MCID: SYR001
MIFTS: 47

Syringomyelia

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

Aliases & Classifications for Syringomyelia

MalaCards integrated aliases for Syringomyelia:

Name: Syringomyelia 12 74 20 53 36 29 42 44 15 71

Classifications:



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Disease Ontology 12 DOID:327
KEGG 36 H01675
MeSH 44 D013595
NCIt 50 C85179
SNOMED-CT 67 155020007
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 traumatic brain injury and scoliosis, 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 Neuroscience and Spinal Cord Injury. Affiliated tissues include spinal cord, brain and cerebellum, and related phenotypes are behavior/neurological and digestive/alimentary

GARD : 20 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 438)
# Related Disease Score Top Affiliating Genes
1 traumatic brain injury 30.2 GFAP AQP4
2 scoliosis 30.0 VDR POC5 NF1 GH1 GFAP GDF3
3 spinal cord disease 30.0 NF1 GFAP AQP4
4 obstructive hydrocephalus 29.9 NF1 GFAP AQP4
5 subependymoma 29.9 GFAP AQP4
6 pilocytic astrocytoma 29.8 NRAS NF1 GFAP
7 bone resorption disease 29.8 VDR COL1A1 CALCA
8 paraganglioma 29.4 NF1 GFAP CALCA
9 bone disease 29.3 VDR FGFR2 COL1A1 CALCA
10 peripheral nervous system disease 29.2 NF1 GFAP CALCA AQP4
11 syringomyelia, noncommunicating isolated 11.7
12 hydromyelia 11.3
13 chiari malformation 11.3
14 syringohydromyelia 11.2
15 primary syringomyelia 11.2
16 chiari malformation type i 11.1
17 idiopathic syringomyelia 11.1
18 secondary syringomyelia 11.1
19 chiari malformation type ii 11.0
20 melanosis, neurocutaneous 11.0
21 familial syringomyelia 11.0
22 tethered spinal cord syndrome 11.0
23 basilar impression, primary 10.9
24 toe syndactyly, telecanthus, and anogenital and renal malformations 10.9
25 aminoacylase 1 deficiency 10.9
26 hydrocephalus 10.7
27 spinal arachnoiditis 10.7
28 arachnoiditis 10.7
29 spinal cord injury 10.6
30 arthropathy 10.5
31 syringobulbia 10.5
32 arachnoid cysts, intracranial 10.5
33 idiopathic scoliosis 10.4
34 spasticity 10.4
35 neurogenic arthropathy 10.4
36 paraplegia 10.4
37 tuberculous meningitis 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 10.3
43 myelomeningocele 10.3
44 lipomatosis, multiple 10.3
45 pleomorphic lipoma 10.3
46 hepatocellular clear cell carcinoma 10.3 VDR FGFR2
47 ataxia and polyneuropathy, adult-onset 10.3
48 benign ependymoma 10.3
49 cellular ependymoma 10.3
50 neural tube defects 10.2

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ACY1 AQP4 ARHGAP17 COL1A1 FGFR2 GFAP
2 digestive/alimentary MP:0005381 9.76 AQP4 ARHGAP17 COL1A1 FGFR2 GFAP NF1
3 hearing/vestibular/ear MP:0005377 9.43 AQP4 COL1A1 FGFR2 GDF6 NF1 VDR
4 pigmentation MP:0001186 9.02 ACY1 COL1A1 FGFR2 NF1 NRAS

Drugs & Therapeutics for Syringomyelia

Interventional clinical trials:


# 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 Establishing the Pathophysiology of Primary Spinal Syringomyelia Completed NCT00011245
3 Genetic Analysis of the Chiari I Malformation Completed NCT00004738
4 The Genetics of Chiari Type I Malformation (CMI) With or Without Syringomyelia Completed NCT01060800
5 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Completed NCT02669836
6 Establishing the Physiology of Syringomyelia Completed NCT00001327
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 Evaluating the Effectiveness of a Serious Game to Enhance Self-Management Skills Among Adolescents and Young Adults With Spinal Cord Dysfunction Completed NCT02341950
9 Investigation of the Effects of Different Exercise Programs on Patients With Chiari Malformation Type 1 Completed NCT04220541
10 A Prospective Natural History Study of Patients With Syringomyelia Active, not recruiting NCT01150708

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, Cerebellum, Bone Marrow, Tonsil, Eye, Pons

Publications for Syringomyelia

Articles related to Syringomyelia:

(show top 50) (show all 3645)
# Title Authors PMID Year
1
Treatment of posttraumatic syringomyelia: evidence from a systematic review. 61 42
32820376 2020
2
Teaching NeuroImages: A large spinal cord syringomyelia associated with arachnoid web formation. 61 42
32651301 2020
3
MINIMALLY INVASIVE TREATMENT OF IDIOPATHIC SYRINGOMYELIA USING MYRINGOTOMY T-TUBES: A CASE REPORT AND TECHNICAL NOTE. 42 61
32724291 2020
4
Management of Chiari malformation type I and syringomyelia during pregnancy and delivery. 61
33157323 2021
5
Outcome of Surgery for Congenital Craniovertebral Junction Anomalies with Atlantoaxial Dislocation/Basilar Invagination: A Retrospective Study of 94 Patients. 61
33096283 2021
6
ETV for successful treatment of holocord syrinx with hydrocephalus: a case report. 61
31994420 2021
7
The 270° Circumferential Microsurgical Decompression of the Foramen Magnum in Adult Chiari Malformation Type I: Single Surgeon Series of 130 Patients with Syringomyelia, Neurologic, and Headache Outcomes. 61
33249219 2021
8
Reintervention rate of arachnolysis versus shunting for nonforaminal syringomyelia. 61
33545681 2021
9
Spondylotic and Other Structural Myelopathies. 61
33522741 2021
10
A novel classification and its clinical significance in Chiari I malformation with syringomyelia based on high-resolution MRI. 61
33544223 2021
11
Is C1-C2 Reduction and Fixation A Good Choice in the Treatment of Recurrent Chiari-Like Symptoms With Syringomyelia? 61
33189921 2021
12
One-Year Outcomes of Chiari Type 1 Malformation and Syringomyelia Treated With Posterior Fossa Decompression. 61
33605611 2021
13
Dural augmentation approaches and complication rates after posterior fossa decompression for Chiari I malformation and syringomyelia: a Park-Reeves Syringomyelia Research Consortium study. 61
33578390 2021
14
Radiological outcome after surgical treatment of syringomyelia-Chiari I complex in adults: a systematic review and meta-analysis. 61
31953784 2021
15
Cerebrospinal fluid flow in normal beagle dogs analyzed using magnetic resonance imaging. 61
33522154 2021
16
Cerebrospinal fluid flow on time-spatial labeling inversion pulse images before and after treatment of congenital hydrocephalus in a dog. 61
33421205 2021
17
The relationship between Chiari 1.5 malformation and sleep-related breathing disorders on polysomnography. 61
33513576 2021
18
Exploring the potential of RhoA inhibitors to improve exercise-recoverable spinal cord injury: A systematic review and meta-analysis. 61
33197553 2021
19
Transplantation of Human Neural Precursor Cells Reverses Syrinx Growth in a Rat Model of Post-Traumatic Syringomyelia. 61
33469829 2021
20
Scoliosis with Chiari I malformation without associated syringomyelia. 61
33471302 2021
21
Acute development of syringomyelia following TBM in a pediatric case. 61
33446125 2021
22
Multilevel Hemilaminotomy Windows for the Surgical Management of Spinal Epidural Lipomatosis Causing Syringomyelia: Technical Note and Literature Review. 61
33412315 2021
23
Clinical Image of a Spinal Ependymoma Discovered 8 Years after Initial Misdiagnosis as an Idiopathic Syringomyelia. 61
33022432 2021
24
Symptom outcome after craniovertebral decompression for Chiari type 1 malformation without syringomyelia. 61
33130986 2021
25
Association between filum terminale internum length and pain in Cavalier King Charles spaniels with and without syringomyelia. 61
33426675 2021
26
Occipital-Cervical Fusion and Ventral Decompression in the Surgical Management of Chiari-1 Malformation and Syringomyelia: Analysis of Data From the Park-Reeves Syringomyelia Research Consortium. 61
33313928 2021
27
[Treatment of syringomyelia in patients with arachnopathy within craniovertebral junction]. 61
33560616 2021
28
The prevalence of scoliosis within Belgian myelomeningocele population and the correlation with ambulatory status and neurological comorbidities: a chart audit. 61
33495580 2021
29
Long-level intramedullary spinal cord astrocytoma complicated with spine scoliosis: Report of two cases. 61
33485173 2021
30
Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature. 61
33492467 2021
31
The impact of neurosurgical technique on the short- and long-term outcomes of adult patients with Chiari I malformation. 61
33387726 2021
32
Cough syncope and hyperventilation-induced convulsion in Chiari 1.5 malformation. 61
33389244 2021
33
Rare and de novo coding variants in chromodomain genes in Chiari I malformation. 61
33352116 2021
34
Chiari Malformation Type 1 and Syringomyelia in a Patient With Prior Surgically-Treated Sagittal Synostosis Effectively Treated With Posterior Cranial Vault Distraction Osteogenesis. 61
33405455 2021
35
Atlantoaxial Instability as a Cause of Craniovertebral and Cervical Spinal Alterations and Dorsal Kyphoscoliosis. 61
32777402 2020
36
Outcomes of Dura Splitting Decompression Versus Posterior Fossa Decompression With Duraplasty in the Treatment of Chiari I Malformation: A Systematic Review and Meta-analysis. 61
33290896 2020
37
Coexisting Retrocerebellar Arachnoid Cyst and Chiari Type 1 Malformation: 3 Pediatric Cases of Surgical Management Tailored to the Pathogenic Mechanism and Systematic Review of the Literature. 61
33385608 2020
38
Recrudescence of the syringomyelia after surgery of Chiari malformation type 1 with duraplasty. 61
31955615 2020
39
Posterior Fossa Decompression and superficial durotomy rather than complete durotomy and duraplasty in the management of Chiari 1. 61
33357109 2020
40
Effectiveness of the Chiari Health Index for Pediatrics instrument in measuring postoperative health-related quality of life in pediatric patients with Chiari malformation type I. 61
33276337 2020
41
Rapid deterioration of an asymptomatic lumbosacral lipoma due to formation of an extracanalicular syrinx: case report. 61
33361476 2020
42
Surgical outcomes by sectioning a filum terminale in patients with terminal syringomyelia. 61
32318892 2020
43
Atlantoaxial dislocation with congenital "sandwich fusion" in the craniovertebral junction: a retrospective case series of 70 patients. 61
33287792 2020
44
Myelopexy: A novel technique in posttraumatic syringomyelia. 61
33317923 2020
45
Letter to the Editor Regarding "Chiari Malformation and Syringomyelia Associated with Hirayama Disease". 61
33227878 2020
46
In Reply to the Letter to the Editor Regarding "Chiari Formation and Syringomyelia Associated with Hirayama Disease". 61
33227879 2020
47
Paroxysmal rhythmic pelvic movements: an unusual paediatric presentation of Chiari I malformation with syringomyelia. 61
33000420 2020
48
Syringomyelia Resolution Following Chiari Surgery: A Novel Scale for Communication and Research. 61
32779709 2020
49
Intradural Pathology Causing Cerebrospinal Fluid Obstruction in Syringomyelia and Effectiveness of Foramen Magnum and Foramen of Magendie Dredging Treatment. 61
32805463 2020
50
Resolution of type I Chiari malformation and associated syringomyelia following intrathecal chemotherapy: case report. 61
33276330 2020

Variations for Syringomyelia

Expression for Syringomyelia

Search GEO for disease gene expression data for Syringomyelia.

Pathways for Syringomyelia

Pathways related to Syringomyelia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.16 RTN4 NF1 GFAP CALCA
2 11.51 RTN4 GFAP AQP4
3 11.15 NRAS GH1 GDF6 FGFR2
4 10.45 VDR COL1A1 CALCA
5 10.26 GH1 GFAP GDF6 FGFR2 COL1A1

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 8.96 VDR FGFR2
2 wound healing GO:0042060 8.8 NF1 FGFR2 COL1A1

Sources for Syringomyelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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