MCID: SYR001
MIFTS: 49

Syringomyelia malady

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

Aliases & Classifications for Syringomyelia

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Summaries for Syringomyelia

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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

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:43 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:64 Syringomyelia /s??r????ma??i?li?/ is a generic term referring to a disorder in which a cyst or cavity... more...

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
1penicillin4410.2CD79A, ACY1
2apai4410.0COL1A1, VDR
3xbai449.9VDR, COL1A1
4glycerol44 24 1111.7CD79A, GH1, AQP4
5salbutamol44 50 28 24 1113.7GH1, CD79A
6azithromycin44 1110.7CD79A, SRF
7pilocarpine44 28 1111.7SRF, CD79A
8deoxypyridinoline449.6GH1, VDR
9tacrolimus44 50 1111.6ABCA1, VDR, CD79A
10aspirin44 50 28 2412.6VDR, ABCA1, CD79A
11thyroxine44 2410.5CD79A, VDR, GH1
12n acetylcysteine449.5FGFR2, CD79A, ACY1
131,25 dihydroxy vitamin d3449.5VDR, GH1, COL1A1
14epinephrine44 24 1111.5GH1, CD79A, FGFR2
15alendronate44 50 1111.4VDR, GH1
16carnitine449.4CD79A, SRF, ABCA1
17ribonucleic acid449.4COL1A1, GH1, FGFR2
18chloramphenicol44 1 50 1112.4GH1, COL1A1, VDR
19okt3449.3CD79A, SRF
20suramin44 28 1111.3CD79A, FGFR2, SRF
21glycosaminoglycan449.3FGFR2, SRF, COL1A1
22agar449.2SRF, CD79A, FGFR2
23methotrexate50 44 1111.2GH1, CD79A, SRF
24steroid449.1GH1, FGFR2, CD79A, VDR
255fluorouracil449.0FGFR2, SRF, VDR
26retinoid448.9SRF, GH1, VDR
27cyclosporin a44 28 6010.9CD79A, SRF, ABCA1, VDR
28heparin44 28 24 1111.8SRF, FGFR2, GH1, CD79A
29vitamin d448.8GH1, CD79A, COL1A1, VDR, FGFR2
30pge2448.8SRF, VDR, COL1A1, CD79A
31progesterone44 28 60 24 1112.8SRF, GH1, ABCA1, FGFR2
32tamoxifen44 50 28 1111.8FGFR2, GH1, VDR
33dihydrotestosterone44 28 24 1111.8VDR, CD79A, GH1, SRF
34creatinine448.7VDR, CD79A, GH1, SRF
35cycloheximide448.7GH1, VDR, SRF, ABCA1
36guanine44 24 1110.7FGFR2, GH1, SRF, VDR
37zinc44 249.7COL1A1, GH1, SRF, ABCA1
38cysteine448.5GH1, COL1A1, AQP4, VDR, FGFR2, CD79A
39vegf448.5CD79A, SRF, GH1, COL1A1, FGFR2
40alanine448.4GH1, VDR, CD79A, SRF, COL1A1
41genistein44 28 60 1 24 1113.4FGFR2, SRF, VDR, GH1, ABCA1
42thymidine44 249.3GH1, SRF, VDR, FGFR2, COL1A1
43oligonucleotide448.2COL1A1, GH1, FGFR2, SRF, AQP4, ABCA1
44glutamate448.2AQP4, ABCA1, VDR, SRF, CD79A, FGFR2
45testosterone44 60 24 1111.0CD79A, ABCA1, SRF, VDR, GH1, FGFR2
46arginine448.0COL1A1, CD79A, SRF, FGFR2, GH1, VDR
47estrogen448.0SRF, COL1A1, CD79A, FGFR2, GH1, VDR
48serine448.0VDR, ABCA1, SRF, GH1, COL1A1, FGFR2
49dexamethasone44 50 28 1110.8AQP4, VDR, CD79A, COL1A1, ABCA1, GH1
50retinoic acid44 248.4VDR, GH1, FGFR2, SRF, AQP4, ABCA1

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

Sources for Syringomyelia

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet