MCID: SYR001
MIFTS: 49

Syringomyelia

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

Aliases & Classifications for Syringomyelia

MalaCards integrated aliases for Syringomyelia:

Name: Syringomyelia 12 76 53 54 37 29 43 44 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:327
MeSH 44 D013595
NCIt 50 C85179
KEGG 37 H01675
UMLS 73 C0039144

Summaries for Syringomyelia

NINDS : 54 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 primary biliary cholangitis and traumatic brain injury, and has symptoms including seizures, tremor and back pain. An important gene associated with Syringomyelia is ACY1 (Aminoacylase 1), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt 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 bone, and related phenotype is digestive/alimentary.

NIH Rare Diseases : 53 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.

MedlinePlus : 43 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 : 76 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 188)
# Related Disease Score Top Affiliating Genes
1 primary biliary cholangitis 29.7 NRAS VDR
2 traumatic brain injury 29.5 AQP4 GH1
3 syringomyelia, noncommunicating isolated 12.3
4 idiopathic syringomyelia 12.3
5 secondary syringomyelia 12.3
6 primary syringomyelia 12.2
7 familial syringomyelia 12.2
8 chiari malformation type i 11.6
9 chiari malformation 11.5
10 hydromyelia 11.5
11 melanosis, neurocutaneous 11.5
12 chiari malformation type ii 11.4
13 myelomeningocele 11.3
14 tethered spinal cord syndrome 11.3
15 syringohydromyelia 11.1
16 basilar impression, primary 11.0
17 toe syndactyly, telecanthus, and anogenital and renal malformations 11.0
18 aminoacylase 1 deficiency 11.0
19 scoliosis 10.6
20 hydrocephalus 10.5
21 arachnoiditis 10.4
22 arachnoid cysts 10.4
23 arthropathy 10.4
24 syringobulbia 10.4
25 spinal arachnoiditis 10.3
26 meningitis 10.3
27 multiple sclerosis 10.2
28 respiratory failure 10.2
29 spondylosis 10.2
30 tuberculous meningitis 10.2
31 spinal cord injury 10.1
32 idiopathic scoliosis 10.1
33 hemangioblastoma 10.1
34 dandy-walker complex 10.1
35 melanomatosis 10.1 CWC22 NRAS
36 tethered cord syndrome 10.1
37 meningeal melanomatosis 10.1 CWC22 NRAS
38 van buchem disease 10.1 COL1A1 VDR
39 meningeal melanocytoma 10.1 CWC22 NRAS
40 joint disorders 10.1
41 ependymoma 10.1
42 central nervous system melanocytic neoplasm 10.0 CWC22 NRAS
43 medulloblastoma 10.0
44 scoliosis, isolated 1 10.0
45 tangier disease 10.0
46 neuropathy 10.0
47 sclerosteosis 10.0 COL1A1 VDR
48 bone disease 10.0 COL1A1 FGFR2 VDR
49 diastematomyelia 10.0
50 klippel-feil syndrome 10.0

Graphical network of the top 20 diseases related to Syringomyelia:



Diseases related to Syringomyelia

Symptoms & Phenotypes for Syringomyelia

UMLS symptoms related to Syringomyelia:


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

MGI Mouse Phenotypes related to Syringomyelia:

46
# 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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2 Adjuvants, Immunologic Phase 4
3 Protective Agents Phase 4
4 Viscosupplements Phase 4
5 Immunologic Factors Phase 4
6 Antibodies, Antiphospholipid
7 Immunoglobulins
8 Antibodies

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 Completed 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 Not Applicable
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 Not Applicable
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 29

Anatomical Context for Syringomyelia

MalaCards organs/tissues related to Syringomyelia:

41
Spinal Cord, Brain, Bone, Tonsil, Skin, Testes, Liver

Publications for Syringomyelia

Articles related to Syringomyelia:

(show top 50) (show all 1211)
# Title Authors Year
1
Origin of Syrinx Fluid in Syringomyelia: A Physiological Study. ( 29618081 )
2018
2
Prevalence of syringomyelia in clinically unaffected Cavalier King Charles Spaniels in Germany (2006-2016). ( 29898477 )
2018
3
Rhythmic Neck Muscle Spasms and Upper Limb Muscle Myoclonic Jerks as an Unusual Initial Presentation of Posttraumatic Cervicothoracic Syringomyelia: A Case Report. ( 29550415 )
2018
4
Adult Chiari Type 1 Malformation with Holocord Syringomyelia Associated with Sagittal Synostosis. ( 29354335 )
2018
5
Clinical manifestations and radiological characteristics in patients with idiopathic syringomyelia and scoliosis. ( 29961133 )
2018
6
Thoracic ossification of ligamentum flavum manifesting holocord syringomyelia: case report. ( 29445966 )
2018
7
Resolution of isolated syringomyelia after removing thoracic disc herniation. ( 29316818 )
2018
8
Unilateral hyperhidrosis as persistently isolated feature of syringomyelia and Arnold Chiari type 1. ( 29637451 )
2018
9
Head tremor as a warning symptom of rapidly progressive syringomyelia: a case report. ( 29582178 )
2018
10
Diffusion Tensor Imaging in Diagnosis of Post-Traumatic Syringomyelia in Spinal Cord Injury in Rats. ( 29311540 )
2018
11
Understanding and Treating Chiari-like Malformation and Syringomyelia in Dogs. ( 29793722 )
2018
12
Syringomyelia with intramedullary ectopic choroid plexus: Case report. ( 29609116 )
2018
13
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
14
A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels. ( 29566674 )
2018
15
Surgical treatment for severe and rigid scoliosis: a case-matched study between idiopathic scoliosis and syringomyelia-associated scoliosis. ( 29800706 )
2018
16
Dandy-Walker malformation and syringomyelia: a rare association. ( 29532167 )
2018
17
International survey on the management of Chiari 1 malformation and syringomyelia: evolving worldwide opinions. ( 29532166 )
2018
18
Spontaneous Resolution of Chiari 1-Associated Syringomyelia: A Report of Two Cases. ( 29734193 )
2018
19
Syringomyelia with left knee charcot arthropathy: a case report. ( 29405778 )
2018
20
Case report: Development of syringomyelia after anatomically successful craniovertebral decompression for Chiari I malformation without syrinx. ( 29688076 )
2018
21
Syringomyelia in an Adult American Paint Horse. ( 29621191 )
2018
22
How Should Syringomyelia be Defined and Diagnosed? ( 29317358 )
2018
23
Questionnaire-based Analysis of Owner-reported Scratching andA Pain Signs in Cavalier King Charles Spaniels Screened for Chiari-like Malformation and Syringomyelia. ( 29105875 )
2018
24
Cell therapy with autologous mesenchymal stromal cells in post-traumatic syringomyelia. ( 29784434 )
2018
25
Charcot arthropathy of the shoulder joint as a presenting feature of basilar impression with syringomyelia: A case report and literature review. ( 29995782 )
2018
26
Spinal neuraxial anaesthesia for caesarean section in a parturient with type I Arnold Chiari malformation and syringomyelia. ( 30013789 )
2018
27
Morphogenesis of Canine Chiari Malformation and Secondary Syringomyelia: Disorders of Cerebrospinal Fluid Circulation. ( 30101146 )
2018
28
Dura-splitting versus a combined technique for Chiari malformation type I complicated with syringomyelia. ( 30146911 )
2018
29
Comparison decompression by duraplasty or cerebellar tonsillectomy for Chiari malformation-I complicated with syringomyelia. ( 30448544 )
2018
30
Comorbid presentation of syringomyelia and Guillain-Barre syndrome, attributed to mycoplasma, in a 6-year-old female patient. ( 30262531 )
2018
31
Dorsal hemangioblastoma manifesting as holocord syringomyelia. ( 29721352 )
2018
32
Hydrocephalus combined with acute communicating syringomyelia resulting from aneurysmal subarachnoid hemorrhage: A case report. ( 29397951 )
2018
33
Klippel-Feil Syndrome with Auxiliary Anterior Cervical Meningomyelocele and Thoracic Syringomyelia: A Case Report. ( 30028777 )
2018
34
Association of syringomyelia with lower urinary tract dysfunction in anterior sacral meningocele with a tethered spinal cord: A case report and literature summary. ( 29682854 )
2018
35
Syringomyelia-like syndrome in neuromyelitis optica spectrum disorder complicated with Sjogren's syndrome: a case report. ( 30301458 )
2018
36
Progressive Scoliosis and Syringomyelia - Questions of Surgical Approach. ( 30355829 )
2018
37
Syringomyelia due to Lumbar Spinal Fluid Drainage in the Acute Phase of Subarachnoid Hemorrhage: A Case Report. ( 28967591 )
2018
38
Syrinx to Subarachnoid Shunting for Syringomyelia. ( 29017977 )
2018
39
Computer simulation of syringomyelia in dogs. ( 29523203 )
2018
40
Interval Recovery of Syringomyelia in Chiari I Malformation Patient with Acute Cervical Trauma After Anterior Decompression: Case Report and Review of Literature. ( 29981915 )
2018
41
Basilar invagination, syringomyelia and Chiari formation and their relationship with atlantoaxial instability. ( 30038072 )
2018
42
Fluid dynamics in syringomyelia cavities: Effects of heart rate, CSF velocity, CSF velocity waveform and craniovertebral decompression. ( 30114970 )
2018
43
Subacute posttraumatic ascending myelopathy (SPAM): A potential complication of subarachnoid shunt for syringomyelia? ( 30156977 )
2018
44
Posttubercular syringomyelia in HIV-infected patients: A report of 10 cases and literature review. ( 30292964 )
2018
45
Investigation of sensory thresholds in Cavalier King Charles Spaniels with and without Chiari-like malformations and syringomyelia. ( 30307645 )
2018
46
Secondary sacral tethered cord syndrome after treatment of secondary cervical syringomyelia. ( 30470654 )
2018
47
Pediatric intramedullary schwannoma with syringomyelia: a case report and literature review. ( 30486806 )
2018
48
Surgical treatment of a thoracic ventral intradural arachnoid cyst associated with syringomyelia: case report. ( 30497153 )
2018
49
Fourth ventricle stent placement for treatment of recurrent syringomyelia in patients with type I Chiari malformations. ( 30497207 )
2018
50
Scapular Fracture as Isolated Manifestation of Charcot Neuroarthropathy in Syringomyelia. ( 30532376 )
2018

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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