MCID: SYR001
MIFTS: 51

Syringomyelia

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

Aliases & Classifications for Syringomyelia

MalaCards integrated aliases for Syringomyelia:

Name: Syringomyelia 12 77 54 55 38 30 44 45 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:327
KEGG 38 H01675
MeSH 45 D013595
NCIt 51 C85179
UMLS 74 C0039144

Summaries for Syringomyelia

NINDS : 55 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 traumatic brain injury and syringomyelia, noncommunicating isolated, 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 Antibodies and Antibodies, Antiphospholipid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and tonsil, and related phenotypes are digestive/alimentary and hearing/vestibular/ear

NIH Rare Diseases : 54 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 : 44 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 : 77 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 224)
# Related Disease Score Top Affiliating Genes
1 traumatic brain injury 29.8 AQP4 GH1
2 syringomyelia, noncommunicating isolated 12.4
3 idiopathic syringomyelia 12.3
4 secondary syringomyelia 12.3
5 primary syringomyelia 12.3
6 familial syringomyelia 12.2
7 chiari malformation type i 11.6
8 hydromyelia 11.5
9 chiari malformation 11.5
10 melanosis, neurocutaneous 11.5
11 chiari malformation type ii 11.4
12 myelomeningocele 11.4
13 tethered spinal cord syndrome 11.4
14 syringohydromyelia 11.2
15 basilar impression, primary 11.0
16 toe syndactyly, telecanthus, and anogenital and renal malformations 11.0
17 aminoacylase 1 deficiency 11.0
18 scoliosis 10.6
19 hydrocephalus 10.5
20 arachnoiditis 10.5
21 joint disorders 10.4
22 arthropathy 10.4
23 arachnoid cysts 10.4
24 syringobulbia 10.4
25 spinal arachnoiditis 10.3
26 meningitis 10.3
27 congenital hydrocephalus 10.3
28 multiple sclerosis 10.2
29 spinal cord injury 10.2
30 tuberculous meningitis 10.2
31 spondylosis, cervical 10.2
32 spondylosis 10.2
33 hemangioblastoma 10.2
34 idiopathic scoliosis 10.1
35 respiratory failure 10.1
36 dandy-walker complex 10.1
37 van buchem disease 10.1 COL1A1 VDR
38 tethered cord syndrome 10.1
39 benign ependymoma 10.1
40 ependymoma 10.1
41 sclerosteosis 10.1 COL1A1 VDR
42 medulloblastoma 10.0
43 scoliosis, isolated 1 10.0
44 tangier disease 10.0
45 neuropathy 10.0
46 bone resorption disease 10.0 COL1A1 VDR
47 diastematomyelia 10.0
48 klippel-feil syndrome 10.0
49 horner's syndrome 10.0
50 paraplegia 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.55 AQP4 COL1A1 FGFR2 NRAS VDR
2 hearing/vestibular/ear MP:0005377 9.26 AQP4 COL1A1 FGFR2 VDR
3 vision/eye MP:0005391 9.02 AQP4 COL1A1 FGFR2 HSF4 NRAS

Drugs & Therapeutics for Syringomyelia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies
2 Antibodies, Antiphospholipid
3 Immunoglobulins

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Efficacy Assessment of the Cell Therapy Medicine NC1 in Patients With Post-traumatic Syringomyelia Completed NCT02807142 Phase 2
2 Autologous Bulbar Olfactory Ensheathing Cells and Nerve Grafts for Treatment of Patients With Spinal Cord Transection Recruiting NCT03933072 Phase 1, 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 Genetic Analysis of the Chiari I Malformation Recruiting NCT00004738
11 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Active, not recruiting NCT02669836 Not Applicable
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 30

Anatomical Context for Syringomyelia

MalaCards organs/tissues related to Syringomyelia:

42
Spinal Cord, Brain, Tonsil, Skin, Testes, Pituitary, Cerebellum

Publications for Syringomyelia

Articles related to Syringomyelia:

(show top 50) (show all 1702)
# Title Authors Year
1
MR neurography showed brachial plexus abnormalities in syringomyelia with shoulder Charcot arthropathy: a case report. ( 30892961 )
2019
2
Neuropathic arthropathy of the shoulder joint caused by syringomyelia: report of a rare case. ( 30850574 )
2019
3
Intramedullary bronchogenic cyst in the foramen magnum region accompanied with syringomyelia: A case report and literature review. ( 30702626 )
2019
4
The Role of Arachnoid Veils in Chiari Malformation Associated with Syringomyelia. ( 30610308 )
2019
5
Clinical deterioration despite syringomyelia resolution after successful foramen magnum decompression for Chiari malformation - Case series. ( 30683486 )
2019
6
Tetraplegia associated with post-operative syringomyelia in spinal tuberculosis: a result of an epidural compartment syndrome? ( 30774988 )
2019
7
Dandy-Walker syndrome associated with syringomyelia in an adult: a case report and literature review. ( 30799663 )
2019
8
Clinical analysis of syringomyelia resulting from spinal hemangioblastoma in a single series of 38 consecutive patients. ( 30999208 )
2019
9
Surgical treatment for severe and rigid scoliosis: a case-matched study between idiopathic scoliosis and syringomyelia-associated scoliosis. ( 29800706 )
2019
10
Origin of Syrinx Fluid in Syringomyelia: A Physiological Study. ( 29618081 )
2019
11
Secondary sacral tethered cord syndrome after treatment of secondary cervical syringomyelia. ( 30470654 )
2019
12
Atlantoaxial Fixation for Treatment of Chiari Formation and Syringomyelia with No Craniovertebral Bone Anomaly: Report of an Experience with 57 Cases. ( 30610309 )
2019
13
Treatment of Holocord Syringomyelia-Chiari Complex by Posterior Fossa Decompression and a Syringosubarachnoid Shunt in a Single-Stage Single Approach. ( 30610313 )
2019
14
Spinal kyphoscoliosis associated with Chiari formation and syringomyelia- 'recovery' following atlantoaxial fixation: a preliminary report and early results based on experience with 11surgically treated cases. ( 30763740 )
2019
15
Complex spinal dysraphism: myelomenigocele associated with dorsal bony spur, split cord malformation type I, syringomyelia, lipoma and tethered cord. ( 30836021 )
2019
16
Mechanical sensory threshold in Cavalier King Charles spaniels with syringomyelia-associated scratching and control dogs. ( 30902196 )
2019
17
Intradural Extramedullary Epidermoid Cyst at the Conus Medullaris Level with Thoracic Syringomyelia: A Case Report. ( 30931896 )
2019
18
Large Intradiploic Growing Skull Fracture of the Posterior Fossa with Syringomyelia. ( 30937040 )
2019
19
Investigation of the Neuropathic Pain Caused by Syringomyelia Associated with Chiari I Malformation. ( 30966726 )
2019
20
Charcot arthropathy of the shoulder joint as a presenting feature of basilar impression with syringomyelia: A case report and literature review. ( 29995782 )
2018
21
Neuropathic arthropathy of the shoulder joint secondary to a syringomyelia. ( 30567186 )
2018
22
Syringomyelia with left knee charcot arthropathy: a case report. ( 29405778 )
2018
23
Spinal neuraxial anaesthesia for caesarean section in a parturient with type I Arnold Chiari malformation and syringomyelia. ( 30013789 )
2018
24
Morphogenesis of Canine Chiari Malformation and Secondary Syringomyelia: Disorders of Cerebrospinal Fluid Circulation. ( 30101146 )
2018
25
Dura-splitting versus a combined technique for Chiari malformation type I complicated with syringomyelia. ( 30146911 )
2018
26
Comparison decompression by duraplasty or cerebellar tonsillectomy for Chiari malformation-I complicated with syringomyelia. ( 30448544 )
2018
27
Endoscopic Management of Arnold-Chiari Malformation Type I with or without Syringomyelia. ( 28586935 )
2018
28
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
29
Comorbid presentation of syringomyelia and Guillain-Barre syndrome, attributed to mycoplasma, in a 6-year-old female patient. ( 30262531 )
2018
30
Dorsal hemangioblastoma manifesting as holocord syringomyelia. ( 29721352 )
2018
31
Hydrocephalus combined with acute communicating syringomyelia resulting from aneurysmal subarachnoid hemorrhage: A case report. ( 29397951 )
2018
32
Clinical manifestations and radiological characteristics in patients with idiopathic syringomyelia and scoliosis. ( 29961133 )
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
Adult Chiari Type 1 Malformation with Holocord Syringomyelia Associated with Sagittal Synostosis. ( 29354335 )
2018
38
Diffusion Tensor Imaging in Diagnosis of Post-Traumatic Syringomyelia in Spinal Cord Injury in Rats. ( 29311540 )
2018
39
Syringomyelia due to Lumbar Spinal Fluid Drainage in the Acute Phase of Subarachnoid Hemorrhage: A Case Report. ( 28967591 )
2018
40
Syrinx to Subarachnoid Shunting for Syringomyelia. ( 29017977 )
2018
41
Questionnaire-based Analysis of Owner-reported Scratching and Pain Signs in Cavalier King Charles Spaniels Screened for Chiari-like Malformation and Syringomyelia. ( 29105875 )
2018
42
Choroid Plexus in the Central Canal of the Spinal Cord Causing Recurrent Syringomyelia. ( 29294392 )
2018
43
Resolution of isolated syringomyelia after removing thoracic disc herniation. ( 29316818 )
2018
44
How Should Syringomyelia be Defined and Diagnosed? ( 29317358 )
2018
45
Thoracic ossification of ligamentum flavum manifesting holocord syringomyelia: case report. ( 29445966 )
2018
46
Computer simulation of syringomyelia in dogs. ( 29523203 )
2018
47
International survey on the management of Chiari 1 malformation and syringomyelia: evolving worldwide opinions. ( 29532166 )
2018
48
Dandy-Walker malformation and syringomyelia: a rare association. ( 29532167 )
2018
49
Rhythmic Neck Muscle Spasms and Upper Limb Muscle Myoclonic Jerks as an Unusual Initial Presentation of Posttraumatic Cervicothoracic Syringomyelia: A Case Report. ( 29550415 )
2018
50
A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels. ( 29566674 )
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 cellular response to transforming growth factor beta stimulus GO:0071560 9.26 COL1A1 FGFR2
2 response to nutrient levels GO:0031667 9.16 COL1A1 GH1
3 skeletal system morphogenesis GO:0048705 8.96 COL1A1 FGFR2
4 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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