MCID: SYR001
MIFTS: 47

Syringomyelia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Syringomyelia

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Aliases & Descriptions for Syringomyelia:

Name: Syringomyelia 11 48 49 27 38 39 13 68

Classifications:



External Ids:

Disease Ontology11 DOID:327
MeSH39 D013595
NCIt45 C85179

Summaries for Syringomyelia

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NINDS:49 Syringomyelia (sear-IN-go-my-EEL-ya) is a disorder in which a fluid-filled cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, damaging the spinal cord. Since the spinal cord connects the brain to nerves in the extremities, this damage may cause pain, weakness, and stiffness in the back, shoulders, arms, or legs. Symptoms vary among individuals. Other symptoms may include headaches and a loss of the ability to feel extremes of hot or cold, especially in the hands. 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 malformation, which causes brain tissue to protrude from its normal location in the back of the head and into the cervical or neck portion of the spinal canal. Syringomyelia may also occur as a complication of trauma, inflammation, spinal cord injury, hemorrhage, spinal cord tumors, or other conditions. 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 idiopathic syringomyelia and secondary syringomyelia, and has symptoms including back pain, back pain and headache. An important gene associated with Syringomyelia is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include spinal cord, brain and skin, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

NIH Rare Diseases:48 Syringomyelia is a condition 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, inflammation of the tissue that surrounds the brain and spinal cord (meningitis) such as the inflammation of the arachnoides (arachnoiditis), hemorrhage, or a tumor. 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: 4/24/2017

MedlinePlus:38 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:71 Syringomyelia (/sᵻˌrɪŋɡəmaɪˈiːliə, -ɡoʊ-/) is a generic term... 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 140)
idRelated DiseaseScoreTop Affiliating Genes
1idiopathic syringomyelia12.0
2secondary syringomyelia12.0
3primary syringomyelia12.0
4familial syringomyelia11.9
5chiari malformation type i11.3
6hydromyelia11.2
7chiari malformation11.2
8myelomeningocele11.1
9neurocutaneous melanosis, somatic10.9
10chiari malformation type ii10.9
11syringohydromyelia10.9
12aminoacylase 1 deficiency10.7
13basilar impression, primary10.7
14tethered spinal cord syndrome10.7
15arachnoiditis10.3
16cervicitis10.2
17scoliosis10.2
18hydrocephalus10.2
19syringobulbia10.1
20arachnoid cysts10.1
21frontotemporal lobar degeneration with ubiquitin-positive inclusions10.1COL1A1, VDR
22spinal arachnoiditis10.0
23arthropathy10.0
24robinow syndrome10.0COL1A1, VDR
25meningitis9.9
26schwannoma of twelfth cranial nerve9.9AQP4, HSF4
27spondylosis9.9
28hemangioblastoma9.8
29ependymoma9.8
30medulloblastoma9.8
31tangier disease9.8
32idiopathic scoliosis9.8
33adolescent idiopathic scoliosis9.8
34tethered cord syndrome9.8
35tuberculous meningitis9.8
36diastematomyelia9.7
37spinal cord injury9.7
38peritonitis9.7
39hajdu-cheney syndrome9.7
40klippel-feil syndrome9.7
41respiratory failure9.7
42normal pressure hydrocephalus9.7
43ulnar neuropathy9.7
44cerebellopontine angle meningioma9.7
45neuropathy9.7
46glioma9.7
47foot drop9.7
48headache9.7
49adenoid hypertrophy9.7EDC3, LMAN2L, MAN1B1
50dandy-walker syndrome9.6

Graphical network of the top 20 diseases related to Syringomyelia:



Diseases related to syringomyelia

Symptoms & Phenotypes for Syringomyelia

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UMLS symptoms related to Syringomyelia:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

MGI Mouse Phenotypes related to Syringomyelia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1AQP4, COL1A1, FGFR2, VDR
2MP:00053819.0AQP4, COL1A1, FGFR2, NRAS, VDR

Drugs & Therapeutics for Syringomyelia

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Drugs for Syringomyelia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Hyaluronic acidapproved, vet_approvedPhase 44699004-61-953477741, 24759
Synonyms:
Hyaluronan
Hyaluronate
Hyaluronic acid
Hylartil
Hyruan Plus
Luronit
 
Macronan
Mucoitin
Nutra-HAF
Q 5AQ
Sepracoat
Sepragel Sinus
Sofast
Synvisc
2Adjuvants, ImmunologicPhase 42554
3ViscosupplementsPhase 4390
4Protective AgentsPhase 47443
5Immunoglobulins6394
6Antibodies6394
7Antibodies, Antiphospholipid29

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Platelet-rich Plasma vs. Hyaluronic Acid for Glenohumeral OsteoarthritisRecruitingNCT02984228Phase 4
2Efficacy Assessment of the Cell Therapy Medicine NC1 in Patients With Post-traumatic SyringomyeliaActive, not recruitingNCT02807142Phase 2
3Safety of Autologous Human Schwann Cells (ahSC) in Subjects With Subacute SCICompletedNCT01739023Phase 1
4Study and Surgical Treatment of SyringomyeliaCompletedNCT00011245
5Establishing the Physiology of SyringomyeliaCompletedNCT00001327
6Centralized Reading Assessment of Chronic CerebroSpinal Venous Insufficiency (CCSVI) in Patients With Multiple Sclerosis and Other Neurological DiseasesCompletedNCT02308579
7Characterization of At-risk Population for Pre-sacral Tumor in CURRARINO SyndromeCompletedNCT00780117
8A Prospective Natural History Study of Patients With SyringomyeliaRecruitingNCT01150708
9Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With SyringomyeliaRecruitingNCT02669836
10Genetic Analysis of the Chiari I MalformationRecruitingNCT00004738
11The Genetics of Chiari Type I MalformationActive, not recruitingNCT01060800
12Clinical Trial of a Serious Game for Individuals With SCI/DActive, not recruitingNCT02341950

Search NIH Clinical Center for Syringomyelia


Cochrane evidence based reviews: syringomyelia

Genetic Tests for Syringomyelia

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Genetic tests related to Syringomyelia:

id Genetic test Affiliating Genes
1 Syringomyelia27

Anatomical Context for Syringomyelia

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MalaCards organs/tissues related to Syringomyelia:

36
Spinal cord, Brain, Skin, Bone, Testes, Tonsil, Pineal

Publications for Syringomyelia

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Articles related to Syringomyelia:

(show top 50)    (show all 765)
idTitleAuthorsYear
1
Concurrent paediatric medulloblastoma and Chiari I malformation with syringomyelia. (28432427)
2017
2
Spinal cord stimulation combined with microsurgical DREZotomy for pain due to syringomyelia. (27080749)
2016
3
Entire syringomyelia associated with Chiari II malformation and severe scoliosis and hydrocephalus. (27858679)
2016
4
Bilateral vocal cord palsy causing stridor as the only symptom of syringomyelia and Chiari I malformation, a case report. (27315431)
2016
5
Spontaneous resolution of Chiari malformation and associated syringomyelia. (27841218)
2016
6
Inwardly rectifying potassium channel 4.1 expression in post-traumatic syringomyelia. (26768400)
2016
7
Early syringomyelia in tubercular meningitis: A rare occurrence. (27728436)
2016
8
Does Surgical Correction of Right Thoracic Scoliosis in Syringomyelia Produce Outcomes Similar to Those in Adolescent Idiopathic Scoliosis? (26888677)
2016
9
Dogs attending primary-care practice in England with clinical signs suggestive of Chiari-like malformation/syringomyelia. (27534983)
2016
10
Syringomyelia secondary to "occult" dorsal arachnoid webs: Report of two cases with review of literature. (27217656)
2016
11
A poroelastic fluid/structure-interaction model of cerebrospinal fluid dynamics in the cord with syringomyelia and adjacent subarachnoid-space stenosis. (27617710)
2016
12
Syringomyelia caused by an arachnoid web in a patient with shunted Dandy-Walker malformation. (27822765)
2016
13
Bilateral ulnar neuropathy at the elbow secondary to Charcot-joint associated with Chiari malformation and syringomyelia. (27625285)
2016
14
Surgical Management of Adult Reducible Atlantoaxial Dislocation, Basilar Invagination and Chiari Malformation with Syringomyelia. (27400111)
2016
15
Symptomatic Chiari Malformation with Syringomyelia after Severe Traumatic Brain Injury: Case Report. (27162930)
2016
16
Spinal Cord Transcriptomic and Metabolomic Analysis after Excitotoxic Injection Injury Model of Syringomyelia. (27736311)
2016
17
The changes of syrinx volume after posterior reduction and fixation of basilar invagination and atlantoaxial dislocation with syringomyelia. (27554349)
2016
18
Longitudinal Study of the Relationship among Craniocervical Morphology, Clinical Progression, and Syringomyelia in a Cohort of Cavalier King Charles Spaniels. (27311874)
2016
19
Effectiveness of Selective Thoracic Fusion in the Surgical Treatment of Syringomyelia-associated Scoliosis: A Case-control Study With Long-term Follow-up. (27398797)
2016
20
Longitudinal measurements of syrinx size in a rat model of posttraumatic syringomyelia. (26918577)
2016
21
Low intensity signal in T2-weighted MRI images around syringomyelia in a patient with severe scoliosis associated with Chiari malformation Type I. (26970598)
2016
22
Syringomyelia Caused by Traumatic Intracranial Hypotension: Case Report and Literature Review. (27126910)
2016
23
Idiopathic Versus Syrinx-Related Scoliosis: How Different Are They? Commentary on an article by Shifu Sha, PhD, et al.: "Does Surgical Correction of Right Thoracic Scoliosis in Syringomyelia Produce Outcomes Similar to Those in Adolescent Idiopathic Scoliosis?". (26888686)
2016
24
Inaugural hyperhidrosis revealing syringomyelia in a spinal cord injured men T10 AIS A. (27676770)
2016
25
Cerebellar and hindbrain motion in Chiari malformation with and without syringomyelia. (26722953)
2016
26
Direct-trauma model of posttraumatic syringomyelia with a computer-controlled motorized spinal cord impactor. (26824588)
2016
27
Poster 257 Tizanidine Reduces Night Sweats due to Dysautonomia in Syringomyelia: A Case Report. (27673012)
2016
28
Retrocerebellar arachnoid cyst resulting in syringomyelia in a patient without tonsillar herniation: successful surgical treatment with reconstruction of CSF flow in the foramen magnum region. (26728365)
2016
29
Magnetic resonance imaging-based measures of atlas position: Relationship to canine atlantooccipital overlapping, syringomyelia and clinical signs. (26857868)
2016
30
Inheritance of Chiari-Like Malformation: Can a Mixed Breeding Reduce the Risk of Syringomyelia? (27008271)
2016
31
Syringomyelia presenting as type 2 respiratory failure. (27728638)
2016
32
Co-existing spinal intradural ependymal cyst and sacral Tarlov cyst in adult-onset tethered cord syndrome with syringomyelia: Case report and literature review. (27843691)
2016
33
Response to "Syringomyelia secondary to 'occult' dorsal arachnoid webs: Report of two cases with review of literature" by Sayal et al. (27630482)
2016
34
Acquired Chiari Malformation and Syringomyelia Secondary to Space-Occupying Lesions: A Systematic Review. (27894943)
2016
35
Cervical spinal canal narrowing in idiopathic syringomyelia. (27194170)
2016
36
Syringomyelia in Hereditary Multiple Exostosis. (27480811)
2016
37
Morphometric features of posterior cranial fossa are different between Chiari I malformation with and without syringomyelia. (26821142)
2016
38
A challenging diagnosis of late-onset tumefactive multiple sclerosis associated to cervicodorsal syringomyelia: doubtful CT, MRI, and bioptic findings: Case report and literature review. (27603348)
2016
39
Update on the pathophysiology and management of syringomyelia unrelated to Chiari malformation. (27939111)
2016
40
Myotonic Dystrophy Type 1 with Syringomyelia in a Young Patient. (26879026)
2016
41
Visualization of cerebrospinal fluid flow in syringomyelia through noninvasive magnetic resonance imaging with a time-spatial labeling inversion pulse (Time-SLIP). (26864698)
2016
42
Pulse wave myelopathy: An update of an hypothesis highlighting the similarities between syringomyelia and normal pressure hydrocephalus. (26362731)
2015
43
Surgical management of syringomyelia unrelated to Chiari malformation or spinal cord injury. (26441259)
2015
44
Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia and horse-shoe kidney. (26482981)
2015
45
Intractable hiccups caused by syringobulbia and syringomyelia associated with intramedullary spinal hemangioblastoma. (25716660)
2015
46
Conus medullaris ganglioneuroma with syringomyelia radiologically mimicking ependymoma: A case report. (26788212)
2015
47
Clinical-radiological improvement following low-tech surgical treatment of an extensive cervical-medullary idiopathic syringomyelia in a low-resource African neurosurgical practice. (25697142)
2015
48
Chiari malformation type I with cervicothoracic syringomyelia masquerading as bibrachial amyotrophy: a case report. (25622641)
2015
49
Association between the findings on magnetic resonance imaging screening for syringomyelia in asymptomatic Cavalier King Charles spaniels and observation of clinical signs consistent with syringomyelia in later life. (25475164)
2015
50
Comparison of the scoliosis curve patterns and MRI syrinx cord characteristics of idiopathic syringomyelia versus Chiari I malformation. (26162920)
2015

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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GO Terms for genes affiliated with Syringomyelia

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Cellular components related to Syringomyelia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Golgi apparatusGO:00057948.0COL1A1, FGFR2, LMAN2L, MAN1B1, NRAS

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

idNameGO IDScoreTop Affiliating Genes
1skeletal system morphogenesisGO:00487059.9COL1A1, FGFR2

Sources for Syringomyelia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet