MCID: SYR001
MIFTS: 50

Syringomyelia

Categories: Rare diseases, Neuronal diseases, Fetal diseases, Genetic 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 syringomyelia, noncommunicating isolated and idiopathic syringomyelia, and has symptoms including back pain, headache and 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 skin, and related phenotypes are digestive/alimentary and endocrine/exocrine gland

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 181)
# Related Disease Score Top Affiliating Genes
1 syringomyelia, noncommunicating isolated 12.2
2 idiopathic syringomyelia 12.1
3 secondary syringomyelia 12.1
4 primary syringomyelia 12.1
5 familial syringomyelia 12.0
6 chiari malformation type i 11.5
7 hydromyelia 11.3
8 chiari malformation 11.3
9 melanosis, neurocutaneous 11.3
10 chiari malformation type ii 11.2
11 myelomeningocele 11.2
12 tethered spinal cord syndrome 11.2
13 syringohydromyelia 11.0
14 basilar impression, primary 10.8
15 toe syndactyly, telecanthus, and anogenital and renal malformations 10.8
16 aminoacylase 1 deficiency 10.8
17 arachnoiditis 10.4
18 primary biliary cholangitis 10.4 NRAS VDR
19 cervicitis 10.4
20 melanomatosis 10.4 CWC22 NRAS
21 type i 10.4
22 scoliosis 10.3
23 meningeal melanomatosis 10.3 CWC22 NRAS
24 van buchem disease 10.3 COL1A1 VDR
25 malignant conjunctival melanoma 10.3 CD2AP NRAS
26 meningeal melanocytoma 10.3 CWC22 NRAS
27 hydrocephalus 10.3
28 syringobulbia 10.2
29 central nervous system melanocytic neoplasm 10.2 CWC22 NRAS
30 sclerosteosis 10.2 COL1A1 VDR
31 spinal arachnoiditis 10.2
32 arachnoid cysts 10.2
33 arthropathy 10.2
34 bone resorption disease 10.2 COL1A1 VDR
35 bone development disease 10.1 COL1A1 FGFR2
36 meningitis 10.1
37 hypertelorism 10.0 COL1A1 FGFR2
38 spondylosis 10.0
39 hemangioblastoma 10.0
40 bone disease 10.0 COL1A1 FGFR2 VDR
41 multiple sclerosis 10.0
42 spinal cord injury 10.0
43 idiopathic scoliosis 9.9
44 dandy-walker complex 9.9
45 ependymoma 9.9
46 tuberculous meningitis 9.9
47 medulloblastoma 9.9
48 scoliosis, isolated 1 9.9
49 tangier disease 9.9
50 peritonitis 9.9

Graphical network of the top 20 diseases related to Syringomyelia:



Diseases related to Syringomyelia

Symptoms & Phenotypes for Syringomyelia

UMLS symptoms related to Syringomyelia:


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

MGI Mouse Phenotypes related to Syringomyelia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.55 AQP4 COL1A1 FGFR2 NRAS VDR
2 endocrine/exocrine gland MP:0005379 9.43 AQP4 CD2AP COL1A1 FGFR2 NRAS VDR
3 renal/urinary system MP:0005367 9.02 AQP4 CD2AP COL1A1 FGFR2 VDR

Drugs & Therapeutics for Syringomyelia

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

(show all 7)
# 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 Antibodies
6 Antibodies, Antiphospholipid
7 Immunoglobulins

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, Skin, Testes, Pituitary, Bone, Tonsil

Publications for Syringomyelia

Articles related to Syringomyelia:

(show top 50) (show all 918)
# 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
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
26
Dorsal hemangioblastoma manifesting as holocord syringomyelia. ( 29721352 )
2018
27
MRI characteristics for "phantom" scratching in canine syringomyelia. ( 29145838 )
2017
28
An Atypical Clinical Presentation of Post-traumatic Syringomyelia: A Case Report and Brief Review of the Literature. ( 29372126 )
2017
29
Spontaneous resolution of syringomyelia in Chiari I malformation: A review of literature. ( 28879935 )
2017
30
Long term outcome of surgical treatment of Chiari Malformation without syringomyelia. ( 28677937 )
2017
31
Syringomyelia Fluid Dynamics and Cord Motion Revealed by Serendipitous Null Point Artifacts during Cine MRI. ( 28751514 )
2017
32
Use of Morphometric Mapping to Characterise Symptomatic Chiari-Like Malformation, Secondary Syringomyelia and Associated Brachycephaly in the Cavalier King Charles Spaniel. ( 28122014 )
2017
33
Endoscopic Management of Arnold-Chiari Malformation Type I with or without Syringomyelia. ( 28586935 )
2017
34
Spontaneous regression of post-traumatic syringomyelia: A case report and literature review. ( 28712735 )
2017
35
Syringomyelia without tonsillar herniation-cisterna magna herniation a cause? ( 28676979 )
2017
36
Pathogenesis of Chiari I - Pathophysiology of Syringomyelia: Implications for Therapy: A Summary of 3 Decades of Clinical Research. ( 28899066 )
2017
37
Intradural pathology and pathophysiology associated with Chiari I malformation in children and adults with and without syringomyelia. ( 29027876 )
2017
38
Spinal cord stimulation for a patient with neuropathic pain related to congenital syringomyelia. ( 28757924 )
2017
39
Chiari I malformation and syringomyelia in mucopolysaccharidosis type I (Hurler syndrome) treated with posterior fossa decompression: Case report and review of the literature. ( 28607814 )
2017
40
Syringomyelia associated with cervical spondylotic myelopathy causing canal stenosis. A rare association. ( 28844366 )
2017
41
"Stealth cranioplasty:" A novel endeavor for symptomatic adult Chiari I patients with syringomyelia: Technical note, appraisal, and philosophical considerations. ( 29021676 )
2017
42
Acquired Chiari I Malformation with Syringomyelia secondary to Colloid cyst with Hydrocephalus - Case report and review of literature. ( 28899831 )
2017
43
Cell Therapy as a New Approach to the Treatment of Posttraumatic Syringomyelia. ( 28804041 )
2017
44
Syringomyelia associated to rheumatoid-atlantoaxial subluxation: about a new case. ( 29541304 )
2017
45
Syringo-Subarachnoid Shunt for the Treatment of Persistent Syringomyelia Following Decompression for Chiari Type I Malformation: Surgical Results. ( 28807779 )
2017
46
Treatment of syringomyelia in patients with arachnoiditis at the cranio-cervical junction. ( 28842236 )
2017
47
Chari 1 Malformation with Scoliosis and Holocord Syringomyelia: A Rare Association. ( 29675087 )
2017
48
Surgical Management of Syringomyelia Associated with Spinal Adhesive Arachnoiditis, a Late Complication of Tuberculous Meningitis: A Case Report. ( 28512616 )
2017
49
Delayed Presentation of Isolated Sagittal Synostosis With Raised Intracranial Pressure and Secondary Chiari Malformation With Cervical Syringomyelia. ( 28582306 )
2017
50
Pan, Syrinx and syringomyelia. ( 29236893 )
2017

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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