Arachnoid Cysts, Intracranial disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Endocrine diseases Eye diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the nervous system

Other disorders of the nervous system

Other disorders of brain

Cerebral cysts

ICD11: ³³

Diseases of the nervous system

Disorders of cerebrospinal fluid pressure or flow

Intracranial arachnoid cyst

Orphanet: ⁵⁸

Rare neurological diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 207790

MESH via Orphanet ⁴⁴ D016080

ICD10 via Orphanet ³² G93.0

UMLS via Orphanet ⁷² C0078981

Orphanet ⁵⁸ ORPHA2356

MedGen ⁴⁰ C0751615

ICD11 ³³ 943887241

UMLS ⁷¹ C0078981 C0751615

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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...

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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:

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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

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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

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Genetic Tests for Arachnoid Cysts, Intracranial

Genetic tests related to Arachnoid Cysts, Intracranial:

#	Genetic test	Affiliating Genes
1	Arachnoid Cyst ²⁸

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Anatomical Context for Arachnoid Cysts, Intracranial

Organs/tissues related to Arachnoid Cysts, Intracranial:

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

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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	Helland CA...Wester K	17606888	2007
2	Familial intracranial arachnoid cysts. ⁶² ⁵⁷	Pomeranz S...Amir N	1863926	1991
3	Arachnoid cysts in a brother and sister. ⁶² ⁵⁷	Wilson WG...Dreifuss FE	3225827	1988
4	Arachnoid cyst of the middle cranial fossa: report of bilateral cysts in siblings. ⁶² ⁵⁷	Handa J...Sato M	7280984	1981
5	Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report. ⁶²	Uzman CY...Bozkaya OG	35776137	2023
6	Prenatally Symptomatic Suprasellar Arachnoid Cyst: When to treat? A case-base update. ⁶²	Silva Baticam N...Roujeau T	35907443	2022
7	Arachnoid cysts: using prenatal imaging and need for pediatric neurosurgical intervention to better understand their natural history and prognosis. ⁶²	Grossman TB...Hoffman CE	33397177	2022
8	Clinical and imaging features of spinal extradural arachnoid cysts: a retrospective study of 50 cases. ⁶²	Ahmed AK...Vibhute P	35970946	2022
9	Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations. ⁶²	Zhi Y...Zhao L	36464758	2022
10	Intracranial cysts: incidental or neurodevelopmental? ⁶²	Dirik MA...Sanlidag B	36323954	2022
11	Further characterization of NFIB-associated phenotypes: Report of two new individuals. ⁶²	Marinella G...Battaglia A	36321570	2022
12	Relative prevalence and outcome of fetal posterior fossa abnormality. ⁶²	Garg N...Roy Chaudhary S	36318816	2022
13	Novel use of nonpenetrating titanium clips for pediatric primary spinal dural closure: A technical note. ⁶²	Shahrestani S...Levy ML	36084429	2022
14	Clinical application of 3D Slicer combined with Sina/MosoCam multimodal system in preoperative planning of brain lesions surgery. ⁶²	Zhou L...Cai Q	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	Tomita T...Dipatri AJ	36348036	2022
16	Tinnitus Triggered by a Cerebellopontine Arachnoid Cyst in an Adolescent. ⁶²	Olsson SE...Kou YF	36437563	2022
17	Diagnosis and treatment of MN1 C-terminal truncation syndrome. ⁶²	Yu J...Zhao Z	36124717	2022
18	Intraoperative high-field resonance: How to optimize its use in our healthcare system. ⁶²	Limpo H...Tejada S	34625382	2022
19	Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst. ⁶²	Chanclud J...Garel C	36274068	2022
20	Nonneoplastic and noninfective cysts of the central nervous system: A histopathological study. ⁶²	Poyuran R...Narasimhaiah D	36210745	2022
21	Dis(appearance) of an Arachnoid Cyst: A Follow-up Imaging Perspective. ⁶²	Abreu VS...Alves JE	36180735	2022
22	Bobble-head doll syndrome in an infant with an arachnoid cyst: a case report. ⁶²	Doya LJ...Jouni O	36303240	2022
23	Scalpel sign: Dorsal thoracic arachnoid web, thoracic arachnoid cyst and ventral cord herniation. ⁶²	Buntting CS...Nair G	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	Sun Y...Zhao Y	36221391	2022
25	Late Onset Symptomatic Enlargement of Treated Spinal Intradural Neurocysticercosis Cyst. ⁶²	Gorjian M...Ricks C	36147766	2022
26	Mechanical Complications of Sophysa SM8 Shunt in Adult Hydrocephalus: A Monocentric Experience. ⁶²	Coll G...Abed Rabbo F	36001762	2022
27	Cognitive impairment in epilepsy patients and its correlations. ⁶²	Arslan G...Demir B	36269892	2022
28	Prevalence of incidental intracranial findings on magnetic resonance imaging: a systematic review and meta-analysis. ⁶²	Sunny DE...Javadpour M	35525892	2022
29	Sylvian arachnoid cysts in children: "is all quiet on the western front?" ⁶²	Kahilogullari G	36258050	2022
30	The unique features of middle cranial fossa and Sylvian fissure arachnoid cysts in children: MRI evaluation. ⁶²	Sahap SK...Fitoz S	36266364	2022
31	The Efficacy and Tolerability of Electroconvulsive Therapy in Psychiatric Patients with Arachnoid Cysts: A Retrospective Chart Study. ⁶²	Lu Y...Li X	36291326	2022
32	Surgical indications in pediatric arachnoid cysts. ⁶²	Beltagy MAE...Enayet AER	36284010	2022
33	Intracranial drainage versus extracranial shunt in the treatment of intracranial arachnoid cysts: a meta-analysis. ⁶²	Gong W...Tian CL	35723726	2022
34	Clinical variety and prognosis of intracranial arachnoid cysts in children. ⁶²	Junger ST...Messing-Junger M	35657443	2022
35	Ruptured Sylvian arachnoid cysts: an update on a real problem. ⁶²	Massimi L...Tamburrini G	36169701	2022
36	Clinical value of classification in the treatment of children with suprasellar arachnoid cysts. ⁶²	Zhao H...Ma J	36065031	2022
37	Effectiveness of multiple endoscopic fenestrations for the treatment of Sylvian fissure arachnoid cysts: a multicenter study. ⁶²	Guler TM...Etus V	36166054	2022
38	A Rare Triad of Lateral Rectus Palsy, Sylvain Fissure Bleed, and Bilateral SDH Shrouding a Benign Pathology. ⁶²	Meena RK...Chandra PS	36352626	2022
39	A neonatal purely prepontine arachnoid cyst: a case report and review of the literature. ⁶²	Endo M...Ogiwara H	35532779	2022
40	First Ever Case of an Atypical, Cerebral Hemispheric Dermoid Cyst Masquerading as an Arachnoid Cyst - A "Mirage". ⁶²	Sarkar H	36352681	2022
41	Spinal extradural arachnoid cyst: A rare cause of thoracic myelopathy. ⁶²	Savage AJ...Chan P	35769918	2022
42	Thoracic spinal arachnoid cyst in a pediatric patient presenting with isolated bladder and bowel incontinence. ⁶²	Fischer KM...Long CJ	35800148	2022
43	Minimally invasive, indirect corneal neurotization using an ipsilateral sural nerve graft for early neurotrophic keratopathy. ⁶²	Lee BWH...Samarawickrama C	35664449	2022
44	Factors Associated with Nontraumatic Spontaneous Subdural Hematomas in Pediatric Patients. ⁶²	Aydin SO...Ramazanoglu AF	35793697	2022
45	Optic nerve ultrasonography in the evaluation of the relationship between arachnoid cyst and headache. ⁶²	Sarigecili E...Dilek O	35460353	2022
46	Chronic hematoma superimposed to a large frontotemporal arachnoid cyst: evidence against crowding of audioverbal memory. ⁶²	Patrikelis P...Nasios G	36062415	2022
47	Epilepsy and cognitive deterioration as postoperative complications of the arachnoid cyst fenestration: Case report. ⁶²	Kwiatkowska K...Kwiatkowski S	33103580	2022
48	Cochlear Implant in a Child with a Large Arachnoid Cyst and Cysto-peritoneal Shunt. ⁶²	Mittal AA...Dutt SN	36032920	2022
49	How to locate the dural defect in a spinal extradural meningeal cyst: a literature review. ⁶²	Jian Q...Chen Z	36045421	2022
50	Endoscopic Management of Lateral Ventricle Arachnoid Cysts-Case Series with Proposed Classification. ⁶²	Panigrahi M...Vooturi S	35525436	2022

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Genes for Arachnoid Cysts, Intracranial

Genes related to Arachnoid Cysts, Intracranial (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	GPHN	Gephyrin	Protein Coding	400	Pathogenic ⁵
2	PALS1	Protein Associated With LIN7 1, MAGUK P55 Family Member	Protein Coding	400	Pathogenic ⁵
3	ARX	Aristaless Related Homeobox	Protein Coding	25	Likely pathogenic ⁵

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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

Sources

Expression for Arachnoid Cysts, Intracranial

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

Sources

Pathways for Arachnoid Cysts, Intracranial

Sources

GO Terms for Arachnoid Cysts, Intracranial

Sources

Sources for Arachnoid Cysts, Intracranial

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ARC025 MIFTS: 45	Arachnoid Cysts, Intracranial Categories: Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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