MCID: SYR001
MIFTS: 46

Syringomyelia

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

Aliases & Classifications for Syringomyelia

MalaCards integrated aliases for Syringomyelia:

Name: Syringomyelia 12 74 52 53 36 29 42 43 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:327
KEGG 36 H01675
MeSH 43 D013595
NCIt 49 C85179
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 arachnoiditis and lumbosacral lipoma, and has symptoms including seizures, tremor and back pain. An important gene associated with Syringomyelia is ACY1 (Aminoacylase 1). The drugs Hyaluronic acid and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and bone, and related phenotypes are Decreased viability and Decreased viability

NIH Rare Diseases : 52 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 431)
# Related Disease Score Top Affiliating Genes
1 arachnoiditis 31.7 RICTOR AQP4
2 lumbosacral lipoma 30.3 RICTOR PES1
3 traumatic brain injury 30.3 GH1 AQP4
4 scoliosis 30.2 VDR POC5 NF1 GH1 COL1A1
5 intracranial hypertension, idiopathic 30.0 GH1 AQP4
6 spinal cord disease 29.7 RICTOR NF1 AQP4
7 obstructive hydrocephalus 29.1 NF1 AQP4
8 syringomyelia, noncommunicating isolated 12.8
9 idiopathic syringomyelia 12.4
10 secondary syringomyelia 12.4
11 primary syringomyelia 12.4
12 familial syringomyelia 12.3
13 obsolete: primary syringomyelia/hydromyelia 12.2
14 obsolete: posttraumatic syringomyelia 12.2
15 chiari malformation type i 11.8
16 chiari malformation 11.8
17 hydromyelia 11.7
18 syringohydromyelia 11.6
19 melanosis, neurocutaneous 11.6
20 chiari malformation type ii 11.6
21 myelomeningocele 11.5
22 basilar impression, primary 11.5
23 toe syndactyly, telecanthus, and anogenital and renal malformations 11.2
24 aminoacylase 1 deficiency 11.2
25 tethered spinal cord syndrome 11.2
26 hydrocephalus 10.8
27 spinal arachnoiditis 10.8
28 spinal cord injury 10.7
29 arthropathy 10.6
30 syringobulbia 10.6
31 arachnoid cysts, intracranial 10.5
32 spasticity 10.5
33 rare surgical neurologic disease 10.5
34 idiopathic scoliosis 10.4
35 neurogenic arthropathy 10.4
36 paraplegia 10.4
37 tuberculous meningitis 10.4
38 meningioma, radiation-induced 10.4
39 meningioma, familial 10.4
40 spinal meningioma 10.4
41 secretory meningioma 10.4
42 lymphoplasmacyte-rich meningioma 10.4
43 meningitis 10.4
44 ataxia and polyneuropathy, adult-onset 10.4
45 stork bite 10.3 NRAS CD2AP
46 hemangioblastoma 10.3
47 lipomatosis, multiple 10.3
48 neural tube defects 10.3
49 pleomorphic lipoma 10.3
50 spondylosis 10.3

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, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Syringomyelia according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.2 NF1 NRAS
2 Decreased viability GR00221-A-2 10.2 NF1
3 Decreased viability GR00221-A-3 10.2 NRAS
4 Decreased viability GR00221-A-4 10.2 NF1
5 Decreased viability GR00240-S-1 10.2 FMC1
6 Decreased viability GR00301-A 10.2 FGFR2
7 Decreased viability GR00342-S-1 10.2 FGFR2
8 Decreased viability GR00342-S-2 10.2 FGFR2
9 Decreased viability GR00342-S-3 10.2 FGFR2
10 Decreased viability GR00381-A-1 10.2 ACY1 CYREN FMC1 PES1 POC5
11 Decreased viability GR00402-S-2 10.2 ACY1 AQP4 CD2AP COL1A1 CYREN EDA
12 no effect GR00402-S-1 9.62 ACY1 AQP4 CD2AP COL1A1 CYREN EDA

MGI Mouse Phenotypes related to Syringomyelia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 AQP4 CD2AP COL1A1 CYREN FGFR2 FMC1
2 craniofacial MP:0005382 9.8 COL1A1 FGFR2 FMC1 NF1 NRAS PES1
3 embryo MP:0005380 9.76 COL1A1 FGFR2 FMC1 NF1 NRAS PES1
4 endocrine/exocrine gland MP:0005379 9.61 AQP4 CD2AP COL1A1 FGFR2 NF1 NRAS
5 renal/urinary system MP:0005367 9.17 AQP4 CD2AP COL1A1 FGFR2 NF1 RICTOR

Drugs & Therapeutics for Syringomyelia

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