MCID: SYR001
MIFTS: 49

Syringomyelia

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

Aliases & Classifications for Syringomyelia

MalaCards integrated aliases for Syringomyelia:

Name: Syringomyelia 12 72 49 50 36 28 40 41 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:327
MeSH 41 D013595
NCIt 46 C85179
KEGG 36 H01675
UMLS 69 C0039144

Summaries for Syringomyelia

NINDS : 50 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 syringomyelia, noncommunicating isolated and idiopathic syringomyelia, and has symptoms including sleeplessness, vertigo/dizziness and chronic pain. An important gene associated with Syringomyelia is ACY1 (Aminoacylase 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and VEGF Signaling Pathway. The drugs Hyaluronic acid and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and skin, and related phenotype is digestive/alimentary.

NIH Rare Diseases : 49 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 : 40 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 : 72 Syringomyelia is a generic term referring to a disorder in which a cyst or cavity forms within the... more...

Related Diseases for Syringomyelia

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 177)
# Related Disease Score Top Affiliating Genes
1 syringomyelia, noncommunicating isolated 12.2
2 idiopathic syringomyelia 12.1
3 secondary syringomyelia 12.1
4 primary syringomyelia 12.1
5 familial syringomyelia 12.0
6 chiari malformation type i 11.5
7 hydromyelia 11.3
8 melanosis, neurocutaneous 11.3
9 chiari malformation 11.3
10 myelomeningocele 11.2
11 syringohydromyelia 11.0
12 basilar impression, primary 10.8
13 chiari malformation type ii 10.8
14 aminoacylase 1 deficiency 10.8
15 tethered spinal cord syndrome 10.8
16 arachnoiditis 10.4
17 cervicitis 10.4
18 scoliosis 10.3
19 hydrocephalus 10.3
20 episodic pain syndrome, familial, 1 10.2
21 syringobulbia 10.2
22 spinal arachnoiditis 10.2
23 melanomatosis 10.2 CWC22 NRAS
24 arachnoid cysts 10.2
25 meningeal melanomatosis 10.2 CWC22 NRAS
26 meningeal melanocytoma 10.2 CWC22 NRAS
27 arthropathy 10.1
28 van buchem disease 10.1 COL1A1 VDR
29 central nervous system melanocytic neoplasm 10.1 CWC22 NRAS
30 meningitis 10.1
31 sclerosteosis 10.0 COL1A1 VDR
32 spondylosis 10.0
33 meningioma, familial 10.0
34 bone resorption disease 10.0 COL1A1 VDR
35 multiple sclerosis 9.9
36 hemangioblastoma 9.9
37 ependymoma 9.9
38 tuberculous meningitis 9.9
39 medulloblastoma 9.9
40 scoliosis, isolated 1 9.9
41 tangier disease 9.9
42 spinal cord injury 9.9
43 idiopathic scoliosis 9.9
44 tethered cord syndrome 9.9
45 bone development disease 9.9 COL1A1 FGFR2
46 diastematomyelia 9.8
47 peritonitis 9.8
48 hajdu-cheney syndrome 9.8
49 hydrocephalus, normal-pressure 9.8
50 spinal stenosis 9.8

Graphical network of the top 20 diseases related to Syringomyelia:



Diseases related to Syringomyelia

Symptoms & Phenotypes for Syringomyelia

UMLS symptoms related to Syringomyelia:


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

MGI Mouse Phenotypes related to Syringomyelia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.02 AQP4 COL1A1 FGFR2 NRAS VDR

Drugs & Therapeutics for Syringomyelia

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
2 Adjuvants, Immunologic Phase 4
3 Protective Agents Phase 4
4 Viscosupplements Phase 4
5 Antibodies
6 Antibodies, Antiphospholipid
7 Immunoglobulins

Interventional clinical trials:

(show all 12)

# Name Status NCT ID Phase Drugs
1 Platelet-rich Plasma vs. Hyaluronic Acid for Glenohumeral Osteoarthritis Recruiting NCT02984228 Phase 4 Hyaluronic Acid
2 Efficacy Assessment of the Cell Therapy Medicine NC1 in Patients With Post-traumatic Syringomyelia Active, not recruiting NCT02807142 Phase 2
3 Safety of Autologous Human Schwann Cells (ahSC) in Subjects With Subacute SCI Completed NCT01739023 Phase 1
4 Study and Surgical Treatment of Syringomyelia Completed NCT00011245
5 Establishing the Physiology of Syringomyelia Completed NCT00001327
6 Clinical Trial of a Serious Game for Individuals With SCI/D Completed NCT02341950
7 Centralized Reading Assessment of Chronic CerebroSpinal Venous Insufficiency (CCSVI) in Patients With Multiple Sclerosis and Other Neurological Diseases Completed NCT02308579
8 Characterization of At-risk Population for Pre-sacral Tumor in CURRARINO Syndrome Completed NCT00780117
9 A Prospective Natural History Study of Patients With Syringomyelia Recruiting NCT01150708
10 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Recruiting NCT02669836
11 Genetic Analysis of the Chiari I Malformation Recruiting NCT00004738
12 The Genetics of Chiari Type I Malformation Active, not recruiting NCT01060800

Search NIH Clinical Center for Syringomyelia

Cochrane evidence based reviews: syringomyelia

Genetic Tests for Syringomyelia

Genetic tests related to Syringomyelia:

# Genetic test Affiliating Genes
1 Syringomyelia 28

Anatomical Context for Syringomyelia

MalaCards organs/tissues related to Syringomyelia:

38
Spinal Cord, Brain, Skin, Bone, Testes, Tonsil, Pineal

Publications for Syringomyelia

Articles related to Syringomyelia:

(show top 50) (show all 813)
# Title Authors Year
1
A points-based algorithm for prognosticating clinical outcome of Chiari malformation Type I with syringomyelia: results from a predictive model analysis of 82 surgically managed adult patients. ( 29125433 )
2018
2
Diffusion Tensor Imaging in Diagnosis of Post-Traumatic Syringomyelia in Spinal Cord Injury in Rats. ( 29311540 )
2018
3
Syringomyelia with left knee charcot arthropathy: a case report. ( 29405778 )
2018
4
Questionnaire-based Analysis of Owner-reported Scratching andA Pain Signs in Cavalier King Charles Spaniels Screened for Chiari-like Malformation and Syringomyelia. ( 29105875 )
2018
5
Adult Chiari Type 1 Malformation with Holocord Syringomyelia Associated with Sagittal Synostosis. ( 29354335 )
2018
6
Resolution of isolated syringomyelia after removing thoracic disc herniation. ( 29316818 )
2018
7
Thoracic ossification of ligamentum flavum manifesting holocord syringomyelia: case report. ( 29445966 )
2018
8
How Should Syringomyelia be Defined and Diagnosed? ( 29317358 )
2018
9
A nationwide survey of familial syringomyelia in Japan. ( 28991663 )
2017
10
Teaching NeuroImages: The Charcot shoulder: Chiari malformation with syringomyelia associated with arthropathy. ( 28739670 )
2017
11
Syringomyelia and Craniocervical Junction Abnormalities in Chihuahuas. ( 28892202 )
2017
12
Cell Therapy as a New Approach to the Treatment of Posttraumatic Syringomyelia. ( 28804041 )
2017
13
Endoscopic Management of Arnold-Chiari Malformation Type I with or without Syringomyelia. ( 28586935 )
2017
14
Idiopathic Syringomyelia in a Military Helicopter Pilot. ( 28923147 )
2017
15
Twelve years of chiari-like malformation and syringomyelia scanning in Cavalier King Charles Spaniels in the Netherlands: Towards a more precise phenotype. ( 28934242 )
2017
16
Syringomyelia without tonsillar herniation-cisterna magna herniation a cause? ( 28676979 )
2017
17
"Stealth cranioplasty:" A novel endeavor for symptomatic adult Chiari I patients with syringomyelia: Technical note, appraisal, and philosophical considerations. ( 29021676 )
2017
18
Syringomyelia Fluid Dynamics and Cord Motion Revealed by Serendipitous Null Point Artifacts during Cine MRI. ( 28751514 )
2017
19
Surgical treatment of multilevel cervical spondylosis in patients with or without a history of syringomyelia. ( 28190207 )
2017
20
Spontaneous regression of post-traumatic syringomyelia: A case report and literature review. ( 28712735 )
2017
21
Use of Morphometric Mapping to Characterise Symptomatic Chiari-Like Malformation, Secondary Syringomyelia and Associated Brachycephaly in the Cavalier King Charles Spaniel. ( 28122014 )
2017
22
Spontaneous resolution of syringomyelia in Chiari I malformation: A review of literature. ( 28879935 )
2017
23
Asymptomatic syringomyelia accompanied with metastatic cerebellar and spinal intramedullary lymphoma: A case report. ( 29145275 )
2017
24
Intradural pathology and pathophysiology associated with Chiari I malformation in children and adults with and without syringomyelia. ( 29027876 )
2017
25
Surgical Management of Syringomyelia Associated with Spinal Adhesive Arachnoiditis, a Late Complication of Tuberculous Meningitis: A Case Report. ( 28512616 )
2017
26
Choroid plexus in the central canal of the spinal cord causing recurrent syringomyelia. ( 29294392 )
2017
27
Cervicothoracic syringomyelia caused by cervical spinal stenosis: Case report and literature review. ( 29285404 )
2017
28
Delayed Presentation of Isolated Sagittal Synostosis With Raised Intracranial Pressure and Secondary Chiari Malformation With Cervical Syringomyelia. ( 28582306 )
2017
29
Spinal cord stimulation for a patient with neuropathic pain related to congenital syringomyelia. ( 28757924 )
2017
30
An Atypical Clinical Presentation of Post-traumatic Syringomyelia: A Case Report and Brief Review of the Literature. ( 29372126 )
2017
31
Syringo-Subarachnoid Shunt for the Treatment of Persistent Syringomyelia Following Decompression for Chiari Type I Malformation: Surgical Results. ( 28807779 )
2017
32
Treatment of syringomyelia in patients with arachnoiditis at the cranio-cervical junction. ( 28842236 )
2017
33
Posttraumatic Syringomyelia ( 29262020 )
2017
34
Iatrogenic syringomyelia secondary to lumboperitoneal shunt altered by the raised intra-abdominal pressure of pregnancy. ( 28637121 )
2017
35
Pathogenesis of Chiari I - Pathophysiology of Syringomyelia: Implications for Therapy: A Summary of 3 Decades of Clinical Research. ( 28899066 )
2017
36
Long term outcome of surgical treatment of Chiari Malformation without syringomyelia. ( 28677937 )
2017
37
Syringomyelia associated with cervical spondylotic myelopathy causing canal stenosis. A rare association. ( 28844366 )
2017
38
Chiari type I malformation with cervicothoracic syringomyelia subterfuge as flail arm syndrome. ( 29071044 )
2017
39
Acquired Chiari I Malformation with Syringomyelia secondary to Colloid cyst with Hydrocephalus - Case report and review of literature. ( 28899831 )
2017
40
Post-traumatic syringomyelia with holocord involvement: a case report. ( 28868156 )
2017
41
Characteristics of CSF Velocity-Time Profile in Posttraumatic Syringomyelia. ( 28729294 )
2017
42
Concurrent paediatric medulloblastoma and Chiari I malformation with syringomyelia. ( 28432427 )
2017
43
Syringomyelia. ( 28651957 )
2017
44
MRI characteristics for "phantom" scratching in canine syringomyelia. ( 29145838 )
2017
45
Arachnoiditis ossificans associated with syringomyelia: a case report. ( 29092643 )
2017
46
The 3D characteristics of post-traumatic syringomyelia in a rat model: a propagation-based synchrotron radiation microtomography study. ( 29091065 )
2017
47
Pan, Syrinx and syringomyelia. ( 29236893 )
2017
48
Chiari I malformation and syringomyelia in mucopolysaccharidosis type I (Hurler syndrome) treated with posterior fossa decompression: Case report and review of the literature. ( 28607814 )
2017
49
Early syringomyelia in tubercular meningitis: A rare occurrence. ( 27728436 )
2016
50
Direct-trauma model of posttraumatic syringomyelia with a computer-controlled motorized spinal cord impactor. ( 26824588 )
2016

Variations for Syringomyelia

Expression for Syringomyelia

Search GEO for disease gene expression data for Syringomyelia.

Pathways for Syringomyelia

GO Terms for Syringomyelia

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system morphogenesis GO:0048705 8.96 COL1A1 FGFR2
2 cellular response to fibroblast growth factor stimulus GO:0044344 8.62 COL1A1 FGFR2

Sources for Syringomyelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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