MCID: SYR001
MIFTS: 55

Syringomyelia malady

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

Summaries for Syringomyelia

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NINDS:43 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 based summary: Syringomyelia 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: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

MedlinePlus:33 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 /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 42 43 11 33 61


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
NCIt39 C85179
MeSH34 D013595

Related Diseases for Syringomyelia

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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 154)
idRelated DiseaseScoreTop Affiliating Genes
1multiple sclerosis30.4SRF, AQP4, VDR
2ankylosing spondylitis30.2CD79A, SRF
3tuberculosis29.9VDR, SRF, CD79A
4chiari malformation10.8
5arachnoiditis10.8
6cervicitis10.7
7hydrocephalus10.6
8syringobulbia10.6
9arachnoid cysts10.5
10idiopathic syringomyelia10.5
11arthropathy10.5
12infectious mononucleosis10.4CD79A
13familial syringomyelia10.4
14scott syndrome10.4ABCA1
15secondary syringomyelia10.4
16dentinogenesis imperfecta10.4COL1A1
17beare-stevenson cutis gyrata syndrome10.4FGFR2
18meningitis10.4
19hydromyelia10.4
20meningioma10.3
21spondylosis10.3
22primary syringomyelia10.3
23tangier disease10.2
24hemangioblastoma10.2
25ependymoma10.2
26tuberculous meningitis10.2
27prostatitis10.2VDR, CD79A
28medulloblastoma10.2
29peritonitis10.2
30chiari malformation type 110.2
31myelomeningocele10.2
32lumbar disc disease10.2VDR, COL1A1
33berger disease10.2CD79A, SRF
34osteoporosis, postmenopausal10.1COL1A1, VDR
35non-suppurative otitis media10.1VDR, SRF
36spinal cord injury10.1
37hajdu-cheney syndrome10.1
38cerebellopontine angle meningioma10.1
39klippel-feil syndrome10.1
40congenital muscular dystrophy syringomyelia10.1
41foot drop10.1
42headache10.1
43parathyroid adenoma10.1FGFR2, VDR
44hypercalcemia10.1SRF, VDR
45chronic kidney failure10.0CD79A, SRF, VDR
46idiopathic juvenile osteoporosis10.0COL1A1, GH1
47spina bifida10.0
48spinal stenosis10.0
49dandy-walker syndrome10.0
50spondylolysis10.0

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:

32
Spinal cord, Brain, Cerebellum, Bone, Skin, Testes, 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 690)
idTitleAuthorsYear
1
Syringomyelia: a practical, clinical concept for classification. (25236931)
2014
2
Two siblings with neuropathic scoliosis caused by Chiari malformation type I with syringomyelia. (24379017)
2014
3
Charcot arthropathy of the elbow joint as a presenting feature of Chiari malformation with syringomyelia. (25076017)
2014
4
Syringomyelia associated with spinal arachnoiditis treated by partial arachnoid dissection and syrinx-far distal subarachnoid shunt. (25232285)
2014
5
Preserved sensory-motor function despite large-scale morphological alterations in a series of patients with holocord syringomyelia. (25219978)
2014
6
Chiari-like malformation and syringomyelia in American Brussels Griffon dogs. (25145262)
2014
7
Six-year follow-up of a case series with non-communicating syringomyelia in multiple sclerosis. (23252517)
2013
8
Spinal syringomyelia following subarachnoid hemorrhage. (22285478)
2012
9
Anesthetic management during Cesarean section in a woman with residual Arnold-Chiari malformation Type I, cervical kyphosis, and syringomyelia. (22439117)
2012
10
Spontaneous regression of syringomyelia in a young patient with Chiari type I malformation. (24029095)
2012
11
Syringo-subarachnoid-peritoneal shunt using T-tube for treatment of post-traumatic syringomyelia. (22993681)
2012
12
The first descriptions of syringomyelia. (22843644)
2012
13
Syringomyelia associated with arachnoid septum at the craniovertebral junction, contradicting the currently prevailing theory of syringomyelia formation. (22052474)
2012
14
Charcot knee secondary to lumbar spinal cord syringomyelia: complication of spinal anesthesia. (22647866)
2012
15
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
16
Difficult intubation in a parturient with syringomyelia and Arnold-Chiari malformation: Use of Airtraq laryngoscope. (22144932)
2011
17
CSF Flow in Chiari I and Syringomyelia from the Perspective of Computational Fluid Dynamics. (24059568)
2011
18
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
19
Relationship of brain parenchyma within the caudal cranial fossa and ventricle size to syringomyelia in cavalier King Charles spaniels. (20536691)
2010
20
Spinal subarachnoid space pressure measurements in an in vitro spinal stenosis model: implications on syringomyelia theories. (21034148)
2010
21
Bilateral brachial plexus palsy and right Horner syndrome due to congenital cervicothoracal syringomyelia. (19765926)
2010
22
Syringomyelia with quadriparesis in CSF shunt malfunction: a case illustration. (20445982)
2010
23
Conus ependymoma with holocord syringomyelia. (19587487)
2009
24
Syringopleural shunt as a rescue procedure in patients with syringomyelia refractory to restoration of cerebrospinal fluid flow. (19687691)
2009
25
Spontaneous regression of syringomyelia--review of the current aetiological theories and implications for surgery. (18710806)
2008
26
Syringomyelia-associated scoliosis with and without the Chiari I malformation. (18611998)
2008
27
Interstitial spinal-cord oedema in syringomyelia associated with Chiari type 1 malformations. (18403441)
2008
28
Reversible tonsillar prolapse and syringomyelia after embolization of a tectal arteriovenous malformation. Case report and review of the literature. (17695398)
2007
29
Regression of syringomyelia and tonsillar herniation after posterior fossa arachnoid cyst excision. Case report and literature review. (17622461)
2007
30
Spontaneous regression of lipomyelomeningocele associated with terminal syringomyelia in a child. Case report. (17918535)
2007
31
Syringomyelia with syringobulbia. (18405132)
2007
32
Hindbrain-hernia-related syringomyelia without syringobulbia, complicated by permanent nocturnal central hypoventilation requiring non-invasive ventilation. (16184409)
2006
33
Scoliosis in a child with Chiari I malformation and the absence of syringomyelia: case report and a review of the literature. (16532361)
2006
34
Syringomyelia: an early complication of tuberculous meningitis. (17034715)
2006
35
Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature. (15821947)
2005
36
Syringomyelia with Chiari malformation; 3 unusual cases with implications for pathogenesis. (15744850)
2004
37
Syringomyelia caused by cervical spondylosis. (14963752)
2004
38
Vertebral malformation, syringomyelia, and ventricular septal defect in a dromedary camel (Camelius dromedarius). (15305748)
2004
39
Effects of surgery on the sensory deficits of syringomyelia and predictors of outcome: a long term prospective study. (15201364)
2004
40
Persistent syringomyelia following pediatric Chiari I decompression: radiological and surgical findings. (15287455)
2004
41
Hiccups attributable to syringobulbia and/or syringomyelia associated with a Chiari I malformation: case report. (14683562)
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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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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Compounds for genes affiliated with Syringomyelia

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Compounds related to Syringomyelia according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1penicillin4410.2ACY1, CD79A
2apai4410.0COL1A1, VDR
3xbai449.9VDR, COL1A1
4glycerol44 25 1211.7CD79A, GH1, AQP4
5salbutamol44 50 29 25 1213.7CD79A, GH1
6azithromycin44 1210.7SRF, CD79A
7pilocarpine44 29 1211.7SRF, CD79A
8deoxypyridinoline449.6GH1, VDR
9tacrolimus44 50 1211.6CD79A, ABCA1, VDR
10aspirin44 50 29 2512.6VDR, ABCA1, CD79A
11thyroxine44 2510.5CD79A, GH1, VDR
12n acetylcysteine449.5ACY1, CD79A, FGFR2
131,25 dihydroxy vitamin d3449.5COL1A1, GH1, VDR
14epinephrine44 25 1211.5GH1, CD79A, FGFR2
15alendronate44 50 1211.4GH1, VDR
16carnitine449.4ABCA1, SRF, CD79A
17ribonucleic acid449.4GH1, COL1A1, FGFR2
18chloramphenicol44 3 50 1212.4VDR, GH1, COL1A1
19okt3449.3CD79A, SRF
20suramin44 29 1211.3FGFR2, CD79A, SRF
21glycosaminoglycan449.3SRF, COL1A1, FGFR2
22agar449.2FGFR2, CD79A, SRF
23methotrexate50 44 1211.2CD79A, GH1, SRF
24steroid449.1FGFR2, CD79A, GH1, VDR
255fluorouracil449.0VDR, SRF, FGFR2
26retinoid448.9GH1, SRF, VDR
27cyclosporin a44 29 6010.9VDR, ABCA1, SRF, CD79A
28heparin44 29 25 1211.8SRF, GH1, CD79A, FGFR2
29vitamin d448.8VDR, GH1, COL1A1, CD79A, FGFR2
30pge2448.8VDR, SRF, COL1A1, CD79A
31progesterone44 29 60 25 1212.8FGFR2, GH1, SRF, ABCA1
32tamoxifen44 50 29 1211.8VDR, GH1, FGFR2
33dihydrotestosterone44 29 25 1211.8CD79A, GH1, SRF, VDR
34creatinine448.7CD79A, GH1, SRF, VDR
35cycloheximide448.7VDR, ABCA1, SRF, GH1
36guanine44 25 1210.7VDR, SRF, GH1, FGFR2
37zinc44 259.7COL1A1, GH1, SRF, ABCA1
38cysteine448.5VDR, AQP4, GH1, COL1A1, CD79A, FGFR2
39vegf448.5FGFR2, CD79A, COL1A1, GH1, SRF
40alanine448.4VDR, SRF, GH1, COL1A1, CD79A
41genistein44 29 60 3 25 1213.4VDR, ABCA1, SRF, GH1, FGFR2
42thymidine44 259.3VDR, SRF, GH1, COL1A1, FGFR2
43oligonucleotide448.2ABCA1, AQP4, SRF, GH1, COL1A1, FGFR2
44glutamate448.2VDR, ABCA1, AQP4, SRF, CD79A, FGFR2
45testosterone44 60 25 1211.0VDR, ABCA1, SRF, GH1, CD79A, FGFR2
46arginine448.0VDR, SRF, GH1, COL1A1, CD79A, FGFR2
47estrogen448.0VDR, SRF, GH1, COL1A1, CD79A, FGFR2
48serine448.0VDR, ABCA1, SRF, GH1, COL1A1, FGFR2
49dexamethasone44 50 29 1210.8VDR, ABCA1, AQP4, SRF, GH1, COL1A1
50retinoic acid44 258.4FGFR2, VDR, ABCA1, AQP4, SRF, GH1

GO Terms for genes affiliated with Syringomyelia

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Biological processes related to Syringomyelia according to GeneCards/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
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26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
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57SNOMED-CT via Orphanet
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62UMLS via Orphanet