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 57
Syringomyelia 59
Hydromyelia 59

Characteristics:

Orphanet epidemiological data:

59
syringomyelia
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
syringomyelia, noncommunicating isolated:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 186700
MESH via Orphanet 45 D013595
ICD10 via Orphanet 34 G95.0 Q06.4
UMLS via Orphanet 73 C0039144 C0152444 C1861301
Orphanet 59 ORPHA3280
MedGen 42 C4538540

Summaries for Syringomyelia, Noncommunicating Isolated

OMIM : 57 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 Immunologic Factors 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 428)
# Related Disease Score Top Affiliating Genes
1 syringomyelia 13.0
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 congenital hydrocephalus 10.8
23 scoliosis 10.8
24 spinal arachnoiditis 10.8
25 arachnoiditis 10.8
26 spinal cord injury 10.7
27 arthropathy 10.6
28 syringobulbia 10.6
29 arachnoid cysts 10.5
30 spasticity 10.5
31 idiopathic scoliosis 10.4
32 neurogenic arthropathy 10.4
33 paraplegia 10.4
34 rare surgical neurologic disease 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 hemangioblastoma 10.3
44 spondylosis 10.3
45 lipomatosis, multiple 10.3
46 neural tube defects 10.3
47 pleomorphic lipoma 10.3
48 benign 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:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 dysarthria 32 HP:0001260
3 scoliosis 32 HP:0002650
4 gait ataxia 32 HP:0002066
5 babinski sign 32 HP:0003487
6 paresthesia 32 HP:0003401
7 limb muscle weakness 32 HP:0003690
8 lower limb spasticity 32 HP:0002061
9 urinary incontinence 32 HP:0000020
10 lower limb hyperreflexia 32 HP:0002395
11 unsteady gait 32 HP:0002317
12 syringomyelia 32 HP:0003396
13 horner syndrome 32 HP:0002277
14 neck pain 32 HP:0030833
15 arnold-chiari type i malformation 32 HP:0007099
16 areflexia of upper limbs 32 HP:0012046
17 abnormality of the foramen magnum 32 HP:0002699
18 enlarged sagittal diameter of the cervical canal 32 HP:0005878

Symptoms via clinical synopsis from OMIM:

57
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 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, Noncommunicating Isolated

Genetic Tests for Syringomyelia, Noncommunicating Isolated

Anatomical Context for Syringomyelia, Noncommunicating Isolated

MalaCards organs/tissues related to Syringomyelia, Noncommunicating Isolated:

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

Publications for Syringomyelia, Noncommunicating Isolated

Articles related to Syringomyelia, Noncommunicating Isolated:

(show top 50) (show all 3424)
# 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. 38 8
15140600 2004
2
Familial syringomyelia: case report and review of the literature. 38 8
7482254 1995
3
Pathological basis of spinal cord cavitation in syringomyelia: analysis of 105 autopsy cases. 38 8
7714606 1995
4
Familial syringomyelia. 38 8
4045487 1985
5
Familial syringomyelia: a report of four cases. 38 8
305236 1977
6
The distending force in the production of "communicating syringomyelia". 38 8
4183140 1969
7
HYDRODYNAMIC MECHANISM OF SYRINGOMYELIA: ITS RELATIONSHIP TO MYELOCELE. 38 8
14345682 1965
8
Epidural Lipomatosis and Syringomyelia in Adulthood: Case Report and Literature Review. 38
31228704 2019
9
Treatment failure of syringomyelia associated with Chiari I malformation following foramen magnum decompression: how should we proceed? 38
30554294 2019
10
Spontaneous resolution of syringomyelia secondary to cranio-cervical junction stenosis in a patient with achondroplasia. 38
31127341 2019
11
Thoracic Meningocele and Cervical Syringomyelia Treated with Ventriculoperitoneal Shunt. 38
31152885 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
Recognising the signs of Chiari-like malformation-associated pain. 38
31395706 2019
14
Hydrocephalus after foramen magnum decompression for Chiari I malformation successfully treated with the aspiration of pseudomeningocele: a case report. 38
31383038 2019
15
Acute presentations of intradural lipomas: case reports and a review of the literature. 38
31395022 2019
16
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
17
The influence of concomitant syringomyelia on patient reported outcome following hind brain decompression. 38
31304794 2019
18
CSF omeprazole concentration and albumin quotient following high dose intravenous omeprazole in dogs. 38
31326702 2019
19
Signs consistent with syringobulbia may be detected in dogs undergoing MRI. 38
30887625 2019
20
Cervical hyperaesthesia in dogs: an epidemiological retrospective study of 185 cases. 38
30868604 2019
21
Intraoperative neurophysiological monitoring in paediatric Chiari surgery-help or hindrance? 38
31346737 2019
22
Recovery of Transcranial Motor Evoked Potentials After Atlantoaxial Stabilization for Chiari Formation: Report of 20 Cases. 38
30947011 2019
23
Chiari I malformation in children-the natural history. 38
31363830 2019
24
Disproportionately large communicating fourth ventricle: two case reports. 38
31325957 2019
25
Dynamic cerebellar herniation in Chiari patients during the cardiac cycle evaluated by dynamic magnetic resonance imaging. 38
31053886 2019
26
Chiari 1 malformation and untreated sagittal synostosis: a new subset of complex Chiari? 38
31327038 2019
27
Spontaneous Resolution of Syringomyelia with a 16-Year Serial Magnetic Resonance Imaging Follow-Up: A Case Report and Literature Review. 38
31351204 2019
28
Significance of Modified Clivoaxial Angles in the Treatment of Adult Chiari Malformation Type I. 38
31306845 2019
29
Behavioral and clinical signs of Chiari-like malformation-associated pain and syringomyelia in Cavalier King Charles spaniels. 38
31290195 2019
30
Terminal syringomyelia associated with lumbar limited dorsal myeloschisis. 38
31317225 2019
31
Clinical analysis of syringomyelia resulting from spinal hemangioblastoma in a single series of 38 consecutive patients. 38
30999208 2019
32
Update on the pathophysiology and management of syringomyelia unrelated to Chiari malformation. 38
27939111 2019
33
Cine balanced fast field echo magnetic resonance imaging of canine spinal arachnoid diverticulae pulsation. 38
31113570 2019
34
Bony decompression vs duraplasty for Chiari I malformation: does the eternal dilemma matter? 38
31209642 2019
35
A Review of a New Clinical Entity of 'Central Atlantoaxial Instability': Expanding Horizons of Craniovertebral Junction Surgery. 38
31261452 2019
36
Chiari type I and hydrocephalus. 38
31227858 2019
37
A novel fixation technique using anterior C1 screw in a pediatric solitary cervical spinal juvenile xanthogranuloma. 38
30771048 2019
38
The effects of variation in the arterial pulse waveform on perivascular flow. 38
31047694 2019
39
Clinical diagnosis-part I: what is really caused by Chiari I. 38
31161267 2019
40
Anterior Retropharyngeal Cage Distraction and Fixation for Basilar Invagination: "The Wedge Technique". 38
31261468 2019
41
Proteolytic Rafts for Improving Intraparenchymal Migration of Minimally Invasively Administered Hydrogel-Embedded Stem Cells. 38
31238564 2019
42
Syringomyelia-Associated Dystonia: Case Series, Literature Review, and Novel Insights. 38
31286008 2019
43
Ultrasound-guided Syringosubarachnoid Shunt Insertion for Cervicothoracic Syringomyelia. 38
31220040 2019
44
Spinal subarachnoid space tapering in patients with syringomyelia. 38
31159654 2019
45
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
46
Opinion for different centers: surgical experience with Chiari malformation type I in children at Xuanwu Hospital, China. 38
31214817 2019
47
The Transspinal Canal Screwing Technique for Atlantoaxial Anomalies: A Technical Note and 2 Case Reports. 38
30653912 2019
48
Short- and long-term outcome and magnetic resonance imaging findings after surgical treatment of thoracolumbar spinal arachnoid diverticula in 25 Pugs. 38
30844093 2019
49
"Management: opinions from different centers"-the Sankt Augustin experience. 38
31073681 2019
50
Outcomes and complications for individual neurosurgeons for the treatment of Chiari I malformation at a children's hospital. 38
31127343 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
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29 GTR
30 HGMD
31 HMDB
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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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