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 75 53 54 37 29 43 44 15 72

Classifications:



External Ids:

Disease Ontology 12 DOID:327
KEGG 37 H01675
MeSH 44 D013595
NCIt 50 C85179
UMLS 72 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 bone resorption disease 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 p70S6K Signaling. The drugs Hyaluronic acid and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and bone, and related phenotypes are cardiovascular system and 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.

KEGG : 37
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 : 75 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 bone resorption disease 29.9 VDR COL1A1
2 traumatic brain injury 29.6 GH1 AQP4
3 bone disease 29.3 VDR FGFR2 COL1A1
4 syringomyelia, noncommunicating isolated 12.8
5 idiopathic syringomyelia 12.4
6 secondary syringomyelia 12.4
7 primary syringomyelia 12.4
8 familial syringomyelia 12.3
9 obsolete: primary syringomyelia/hydromyelia 12.2
10 obsolete: posttraumatic syringomyelia 12.2
11 chiari malformation type i 11.8
12 chiari malformation 11.8
13 hydromyelia 11.7
14 syringohydromyelia 11.6
15 melanosis, neurocutaneous 11.6
16 chiari malformation type ii 11.6
17 myelomeningocele 11.5
18 basilar impression, primary 11.5
19 toe syndactyly, telecanthus, and anogenital and renal malformations 11.2
20 aminoacylase 1 deficiency 11.2
21 tethered spinal cord syndrome 11.2
22 hydrocephalus 10.8
23 congenital hydrocephalus 10.8
24 scoliosis 10.8
25 spinal arachnoiditis 10.8
26 arachnoiditis 10.8
27 spinal cord injury 10.7
28 arthropathy 10.6
29 syringobulbia 10.6
30 arachnoid cysts 10.5
31 spasticity 10.5
32 idiopathic scoliosis 10.4
33 neurogenic arthropathy 10.4
34 paraplegia 10.4
35 rare surgical neurologic disease 10.4
36 tuberculous meningitis 10.4
37 meningioma, radiation-induced 10.4
38 meningioma, familial 10.4
39 spinal meningioma 10.4
40 secretory meningioma 10.4
41 lymphoplasmacyte-rich meningioma 10.4
42 meningitis 10.4
43 ataxia and polyneuropathy, adult-onset 10.4
44 hemangioblastoma 10.3
45 spondylosis 10.3
46 lipomatosis, multiple 10.3
47 neural tube defects 10.3
48 pleomorphic lipoma 10.3
49 benign ependymoma 10.3
50 muscular atrophy 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

MGI Mouse Phenotypes related to Syringomyelia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 AQP4 COL1A1 FGFR2 NRAS RICTOR VDR
2 digestive/alimentary MP:0005381 9.65 AQP4 COL1A1 FGFR2 NRAS VDR
3 endocrine/exocrine gland MP:0005379 9.63 AQP4 COL1A1 FGFR2 NRAS RICTOR VDR
4 hearing/vestibular/ear MP:0005377 9.26 AQP4 COL1A1 FGFR2 VDR
5 renal/urinary system MP:0005367 9.02 AQP4 COL1A1 FGFR2 RICTOR VDR

Drugs & Therapeutics for Syringomyelia

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2 Immunologic Factors Phase 4
3 Adjuvants, Immunologic Phase 4
4 Protective Agents Phase 4
5 Viscosupplements Phase 4
6
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
7
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
8
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
9 Hormones Phase 2
10 Calcium, Dietary Phase 2
11 Bone Density Conservation Agents Phase 2
12 Hormone Antagonists Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
14
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
15
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
16 Micronutrients
17 Vitamins
18 Nutrients
19 Vitamin D2
20 Trace Elements
21 Ergocalciferols
22 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 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:

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

Publications for Syringomyelia

Articles related to Syringomyelia:

(show top 50) (show all 3424)
# Title Authors PMID Year
1
Screw view model of navigation in posterior corrective surgery for adolescent idiopathic scoliosis: A case report and technique note. 38 17
30896624 2019
2
Intradural Extramedullary Epidermoid Cyst at the Conus Medullaris Level with Thoracic Syringomyelia: A Case Report. 38 17
30931896 2019
3
Early Syringomyelia in Tubercular Meningitis. 38 17
31317721 2018
4
Spontaneous resolution of syringomyelia secondary to cranio-cervical junction stenosis in a patient with achondroplasia. 38
31127341 2019
5
Thoracic Meningocele and Cervical Syringomyelia Treated with Ventriculoperitoneal Shunt. 38
31152885 2019
6
Epidural Lipomatosis and Syringomyelia in Adulthood: Case Report and Literature Review. 38
31228704 2019
7
Treatment failure of syringomyelia associated with Chiari I malformation following foramen magnum decompression: how should we proceed? 38
30554294 2019
8
Recognising the signs of Chiari-like malformation-associated pain. 38
31395706 2019
9
Hydrocephalus after foramen magnum decompression for Chiari I malformation successfully treated with the aspiration of pseudomeningocele: a case report. 38
31383038 2019
10
Acute presentations of intradural lipomas: case reports and a review of the literature. 38
31395022 2019
11
Radiological and clinical predictors of scoliosis in patients with Chiari malformation type I and spinal cord syrinx from the Park-Reeves Syringomyelia Research Consortium. 38
31419800 2019
12
Pregabalin for the treatment of syringomyelia-associated neuropathic pain in dogs: A randomised, placebo-controlled, double-masked clinical trial. 38
31383420 2019
13
CSF omeprazole concentration and albumin quotient following high dose intravenous omeprazole in dogs. 38
31326702 2019
14
Signs consistent with syringobulbia may be detected in dogs undergoing MRI. 38
30887625 2019
15
Cervical hyperaesthesia in dogs: an epidemiological retrospective study of 185 cases. 38
30868604 2019
16
Intraoperative neurophysiological monitoring in paediatric Chiari surgery-help or hindrance? 38
31346737 2019
17
Recovery of Transcranial Motor Evoked Potentials After Atlantoaxial Stabilization for Chiari Formation: Report of 20 Cases. 38
30947011 2019
18
Chiari I malformation in children-the natural history. 38
31363830 2019
19
Disproportionately large communicating fourth ventricle: two case reports. 38
31325957 2019
20
Dynamic cerebellar herniation in Chiari patients during the cardiac cycle evaluated by dynamic magnetic resonance imaging. 38
31053886 2019
21
Chiari 1 malformation and untreated sagittal synostosis: a new subset of complex Chiari? 38
31327038 2019
22
Spontaneous Resolution of Syringomyelia with a 16-Year Serial Magnetic Resonance Imaging Follow-Up: A Case Report and Literature Review. 38
31351204 2019
23
Significance of Modified Clivoaxial Angles in the Treatment of Adult Chiari Malformation Type I. 38
31306845 2019
24
Behavioral and clinical signs of Chiari-like malformation-associated pain and syringomyelia in Cavalier King Charles spaniels. 38
31290195 2019
25
Terminal syringomyelia associated with lumbar limited dorsal myeloschisis. 38
31317225 2019
26
The influence of concomitant syringomyelia on patient reported outcome following hind brain decompression. 38
31304794 2019
27
Cine balanced fast field echo magnetic resonance imaging of canine spinal arachnoid diverticulae pulsation. 38
31113570 2019
28
Bony decompression vs duraplasty for Chiari I malformation: does the eternal dilemma matter? 38
31209642 2019
29
A Review of a New Clinical Entity of 'Central Atlantoaxial Instability': Expanding Horizons of Craniovertebral Junction Surgery. 38
31261452 2019
30
Chiari type I and hydrocephalus. 38
31227858 2019
31
A novel fixation technique using anterior C1 screw in a pediatric solitary cervical spinal juvenile xanthogranuloma. 38
30771048 2019
32
The effects of variation in the arterial pulse waveform on perivascular flow. 38
31047694 2019
33
Clinical diagnosis-part I: what is really caused by Chiari I. 38
31161267 2019
34
Anterior Retropharyngeal Cage Distraction and Fixation for Basilar Invagination: "The Wedge Technique". 38
31261468 2019
35
Proteolytic Rafts for Improving Intraparenchymal Migration of Minimally Invasively Administered Hydrogel-Embedded Stem Cells. 38
31238564 2019
36
Syringomyelia-Associated Dystonia: Case Series, Literature Review, and Novel Insights. 38
31286008 2019
37
Ultrasound-guided Syringosubarachnoid Shunt Insertion for Cervicothoracic Syringomyelia. 38
31220040 2019
38
Spinal subarachnoid space tapering in patients with syringomyelia. 38
31159654 2019
39
Opinion for different centers: surgical experience with Chiari malformation type I in children at Xuanwu Hospital, China. 38
31214817 2019
40
Posterior fossa decompression for Chiari malformation type I: clinical and radiological presentation, outcome and complications in a retrospective series of 105 procedures. 38
30737652 2019
41
The Transspinal Canal Screwing Technique for Atlantoaxial Anomalies: A Technical Note and 2 Case Reports. 38
30653912 2019
42
Clinical analysis of syringomyelia resulting from spinal hemangioblastoma in a single series of 38 consecutive patients. 38
30999208 2019
43
Update on the pathophysiology and management of syringomyelia unrelated to Chiari malformation. 38
27939111 2019
44
Short- and long-term outcome and magnetic resonance imaging findings after surgical treatment of thoracolumbar spinal arachnoid diverticula in 25 Pugs. 38
30844093 2019
45
"Management: opinions from different centers"-the Sankt Augustin experience. 38
31073681 2019
46
Outcomes and complications for individual neurosurgeons for the treatment of Chiari I malformation at a children's hospital. 38
31127343 2019
47
Fibrous dysplasia of occipital and temporal bone. A case report. 38
31198575 2019
48
Management of Chiari malformations: opinions from different centers-a review. 38
31127344 2019
49
Craniometrical imaging and clinical findings of adult Chiari malformation type 1 before and after posterior fossa decompression surgery with duraplasty. 38
31096790 2019
50
[Three Cases of Small Hemangioblastoma with a Large Syringomyelia]. 38
31105082 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 cellular response to transforming growth factor beta stimulus GO:0071560 9.26 FGFR2 COL1A1
2 response to nutrient levels GO:0031667 9.16 GH1 COL1A1
3 skeletal system morphogenesis GO:0048705 8.96 FGFR2 COL1A1
4 cellular response to fibroblast growth factor stimulus GO:0044344 8.62 FGFR2 COL1A1

Sources for Syringomyelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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