Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
Release Notes Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MNGMA
MCID: MNN043
MIFTS: 81

Meningioma, Familial (MNGMA)

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:
[email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Meningioma, Familial

About this section

MalaCards integrated aliases for Meningioma, Familial:

Name: Meningioma, Familial 57 43
Meningioma 57 11 19 58 75 73 28 12 53 5 14 71
Familial Meningioma 11 73 28 5 14 71
Meningioma, Familial, Susceptibility to 57 38
Meningeal Neoplasms 5 71
Meningeal Neoplasm 11 16
Meningiomas 14 33
Meningothelial Sarcoma of Unspecified Site 33
Meningeal Sarcoma of Unspecified Site 33
Meningioma, Benign, No Icd-O Subtype 71
Primary Neoplasm of Spinal Meninges 33
Meningioma, Nf2-Related, Somatic 57
Benign Intracranial Meningioma 33
Familial Multiple Meningioma 58
Meningothelial Cell Neoplasm 71
Supratentorial Meningioma 71
Meningothelial Cell Tumor 11
Neoplasm of the Meninges 11
Meningioma, Sis-Related 57
Intracranial Meningioma 71
Primary Meningeal Tumor 11
Benign Meningioma 33
Meningeal Tumours 33
Mngma 73

Characteristics:


Inheritance:

Meningioma, Familial: Autosomal dominant 57
Familial Multiple Meningioma: Autosomal dominant 58

Prevelance:

Meningioma: 1-9/100000 (Germany, United States) 58

Age Of Onset:

Meningioma: All ages 58
Familial Multiple Meningioma: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
adult onset
incomplete penetrance
more common in women
frequency increases with advancing age
high recurrence rate


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


Sources

Summaries for Meningioma, Familial

About this section

GARD: 19 Meningiomas are tumors that originate in the meninges, the membranes that surround the brain and spinal cord. Most Meningiomas are not cancerous (benign), though a minority of Meningiomas can be classified as atypical or cancerous (malignant). Though rare, malignant Meningiomas can be highly aggressive. However, even benign Meningiomas can cause problems if their growth affects 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.

MalaCards based summary: Meningioma, Familial, also known as meningioma, is related to spinal meningioma and intracranial meningioma, and has symptoms including headache and seizures. 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 Signal Transduction and Breast cancer pathway. The drugs Thrombin and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and pituitary, and related phenotypes are chromosomal breakage induced by ionizing radiation and increased sensitivity to ionizing radiation

Orphanet 58 Meningioma: A rare, mostly benign, neoplastic disease characterized by a primary tumor of the meninges, usually located intracranially (~90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumor and may include seizures, focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control.

Familial multiple meningioma: Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.

OMIM®: 57 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.

Wikipedia: 75 Meningioma, also known as meningeal tumor, is typically a slow-growing tumor that forms from the... more...
Sources

Related Diseases for Meningioma, Familial

About this section

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 1402)
# Related Disease Score Top Affiliating Genes
1 spinal meningioma 33.5 TRAF7 SMARCE1 SMARCB1 PGR NF2
2 intracranial meningioma 33.4 TRAF7 SMARCE1 SMARCB1 PGR NF2
3 rhabdoid meningioma 33.3 TRAF7 TERT SUFU SMARCE1 SMARCB1 NF2
4 meningothelial meningioma 33.2 TRAF7 TERT SUFU SMARCE1 SMARCB1 PGR
5 skull base meningioma 33.1 TRAF7 TERT SMO SMARCE1 SMARCB1 PIK3CA
6 fibrous meningioma 33.1 TRAF7 SMARCE1 SMARCB1 PGR NF2
7 transitional meningioma 33.1 TRAF7 SMARCE1 SMARCB1 PGR NF2
8 clear cell meningioma 33.1 TRAF7 TERT SUFU SMARCE1 SMARCB1 PGR
9 benign meningioma 33.1 TRAF7 TERT PGR NF2 EPB41L3
10 secretory meningioma 33.0 TRAF7 SUFU SMARCE1 SMARCB1 NF2
11 chordoid meningioma 33.0 TRAF7 SMARCB1 PGR NF2
12 optic nerve sheath meningioma 32.9 TRAF7 SMARCB1 NF2
13 parasagittal meningioma 32.9 TRAF7 SUFU SMARCE1 SMARCB1 NF2
14 cerebral meningioma 32.9 TRAF7 SMARCE1 PGR NF2
15 olfactory groove meningioma 32.9 TRAF7 SMARCE1 SMARCB1 NF2
16 cerebral falx meningioma 32.9 TRAF7 SUFU SMARCE1 SMARCB1 NF2
17 cavernous sinus meningioma 32.9 TRAF7 SMARCE1 NF2
18 lung meningioma 32.9 PGR NF2
19 brain meningioma 32.9 TRAF7 SMO SMARCE1 SMARCB1 PGR NF2
20 anterior cranial fossa meningioma 32.8 TRAF7 SUFU SMARCE1 SMARCB1 NF2
21 childhood meningioma 32.8 TRAF7 SMARCE1 SMARCB1 NF2
22 intraventricular meningioma 32.8 TRAF7 TERT SMARCE1 NF2
23 bap1 tumor predisposition syndrome 32.8 TERT SUFU SMARCE1 SMARCB1 PTEN NF2
24 microcystic meningioma 32.8 TRAF7 SMARCE1 NF2
25 angiomatous meningioma 32.8 TRAF7 SMARCE1 NF2
26 psammomatous meningioma 32.8 TRAF7 PGR NF2
27 cerebral convexity meningioma 32.8 TRAF7 SUFU SMARCE1 SMARCB1 NF2
28 foramen magnum meningioma 32.7 TRAF7 NF2
29 tuberculum sellae meningioma 32.7 TRAF7 NF2
30 cerebellopontine angle meningioma 32.7 SMARCE1 NF2
31 sphenoorbital meningioma 32.7 TRAF7 SMARCE1 NF2
32 pineal region meningioma 32.6 SMARCB1 NF2
33 spinal canal and spinal cord meningioma 32.6 TRAF7 SMARCE1 SMARCB1 PGR NF2
34 petroclival meningioma 32.6 TRAF7 NF2
35 tumor predisposition syndrome 1 32.5 SMARCB1 BAP1
36 neurofibromatosis, type i 32.5 PTEN NF2 AKT1
37 brain cancer 32.5 TERT SMARCB1 PTEN PIK3CA PDGFB NF2
38 schwannomatosis 1 32.3 SMARCB1 NF2
39 acoustic neuroma 32.1 SMARCB1 NF2 EPB41L3 AKT1
40 neurilemmoma 32.1 SMARCB1 NF2 AKT1
41 glioblastoma 32.0 TERT PTEN PIK3CA PDGFB NOS2 NF2
42 neurofibromatosis, type ii 32.0 TRAF7 SMARCB1 NF2 EPB41L3
43 glioma 32.0 PTEN PIK3CA PDGFB MEG3 H19
44 medulloblastoma 31.9 TERT SUFU SMO SMARCB1 PTEN PIK3CA
45 high grade glioma 31.8 TERT PTEN PIK3CA MEG3 H19 AKT1
46 renal cell carcinoma, nonpapillary 31.7 PTEN PIK3CA MIR200A MEG3 H19 DNMT1
47 chordoma 31.7 TERT SMARCB1 PTEN MN1 AKT1
48 spinal cord disease 31.6 TERT PTEN NF2 MIR200A AKT1
49 hemangioma 31.5 PTEN PGR PDGFB AKT1
50 adenocarcinoma 31.4 PTEN PIK3CA H19 EPB41L3 AKT1

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



Diseases related to Meningioma, Familial
Sources

Symptoms & Phenotypes for Meningioma, Familial

About this section

Human phenotypes related to Meningioma, Familial:

58 30 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chromosomal breakage induced by ionizing radiation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0010997
2 increased sensitivity to ionizing radiation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011133
3 intracranial meningioma 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0100009
4 nausea and vomiting 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002017
5 headache 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002315
6 impotence 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000802
7 focal-onset seizure 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007359
8 decreased serum estradiol 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008214
9 pituitary hypothyroidism 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008245
10 amenorrhea 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000141
11 decreased circulating acth level 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002920
12 secondary growth hormone deficiency 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008240
13 bitemporal hemianopia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0030521
14 increased circulating prolactin concentration 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000870
15 decreased circulating cortisol level 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008163
16 abnormal brain fdg positron emission tomography 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012658
17 focal t2 hypointense thalamic lesion 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012691
18 decreased circulating luteinizing hormone level 58 30 Frequent (33%) Frequent (79-30%)
 HP:0030344
19 hypogonadotropic hypogonadism 30 Frequent (33%) HP:0000044
20 decreased serum testosterone concentration 30 Frequent (33%) HP:0040171
21 decreased circulating follicle stimulating hormone concentration 30 Frequent (33%) HP:0030341
22 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001251
23 facial palsy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0010628
24 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000238
25 increased intracranial pressure 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002516
26 obesity 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001513
27 ophthalmoplegia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000602
28 abnormality of the sense of smell 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004408
29 abnormal cerebellum morphology 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001317
30 difficulty walking 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002355
31 neurofibromas 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001067
32 hemiparesis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001269
33 trigeminal neuralgia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100661
34 oculomotor nerve palsy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012246
35 visual acuity test abnormality 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0030532
36 upper limb muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003484
37 reduced circulating prolactin concentration 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0008202
38 enlarged pituitary gland 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012505
39 papilledema 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001085
40 slow decrease in visual acuity 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007924
41 lower limb muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007340
42 spinal meningioma 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100010
43 weak extraocular muscles 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007715
44 hypothalamic hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0008237
45 neoplasm of the anterior pituitary 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011750
46 abnormal kinetic perimetry test 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0030591
47 abnormal central sensory function 30 Occasional (7.5%) HP:0011730
48 neurological speech impairment 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0002167
49 emotional lability 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000712
50 blindness 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000618

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neoplasia:
meningioma

Clinical features from OMIM®:

607174 (Updated 08-Dec-2022)

UMLS symptoms related to Meningioma, Familial:


headache; seizures

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 HCT116 cells GR00103-A-0 8.32 PIK3CA

MGI Mouse Phenotypes related to Meningioma, Familial:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 10.35 AKT1 BAP1 DNMT1 EPB41L3 MN1 NF2
2 growth/size/body region MP:0005378 10.32 AKT1 BAP1 DNMT1 MEG3 MN1 NF2
3 nervous system MP:0003631 10.3 AKT1 DNMT1 EPB41L3 NF2 NOS2 PDGFB
4 embryo MP:0005380 10.23 AKT1 BAP1 DNMT1 MEG3 NF2 PDGFB
5 muscle MP:0005369 10.21 AKT1 BAP1 MEG3 NOS2 PDGFB PGR
6 cellular MP:0005384 10.18 AKT1 BAP1 DNMT1 EPB41L3 MEG3 NOS2
7 immune system MP:0005387 10.18 AKT1 BAP1 DNMT1 NF2 NOS2 PDGFB
8 digestive/alimentary MP:0005381 10.17 BAP1 DNMT1 MN1 NF2 NOS2 PIK3CA
9 liver/biliary system MP:0005370 10.15 AKT1 MEG3 NF2 NOS2 PDGFB PTEN
10 respiratory system MP:0005388 10.06 AKT1 BAP1 MEG3 MN1 NF2 NOS2
11 reproductive system MP:0005389 10.03 AKT1 BAP1 DNMT1 EPB41L3 NF2 NOS2
12 mortality/aging MP:0010768 9.89 AKT1 BAP1 DNMT1 EPB41L3 MEG3 MN1
13 skeleton MP:0005390 9.85 AKT1 MN1 NF2 NOS2 PGR PIK3CA
14 integument MP:0010771 9.4 AKT1 BAP1 DNMT1 NF2 NOS2 PDGFB
Sources

Drugs & Therapeutics for Meningioma, Familial

About this section

Drugs for Meningioma, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 181)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 4
2
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
3
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 4112 126941
4
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
5
Tranexamic acid Approved Phase 4 1197-18-8 5526
6
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
7
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
8
Prilocaine Approved Phase 4 721-50-6 4906
9
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
10 Immunologic Factors Phase 4
11 Antiviral Agents Phase 4
12 Anti-Infective Agents Phase 4
13 Immunosuppressive Agents Phase 4
14 Antirheumatic Agents Phase 4
15 Dermatologic Agents Phase 4
16 Fibrin Tissue Adhesive Phase 4
17 Antimetabolites Phase 4
18 Folic Acid Antagonists Phase 4
19 Folate Phase 4
20 Vitamin B9 Phase 4
21 Vitamin B Complex Phase 4
22 Antifibrinolytic Agents Phase 4
23 Hemostatics Phase 4
24 Coagulants Phase 4
25 Anesthetics, Local Phase 4
26 Anesthetics Phase 4
27 Vasoconstrictor Agents Phase 4
28 Epinephryl borate Phase 4
29 Bronchodilator Agents Phase 4
30 Neurotransmitter Agents Phase 4
31 Adrenergic beta-Agonists Phase 4
32 Adrenergic alpha-Agonists Phase 4
33 Adrenergic Agonists Phase 4
34 Adrenergic Agents Phase 4
35 Anti-Asthmatic Agents Phase 4
36 Respiratory System Agents Phase 4
37 Mydriatics Phase 4
38 Sympathomimetics Phase 4
39
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
40
Mifepristone Approved, Investigational Phase 3 84371-65-3 55245
41
Cisatracurium Approved, Investigational Phase 3 96946-41-7 62887
42
Magnesium sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9
43
Sevoflurane Approved, Vet_approved Phase 3 28523-86-6 5206
44
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
45
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
46
Aminolevulinic acid Approved Phase 3 106-60-5 137
47 Hormone Antagonists Phase 3
48 glucocorticoids Phase 3
49 Contraceptives, Postcoital Phase 3
50 Contraceptives, Oral Phase 3

Interventional clinical trials:

(show top 50) (show all 172)
# Name Status NCT ID Phase Drugs
1 Neurocognitive Outcome Assessment in Patients With Peri-optic Meningiomas After Excision With Or Without Pealing Of The Outer Layer Of The Cavernous Sinus: A Randomized Controlled Single Blinded Trial. Unknown status NCT03190122 Phase 4
2 Dissection of the Outer Layer of the Lateral Wall of the Cavernous Sinus Decreases Bleeding as Compared to Direct Tumor Attack in Middle Fossa Meningiomas: A Randomized Controlled Trial Unknown status NCT02863484 Phase 4
3 A Prospective, Randomized, Controlled Phase IV Study to Compare Bioseal Versus Standard of Care as an Adjunct to Hemostasis in Elective Brain Tumor Surgery Completed NCT02034799 Phase 4
4 A Randomized Clinical Study to Determine the Patient Benefit and Safety of Depocyt (Cytarabine Liposome Injection) for the Treatment of Neoplastic Meningitis Completed NCT00029523 Phase 4 Intrathecal (injected into the spinal fluid) DepoCyt;Intrathecal methotrexate;Intrathecal cytarabine (also known as ara-C)
5 Effect of Tranexamic Acid Infusion to Reduce Intraoperative Blood Loss in Large Meningioma: A Prospective Randomized Double-blind Control Study Not yet recruiting NCT04386642 Phase 4 Tranexamic acid;Placebo
6 Comparison of Different Approaches for Supraclavicular Block and Their Effects on Diaphragm Muscle Function Evaluated With Diaphragm Thickening Fraction Not yet recruiting NCT04756050 Phase 4 Bupivacaine HCl 0.5% Injectable Solution;Prilocaine HCl % 2 injectable solution;adrenaline amp 0.5mg
7 Efficacy of Stereotactic Conformal Radiotherapy (SCRT) Compared to Conventional Radiotherapy in Minimising Late Sequelae in Children and Young Adults With Brain Tumours: a Randomised Clinical Trial Unknown status NCT00517959 Phase 3
8 PHASE 3 STUDY OF EFFICACY OF TRANEXAMIC ACID IN BRAIN TUMORS RESECTIONS Unknown status NCT01655927 Phase 3 Tranexamic Acid;Placebo: Saline
9 Double Blind Randomized Trial of the Anti-Progestational Agent Mifepristone In The Treatment of Unresectable Meningioma Completed NCT03015701 Phase 3 Mifepristone
10 The Effect of Magnesium Sulphate on Intraoperative Blood Loss in Meningioma Patient Undergoing Craniotomy With Tumor Removal Completed NCT03558516 Phase 3 Magnesium group;Normal saline group
11 Prospective Study Of Patients With Recurrent Or Incomplete Excised Benign Intercranial Meningiomas For The Evaluation Of Treatment Result With Combined Proton And Photon Irradiation To Doses 55.8 Or 63.0 CGE Completed NCT02947984 Phase 3
12 Phase III Trial of Observation Versus Irradiation for a Gross Totally Resected Grade II Meningioma Recruiting NCT03180268 Phase 3
13 A Phase 3 Multicenter Study of Gleolan (Aminolevulinic Acid Hydrochloride) to Enhance Visualization of Tumor in Patients With Newly Diagnosed or Recurrent Meningiomas Recruiting NCT04305470 Phase 3 Gleolan (Aminolevulinic Acid Hydrochloride/ALA/ALA-HCI)
14 A Parallel-group, Two-staged, Phase 2/3, Randomized, Multicenter Study to Evaluate the Efficacy and Safety of REC-2282 in Participants With Progressive NF2 Mutated Meningiomas Recruiting NCT05130866 Phase 2, Phase 3 REC-2282;Placebo
15 Observation Versus Conventional-Fractionated Radiotherapy or Radiosurgery After Non-radical Surgery for Benign Intracranial Meningiomas: A Phase III Study Terminated NCT00104936 Phase 3
16 A Phase II, Open-label, Single Arm Trial of Pembrolizumab for Refractory Atypical and Anaplastic Meningioma Unknown status NCT03016091 Phase 2 Pembrolizumab
17 IMATINIB Plus Hydroxyurea in the Treatment of Recurrent or Progressive Meningiomas: a Randomized Phase II Study Unknown status NCT00904735 Phase 2 hydroxyurea;imatinib mesylate
18 Combination of Everolimus and Octreotide LAR in Aggressive Recurrent Meningiomas. Unknown status NCT02333565 Phase 2 Everolimus;Octreotide
19 A Randomized Phase II Trial of Bevacizumab to Control Brain Radiation Damage Completed NCT00492089 Phase 2 bevacizumab;placebo
20 Phase II Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Completed NCT01125046 Phase 2
21 Phase II Trial of STI571 (NSC 716051) in Patients With Recurrent Meningioma Completed NCT00045734 Phase 2 imatinib mesylate
22 A Phase I/II Trial of OSI-774 in Patients With Recurrent Malignant Gliomas and Malignant Gliomas Post Radiation Therapy Completed NCT00045110 Phase 1, Phase 2 erlotinib hydrochloride
23 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
24 Phase II Study of Monthly SOM230C for Recurrent or Progressive Meningioma Completed NCT00859040 Phase 2 SOM230C
25 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
26 ZD1839 FOR Treatment Of Recurrent Or Progressive Malignant Astrocytoma Or Glioblastoma And Recurrent Or Progressive Meningioma: A Phase II Study With A Phase I Component For Patients Receiving EIAEDs Completed NCT00025675 Phase 2 gefitinib
27 Phase II Study of Hydroxyurea for the Treatment of Recurrent and/or Nonoperable Meningioma Completed NCT00006119 Phase 2 hydroxyurea
28 Phase II Study of Hydroxyurea for Unresectable Meningioma Completed NCT00003590 Phase 2 hydroxyurea
29 A Phase II Study of Imatinib Mesylate Plus Hydroxyurea in the Treatment of Patients With Recurrent/Progressive Meningioma Completed NCT00354913 Phase 2 hydroxyurea;imatinib mesylate
30 Peptide Receptor Radionuclide Therapy Administered to Participants With Meningioma With 67Cu-SARTATEâ„¢: A Single-centre, Open-label, Non- Randomised, Phase I-IIa Theranostic Clinical Trial Completed NCT03936426 Phase 1, Phase 2 Cu-64 SARTATE and Cu-67 SARTATE
31 Trabectedin for Recurrent Grade II or III Meningioma: a Randomized Phase II Study of the EORTC Brain Tumor Group Completed NCT02234050 Phase 2 Trabectedin
32 Combination of Hydroxyurea and Verapamil for Refractory Meningiomas Completed NCT00706810 Phase 2 Hydroxyurea;Verapamil
33 Phase II Study of Metastatic Cancer That Expresses NY-ESO-1 Using Lymphodepleting Conditioning Followed by Infusion of Anti-NY ESO-1 Murine TCR-Gene Engineered Lymphocytes Completed NCT01967823 Phase 2 Cyclophosphamide;Fludarabine;Aldesleukin
34 Proton Radiation for Low Grade Gliomas Completed NCT01024907 Phase 1, Phase 2
35 A Single Arm Phase 2 Study of the Dual mTORC1/mTORC2 Inhibitor AZD2014 Provided on an Intermittent Schedule for Neurofibromatosis 2 Patients With Progressive or Symptomatic Meningiomas Completed NCT02831257 Phase 2 AZD2014
36 Phase II Study to Evaluate the Efficacy of Recombinant Interferon-Alpha in the Treatment of Recurrent Unresectable Meningiomas and Malignant Meningiomas Completed NCT00002965 Phase 2
37 Phase I/II Trial of STI571 (NSC 716051) in Patients With Recurrent Malignant Gliomas Completed NCT00010049 Phase 1, Phase 2 imatinib mesylate
38 A Phase II Trial of PTK-787 in Recurrent or Progressive Meningiomas Completed NCT00348790 Phase 2 vatalanib
39 A Phase 2, Single Arm, Multi-center, Open Label Trial Combining Optune With Concurrent Bevacizumab in the Setting of Recurrent or Progressive Meningioma Recruiting NCT02847559 Phase 2
40 A Prospective, Phase II Study of Lutetium Lu 177 Dotatate (LUTATHERA®) in Patients With Inoperable, Progressive Meningioma After External Beam Radiation Therapy Recruiting NCT04082520 Phase 2 Lutetium Lu 177 Dotatate
41 A Phase II Study of Stereotactic Radiosurgery in Conjunction With the PD-1 Inhibitor, Pembrolizumab for the Treatment of Recurrent Meningioma Recruiting NCT04659811 Phase 2 Pembrolizumab
42 A Phase I/II Study of Nivolumab Plus or Minus Ipilimumab in Combination With Multi-Fraction Stereotactic Radiosurgery for Recurrent High-Grade Radiation-Relapsed Meningioma Recruiting NCT03604978 Phase 1, Phase 2
43 Phase II Trial of SMO/ AKT/ NF2/CDK Inhibitors in Progressive Meningiomas With SMO/ AKT/ NF2/CDK Pathway Mutations Recruiting NCT02523014 Phase 2 Vismodegib;FAK Inhibitor GSK2256098;Capivasertib;Abemaciclib
44 SSTR2-Targeted PET Imaging of Meningioma: Direct Comparison of Ga-68-DOTATATE and Ga-68-DOTATOC Recruiting NCT04298541 Phase 2 Ga-68- DOTATATE;Ga-68-DOTATOC
45 An Open-Label Phase II Study of Nivolumab in Adult Participants With Recurrent High-Grade Meningioma Recruiting NCT02648997 Phase 2 Nivolumab - 240 mg;Ipilimumab - 1 mg/kg;Nivolumab - 480 mg;Nivolumab - 3 mg/kg
46 A Single Arm, Open-label, Multicenter Phase II Study of 177Lu-DOTATATE Radionuclide in Adults With Progressive or High-risk Meningioma Recruiting NCT03971461 Phase 2 Lutathera
47 An Open-Label, Phase 2 Study of NEO100 in Participants With Residual, Progressive or Recurrent High-Grade Meningioma Recruiting NCT05023018 Phase 2 NEO100
48 A Phase II Study of Cabozantinib for Patients With Recurrent or Progressive Meningioma Recruiting NCT05425004 Phase 2 Cabozantinib
49 Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2) Recruiting NCT04374305 Phase 2 Brigatinib;Neratinib
50 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib

Search NIH Clinical Center for Meningioma, Familial

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Cytarabine
Cytarabine liposome
Mifepristone

Cochrane evidence based reviews: meningioma, familial

Sources

Genetic Tests for Meningioma, Familial

About this section

Genetic tests related to Meningioma, Familial:

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

Anatomical Context for Meningioma, Familial

About this section

Organs/tissues related to Meningioma, Familial:

MalaCards : Brain, Spinal Cord, Pituitary, Lung, Cerebellum, Breast, Pineal
Sources

Publications for Meningioma, Familial

About this section

Articles related to Meningioma, Familial:

(show top 50) (show all 23211)
# Title Authors PMID Year
1
Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas. 53 62 57 5
8162072 1994
2
Deletion of Alu sequences in the fifth c-sis intron in individuals with meningiomas. 53 62 57 5
2212004 1990
3
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. 62 57 5
23377182 2013
4
Loss of SUFU function in familial multiple meningioma. 62 57 5
22958902 2012
5
A novel germline mutation of PTEN associated with brain tumours of multiple lineages. 62 57 5
12085208 2002
6
Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma. 62 57 5
3969118 1985
7
Meningioma: a cytogenetic model of a complex benign human tumor, including data on 394 karyotyped cases. 53 62 57
11528114 2001
8
INI1 mutations in meningiomas at a potential hotspot in exon 9. 53 62 57
11161377 2001
9
Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. 53 62 57
7717450 1995
10
Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma. 53 62 57
7731706 1995
11
Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene. 53 62 57
7987321 1994
12
A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening. 62 5
26803492 2016
13
Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. 62 57
23334667 2013
14
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. 62 5
23348505 2013
15
Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. 62 57
22038540 2012
16
Common variation at 10p12.31 near MLLT10 influences meningioma risk. 62 57
21804547 2011
17
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. 62 57
20930055 2011
18
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. 62 57
19582488 2010
19
Multiple meningiomas in brain and lung due to acquired mutation of the NF2 gene. 62 57
15159511 2004
20
Familial meningioma: analysis of expression of neurofibromatosis 2 protein Merlin. Report of two cases. 62 57
9488313 1998
21
Cytogenetic, molecular genetic and pathological analyses in 126 meningiomas. 62 57
7876890 1995
22
Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas. 62 5
7868131 1995
23
Familial meningioma is not allelic to neurofibromatosis 2. 62 57
8413972 1993
24
Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus. 62 57
8401504 1993
25
Multiple meningiomas in a patient with constitutional ring chromosome 22. 62 57
8213904 1993
26
Familial CNS tumors. 62 57
1512611 1992
27
Loss of heterozygosity for chromosome 22 DNA sequences in human meningioma. 62 57
1676608 1991
28
A t(4;22) in a meningioma points to the localization of a putative tumor-suppressor gene. 62 57
2014801 1991
29
Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting. 62 57
2220822 1990
30
Parental origin of chromosome 22 alleles lost in meningioma. 62 57
1977313 1990
31
Molecular genetic analysis of chromosome 22 in 81 cases of meningioma. 62 57
2393856 1990
32
Familial meningioma. 62 57
2300254 1990
33
Cytogenetic studies in 50 meningiomas. 62 57
3162394 1988
34
Loss of genes on the long arm of chromosome 22 in human meningiomas. 62 57
2897611 1988
35
Loss of heterozygosity and the origin of meningioma. 62 57
2891603 1987
36
Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma. 62 57
2892198 1987
37
Molecular genetic approach to human meningioma: loss of genes on chromosome 22. 62 57
3037550 1987
38
Familial meningiomas. Report of two cases. 62 57
3329680 1987
39
Recessive cancer genes in meningiomas? An analysis of 31 cases. 62 57
3472644 1987
40
Multifocal meningiomas in a patient with a constitutional ring chromosome 22. 62 57
3712397 1986
41
[Meningioma and acoustic neurinoma occurring in two siblings of two different families]. 62 57
6518127 1984
42
Cytological and cytogenetical studies on human meningioma. 62 57
6288229 1982
43
Familial occurrence of meningioma: a case report. 62 57
6926386 1981
44
Multiple and familial meningiomas without evidence of neurofibromatosis. 62 57
6782502 1980
45
Meningiomas in five members of a family over two generations, in one member simultaneously with acoustic neurinomas. 62 57
418361 1978
46
Cranial and spinal meningiomas in a pair of identical twin boys. 62 57
4714099 1973
47
Chromosomal consitution of meningiomas. 62 57
6050684 1967
48
Familial occurrence of meningiomas. Case report. 62 57
5852402 1965
49
FAMILIAL MENINGIOMAS. 62 57
14285655 1965
50
Meningiomas in a mother and daughter. Cases without evidence of neurofibromatosis. 62 57
13790892 1961
Sources

Variations for Meningioma, Familial

About this section

ClinVar genetic disease variations for Meningioma, Familial:

5 (show top 50) (show all 538)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCE1 NM_003079.5(SMARCE1):c.454_455delinsT (p.Ala152fs) INDEL Pathogenic
 532251 rs1555605750 GRCh37: 17:38792269-38792270
GRCh38: 17:40636017-40636018
2 SMARCE1 NC_000017.10:g.(?_38785037)_(38804103_?)del DEL Pathogenic
 1076751 GRCh37: 17:38785037-38804103
GRCh38:
3 SMARCE1 NM_003079.5(SMARCE1):c.808del (p.Arg272fs) DEL Pathogenic
 1428058 GRCh37: 17:38787852-38787852
GRCh38: 17:40631600-40631600
4 SMARCE1 NM_003079.5(SMARCE1):c.688C>T (p.Gln230Ter) SNV Pathogenic
 1435484 GRCh37: 17:38788473-38788473
GRCh38: 17:40632221-40632221
5 SMARCE1 NM_003079.5(SMARCE1):c.493G>T (p.Glu165Ter) SNV Pathogenic
 1425601 GRCh37: 17:38792231-38792231
GRCh38: 17:40635979-40635979
6 SMARCE1 NM_003079.5(SMARCE1):c.815_816insT (p.Arg272fs) INSERT Pathogenic
 1454669 GRCh37: 17:38787844-38787845
GRCh38: 17:40631592-40631593
7 SMARCE1 NM_003079.5(SMARCE1):c.92del (p.Tyr31fs) DEL Pathogenic
 1459773 GRCh37: 17:38798771-38798771
GRCh38: 17:40642519-40642519
8 SMARCE1 NM_003079.5(SMARCE1):c.340G>T (p.Glu114Ter) SNV Pathogenic
 953673 rs2037146773 GRCh37: 17:38792676-38792676
GRCh38: 17:40636424-40636424
9 SMARCE1 NM_003079.5(SMARCE1):c.525del (p.Ala176fs) DEL Pathogenic
 239495 rs878854603 GRCh37: 17:38792199-38792199
GRCh38: 17:40635947-40635947
10 SMARCE1 NM_003079.5(SMARCE1):c.313C>T (p.Arg105Ter) SNV Pathogenic
 407072 rs1060501395 GRCh37: 17:38792703-38792703
GRCh38: 17:40636451-40636451
11 SMARCE1 NM_003079.5(SMARCE1):c.871C>T (p.Gln291Ter) SNV Pathogenic
 957528 rs2037087179 GRCh37: 17:38787122-38787122
GRCh38: 17:40630870-40630870
12 SMARCE1 NM_003079.5(SMARCE1):c.472C>T (p.Arg158Ter) SNV Pathogenic
 1069790 GRCh37: 17:38792252-38792252
GRCh38: 17:40636000-40636000
13 SMARCE1 NM_003079.5(SMARCE1):c.751C>T (p.Arg251Ter) SNV Pathogenic
 373044 rs1057518166 GRCh37: 17:38787909-38787909
GRCh38: 17:40631657-40631657
14 SMARCE1 NM_003079.5(SMARCE1):c.757C>T (p.Gln253Ter) SNV Pathogenic
 463432 rs1555605347 GRCh37: 17:38787903-38787903
GRCh38: 17:40631651-40631651
15 SMARCE1 NM_003079.5(SMARCE1):c.624_627del (p.Ser208fs) DEL Pathogenic
 212264 rs797045990 GRCh37: 17:38788534-38788537
GRCh38: 17:40632282-40632285
16 SMARCE1 NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter) SNV Pathogenic
 55832 rs397509405 GRCh37: 17:38787945-38787945
GRCh38: 17:40631693-40631693
17 PDGFB NM_002608.4(PDGFB):c.602-1396_602-1262del DEL Pathogenic
 12598 GRCh37: 22:39623114-39623248
GRCh38: 22:39227109-39227243
18 NF2 NM_000268.4(NF2):c.995del (p.Lys332fs) DEL Pathogenic
 3284 rs587776563 GRCh37: 22:30064429-30064429
GRCh38: 22:29668440-29668440
19 PTEN NM_000314.8(PTEN):c.253+2T>A SNV Pathogenic
 468676 rs1224040268 GRCh37: 10:89690848-89690848
GRCh38: 10:87931091-87931091
20 PTEN NM_000314.8(PTEN):c.209+2T>C SNV Pathogenic
 584751 rs878853937 GRCh37: 10:89685316-89685316
GRCh38: 10:87925559-87925559
21 NF2 NM_000268.4(NF2):c.885+1G>A SNV Pathogenic
 930282 rs2066581489 GRCh37: 22:30061054-30061054
GRCh38: 22:29665065-29665065
22 PTEN NM_000314.8(PTEN):c.860C>G (p.Ser287Ter) SNV Pathogenic
 216987 rs863224909 GRCh37: 10:89720709-89720709
GRCh38: 10:87960952-87960952
23 NF2 NM_000268.4(NF2):c.169C>T (p.Arg57Ter) SNV Pathogenic
 3285 rs121434259 GRCh37: 22:30032794-30032794
GRCh38: 22:29636805-29636805
24 PTEN NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) SNV Pathogenic
 7840 rs121909235 GRCh37: 10:89717676-89717676
GRCh38: 10:87957919-87957919
25 PTEN NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) SNV Pathogenic
 189500 rs121913293 GRCh37: 10:89711899-89711899
GRCh38: 10:87952142-87952142
26 PTEN NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) SNV Pathogenic
 7833 rs121909231 GRCh37: 10:89720852-89720852
GRCh38: 10:87961095-87961095
27 PTEN NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) SNV Pathogenic
 536556 rs587782187 GRCh37: 10:89624274-89624274
GRCh38: 10:87864517-87864517
28 PTEN NM_000314.8(PTEN):c.492+1G>T SNV Pathogenic
 427619 rs1554898242 GRCh37: 10:89693009-89693009
GRCh38: 10:87933252-87933252
29 PTEN NM_000314.8(PTEN):c.209+1G>A SNV Pathogenic
 418434 rs1554897280 GRCh37: 10:89685315-89685315
GRCh38: 10:87925558-87925558
30 SMARCE1 NM_003079.5(SMARCE1):c.328G>T (p.Glu110Ter) SNV Pathogenic
 1460319 GRCh37: 17:38792688-38792688
GRCh38: 17:40636436-40636436
31 PTEN NM_000314.8(PTEN):c.16A>G (p.Lys6Glu) SNV Likely Pathogenic
 644390 rs1589596143 GRCh37: 10:89624242-89624242
GRCh38: 10:87864485-87864485
32 PTEN NM_000314.8(PTEN):c.103A>G (p.Met35Val) SNV Likely Pathogenic
 231916 rs876659443 GRCh37: 10:89653805-89653805
GRCh38: 10:87894048-87894048
33 SMARCE1 NM_003079.5(SMARCE1):c.541+1G>A SNV Likely Pathogenic
 641297 rs1597746020 GRCh37: 17:38792182-38792182
GRCh38: 17:40635930-40635930
34 SUFU NM_016169.4(SUFU):c.367C>T (p.Arg123Cys) SNV Risk Factor
 37215 rs202247756 GRCh37: 10:104309776-104309776
GRCh38: 10:102550019-102550019
35 PTEN NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) SNV Likely Pathogenic
 428235 rs370795352 GRCh37: 10:89692920-89692920
GRCh38: 10:87933163-87933163
36 SMARCE1 NM_003079.5(SMARCE1):c.817-2A>G SNV Likely Pathogenic
 1499791 GRCh37: 17:38787178-38787178
GRCh38: 17:40630926-40630926
37 AKT1 NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) SNV Likely Pathogenic
 13983 rs121434592 GRCh37: 14:105246551-105246551
GRCh38: 14:104780214-104780214
38 SUFU NM_016169.4(SUFU):c.1391G>A (p.Trp464Ter) SNV Likely Pathogenic
 1184595 GRCh37: 10:104389848-104389848
GRCh38: 10:102630091-102630091
39 SMARCE1 NM_003079.5(SMARCE1):c.369+1G>A SNV Likely Pathogenic
 1521437 GRCh37: 17:38792646-38792646
GRCh38: 17:40636394-40636394
40 SMARCE1 NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys) SNV Likely Pathogenic
 30316 rs387906857 GRCh37: 17:38793763-38793763
GRCh38: 17:40637511-40637511
41 SMARCE1 NM_003079.5(SMARCE1):c.369+1G>T SNV Likely Pathogenic
 861686 rs2037146593 GRCh37: 17:38792646-38792646
GRCh38: 17:40636394-40636394
42 SMARCE1 NM_003079.5(SMARCE1):c.369+2_369+5del DEL Likely Pathogenic
 1067542 GRCh37: 17:38792642-38792645
GRCh38: 17:40636390-40636393
43 SMARCE1 NM_003079.5(SMARCE1):c.714+1G>A SNV Likely Pathogenic
 1067361 GRCh37: 17:38788446-38788446
GRCh38: 17:40632194-40632194
44 SMARCE1 NM_003079.5(SMARCE1):c.542-2A>G SNV Likely Pathogenic
 1067628 GRCh37: 17:38788621-38788621
GRCh38: 17:40632369-40632369
45 SMARCE1 NM_003079.5(SMARCE1):c.237+2T>C SNV Risk Factor
 55833 rs397509406 GRCh37: 17:38793742-38793742
GRCh38: 17:40637490-40637490
46 SMARCE1 NM_003079.5(SMARCE1):c.311G>A (p.Trp104Ter) SNV Risk Factor
 55834 rs397509407 GRCh37: 17:38792705-38792705
GRCh38: 17:40636453-40636453
47 SMARCE1 NM_003079.5(SMARCE1):c.572dup (p.Ala192fs) DUP Risk Factor
 55835 rs397509408 GRCh37: 17:38788588-38788589
GRCh38: 17:40632336-40632337
48 DNMT1 NM_001130823.3(DNMT1):c.1645-1G>T SNV Likely Pathogenic
 635178 rs1568234664 GRCh37: 19:10265450-10265450
GRCh38: 19:10154774-10154774
49 SMARCE1 NC_000017.10:g.(?_38785027)_(38804103_?)dup DUP Uncertain Significance
 663421 GRCh37: 17:38785027-38804103
GRCh38: 17:40628775-40647851
50 SMARCE1 NC_000017.11:g.(?_40628785)_(40647851_?)dup DUP Uncertain Significance
 830909 GRCh37: 17:38785037-38804103
GRCh38:

Cosmic variations for Meningioma, Familial:

8 (show top 50) (show all 20189)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM84674216 SMO meninges,NS,meningioma,meningothelial c.1234C>T p.L412F 7:129206557-129206557 26
2 COSM84674285 SMO meninges,NS,meningioma,meningothelial c.1604G>T p.W535L 7:129210500-129210500 26
3 COSM94457312 NF2 meninges,NS,meningioma,meningothelial c.240+2212A>C p.? 22:29639088-29639088 26
4 COSM94454256 NF2 meninges,NS,meningioma,meningothelial c.1141G>T p.E381* 22:29673410-29673410 26
5 COSM94455522 NF2 meninges,NS,meningioma,meningothelial c.511C>T p.Q171* 22:29658223-29658223 26
6 COSM102838922 NF2 meninges,NS,meningioma,meningothelial c.364-1G>C p.? 22:29642201-29642201 26
7 COSM89039211 NF2 meninges,NS,meningioma,meningothelial c.517-1G>A p.? 22:29655593-29655593 26
8 COSM105506877 NF2 meninges,NS,meningioma,meningothelial c.552G>A p.W184* 22:29655629-29655629 26
9 COSM94452723 NF2 meninges,NS,meningioma,meningothelial c.832C>T p.Q278* 22:29668402-29668402 26
10 COSM89035345 NF2 meninges,NS,meningioma,meningothelial c.1264G>T p.E422* 22:29673410-29673410 26
11 COSM105109256 NF2 meninges,NS,meningioma,meningothelial c.448-19918A>G p.? 22:29674834-29674834 26
12 COSM102846282 NF2 meninges,NS,meningioma,meningothelial c.1341-2A>G p.? 22:29674834-29674834 26
13 COSM95496378 NF2 meninges,NS,meningioma,meningothelial c.115-2A>C p.? 22:29639088-29639088 26
14 COSM102648110 NF2 meninges,NS,meningioma,meningothelial c.1264G>T p.E422* 22:29673410-29673410 26
15 COSM105101709 NF2 meninges,NS,meningioma,meningothelial c.448-21342G>T p.? 22:29673410-29673410 26
16 COSM89035309 NF2 meninges,NS,meningioma,meningothelial c.1198C>T p.Q400* 22:29673344-29673344 26
17 COSM93466045 NF2 meninges,NS,meningioma,meningothelial c.784C>T p.R262* 22:29661313-29661313 26
18 COSM95491285 NF2 meninges,NS,meningioma,meningothelial c.658C>T p.R220* 22:29661313-29661313 26
19 COSM105104640 NF2 meninges,NS,meningioma,meningothelial c.241-2A>C p.? 22:29639088-29639088 26
20 COSM105505219 NF2 meninges,NS,meningioma,meningothelial c.1254-1G>A p.? 22:29674835-29674835 26
21 COSM95501313 NF2 meninges,NS,meningioma,meningothelial c.425G>A p.W142* 22:29655628-29655628 26
22 COSM92437634 NF2 meninges,NS,meningioma,meningothelial c.115-1G>C p.? 22:29642201-29642201 26
23 COSM89035164 NF2 meninges,NS,meningioma,meningothelial c.1341-1G>A p.? 22:29674835-29674835 26
24 COSM105503556 NF2 meninges,NS,meningioma,meningothelial c.784C>T p.R262* 22:29661313-29661313 26
25 COSM105101234 NF2 meninges,NS,meningioma,meningothelial c.448-21265G>A p.? 22:29673487-29673487 26
26 COSM89062499 NF2 meninges,NS,meningioma,meningothelial c.268-1G>A p.? 22:29655593-29655593 26
27 COSM89033278 NF2 meninges,NS,meningioma,meningothelial c.784C>T p.R262* 22:29661313-29661313 26
28 COSM102648416 NF2 meninges,NS,meningioma,meningothelial c.364-1G>C p.? 22:29642201-29642201 26
29 COSM102649643 NF2 meninges,NS,meningioma,meningothelial c.552G>A p.W184* 22:29655629-29655629 26
30 COSM105103262 NF2 meninges,NS,meningioma,meningothelial c.447+13344G>A p.? 22:29655629-29655629 26
31 COSM102838614 NF2 meninges,NS,meningioma,meningothelial c.1264G>T p.E422* 22:29673410-29673410 26
32 COSM102841999 NF2 meninges,NS,meningioma,meningothelial c.517-1G>A p.? 22:29655593-29655593 26
33 COSM94463878 NF2 meninges,NS,meningioma,meningothelial c.477-3C>G p.? 22:29658186-29658186 26
34 COSM95500693 NF2 meninges,NS,meningioma,meningothelial c.1215-2A>G p.? 22:29674834-29674834 26
35 COSM102847267 NF2 meninges,NS,meningioma,meningothelial c.551G>A p.W184* 22:29655628-29655628 26
36 COSM89039219 NF2 meninges,NS,meningioma,meningothelial c.241-2A>C p.? 22:29639088-29639088 26
37 COSM105099847 NF2 meninges,NS,meningioma,meningothelial c.447+19028C>T p.? 22:29661313-29661313 26
38 COSM102840402 NF2 meninges,NS,meningioma,meningothelial c.552G>A p.W184* 22:29655629-29655629 26
39 COSM94455946 NF2 meninges,NS,meningioma,meningothelial c.429G>A p.W143* 22:29655629-29655629 26
40 COSM95493402 NF2 meninges,NS,meningioma,meningothelial c.238-1G>C p.? 22:29642201-29642201 26
41 COSM95494519 NF2 meninges,NS,meningioma,meningothelial c.508C>T p.Q170* 22:29658223-29658223 26
42 COSM89037190 NF2 meninges,NS,meningioma,meningothelial c.552G>A p.W184* 22:29655629-29655629 26
43 COSM89060483 NF2 meninges,NS,meningioma,meningothelial c.385C>T p.Q129* 22:29658223-29658223 26
44 COSM93473571 NF2 meninges,NS,meningioma,meningothelial c.1341-2A>G p.? 22:29674834-29674834 26
45 COSM94462480 NF2 meninges,NS,meningioma,meningothelial c.428G>A p.W143* 22:29655628-29655628 26
46 COSM89059269 NF2 meninges,NS,meningioma,meningothelial c.1015G>T p.E339* 22:29673410-29673410 26
47 COSM105508272 NF2 meninges,NS,meningioma,meningothelial c.517-1G>A p.? 22:29655593-29655593 26
48 COSM102647609 NF2 meninges,NS,meningioma,meningothelial c.1340+1G>A p.? 22:29673487-29673487 26
49 COSM92435120 NF2 meninges,NS,meningioma,meningothelial c.535C>T p.R179* 22:29661313-29661313 26
50 COSM105100204 NF2 meninges,NS,meningioma,meningothelial c.447+26117C>T p.? 22:29668402-29668402 26

Copy number variations for Meningioma, Familial from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 81307 14 101400000 103200000 Loss Meningioma
2 109410 17 25800000 38100000 Copy number ERBB2 Meningioma
3 116388 17 6500000 10700000 Copy number TP53 Meningioma
Sources

Expression for Meningioma, Familial

About this section
Search GEO for disease gene expression data for Meningioma, Familial.
Sources

Pathways for Meningioma, Familial

About this section

Pathways related to Meningioma, Familial according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Signal Transduction 66
13.69 TERT SUFU SMO PTEN PIK3CA PGR
2
Breast cancer pathway 74
Show member pathways
 12.26 PTEN PIK3CA PGR PDGFB AKT1
3
Focal adhesion 74
12.2 PTEN PIK3CA PDGFB AKT1
4
PDGFR-beta signaling pathway 61
Show member pathways
 12.17 PTEN PIK3CA PDGFB AKT1
5
AMPK Enzyme Complex Pathway 64
Show member pathways
 12.11 SMARCE1 SMARCB1 NOS2 AKT1
6
Development EGFR signaling via small GTPases 22
Show member pathways
 11.81 PTEN PIK3CA PDGFB AKT1
7
PI3K / Akt Signaling 3
11.78 PTEN PIK3CA AKT1
8
Malignant pleural mesothelioma 74
11.78 TERT PTEN PIK3CA PDGFB NF2 BAP1
9
Small cell lung cancer 74
11.69 AKT1 NOS2 PIK3CA PTEN
10
BCR signaling pathway 61
11.61 AKT1 PIK3CA PTEN
11
HIF-1-alpha transcription factor network 61
11.6 AKT1 NOS2 TERT
12
Clear cell renal cell carcinoma pathways 74
11.6 PTEN PDGFB BAP1 AKT1
13
Copper homeostasis 74
Show member pathways
 11.54 PTEN PIK3CA AKT1
14
Signaling events mediated by PTP1B 61
11.41 PIK3CA PDGFB AKT1
15
Microtubule cytoskeleton regulation 74
11.41 PTEN PIK3CA AKT1
16
Fibrin complement receptor 3 signaling pathway 74
11.37 PIK3CA NOS2 AKT1
17
Head and neck squamous cell carcinoma 74
11.32 TERT PTEN PIK3CA AKT1
18
Hedgehog signaling events mediated by Gli proteins 61
11.3 AKT1 SMO SUFU
19
Signaling events mediated by the Hedgehog family 61
Show member pathways
 11.27 SMO PIK3CA AKT1
20
Tumor suppressor activity of SMARCB1 74
Show member pathways
 11.23 SMO SMARCE1 SMARCB1
21
ErbB2/ErbB3 signaling events 61
11.19 PIK3CA NF2 AKT1
22
PI3K-AKT-mTOR signaling pathway and therapeutic opportunities 74
11.15 PTEN PIK3CA AKT1
23
Telomere Extension by Telomerase 64
Show member pathways
 11.13 TERT PIK3CA AKT1
24
Class I PI3K signaling events 61
11.12 PTEN PIK3CA AKT1
25
Pathways affected in adenoid cystic carcinoma 74
11.05 SMARCE1 PTEN PIK3CA AKT1
26
Validated nuclear estrogen receptor beta network 61
10.82 SMARCE1 SMARCB1
27
S1P3 pathway 61
10.82 PDGFB AKT1
28
Angiogenesis (WikiPathways) 74
10.78 PIK3CA PDGFB AKT1
29
Resolvin E1 and resolvin D1 signaling pathways promoting inflammation resolution 74
10.71 PIK3CA AKT1
30
Mammary gland development pathway - Embryonic development (Stage 1 of 4) 74
10.69 TERT MIR200A AKT1
Sources

GO Terms for Meningioma, Familial

About this section

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

# Name GO ID Score Top Affiliating Genes
1 germ cell nucleus GO:0043073 8.8 SMARCB1 DNMT1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of smooth muscle cell proliferation GO:0048661 9.95 PIK3CA PDGFB AKT1
2 protein kinase B signaling GO:0043491 9.91 PTEN PIK3CA AKT1
3 phosphatidylinositol 3-kinase signaling GO:0014065 9.85 PTEN PIK3CA AKT1
4 positive regulation of vascular associated smooth muscle cell proliferation GO:1904707 9.8 DNMT1 PDGFB TERT
5 regulation of cellular respiration GO:0043457 9.76 PIK3CA NOS2
6 paracrine signaling GO:0038001 9.71 PGR PDGFB
7 positive regulation of blood vessel endothelial cell migration GO:0043536 9.65 PDGFB MIR200A AKT1
8 negative regulation of gene expression GO:0010629 9.53 TERT SMO PIK3CA PGR PDGFB NOS2
9 interleukin-18-mediated signaling pathway GO:0035655 9.46 PDGFB AKT1
10 cellular response to decreased oxygen levels GO:0036294 9.13 PTEN AKT1
Sources

Sources for Meningioma, Familial

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....