MCID: SYR001
MIFTS: 44

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
SNOMED-CT 67 111496009
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 hydrocephalus and arachnoiditis, and has symptoms including seizures, tremor and back pain. An important gene associated with Syringomyelia is ACY1 (Aminoacylase 1). The drugs Hyaluronic acid and Viscosupplements have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and bone, and related phenotypes are behavior/neurological and cardiovascular system

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 425)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus 30.9 NRAS GFAP FGFR2 AQP4
2 arachnoiditis 30.8 RICTOR CYREN CRLF1 AQP4
3 scoliosis 30.3 VDR POC5 GH1 GFAP FGFR2 COL1A1
4 lumbosacral lipoma 30.1 RICTOR PES1
5 intracranial hypertension, idiopathic 29.9 GH1 AQP4
6 spinal cord disease 29.9 RICTOR GFAP AQP4
7 traumatic brain injury 29.8 GH1 GFAP AQP4
8 obstructive hydrocephalus 29.3 RICTOR GFAP CRLF1 AQP4
9 optic nerve disease 29.0 PES1 GFAP AQP4
10 syringomyelia, noncommunicating isolated 12.8
11 idiopathic syringomyelia 12.5
12 secondary syringomyelia 12.4
13 primary syringomyelia 12.4
14 familial syringomyelia 12.3
15 chiari malformation type i 11.8
16 hydromyelia 11.8
17 syringohydromyelia 11.8
18 chiari malformation 11.8
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 spinal arachnoiditis 10.8
27 spinal cord injury 10.7
28 arthropathy 10.6
29 syringobulbia 10.6
30 arachnoid cysts, intracranial 10.5
31 spasticity 10.5
32 idiopathic scoliosis 10.4
33 neurogenic arthropathy 10.4
34 paraplegia 10.4
35 tuberculous meningitis 10.4
36 meningioma, radiation-induced 10.4
37 meningioma, familial 10.4
38 spinal meningioma 10.4
39 secretory meningioma 10.4
40 lymphoplasmacyte-rich meningioma 10.4
41 meningitis 10.4
42 ataxia and polyneuropathy, adult-onset 10.4
43 lipomatosis, multiple 10.3
44 pleomorphic lipoma 10.3
45 hemangioblastoma 10.3
46 tuberculous epididymitis 10.3 VDR CD2AP
47 neural tube defects 10.3
48 spondylosis 10.3
49 benign ependymoma 10.3
50 cellular ependymoma 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, headache, syncope, pain, chronic pain, sciatica, vertigo/dizziness, sleeplessness

MGI Mouse Phenotypes related to Syringomyelia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ACY1 AQP4 COL1A1 CRLF1 FGFR2 GFAP
2 cardiovascular system MP:0005385 9.32 ACY1 AQP4 CD2AP COL1A1 CYREN FGFR2

Drugs & Therapeutics for Syringomyelia

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2 Viscosupplements Phase 4
3 Adjuvants, Immunologic Phase 4
4 Protective Agents Phase 4
5 Immunologic Factors Phase 4
6
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
7
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
8 Calcium, Dietary Phase 2
9 Hormones Phase 2
10
Calcium Nutraceutical Phase 2 7440-70-2 271
11
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
12 Trace Elements
13 Vitamins
14 Nutrients
15 Calciferol
16 Micronutrients

Interventional clinical trials:

(show all 15)
# 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 The Genetics of Chiari Type I Malformation (CMI) With or Without Syringomyelia Completed NCT01060800
6 Establishing the Pathophysiology of Primary Spinal Syringomyelia Completed NCT00011245
7 Characterization of At-risk Population and Prognosis Factors for SACRO-coccygeal Teratoma in CURRARINO Syndrome. A Clinical, Molecular and Pathological Study. Completed NCT00780117
8 Central Sensitization in Vitamin D Deficiency and Effect of Vitamin D Replacement on Cutaneous Silent Period Completed NCT03420378
9 Evaluating the Effectiveness of a Serious Game to Enhance Self-Management Skills Among Adolescents and Young Adults With Spinal Cord Dysfunction Completed NCT02341950
10 Genetic Analysis of the Chiari I Malformation Recruiting NCT00004738
11 Assessment of Cerebrospinal Fluid Flow Related Disorders Using a Phase-contrast Magnetic Resonance Imaging Technique. Recruiting NCT03656016
12 A Prospective Natural History Study of Syringomyelia or Associated Conditions Active, not recruiting NCT01150708
13 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Active, not recruiting NCT02669836
14 Investigation of the Effects of Different Exercise Programs on Patients With Chiari Malformation Type 1 Not yet recruiting NCT04220541
15 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, Skin, Testes

Publications for Syringomyelia

Articles related to Syringomyelia:

(show top 50) (show all 3541)
# Title Authors PMID Year
1
Persistent Syringomyelia After Posterior Fossa Decompression for Chiari Malformation. 61 42
32204297 2020
2
Tremor Caused by Dandy-Walker Syndrome Concomitant with Syringomyelia: Case Report and Review of the Literature Review. 61 42
31954915 2020
3
Chiari Malformation and Syringomyelia Associated with Hirayama Disease. 61 42
31881343 2020
4
Retethering after transection of a tight filum terminale, postoperative MRI may help to identify patients at risk. 61
31875245 2020
5
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
6
Comparison of surgical outcomes in patients with Chiari Type I malformation receiving posterior fossa decompression with and without duraplasty. 61
32451665 2020
7
Chiari 1 formation- redefined- Clinical and radiographic observations in 388 surgically treated cases. 61
32562905 2020
8
Clinicoradiographic data and management of children with Chiari malformation type 1 and 1.5: an Italian case series. 61
32524535 2020
9
Repeat Craniocervical Decompression in Patients with a Persistent or Worsening Syrinx: A Preliminary Report and Early Results. 61
32059967 2020
10
Cervical Abnormalities in Severe Spinal Deformity: A 10-year MRI Review. 61
32351029 2020
11
Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition. 61
32337341 2020
12
Surgical Scoliosis Correction in Chiari-I Malformation with Syringomyelia Versus Idiopathic Syringomyelia. 61
32530873 2020
13
Ultrasound-guided Syringosubarachnoid Shunt Insertion for Cervicothoracic Syringomyelia. 61
31220040 2020
14
Syringomyelia in Patient with Concurrent Posttraumatic Hydrocephalus and Tethered Spinal Cord: Implications for Surgical Management. 61
32156596 2020
15
Posterior spinal fusion for severe kyphoscoliosis in a Loeys-Dietz syndrome patient with a large syringomyelia. 61
32327376 2020
16
The Filum disease and the Neuro-Cranio-vertebral syndrome: definition, clinical picture and imaging features. 61
32393196 2020
17
Resection of hip heterotrophic ossification leads to resolution of autonomic nervous system dysfunction in a patient with spinal Charcot arthropathy: a case report. 61
32404876 2020
18
"Two-Birds-One-Stone" Approach for Treating an Infant with Chiari I Malformation and Hydrocephalus: Is Cerebrospinal Fluid Diversion as Sole Treatment Enough? 61
32028005 2020
19
Erratum for Dorsal Compressive Atlantoaxial Bands and the Craniocervical Junction Syndrome: Association with Clinical Signs and Syringomyelia in Mature Cavalier King Charles Spaniels. 61
32463986 2020
20
Perioperative Halo-Gravity Traction in the Treatment of Scoliosis with Intraspinal Anomalies. 61
32407918 2020
21
Additional Assessment of Developed Occipital Sinus Using Intraoperative Indocyanine Green Videoangiography for a Safe Foramen Magnum Decompression-Technical Case Report. 61
32421802 2020
22
Syringomyelia as a delayed complication of lumbar-sacral adhesive arachnoiditis in Pott's disease. 61
32467119 2020
23
Erratum. 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. 61
32442966 2020
24
Prevalence and Impact of Underlying Diagnosis and Comorbidities on Chiari 1 Malformation. 61
32113729 2020
25
Syringomyelia in the Tethered Spinal Cords. 61
32336060 2020
26
Communicating Syringomyelia. 61
32434025 2020
27
[Syncytial intramedullary meningioma associated with cervical syringomyelia]. 61
32329048 2020
28
Medical infrared thermal imaging of syringomyelia in the Cavalier King Charles Spaniel. 61
32410627 2020
29
[Cerebrospinal fluid flow dynamics and the potential of phase-contrast MRI in syringomyelia]. 61
32515330 2020
30
Hindbrain-related syringomyelia and raised intra-abdominal pressure: implications for safety of laparoscopic and robotic surgery. 61
32469337 2020
31
Holocord Syrinx Associated with Shunt Malfunction in Tetraventricular Hydrocephalus. 61
32348890 2020
32
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
33
Syringo-Subarachnoid Shunt Placement: A Minimally Invasive Technique Using Fixed Tubular Retractors-Three Case Reports and Literature Review. 61
32355617 2020
34
Effects of growth hormone therapy in pediatric patients with growth hormone deficiency and Chiari I malformation: a retrospective study. 61
31502034 2020
35
Changing Perception but Unaltered Reality: How Effective Is C1-C2 Fixation for Chiari Malformations without Instability? 61
31899405 2020
36
Posterior Calvarial Augmentation for Chiari Malformation Type 1 Refractory to Foramen Magnum Decompression. 61
32298820 2020
37
Minimally invasive foramen magnum durectomy and obexostomy for treatment of craniocervical junction-related syringomyelia in adults: case series and midterm follow-up. 61
32302978 2020
38
Radiological and clinical associations with scoliosis outcomes after posterior fossa decompression in patients with Chiari malformation and syrinx from the Park-Reeves Syringomyelia Research Consortium. 61
32276246 2020
39
Timing of syrinx reduction and stabilization after posterior fossa decompression for pediatric Chiari malformation type I. 61
32330878 2020
40
Surgical outcomes by sectioning a filum terminale in patients with terminal syringomyelia. 61
32318892 2020
41
Comparison of high-field MRI and multidetector CT for grading Chiari-like malformation and syringomyelia in Cavalier King Charles Spaniels. 61
32329949 2020
42
Obex position is associated with syringomyelia and use of posterior fossa decompression among patients with Chiari I malformation. 61
32276247 2020
43
Factors affecting long-term mortality rate after diagnosis of syringomyelia in disabled spinal cord injury patients: a population-based study. 61
31602006 2020
44
Resolution of Tonsillar Herniation and Syringomyelia Following Resection of a Large Anterior Frontal Parasagittal Meningioma. 61
32399368 2020
45
Chiari I malformations with syringomyelia: long-term results of neurosurgical decompression. 61
31933098 2020
46
Ten-Segment Intramedullary Ependymoma and Whole Spinal Syringomyelia. 61
32251824 2020
47
Terminal syringomyelia associated with lumbar limited dorsal myeloschisis. 61
31317225 2020
48
Resolution of isolated syringomyelia after removing thoracic disc herniation. 61
29316818 2020
49
Syringomyelia with left knee charcot arthropathy: a case report. 61
29405778 2020
50
Continuous Hypodynamic Change of Cerebrospinal Fluid Flow as A Potential Factor Working for Experimental Scoliotic Formation. 61
32321986 2020

Variations for Syringomyelia

Expression for Syringomyelia

Search GEO for disease gene expression data for Syringomyelia.

Pathways for Syringomyelia

GO Terms for Syringomyelia

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

# Name GO ID Score Top Affiliating Genes
1 astrocyte end-foot GO:0097450 8.62 GFAP AQP4

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of keratinocyte proliferation GO:0010839 8.62 VDR FGFR2

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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