MCID: MNN043
MIFTS: 69

Meningioma, Familial

Categories: Genetic diseases, Rare diseases, Cancer diseases, Neuronal diseases

Aliases & Classifications for Meningioma, Familial

MalaCards integrated aliases for Meningioma, Familial:

Name: Meningioma, Familial 53 28 41
Meningioma 53 12 72 49 71 36 28 13 51 14 69
Familial Meningioma 12 71 14 69
Intracranial Meningioma 12 51 69
Supratentorial Meningioma 12 69
Meningioma, Sis-Related 53 13
Meningeal Neoplasms 41 69
Meningioma, Familial, Susceptibility to 53
Meningioma, Benign, No Icd-O Subtype 69
Meningioma, Nf2-Related, Somatic 53
Familial Multiple Meningioma 55
Meningothelial Cell Neoplasm 69
Meningothelial Cell Tumor 12
Neoplasm of the Meninges 12
Primary Meningeal Tumor 12
Meningeal Neoplasm 12
Mngma 71

Characteristics:

Orphanet epidemiological data:

55
familial multiple meningioma
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
incomplete penetrance
more common in women
frequency increases with advancing age
high recurrence rate


HPO:

31
meningioma, familial:
Onset and clinical course adult onset incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Meningioma, Familial

NIH Rare Diseases : 49 Meningiomas originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are benign, though a minority of meningiomas can be classified as atypical or malignant. Though rare, malignant meningiomas can be highly aggressive. However, even benign meningiomas can cause problems if their growth affects the neighboring areas of the brain. Though most meningiomas grow slowly, there is no way to predict the rate of growth for a particular meningioma or to know how long a specific meningioma was growing before it was diagnosed. Signs and symptoms can vary but may include seizures, headaches, weakness in the arms and legs, and vision loss. Sometimes memory loss, carelessness, and unsteadiness are the only symptoms. Last updated: 10/23/2015

MalaCards based summary : Meningioma, Familial, also known as meningioma, is related to spinal meningioma and meningioma, radiation-induced, and has symptoms including ataxia, headache and syncope. An important gene associated with Meningioma, Familial is SMARCE1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1), and among its related pathways/superpathways are Gastric cancer and Cytoskeletal Signaling. Affiliated tissues include brain, spinal cord and pituitary, and related phenotypes are Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) and Increased Nanog expression

Disease Ontology : 12 A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid \

OMIM : 53 Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare (Zang, 2001). Familial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis (162091), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2; 613028) associated with a mutation in the PTEN gene (601728) developed a meningioma (Staal et al., 2002). (607174)

UniProtKB/Swiss-Prot : 71 Meningioma: A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare.

Wikipedia : 72 Meningioma, also known as meningeal tumor, is typically a slow-growing tumor that forms from the... more...

Related Diseases for Meningioma, Familial

Diseases in the Benign Meningioma family:

Meningioma, Familial

Diseases related to Meningioma, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 306)
# Related Disease Score Top Affiliating Genes
1 spinal meningioma 34.6 NF2 PDGFB PGR PTEN SMARCE1
2 meningioma, radiation-induced 34.2 NF2 PDGFB PTEN
3 lung meningioma 34.2 NF2 PGR
4 rhabdoid meningioma 34.1 GFAP NF2 SMARCB1 VIM
5 meningothelial meningioma 34.1 NF2 SMARCE1 SNRPB
6 fibrous meningioma 34.1 NF2 S100B VIM
7 chordoid meningioma 34.1 GFAP S100B VIM
8 intraventricular meningioma 34.0 GFAP NF2
9 clear cell meningioma 34.0 GFAP PGR SMARCE1 VIM
10 benign meningioma 34.0 EPB41L3 MKI67 NF2 PCNA PGR
11 olfactory groove meningioma 33.9 NF2 PGR
12 cerebral convexity meningioma 33.8 GFAP NF2
13 spinal canal and spinal cord meningioma 33.8 NF2 PGR SMARCE1
14 schwannomatosis 1 33.0 NF2 SMARCB1
15 neurofibromatosis, type ii 33.0 EPB41L3 EZR MSN NF2 RDX
16 neurofibromatosis, type iv, of riccardi 31.2 NF2 S100B SST
17 astrocytoma 31.2 GFAP PTEN S100B VIM
18 ependymoma 31.0 GFAP MKI67 NF2 S100B VIM
19 neuroma 30.9 GFAP NF2 S100B SMARCB1
20 hemangioblastoma 30.9 EZR GFAP S100B
21 meninges hemangiopericytoma 30.8 EPB41L3 GFAP VIM
22 optic nerve glioma 30.7 GFAP S100B VIM
23 chordoma 30.7 GFAP S100B VIM
24 oligodendroglioma 30.6 GFAP PCNA PTEN
25 neurilemmoma 30.3 EZR GFAP MSN NF2 S100B SMARCB1
26 tuberous sclerosis 30.2 GFAP S100B VIM
27 optic nerve sheath meningioma 12.2
28 intraorbital meningioma 12.1
29 secretory meningioma 12.0
30 lymphoplasmacyte-rich meningioma 11.9
31 cerebral meningioma 11.9
32 transitional meningioma 11.9
33 tuberculum sellae meningioma 11.9
34 skull base meningioma 11.9
35 cerebellopontine angle meningioma 11.9
36 foramen magnum meningioma 11.9
37 cavernous sinus meningioma 11.9
38 brain meningioma 11.9
39 pineal region meningioma 11.9
40 parasagittal meningioma 11.9
41 petrous apex meningioma 11.9
42 anterior cranial fossa meningioma 11.9
43 clivus meningioma 11.9
44 cerebral falx meningioma 11.9
45 petroclival meningioma 11.9
46 middle cranial fossa meningioma 11.9
47 choroid plexus meningioma 11.9
48 microcystic meningioma 11.9
49 suprasellar meningioma 11.9
50 angiomatous meningioma 11.9

Graphical network of the top 20 diseases related to Meningioma, Familial:



Diseases related to Meningioma, Familial

Symptoms & Phenotypes for Meningioma, Familial

Symptoms via clinical synopsis from OMIM:

53
Neoplasia:
meningioma


Clinical features from OMIM:

607174

Human phenotypes related to Meningioma, Familial:

31 (show top 50) (show all 66)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 occasional (7.5%) HP:0001251
2 headache 31 frequent (33%) HP:0002315
3 syncope 31 very rare (1%) HP:0001279
4 back pain 31 very rare (1%) HP:0003418
5 nausea and vomiting 31 frequent (33%) HP:0002017
6 excessive daytime somnolence 31 very rare (1%) HP:0001262
7 ophthalmoplegia 31 occasional (7.5%) HP:0000602
8 lower limb muscle weakness 31 occasional (7.5%) HP:0007340
9 hemiparesis 31 occasional (7.5%) HP:0001269
10 obesity 31 occasional (7.5%) HP:0001513
11 hydrocephalus 31 occasional (7.5%) HP:0000238
12 emotional lability 31 very rare (1%) HP:0000712
13 neurological speech impairment 31 very rare (1%) HP:0002167
14 facial palsy 31 occasional (7.5%) HP:0010628
15 increased intracranial pressure 31 occasional (7.5%) HP:0002516
16 blindness 31 very rare (1%) HP:0000618
17 hypogonadotrophic hypogonadism 31 frequent (33%) HP:0000044
18 papilledema 31 occasional (7.5%) HP:0001085
19 difficulty walking 31 occasional (7.5%) HP:0002355
20 proptosis 31 very rare (1%) HP:0000520
21 slow decrease in visual acuity 31 occasional (7.5%) HP:0007924
22 focal seizures 31 frequent (33%) HP:0007359
23 tinnitus 31 very rare (1%) HP:0000360
24 meningioma 31 HP:0002858
25 abnormality of the sense of smell 31 occasional (7.5%) HP:0004408
26 cerebral hemorrhage 31 very rare (1%) HP:0001342
27 secondary growth hormone deficiency 31 frequent (33%) HP:0008240
28 impotence 31 frequent (33%) HP:0000802
29 decreased circulating cortisol level 31 frequent (33%) HP:0008163
30 decreased serum estradiol 31 frequent (33%) HP:0008214
31 decreased testosterone in males 31 frequent (33%) HP:0008230
32 pituitary hypothyroidism 31 frequent (33%) HP:0008245
33 decreased circulating acth level 31 frequent (33%) HP:0002920
34 bitemporal hemianopia 31 frequent (33%) HP:0030521
35 abnormal kinetic perimetry test 31 occasional (7.5%) HP:0030591
36 oculomotor nerve palsy 31 occasional (7.5%) HP:0012246
37 prolactin excess 31 frequent (33%) HP:0000870
38 abnormal brain fdg positron emission tomography 31 frequent (33%) HP:0012658
39 neurofibromas 31 occasional (7.5%) HP:0001067
40 chromosomal breakage induced by ionizing radiation 31 hallmark (90%) HP:0010997
41 increased sensitivity to ionizing radiation 31 hallmark (90%) HP:0011133
42 intracranial meningioma 31 hallmark (90%) HP:0100009
43 amenorrhea 31 frequent (33%) HP:0000141
44 focal t2 hypointense thalamic lesion 31 frequent (33%) HP:0012691
45 decreased circulating follicle stimulating hormone level 31 frequent (33%) HP:0030341
46 decreased circulating luteinizing hormone level 31 frequent (33%) HP:0030344
47 upper limb muscle weakness 31 occasional (7.5%) HP:0003484
48 weak extraocular muscles 31 occasional (7.5%) HP:0007715
49 prolactin deficiency 31 occasional (7.5%) HP:0008202
50 hypothalamic hypothyroidism 31 occasional (7.5%) HP:0008237

UMLS symptoms related to Meningioma, Familial:


seizures, headache

GenomeRNAi Phenotypes related to Meningioma, Familial according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.26 ESR1 MKI67 PCNA PTEN
2 Increased Nanog expression GR00371-A-1 9.02 MKI67 PCNA SMARCB1 SMARCE1
3 Increased Nanog expression GR00371-A-2 9.02 SMARCE1

MGI Mouse Phenotypes related to Meningioma, Familial:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.29 ESR1 GFAP MN1 NF2 PGR PTEN
2 homeostasis/metabolism MP:0005376 10.27 ESR1 GFAP MN1 NF2 PDGFB PGR
3 mortality/aging MP:0010768 10.27 EPB41L3 ESR1 EZR GFAP MN1 NF2
4 immune system MP:0005387 10.25 PCNA PDGFB PGR PTEN SMARCB1 SMARCE1
5 digestive/alimentary MP:0005381 10.1 SUFU ESR1 EZR GFAP MN1 PTEN
6 embryo MP:0005380 10.08 ESR1 NF2 PDGFB PGR PTEN SMARCB1
7 nervous system MP:0003631 10 EPB41L3 ESR1 GFAP NF2 PDGFB PTEN
8 liver/biliary system MP:0005370 9.95 RDX SMARCB1 SUFU ESR1 NF2 PDGFB
9 neoplasm MP:0002006 9.92 EPB41L3 ESR1 MN1 NF2 PGR PTEN
10 no phenotypic analysis MP:0003012 9.7 ESR1 MKI67 PCNA PDGFB PGR SST
11 normal MP:0002873 9.65 EPB41L3 ESR1 GFAP MKI67 MSN PGR
12 reproductive system MP:0005389 9.32 EPB41L3 ESR1 NF2 PCNA PDGFB PGR

Drugs & Therapeutics for Meningioma, Familial

Search Clinical Trials , NIH Clinical Center for Meningioma, Familial

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: meningeal neoplasms

Genetic Tests for Meningioma, Familial

Genetic tests related to Meningioma, Familial:

# Genetic test Affiliating Genes
1 Meningioma, Familial 28 MN1 NF2 PDGFB PTEN SMARCE1 SUFU
2 Meningioma 28

Anatomical Context for Meningioma, Familial

MalaCards organs/tissues related to Meningioma, Familial:

38
Brain, Spinal Cord, Pituitary, Testes, Tongue

Publications for Meningioma, Familial

Articles related to Meningioma, Familial:

(show top 50) (show all 2617)
# Title Authors Year
1
Microsurgical Resection of Lateral Tuberculum Sellae Meningioma: Operative Video. ( 29404260 )
2018
2
Intracranial Erdheim-Chester Disease Mimicking Parafalcine Meningioma: Report of Two Cases and Review of the Literature. ( 29191545 )
2018
3
Chordoid meningioma: a clinico-pathological study of an uncommon variant of meningioma. ( 29380221 )
2018
4
Pearls & Oy-sters: Persistent elevation of serum carcinoembryonic antigen in secretory meningioma. ( 29438031 )
2018
5
Pediatric nondura-based clear cell meningioma of the cauda equina: case report and review of literature. ( 29363346 )
2018
6
Utility of 3D printed models in enhancing the learning curve of surgery of tuberculum sellae meningioma. ( 29432945 )
2018
7
Tuberculum Sellae Meningioma Resection: Technical Nuances on the Frontopterional Approach. ( 29404262 )
2018
8
Right Far-Lateral Approach for Resection of Foramen Magnum Meningioma: 3-Dimensional Operative Video. ( 29444272 )
2018
9
Contralateral Eyebrow Approach for Unilateral Suprasellar Meningioma. ( 29404257 )
2018
10
Optic Nerve Meningioma Mimicking Cavernous Hemangioma. ( 29191527 )
2018
11
Analysis of petrous apex meningocele associated with meningioma: is there any relation with chronic intracranial hypertension? ( 29188303 )
2018
12
The Radiographic Effects of Surgical Approach and Use of Retractors on the Brain After Anterior Cranial Fossa Meningioma Resection. ( 29367000 )
2018
13
Teaching Case 2-2018: Sclerosing myxopapillary ependymoma mimicking whorling-sclerosing meningioma. ( 29436365 )
2018
14
Microsurgical Resection of Tuberculum Sellae Meningioma through Left Cranio-orbital Approach. ( 29404261 )
2018
15
Meningeal marginal zone B-cell lymphoma: The meningioma trap. ( 29331570 )
2018
16
Neurogenic Pulmonary Edema and Stunned Myocardium in a Patient With Meningioma: A Heart-Brain Cross Talk. ( 29432276 )
2018
17
A thoracic extradural chordoid meningioma: a unique case report and literature review. ( 29355032 )
2018
18
Prognostic factors for olfactory groove meningioma with nasal cavity extension. ( 29435128 )
2018
19
Jugular Foramen Meningioma. ( 29342045 )
2018
20
An Unusual Case of Meningioma Showing Increased CaSR Expression with Parathyroid Carcinoma. ( 29388399 )
2018
21
Microsurgical Resection of Tuberculum Sellae Meningioma via Pterional Craniotomy with Extradural Anterior Clinoidectomy and Optic Unroofing. ( 29404258 )
2018
22
Modified One-Piece Extended Transbasal Approach for Endoscopic-Assisted Microsurgical Resection of Tuberculum Sellae Meningioma: Operative Video and Technical Nuances. ( 29404256 )
2018
23
Lumbar Drains Decrease the Risk of Postoperative Cerebrospinal Fluid Leak Following Endonasal Endoscopic Surgery for Suprasellar Meningiomas in Patients With High Body Mass Index. ( 29253284 )
2018
24
Erratum: Combined petrosal approach for petroclival meningioma. ( 29291294 )
2018
25
Rapid recovery of vision following early intervention with fractionated stereotactic radiotherapy for optic nerve sheath meningioma. ( 29430199 )
2018
26
Resection of Petroclival Meningioma Through Retrosigmoid Approach-Concepts and Nuances: 3- Dimensional Operative Video. ( 29444298 )
2018
27
Spontaneous regression of a large skull base meningioma: case report. ( 29334772 )
2018
28
Moyamoya Disease Associated with Tuberculum Sellae Meningioma and Cavernous Sinus Hemangioma. ( 28958924 )
2018
29
Chromosomal aberrations in chordoid meningioma - An analysis. ( 29322978 )
2018
30
Primary Intraosseous Lymphoplasmacyte-Rich Meningioma. ( 28962957 )
2018
31
Combined petrosal approach for petroclival meningioma. ( 28967316 )
2017
32
The anti-apoptotic protein survivin can improve the prognostication of meningioma patients. ( 28953948 )
2017
33
Surgery versus stereotactic radiosurgery for the treatment of multiple meningiomas in neurofibromatosis type 2: illustrative case and systematic review. ( 28900754 )
2017
34
Innate immunity may play a role in growth and relapse of chordoid meningioma. ( 28885077 )
2017
35
Prediction of Histological Grade and Completeness of Resection of Intracranial Meningiomas: Role of Peritumoural Brain Edema. ( 28814931 )
2017
36
Parasagittal meningioma: A not so benign entity. ( 28927324 )
2017
37
Sphenoid wing en plaque meningioma development following craniopharyngioma surgery and radiotherapy: Radiation-induced after three decades. ( 28761508 )
2017
38
Cytoplasmic overexpression of RNA-binding protein HuR is a marker of poor prognosis in meningioma, and HuR knockdown decreases meningioma cell growth and resistance to hypoxia. ( 28493484 )
2017
39
Report of a Novel Case of Anaplastic Olfactory Groove Meningioma and Its Methylation Subtype. ( 29045680 )
2017
40
SMARCE1 mutation screening in classification of clear cell meningiomas. ( 27891692 )
2017
41
Bilateral caudate nucleus infarcts: A case report of a rare complication following endoscopic resection of a tuberculum sellae meningioma. ( 29026671 )
2017
42
Genetic changes of MLH1 and MSH2 genes could explain constant findings on microsatellite instability in intracranial meningioma. ( 28705114 )
2017
43
MCM7 expression is a promising predictor of recurrence in patients surgically resected for meningiomas. ( 27868157 )
2017
44
Spontaneous subdural hematoma associated with microcystic meningioma: first case report in the literature. ( 28660808 )
2017
45
The Art of Mimicry: Anterior Clinoid Dural-Based Cavernous Hemangioma Mistaken for a Meningioma. ( 28214640 )
2017
46
Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas. ( 28170043 )
2017
47
Letter to the Editor. Neuropsychological impairment and quality of life after skull base meningioma resection: size and location matter. ( 28960157 )
2017
48
Parasagittal Meningioma (Posterior Third) Occluding the Superior Sagittal Sinus: Complete Resection and Venous Repair: 3-Dimensional Operative Video. ( 28927222 )
2017
49
Loss of SMARCE1 expression is a specific diagnostic marker of clear cell meningioma: a comprehensive immunophenotypical and molecular analysis. ( 28474749 )
2017
50
Somatostatin Receptor SPECT/CT using (99m)Tc Labeled HYNIC-TOC Aids in Diagnosis of Primary Optic Nerve Sheath Meningioma. ( 28242992 )
2017

Variations for Meningioma, Familial

ClinVar genetic disease variations for Meningioma, Familial:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.701G> A (p.Arg234Gln) single nucleotide variant risk factor rs121909235 GRCh37 Chromosome 10, 89717676: 89717676
2 PDGFB PDGFB, 135-BP DEL, IVS5 deletion Pathogenic
3 AKT1 NM_005163.2(AKT1): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434592 GRCh37 Chromosome 14, 105246551: 105246551
4 SMARCE1 NM_003079.4(SMARCE1): c.218A> G (p.Tyr73Cys) single nucleotide variant Pathogenic/Likely pathogenic rs387906857 GRCh37 Chromosome 17, 38793763: 38793763
5 SUFU NM_016169.3(SUFU): c.367C> T (p.Arg123Cys) single nucleotide variant risk factor rs202247756 GRCh37 Chromosome 10, 104309776: 104309776
6 SMARCE1 NM_003079.4(SMARCE1): c.572dupC (p.Ala192Serfs) duplication risk factor rs397509408 GRCh38 Chromosome 17, 40632337: 40632337
7 SMARCE1 NM_003079.4(SMARCE1): c.715C> T (p.Arg239Ter) single nucleotide variant risk factor rs397509405 GRCh37 Chromosome 17, 38787945: 38787945
8 SMARCE1 NM_003079.4(SMARCE1): c.237+2T> C single nucleotide variant risk factor rs397509406 GRCh37 Chromosome 17, 38793742: 38793742
9 SMARCE1 NM_003079.4(SMARCE1): c.311G> A (p.Trp104Ter) single nucleotide variant risk factor rs397509407 GRCh37 Chromosome 17, 38792705: 38792705
10 NF2 NM_000268.3(NF2): c.995delA (p.Lys332Serfs) deletion Pathogenic rs587776563 GRCh37 Chromosome 22, 30064431: 30064431
11 NF2 NM_000268.3(NF2): c.169C> T (p.Arg57Ter) single nucleotide variant Pathogenic rs121434259 GRCh37 Chromosome 22, 30032794: 30032794
12 SMARCE1 NM_003079.4(SMARCE1): c.624_627delTGAG (p.Ser208Argfs) deletion Pathogenic rs797045990 GRCh38 Chromosome 17, 40632282: 40632285
13 SMARCE1 NM_003079.4(SMARCE1): c.525delT (p.Ala176Leufs) deletion Pathogenic rs878854603 GRCh38 Chromosome 17, 40635947: 40635947
14 SMARCE1 NM_003079.4(SMARCE1): c.313C> T (p.Arg105Ter) single nucleotide variant Pathogenic rs1060501395 GRCh38 Chromosome 17, 40636451: 40636451
15 SMARCE1 NM_003079.4(SMARCE1): c.757C> T (p.Gln253Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 40631651: 40631651

Cosmic variations for Meningioma, Familial:

9 (show top 50) (show all 2216)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM216037 SMO meninges,NS,meningioma,meningothelial c.1234C>T p.L412F 24
2 COSM13146 SMO meninges,NS,meningioma,meningothelial c.1604G>T p.W535L 24
3 COSM86033 NF2 meninges,NS,meningioma,meningothelial c.1264G>T p.E422* 24
4 COSM22339 NF2 meninges,NS,meningioma,meningothelial c.364-1G>C p.? 24
5 COSM23845 NF2 meninges,NS,meningioma,meningothelial c.552G>A p.W184* 24
6 COSM22210 NF2 meninges,NS,meningioma,meningothelial c.1198C>T p.Q400* 24
7 COSM49113 NF2 meninges,NS,meningioma,meningothelial c.955C>T p.Q319* 24
8 COSM24552 NF2 meninges,NS,meningioma,meningothelial c.1341-2A>G p.? 24
9 COSM49112 NF2 meninges,NS,meningioma,meningothelial c.517-1G>A p.? 24
10 COSM22000 NF2 meninges,NS,meningioma,meningothelial c.784C>T p.R262* 24
11 COSM22306 NF2 meninges,NS,meningioma,meningothelial c.600-3C>G p.? 24
12 COSM24551 NF2 meninges,NS,meningioma,meningothelial c.241-2A>C p.? 24
13 COSM22301 NF2 meninges,NS,meningioma,meningothelial c.1340+1G>A p.? 24
14 COSM22273 NF2 meninges,NS,meningioma,meningothelial c.1341-1G>A p.? 24
15 COSM22294 NF2 meninges,NS,meningioma,meningothelial c.551G>A p.W184* 24
16 COSM33765 AKT1 meninges,NS,meningioma,meningothelial c.49G>A p.E17K 24
17 COSM22300 NF2 meninges,NS,meningioma,atypical c.115-1G>C p.? 23
18 COSM22249 NF2 meninges,NS,meningioma,atypical c.1009C>T p.Q337* 23
19 COSM22240 NF2 meninges,NS,meningioma,atypical c.634C>T p.Q212* 23
20 COSM21991 NF2 meninges,NS,meningioma,atypical c.169C>T p.R57* 23
21 COSM24538 NF2 meninges,NS,meningioma,atypical c.810+1G>A p.? 23
22 COSM22254 NF2 meninges,NS,meningioma,atypical c.586C>T p.R196* 23
23 COSM23850 NF2 meninges,NS,meningioma,atypical c.447+1G>A p.? 23
24 COSM22299 NF2 meninges,NS,meningioma,atypical c.114+1G>T p.? 23
25 COSM5702591 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 11
26 COSM5702574 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 11
27 COSM5702592 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 11
28 COSM40802 ZW10 central nervous system,brain,glioma,NS c.2140C>T p.P714S 7
29 COSM40801 ZSWIM4 central nervous system,brain,glioma,NS c.266C>T p.P89L 7
30 COSM39611 ZPLD1 central nervous system,brain,glioma,NS c.393A>T p.G131G 7
31 COSM40237 ZNF687 central nervous system,brain,glioma,NS c.3651C>T p.T1217T 7
32 COSM39318 ZNF687 central nervous system,brain,glioma,NS c.2044T>A p.C682S 7
33 COSM39317 ZNF687 central nervous system,brain,glioma,NS c.2043G>C p.Q681H 7
34 COSM39149 ZNF507 central nervous system,brain,glioma,NS c.1517G>C p.R506T 7
35 COSM40794 ZNF473 central nervous system,brain,glioma,NS c.42C>T p.D14D 7
36 COSM39217 ZMYND8 central nervous system,brain,glioma,NS c.2162T>G p.V721G 7
37 COSM40504 ZMYND8 central nervous system,brain,glioma,NS c.2176G>A p.D726N 7
38 COSM5977724 ZMYM2 central nervous system,spinal cord,glioma,NS c.1134-1G>T p.? 7
39 COSM5977723 ZMYM2 central nervous system,spinal cord,glioma,NS c.1134-1G>T p.? 7
40 COSM39507 ZMAT4 central nervous system,brain,glioma,NS c.76G>A p.E26K 7
41 COSM39445 ZIC1 central nervous system,brain,glioma,NS c.57G>A p.A19A 7
42 COSM40870 ZFC3H1 central nervous system,brain,glioma,NS c.1055G>A p.S352N 7
43 COSM40793 ZFAT central nervous system,brain,glioma,NS c.1006G>A p.V336M 7
44 COSM40680 ZEB1 central nervous system,brain,glioma,NS c.1913C>T p.S638L 7
45 COSM41152 ZC3H6 central nervous system,brain,glioma,NS c.2254G>T p.G752* 7
46 COSM40778 ZBTB4 central nervous system,brain,glioma,NS c.2842C>T p.L948F 7
47 COSM40777 ZBTB24 central nervous system,brain,glioma,NS c.1886C>T p.P629L 7
48 COSM39508 ZBTB21 central nervous system,brain,glioma,NS c.997G>A p.G333S 7
49 COSM40776 ZBTB16 central nervous system,brain,glioma,NS c.413C>T p.A138V 7
50 COSM41039 YWHAH central nervous system,brain,glioma,NS c.169C>T p.R57* 7

Copy number variations for Meningioma, Familial from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 81307 14 101400000 103200000 Loss Meningioma
2 109410 17 25800000 38100000 Copy number HER-2 Meningioma
3 116388 17 6500000 10700000 Copy number TP53 Meningioma

Expression for Meningioma, Familial

Search GEO for disease gene expression data for Meningioma, Familial.

Pathways for Meningioma, Familial

GO Terms for Meningioma, Familial

Cellular components related to Meningioma, Familial according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 9.65 EZR GFAP NF2
2 myelin sheath GO:0043209 9.62 EZR GFAP MSN RDX
3 microvillus GO:0005902 9.58 EZR MSN RDX
4 SWI/SNF complex GO:0016514 9.56 SMARCB1 SMARCE1
5 nBAF complex GO:0071565 9.55 SMARCB1 SMARCE1
6 cell periphery GO:0071944 9.54 EZR MSN RDX
7 npBAF complex GO:0071564 9.51 SMARCB1 SMARCE1
8 uropod GO:0001931 9.49 EZR MSN
9 invadopodium GO:0071437 9.46 EZR MSN
10 ruffle GO:0001726 9.46 EZR NF2 RDX S100B
11 astrocyte projection GO:0097449 9.43 EZR GFAP
12 cell tip GO:0051286 9.26 EZR RDX
13 apical part of cell GO:0045177 9.26 EZR MSN NF2 RDX
14 filopodium GO:0030175 8.92 EZR MSN NF2 RDX
15 cytoplasm GO:0005737 10.38 EPB41L3 ESR1 EZR GFAP MSN NF2
16 cell projection GO:0042995 10 EZR GFAP MSN NF2 PTEN VIM

Biological processes related to Meningioma, Familial according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.88 EZR MSN PDGFB PTEN RDX VIM
2 response to estradiol GO:0032355 9.77 ESR1 PCNA PTEN
3 chromatin remodeling GO:0006338 9.75 ESR1 SMARCB1 SMARCE1
4 long-term synaptic potentiation GO:0060291 9.65 GFAP PTEN S100B
5 regulation of cell shape GO:0008360 9.65 EPB41L3 EZR MSN RDX S100B
6 regulation of cell size GO:0008361 9.61 EZR MSN RDX
7 establishment of epithelial cell apical/basal polarity GO:0045198 9.58 EZR MSN
8 protein kinase A signaling GO:0010737 9.57 EZR RDX
9 cytoskeletal anchoring at plasma membrane GO:0007016 9.56 EPB41L3 EZR
10 negative regulation of cell size GO:0045792 9.55 PTEN RDX
11 gland morphogenesis GO:0022612 9.54 EZR MSN
12 establishment of endothelial barrier GO:0061028 9.54 EZR MSN RDX
13 Bergmann glial cell differentiation GO:0060020 9.52 GFAP VIM
14 paracrine signaling GO:0038001 9.51 PDGFB PGR
15 positive regulation of cellular protein catabolic process GO:1903364 9.5 EZR MSN RDX
16 membrane to membrane docking GO:0022614 9.49 EZR MSN
17 intermediate filament-based process GO:0045103 9.46 GFAP VIM
18 positive regulation of early endosome to late endosome transport GO:2000643 9.33 EZR MSN RDX
19 positive regulation of protein localization to early endosome GO:1902966 9.13 EZR MSN RDX
20 regulation of organelle assembly GO:1902115 8.8 EZR MSN RDX

Molecular functions related to Meningioma, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.8 ESR1 MSN PCNA PGR PTEN
2 actin binding GO:0003779 9.77 EPB41L3 EZR MSN NF2 RDX
3 identical protein binding GO:0042802 9.76 ESR1 GFAP PCNA PDGFB PGR PTEN
4 structural constituent of cytoskeleton GO:0005200 9.56 EPB41L3 GFAP MSN VIM
5 platelet-derived growth factor receptor binding GO:0005161 9.46 PDGFB PTEN
6 S100 protein binding GO:0044548 9.43 EZR S100B
7 ATPase binding GO:0051117 9.26 ESR1 EZR PGR RDX
8 cytoskeletal protein binding GO:0008092 9.02 EPB41L3 EZR MSN NF2 RDX
9 protein binding GO:0005515 10.28 EPB41L3 ESR1 EZR GFAP MKI67 MSN

Sources for Meningioma, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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