MNGMA
MCID: MNN043
MIFTS: 59

Meningioma, Familial (MNGMA) malady

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

Aliases & Classifications for Meningioma, Familial

Aliases & Descriptions for Meningioma, Familial:

Name: Meningioma, Familial 54 42
Meningioma 54 12 50 24 66 29 13 52 14 69
Familial Meningioma 12 66 29 14 69
Intracranial Meningioma 12 52 69
Supratentorial Meningioma 12 69
Meningioma, Sis-Related 54 13
Meningeal Neoplasms 42 69
Meningioma, Familial, Susceptibility to 54
Meningioma, Benign, No Icd-O Subtype 69
Meningioma, Nf2-Related, Somatic 54
Familial Multiple Meningioma 56
Meningothelial Cell Neoplasm 69
Meningothelial Cell Tumor 12
Neoplasm of the Meninges 12
Primary Meningeal Tumor 12
Meningeal Neoplasm 12
Mngma 66

Characteristics:

Orphanet epidemiological data:

56
familial multiple meningioma
Inheritance: Autosomal dominant; Age of onset: All ages;

HPO:

32
meningioma, familial:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Meningioma, Familial

NIH Rare Diseases : 50 meningiomas originate in the meninges, the membranes that surround the brain and spinal cord. most meningiomas are benign, though a minority of meningiomas can be classified as atypical or malignant. though rare, malignant meningiomas can be highly aggressive. however, even benign meningiomas can cause problems if their growth affects the neighboring areas of the brain. though most meningiomas grow slowly, there is no way to predict the rate of growth for a particular meningioma or to know how long a specific meningioma was growing before it was diagnosed. signs and symptoms can vary but may include seizures, headaches, weakness in the arms and legs, and vision loss. sometimes memory loss, carelessness, and unsteadiness are the only symptoms. last updated: 10/23/2015

MalaCards based summary : Meningioma, Familial, also known as meningioma, is related to pituitary stalk meningioma and spinal meningioma, and has symptoms including meningioma, 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 Cytoskeletal Signaling and MicroRNAs in cancer. The drugs Cytarabine and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord, and related phenotypes are Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) and Increased Nanog expression

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

OMIM : 54 Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges,... (607174) more...

UniProtKB/Swiss-Prot : 66 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.

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 171)
id Related Disease Score Top Affiliating Genes
1 pituitary stalk meningioma 33.1 ESR1 PGR PTEN
2 spinal meningioma 12.2
3 optic nerve sheath meningioma 12.1
4 intraorbital meningioma 12.0
5 rhabdoid meningioma 11.9
6 lung meningioma 11.8
7 benign meningioma 11.8
8 secretory meningioma 11.8
9 cerebral meningioma 11.8
10 lymphoplasmacyte-rich meningioma 11.8
11 chordoid meningioma 11.8
12 fibrous meningioma 11.8
13 transitional meningioma 11.8
14 skull base meningioma 11.8
15 cerebellopontine angle meningioma 11.8
16 olfactory groove meningioma 11.8
17 tuberculum sellae meningioma 11.8
18 foramen magnum meningioma 11.8
19 cavernous sinus meningioma 11.8
20 meningothelial meningioma 11.8
21 clear cell meningioma 11.8
22 brain meningioma 11.8
23 pineal region meningioma 11.8
24 parasagittal meningioma 11.8
25 petrous apex meningioma 11.8
26 intraventricular meningioma 11.8
27 clivus meningioma 11.8
28 anterior cranial fossa meningioma 11.8
29 petroclival meningioma 11.8
30 microcystic meningioma 11.8
31 choroid plexus meningioma 11.8
32 suprasellar meningioma 11.8
33 angiomatous meningioma 11.8
34 jugular foramen meningioma 11.8
35 psammomatous meningioma 11.8
36 parapharyngeal meningioma 11.8
37 sphenoorbital meningioma 11.8
38 diaphragma sellae meningioma 11.8
39 lateral ventricle meningioma 11.8
40 middle cranial fossa meningioma 11.8
41 frontal convexity meningioma 11.8
42 anterior foramen magnum meningioma 11.8
43 pediatric meningioma 11.7
44 meningioma, radiation-induced 11.7
45 intracerebral cystic meningioma 11.7
46 meningioma, familial susceptibility 11.7
47 multiple skull base meningioma 11.7
48 cerebral falx meningioma 11.6
49 cerebral convexity meningioma 11.6
50 internal auditory canal meningioma 11.6

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



Diseases related to Meningioma, Familial

Symptoms & Phenotypes for Meningioma, Familial

Symptoms by clinical synopsis from OMIM:

607174

Clinical features from OMIM:

607174

Human phenotypes related to Meningioma, Familial:

32
id Description HPO Frequency HPO Source Accession
1 meningioma 32 HP:0002858

UMLS symptoms related to Meningioma, Familial:


headache, seizures

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.26 PTEN ESR1 MKI67 PCNA
2 Increased Nanog expression GR00371-A-1 9.02 MKI67 PCNA SMARCB1 SMARCE1
3 Increased Nanog expression GR00371-A-2 9.02 SMARCE1

MGI Mouse Phenotypes related to Meningioma, Familial:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 SMARCB1 SST VIM RDX S100B EPB41L3
2 mortality/aging MP:0010768 10.27 EPB41L3 ESR1 EZR GFAP MN1 NF2
3 homeostasis/metabolism MP:0005376 10.25 ESR1 GFAP MN1 NF2 PDGFB PGR
4 immune system MP:0005387 10.22 SST SUFU VIM ESR1 EZR GFAP
5 digestive/alimentary MP:0005381 10.08 ESR1 EZR GFAP MN1 PTEN SMARCB1
6 embryo MP:0005380 10.06 ESR1 NF2 PDGFB PGR PTEN SMARCB1
7 nervous system MP:0003631 10 EPB41L3 ESR1 GFAP NF2 PDGFB PTEN
8 neoplasm MP:0002006 9.92 EPB41L3 ESR1 MN1 NF2 PGR PTEN
9 normal MP:0002873 9.85 EPB41L3 ESR1 GFAP MKI67 MSN PGR
10 reproductive system MP:0005389 9.61 ESR1 NF2 PCNA PDGFB PGR PTEN
11 respiratory system MP:0005388 9.17 NF2 PDGFB ESR1 MN1 PTEN SUFU

Drugs & Therapeutics for Meningioma, Familial

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

(show top 50) (show all 388)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cytarabine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 147-94-4 6253
2
Methotrexate Approved Phase 4,Phase 3,Phase 2 1959-05-2, 59-05-2 126941
3
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
4
Lenograstim Approved Phase 4,Phase 2,Phase 1 135968-09-1
5
Thiotepa Approved Phase 4,Phase 1 52-24-4 5453
6
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-05-9 54575, 6560146 143
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
8 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Folic Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
10 Coagulants Phase 4,Phase 3
11 Hemostatics Phase 4,Phase 3
12 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
13 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Antilymphocyte Serum Phase 4,Phase 2
18 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
19 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2,Phase 1
20 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2,Phase 1
22 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Thrombin Phase 4
24 Fibrin Tissue Adhesive Phase 4
25 Folate Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
27
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3, Phase 1 50-02-2 5743
28
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
29
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
30
Tranexamic Acid Approved Phase 3 1197-18-8 5526
31
Ofloxacin Approved Phase 3 82419-36-1 4583
32
Cefepime Approved Phase 3 88040-23-7 5479537
33
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
34
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
35
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
36
Mifepristone Approved, Investigational Phase 3 84371-65-3 55245
37
Cisplatin Approved Phase 3,Phase 2 15663-27-1 84093 441203 2767
38
Morphine Approved, Investigational Phase 3 57-27-2 5288826
39
Captopril Approved Phase 3 62571-86-2 44093
40
Donepezil Approved Phase 3,Phase 2 120014-06-4 3152
41
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
42
Ribavirin Approved Phase 3 36791-04-5 37542
43
Fluconazole Approved Phase 3 86386-73-4 3365
44
Histamine Approved, Investigational Phase 3,Phase 2 75614-87-8, 51-45-6 774
45
Cyproheptadine Approved Phase 3,Phase 2 129-03-3 2913
46
Ondansetron Approved Phase 3 99614-02-5 4595
47
Vancomycin Approved Phase 3 1404-90-6 441141 14969
48
Itraconazole Approved, Investigational Phase 3 84625-61-6 55283
49
Tazobactam Approved Phase 3 89786-04-9 123630
50
Piperacillin Approved Phase 3 66258-76-2 43672

Interventional clinical trials:

(show top 50) (show all 310)
id Name Status NCT ID Phase
1 DepoCyt Therapy in Patients With Neoplastic Meningitis From Lymphoma or a Solid Tumor Completed NCT00029523 Phase 4
2 Phase IV Bioseal Study in Brain Tumor Surgery Completed NCT02034799 Phase 4
3 Bone Marrow Transplantation in Treating Patients With Hematologic Cancer Completed NCT00003398 Phase 4
4 Cavernous Sinus Dissection and Bleeding in Meningiomas Recruiting NCT02863484 Phase 4
5 Different Dose of Methotrexate for the Treatment of Meningeal Carcinomatosis Not yet recruiting NCT02590510 Phase 4
6 Efficacy of Tranexamic Acid in Brain Tumor Resections Unknown status NCT01655927 Phase 3
7 SCRT Versus Conventional RT in Children and Young Adults With Low Grade and Benign Brain Tumors Unknown status NCT00517959 Phase 3
8 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3
9 Levofloxacin Compared With Cefepime in Treating Cancer Patients With Fever and Neutropenia Unknown status NCT00020865 Phase 3
10 Treatment of Acute Lymphoblastic Leukemia or Aggressive Lymphoma With Relapse in Central Nervous System With Depocyt Unknown status NCT00199108 Phase 2, Phase 3
11 S9005 Mifepristone in Meningioma Completed NCT03015701 Phase 3
12 Proton/Photon Rt - Benign Meningiomas(P92-13) Completed NCT02947984 Phase 3
13 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
14 Donepezil in Treating Patients Who Have Undergone Radiation Therapy for Brain Tumors Completed NCT00369785 Phase 3
15 Dalteparin to Prevent Complications in Cancer Patients Receiving Chemotherapy Through a Catheter Completed NCT00006083 Phase 3
16 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
17 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
18 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3
19 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3
20 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3
21 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
22 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3
23 Ribavirin With or Without Monoclonal Antibody Therapy in Treating Patients Who Develop RSV Pneumonia Following Peripheral Stem Cell Transplantation Completed NCT00014391 Phase 3
24 Itraconazole Compared With Fluconazole to Prevent Infections in Patients Undergoing Peripheral Stem Cell or Bone Marrow Transplantation Completed NCT00003883 Phase 3
25 Prevention of Infection in Patients With Hematologic Cancer and Persistent Fever Caused by a Low White Blood Cell Count Completed NCT00003805 Phase 3
26 Captopril in Treating Patients Undergoing Bone Marrow or Stem Cell Transplantation Completed NCT00004230 Phase 3
27 Interest of Intrathecal Chemotherapy With Liposomal Cytarabine (DepoCyte®) in Meningeal Metastasis of Breast Cancer Recruiting NCT01645839 Phase 3
28 CNS Prophylaxis in Diffuse Large B-cell Lymphoma Recruiting NCT02777736 Phase 3
29 Acupressure in Controlling Nausea in Young Patients Receiving Highly Emetogenic Chemotherapy Active, not recruiting NCT01346267 Phase 3
30 Adjunctive Corticosteroids for Tuberculous Meningitis in HIV-infected Adults (The ACT HIV Trial) Not yet recruiting NCT03092817 Phase 3
31 Radiotherapy or Radiosurgery Compared With Observation Alone in Treating Patients With Newly Diagnosed, Benign Meningioma That Has Been Partially Removed by Surgery Terminated NCT00104936 Phase 3
32 Methylphenidate to Improve Quality of Life in Patients Undergoing Radiation Therapy for Brain Tumors Terminated NCT00031798 Phase 3
33 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3
34 Clinical and Pharmacological Study With 2B3-101 in Patients With Breast Cancer and Leptomeningeal Metastases Unknown status NCT01818713 Phase 2
35 Carbon Ion Radiotherapy for Atypical Meningiomas Unknown status NCT01166321 Phase 2
36 Hydroxyurea With or Without Imatinib Mesylate in Treating Patients With Recurrent or Progressive Meningioma Unknown status NCT00904735 Phase 2
37 Hydroxyurea in Treating Patients With Recurrent and/or Unresectable Meningioma Unknown status NCT00006119 Phase 2
38 Erlotinib in Treating Patients With Recurrent Malignant Glioma or Recurrent or Progressive Meningioma Unknown status NCT00045110 Phase 1, Phase 2
39 Randomized Comparison of Proton and Carbon Ion Radiotherapy With Advanced Photon Radiotherapy in Skull Base Meningiomas: The PINOCCHIO Trial. Unknown status NCT01795300 Phase 1, Phase 2
40 Umbilical Cord Blood and Placental Blood Transplantation in Treating Patients With Hematologic Cancer or Aplastic Anemia Unknown status NCT00008164 Phase 2
41 Combination Chemotherapy Followed by Donor Bone Marrow Transplant or Peripheral Stem Cell Transplant in Treating Patients With Hematologic Cancer or Genetic Disorders Unknown status NCT00008307 Phase 2
42 Safety and Efficacy of an Adult Acute Lymphoblastic Leukemia Chemotherapy for Adult Lymphoblastic Lymphoma Unknown status NCT00195871 Phase 2
43 Topotecan Hydrochloride in Treating Children With Meningeal Cancer That Has Not Responded to Previous Treatment Completed NCT00005811 Phase 2
44 A Pilot Study of Bevacizumab for Neoplastic Meningitis Completed NCT00924820 Phase 1, Phase 2
45 Bevacizumab With Etoposide and Cisplatin in Breast Cancer Patients With Brain and/or Leptomeningeal Metastasis Completed NCT01281696 Phase 2
46 Liposomal Cytarabine and High-Dose Methotrexate in Treating Patients With Central Nervous System Metastases From Breast Cancer Completed NCT00992602 Phase 2
47 Bevacizumab in Reducing CNS Side Effects in Patients Who Have Undergone Radiation Therapy to the Brain for Primary Brain Tumor, Meningioma, or Head and Neck Cancer Completed NCT00492089 Phase 2
48 Imatinib Mesylate in Treating Patients With Recurrent Meningioma Completed NCT00045734 Phase 2
49 Gefitinib in Treating Patients With Recurrent or Progressive CNS Tumors Completed NCT00025675 Phase 2
50 Irinotecan in Treating Children With Refractory Solid Tumors Completed NCT00004078 Phase 2

Search NIH Clinical Center for Meningioma, Familial

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: meningeal neoplasms

Genetic Tests for Meningioma, Familial

Genetic tests related to Meningioma, Familial:

id Genetic test Affiliating Genes
1 Meningioma, Familial 29
2 Meningioma 29 24 MN1

Anatomical Context for Meningioma, Familial

MalaCards organs/tissues related to Meningioma, Familial:

39
Brain, Spinal Cord

Publications for Meningioma, Familial

Variations for Meningioma, Familial

ClinVar genetic disease variations for Meningioma, Familial:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 NF2 NM_000268.3(NF2): c.995delA (p.Lys332Serfs) deletion Pathogenic rs587776563 GRCh37 Chromosome 22, 30064431: 30064431
2 NF2 NM_000268.3(NF2): c.169C> T (p.Arg57Ter) single nucleotide variant Pathogenic rs121434259 GRCh37 Chromosome 22, 30032794: 30032794
3 PTEN NM_000314.6(PTEN): c.701G> A (p.Arg234Gln) single nucleotide variant Pathogenic,risk factor rs121909235 GRCh37 Chromosome 10, 89717676: 89717676
4 PDGFB PDGFB, 135-BP DEL, IVS5 deletion Pathogenic
5 AKT1 NM_005163.2(AKT1): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434592 GRCh37 Chromosome 14, 105246551: 105246551
6 SMARCE1 NM_003079.4(SMARCE1): c.218A> G (p.Tyr73Cys) single nucleotide variant Pathogenic/Likely pathogenic rs387906857 GRCh37 Chromosome 17, 38793763: 38793763
7 SUFU NM_016169.3(SUFU): c.367C> T (p.Arg123Cys) single nucleotide variant risk factor rs202247756 GRCh38 Chromosome 10, 102550019: 102550019
8 SMARCE1 NM_003079.4(SMARCE1): c.311G> A (p.Trp104Ter) single nucleotide variant risk factor rs397509407 GRCh37 Chromosome 17, 38792705: 38792705
9 SMARCE1 NM_003079.4(SMARCE1): c.237+2T> C single nucleotide variant risk factor rs397509406 GRCh38 Chromosome 17, 40637490: 40637490
10 SMARCE1 NM_003079.4(SMARCE1): c.572dupC (p.Ala192Serfs) duplication risk factor rs397509408 GRCh37 Chromosome 17, 38788589: 38788589
11 SMARCE1 NM_003079.4(SMARCE1): c.715C> T (p.Arg239Ter) single nucleotide variant risk factor rs397509405 GRCh37 Chromosome 17, 38787945: 38787945
12 SMARCE1 NM_003079.4(SMARCE1): c.624_627delTGAG (p.Ser208Argfs) deletion Pathogenic rs797045990 GRCh37 Chromosome 17, 38788534: 38788537
13 SMARCE1 NM_003079.4(SMARCE1): c.525delT (p.Ala176Leufs) deletion Pathogenic rs878854603 GRCh37 Chromosome 17, 38792199: 38792199
14 SMARCE1 NM_003079.4(SMARCE1): c.313C> T (p.Arg105Ter) single nucleotide variant Pathogenic rs1060501395 GRCh38 Chromosome 17, 40636451: 40636451

Cosmic variations for Meningioma, Familial:

9 (show top 50) (show all 2025)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM13146 SMO meninges,NS,meningioma,meningothelial c.1604G>T p.W535L 21
2 COSM216037 SMO meninges,NS,meningioma,meningothelial c.1234C>T p.L412F 21
3 COSM24552 NF2 meninges,NS,meningioma,meningothelial c.1341-2A>G p.? 21
4 COSM22273 NF2 meninges,NS,meningioma,meningothelial c.1341-1G>A p.? 21
5 COSM22301 NF2 meninges,NS,meningioma,meningothelial c.1340+1G>A p.? 21
6 COSM22306 NF2 meninges,NS,meningioma,meningothelial c.600-3C>G p.? 21
7 COSM86033 NF2 meninges,NS,meningioma,meningothelial c.1264G>T p.E422* 21
8 COSM22339 NF2 meninges,NS,meningioma,meningothelial c.364-1G>C p.? 21
9 COSM22000 NF2 meninges,NS,meningioma,meningothelial c.784C>T p.R262* 21
10 COSM23845 NF2 meninges,NS,meningioma,meningothelial c.552G>A p.W184* 21
11 COSM49112 NF2 meninges,NS,meningioma,meningothelial c.517-1G>A p.? 21
12 COSM22210 NF2 meninges,NS,meningioma,meningothelial c.1198C>T p.Q400* 21
13 COSM22294 NF2 meninges,NS,meningioma,meningothelial c.551G>A p.W184* 21
14 COSM24551 NF2 meninges,NS,meningioma,meningothelial c.241-2A>C p.? 21
15 COSM49113 NF2 meninges,NS,meningioma,meningothelial c.955C>T p.Q319* 21
16 COSM33765 AKT1 meninges,NS,meningioma,meningothelial c.49G>A p.E17K 21
17 COSM21991 NF2 meninges,NS,meningioma,atypical c.169C>T p.R57* 20
18 COSM22249 NF2 meninges,NS,meningioma,atypical c.1009C>T p.Q337* 20
19 COSM22240 NF2 meninges,NS,meningioma,atypical c.634C>T p.Q212* 20
20 COSM22300 NF2 meninges,NS,meningioma,atypical c.115-1G>C p.? 20
21 COSM22254 NF2 meninges,NS,meningioma,atypical c.586C>T p.R196* 20
22 COSM24538 NF2 meninges,NS,meningioma,atypical c.810+1G>A p.? 20
23 COSM22299 NF2 meninges,NS,meningioma,atypical c.114+1G>T p.? 20
24 COSM23850 NF2 meninges,NS,meningioma,atypical c.447+1G>A p.? 20
25 COSM28746 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 10
26 COSM28747 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 10
27 COSM40802 ZW10 central nervous system,brain,glioma,NS c.2140C>T p.P714S 6
28 COSM40801 ZSWIM4 central nervous system,brain,glioma,NS c.266C>T p.P89L 6
29 COSM39611 ZPLD1 central nervous system,brain,glioma,NS c.393A>T p.G131G 6
30 COSM39318 ZNF687 central nervous system,brain,glioma,NS c.2044T>A p.C682S 6
31 COSM39317 ZNF687 central nervous system,brain,glioma,NS c.2043G>C p.Q681H 6
32 COSM40237 ZNF687 central nervous system,brain,glioma,NS c.3651C>T p.T1217T 6
33 COSM39149 ZNF507 central nervous system,brain,glioma,NS c.1517G>C p.R506T 6
34 COSM40794 ZNF473 central nervous system,brain,glioma,NS c.42C>T p.D14D 6
35 COSM39217 ZMYND8 central nervous system,brain,glioma,NS c.2162T>G p.V721G 6
36 COSM40504 ZMYND8 central nervous system,brain,glioma,NS c.2176G>A p.D726N 6
37 COSM39507 ZMAT4 central nervous system,brain,glioma,NS c.76G>A p.E26K 6
38 COSM39445 ZIC1 central nervous system,brain,glioma,NS c.57G>A p.A19A 6
39 COSM40870 ZFC3H1 central nervous system,brain,glioma,NS c.1055G>A p.S352N 6
40 COSM40793 ZFAT central nervous system,brain,glioma,NS c.1006G>A p.V336M 6
41 COSM40680 ZEB1 central nervous system,brain,glioma,NS c.1913C>T p.S638L 6
42 COSM41152 ZC3H6 central nervous system,brain,glioma,NS c.2254G>T p.G752* 6
43 COSM40778 ZBTB4 central nervous system,brain,glioma,NS c.2842C>T p.L948F 6
44 COSM40777 ZBTB24 central nervous system,brain,glioma,NS c.1886C>T p.P629L 6
45 COSM39508 ZBTB21 central nervous system,brain,glioma,NS c.997G>A p.G333S 6
46 COSM40776 ZBTB16 central nervous system,brain,glioma,NS c.413C>T p.A138V 6
47 COSM41039 YWHAH central nervous system,brain,glioma,NS c.169C>T p.R57* 6
48 COSM40774 YTHDC2 central nervous system,brain,glioma,NS c.782C>T p.A261V 6
49 COSM39272 XPO7 central nervous system,brain,glioma,NS c.1157G>A p.R386Q 6
50 COSM40772 XPO1 central nervous system,brain,glioma,NS c.1147G>A p.E383K 6

Copy number variations for Meningioma, Familial from CNVD:

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

Expression for Meningioma, Familial

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

Pathways for Meningioma, Familial

GO Terms for Meningioma, Familial

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 microvillus GO:0005902 9.61 EZR MSN RDX
2 cell periphery GO:0071944 9.58 EZR MSN RDX
3 ruffle GO:0001726 9.56 EZR NF2 RDX S100B
4 SWI/SNF complex GO:0016514 9.52 SMARCB1 SMARCE1
5 BAF-type complex GO:0090544 9.51 SMARCB1 SMARCE1
6 nBAF complex GO:0071565 9.49 SMARCB1 SMARCE1
7 npBAF complex GO:0071564 9.48 SMARCB1 SMARCE1
8 uropod GO:0001931 9.46 EZR MSN
9 apical part of cell GO:0045177 9.46 EZR MSN NF2 RDX
10 cell tip GO:0051286 9.32 EZR RDX
11 filopodium GO:0030175 9.26 EZR MSN NF2 RDX
12 extrinsic component of membrane GO:0019898 9.02 EPB41L3 EZR MSN NF2 RDX
13 cytoplasm GO:0005737 10.24 EPB41L3 ESR1 EZR GFAP MKI67 MSN

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.85 EZR MSN PDGFB PTEN RDX VIM
2 chromatin remodeling GO:0006338 9.73 ESR1 SMARCB1 SMARCE1
3 regulation of cell shape GO:0008360 9.65 EPB41L3 EZR MSN RDX S100B
4 regulation of cell size GO:0008361 9.61 EZR MSN RDX
5 establishment of endothelial barrier GO:0061028 9.58 EZR MSN RDX
6 cytoskeletal anchoring at plasma membrane GO:0007016 9.55 EPB41L3 EZR
7 protein kinase A signaling GO:0010737 9.54 EZR RDX
8 negative regulation of cell size GO:0045792 9.52 PTEN RDX
9 gland morphogenesis GO:0022612 9.51 EZR MSN
10 positive regulation of cellular protein catabolic process GO:1903364 9.5 EZR MSN RDX
11 establishment of epithelial cell apical/basal polarity GO:0045198 9.49 EZR MSN
12 membrane to membrane docking GO:0022614 9.48 EZR MSN
13 paracrine signaling GO:0038001 9.46 PDGFB PGR
14 positive regulation of early endosome to late endosome transport GO:2000643 9.33 EZR MSN RDX
15 regulation of organelle assembly GO:1902115 9.13 EZR MSN RDX
16 positive regulation of protein localization to early endosome GO:1902966 8.8 EZR MSN RDX

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

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

Sources for Meningioma, Familial

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