MCID: SYR001
MIFTS: 47

Syringomyelia malady

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

Aliases & Classifications for Syringomyelia

About this section

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

About this section
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, 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. 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 I malformation. This malformation causes the lower part of the cerebellum to protrude from its normal location in the back of the head, through the hole connecting the skull and spine, and into the cervical or neck portion of the spinal canal. Syringomyelia may also occur as a complication of trauma, meningitis, hemorrhage, a tumor, or other condition. 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, headache and pain. An important gene associated with Syringomyelia is ACY1 (Aminoacylase 1), and among its related pathways are Vemurafenib Pathway, Pharmacodynamics and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include spinal cord, brain and cerebellum, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

NIH Rare Diseases:48 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, inflammation of the tissue that surrounds the brain and spinal cord (meningitis), hemorrhage, a tumor, or inflammation of one of the membranes that surrounds the spinal cord (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: 8/22/2016

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 referring to a disorder in... more...

Related Diseases for Syringomyelia

About this section

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 137)
idRelated DiseaseScoreTop Affiliating Genes
1idiopathic syringomyelia12.0
2secondary syringomyelia12.0
3primary syringomyelia12.0
4familial syringomyelia11.9
5chiari malformation type i11.4
6chiari malformation11.2
7neurocutaneous melanosis, somatic10.9
8chiari malformation type ii10.9
9aminoacylase 1 deficiency10.8
10basilar impression, primary10.8
11arachnoiditis10.3
12cervicitis10.2
13scoliosis10.2
14frontotemporal lobar degeneration with ubiquitin-positive inclusions10.2COL1A1, VDR
15hydrocephalus10.2
16thbd-related atypical hemolytic-uremic syndrome10.2COL1A1, VDR
17syringobulbia10.1
18arachnoid cysts10.1
19jackson-weiss syndrome10.1COL1A1, FGFR2
20scapuloperoneal myopathy10.1COL1A1, VDR
21spinal arachnoiditis10.0
22arthropathy10.0
23ischemic bone disease10.0COL1A1, FGFR2
24meningitis9.9
25hydromyelia9.9
26spondylosis9.9
27hemangioblastoma9.8
28ependymoma9.8
29physical disorder9.8COL1A1, VDR
30tangier disease9.8
31idiopathic scoliosis9.8
32adolescent idiopathic scoliosis9.8
33tethered cord syndrome9.8
34tuberculous meningitis9.8
35medulloblastoma9.7
36diastematomyelia9.7
37spinal cord injury9.7
38peritonitis9.7
39hajdu-cheney syndrome9.7
40myelomeningocele9.7
41klippel-feil syndrome9.7
42respiratory failure9.7
43normal pressure hydrocephalus9.7
44ulnar neuropathy9.7
45cerebellopontine angle meningioma9.7
46neuropathy9.7
47glioma9.7
48foot drop9.7
49headache9.7
50dandy-walker syndrome9.6

Graphical network of the top 20 diseases related to Syringomyelia:



Diseases related to syringomyelia

Symptoms & Phenotypes for Syringomyelia

About this section

UMLS symptoms related to Syringomyelia:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, edema of spinal cord, radicular pain, pain in spine, vertigo/dizziness, sleeplessness

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5AQP4, COL1A1, FGFR2, VDR
2MP:00053819.2AQP4, COL1A1, FGFR2, NRAS, VDR
3MP:00053918.0AQP4, COL1A1, FGFR2, HSF4, NRAS

Drugs & Therapeutics for Syringomyelia

About this section

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Hyaluronic acidapproved, vet_approvedPhase 44399004-61-953477741, 24759
Synonyms:
Hyaluronan
Hyaluronate
Hyaluronic acid
Hylartil
Hyruan Plus
Luronit
 
Macronan
Mucoitin
Nutra-HAF
Q 5AQ
Sepracoat
Sepragel Sinus
Sofast
Synvisc
2Adjuvants, ImmunologicPhase 42484
3ViscosupplementsPhase 4364
4Protective AgentsPhase 47190
5Immunoglobulins6045
6Antibodies6045
7Antibodies, Antiphospholipid29

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Platelet-rich Plasma vs. Hyaluronic Acid for Glenohumeral OsteoarthritisRecruitingNCT02984228Phase 4
2Clinical Trial of a Serious Game for Individuals With SCI/DRecruitingNCT02341950Phase 3
3Efficacy Assessment of the Cell Therapy Medicine NC1 in Patients With Post-traumatic SyringomyeliaActive, not recruitingNCT02807142Phase 2
4Safety of Autologous Human Schwann Cells (ahSC) in Subjects With Subacute SCICompletedNCT01739023Phase 1
5Study and Surgical Treatment of SyringomyeliaCompletedNCT00011245
6Establishing the Physiology of SyringomyeliaCompletedNCT00001327
7Centralized Reading Assessment of Chronic CerebroSpinal Venous Insufficiency (CCSVI) in Patients With Multiple Sclerosis and Other Neurological DiseasesCompletedNCT02308579
8Characterization of At-risk Population for Pre-sacral Tumor in CURRARINO SyndromeCompletedNCT00780117
9A Prospective Natural History Study of Patients With SyringomyeliaRecruitingNCT01150708
10Genetic Analysis of the Chiari I MalformationRecruitingNCT00004738
11The Genetics of Chiari Type I MalformationActive, not recruitingNCT01060800
12Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With SyringomyeliaNot yet recruitingNCT02669836

Search NIH Clinical Center for Syringomyelia


Cochrane evidence based reviews: syringomyelia

Genetic Tests for Syringomyelia

About this section

Genetic tests related to Syringomyelia:

id Genetic test Affiliating Genes
1 Syringomyelia27

Anatomical Context for Syringomyelia

About this section

MalaCards organs/tissues related to Syringomyelia:

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

Publications for Syringomyelia

About this section

Articles related to Syringomyelia:

(show top 50)    (show all 764)
idTitleAuthorsYear
1
Inwardly rectifying potassium channel 4.1 expression in post-traumatic syringomyelia. (26768400)
2016
2
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
3
Cerebellar and hindbrain motion in Chiari malformation with and without syringomyelia. (26722953)
2016
4
Direct-trauma model of posttraumatic syringomyelia with a computer-controlled motorized spinal cord impactor. (26824588)
2016
5
Does Surgical Correction of Right Thoracic Scoliosis in Syringomyelia Produce Outcomes Similar to Those in Adolescent Idiopathic Scoliosis? (26888677)
2016
6
The changes of syrinx volume after posterior reduction and fixation of basilar invagination and atlantoaxial dislocation with syringomyelia. (27554349)
2016
7
Syringomyelia in Hereditary Multiple Exostosis. (27480811)
2016
8
Update on the pathophysiology and management of syringomyelia unrelated to Chiari malformation. (27939111)
2016
9
Spinal cord stimulation combined with microsurgical DREZotomy for pain due to syringomyelia. (27080749)
2016
10
Longitudinal measurements of syrinx size in a rat model of posttraumatic syringomyelia. (26918577)
2016
11
Spinal Cord Transcriptomic and Metabolomic Analysis after Excitotoxic Injection Injury Model of Syringomyelia. (27736311)
2016
12
Inaugural hyperhidrosis revealing syringomyelia in a spinal cord injured men T10 AIS A. (27676770)
2016
13
Morphometric features of posterior cranial fossa are different between Chiari I malformation with and without syringomyelia. (26821142)
2016
14
Inheritance of Chiari-Like Malformation: Can a Mixed Breeding Reduce the Risk of Syringomyelia? (27008271)
2016
15
Response to "Syringomyelia secondary to 'occult' dorsal arachnoid webs: Report of two cases with review of literature" by Sayal et al. (27630482)
2016
16
Entire syringomyelia associated with Chiari II malformation and severe scoliosis and hydrocephalus. (27858679)
2016
17
A poroelastic fluid/structure-interaction model of cerebrospinal fluid dynamics in the cord with syringomyelia and adjacent subarachnoid-space stenosis. (27617710)
2016
18
Myotonic Dystrophy Type 1 with Syringomyelia in a Young Patient. (26879026)
2016
19
Syringomyelia caused by an arachnoid web in a patient with shunted Dandy-Walker malformation. (27822765)
2016
20
Visualization of cerebrospinal fluid flow in syringomyelia through noninvasive magnetic resonance imaging with a time-spatial labeling inversion pulse (Time-SLIP). (26864698)
2016
21
Bilateral vocal cord palsy causing stridor as the only symptom of syringomyelia and Chiari I malformation, a case report. (27315431)
2016
22
Magnetic resonance imaging-based measures of atlas position: Relationship to canine atlantooccipital overlapping, syringomyelia and clinical signs. (26857868)
2016
23
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
24
Dogs attending primary-care practice in England with clinical signs suggestive of Chiari-like malformation/syringomyelia. (27534983)
2016
25
Bilateral ulnar neuropathy at the elbow secondary to Charcot-joint associated with Chiari malformation and syringomyelia. (27625285)
2016
26
Poster 257 Tizanidine Reduces Night Sweats due to Dysautonomia in Syringomyelia: A Case Report. (27673012)
2016
27
Longitudinal Study of the Relationship among Craniocervical Morphology, Clinical Progression, and Syringomyelia in a Cohort of Cavalier King Charles Spaniels. (27311874)
2016
28
Effectiveness of Selective Thoracic Fusion in the Surgical Treatment of Syringomyelia-associated Scoliosis: A Case-control Study With Long-term Follow-up. (27398797)
2016
29
Cervical spinal canal narrowing in idiopathic syringomyelia. (27194170)
2016
30
Low intensity signal in T2-weighted MRI images around syringomyelia in a patient with severe scoliosis associated with Chiari malformation Type I. (26970598)
2016
31
Syringomyelia Caused by Traumatic Intracranial Hypotension: Case Report and Literature Review. (27126910)
2016
32
Symptomatic Chiari Malformation with Syringomyelia after Severe Traumatic Brain Injury: Case Report. (27162930)
2016
33
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
34
Syringomyelia secondary to "occult" dorsal arachnoid webs: Report of two cases with review of literature. (27217656)
2016
35
Surgical Management of Adult Reducible Atlantoaxial Dislocation, Basilar Invagination and Chiari Malformation with Syringomyelia. (27400111)
2016
36
Spontaneous resolution of Chiari malformation and associated syringomyelia. (27841218)
2016
37
Acquired Chiari Malformation and Syringomyelia Secondary to Space-Occupying Lesions: A Systematic Review. (27894943)
2016
38
Early syringomyelia in tubercular meningitis: A rare occurrence. (27728436)
2016
39
Syringomyelia presenting as type 2 respiratory failure. (27728638)
2016
40
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
41
Craniocervical decompression with duraplasty and cerebellar tonsillectomy as treatment for Chiari malformation-I complicated with syringomyelia. (25730033)
2015
42
Pulse wave myelopathy: An update of an hypothesis highlighting the similarities between syringomyelia and normal pressure hydrocephalus. (26362731)
2015
43
Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia and horse-shoe kidney. (26482981)
2015
44
Clinical-radiological improvement following low-tech surgical treatment of an extensive cervical-medullary idiopathic syringomyelia in a low-resource African neurosurgical practice. (25697142)
2015
45
Chiari malformation, syringomyelia and bulbar palsy in X linked hypophosphataemia. (26561226)
2015
46
Diffusion tensor imaging in cervical syringomyelia secondary to Chiari I malformation: preliminary results. (25584946)
2015
47
Intractable hiccups caused by syringobulbia and syringomyelia associated with intramedullary spinal hemangioblastoma. (25716660)
2015
48
Comparison of the scoliosis curve patterns and MRI syrinx cord characteristics of idiopathic syringomyelia versus Chiari I malformation. (26162920)
2015
49
Obstructive sleep apnoea associated with syringomyelia. (25853349)
2015
50
The roads to mitochondrial dysfunction in a rat model of posttraumatic syringomyelia. (25685811)
2015

Variations for Syringomyelia

About this section

Expression for genes affiliated with Syringomyelia

About this section
Search GEO for disease gene expression data for Syringomyelia.

Pathways for genes affiliated with Syringomyelia

About this section

GO Terms for genes affiliated with Syringomyelia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1Golgi apparatusGO:00057948.9COL1A1, FGFR2, MAN1B1, NRAS

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

idNameGO IDScoreTop Affiliating Genes
1skeletal system morphogenesisGO:00487059.8COL1A1, FGFR2

Sources for Syringomyelia

About this section
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