MCID: SYR001
MIFTS: 46

Syringomyelia

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

Aliases & Classifications for Syringomyelia

MalaCards integrated aliases for Syringomyelia:

Name: Syringomyelia 12 74 52 53 36 29 42 43 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:327
KEGG 36 H01675
MeSH 43 D013595
NCIt 49 C85179
UMLS 71 C0039144

Summaries for Syringomyelia

NINDS : 53 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 arachnoiditis and lumbosacral lipoma, and has symptoms including seizures, tremor and back pain. An important gene associated with Syringomyelia is ACY1 (Aminoacylase 1). 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 phenotypes are Decreased viability and Decreased viability

NIH Rare Diseases : 52 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 : 42 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.

KEGG : 36 Syringomyelia is a spinal disorder characterized by the presence of abnormal fluid-filled cavities within the spinal cord. Early symptoms include headache, altered pain and temperature sensation, and paresthesia. If fluid continues to enlarge the cyst, the syrinx has the potential to compress or destroy the affected portions of the spinal cord. Surgical intervention is typically recommended to treat this condition, although a successful procedure often is limited to providing minimal neurological improvement or simply halting the deterioration. The term syringomyelia describes many pathogenetically different disorders. A popular broad grouping is a classification based on the assumed pathogenesis and association with other disorders. It has been proposed to divide the disorder into three subgroups. (1) Syringomyelia as a result of changed cerebrospinal fluid (CSF) flow dynamics related to hindbrain disorders, e.g. Chiari malformation, Dandy-Walker syndrome, arachnoiditis or osseous abnormalities. (2) Syringomyelia as a result of intramedullary tissue damage caused by haemorrhage or infarction. (3) Syringomyelia as a result of intramedullary tumour with secretory capabilities. Other proposed classifications are based on syrinx fluid composition, central canal communication between syrinx and the fourth ventricle, or the microanatomical localisation of the syrinx.

Wikipedia : 74 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 431)
# Related Disease Score Top Affiliating Genes
1 arachnoiditis 31.7 RICTOR AQP4
2 lumbosacral lipoma 30.3 RICTOR PES1
3 traumatic brain injury 30.3 GH1 AQP4
4 scoliosis 30.2 VDR POC5 NF1 GH1 COL1A1
5 intracranial hypertension, idiopathic 30.0 GH1 AQP4
6 spinal cord disease 29.7 RICTOR NF1 AQP4
7 obstructive hydrocephalus 29.1 NF1 AQP4
8 syringomyelia, noncommunicating isolated 12.8
9 idiopathic syringomyelia 12.4
10 secondary syringomyelia 12.4
11 primary syringomyelia 12.4
12 familial syringomyelia 12.3
13 obsolete: primary syringomyelia/hydromyelia 12.2
14 obsolete: posttraumatic syringomyelia 12.2
15 chiari malformation type i 11.8
16 chiari malformation 11.8
17 hydromyelia 11.7
18 syringohydromyelia 11.6
19 melanosis, neurocutaneous 11.6
20 chiari malformation type ii 11.6
21 myelomeningocele 11.5
22 basilar impression, primary 11.5
23 toe syndactyly, telecanthus, and anogenital and renal malformations 11.2
24 aminoacylase 1 deficiency 11.2
25 tethered spinal cord syndrome 11.2
26 hydrocephalus 10.8
27 spinal arachnoiditis 10.8
28 spinal cord injury 10.7
29 arthropathy 10.6
30 syringobulbia 10.6
31 arachnoid cysts, intracranial 10.5
32 spasticity 10.5
33 rare surgical neurologic disease 10.5
34 idiopathic scoliosis 10.4
35 neurogenic arthropathy 10.4
36 paraplegia 10.4
37 tuberculous meningitis 10.4
38 meningioma, radiation-induced 10.4
39 meningioma, familial 10.4
40 spinal meningioma 10.4
41 secretory meningioma 10.4
42 lymphoplasmacyte-rich meningioma 10.4
43 meningitis 10.4
44 ataxia and polyneuropathy, adult-onset 10.4
45 stork bite 10.3 NRAS CD2AP
46 hemangioblastoma 10.3
47 lipomatosis, multiple 10.3
48 neural tube defects 10.3
49 pleomorphic lipoma 10.3
50 spondylosis 10.3

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

GenomeRNAi Phenotypes related to Syringomyelia according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.2 NF1 NRAS
2 Decreased viability GR00221-A-2 10.2 NF1
3 Decreased viability GR00221-A-3 10.2 NRAS
4 Decreased viability GR00221-A-4 10.2 NF1
5 Decreased viability GR00240-S-1 10.2 FMC1
6 Decreased viability GR00301-A 10.2 FGFR2
7 Decreased viability GR00342-S-1 10.2 FGFR2
8 Decreased viability GR00342-S-2 10.2 FGFR2
9 Decreased viability GR00342-S-3 10.2 FGFR2
10 Decreased viability GR00381-A-1 10.2 ACY1 CYREN FMC1 PES1 POC5
11 Decreased viability GR00402-S-2 10.2 ACY1 AQP4 CD2AP COL1A1 CYREN EDA
12 no effect GR00402-S-1 9.62 ACY1 AQP4 CD2AP COL1A1 CYREN EDA

MGI Mouse Phenotypes related to Syringomyelia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 AQP4 CD2AP COL1A1 CYREN FGFR2 FMC1
2 craniofacial MP:0005382 9.8 COL1A1 FGFR2 FMC1 NF1 NRAS PES1
3 embryo MP:0005380 9.76 COL1A1 FGFR2 FMC1 NF1 NRAS PES1
4 endocrine/exocrine gland MP:0005379 9.61 AQP4 CD2AP COL1A1 FGFR2 NF1 NRAS
5 renal/urinary system MP:0005367 9.17 AQP4 CD2AP COL1A1 FGFR2 NF1 RICTOR

Drugs & Therapeutics for Syringomyelia

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

(show all 20)
# 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
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
7
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
8
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
9 Calcium, Dietary Phase 2
10 Hormones Phase 2
11 Hormone Antagonists Phase 2
12
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
13
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
14 Micronutrients
15 Trace Elements
16 Nutrients
17 Ergocalciferols
18 Vitamin D2
19 Vitamins
20 Calciferol

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 The Efficacy of Ultrasound Guided Glenohumeral Joint Injections of Platelet Rich Plasma (PRP) Versus Hyaluronic Acid (HA) in the Treatment of Glenohumeral Osteoarthritis: a Randomized, Double-blind Control Trial Active, not recruiting NCT02984228 Phase 4 Hyaluronic Acid
2 To Study the Efficacy of Teriparatide in Improving Remodeling of Foot Bones in Chronic Charcot Neuroarthropathy in Patients With Diabetes Mellitus. Unknown status NCT02023411 Phase 2 Teriparatide
3 Efficacy Assessment of the Cell Therapy Medicine NC1 in Patients With Post-traumatic Syringomyelia Completed NCT02807142 Phase 2
4 Establishing the Physiology of Syringomyelia Completed NCT00001327
5 Establishing the Pathophysiology of Primary Spinal Syringomyelia Completed NCT00011245
6 Characterization of At-risk Population and Prognosis Factors for SACRO-coccygeal Teratoma in CURRARINO Syndrome. A Clinical, Molecular and Pathological Study. Completed NCT00780117
7 Central Sensitization in Vitamin D Deficiency and Effect of Vitamin D Replacement on Cutaneous Silent Period Completed NCT03420378
8 Evaluating the Effectiveness of a Serious Game to Enhance Self-Management Skills Among Adolescents and Young Adults With Spinal Cord Dysfunction Completed NCT02341950
9 Genetic Analysis of the Chiari I Malformation Recruiting NCT00004738
10 Assessment of Cerebrospinal Fluid Flow Related Disorders Using a Phase-contrast Magnetic Resonance Imaging Technique. Recruiting NCT03656016
11 A Prospective Natural History Study of Syringomyelia or Associated Conditions Active, not recruiting NCT01150708
12 The Genetics of Chiari Type I Malformation (CMI) With or Without Syringomyelia Active, not recruiting NCT01060800
13 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Active, not recruiting NCT02669836
14 Magnetic Resonance Imaging of the Spine Withdrawn NCT01382290

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:

40
Spinal Cord, Brain, Bone, Tonsil, Cerebellum, Heart, Skin

Publications for Syringomyelia

Articles related to Syringomyelia:

(show top 50) (show all 3485)
# Title Authors PMID Year
1
Intradural Extramedullary Epidermoid Cyst at the Conus Medullaris Level with Thoracic Syringomyelia: A Case Report. 61 42
30931896 2019
2
Early Syringomyelia in Tubercular Meningitis. 61 42
31317721 2018
3
Ultrasound-Assisted Combined Spinal-Epidural Anesthesia for Cesarean Delivery in a Parturient With Currarino Triad: A Case Report. 42
31162165 2019
4
CSF goes astray no matter what is in the way: occipital intradiploic pseudomeningocele and de novo syringomyelia following foramen magnum decompression for Chiari I malformation in a pediatric patient. 61
32032961 2020
5
[From cellulitis to arthrodesis]. 61
32022495 2020
6
The effect of filum terminale sectioning for Chiari 1 malformation treatment: systematic review. 61
31598783 2020
7
"Two-Birds-One-Stone" Approach for Treating an Infant with Chiari I Malformation and Hydrocephalus: Is Cerebrospinal Fluid Diversion as a Sole Treatment Enough? 61
32028005 2020
8
Thoracolumbar kyphoscoliotic deformity with neurological impairment secondary to a butterfly vertebra in an adult. 61
32026439 2020
9
Chiari I malformations with syringomyelia: long-term results of neurosurgical decompression. 61
31933098 2020
10
Tremor caused by Dandy-Walker syndrome concomitant with syringomyelia: A case report and literature review. 61
31954915 2020
11
Radiological outcome after surgical treatment of syringomyelia-Chiari I complex in adults: a systematic review and meta-analysis. 61
31953784 2020
12
Clinical and radiological outcomes of arachnoid-preseving suboccipital decompression for adult chiari I malformation with and without syringomyelia. 61
31751843 2020
13
Facial changes related to brachycephaly in Cavalier King Charles Spaniels with Chiari-like malformation associated pain and secondary syringomyelia. 61
31691386 2020
14
Letter to the Editor concerning "Outcomes of patients with syringomyelia undergoing spine deformity surgery: do large syrinxes behave differently from small?" by Samdani AF, et al. (Spine J. 2017; 17(10):1406-1411). 61
31843145 2020
15
Somatosensory and motor evoked potentials during correction surgery of scoliosis in neurologically asymptomatic Chiari malformation-associated scoliosis: A comparison with idiopathic scoliosis. 61
32006930 2020
16
Authors' response to Letter to the Editor concerning "Outcomes of patients with syringomyelia undergoing spine deformity surgery: do large syrinxes behave differently from small?" 61
31843146 2020
17
ETV for successful treatment of holocord syrinx with hydrocephalus: a case report. 61
31994420 2020
18
Tonsillectomy with modified reconstruction of the cisterna magna with and without craniectomy for the treatment of adult Chiari malformation type I with syringomyelia. 61
31897729 2020
19
Recrudescence of the syringomyelia after surgery of Chiari malformation type 1 with duraplasty. 61
31955615 2020
20
Comparison of Radiological Features and Clinical Characteristics in Scoliosis Patients With Chiari I Malformation and Idiopathic Syringomyelia: A Matched Study. 61
31730571 2019
21
Positive Outcome of Endoscopic Third Ventriculostomy in Fourth Ventricular Outlet Obstruction. 61
31479793 2019
22
Changing Perception but Unaltered Reality: How Effective Is C1-C2 Fixation for Chiari Malformations without Instability? 61
31899405 2019
23
«A case of a pharmacoresistant tachyarrhythmia associated with Arnold-Chiari malformation». 61
31556758 2019
24
Syringosubarachnoid shunt: insertion technique. 61
31852253 2019
25
Retethering after transection of a tight filum terminale, postoperative MRI may help to identify patients at risk. 61
31875245 2019
26
The Value and Limitation of Cervical Traction in the Evaluation of the Reducibility of Atlantoaxial Dislocation and Basilar Invagination Using the Intraoperative O-Arm. 61
31476460 2019
27
Jacqueline du Pré and her alternative diagnosis. 61
31542612 2019
28
The clinical efficacy study of treatment to Chiari malformation type I with syringomyelia under the minimally invasive surgery of resection of Submeningeal cerebellar Tonsillar Herniation and reconstruction of Cisterna magna. 61
31885484 2019
29
Neurosurgical Management of Lateral Meningocele Syndrome: A Clinical Update for the Pediatric Neurosurgeon. 61
31838470 2019
30
Syringomyelia in children with closed spinal dysraphism: long-term outcomes after surgical intervention. 61
31835253 2019
31
Arachnoiditis ossificans associated with syringomyelia: a case report. 61
29092643 2019
32
Safety and Efficacy of Syringoperitoneal Shunting with a Programmable Shunt Valve for Syringomyelia Associated with Extensive Spinal Adhesive Arachnoiditis: Technical Note. 61
31465850 2019
33
Chiari Malformation and Syringomyelia Associated with Hirayama Disease. 61
31881343 2019
34
Pregabalin alleviates clinical signs of syringomyelia-related central neuropathic pain in Cavalier King Charles Spaniel dogs: a randomized controlled trial. 61
32005620 2019
35
Twelve Years in Pain: Case Report on the Management of Complex Pain in Syringomyelia. 61
31775022 2019
36
Using machine learning to understand neuromorphological change and image-based biomarker identification in Cavalier King Charles Spaniels with Chiari-like malformation-associated pain and syringomyelia. 61
31552689 2019
37
Burkholderia cepacia complex infection complicating long-term urethral catheterisation. 61
31732540 2019
38
Chiari malformation and syringomyelia. 61
31675698 2019
39
Factors affecting long-term mortality rate after diagnosis of syringomyelia in disabled spinal cord injury patients: a population-based study. 61
31602006 2019
40
Dural Laceration Resulting in the Formation of Syringomyelia Caused by a Loosened Hydroxyapatite Intraspinous Spacer after Spinous Process-splitting Laminoplasty. 61
31592152 2019
41
Intraoperative neurophysiological monitoring in paediatric Chiari surgery-help or hindrance? 61
31346737 2019
42
Clinical diagnosis-part I: what is really caused by Chiari I. 61
31161267 2019
43
Chiari type I and hydrocephalus. 61
31227858 2019
44
Presyrinx Associated with Post-Traumatic Hydrocephalus Successfully Treated by Ventriculoperitoneal Shunt. 61
31720275 2019
45
Outcomes and complications for individual neurosurgeons for the treatment of Chiari I malformation at a children's hospital. 61
31127343 2019
46
Chiari I malformation in children-the natural history. 61
31363830 2019
47
Bony decompression vs duraplasty for Chiari I malformation: does the eternal dilemma matter? 61
31209642 2019
48
Chiari 1 malformation and untreated sagittal synostosis: a new subset of complex Chiari? 61
31327038 2019
49
"Management: opinions from different centers"-the Sankt Augustin experience. 61
31073681 2019
50
Charcot neuroarthropathy of the knee due to idiopathic sensory peripheral neuropathy. 61
31666060 2019

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 wound healing GO:0042060 9.13 NF1 FGFR2 COL1A1
2 positive regulation of endothelial cell proliferation GO:0001938 8.8 RICTOR NRAS NF1

Molecular functions related to Syringomyelia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 ZWINT ZBTB8OS VDR RICTOR PPP1R26 POC5

Sources for Syringomyelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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