MCID: SYR001
MIFTS: 38

Syringomyelia malady

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

Aliases & Classifications for Syringomyelia

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Aliases & Descriptions for Syringomyelia:

Name: Syringomyelia 10 45 46 12 36 35 65

Classifications:



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Disease Ontology10 DOID:327
MeSH36 D013595
NCIt42 C85179
UMLS65 C0039144

Summaries for Syringomyelia

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NINDS:46 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, destroying the center of the spinal cord. Since the spinal cord connects the brain to nerves in the extremities, this damage results in 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 I malformation. This malformation causes the lower part of the cerebellum to protrude from its normal location in the back of the head, through the hole connecting the skull and spine, and into the cervical or neck portion of the spinal canal. Syringomyelia may also occur as a complication of trauma, meningitis, hemorrhage, a tumor, or other condition. 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 secondary syringomyelia and idiopathic syringomyelia. An important gene associated with Syringomyelia is ACY1 (Aminoacylase 1), and among its related pathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include spinal cord, brain and cerebellum.

NIH Rare Diseases:45 Syringomyelia is a disorder 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, meningitis, hemorrhage, a tumor, or arachnoiditis. 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. last updated: 5/1/2009

MedlinePlus:35 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:68 Syringomyelia (/sᵻˌrɪŋɡəmaɪˈiːliə, -ɡoʊ-/) is a generic term referring to a disorder in... more...

Related Diseases for Syringomyelia

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Graphical network of the top 20 diseases related to Syringomyelia:



Diseases related to syringomyelia

Symptoms for Syringomyelia

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Drugs & Therapeutics for Syringomyelia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunoglobulins4477
2Antibodies, Antiphospholipid25
3Antibodies4477

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Trial of a Serious Game for Individuals With SCI/DRecruitingNCT02341950Phase 3
2Safety of Autologous Human Schwann Cells (ahSC) in Subjects With Subacute SCIActive, not recruitingNCT01739023Phase 1
3Establishing the Physiology of SyringomyeliaCompletedNCT00001327
4Study and Surgical Treatment of SyringomyeliaCompletedNCT00011245
5Centralized Reading Assessment of Chronic CerebroSpinal Venous Insufficiency (CCSVI) in Patients With Multiple Sclerosis and Other Neurological DiseasesCompletedNCT02308579
6Characterization of At-risk Population for Pre-sacral Tumor in CURRARINO SyndromeCompletedNCT00780117
7A Prospective Natural History Study of Patients With SyringomyeliaRecruitingNCT01150708
8Genetic Analysis of the Chiari I MalformationRecruitingNCT00004738
9The Genetics of Chiari Type I MalformationActive, not recruitingNCT01060800
10Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With SyringomyeliaNot yet recruitingNCT02669836

Search NIH Clinical Center for Syringomyelia


Cochrane evidence based reviews: syringomyelia

Genetic Tests for Syringomyelia

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Anatomical Context for Syringomyelia

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MalaCards organs/tissues related to Syringomyelia:

33
Spinal cord, Brain, Cerebellum, Lung, Breast, T cells, Heart

Animal Models for Syringomyelia or affiliated genes

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Publications for Syringomyelia

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Articles related to Syringomyelia:

(show top 50)    (show all 722)
idTitleAuthorsYear
1
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. (26018045)
2015
2
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. (25315662)
2015
3
Bile carcinoembryonic cell adhesion molecule 6 (CEAM6) as a biomarker of malignant biliary stenoses. (23806607)
2014
4
Glomangioma of the nasal septum: a case report and review. (23599117)
2013
5
Molecular subtypes identified by gene expression profiling in early stage endometrioid endometrial adenocarcinoma. (24112163)
2013
6
DICAM inhibits angiogenesis via suppression of AKT and p38 MAP kinase signalling. (23386276)
2013
7
Diffuse peritoneal leiomyomatosis. (23815223)
2013
8
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. (24199812)
2013
9
Acute Myocardial Infarction and Pulmonary Diseases Result in Two Different Degradation Profiles of Elastin as Quantified by Two Novel ELISAs. (23805173)
2013
10
Fermentable carbohydrate restriction reduces luminal bifidobacteria and gastrointestinal symptoms in patients with irritable bowel syndrome. (22739368)
2012
11
Novel markers of cerebral embolism in the course of infective endocarditis. (22056473)
2012
12
Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese. (21068102)
2011
13
Plasma von Willebrand factor as a predictor of survival in pulmonary arterial hypertension associated with congenital heart disease. (22068906)
2011
14
Estimating the net contribution of interleukin-28B variation to spontaneous hepatitis C virus clearance. (21360716)
2011
15
The E2 ubiquitin-conjugating enzymes direct polyubiquitination to preferred lysines. (20061386)
2010
16
Effect of losartan on ambulatory short-term blood pressure variability and cardiovascular remodeling in hypertensive patients on hemodialysis. (19423110)
2009
17
C-reactive protein and uremia. (19708997)
2009
18
Successful neonatal outcome in 2 cases of maternal persistent vegetative state treated in a labor and delivery suite. (16631100)
2006
19
Bullous pemphigoid initially localized around a urostomy. (17076741)
2006
20
Direct-to-patient BRCA1 testing: the Twoj Styl experience. (16807675)
2006
21
Lymphangiogenesis, inflammation and metastasis. (16334134)
2005
22
Expression and characterization of recombinant beta-secretase from Trichoplusia ni BTI Tn5B1-4 cells transformed with cDNAs encoding human beta1,4-galactosyltransferase and Gal beta1,4-GlcNAc alpha 2,6-sialytransferase. (16226891)
2005
23
Compliance with osteoporosis medications. (16287772)
2005
24
Practical aspects of decontamination of the unconventional transmissible agents that cause sporadic and variant Creutzfeldt-Jakob disease and other similar human diseases. (15448715)
2004
25
Characterization of the nucleotide sequence of a polyubiquitin gene (PUBC1) from Arabian camel, Camelus dromedarius. (15469688)
2004
26
A retinoid X receptor (RXR)-selective retinoid reveals that RXR-alpha is potentially a therapeutic target in breast cancer cell lines, and that it potentiates antiproliferative and apoptotic responses to peroxisome proliferator-activated receptor ligands. (15318936)
2004
27
Generation and coupling of [Mn(dmpe)2(C triple bond CR)(C triple bond C)]* radicals producing redox-active C4-bridged rigid-rod complexes. (14679530)
2003
28
Case number 26: systemic idiopathic fibrosis associated with aortitis. (12695167)
2003
29
Evaluation of diagnostic NOTCH3 immunostaining in CADASIL. (12756589)
2003
30
Anuria due to bilateral ureteral obstruction by Aspergillus flavus in an adult male. (11927329)
2002
31
Images in neuroscience: 2. Adrenoleukodystrophy. (11922705)
2002
32
Different beta-catenin immunoexpression in carcinoid tumors of the appendix in comparison to other gastrointestinal carcinoid tumors. (12389996)
2002
33
Complications in heart transplantation: diagnosis and treatment]. (11577591)
2001
34
Treatment of large prostatic cyst with retropubic insertion of a fat tissue flap. (10893615)
2000
35
Human myeloma cells promote the production of interleukin 6 by primary human osteoblasts. (10691869)
2000
36
Intragraft platelet-derived growth factor-alpha and transforming growth factor-beta1 during the development of accelerated graft vascular disease after clinical heart transplantation. (10638832)
1999
37
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. (9702906)
1998
38
Melanoma x macrophage fusion hybrids acquire increased melanogenesis and metastatic potential: altered N-glycosylation as an underlying mechanism. (9877101)
1998
39
Expression of two isoforms of the third sarco/endoplasmic reticulum Ca2+ ATPase (SERCA3) in platelets. Possible recognition of the SERCA3b isoform by the PL/IM430 monoclonal antibody. (9512369)
1998
40
Usefulness of atrial septostomy as a treatment for primary pulmonary hypertension and guidelines for its application. (9264443)
1997
41
Identical T-cell receptor beta chain rearrangements are present in T cells infiltrating the jejunal mucosa of untreated celiac patients. (9328786)
1997
42
Human papillomavirus DNA and abnormal p53 expression in carcinoma of the urinary bladder. (7654357)
1995
43
Inhibition of 5'-deoxy-5-fluorouridine phosphorolysis by acyclopyrimidinenucleosides in intestinal tissue homogenates. (7735236)
1995
44
Ocular and systemic manifestations of cerebrotendinous xanthomatosis. (7485361)
1995
45
Insulin-like growth factor binding protein-1 inhibits the mitogenic effect of insulin-like growth factors and progestins in human endometrial stromal cells. (7688985)
1993
46
Signs of asbestosis and impaired pulmonary function in women who worked in shipyards. (4073052)
1985
47
Progressive optic atrophy and sensorineural hearing loss due to chronic glue sniffing. (6644323)
1983
48
Effect of sulphapyridine, 5-aminosalicylic acid, and placebo in patients with idiopathic proctitis: a study to determine the active therapeutic moiety of sulphasalazine. (6107263)
1980
49
Some observations in the genesis of renal tuberculosis: a preliminary report. (13276636)
1955
50

Variations for Syringomyelia

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Expression for genes affiliated with Syringomyelia

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Search GEO for disease gene expression data for Syringomyelia.

Pathways for genes affiliated with Syringomyelia

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GO Terms for genes affiliated with Syringomyelia

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Biological processes related to Syringomyelia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to estradiolGO:00323559.7COL1A1, GH1
2leukocyte migrationGO:00509009.5COL1A1, NRAS

Sources for Syringomyelia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet