MNGMA
MCID: MNN043
MIFTS: 79

Meningioma, Familial (MNGMA)

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

Aliases & Classifications for Meningioma, Familial

MalaCards integrated aliases for Meningioma, Familial:

Name: Meningioma, Familial 57 29 6 44
Meningioma 57 12 73 20 72 36 29 13 54 6 15 70
Familial Meningioma 12 72 15 70
Meningioma, Familial, Susceptibility to 57 39
Supratentorial Meningioma 12 70
Meningeal Neoplasms 6 70
Meningeal Neoplasm 12 17
Meningioma, Benign, No Icd-O Subtype 70
Meningioma, Nf2-Related, Somatic 57
Familial Multiple Meningioma 58
Meningothelial Cell Neoplasm 70
Meningothelial Cell Tumor 12
Neoplasm of the Meninges 12
Meningioma, Sis-Related 57
Intracranial Meningioma 70
Primary Meningeal Tumor 12
Meningiomas 15
Mngma 72

Characteristics:

Orphanet epidemiological data:

58
familial multiple meningioma
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
adult onset
incomplete penetrance
more common in women
frequency increases with advancing age
high recurrence rate

Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Meningioma, Familial

KEGG : 36 Meningiomas are the second-most common central nervous system tumor in adults. These tumors arise from arachnoid cells of the meninges, the covering layer of the brain. The majority of meningiomas tend to be benign, localized, and non-invasive. However, some meningiomas tend to be more aggressive with tendencies toward invasion of the surrounding brain, high propensity for recurrence, and in rare cases extracranial metastasis. Hereditary factors and ionizing radiation play an important role in the initiation of at least some meningiomas. Inactivation of the NF2 tumor suppressor gene is likely responsible for the initiation of more than half of all meningiomas and may cause a mesenchymal-like cytomorphology. Recently, novel mutations have been discovered in non-NF2 meningiomas. The somatic mutations in components of the SHH-GLI1 and AKT1-MTOR signaling pathways indicates the potential for cross talk of these pathways in the development of meningiomas.

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

Disease Ontology : 12 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.

GARD : 20 Meningioma s 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. Management depends on the location of the meningioma and symptoms present and may include observation, surgery, and/or radiation therapy.

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 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 1132)
# Related Disease Score Top Affiliating Genes
1 secretory meningioma 33.5 SMARCE1 SMARCB1 NF2
2 spinal meningioma 33.4 SMARCE1 SMARCB1 PGR NF2
3 meningioma, radiation-induced 33.0 SUFU SMARCE1 SMARCB1 PDGFB NF2 AKT1
4 meningothelial meningioma 32.9 SMARCE1 PGR NF2
5 transitional meningioma 32.9 SMARCE1 PGR NF2
6 benign meningioma 32.9 SMARCE1 PGR NF2 EPB41L3
7 lung meningioma 32.9 PGR NF2
8 clear cell meningioma 32.8 SMARCE1 SMARCB1 PGR NF2
9 brain meningioma 32.8 PGR NF2
10 optic nerve sheath meningioma 32.7 SMARCB1 NF2
11 olfactory groove meningioma 32.7 PGR NF2
12 rhabdoid meningioma 32.7 SMARCB1 NF2
13 angiomatous meningioma 32.6 SMARCE1 NF2
14 skull base meningioma 32.6 SMARCE1 NF2
15 anterior cranial fossa meningioma 32.6 PGR NF2
16 spinal canal and spinal cord meningioma 32.4 SMARCE1 SMARCB1 PGR NF2
17 schwannomatosis 1 32.0 SMARCB1 NF2
18 neurilemmoma 32.0 SMARCB1 RDX NF2 EZR AKT1
19 glioblastoma 31.8 PTEN PDGFB NOS2 MEG3 H19 AKT1
20 neurofibromatosis, type ii 31.7 RDX NF2 EZR EPB41L3 AKT1
21 glioma 31.6 PTEN PDGFB MEG3 H19
22 acoustic neuroma 31.6 RDX NF2 EZR
23 medulloblastoma 31.6 SUFU SMARCB1 PTEN PTCH1 PDGFB H19
24 chordoma 31.5 SMARCB1 PTEN MN1 AKT1
25 benign ependymoma 31.5 PTEN NF2 AKT1
26 hemangioma 31.5 PTEN PGR PDGFB AKT1
27 monosomy 22 31.3 SMARCB1 NF2
28 brain cancer 31.1 SMARCB1 PTEN PTCH1 NF2 AKT1
29 osteogenic sarcoma 31.0 MEG3 H19 EZR AKT1
30 tinea capitis 31.0 PTCH1 NF2
31 kidney cancer 30.9 PTEN MEG3 H19 AKT1
32 basal cell nevus syndrome 30.8 SUFU SMARCB1 PTEN PTCH1 NF2 AKT1
33 rhabdoid cancer 30.7 SMARCE1 SMARCB1 NF2
34 neurilemmomatosis 30.7 SUFU SMARCE1 SMARCB1 NF2
35 nasopharyngeal carcinoma 30.7 PTEN MEG3 H19 EZR DNMT1 AKT1
36 atypical teratoid rhabdoid tumor 30.7 SMARCE1 SMARCB1 NF2
37 rhabdomyosarcoma 30.6 SUFU SMARCB1 PTEN PTCH1 PDGFB H19
38 endometrial cancer 30.6 PTEN PGR MIR200A MEG3 H19 EZR
39 esophageal cancer 30.6 PTEN PDGFB MIR200A MEG3 H19 DNMT1
40 li-fraumeni syndrome 30.6 SUFU SMARCB1 PTEN PTCH1
41 wilms tumor 1 30.5 SMARCB1 PGR MEG3 H19 EZR
42 melanoma, uveal 30.5 PTEN NF2 EZR AKT1
43 endometriosis 30.5 PTEN PGR MIR200A H19
44 central nervous system cancer 30.5 SMARCB1 PTEN PTCH1 NF2 AKT1
45 hepatocellular carcinoma 30.4 SMARCE1 SMARCB1 PTEN PTCH1 NOS2 MIR200A
46 anaplastic ependymoma 30.4 PTEN NF2
47 skull base cancer 30.3 SMARCE1 PGR NF2
48 in situ carcinoma 30.3 PTEN PGR AKT1
49 cervix carcinoma 30.2 PGR MIR200A AKT1
50 corpus callosum lipoma 30.1 SMARCB1 NF2

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



Diseases related to Meningioma, Familial

Symptoms & Phenotypes for Meningioma, Familial

Human phenotypes related to Meningioma, Familial:

31 (show top 50) (show all 67)
# Description HPO Frequency HPO Source Accession
1 chromosomal breakage induced by ionizing radiation 31 hallmark (90%) HP:0010997
2 increased sensitivity to ionizing radiation 31 hallmark (90%) HP:0011133
3 intracranial meningioma 31 hallmark (90%) HP:0100009
4 nausea and vomiting 31 frequent (33%) HP:0002017
5 headache 31 frequent (33%) HP:0002315
6 impotence 31 frequent (33%) HP:0000802
7 focal-onset seizure 31 frequent (33%) HP:0007359
8 decreased serum estradiol 31 frequent (33%) HP:0008214
9 pituitary hypothyroidism 31 frequent (33%) HP:0008245
10 amenorrhea 31 frequent (33%) HP:0000141
11 decreased serum testosterone level 31 frequent (33%) HP:0040171
12 decreased circulating acth level 31 frequent (33%) HP:0002920
13 secondary growth hormone deficiency 31 frequent (33%) HP:0008240
14 bitemporal hemianopia 31 frequent (33%) HP:0030521
15 decreased circulating cortisol level 31 frequent (33%) HP:0008163
16 increased circulating prolactin concentration 31 frequent (33%) HP:0000870
17 abnormal brain fdg positron emission tomography 31 frequent (33%) HP:0012658
18 focal t2 hypointense thalamic lesion 31 frequent (33%) HP:0012691
19 decreased circulating follicle stimulating hormone level 31 frequent (33%) HP:0030341
20 decreased circulating luteinizing hormone level 31 frequent (33%) HP:0030344
21 hypogonadotropic hypogonadism 31 frequent (33%) HP:0000044
22 ataxia 31 occasional (7.5%) HP:0001251
23 facial palsy 31 occasional (7.5%) HP:0010628
24 hydrocephalus 31 occasional (7.5%) HP:0000238
25 increased intracranial pressure 31 occasional (7.5%) HP:0002516
26 obesity 31 occasional (7.5%) HP:0001513
27 ophthalmoplegia 31 occasional (7.5%) HP:0000602
28 abnormality of the sense of smell 31 occasional (7.5%) HP:0004408
29 abnormal cerebellum morphology 31 occasional (7.5%) HP:0001317
30 neurofibromas 31 occasional (7.5%) HP:0001067
31 hemiparesis 31 occasional (7.5%) HP:0001269
32 trigeminal neuralgia 31 occasional (7.5%) HP:0100661
33 difficulty walking 31 occasional (7.5%) HP:0002355
34 oculomotor nerve palsy 31 occasional (7.5%) HP:0012246
35 visual acuity test abnormality 31 occasional (7.5%) HP:0030532
36 upper limb muscle weakness 31 occasional (7.5%) HP:0003484
37 papilledema 31 occasional (7.5%) HP:0001085
38 enlarged pituitary gland 31 occasional (7.5%) HP:0012505
39 slow decrease in visual acuity 31 occasional (7.5%) HP:0007924
40 lower limb muscle weakness 31 occasional (7.5%) HP:0007340
41 spinal meningioma 31 occasional (7.5%) HP:0100010
42 weak extraocular muscles 31 occasional (7.5%) HP:0007715
43 hypothalamic hypothyroidism 31 occasional (7.5%) HP:0008237
44 neoplasm of the anterior pituitary 31 occasional (7.5%) HP:0011750
45 abnormal kinetic perimetry test 31 occasional (7.5%) HP:0030591
46 reduced circulating prolactin concentration 31 occasional (7.5%) HP:0008202
47 abnormal central sensory function 31 occasional (7.5%) HP:0011730
48 neurological speech impairment 31 very rare (1%) HP:0002167
49 emotional lability 31 very rare (1%) HP:0000712
50 blindness 31 very rare (1%) HP:0000618

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
meningioma

Clinical features from OMIM®:

607174 (Updated 05-Apr-2021)

UMLS symptoms related to Meningioma, Familial:


seizures; headache

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Chlamydia trachomatis serovar L2 infection and TNF-alpha/CHX stimulation GR00206-A 8.8 AKT1 NOS2 RDX

MGI Mouse Phenotypes related to Meningioma, Familial:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 AKT1 ALPL DNMT1 EPB41L3 MN1 NF2
2 immune system MP:0005387 10.34 AKT1 ALPL AP1B1 DNMT1 EZR NF2
3 mortality/aging MP:0010768 10.34 AKT1 ALPL DNMT1 EPB41L3 EZR MN1
4 growth/size/body region MP:0005378 10.32 AKT1 ALPL AP1B1 DNMT1 EZR MN1
5 embryo MP:0005380 10.22 AKT1 ALPL DNMT1 NF2 PDGFB PGR
6 digestive/alimentary MP:0005381 10.19 ALPL DNMT1 EZR MN1 NOS2 PTCH1
7 integument MP:0010771 10.18 AKT1 DNMT1 NF2 NOS2 PDGFB PGR
8 neoplasm MP:0002006 10.11 AKT1 DNMT1 EPB41L3 MN1 NF2 NOS2
9 nervous system MP:0003631 10.1 AKT1 ALPL DNMT1 EPB41L3 NF2 NOS2
10 liver/biliary system MP:0005370 10.06 AKT1 NF2 NOS2 PDGFB PTEN RDX
11 muscle MP:0005369 10.01 AKT1 ALPL NOS2 PDGFB PGR PTCH1
12 reproductive system MP:0005389 9.93 AKT1 ALPL DNMT1 EPB41L3 NF2 NOS2
13 pigmentation MP:0001186 9.65 DNMT1 PDGFB PTCH1 PTEN SUFU
14 respiratory system MP:0005388 9.65 AKT1 ALPL AP1B1 MN1 NF2 NOS2
15 skeleton MP:0005390 9.36 AKT1 ALPL AP1B1 MN1 NF2 NOS2

Drugs & Therapeutics for Meningioma, Familial

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

(show top 50) (show all 177)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
2
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
3
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
4
Thrombin Approved, Investigational Phase 4
5
Tranexamic Acid Approved Phase 4 1197-18-8 5526
6
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
7
Racepinephrine Approved Phase 4 329-65-7 838
8
Prilocaine Approved Phase 4 721-50-6 4906
9
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
11 Dermatologic Agents Phase 4
12 Vitamin B9 Phase 4
13 Folic Acid Antagonists Phase 4
14 Antirheumatic Agents Phase 4
15 Vitamin B Complex Phase 4
16 Folate Phase 4
17 Fibrin Tissue Adhesive Phase 4
18 Coagulants Phase 4
19 Antifibrinolytic Agents Phase 4
20 Hemostatics Phase 4
21 Neurotransmitter Agents Phase 4
22 Anesthetics Phase 4
23 Anesthetics, Local Phase 4
24 Vasoconstrictor Agents Phase 4
25 Adrenergic alpha-Agonists Phase 4
26 Adrenergic beta-Agonists Phase 4
27 Respiratory System Agents Phase 4
28 Anti-Asthmatic Agents Phase 4
29 Epinephryl borate Phase 4
30 Mydriatics Phase 4
31 Sympathomimetics Phase 4
32 Adrenergic Agents Phase 4
33 Adrenergic Agonists Phase 4
34 Bronchodilator Agents Phase 4
35
Mifepristone Approved, Investigational Phase 3 84371-65-3 55245
36
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
37
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
38
Cisatracurium Approved Phase 3 96946-41-7 62887
39
Sevoflurane Approved, Vet_approved Phase 3 28523-86-6 5206
40
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
41
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
42
Aminolevulinic acid Approved Phase 3 106-60-5 137
43 Progestins Phase 3
44 Contraceptives, Postcoital Phase 3
45 Contraceptives, Oral Phase 3
46 Contraceptive Agents Phase 3
47 Antihypertensive Agents Phase 3
48 Photosensitizing Agents Phase 3
49
Lactitol Approved, Investigational Phase 2 585-86-4 157355
50
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102

Interventional clinical trials:

(show top 50) (show all 158)
# 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 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)
4 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
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 PHASE 3 STUDY OF EFFICACY OF TRANEXAMIC ACID IN BRAIN TUMORS RESECTIONS Unknown status NCT01655927 Phase 3 Tranexamic Acid;Placebo: Saline
8 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
9 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
10 Double Blind Randomized Trial of the Anti-Progestational Agent Mifepristone In The Treatment of Unresectable Meningioma Completed NCT03015701 Phase 3 Mifepristone
11 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
12 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)
13 Phase III Trial of Observation Versus Irradiation for a Gross Totally Resected Grade II Meningioma Recruiting NCT03180268 Phase 3
14 Observation Versus Conventional-Fractionated Radiotherapy or Radiosurgery After Non-radical Surgery for Benign Intracranial Meningiomas: A Phase III Study Terminated NCT00104936 Phase 3
15 Effect of Hippocampal Sparing on Neurocognitive Functions and Quality of Live in Patients Irradiated in the Neurocranial Area Unknown status NCT01849484 Phase 2
16 Combination of Everolimus and Octreotide LAR in Aggressive Recurrent Meningiomas. Unknown status NCT02333565 Phase 2 Everolimus;Octreotide
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 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
19 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
20 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
21 Phase II Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Completed NCT01125046 Phase 2
22 A Phase II Trial of PTK-787 in Recurrent or Progressive Meningiomas Completed NCT00348790 Phase 2 vatalanib
23 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
24 Combination of Hydroxyurea and Verapamil for Refractory Meningiomas Completed NCT00706810 Phase 2 Hydroxyurea;Verapamil
25 Trabectedin for Recurrent Grade II or III Meningioma: a Randomized Phase II Study of the EORTC Brain Tumor Group Completed NCT02234050 Phase 2 Trabectedin
26 Phase II Trial of STI571 (NSC 716051) in Patients With Recurrent Meningioma Completed NCT00045734 Phase 2 imatinib mesylate
27 Peptide Receptor Radionuclide Therapy Administered to Participants With Meningioma With 67Cu-SARTATE™: 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
28 Phase II Study of Hydroxyurea for Unresectable Meningioma Completed NCT00003590 Phase 2 hydroxyurea
29 Phase II Study of Monthly SOM230C for Recurrent or Progressive Meningioma Completed NCT00859040 Phase 2 SOM230C
30 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
31 Phase II Study of Hydroxyurea for the Treatment of Recurrent and/or Nonoperable Meningioma Completed NCT00006119 Phase 2 hydroxyurea
32 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
33 Phase I/II Trial of STI571 (NSC 716051) in Patients With Recurrent Malignant Gliomas Completed NCT00010049 Phase 1, Phase 2 imatinib mesylate
34 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
35 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
36 A Randomized Phase II Trial of Bevacizumab to Control Brain Radiation Damage Completed NCT00492089 Phase 2 bevacizumab;placebo
37 Proton Radiation for Low Grade Gliomas Completed NCT01024907 Phase 1, Phase 2
38 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
39 Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2) Recruiting NCT04374305 Phase 2 Brigatinib
40 A Phase 2 Study of Abemaciclib in Patients With Recurrent Brain Tumors Recruiting NCT03220646 Phase 2 abemaciclib;abemaciclib
41 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
42 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
43 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
44 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
45 A Phase II, Open-label, Single Arm Trial of Pembrolizumab for Refractory Atypical and Anaplastic Meningioma Recruiting NCT03016091 Phase 2 Pembrolizumab
46 Phase II Trial of Pembrolizumab in Recurrent or Residual High Grade Meningioma Recruiting NCT03279692 Phase 2 Pembrolizumab
47 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
48 Phase I/II Study of Radiation Therapy Followed by Intrathecal Trastuzumab/Pertuzumab in the Management of HER2+ Breast Leptomeningeal Disease Recruiting NCT04588545 Phase 1, Phase 2 Pertuzumab;Trastuzumab
49 Phase II Trial of the Immune Checkpoint Inhibitor Nivolumab in Patients With Recurrent Select Rare CNS Cancers Recruiting NCT03173950 Phase 2 Nivolumab
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 70 / NDF-RT 51 :


Cytarabine
Cytarabine liposome
Mifepristone

Cochrane evidence based reviews: meningioma, familial

Genetic Tests for Meningioma, Familial

Genetic tests related to Meningioma, Familial:

# Genetic test Affiliating Genes
1 Meningioma, Familial 29 MN1 NF2 PDGFB PTEN SMARCE1 SUFU
2 Meningioma 29

Anatomical Context for Meningioma, Familial

MalaCards organs/tissues related to Meningioma, Familial:

40
Brain, Pituitary, Spinal Cord, Breast, Pineal, Bone, Endothelial

Publications for Meningioma, Familial

Articles related to Meningioma, Familial:

(show top 50) (show all 15280)
# Title Authors PMID Year
1
Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas. 57 6 61 54
8162072 1994
2
Deletion of Alu sequences in the fifth c-sis intron in individuals with meningiomas. 61 6 57 54
2212004 1990
3
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. 6 57 61
23377182 2013
4
Loss of SUFU function in familial multiple meningioma. 61 57 6
22958902 2012
5
A novel germline mutation of PTEN associated with brain tumours of multiple lineages. 61 6 57
12085208 2002
6
Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma. 57 6 61
3969118 1985
7
Meningioma: a cytogenetic model of a complex benign human tumor, including data on 394 karyotyped cases. 54 61 57
11528114 2001
8
Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. 61 54 57
7717450 1995
9
Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma. 61 57 54
7731706 1995
10
Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene. 61 54 57
7987321 1994
11
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. 6 61
23348505 2013
12
Common variation at 10p12.31 near MLLT10 influences meningioma risk. 57 61
21804547 2011
13
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. 61 57
20930055 2011
14
INI1 mutations in meningiomas at a potential hotspot in exon 9. 54 57
11161377 2001
15
Familial meningioma: analysis of expression of neurofibromatosis 2 protein Merlin. Report of two cases. 57 61
9488313 1998
16
Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas. 61 6
7868131 1995
17
Familial meningioma is not allelic to neurofibromatosis 2. 57 61
8413972 1993
18
Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus. 61 57
8401504 1993
19
Familial CNS tumors. 61 57
1512611 1992
20
Loss of heterozygosity for chromosome 22 DNA sequences in human meningioma. 61 57
1676608 1991
21
A t(4;22) in a meningioma points to the localization of a putative tumor-suppressor gene. 57 61
2014801 1991
22
Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting. 57 61
2220822 1990
23
Parental origin of chromosome 22 alleles lost in meningioma. 57 61
1977313 1990
24
Molecular genetic analysis of chromosome 22 in 81 cases of meningioma. 61 57
2393856 1990
25
Familial meningioma. 57 61
2300254 1990
26
Loss of genes on the long arm of chromosome 22 in human meningiomas. 61 57
2897611 1988
27
Loss of heterozygosity and the origin of meningioma. 61 57
2891603 1987
28
Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma. 57 61
2892198 1987
29
Molecular genetic approach to human meningioma: loss of genes on chromosome 22. 57 61
3037550 1987
30
Familial meningiomas. Report of two cases. 61 57
3329680 1987
31
[Meningioma and acoustic neurinoma occurring in two siblings of two different families]. 61 57
6518127 1984
32
Cytological and cytogenetical studies on human meningioma. 57 61
6288229 1982
33
Familial occurrence of meningioma: a case report. 57 61
6926386 1981
34
Cranial and spinal meningiomas in a pair of identical twin boys. 57 61
4714099 1973
35
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 6
28677221 2017
36
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 6
25157968 2014
37
Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. 57
23334667 2013
38
Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. 57
22038540 2012
39
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. 57
19582488 2010
40
Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway. 47 61
19703993 2009
41
Multiple meningiomas in brain and lung due to acquired mutation of the NF2 gene. 57
15159511 2004
42
Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11. 57
7731705 1995
43
Cytogenetic, molecular genetic and pathological analyses in 126 meningiomas. 57
7876890 1995
44
Multiple meningiomas in a patient with constitutional ring chromosome 22. 57
8213904 1993
45
Cancer. A gene for neurofibromatosis 2. 57
8505975 1993
46
Molecular genetics of neurological tumours. 57
1320124 1992
47
A point mutation in the last intron responsible for increased expression and transforming activity of the c-Ha-ras oncogene. 6
3133569 1988
48
Cytogenetic studies in 50 meningiomas. 57
3162394 1988
49
Recessive cancer genes in meningiomas? An analysis of 31 cases. 57
3472644 1987
50
Multifocal meningiomas in a patient with a constitutional ring chromosome 22. 57
3712397 1986

Variations for Meningioma, Familial

ClinVar genetic disease variations for Meningioma, Familial:

6 (show top 50) (show all 295)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF2 NM_000268.4(NF2):c.995del (p.Lys332fs) Deletion Pathogenic 3284 rs587776563 GRCh37: 22:30064429-30064429
GRCh38: 22:29668440-29668440
2 SMARCE1 NM_003079.5(SMARCE1):c.624_627del (p.Ser208fs) Deletion Pathogenic 212264 rs797045990 GRCh37: 17:38788534-38788537
GRCh38: 17:40632282-40632285
3 PDGFB PDGFB, 135-BP DEL, IVS5 Deletion Pathogenic 12598 GRCh37:
GRCh38:
4 SMARCE1 NM_003079.5(SMARCE1):c.525del (p.Ala176fs) Deletion Pathogenic 239495 rs878854603 GRCh37: 17:38792199-38792199
GRCh38: 17:40635947-40635947
5 SMARCE1 NM_003079.5(SMARCE1):c.313C>T (p.Arg105Ter) SNV Pathogenic 407072 rs1060501395 GRCh37: 17:38792703-38792703
GRCh38: 17:40636451-40636451
6 SMARCE1 NM_003079.5(SMARCE1):c.757C>T (p.Gln253Ter) SNV Pathogenic 463432 rs1555605347 GRCh37: 17:38787903-38787903
GRCh38: 17:40631651-40631651
7 SMARCE1 NM_003079.5(SMARCE1):c.454_455delinsT (p.Ala152fs) Indel Pathogenic 532251 rs1555605750 GRCh37: 17:38792269-38792270
GRCh38: 17:40636017-40636018
8 NF2 NM_000268.4(NF2):c.885+1G>A SNV Pathogenic 930282 GRCh37: 22:30061054-30061054
GRCh38: 22:29665065-29665065
9 SMARCE1 NM_003079.5(SMARCE1):c.340G>T (p.Glu114Ter) SNV Pathogenic 953673 GRCh37: 17:38792676-38792676
GRCh38: 17:40636424-40636424
10 SMARCE1 NM_003079.5(SMARCE1):c.871C>T (p.Gln291Ter) SNV Pathogenic 957528 GRCh37: 17:38787122-38787122
GRCh38: 17:40630870-40630870
11 PTEN NM_000314.7(PTEN):c.253+2T>A SNV Pathogenic 468676 rs1224040268 GRCh37: 10:89690848-89690848
GRCh38: 10:87931091-87931091
12 PTEN NM_000314.7(PTEN):c.860C>G (p.Ser287Ter) SNV Pathogenic 216987 rs863224909 GRCh37: 10:89720709-89720709
GRCh38: 10:87960952-87960952
13 PTEN NM_000314.8(PTEN):c.209+2T>C SNV Pathogenic 584751 rs878853937 GRCh37: 10:89685316-89685316
GRCh38: 10:87925559-87925559
14 PTEN NM_000314.7(PTEN):c.48T>G (p.Tyr16Ter) SNV Pathogenic 536556 rs587782187 GRCh37: 10:89624274-89624274
GRCh38: 10:87864517-87864517
15 NF2 NM_000268.4(NF2):c.169C>T (p.Arg57Ter) SNV Pathogenic 3285 rs121434259 GRCh37: 22:30032794-30032794
GRCh38: 22:29636805-29636805
16 PTEN NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) SNV Pathogenic 7833 rs121909231 GRCh37: 10:89720852-89720852
GRCh38: 10:87961095-87961095
17 PTEN NM_000314.7(PTEN):c.209+1G>A SNV Pathogenic 418434 rs1554897280 GRCh37: 10:89685315-89685315
GRCh38: 10:87925558-87925558
18 PTEN NM_000314.7(PTEN):c.492+1G>T SNV Pathogenic 427619 rs1554898242 GRCh37: 10:89693009-89693009
GRCh38: 10:87933252-87933252
19 PTEN NM_000314.7(PTEN):c.701G>A (p.Arg234Gln) SNV Pathogenic 7840 rs121909235 GRCh37: 10:89717676-89717676
GRCh38: 10:87957919-87957919
20 PTEN NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) SNV Pathogenic 189500 rs121913293 GRCh37: 10:89711899-89711899
GRCh38: 10:87952142-87952142
21 AKT1 NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) SNV Likely pathogenic 13983 rs121434592 GRCh37: 14:105246551-105246551
GRCh38: 14:104780214-104780214
22 PTEN NM_000314.7(PTEN):c.103A>G (p.Met35Val) SNV Likely pathogenic 231916 rs876659443 GRCh37: 10:89653805-89653805
GRCh38: 10:87894048-87894048
23 SMARCE1 NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter) SNV risk factor 55832 rs397509405 GRCh37: 17:38787945-38787945
GRCh38: 17:40631693-40631693
24 PTEN NM_000314.7(PTEN):c.16A>G (p.Lys6Glu) SNV Likely pathogenic 644390 rs1589596143 GRCh37: 10:89624242-89624242
GRCh38: 10:87864485-87864485
25 PTEN NM_000314.7(PTEN):c.404T>A (p.Ile135Lys) SNV Likely pathogenic 428235 rs370795352 GRCh37: 10:89692920-89692920
GRCh38: 10:87933163-87933163
26 SMARCE1 NM_003079.5(SMARCE1):c.369+1G>T SNV Likely pathogenic 861686 GRCh37: 17:38792646-38792646
GRCh38: 17:40636394-40636394
27 SMARCE1 NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys) SNV Likely pathogenic 30316 rs387906857 GRCh37: 17:38793763-38793763
GRCh38: 17:40637511-40637511
28 SMARCE1 NM_003079.5(SMARCE1):c.541+1G>A SNV Likely pathogenic 641297 rs1597746020 GRCh37: 17:38792182-38792182
GRCh38: 17:40635930-40635930
29 DNMT1 NM_001130823.3(DNMT1):c.1645-1G>T SNV Likely pathogenic 635178 rs1568234664 GRCh37: 19:10265450-10265450
GRCh38: 19:10154774-10154774
30 SUFU NM_016169.4(SUFU):c.367C>T (p.Arg123Cys) SNV risk factor 37215 rs202247756 GRCh37: 10:104309776-104309776
GRCh38: 10:102550019-102550019
31 SMARCE1 NM_003079.5(SMARCE1):c.237+2T>C SNV risk factor 55833 rs397509406 GRCh37: 17:38793742-38793742
GRCh38: 17:40637490-40637490
32 SMARCE1 NM_003079.5(SMARCE1):c.311G>A (p.Trp104Ter) SNV risk factor 55834 rs397509407 GRCh37: 17:38792705-38792705
GRCh38: 17:40636453-40636453
33 SMARCE1 NM_003079.5(SMARCE1):c.572dup (p.Ala192fs) Duplication risk factor 55835 rs397509408 GRCh37: 17:38788588-38788589
GRCh38: 17:40632336-40632337
34 SMARCE1 NM_003079.5(SMARCE1):c.484T>A (p.Ser162Thr) SNV Uncertain significance 239494 rs878854602 GRCh37: 17:38792240-38792240
GRCh38: 17:40635988-40635988
35 SMARCE1 NM_003079.5(SMARCE1):c.149G>A (p.Arg50Gln) SNV Uncertain significance 407069 rs1060501394 GRCh37: 17:38798714-38798714
GRCh38: 17:40642462-40642462
36 SMARCE1 NM_003079.5(SMARCE1):c.1016C>T (p.Pro339Leu) SNV Uncertain significance 407078 rs1060501398 GRCh37: 17:38786977-38786977
GRCh38: 17:40630725-40630725
37 SMARCE1 NM_003079.5(SMARCE1):c.440G>A (p.Ser147Asn) SNV Uncertain significance 463423 rs779169160 GRCh37: 17:38792284-38792284
GRCh38: 17:40636032-40636032
38 SMARCE1 NM_003079.5(SMARCE1):c.817-3T>C SNV Uncertain significance 463435 rs779984224 GRCh37: 17:38787179-38787179
GRCh38: 17:40630927-40630927
39 SMARCE1 NM_003079.5(SMARCE1):c.1082C>T (p.Thr361Met) SNV Uncertain significance 463412 rs766200637 GRCh37: 17:38785191-38785191
GRCh38: 17:40628939-40628939
40 SMARCE1 NM_003079.5(SMARCE1):c.370-6T>C SNV Uncertain significance 407077 rs1060501397 GRCh37: 17:38792360-38792360
GRCh38: 17:40636108-40636108
41 SMARCE1 NM_003079.5(SMARCE1):c.1212A>G (p.Ile404Met) SNV Uncertain significance 407074 rs1060501396 GRCh37: 17:38785061-38785061
GRCh38: 17:40628809-40628809
42 SMARCE1 NM_003079.5(SMARCE1):c.509A>G (p.Tyr170Cys) SNV Uncertain significance 532235 rs1555605744 GRCh37: 17:38792215-38792215
GRCh38: 17:40635963-40635963
43 SMARCE1 NM_003079.5(SMARCE1):c.932C>T (p.Ala311Val) SNV Uncertain significance 532236 rs768536854 GRCh37: 17:38787061-38787061
GRCh38: 17:40630809-40630809
44 SMARCE1 NM_003079.5(SMARCE1):c.1233A>G (p.Glu411=) SNV Uncertain significance 532237 rs1555605056 GRCh37: 17:38785040-38785040
GRCh38: 17:40628788-40628788
45 SMARCE1 NM_003079.5(SMARCE1):c.1156A>G (p.Asn386Asp) SNV Uncertain significance 532239 rs1555605077 GRCh37: 17:38785117-38785117
GRCh38: 17:40628865-40628865
46 SMARCE1 NM_003079.5(SMARCE1):c.896G>T (p.Arg299Met) SNV Uncertain significance 532240 rs1555605248 GRCh37: 17:38787097-38787097
GRCh38: 17:40630845-40630845
47 SMARCE1 NM_003079.5(SMARCE1):c.1055A>G (p.Glu352Gly) SNV Uncertain significance 532242 rs1198138077 GRCh37: 17:38785218-38785218
GRCh38: 17:40628966-40628966
48 SMARCE1 NM_003079.5(SMARCE1):c.790G>A (p.Asp264Asn) SNV Uncertain significance 532243 rs1555605342 GRCh37: 17:38787870-38787870
GRCh38: 17:40631618-40631618
49 SMARCE1 NM_003079.5(SMARCE1):c.971A>T (p.Gln324Leu) SNV Uncertain significance 532244 rs1555605231 GRCh37: 17:38787022-38787022
GRCh38: 17:40630770-40630770
50 SMARCE1 NM_003079.5(SMARCE1):c.767A>C (p.Lys256Thr) SNV Uncertain significance 532245 rs542193901 GRCh37: 17:38787893-38787893
GRCh38: 17:40631641-40631641

Cosmic variations for Meningioma, Familial:

9 (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 15
2 COSM84674285 SMO meninges,NS,meningioma,meningothelial c.1604G>T p.W535L 7:129210500-129210500 15
3 COSM130247104 NTRK1 meninges,NS,meningioma,atypical c.1404C>A p.F468L 1:156875569-156875569 15
4 COSM101214344 NTRK1 meninges,NS,meningioma,atypical c.1296C>A p.F432L 1:156875569-156875569 15
5 COSM96922785 NTRK1 meninges,NS,meningioma,atypical c.1386C>A p.F462L 1:156875569-156875569 15
6 COSM95004208 NTRK1 meninges,NS,meningioma,atypical c.1386C>A p.F462L 1:156875569-156875569 15
7 COSM94457312 NF2 meninges,NS,meningioma,meningothelial c.240+2212A>C p.? 22:29639088-29639088 15
8 COSM94454256 NF2 meninges,NS,meningioma,meningothelial c.1141G>T p.E381* 22:29673410-29673410 15
9 COSM95491089 NF2 meninges,NS,meningioma,atypical c.115-2285C>T p.? 22:29636805-29636805 15
10 COSM94455522 NF2 meninges,NS,meningioma,meningothelial c.511C>T p.Q171* 22:29658223-29658223 15
11 COSM94452265 NF2 meninges,NS,meningioma,atypical c.169C>T p.R57* 22:29636805-29636805 15
12 COSM102838922 NF2 meninges,NS,meningioma,meningothelial c.364-1G>C p.? 22:29642201-29642201 15
13 COSM89039211 NF2 meninges,NS,meningioma,meningothelial c.517-1G>A p.? 22:29655593-29655593 15
14 COSM105506877 NF2 meninges,NS,meningioma,meningothelial c.552G>A p.W184* 22:29655629-29655629 15
15 COSM92438040 NF2 meninges,NS,meningioma,atypical c.115-5452G>C p.? 22:29636750-29636750 15
16 COSM94452723 NF2 meninges,NS,meningioma,meningothelial c.832C>T p.Q278* 22:29668402-29668402 15
17 COSM95499482 NF2 meninges,NS,meningioma,atypical c.114+1G>T p.? 22:29604113-29604113 15
18 COSM93468563 NF2 meninges,NS,meningioma,atypical c.634C>T p.Q212* 22:29658223-29658223 15
19 COSM89035345 NF2 meninges,NS,meningioma,meningothelial c.1264G>T p.E422* 22:29673410-29673410 15
20 COSM105109256 NF2 meninges,NS,meningioma,meningothelial c.448-19918A>G p.? 22:29674834-29674834 15
21 COSM102836959 NF2 meninges,NS,meningioma,atypical c.592C>T p.R198* 22:29655669-29655669 15
22 COSM102836723 NF2 meninges,NS,meningioma,atypical c.169C>T p.R57* 22:29636805-29636805 15
23 COSM102846282 NF2 meninges,NS,meningioma,meningothelial c.1341-2A>G p.? 22:29674834-29674834 15
24 COSM92443491 NF2 meninges,NS,meningioma,atypical c.114+1G>T p.? 22:29604113-29604113 15
25 COSM95496378 NF2 meninges,NS,meningioma,meningothelial c.115-2A>C p.? 22:29639088-29639088 15
26 COSM102648110 NF2 meninges,NS,meningioma,meningothelial c.1264G>T p.E422* 22:29673410-29673410 15
27 COSM105101709 NF2 meninges,NS,meningioma,meningothelial c.448-21342G>T p.? 22:29673410-29673410 15
28 COSM89036688 NF2 meninges,NS,meningioma,atypical c.634C>T p.Q212* 22:29658223-29658223 15
29 COSM89035309 NF2 meninges,NS,meningioma,meningothelial c.1198C>T p.Q400* 22:29673344-29673344 15
30 COSM93466045 NF2 meninges,NS,meningioma,meningothelial c.784C>T p.R262* 22:29661313-29661313 15
31 COSM95491285 NF2 meninges,NS,meningioma,meningothelial c.658C>T p.R220* 22:29661313-29661313 15
32 COSM105104640 NF2 meninges,NS,meningioma,meningothelial c.241-2A>C p.? 22:29639088-29639088 15
33 COSM105505219 NF2 meninges,NS,meningioma,meningothelial c.1254-1G>A p.? 22:29674835-29674835 15
34 COSM95501313 NF2 meninges,NS,meningioma,meningothelial c.425G>A p.W142* 22:29655628-29655628 15
35 COSM92437634 NF2 meninges,NS,meningioma,meningothelial c.115-1G>C p.? 22:29642201-29642201 15
36 COSM89035164 NF2 meninges,NS,meningioma,meningothelial c.1341-1G>A p.? 22:29674835-29674835 15
37 COSM105503658 NF2 meninges,NS,meningioma,atypical c.1000-78C>T p.? 22:29671835-29671835 15
38 COSM105503556 NF2 meninges,NS,meningioma,meningothelial c.784C>T p.R262* 22:29661313-29661313 15
39 COSM105101234 NF2 meninges,NS,meningioma,meningothelial c.448-21265G>A p.? 22:29673487-29673487 15
40 COSM89062499 NF2 meninges,NS,meningioma,meningothelial c.268-1G>A p.? 22:29655593-29655593 15
41 COSM89033278 NF2 meninges,NS,meningioma,meningothelial c.784C>T p.R262* 22:29661313-29661313 15
42 COSM92435554 NF2 meninges,NS,meningioma,atypical c.198+1G>A p.? 22:29642286-29642286 15
43 COSM102648416 NF2 meninges,NS,meningioma,meningothelial c.364-1G>C p.? 22:29642201-29642201 15
44 COSM102649643 NF2 meninges,NS,meningioma,meningothelial c.552G>A p.W184* 22:29655629-29655629 15
45 COSM105103262 NF2 meninges,NS,meningioma,meningothelial c.447+13344G>A p.? 22:29655629-29655629 15
46 COSM102838614 NF2 meninges,NS,meningioma,meningothelial c.1264G>T p.E422* 22:29673410-29673410 15
47 COSM102841999 NF2 meninges,NS,meningioma,meningothelial c.517-1G>A p.? 22:29655593-29655593 15
48 COSM94463878 NF2 meninges,NS,meningioma,meningothelial c.477-3C>G p.? 22:29658186-29658186 15
49 COSM95500693 NF2 meninges,NS,meningioma,meningothelial c.1215-2A>G p.? 22:29674834-29674834 15
50 COSM102847267 NF2 meninges,NS,meningioma,meningothelial c.551G>A p.W184* 22:29655628-29655628 15

Copy number variations for Meningioma, Familial from CNVD:

7
# 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

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:

# Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 9.43 PTCH1 NF2 EZR
2 nBAF complex GO:0071565 9.32 SMARCE1 SMARCB1
3 npBAF complex GO:0071564 9.16 SMARCE1 SMARCB1
4 filopodium GO:0030175 9.13 RDX NF2 EZR
5 cell tip GO:0051286 8.62 RDX EZR

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.8 PTCH1 NOS2 NF2 DNMT1
2 protein localization to plasma membrane GO:0072659 9.67 RDX PTCH1 EZR EPB41L3
3 positive regulation of blood vessel endothelial cell migration GO:0043536 9.58 PDGFB MIR200A AKT1
4 positive regulation of cellular protein catabolic process GO:1903364 9.56 RDX EZR
5 protein kinase A signaling GO:0010737 9.55 RDX EZR
6 negative regulation of gene expression GO:0010629 9.55 PGR PDGFB NOS2 DNMT1 AKT1
7 sphingosine-1-phosphate receptor signaling pathway GO:0003376 9.54 EZR AKT1
8 mammary gland epithelial cell differentiation GO:0060644 9.52 PTCH1 AKT1
9 positive regulation of protein localization to early endosome GO:1902966 9.51 RDX EZR
10 positive regulation of early endosome to late endosome transport GO:2000643 9.48 RDX EZR
11 paracrine signaling GO:0038001 9.46 PGR PDGFB
12 interleukin-18-mediated signaling pathway GO:0035655 9.43 PDGFB AKT1
13 positive regulation of gene expression GO:0010628 9.43 RDX PTEN PDGFB EZR DNMT1 AKT1
14 regulation of organelle assembly GO:1902115 9.32 RDX EZR
15 cellular response to decreased oxygen levels GO:0036294 9.26 PTEN AKT1
16 negative regulation of cell size GO:0045792 8.8 RDX PTEN AKT1

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

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor receptor binding GO:0005161 9.16 PTEN PDGFB
2 ATPase binding GO:0051117 9.13 RDX PGR EZR
3 cytoskeletal protein binding GO:0008092 8.92 RDX NF2 EZR EPB41L3

Sources for Meningioma, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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