MCID: SYR010
MIFTS: 37

Syringomyelia, Noncommunicating Isolated

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Syringomyelia, Noncommunicating Isolated

MalaCards integrated aliases for Syringomyelia, Noncommunicating Isolated:

Name: Syringomyelia, Noncommunicating Isolated 56
Syringomyelia 58
Hydromyelia 58

Characteristics:

Orphanet epidemiological data:

58
syringomyelia
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
many cases are asymptomatic
onset of symptoms in second or third decade


HPO:

31
syringomyelia, noncommunicating isolated:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 186700
MESH via Orphanet 44 D013595
ICD10 via Orphanet 33 G95.0 Q06.4
UMLS via Orphanet 72 C0039144 C0152444 C1861301
Orphanet 58 ORPHA3280
MedGen 41 C4538540

Summaries for Syringomyelia, Noncommunicating Isolated

OMIM : 56 Syringomyelia (Greek: 'syrinx,' pipe, and 'myelos,' marrow) is a tubular cavity in the spinal cord. It can occur sporadically in association with spinal cord tumors, inflammatory arachnoiditis, or posttraumatically. It is rarely idiopathic (less than 1% of cases). The vast majority of cases of syringomyelia are cervical, noncommunicating, and associated with an abnormality at the foramen magnum, particularly the Chiari malformation type I (CM1; 118420), as well as basilar impression (109500) and Dandy-Walker malformation (220200) (Speer et al., 2003; Levine, 2004); these cases have shown familial segregation. The form of syringomyelia discussed here is 'noncommunicating' with the fourth ventricle, but may communicate with the subarachnoid space. In contrast, 'communicating' syringomyelia, or 'hydromelia,' opens rostrally into the fourth ventricle and almost always occurs in children with hydrocephalus, Chiari malformation type II (CM2; 207950), and spina bifida (see 182940) (Levine, 2004). (186700)

MalaCards based summary : Syringomyelia, Noncommunicating Isolated, also known as syringomyelia, is related to syringomyelia and idiopathic syringomyelia. The drugs Hyaluronic acid and Viscosupplements have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and brain, and related phenotypes are nystagmus and dysarthria

Related Diseases for Syringomyelia, Noncommunicating Isolated

Diseases related to Syringomyelia, Noncommunicating Isolated via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 421)
# Related Disease Score Top Affiliating Genes
1 syringomyelia 12.9
2 idiopathic syringomyelia 12.4
3 secondary syringomyelia 12.4
4 primary syringomyelia 12.4
5 familial syringomyelia 12.3
6 obsolete: congenital hydromyelia 12.2
7 obsolete: primary syringomyelia/hydromyelia 12.2
8 obsolete: posttraumatic syringomyelia 12.2
9 chiari malformation type i 11.8
10 chiari malformation 11.8
11 hydromyelia 11.7
12 syringohydromyelia 11.6
13 melanosis, neurocutaneous 11.6
14 chiari malformation type ii 11.6
15 myelomeningocele 11.5
16 basilar impression, primary 11.5
17 cowden syndrome 1 11.3
18 toe syndactyly, telecanthus, and anogenital and renal malformations 11.2
19 aminoacylase 1 deficiency 11.2
20 tethered spinal cord syndrome 11.2
21 hydrocephalus 10.8
22 scoliosis 10.8
23 spinal arachnoiditis 10.8
24 arachnoiditis 10.8
25 spinal cord injury 10.7
26 arthropathy 10.6
27 syringobulbia 10.6
28 arachnoid cysts, intracranial 10.5
29 spasticity 10.5
30 idiopathic scoliosis 10.4
31 neurogenic arthropathy 10.4
32 rare surgical neurologic disease 10.4
33 paraplegia 10.4
34 tuberculous meningitis 10.4
35 meningioma, radiation-induced 10.4
36 meningioma, familial 10.4
37 spinal meningioma 10.4
38 secretory meningioma 10.4
39 lymphoplasmacyte-rich meningioma 10.4
40 meningitis 10.4
41 ataxia and polyneuropathy, adult-onset 10.4
42 hemangioblastoma 10.3
43 lipomatosis, multiple 10.3
44 neural tube defects 10.3
45 pleomorphic lipoma 10.3
46 spondylosis 10.3
47 benign ependymoma 10.3
48 cellular ependymoma 10.3
49 muscular atrophy 10.3
50 intracranial hypertension 10.3

Graphical network of the top 20 diseases related to Syringomyelia, Noncommunicating Isolated:



Diseases related to Syringomyelia, Noncommunicating Isolated

Symptoms & Phenotypes for Syringomyelia, Noncommunicating Isolated

Human phenotypes related to Syringomyelia, Noncommunicating Isolated:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 dysarthria 31 HP:0001260
3 scoliosis 31 HP:0002650
4 arnold-chiari type i malformation 31 HP:0007099
5 gait ataxia 31 HP:0002066
6 babinski sign 31 HP:0003487
7 paresthesia 31 HP:0003401
8 limb muscle weakness 31 HP:0003690
9 lower limb spasticity 31 HP:0002061
10 urinary incontinence 31 HP:0000020
11 lower limb hyperreflexia 31 HP:0002395
12 unsteady gait 31 HP:0002317
13 syringomyelia 31 HP:0003396
14 horner syndrome 31 HP:0002277
15 neck pain 31 HP:0030833
16 areflexia of upper limbs 31 HP:0012046
17 abnormality of the foramen magnum 31 HP:0002699
18 enlarged sagittal diameter of the cervical canal 31 HP:0005878

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
horner syndrome

Muscle Soft Tissue:
muscle weakness
muscle atrophy in the limbs

Head And Neck Neck:
neck pain

Skeletal Skull:
associated with abnormalities at the foramen magnum, especially chiari malformation type i

Neurologic Central Nervous System:
dysarthria
unsteady gait
neck pain
arm pain
paresthesias
more
Genitourinary Bladder:
urinary incontinence

Head And Neck Face:
facial pain
facial numbness

Clinical features from OMIM:

186700

Drugs & Therapeutics for Syringomyelia, Noncommunicating Isolated

Drugs for Syringomyelia, Noncommunicating Isolated (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 Viscosupplements Phase 4
3 Protective Agents Phase 4
4 Adjuvants, Immunologic 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 Trace Elements
15 Micronutrients
16 Vitamins
17 Ergocalciferols
18 Nutrients
19 Vitamin D2
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, Noncommunicating Isolated

Genetic Tests for Syringomyelia, Noncommunicating Isolated

Anatomical Context for Syringomyelia, Noncommunicating Isolated

MalaCards organs/tissues related to Syringomyelia, Noncommunicating Isolated:

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

Publications for Syringomyelia, Noncommunicating Isolated

Articles related to Syringomyelia, Noncommunicating Isolated:

(show top 50) (show all 3464)
# Title Authors PMID Year
1
The pathogenesis of syringomyelia associated with lesions at the foramen magnum: a critical review of existing theories and proposal of a new hypothesis. 56 61
15140600 2004
2
Familial syringomyelia: case report and review of the literature. 56 61
7482254 1995
3
Pathological basis of spinal cord cavitation in syringomyelia: analysis of 105 autopsy cases. 61 56
7714606 1995
4
Familial syringomyelia. 61 56
4045487 1985
5
Familial syringomyelia: a report of four cases. 61 56
305236 1977
6
The distending force in the production of "communicating syringomyelia". 61 56
4183140 1969
7
HYDRODYNAMIC MECHANISM OF SYRINGOMYELIA: ITS RELATIONSHIP TO MYELOCELE. 56 61
14345682 1965
8
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
9
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
10
Comparison of Radiological Features and Clinical Characteristics in Scoliosis Patients With Chiari I Malformation and Idiopathic Syringomyelia: A Matched Study. 61
31730571 2019
11
Syringosubarachnoid shunt: insertion technique. 61
31852253 2019
12
Positive Outcome of Endoscopic Third Ventriculostomy in Fourth Ventricular Outlet Obstruction. 61
31479793 2019
13
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
14
Jacqueline du Pré and her alternative diagnosis. 61
31542612 2019
15
Neurosurgical Management of Lateral Meningocele Syndrome: A Clinical Update for the Pediatric Neurosurgeon. 61
31838470 2019
16
Syringomyelia in children with closed spinal dysraphism: long-term outcomes after surgical intervention. 61
31835253 2019
17
Safety and Efficacy of Syringoperitoneal Shunting with a Programmable Shunt Valve for Syringomyelia Associated with Extensive Spinal Adhesive Arachnoiditis: Technical Note. 61
31465850 2019
18
Clinical and radiological outcomes of arachnoid-preseving suboccipital decompression for adult chiari I malformation with and without syringomyelia. 61
31751843 2019
19
Facial changes related to brachycephaly in Cavalier King Charles Spaniels with Chiari-like malformation associated pain and secondary syringomyelia. 61
31691386 2019
20
12 Years In Pain: Case Report on the Management of Complex Pain in Syringomyelia. 61
31775022 2019
21
Burkholderia cepacia complex infection complicating long-term urethral catheterisation. 61
31732540 2019
22
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
23
Chiari malformation and syringomyelia. 61
31675698 2019
24
Spinal subarachnoid space tapering in patients with syringomyelia. 61
31159654 2019
25
Gastrointestinal Transit Scintigraphy in a Case of Syringomyelia. 61
31579201 2019
26
Factors affecting long-term mortality rate after diagnosis of syringomyelia in disabled spinal cord injury patients: a population-based study. 61
31602006 2019
27
Dural Laceration Resulting in the Formation of Syringomyelia Caused by a Loosened Hydroxyapatite Intraspinous Spacer after Spinous Process-splitting Laminoplasty. 61
31592152 2019
28
Chiari I malformation in children-the natural history. 61
31363830 2019
29
Chiari type I and hydrocephalus. 61
31227858 2019
30
Intraoperative neurophysiological monitoring in paediatric Chiari surgery-help or hindrance? 61
31346737 2019
31
Clinical diagnosis-part I: what is really caused by Chiari I. 61
31161267 2019
32
Outcomes and complications for individual neurosurgeons for the treatment of Chiari I malformation at a children's hospital. 61
31127343 2019
33
Presyrinx Associated with Post-Traumatic Hydrocephalus Successfully Treated by Ventriculoperitoneal Shunt. 61
31720275 2019
34
Bony decompression vs duraplasty for Chiari I malformation: does the eternal dilemma matter? 61
31209642 2019
35
Chiari 1 malformation and untreated sagittal synostosis: a new subset of complex Chiari? 61
31327038 2019
36
Pediatric ganglioglioma of the brainstem and cervicomedullary junction: a retrospective cohort study. 61
31585412 2019
37
The effect of filum terminale sectioning for Chiari 1 malformation treatment: systematic review. 61
31598783 2019
38
Charcot neuroarthropathy of the knee due to idiopathic sensory peripheral neuropathy. 61
31666060 2019
39
"Management: opinions from different centers"-the Sankt Augustin experience. 61
31073681 2019
40
Spontaneous Resolution of Syringomyelia with a 16-Year Serial Magnetic Resonance Imaging Follow-Up: A Case Report and Literature Review. 61
31351204 2019
41
Craniometrical imaging and clinical findings of adult Chiari malformation type 1 before and after posterior fossa decompression surgery with duraplasty. 61
31096790 2019
42
Opinion for different centers: surgical experience with Chiari malformation type I in children at Xuanwu Hospital, China. 61
31214817 2019
43
Outcomes in children undergoing posterior fossa decompression and duraplasty with and without tonsillar reduction for Chiari malformation type I and syringomyelia: a pilot prospective multicenter cohort study. 61
31628281 2019
44
Management of Chiari malformations: opinions from different centers-a review. 61
31127344 2019
45
Neuropathic Arthropathy of the Shoulder: A Systematic Review of Classifications and Treatments. 61
31663919 2019
46
Neuropathic Arthropathy of the Shoulder: A Systematic Review of Classifications and Treatments. 61
31574077 2019
47
Significance of Modified Clivoaxial Angles in the Treatment of Adult Chiari Malformation Type I. 61
31306845 2019
48
Treatment failure of syringomyelia associated with Chiari I malformation following foramen magnum decompression: how should we proceed? 61
30554294 2019
49
Embolized Spinal Dural AV Fistula Repairs Syringomyelia and Polyradiculopathy. 61
31486386 2019
50
Epidural Lipomatosis and Syringomyelia in Adulthood: Case Report and Literature Review. 61
31228704 2019

Variations for Syringomyelia, Noncommunicating Isolated

Expression for Syringomyelia, Noncommunicating Isolated

Search GEO for disease gene expression data for Syringomyelia, Noncommunicating Isolated.

Pathways for Syringomyelia, Noncommunicating Isolated

GO Terms for Syringomyelia, Noncommunicating Isolated

Sources for Syringomyelia, Noncommunicating Isolated

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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