MCID: ARC025
MIFTS: 38

Arachnoid Cysts, Intracranial

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Arachnoid Cysts, Intracranial

MalaCards integrated aliases for Arachnoid Cysts, Intracranial:

Name: Arachnoid Cysts, Intracranial 56 52 29
Arachnoid Cyst 58 29 6
Arachnoid Cysts 52 53
Intracranial Arachnoid Cysts 52

Characteristics:

Orphanet epidemiological data:

58
arachnoid cyst
Inheritance: Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
arachnoid cysts, intracranial:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

OMIM 56 207790
MESH via Orphanet 44 D016080
ICD10 via Orphanet 33 G93.0
UMLS via Orphanet 72 C0078981
Orphanet 58 ORPHA2356
MedGen 41 C0751615

Summaries for Arachnoid Cysts, Intracranial

NINDS : 53 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 spinal intradural arachnoid cysts and tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies. The drug Anesthetics has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and temporal lobe, and related phenotypes are macrocephaly and intellectual disability

NIH Rare Diseases : 52 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. Whether and how to treat the condition depends on the location and size of the cyst. 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. When treatment is recommended, it may include placing a shunt to drain the fluid; surgically removing the cyst membranes; or opening the cyst so the fluid can drain into the CSF.

OMIM : 56 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)

Wikipedia : 74 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 432)
# Related Disease Score Top Affiliating Genes
1 spinal intradural arachnoid cysts 12.9
2 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies 12.9
3 pachygyria with mental retardation, seizures, and arachnoid cysts 12.7
4 intracranial cysts 12.1
5 chudley-mccullough syndrome 12.1
6 melanosis, neurocutaneous 11.8
7 dandy-walker syndrome 11.6
8 craniopharyngioma 11.6
9 acrocallosal syndrome 11.3
10 encephalocraniocutaneous lipomatosis 11.3
11 head injury 10.7
12 syringomyelia, noncommunicating isolated 10.7
13 syringomyelia 10.7
14 ataxia and polyneuropathy, adult-onset 10.6
15 precocious puberty 10.6
16 obstructive hydrocephalus 10.6
17 spinal arachnoiditis 10.5
18 arachnoiditis 10.5
19 back pain 10.5
20 rare surgical neurologic disease 10.5
21 spastic paraparesis 10.5
22 hydrocephalus, congenital, 1 10.5
23 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
24 papilledema 10.4
25 cranial nerve palsy 10.4
26 radiculopathy 10.4
27 trigeminal neuralgia 10.4
28 meningioma, radiation-induced 10.4
29 normal pressure hydrocephalus 10.4
30 cauda equina syndrome 10.4
31 chiari malformation 10.4
32 meningioma, familial 10.4
33 spinal meningioma 10.4
34 secretory meningioma 10.4
35 lymphoplasmacyte-rich meningioma 10.4
36 aneurysm 10.4
37 sensorineural hearing loss 10.3
38 paraplegia 10.3
39 visual epilepsy 10.3
40 facial paralysis 10.3
41 epilepsy 10.3
42 bobble-head doll syndrome 10.3
43 seizure disorder 10.3
44 epidermoid cysts 10.3
45 hemifacial spasm, familial 10.3
46 neural tube defects 10.3
47 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
48 polycystic kidney disease 10.3
49 neurilemmoma 10.3
50 meningitis 10.3

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:

31
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 intellectual disability 31 HP:0001249
3 microcephaly 31 HP:0000252
4 arachnoid cyst 31 HP:0100702

Symptoms via clinical synopsis from OMIM:

56
Head:
microcephaly

Cranium:
macrocrania

Neuro:
mental retardation
arachnoid cysts

Clinical features from OMIM:

207790

Drugs & Therapeutics for Arachnoid Cysts, Intracranial

Drugs for Arachnoid Cysts, Intracranial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diffusion Weighted Magnetic Resonance Imaging for the Characterization of Solitary Pulmonary Lesions Completed NCT02482181
2 Establishing the Pathophysiology of Primary Spinal Syringomyelia Completed NCT00011245
3 How Sweet is it? Measurement of Glucose in Epidural Fluid and Fluid Obtained During Spinal Anesthesia After a Failed Epidural Using a Bedside Monitor Completed NCT01391702
4 Assessment of Cerebrospinal Fluid Flow Related Disorders Using a Phase-contrast Magnetic Resonance Imaging Technique. Recruiting NCT03656016
5 KRANIOPHARYNGEOM Registry 2019 Multicenter Registry for Patients With Childhood-onset Craniopharyngioma, Xanthogranuloma, Cysts of Rathke's Pouch, Meningioma, Pituitary Adenoma, Arachnoid Cysts Recruiting NCT04158284
6 Analysis of Change of Optic Nerve Sheath Diameter in in Patients Operated for Urological Reasons Recruiting NCT03485612
7 Non-Invasive and Non-Contact Intracranial Pressure Waveform Recording Using Dynamic Video Ophthalmoscopy Recruiting NCT04046523

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 29
2 Arachnoid Cysts, Intracranial 29

Anatomical Context for Arachnoid Cysts, Intracranial

MalaCards organs/tissues related to Arachnoid Cysts, Intracranial:

40
Spinal Cord, Brain, Temporal Lobe, Bone, Pituitary, Kidney, Myeloid

Publications for Arachnoid Cysts, Intracranial

Articles related to Arachnoid Cysts, Intracranial:

(show top 50) (show all 2149)
# Title Authors PMID Year
1
Arachnoid cyst of the middle cranial fossa: report of bilateral cysts in siblings. 61 56
7280984 1981
2
Monozygotic twins with mirror image cysts: indication of a genetic mechanism in arachnoid cysts? 56
17606888 2007
3
Familial intracranial arachnoid cysts. 56
1863926 1991
4
Arachnoid cysts in a brother and sister. 56
3225827 1988
5
Keyhole Microsurgical Middle Fossa Arachnoid Cyst Fenestration: 2-Dimensional Operative Video. 61
32035207 2020
6
Posterior Fossa Arachnoid Cyst in a Pediatric Population is Associated with Social Perception and Rest Cerebral Blood Flow Abnormalities. 61
31732920 2020
7
Neurodevelopmental and Psychiatric Symptoms in Patients with a Cyst Compressing the Cerebellum: an Ongoing Enigma. 61
31321675 2020
8
Orbitofrontal approach for the fenestration of a symptomatic sellar arachnoid cyst. 61
31966929 2020
9
Correction to: Cognitive dysfunction and subjective symptoms in patients with arachnoid cyst before and after surgery. 61
31993751 2020
10
Cognitive dysfunction and subjective symptoms in patients with arachnoid cyst before and after surgery. 61
31960141 2020
11
Value of routine ultrasound examination at 35-37 weeks' gestation in diagnosis of fetal abnormalities. 61
31595569 2020
12
Spinal arachnoid cyst and neurosurgery. 61
31948843 2020
13
Clinical performance of fixed-pressure Sphera Duo® hydrocephalus shunt. 61
32022117 2020
14
Third ventricle floor bowing: a useful measurement to predict endoscopic third ventriculostomy success in infantile hydrocephalus. 61
31792687 2020
15
Differential Clinical Presentation, Intraoperative Management Strategies, and Surgical Outcomes After Endoscopic Endonasal Treatment of Cystic Sellar Masses. 61
31505289 2020
16
Telemetric intracranial pressure monitoring in children. 61
31309286 2020
17
Prenatal diagnosis of arachnoid cysts: a case series and systematic review. 61
31897633 2020
18
Extradural Arachnoid Cyst Excision. 61
29578874 2019
19
Iatrogenic Lumbar Arachnoid Cyst Fenestration for Tethered Cord: 2-Dimensional Operative Video. 61
31838235 2019
20
The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies. 61
31794996 2019
21
Endoscopic fenestration of a posterior fossa arachnoid cyst to treat a Chiari-like headache. 61
29327862 2019
22
Association between ELP4 rs986527 polymorphism and the occurrence and development of intracranial arachnoid cyst. 61
31743616 2019
23
Postoperative patency assessment of Cystocisternostomy and Cystoventriculostomy stomas in cases with Arachnoidal cyst. 61
31865402 2019
24
The oldest presenting neurenteric cyst of the spinal cord. 61
31825252 2019
25
Anxiety and Depression in Patients with Intracranial Arachnoid Cysts-A Prospective Study. 61
31442638 2019
26
Volume change of cranial arachnoid cysts after successful endoscopic fenestration in symptomatic children. 61
31392456 2019
27
Microsurgical excision of a compressive thoracic arachnoid cyst: Technical pearls. 61
31788309 2019
28
Surgical decompression of arachnoid cysts leads to improved quality of life: a prospective study-long-term follow-up. 61
31385039 2019
29
Quantitative diagnostic advantages of three-dimensional ultrasound volume imaging for fetal posterior fossa anomalies: Preliminary establishment of a prediction model. 61
31441071 2019
30
[Magnetic resonance imaging characteristics and differential diagnosis of common sellar cystic lesions]. 61
31795542 2019
31
Diagnostic Dilemma in Discriminating Between Spinal Neurenteric Cysts and Simple Arachnoid Cysts Based on Embryogenesis and Surgical Correlation. 61
31756499 2019
32
Formation of de Novo Symptomatic Premedullary Arachnoid Cyst in Adult. 61
31301440 2019
33
Disappearance of Arachnoid Cyst after Burrhole Trephination: Case Series. 61
31720272 2019
34
Spinal cord compression secondary to traumatic intradural arachnoid cyst. 61
31611140 2019
35
Congenital interdural arachnoid cyst of the tentorium cerebelli. 61
31655875 2019
36
Spinal extradural arachnoid cyst in a child-a case report. 61
31636891 2019
37
Cerebellar arachnoid cyst masquerading initially as schizophrenia and later as obsessive compulsive disorder. 61
31706227 2019
38
The role of sacral laminoplasty in the management of spina bifida and sacral cystic lesions: case series. 61
31574475 2019
39
Spontaneous Disappearance of an Arachnoid Cyst after Burr Hole Drainage of Chronic Subdural Hematoma. 61
31720270 2019
40
Cervical Cerebrospinal Fluid Leakage Concomitant with a Thoracic Spinal Intradural Arachnoid Cyst. 61
31720280 2019
41
Quantitative fetal MRI assessment of cystic posterior fossa malformations. 61
31595598 2019
42
Arachnoid cyst in young soccer players complicated by chronic subdural hematoma: personal experience and review of the literature. 61
31654391 2019
43
Pituitary abscess following endoscopic endonasal drainage of a suprasellar arachnoid cyst: Case report and review of the literature. 61
31402262 2019
44
Pneumosinus Dilatans: An exploration into the association between Arachnoid Cyst, Meningioma and the pathogenesis of Pneumosinus Dilatans. 61
31445325 2019
45
Recurrence of a symptomatic spinal intradural arachnoid cyst 29 years after fenestration. 61
31448656 2019
46
Repetitive distortion of the spinal cord owing to a pulsating arachnoid cyst: case illustration. 61
31561233 2019
47
Spinal intradural arachnoid cyst associated with diastematomyelia in an adult: a case report and review of literature. 61
31526134 2019
48
Spinal intradural arachnoid cyst as a complication of insertion of an interspinous device. 61
31549852 2019
49
Case report: a giant arachnoid cyst masking Alzheimer's disease. 61
31488095 2019
50
Desmoplastic Infantile Ganglioglioma Masquerading as an Arachnoid Cyst. 61
31555425 2019

Variations for Arachnoid Cysts, Intracranial

ClinVar genetic disease variations for Arachnoid Cysts, Intracranial:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(2;11)(q31;q13.5)patTranslocation Uncertain significance 267865

Copy number variations for Arachnoid Cysts, Intracranial from CNVD:

7 (show all 32)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 41643 10 21822848 21949193 Loss C10orf114 Intracranial arachnoid cysts
2 41644 10 21822848 21949193 Loss C10orf140 Intracranial arachnoid cysts
3 41645 10 21822848 21949193 Loss MLLT10 Intracranial arachnoid cysts
4 57050 11 62557724 62669857 Loss SLC22A24 Intracranial arachnoid cysts
5 63865 12 121446657 121547275 Copy number CLIP1 Intracranial arachnoid cysts
6 63866 12 121446657 121547275 Copy number ZCCHC8 Intracranial arachnoid cysts
7 68816 12 51724073 51844567 Loss CSAD Intracranial arachnoid cysts
8 68817 12 51724073 51844567 Loss IGFBP6 Intracranial arachnoid cysts
9 68818 12 51724073 51844567 Loss SOAT2 Intracranial arachnoid cysts
10 68819 12 51724073 51844567 Loss SPRYD3 Intracranial arachnoid cysts
11 68820 12 51724073 51844567 Loss TENC1 Intracranial arachnoid cysts
12 70825 12 64978487 65093419 Gain ITGB7 Intracranial arachnoid cysts
13 70828 12 64978487 65093419 Gain ZNF740 Intracranial arachnoid cysts
14 86768 14 64978487 65093419 Inversion FUT8 Intracranial arachnoid cysts
15 92669 15 42468491 42598658 Copy number CASC4 Intracranial arachnoid cysts
16 92670 15 42468491 42598658 Copy number CTDSPL2 Intracranial arachnoid cysts
17 101220 16 3431656 3522375 Copy number C16orf90 Intracranial arachnoid cysts
18 101221 16 3431656 3522375 Copy number CLUAP1 Intracranial arachnoid cysts
19 101380 16 3522375 3631656 Loss BTBD12 Intracranial arachnoid cysts
20 101382 16 3522375 3631656 Loss NLRC3 Intracranial arachnoid cysts
21 106726 17 1 10700000 Loss TP53 Intracranial arachnoid cysts
22 112317 17 38560627 38814457 Loss LOC100130581 Intracranial arachnoid cysts
23 112318 17 38560627 38814457 Loss NBR1 Intracranial arachnoid cysts
24 112319 17 38560627 38814457 Loss TMEM106A Intracranial arachnoid cysts
25 124820 19 1205797 1228434 Loss STK11 Intracranial arachnoid cysts
26 125526 19 14246734 14391382 Loss CD97 Intracranial arachnoid cysts
27 125527 19 14246734 14391382 Loss DDX39 Intracranial arachnoid cysts
28 227152 7 6498207 6600621 Deletion C7orf26 Intracranial arachnoid cysts
29 227153 7 6498207 6600621 Deletion GRID2IP Intracranial arachnoid cysts
30 227154 7 6498207 6600621 Deletion ZDHHC4 Intracranial arachnoid cysts
31 233699 8 12700000 19000000 Loss N33 Intracranial arachnoid cysts
32 239856 8 42175206 42281148 Copy number PLAT 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

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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