MCID: ARC025
MIFTS: 45

Arachnoid Cysts, Intracranial

Categories: Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Arachnoid Cysts, Intracranial

MalaCards integrated aliases for Arachnoid Cysts, Intracranial:

Name: Arachnoid Cysts, Intracranial 57 19
Arachnoid Cyst 58 28 5 75 33
Arachnoid Cysts 19 52 75 71
Intracranial Arachnoid Cysts 19 71
Arachnoid Cerebral Cyst 33
Intracranium Cyst Nos 33
Arachnoid Brain Cyst 33

Characteristics:


Inheritance:

Arachnoid Cysts, Intracranial: Autosomal recessive 57
Arachnoid Cyst: Autosomal recessive 58

Age Of Onset:

Arachnoid Cyst: Childhood 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Arachnoid Cysts, Intracranial

NINDS: 52 Arachnoid cysts are cerebrospinal fluid-filled sacs that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord.   Primary arachnoid cysts are present at birth and are the result of developmental abnormalities in the brain and spinal cord that arise during the early weeks of gestation.  Secondary arachnoid cysts are not as common as primary cysts and develop as a result of head injury, meningitis, or tumors, or as a complication of brain surgery.  The majority of arachnoid cysts form outside the temporal lobe of the brain in an area of the skull known as the middle cranial fossa.  Arachnoid cysts involving the spinal cord are rarer.  The location and size of the cyst determine the symptoms and when those symptoms begin.  Most individuals with arachnoid cysts develop symptoms before the age of 20, and especially during the first year of life, but some people with arachnoid cysts never have symptoms.  Males are four times more likely to have arachnoid cysts than females.  Typical symptoms of an arachnoid cyst around the brain include headache, nausea and vomiting, seizures, hearing and visual disturbances, vertigo, and difficulties with balance and walking.  Arachnoid cysts around the spinal cord compress the spinal cord or nerve roots and cause symptoms such as progressive back and leg pain and tingling or numbness in the legs or arms.  Diagnosis usually involves a brain scan or spine scan using diffusion-weighted MRI (magnetic resonance imaging) which helps distinguish fluid-filled arachnoid cysts from other types of cysts.

MalaCards based summary: Arachnoid Cysts, Intracranial, also known as arachnoid cyst, is related to cerebral palsy and anxiety. An important gene associated with Arachnoid Cysts, Intracranial is GPHN (Gephyrin). Affiliated tissues include spinal cord, brain and temporal lobe, and related phenotypes are headache and leptomeningeal enhancement

GARD: 19 Arachnoid cysts are sacs filled with cerebrospinal fluid (CSF) that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. Arachnoid cysts can be primary or secondary. Primary Arachnoid cysts are congenital (present at birth), resulting from abnormal development of the brain and spinal cord during early pregnancy. Secondary Arachnoid cysts are less common, and result from head injuries, meningitis, tumors, or as a complication of brain surgery. Signs and symptoms depend on the location and size of the cyst and may include headache, nausea and vomiting, seizures, hearing and visual disturbances, vertigo, and difficulties with balance and walking. Although many affected individuals develop symptoms in the first year of life, some never develop symptoms. In some cases, Arachnoid cysts are part of a genetic syndrome such as Chudley-McCullough syndrome, mucopolysaccharidosis, or Marfan syndrome, where there are many other associated signs and symptoms.

OMIM®: 57 Arachnoid cysts are extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid. They account for approximately 1% of intracranial space-occupying lesions, although studies since the advent of CT scanning suggest a higher percentage. A striking male preponderance has been observed (summary by Wilson et al., 1988). (207790) (Updated 08-Dec-2022)

Orphanet: 58 A disorder with extraparenchymal cysts, intra-arachnoidal collections of fluid, the composition of which is close to that of cerebrospinal fluid. They are often asymptomatic.

Wikipedia: 75 Arachnoid cysts are cerebrospinal fluid covered by arachnoidal cells and collagen that may develop... more...

Related Diseases for Arachnoid Cysts, Intracranial

Diseases related to Arachnoid Cysts, Intracranial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 495)
# Related Disease Score Top Affiliating Genes
1 cerebral palsy 29.6 PALS1 GPHN
2 anxiety 29.1 PALS1 GPHN
3 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies 11.8
4 spinal intradural arachnoid cysts 11.7
5 chudley-mccullough syndrome 11.7
6 pachygyria with mental retardation, seizures, and arachnoid cysts 11.5
7 melanosis, neurocutaneous 11.3
8 pachygyria-intellectual disability-epilepsy syndrome 11.3
9 craniopharyngioma 11.1
10 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 11.1
11 encephalocraniocutaneous lipomatosis 11.1
12 neurodevelopmental disorder with microcephaly and gray sclerae 11.1
13 scalp syndrome 11.1
14 hydrocephalus 10.9
15 intracranial hypertension 10.7
16 spastic ataxia, charlevoix-saguenay type 10.6
17 spinal cord disease 10.5
18 trigeminal neuralgia 10.5
19 hydrocephalus, congenital, 1 10.5
20 obstructive hydrocephalus 10.5
21 vascular disease 10.5
22 syringomyelia 10.5
23 idiopathic syringomyelia 10.5
24 bobble-head doll syndrome 10.4
25 arachnoiditis 10.4
26 precocious puberty 10.4
27 headache 10.4
28 hemifacial spasm 10.4
29 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
30 cauda equina syndrome 10.4
31 glanders 10.4
32 cerebrospinal fluid leak 10.4
33 abducens palsy 10.3
34 tremor 10.3
35 radiculopathy 10.3
36 glutaric acidemia i 10.3
37 papilledema 10.3
38 ptosis 10.3
39 empty sella syndrome 10.3
40 hemiplegia 10.3
41 hypogonadism 10.3
42 neuropathy 10.3
43 distichiasis 10.2
44 dandy-walker syndrome 10.2
45 hereditary spastic paraplegia 10.2
46 chiari malformation 10.2
47 spasticity 10.2
48 lipomatosis, multiple 10.2
49 meningitis 10.2
50 lymphedema-distichiasis syndrome 10.2

Graphical network of the top 20 diseases related to Arachnoid Cysts, Intracranial:



Diseases related to Arachnoid Cysts, Intracranial

Symptoms & Phenotypes for Arachnoid Cysts, Intracranial

Human phenotypes related to Arachnoid Cysts, Intracranial:

58 30 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 headache 58 30 Frequent (33%) Frequent (79-30%)
HP:0002315
2 leptomeningeal enhancement 58 30 Frequent (33%) Frequent (79-30%)
HP:0032070
3 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
4 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
5 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
6 diplopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000651
7 depression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000716
8 facial palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010628
9 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
10 slurred speech 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001350
11 irritability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000737
12 abdominal pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002027
13 vertigo 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002321
14 paresthesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003401
15 insomnia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100785
16 memory impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002354
17 abnormality of the endocrine system 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000818
18 subarachnoid hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002138
19 distal muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002460
20 poor appetite 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004396
21 hemiparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001269
22 tetraparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002273
23 disinhibition 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000734
24 visual field defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001123
25 mydriasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011499
26 distal sensory impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002936
27 oculomotor nerve palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012246
28 paraparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002385
29 spinal cord compression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002176
30 urinary incontinence 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000020
31 urinary bladder sphincter dysfunction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002839
32 inability to walk 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002540
33 nausea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002018
34 mania 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100754
35 blurred vision 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000622
36 lower limb pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012514
37 lower limb muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007340
38 difficulty standing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003698
39 inappropriate crying 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030215
40 abnormal large intestine physiology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012700
41 cranial nerve compression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001293
42 upgaze palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025331
43 sciatica 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011868
44 social and occupational deterioration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007086
45 disturbance of facial expression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005324
46 diminished motivation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000745
47 self-neglect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025479
48 posterior fossa cyst at the fourth ventricle 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000933
49 interhemispheric cyst 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0032327
50 chiari malformation 30 Occasional (7.5%) HP:0002308

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
microcephaly
macrocrania

Neurologic Central Nervous System:
mental retardation
arachnoid cysts

Clinical features from OMIM®:

207790 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Arachnoid Cysts, Intracranial:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.8 ARX GPHN PALS1

Drugs & Therapeutics for Arachnoid Cysts, Intracranial

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 KRANIOPHARYNGEOM Registry 2019 Multicenter Registry for Patients With Childhood-onset Craniopharyngioma, Xanthogranuloma, Cysts of Rathke's Pouch, Meningioma, Pituitary Adenoma, Arachnoid Cysts Recruiting NCT04158284

Search NIH Clinical Center for Arachnoid Cysts, Intracranial

Genetic Tests for Arachnoid Cysts, Intracranial

Genetic tests related to Arachnoid Cysts, Intracranial:

# Genetic test Affiliating Genes
1 Arachnoid Cyst 28

Anatomical Context for Arachnoid Cysts, Intracranial

Organs/tissues related to Arachnoid Cysts, Intracranial:

MalaCards : Spinal Cord, Brain, Temporal Lobe, Pituitary, Bone, Cerebellum, Pineal

Publications for Arachnoid Cysts, Intracranial

Articles related to Arachnoid Cysts, Intracranial:

(show top 50) (show all 3361)
# Title Authors PMID Year
1
Monozygotic twins with mirror image cysts: indication of a genetic mechanism in arachnoid cysts? 62 57
17606888 2007
2
Familial intracranial arachnoid cysts. 62 57
1863926 1991
3
Arachnoid cysts in a brother and sister. 62 57
3225827 1988
4
Arachnoid cyst of the middle cranial fossa: report of bilateral cysts in siblings. 62 57
7280984 1981
5
Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report. 62
35776137 2023
6
Prenatally Symptomatic Suprasellar Arachnoid Cyst: When to treat? A case-base update. 62
35907443 2022
7
Arachnoid cysts: using prenatal imaging and need for pediatric neurosurgical intervention to better understand their natural history and prognosis. 62
33397177 2022
8
Clinical and imaging features of spinal extradural arachnoid cysts: a retrospective study of 50 cases. 62
35970946 2022
9
Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations. 62
36464758 2022
10
Intracranial cysts: incidental or neurodevelopmental? 62
36323954 2022
11
Further characterization of NFIB-associated phenotypes: Report of two new individuals. 62
36321570 2022
12
Relative prevalence and outcome of fetal posterior fossa abnormality. 62
36318816 2022
13
Novel use of nonpenetrating titanium clips for pediatric primary spinal dural closure: A technical note. 62
36084429 2022
14
Clinical application of 3D Slicer combined with Sina/MosoCam multimodal system in preoperative planning of brain lesions surgery. 62
36357434 2022
15
Temporal sylvian fissure arachnoid cyst in children: treatment outcome following microsurgical cyst fenestration with special emphasis on cyst reduction and subdural collection. 62
36348036 2022
16
Tinnitus Triggered by a Cerebellopontine Arachnoid Cyst in an Adolescent. 62
36437563 2022
17
Diagnosis and treatment of MN1 C-terminal truncation syndrome. 62
36124717 2022
18
Intraoperative high-field resonance: How to optimize its use in our healthcare system. 62
34625382 2022
19
Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst. 62
36274068 2022
20
Nonneoplastic and noninfective cysts of the central nervous system: A histopathological study. 62
36210745 2022
21
Dis(appearance) of an Arachnoid Cyst: A Follow-up Imaging Perspective. 62
36180735 2022
22
Bobble-head doll syndrome in an infant with an arachnoid cyst: a case report. 62
36303240 2022
23
Scalpel sign: Dorsal thoracic arachnoid web, thoracic arachnoid cyst and ventral cord herniation. 62
35923346 2022
24
A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review. 62
36221391 2022
25
Late Onset Symptomatic Enlargement of Treated Spinal Intradural Neurocysticercosis Cyst. 62
36147766 2022
26
Mechanical Complications of Sophysa SM8 Shunt in Adult Hydrocephalus: A Monocentric Experience. 62
36001762 2022
27
Cognitive impairment in epilepsy patients and its correlations. 62
36269892 2022
28
Prevalence of incidental intracranial findings on magnetic resonance imaging: a systematic review and meta-analysis. 62
35525892 2022
29
Sylvian arachnoid cysts in children: "is all quiet on the western front?" 62
36258050 2022
30
The unique features of middle cranial fossa and Sylvian fissure arachnoid cysts in children: MRI evaluation. 62
36266364 2022
31
The Efficacy and Tolerability of Electroconvulsive Therapy in Psychiatric Patients with Arachnoid Cysts: A Retrospective Chart Study. 62
36291326 2022
32
Surgical indications in pediatric arachnoid cysts. 62
36284010 2022
33
Intracranial drainage versus extracranial shunt in the treatment of intracranial arachnoid cysts: a meta-analysis. 62
35723726 2022
34
Clinical variety and prognosis of intracranial arachnoid cysts in children. 62
35657443 2022
35
Ruptured Sylvian arachnoid cysts: an update on a real problem. 62
36169701 2022
36
Clinical value of classification in the treatment of children with suprasellar arachnoid cysts. 62
36065031 2022
37
Effectiveness of multiple endoscopic fenestrations for the treatment of Sylvian fissure arachnoid cysts: a multicenter study. 62
36166054 2022
38
A Rare Triad of Lateral Rectus Palsy, Sylvain Fissure Bleed, and Bilateral SDH Shrouding a Benign Pathology. 62
36352626 2022
39
A neonatal purely prepontine arachnoid cyst: a case report and review of the literature. 62
35532779 2022
40
First Ever Case of an Atypical, Cerebral Hemispheric Dermoid Cyst Masquerading as an Arachnoid Cyst - A "Mirage". 62
36352681 2022
41
Spinal extradural arachnoid cyst: A rare cause of thoracic myelopathy. 62
35769918 2022
42
Thoracic spinal arachnoid cyst in a pediatric patient presenting with isolated bladder and bowel incontinence. 62
35800148 2022
43
Minimally invasive, indirect corneal neurotization using an ipsilateral sural nerve graft for early neurotrophic keratopathy. 62
35664449 2022
44
Factors Associated with Nontraumatic Spontaneous Subdural Hematomas in Pediatric Patients. 62
35793697 2022
45
Optic nerve ultrasonography in the evaluation of the relationship between arachnoid cyst and headache. 62
35460353 2022
46
Chronic hematoma superimposed to a large frontotemporal arachnoid cyst: evidence against crowding of audioverbal memory. 62
36062415 2022
47
Epilepsy and cognitive deterioration as postoperative complications of the arachnoid cyst fenestration: Case report. 62
33103580 2022
48
Cochlear Implant in a Child with a Large Arachnoid Cyst and Cysto-peritoneal Shunt. 62
36032920 2022
49
How to locate the dural defect in a spinal extradural meningeal cyst: a literature review. 62
36045421 2022
50
Endoscopic Management of Lateral Ventricle Arachnoid Cysts-Case Series with Proposed Classification. 62
35525436 2022

Variations for Arachnoid Cysts, Intracranial

ClinVar genetic disease variations for Arachnoid Cysts, Intracranial:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPHN, PALS1 NM_022474.4(PALS1):c.1289A>G (p.Glu430Gly) SNV Pathogenic
983221 rs2085184370 GRCh37: 14:67783612-67783612
GRCh38: 14:67316895-67316895
2 ARX NM_139058.3(ARX):c.994C>T (p.Arg332Cys) SNV Likely Pathogenic
1077119 GRCh37: X:25031118-25031118
GRCh38: X:25013001-25013001

Copy number variations for Arachnoid Cysts, Intracranial from CNVD:

6 (show all 32)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 57050 11 62557724 62669857 Loss SLC22A24 Intracranial arachnoid cysts
2 68816 12 51724073 51844567 Loss CSAD Intracranial arachnoid cysts
3 68817 12 51724073 51844567 Loss IGFBP6 Intracranial arachnoid cysts
4 68818 12 51724073 51844567 Loss SOAT2 Intracranial arachnoid cysts
5 68819 12 51724073 51844567 Loss SPRYD3 Intracranial arachnoid cysts
6 68820 12 51724073 51844567 Loss TNS2 Intracranial arachnoid cysts
7 70825 12 64978487 65093419 Gain ITGB7 Intracranial arachnoid cysts
8 70828 12 64978487 65093419 Gain ZNF740 Intracranial arachnoid cysts
9 86768 14 64978487 65093419 Inversion FUT8 Intracranial arachnoid cysts
10 101220 16 3431656 3522375 Copy number C16orf90 Intracranial arachnoid cysts
11 101221 16 3431656 3522375 Copy number CLUAP1 Intracranial arachnoid cysts
12 101380 16 3522375 3631656 Loss SLX4 Intracranial arachnoid cysts
13 101382 16 3522375 3631656 Loss NLRC3 Intracranial arachnoid cysts
14 106726 17 1 10700000 Loss TP53 Intracranial arachnoid cysts
15 112317 17 38560627 38814457 Loss Intracranial arachnoid cysts
16 112318 17 38560627 38814457 Loss NBR1 Intracranial arachnoid cysts
17 112319 17 38560627 38814457 Loss TMEM106A Intracranial arachnoid cysts
18 124820 19 1205797 1228434 Loss STK11 Intracranial arachnoid cysts
19 125526 19 14246734 14391382 Loss ADGRE5 Intracranial arachnoid cysts
20 125527 19 14246734 14391382 Loss DDX39A Intracranial arachnoid cysts
21 227152 7 6498207 6600621 Deletion INTS15 Intracranial arachnoid cysts
22 227153 7 6498207 6600621 Deletion GRID2IP Intracranial arachnoid cysts
23 227154 7 6498207 6600621 Deletion ZDHHC4 Intracranial arachnoid cysts
24 233699 8 12700000 19000000 Loss TUSC3 Intracranial arachnoid cysts
25 239856 8 42175206 42281148 Copy number PLAT Intracranial arachnoid cysts
26 92670 15 42468491 42598658 Copy number CTDSPL2 Intracranial arachnoid cysts
27 92669 15 42468491 42598658 Copy number GOLM2 Intracranial arachnoid cysts
28 63866 12 121446657 121547275 Copy number ZCCHC8 Intracranial arachnoid cysts
29 63865 12 121446657 121547275 Copy number CLIP1 Intracranial arachnoid cysts
30 41645 10 21822848 21949193 Loss MLLT10 Intracranial arachnoid cysts
31 41644 10 21822848 21949193 Loss SKIDA1 Intracranial arachnoid cysts
32 41643 10 21822848 21949193 Loss MIR1915HG Intracranial arachnoid cysts

Expression for Arachnoid Cysts, Intracranial

Search GEO for disease gene expression data for Arachnoid Cysts, Intracranial.

Pathways for Arachnoid Cysts, Intracranial

GO Terms for Arachnoid Cysts, Intracranial

Sources for Arachnoid Cysts, Intracranial

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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