malformation10.8
3arachnoiditis10.8
4cervicitis10.7
5scoliosis10.6
6hydrocephalus10.6
7syringobulbia10.6
8arachnoid cysts10.5
9idiopathic syringomyelia10.5
10arthropathy10.5
11pfeiffer syndrome10.4CD79A
12familial syringomyelia10.4
13scott syndrome10.4ABCA1
14secondary syringomyelia10.4
15dentinogenesis imperfecta10.4COL1A1
16beare-stevenson cutis gyrata syndrome10.4FGFR2
17meningitis10.4
18spondylosis10.3
19primary syringomyelia10.3
20syringohydromyelia10.3
21tangier disease10.2
22hemangioblastoma10.2
23ependymoma10.2
24tuberculous meningitis10.2
25spondyloarthropathy 110.2CD79A, SRF
26prostatitis10.2CD79A, VDR
27medulloblastoma10.2
28peritonitis10.2
29congenital muscular dystrophy syringomyelia10.2
30myelomeningocele10.2
31intervertebral disc disease10.2COL1A1, VDR
32iga glomerulonephritis10.1SRF, CD79A
33hajdu-cheney syndrome10.1
34neurocutaneous melanosis, somatic10.1
35spinal cord injury10.1
36klippel-feil syndrome10.1
37cerebellopontine angle meningioma10.1
38chiari malformation type 110.1
39foot drop10.1
40headache10.1
41osteoporosis10.1COL1A1, VDR
42non-suppurative otitis media10.1VDR, SRF
43parathyroid adenoma10.1VDR, FGFR2
44hypercalcemia10.1VDR, SRF
45chronic kidney failure10.0SRF, CD79A, VDR
46idiopathic juvenile osteoporosis10.0COL1A1, GH1
47dandy-walker syndrome10.0
48cleidocranial dysplasia10.0
49pityriasis rubra pilaris10.0
50neurofibromatosis, type 110.0

Graphical network of the top 20 diseases related to Syringomyelia:



Diseases related to syringomyelia

Symptoms for Syringomyelia

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Drugs & Therapeutics for Syringomyelia

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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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MalaCards organs/tissues related to Syringomyelia:

31
Spinal cord, Brain, Bone, Skin, Testes, Cerebellum, Liver, Tonsil, Dorsal root ganglion, Pineal, Bone marrow

Animal Models for Syringomyelia or affiliated genes

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Publications for Syringomyelia

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Articles related to Syringomyelia:

(show top 50)    (show all 709)
idTitleAuthorsYear
1
The roads to mitochondrial dysfunction in a rat model of posttraumatic syringomyelia. (25685811)
2015
2
C-5 palsy after cerebrospinal fluid diversion in posttraumatic syringomyelia: case report. (25658467)
2015
3
Syringomyelia: a practical, clinical concept for classification. (25236931)
2014
4
Two siblings with neuropathic scoliosis caused by Chiari malformation type I with syringomyelia. (24379017)
2014
5
Charcot arthropathy of the elbow joint as a presenting feature of Chiari malformation with syringomyelia. (25076017)
2014
6
Syringomyelia associated with spinal arachnoiditis treated by partial arachnoid dissection and syrinx-far distal subarachnoid shunt. (25232285)
2014
7
Preserved sensory-motor function despite large-scale morphological alterations in a series of patients with holocord syringomyelia. (25219978)
2014
8
Chiari-like malformation and syringomyelia in American Brussels Griffon dogs. (25145262)
2014
9
Syringomyelia associated with Paget disease of the skull. (23438664)
2013
10
Spinal syringomyelia following subarachnoid hemorrhage. (22285478)
2012
11
Anesthetic management during Cesarean section in a woman with residual Arnold-Chiari malformation Type I, cervical kyphosis, and syringomyelia. (22439117)
2012
12
Spontaneous regression of syringomyelia in a young patient with Chiari type I malformation. (24029095)
2012
13
Syringo-subarachnoid-peritoneal shunt using T-tube for treatment of post-traumatic syringomyelia. (22993681)
2012
14
The first descriptions of syringomyelia. (22843644)
2012
15
Syringomyelia associated with arachnoid septum at the craniovertebral junction, contradicting the currently prevailing theory of syringomyelia formation. (22052474)
2012
16
Charcot knee secondary to lumbar spinal cord syringomyelia: complication of spinal anesthesia. (22647866)
2012
17
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
18
Difficult intubation in a parturient with syringomyelia and Arnold-Chiari malformation: Use of Airtraq laryngoscope. (22144932)
2011
19
CSF Flow in Chiari I and Syringomyelia from the Perspective of Computational Fluid Dynamics. (24059568)
2011
20
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
21
Relationship of brain parenchyma within the caudal cranial fossa and ventricle size to syringomyelia in cavalier King Charles spaniels. (20536691)
2010
22
Spinal subarachnoid space pressure measurements in an in vitro spinal stenosis model: implications on syringomyelia theories. (21034148)
2010
23
Bilateral brachial plexus palsy and right Horner syndrome due to congenital cervicothoracal syringomyelia. (19765926)
2010
24
Conus ependymoma with holocord syringomyelia. (19587487)
2009
25
Syringopleural shunt as a rescue procedure in patients with syringomyelia refractory to restoration of cerebrospinal fluid flow. (19687691)
2009
26
Spontaneous regression of syringomyelia--review of the current aetiological theories and implications for surgery. (18710806)
2008
27
Syringomyelia-associated scoliosis with and without the Chiari I malformation. (18611998)
2008
28
Interstitial spinal-cord oedema in syringomyelia associated with Chiari type 1 malformations. (18403441)
2008
29
Reversible tonsillar prolapse and syringomyelia after embolization of a tectal arteriovenous malformation. Case report and review of the literature. (17695398)
2007
30
Regression of syringomyelia and tonsillar herniation after posterior fossa arachnoid cyst excision. Case report and literature review. (17622461)
2007
31
Spontaneous regression of lipomyelomeningocele associated with terminal syringomyelia in a child. Case report. (17918535)
2007
32
Syringomyelia with syringobulbia. (18405132)
2007
33
Hindbrain-hernia-related syringomyelia without syringobulbia, complicated by permanent nocturnal central hypoventilation requiring non-invasive ventilation. (16184409)
2006
34
Scoliosis in a child with Chiari I malformation and the absence of syringomyelia: case report and a review of the literature. (16532361)
2006
35
Syringomyelia: an early complication of tuberculous meningitis. (17034715)
2006
36
Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature. (15821947)
2005
37
Syringomyelia with Chiari malformation; 3 unusual cases with implications for pathogenesis. (15744850)
2004
38
Syringomyelia caused by cervical spondylosis. (14963752)
2004
39
Vertebral malformation, syringomyelia, and ventricular septal defect in a dromedary camel (Camelius dromedarius). (15305748)
2004
40
Effects of surgery on the sensory deficits of syringomyelia and predictors of outcome: a long term prospective study. (15201364)
2004
41
Persistent syringomyelia following pediatric Chiari I decompression: radiological and surgical findings. (15287455)
2004
42
Hiccups attributable to syringobulbia and/or syringomyelia associated with a Chiari I malformation: case report. (14683562)
2004
43
Syringomyelia associated with foramen magnum arachnoiditis. (12408385)
2002
44
Treatment of Chiari I malformation in patients with and without syringomyelia: a consecutive series of 66 cases. (16724813)
2001
45
Post-traumatic syringomyelia following complete neurological recovery. (11035481)
2000
46
Spontaneous resolution of idiopathic syringomyelia: MR features. (1545037)
1992
47
Pathogenesis and treatment of delayed post-traumatic syringomyelia. (1882724)
1991
48
Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease. (1802966)
1991
49
Progressive late post-traumatic syringomyelia. (7220072)
1981
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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Search GEO for disease gene expression data for Syringomyelia.

Pathways for genes affiliated with Syringomyelia

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Compounds for genes affiliated with Syringomyelia

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Compounds related to Syringomyelia according to GeneCards Suite gene sharing:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1penicillin4310.2ACY1, CD79A
2apai4310.0COL1A1, VDR
3xbai439.9VDR, COL1A1
4glycerol43 24 1211.7CD79A, GH1, AQP4
5salbutamol43 49 28 24 1213.7CD79A, GH1
6azithromycin43 1210.7SRF, CD79A
7pilocarpine43 28 1211.7SRF, CD79A
8deoxypyridinoline439.6GH1, VDR
9tacrolimus43 49 1211.6CD79A, ABCA1, VDR
10aspirin43 49 28 2412.6VDR, ABCA1, CD79A
11thyroxine43 2410.5CD79A, GH1, VDR
12n acetylcysteine439.5ACY1, CD79A, FGFR2
131,25 dihydroxy vitamin d3439.5COL1A1, GH1, VDR
14epinephrine43 24 1211.5GH1, CD79A, FGFR2
15alendronate43 49 1211.4GH1, VDR
16carnitine439.4ABCA1, SRF, CD79A
17ribonucleic acid439.4GH1, COL1A1, FGFR2
18chloramphenicol43 2 49 1212.4VDR, GH1, COL1A1
19okt3439.3CD79A, SRF
20suramin43 28 1211.3FGFR2, CD79A, SRF
21glycosaminoglycan439.3SRF, COL1A1, FGFR2
22agar439.2FGFR2, CD79A, SRF
23methotrexate49 43 1211.2CD79A, GH1, SRF
24steroid439.1FGFR2, CD79A, GH1, VDR
255fluorouracil439.0VDR, SRF, FGFR2
26retinoid438.9GH1, SRF, VDR
27cyclosporin a43 28 5910.9VDR, ABCA1, SRF, CD79A
28heparin43 28 24 1211.8SRF, GH1, CD79A, FGFR2
29vitamin d438.8VDR, GH1, COL1A1, CD79A, FGFR2
30pge2438.8VDR, SRF, COL1A1, CD79A
31progesterone43 28 59 24 1212.8FGFR2, GH1, SRF, ABCA1
32tamoxifen43 49 28 1211.8VDR, GH1, FGFR2
33dihydrotestosterone43 28 24 1211.8CD79A, GH1, SRF, VDR
34creatinine438.7CD79A, GH1, SRF, VDR
35cycloheximide438.7VDR, ABCA1, SRF, GH1
36guanine43 24 1210.7VDR, SRF, GH1, FGFR2
37zinc43 249.7COL1A1, GH1, SRF, ABCA1
38cysteine438.5VDR, AQP4, GH1, COL1A1, CD79A, FGFR2
39vegf438.5FGFR2, CD79A, COL1A1, GH1, SRF
40alanine438.4VDR, SRF, GH1, COL1A1, CD79A
41genistein43 28 59 2 24 1213.4VDR, ABCA1, SRF, GH1, FGFR2
42thymidine43 249.3VDR, SRF, GH1, COL1A1, FGFR2
43oligonucleotide438.2ABCA1, AQP4, SRF, GH1, COL1A1, FGFR2
44glutamate438.2VDR, ABCA1, AQP4, SRF, CD79A, FGFR2
45testosterone43 59 24 1211.0VDR, ABCA1, SRF, GH1, CD79A, FGFR2
46arginine438.0VDR, SRF, GH1, COL1A1, CD79A, FGFR2
47estrogen438.0VDR, SRF, GH1, COL1A1, CD79A, FGFR2
48serine438.0VDR, ABCA1, SRF, GH1, COL1A1, FGFR2
49dexamethasone43 49 28 1210.8VDR, ABCA1, AQP4, SRF, GH1, COL1A1
50retinoic acid43 248.4FGFR2, VDR, ABCA1, AQP4, SRF, GH1

GO Terms for genes affiliated with Syringomyelia

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Biological processes related to Syringomyelia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of canonical Wnt signaling pathwayGO:00902639.7FGFR2, COL1A1
2cellular response to retinoic acidGO:00713009.5COL1A1, ABCA1
3regulation of smooth muscle cell differentiationGO:00511509.2FGFR2, SRF
4skin morphogenesisGO:00435899.2COL1A1, SRF

Products for genes affiliated with Syringomyelia

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Sources for Syringomyelia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet