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MNGMA
MCID: MNN043
MIFTS: 74

Meningioma, Familial (MNGMA)

Categories: Cancer diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Meningioma, Familial

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MalaCards integrated aliases for Meningioma, Familial:

Name: Meningioma, Familial 56 29 6 43
Meningioma 56 12 74 52 73 15 71
Familial Meningioma 12 73 15 71
Intracranial Meningioma 12 54 71
Meningeal Neoplasms 6 43 71
Meningioma, Familial, Susceptibility to 56 39
Supratentorial Meningioma 12 71
Meningeal Neoplasm 12 17
Meningioma, Benign, No Icd-O Subtype 71
Meningioma, Nf2-Related, Somatic 56
Familial Multiple Meningioma 58
Meningothelial Cell Neoplasm 71
Meningothelial Cell Tumor 12
Neoplasm of the Meninges 12
Meningioma, Sis-Related 56
Primary Meningeal Tumor 12
Meningiomas 15
Mngma 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

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


External Ids:

Disease Ontology 12 DOID:3565 DOID:4586
OMIM 56 607174
ICD10 32 D32.9
ICD10 via Orphanet 33 D32.9
Orphanet 58 ORPHA263662
SNOMED-CT via HPO 68 263681008
UMLS 71 C0025284 C0025286 C0349604 more
Sources

Summaries for Meningioma, Familial

About this section
NIH Rare Diseases : 52 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 .

MalaCards based summary : Meningioma, Familial, also known as meningioma, is related to rhabdoid meningioma and intraorbital 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 Pathways in cancer and Glioma. The drugs Methotrexate and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and pituitary, and related phenotypes are meningioma and Increased cell death HMECs cells

OMIM : 56 Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare (Zang, 2001). Familial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis (162091), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2; 613028) associated with a mutation in the PTEN gene (601728) developed a meningioma (Staal et al., 2002). (607174)

UniProtKB/Swiss-Prot : 73 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 : 74 Meningioma, also known as meningeal tumor, is typically a slow-growing tumor that forms from the... more...

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Related Diseases for Meningioma, Familial

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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 1176)
# Related Disease Score Top Affiliating Genes
1 rhabdoid meningioma 35.0 TRAF7 SMARCB1 NF2 BAP1
2 intraorbital meningioma 35.0 NF2 DCAF1
3 optic nerve sheath meningioma 34.9 SMARCB1 NF2
4 benign meningioma 34.9 TRAF7 SMARCE1 PGR NF2 MKI67
5 transitional meningioma 34.9 TRAF7 SMARCE1 PGR NF2
6 meningothelial meningioma 34.9 TRAF7 SMARCE1 PGR NF2
7 clear cell meningioma 34.9 TRAF7 SUFU SMARCE1 SMARCB1 PGR NF2
8 olfactory groove meningioma 34.8 TRAF7 SMARCE1 NF2
9 skull base meningioma 34.8 TRAF7 PGR NF2
10 angiomatous meningioma 34.8 TRAF7 SMARCE1 BAP1
11 lung meningioma 34.8 PGR NF2
12 anterior cranial fossa meningioma 34.8 TRAF7 SMARCB1 NF2
13 cerebral falx meningioma 34.6 SMARCB1 NF2
14 psammomatous meningioma 34.6 TRAF7 NF2
15 intraventricular meningioma 34.6 TRAF7 NF2
16 pediatric meningioma 34.6 TRAF7 NF2
17 spinal canal and spinal cord meningioma 34.5 TRAF7 SMARCE1 SMARCB1 PGR NF2 NF1
18 basal cell nevus syndrome 33.7 SUFU SMARCB1 PTCH1 NF1
19 schwannomatosis 1 33.4 SMARCB1 NF2
20 neurilemmoma 32.5 SMARCB1 NF2 NF1
21 glioma 32.4 PTEN PDGFB NF1 EGFR
22 glioblastoma multiforme 32.2 PTEN PDGFB NF2 NF1 ESR1 EGFR
23 medulloblastoma 32.1 SUFU SMARCB1 PTEN PTCH1 PDGFB NF1
24 acoustic neuroma 32.1 SMARCB1 NF2 NF1
25 monosomy 22 32.0 SMARCB1 NF2
26 neurofibroma 32.0 PTEN NF2 NF1 EGFR
27 benign ependymoma 32.0 NF2 NF1 EGFR
28 hemangioma 31.9 PTEN PGR PDGFB PDCD10
29 brain cancer 31.9 SMARCB1 PTEN PTCH1 PDGFB NF2 NF1
30 tinea capitis 31.9 PTCH1 ELOA3B ELOA3 ELOA2
31 neuroma 31.8 SMARCB1 NF2 NF1
32 craniopharyngioma 31.7 SUFU PTCH1 NF1 MKI67
33 oligodendroglioma 31.7 PTEN PDGFB NF1 EGFR
34 basal cell carcinoma 31.5 SUFU PTEN PTCH1 MKI67 EGFR BAP1
35 spinal meningioma 31.5 TRAF7 SMARCE1 SMARCB1 PGR NF2 NF1
36 chordoma 31.5 SMARCB1 PTEN EGFR
37 meningioma, radiation-induced 31.4 SUFU SMARCB1 PGR PDGFB NF2 MN1
38 mammary paget's disease 31.4 PGR ESR1 EGFR
39 neurofibromatosis, type iv, of riccardi 31.4 SMARCB1 PTEN NF2 NF1 DCAF1
40 leiomyosarcoma 31.2 PGR NF1 ESR1
41 cowden syndrome 31.2 PTEN NF2 NF1 EGFR
42 spinal canal intradural extramedullary neoplasm 31.1 NF2 DCAF1
43 lymphangioleiomyomatosis 31.1 PGR ESR1 EGFR
44 li-fraumeni syndrome 31.0 SUFU PTEN PTCH1 NF1 ESR1 EGFR
45 nervous system cancer 31.0 PTEN NF2 NF1 EGFR
46 carcinosarcoma 31.0 PTEN PGR EGFR
47 giant cell glioblastoma 31.0 PTEN NF1 EGFR
48 neurilemmoma of the fifth cranial nerve 31.0 NF2 NF1
49 soft tissue sarcoma 31.0 MKI67 EGFR
50 leiomyoma 31.0 PTCH1 PGR MKI67 ESR1

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:

31
# Description HPO Frequency HPO Source Accession
1 meningioma 31 HP:0002858

Symptoms via clinical synopsis from OMIM:

56
Neoplasia:
meningioma

Clinical features from OMIM:

607174

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 Increased cell death HMECs cells GR00103-A-0 9.1 BAP1 EGFR PDCD10 PDGFB PGR PTEN
2 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 PTEN

MGI Mouse Phenotypes related to Meningioma, Familial:

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.37 BAP1 EGFR ESR1 MN1 NF1 NF2
2 mortality/aging MP:0010768 10.37 BAP1 DCAF1 EGFR ESR1 MN1 NF1
3 embryo MP:0005380 10.36 BAP1 EGFR ESR1 NF1 NF2 PDCD10
4 immune system MP:0005387 10.36 BAP1 EGFR ESR1 NF1 NF2 PDCD10
5 growth/size/body region MP:0005378 10.35 BAP1 EGFR ESR1 MN1 NF1 NF2
6 cardiovascular system MP:0005385 10.34 BAP1 EGFR ESR1 NF1 PDCD10 PDGFB
7 hematopoietic system MP:0005397 10.31 BAP1 EGFR ESR1 NF1 PDCD10 PDGFB
8 integument MP:0010771 10.31 BAP1 EGFR ESR1 NF1 NF2 PDCD10
9 digestive/alimentary MP:0005381 10.24 BAP1 EGFR ESR1 MN1 NF1 PTCH1
10 neoplasm MP:0002006 10.23 BAP1 EGFR ESR1 MN1 NF1 NF2
11 muscle MP:0005369 10.18 BAP1 EGFR ESR1 NF1 PDCD10 PDGFB
12 liver/biliary system MP:0005370 10.11 EGFR ESR1 NF1 NF2 PDGFB PTEN
13 limbs/digits/tail MP:0005371 10.07 EGFR ESR1 NF1 PGR PTCH1 PTEN
14 normal MP:0002873 10.06 EGFR ESR1 MKI67 NF1 PDCD10 PGR
15 no phenotypic analysis MP:0003012 10.03 BAP1 EGFR ESR1 MKI67 PDGFB PGR
16 reproductive system MP:0005389 9.96 BAP1 EGFR ESR1 NF1 NF2 PDGFB
17 renal/urinary system MP:0005367 9.92 EGFR ESR1 NF1 NF2 PDCD10 PDGFB
18 pigmentation MP:0001186 9.85 EGFR NF1 PDGFB PTCH1 PTEN SUFU
19 respiratory system MP:0005388 9.85 BAP1 EGFR ESR1 MN1 NF1 NF2
20 skeleton MP:0005390 9.61 EGFR ESR1 MN1 NF1 NF2 PGR
21 vision/eye MP:0005391 9.28 EGFR NF1 NF2 PDCD10 PDGFB PTCH1
Sources

Drugs & Therapeutics for Meningioma, Familial

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

(show top 50) (show all 265)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
2
leucovorin Approved Phase 4 58-05-9 6006 143
3
Cytarabine Approved, Experimental, Investigational Phase 4 147-94-4, 65-46-3 6253
4
Thrombin Approved, Investigational Phase 4
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
6 Folic Acid Antagonists Phase 4
7 Folate Phase 4
8 Vitamin B9 Phase 4
9 Vitamin B Complex Phase 4
10 Fibrin Tissue Adhesive Phase 4
11 Hemostatics Phase 4
12 Coagulants Phase 4
13
Tranexamic Acid Approved Phase 3 1197-18-8 5526
14
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
15
Donepezil Approved Phase 3 120014-06-4 3152
16
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
17
Ondansetron Approved Phase 3 99614-02-5 4595
18
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
19
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
20
Cisatracurium Approved Phase 3 96946-41-7
21
Sevoflurane Approved, Vet_approved Phase 3 28523-86-6 5206
22
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
23
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
24
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
25
Methylphenidate Approved, Investigational Phase 3 113-45-1 4158
26
Histamine Approved, Investigational Phase 3 51-45-6 774
27
Cyproheptadine Approved Phase 3 129-03-3 2913
28
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
29 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
30 Antifibrinolytic Agents Phase 3
31 Progestins Phase 3
32 Nootropic Agents Phase 3
33 Cholinergic Agents Phase 3
34 Cholinesterase Inhibitors Phase 3
35 Liver Extracts Phase 3
36 Cola Phase 3
37 Emetics Phase 3
38 Narcotics Phase 3
39 Anesthetics, General Phase 3
40 Analgesics, Opioid Phase 3
41 Adjuvants, Anesthesia Phase 3
42 Anesthetics, Intravenous Phase 3
43 Anesthetics Phase 3
44 Central Nervous System Depressants Phase 3
45 Anti-Arrhythmia Agents Phase 3
46 Calcium, Dietary Phase 3
47 calcium channel blockers Phase 3
48 Antihypertensive Agents Phase 3
49 Analgesics Phase 3
50 Tocolytic Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 225)
# 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 PHASE 3 STUDY OF EFFICACY OF TRANEXAMIC ACID IN BRAIN TUMORS RESECTIONS Unknown status NCT01655927 Phase 3 Tranexamic Acid;Placebo: Saline
6 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
7 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
8 Double Blind Randomized Trial of the Anti-Progestational Agent Mifepristone In The Treatment of Unresectable Meningioma Completed NCT03015701 Phase 3 Mifepristone
9 Phase III Double Blind, Placebo Controlled Study of Donepezil in the Irradiated Brain Completed NCT00369785 Phase 3 donepezil hydrochloride;Placebo
10 Randomized Controlled Trial of Acupressure to Control Chemotherapy-Induced Nausea (CIN) in Children Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
11 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
12 Phase III Trial of Observation Versus Irradiation for a Gross Totally Resected Grade II Meningioma Recruiting NCT03180268 Phase 3
13 The Effect of Magnesium Sulphate on Intraoperative Blood Loss in Meningioma Patient Undergoing Craniotomy With Tumor Removal Not yet recruiting NCT03558516 Phase 3 Magnesium group;Normal saline group
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 A Phase III, Double-Blind, Prospective Randomized Clinical Trial of the Effect of D-threo-methylphenidate HCl (d-MPH) on Quality of Life in Brain Tumor Patients Receiving Radiation Therapy Terminated NCT00031798 Phase 3 methylphenidate hydrochloride
16 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
17 Combination of Everolimus and Octreotide LAR in Aggressive Recurrent Meningiomas. Unknown status NCT02333565 Phase 2 Everolimus;Octreotide
18 IMATINIB Plus Hydroxyurea in the Treatment of Recurrent or Progressive Meningiomas: a Randomized Phase II Study Unknown status NCT00904735 Phase 2 hydroxyurea;imatinib mesylate
19 Phase II Trial of Observation for Low-Risk Meningiomas and of Radiotherapy for Intermediate- and High-Risk Meningiomas Unknown status NCT00895622 Phase 2
20 Feasibility and Phase II Study Using Proton Radiation For WHO Grade I-III Meningiomas and Hemangiopericytomas Unknown status NCT01117844 Phase 1, Phase 2
21 Phase II Study of Hydroxyurea for the Treatment of Recurrent and/or Nonoperable Meningioma Unknown status NCT00006119 Phase 2 hydroxyurea
22 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
23 Proton Radiation for Low Grade Gliomas Unknown status NCT01024907 Phase 1, Phase 2
24 Phase II Study of Monthly SOM230C for Recurrent or Progressive Meningioma Completed NCT00859040 Phase 2 SOM230C
25 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
26 A Phase II Trial of PTK-787 in Recurrent or Progressive Meningiomas Completed NCT00348790 Phase 2 vatalanib
27 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
28 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
29 Combination of Hydroxyurea and Verapamil for Refractory Meningiomas Completed NCT00706810 Phase 2 Hydroxyurea;Verapamil
30 Trabectedin for Recurrent Grade II or III Meningioma: a Randomized Phase II Study of the EORTC Brain Tumor Group Completed NCT02234050 Phase 2 Trabectedin
31 Phase II Study of Hydroxyurea for Unresectable Meningioma Completed NCT00003590 Phase 2 hydroxyurea
32 Pembrolizumab in Patients With Leptomeningeal Disease Completed NCT03091478 Phase 2 Pembrolizumab
33 Adjuvant Postoperative High-Dose Radiotherapy for Atypical and Malignant Meningioma: a Phase-II and Observation Study Completed NCT00626730 Phase 2
34 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
35 Phase II Trial of STI571 (NSC 716051) in Patients With Recurrent Meningioma Completed NCT00045734 Phase 2 imatinib mesylate
36 A Feasibility Study of Armodafinil for Brain Radiation-Induced Fatigue Completed NCT01032200 Phase 2 Armodafinil
37 Phase I/II Trial of STI571 (NSC 716051) in Patients With Recurrent Malignant Gliomas Completed NCT00010049 Phase 1, Phase 2 imatinib mesylate
38 Levetiracetam and Pregabalin for Monotherapy in Patients With Brain Tumors and Seizures. A Phase II Randomized Study. Completed NCT00629889 Phase 2 levetiracetam;pregabalin
39 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
40 A Randomized Phase II Trial of Bevacizumab to Control Brain Radiation Damage Completed NCT00492089 Phase 2 bevacizumab;placebo
41 A Phase II Trial of Rebeccamycin Analogue (NSC #655649) in Children With Solid Tumors Completed NCT00006102 Phase 2 becatecarin
42 Phase II Treatment of Children With Newly Diagnosed Malignant Central Nervous System Tumors With Temozolomide Prior to Radiation Therapy Completed NCT00005955 Phase 2 temozolomide
43 Recombinant Human Endostatin Injection Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors by Continuous Intravenous Pumping Completed NCT02104323 Phase 2 Endostatin
44 Donepezil and EGb761 in Improving Neurocognitive Function in Patients Who Have Previously Undergone Radiation Therapy for Primary Brain Tumor or Brain Metastases Completed NCT00070161 Phase 2 donepezil hydrochloride
45 A Phase I/II Trial of SU5416 in Patients With Recurrent High Grade Astrocytomas or Mixed Gliomas Completed NCT00004868 Phase 1, Phase 2 semaxanib
46 Phase I Study of At-Labeled Anti-Tenascin Human/Mouse Chimeric Monoclonal Antibody 81C6 (ch81C6) Via Surgically Created Cystic Resection Cavity in the Treatment of Patients With Primary or Metastatic Brain Tumors Completed NCT00003461 Phase 1, Phase 2
47 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
48 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
49 Phase II Trial Of High Dose Cyclophosphamide, Cisplatin And Carmustine With Stem Cell Reconstitution Followed By Specific Cellular Therapy In Patients With Recurrent Or Refractory Brain Tumors Completed NCT00014573 Phase 2 carmustine;cisplatin;cyclophosphamide;paclitaxel
50 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib

Search NIH Clinical Center for Meningioma, Familial

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


Cytarabine
Cytarabine liposome
Mifepristone

Cochrane evidence based reviews: meningeal neoplasms

Sources

Genetic Tests for Meningioma, Familial

About this section

Genetic tests related to Meningioma, Familial:

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

Anatomical Context for Meningioma, Familial

About this section

MalaCards organs/tissues related to Meningioma, Familial:

40
Brain, Spinal Cord, Pituitary, Breast, Bone, Lung, Thyroid
Sources

Publications for Meningioma, Familial

About this section

Articles related to Meningioma, Familial:

(show top 50) (show all 14036)
# Title Authors PMID Year
1
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. 61 56 6
23377182 2013
2
Loss of SUFU function in familial multiple meningioma. 61 56 6
22958902 2012
3
Common variation at 10p12.31 near MLLT10 influences meningioma risk. 61 56
21804547 2011
4
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. 61 56
20930055 2011
5
A novel germline mutation of PTEN associated with brain tumours of multiple lineages. 61 56
12085208 2002
6
Meningioma: a cytogenetic model of a complex benign human tumor, including data on 394 karyotyped cases. 61 56
11528114 2001
7
Familial meningioma: analysis of expression of neurofibromatosis 2 protein Merlin. Report of two cases. 61 56
9488313 1998
8
Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. 61 56
7717450 1995
9
Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma. 61 56
7731706 1995
10
Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene. 61 56
7987321 1994
11
Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas. 61 56
8162072 1994
12
Familial meningioma is not allelic to neurofibromatosis 2. 61 56
8413972 1993
13
Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus. 61 56
8401504 1993
14
Familial CNS tumors. 61 56
1512611 1992
15
Loss of heterozygosity for chromosome 22 DNA sequences in human meningioma. 61 56
1676608 1991
16
A t(4;22) in a meningioma points to the localization of a putative tumor-suppressor gene. 61 56
2014801 1991
17
Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting. 61 56
2220822 1990
18
Parental origin of chromosome 22 alleles lost in meningioma. 61 56
1977313 1990
19
Deletion of Alu sequences in the fifth c-sis intron in individuals with meningiomas. 61 56
2212004 1990
20
Molecular genetic analysis of chromosome 22 in 81 cases of meningioma. 61 56
2393856 1990
21
Familial meningioma. 61 56
2300254 1990
22
Loss of genes on the long arm of chromosome 22 in human meningiomas. 61 56
2897611 1988
23
Loss of heterozygosity and the origin of meningioma. 61 56
2891603 1987
24
Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma. 61 56
2892198 1987
25
Molecular genetic approach to human meningioma: loss of genes on chromosome 22. 61 56
3037550 1987
26
Familial meningiomas. Report of two cases. 61 56
3329680 1987
27
Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma. 61 56
3969118 1985
28
[Meningioma and acoustic neurinoma occurring in two siblings of two different families]. 61 56
6518127 1984
29
Cytological and cytogenetical studies on human meningioma. 61 56
6288229 1982
30
Familial occurrence of meningioma: a case report. 61 56
6926386 1981
31
Cranial and spinal meningiomas in a pair of identical twin boys. 61 56
4714099 1973
32
Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. 56
23334667 2013
33
Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. 56
22038540 2012
34
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. 56
19582488 2010
35
Multiple meningiomas in brain and lung due to acquired mutation of the NF2 gene. 56
15159511 2004
36
INI1 mutations in meningiomas at a potential hotspot in exon 9. 56
11161377 2001
37
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. 56
7731705 1995
38
Cytogenetic, molecular genetic and pathological analyses in 126 meningiomas. 56
7876890 1995
39
Multiple meningiomas in a patient with constitutional ring chromosome 22. 56
8213904 1993
40
Cancer. A gene for neurofibromatosis 2. 56
8505975 1993
41
Molecular genetics of neurological tumours. 56
1320124 1992
42
Cytogenetic studies in 50 meningiomas. 56
3162394 1988
43
Recessive cancer genes in meningiomas? An analysis of 31 cases. 56
3472644 1987
44
Multifocal meningiomas in a patient with a constitutional ring chromosome 22. 56
3712397 1986
45
Multiple and familial meningiomas without evidence of neurofibromatosis. 56
6782502 1980
46
Meningiomas in five members of a family over two generations, in one member simultaneously with acoustic neurinomas. 56
418361 1978
47
Phenotypic correlations in patients with ring chromosome 22. 56
912941 1977
48
Chromosomal consitution of meningiomas. 56
6050684 1967
49
Familial occurrence of meningiomas. Case report. 56
5852402 1965
50
FAMILIAL MENINGIOMAS. 56
14285655 1965
Sources

Variations for Meningioma, Familial

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ClinVar genetic disease variations for Meningioma, Familial:

6 (show top 50) (show all 127) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTEN NM_000314.7(PTEN):c.517C>T (p.Arg173Cys)SNV Pathogenic 189500 rs121913293 10:89711899-89711899 10:87952142-87952142
2 SMARCE1 NM_003079.5(SMARCE1):c.624_627del (p.Ser208fs)deletion Pathogenic 212264 rs797045990 17:38788534-38788537 17:40632282-40632285
3 PTEN NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter)SNV Pathogenic 7833 rs121909231 10:89720852-89720852 10:87961095-87961095
4 SMARCE1 NM_003079.5(SMARCE1):c.525del (p.Ala176fs)deletion Pathogenic 239495 rs878854603 17:38792199-38792199 17:40635947-40635947
5 SMARCE1 NM_003079.5(SMARCE1):c.313C>T (p.Arg105Ter)SNV Pathogenic 407072 rs1060501395 17:38792703-38792703 17:40636451-40636451
6 SMARCE1 NM_003079.5(SMARCE1):c.757C>T (p.Gln253Ter)SNV Pathogenic 463432 rs1555605347 17:38787903-38787903 17:40631651-40631651
7 SMARCE1 NM_003079.5(SMARCE1):c.454_455delinsT (p.Ala152fs)indel Pathogenic 532251 rs1555605750 17:38792269-38792270 17:40636017-40636018
8 PTEN NM_000314.7(PTEN):c.253+2T>ASNV Pathogenic/Likely pathogenic 468676 rs1224040268 10:89690848-89690848 10:87931091-87931091
9 PTEN NM_000314.7(PTEN):c.860C>G (p.Ser287Ter)SNV Pathogenic/Likely pathogenic 216987 rs863224909 10:89720709-89720709 10:87960952-87960952
10 SMARCE1 NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter)SNV risk factor 55832 rs397509405 17:38787945-38787945 17:40631693-40631693
11 SMARCE1 NM_003079.5(SMARCE1):c.237+2T>CSNV risk factor 55833 rs397509406 17:38793742-38793742 17:40637490-40637490
12 SMARCE1 NM_003079.5(SMARCE1):c.311G>A (p.Trp104Ter)SNV risk factor 55834 rs397509407 17:38792705-38792705 17:40636453-40636453
13 SMARCE1 NM_003079.5(SMARCE1):c.572dup (p.Ala192fs)duplication risk factor 55835 rs397509408 17:38788588-38788589 17:40632336-40632337
14 SMARCE1 NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys)SNV Likely pathogenic 30316 rs387906857 17:38793763-38793763 17:40637511-40637511
15 SUFU NM_016169.3(SUFU):c.367C>T (p.Arg123Cys)SNV risk factor 37215 rs202247756 10:104309776-104309776 10:102550019-102550019
16 PTEN NM_000314.7(PTEN):c.404T>A (p.Ile135Lys)SNV Likely pathogenic 428235 rs370795352 10:89692920-89692920 10:87933163-87933163
17 SMARCE1 NM_003079.5(SMARCE1):c.541+1G>ASNV Likely pathogenic 641297 17:38792182-38792182 17:40635930-40635930
18 SMARCE1 NM_003079.5(SMARCE1):c.1233A>G (p.Glu411=)SNV Uncertain significance 532237 rs1555605056 17:38785040-38785040 17:40628788-40628788
19 SMARCE1 NM_003079.5(SMARCE1):c.1090_1092del (p.Pro364del)deletion Uncertain significance 532248 rs1555605093 17:38785181-38785183 17:40628929-40628931
20 SMARCE1 NM_003079.5(SMARCE1):c.1055A>G (p.Glu352Gly)SNV Uncertain significance 532242 rs1198138077 17:38785218-38785218 17:40628966-40628966
21 SMARCE1 NM_003079.5(SMARCE1):c.932C>T (p.Ala311Val)SNV Uncertain significance 532236 rs768536854 17:38787061-38787061 17:40630809-40630809
22 SMARCE1 NM_003079.5(SMARCE1):c.767A>C (p.Lys256Thr)SNV Uncertain significance 532245 rs542193901 17:38787893-38787893 17:40631641-40631641
23 SMARCE1 NM_003079.5(SMARCE1):c.971A>T (p.Gln324Leu)SNV Uncertain significance 532244 rs1555605231 17:38787022-38787022 17:40630770-40630770
24 SMARCE1 NM_003079.5(SMARCE1):c.487C>T (p.Arg163Cys)SNV Uncertain significance 532250 rs190432371 17:38792237-38792237 17:40635985-40635985
25 SMARCE1 NM_003079.5(SMARCE1):c.369G>A (p.Lys123=)SNV Uncertain significance 532241 rs746320191 17:38792647-38792647 17:40636395-40636395
26 NF2 NM_016418.5(NF2):c.1232G>A (p.Arg411His)SNV Uncertain significance 527695 rs201214090 22:30069367-30069367 22:29673378-29673378
27 SMARCE1 NM_003079.5(SMARCE1):c.1222G>A (p.Glu408Lys)SNV Uncertain significance 573127 rs1487515718 17:38785051-38785051 17:40628799-40628799
28 SMARCE1 NM_003079.5(SMARCE1):c.1164C>T (p.Gly388=)SNV Uncertain significance 578097 rs573977743 17:38785109-38785109 17:40628857-40628857
29 SMARCE1 NM_003079.5(SMARCE1):c.1064A>G (p.Gln355Arg)SNV Uncertain significance 573473 rs1567844710 17:38785209-38785209 17:40628957-40628957
30 SMARCE1 NM_003079.5(SMARCE1):c.601C>T (p.Arg201Cys)SNV Uncertain significance 578387 rs1567845807 17:38788560-38788560 17:40632308-40632308
31 SMARCE1 NM_003079.5(SMARCE1):c.28C>T (p.Pro10Ser)SNV Uncertain significance 580523 rs1413469817 17:38801851-38801851 17:40645599-40645599
32 SMARCE1 NM_003079.5(SMARCE1):c.1129A>G (p.Met377Val)SNV Uncertain significance 565919 rs781353760 17:38785144-38785144 17:40628892-40628892
33 SMARCE1 NM_003079.5(SMARCE1):c.988G>A (p.Glu330Lys)SNV Uncertain significance 567118 rs755389218 17:38787005-38787005 17:40630753-40630753
34 NF2 NM_016418.5(NF2):c.215T>C (p.Val72Ala)SNV Uncertain significance 569354 rs1260510937 22:30032840-30032840 22:29636851-29636851
35 NF2 NM_016418.5(NF2):c.1619A>G (p.Asn540Ser)SNV Uncertain significance 565467 rs774824164 22:30077472-30077472 22:29681483-29681483
36 SMARCE1 NM_003079.5(SMARCE1):c.947G>A (p.Ser316Asn)SNV Uncertain significance 580206 rs1307734637 17:38787046-38787046 17:40630794-40630794
37 NF2 NM_016418.5(NF2):c.4G>T (p.Ala2Ser)SNV Uncertain significance 638486 22:29999991-29999991 22:29604002-29604002
38 SMARCE1 NM_003079.5(SMARCE1):c.1231G>A (p.Glu411Lys)SNV Uncertain significance 643758 17:38785042-38785042 17:40628790-40628790
39 SMARCE1 NM_003079.5(SMARCE1):c.1213C>G (p.Pro405Ala)SNV Uncertain significance 654067 17:38785060-38785060 17:40628808-40628808
40 SMARCE1 NM_003079.5(SMARCE1):c.1180G>A (p.Ala394Thr)SNV Uncertain significance 647309 17:38785093-38785093 17:40628841-40628841
41 SMARCE1 NM_003079.5(SMARCE1):c.1155T>G (p.Ser385Arg)SNV Uncertain significance 662686 17:38785118-38785118 17:40628866-40628866
42 SMARCE1 NM_003079.5(SMARCE1):c.1144A>G (p.Thr382Ala)SNV Uncertain significance 665300 17:38785129-38785129 17:40628877-40628877
43 SMARCE1 NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn)SNV Uncertain significance 641673 17:38785150-38785150 17:40628898-40628898
44 SMARCE1 NM_003079.5(SMARCE1):c.1039C>G (p.Leu347Val)SNV Uncertain significance 662806 17:38785234-38785234 17:40628982-40628982
45 SMARCE1 NM_003079.5(SMARCE1):c.1038C>G (p.His346Gln)SNV Uncertain significance 650822 17:38785235-38785235 17:40628983-40628983
46 SMARCE1 NM_003079.5(SMARCE1):c.1034C>G (p.Thr345Arg)SNV Uncertain significance 662138 17:38785239-38785239 17:40628987-40628987
47 SMARCE1 NM_003079.5(SMARCE1):c.1033A>C (p.Thr345Pro)SNV Uncertain significance 661588 17:38785240-38785240 17:40628988-40628988
48 SMARCE1 NM_003079.5(SMARCE1):c.1008G>C (p.Glu336Asp)SNV Uncertain significance 653913 17:38786985-38786985 17:40630733-40630733
49 SMARCE1 NM_003079.5(SMARCE1):c.956T>C (p.Val319Ala)SNV Uncertain significance 650600 17:38787037-38787037 17:40630785-40630785
50 SMARCE1 NM_003079.5(SMARCE1):c.943C>G (p.Gln315Glu)SNV Uncertain significance 662402 17:38787050-38787050 17:40630798-40630798

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 18
2 COSM84674285 SMO meninges,NS,meningioma,meningothelial c.1604G>T p.W535L 7:129210500-129210500 18
3 COSM130247104 NTRK1 meninges,NS,meningioma,atypical c.1404C>A p.F468L 1:156875569-156875569 18
4 COSM89039211 NF2 meninges,NS,meningioma,meningothelial c.517-1G>A p.? 22:29655593-29655593 18
5 COSM89035345 NF2 meninges,NS,meningioma,meningothelial c.1264G>T p.E422* 22:29673410-29673410 18
6 COSM89036688 NF2 meninges,NS,meningioma,atypical c.634C>T p.Q212* 22:29658223-29658223 18
7 COSM89035309 NF2 meninges,NS,meningioma,meningothelial c.1198C>T p.Q400* 22:29673344-29673344 18
8 COSM89035164 NF2 meninges,NS,meningioma,meningothelial c.1341-1G>A p.? 22:29674835-29674835 18
9 COSM89033278 NF2 meninges,NS,meningioma,meningothelial c.784C>T p.R262* 22:29661313-29661313 18
10 COSM89039219 NF2 meninges,NS,meningioma,meningothelial c.241-2A>C p.? 22:29639088-29639088 18
11 COSM89037190 NF2 meninges,NS,meningioma,meningothelial c.552G>A p.W184* 22:29655629-29655629 18
12 COSM89033715 NF2 meninges,NS,meningioma,atypical c.447+1G>A p.? 22:29642286-29642286 18
13 COSM89033426 NF2 meninges,NS,meningioma,atypical c.1009C>T p.Q337* 22:29671835-29671835 18
14 COSM89033322 NF2 meninges,NS,meningioma,atypical c.592C>T p.R198* 22:29655669-29655669 18
15 COSM89033675 NF2 meninges,NS,meningioma,meningothelial c.955C>T p.Q319* 22:29668402-29668402 18
16 COSM89046786 NF2 meninges,NS,meningioma,atypical c.810+1G>A p.? 22:29661340-29661340 18
17 COSM89044388 NF2 meninges,NS,meningioma,meningothelial c.1341-2A>G p.? 22:29674834-29674834 18
18 COSM89045321 NF2 meninges,NS,meningioma,meningothelial c.551G>A p.W184* 22:29655628-29655628 18
19 COSM89035692 NF2 meninges,NS,meningioma,meningothelial c.364-1G>C p.? 22:29642201-29642201 18
20 COSM89042954 NF2 meninges,NS,meningioma,atypical c.114+1G>T p.? 22:29604113-29604113 18
21 COSM89033058 NF2 meninges,NS,meningioma,atypical c.169C>T p.R57* 22:29636805-29636805 18
22 COSM89036105 NF2 meninges,NS,meningioma,atypical c.115-1G>C p.? 22:29636750-29636750 18
23 COSM89034501 NF2 meninges,NS,meningioma,atypical c.586C>T p.R196* 22:29655663-29655663 18
24 COSM89047262 NF2 meninges,NS,meningioma,meningothelial c.600-3C>G p.? 22:29658186-29658186 18
25 COSM89034870 NF2 meninges,NS,meningioma,meningothelial c.1340+1G>A p.? 22:29673487-29673487 18
26 COSM97470056 DAXX meninges,NS,meningioma,atypical c.983G>C p.R328P 6:33320792-33320792 18
27 COSM84238225 CREBBP meninges,NS,meningioma,atypical c.4174C>T p.R1392* 16:3739684-3739684 18
28 COSM133535772 AKT1 meninges,NS,meningioma,meningothelial c.49G>A p.E17K 14:104780214-104780214 18
29 COSM89233576 meninges,NS,meningioma,meningothelial c.49G>A p.E17K 14:104780214-104780214 18
30 COSM94457312 meninges,NS,meningioma,meningothelial c.240+2212A>C p.? 22:29639088-29639088 18
31 COSM94454256 meninges,NS,meningioma,meningothelial c.1141G>T p.E381* 22:29673410-29673410 18
32 COSM95491089 meninges,NS,meningioma,atypical c.115-2285C>T p.? 22:29636805-29636805 18
33 COSM94455522 meninges,NS,meningioma,meningothelial c.511C>T p.Q171* 22:29658223-29658223 18
34 COSM94452265 meninges,NS,meningioma,atypical c.169C>T p.R57* 22:29636805-29636805 18
35 COSM102838922 meninges,NS,meningioma,meningothelial c.364-1G>C p.? 22:29642201-29642201 18
36 COSM105506877 meninges,NS,meningioma,meningothelial c.552G>A p.W184* 22:29655629-29655629 18
37 COSM92438040 meninges,NS,meningioma,atypical c.115-5452G>C p.? 22:29636750-29636750 18
38 COSM103842060 meninges,NS,meningioma,meningothelial c.49G>A p.E17K 14:104780214-104780214 18
39 COSM94452723 meninges,NS,meningioma,meningothelial c.832C>T p.Q278* 22:29668402-29668402 18
40 COSM95499482 meninges,NS,meningioma,atypical c.114+1G>T p.? 22:29604113-29604113 18
41 COSM93468563 meninges,NS,meningioma,atypical c.634C>T p.Q212* 22:29658223-29658223 18
42 COSM134535128 meninges,NS,meningioma,meningothelial c.49G>A p.E17K 14:104780214-104780214 18
43 COSM105109256 meninges,NS,meningioma,meningothelial c.448-19918A>G p.? 22:29674834-29674834 18
44 COSM102836959 meninges,NS,meningioma,atypical c.592C>T p.R198* 22:29655669-29655669 18
45 COSM102836723 meninges,NS,meningioma,atypical c.169C>T p.R57* 22:29636805-29636805 18
46 COSM102846282 meninges,NS,meningioma,meningothelial c.1341-2A>G p.? 22:29674834-29674834 18
47 COSM92443491 meninges,NS,meningioma,atypical c.114+1G>T p.? 22:29604113-29604113 18
48 COSM105584865 meninges,NS,meningioma,meningothelial c.49G>A p.E17K 14:104780214-104780214 18
49 COSM95496378 meninges,NS,meningioma,meningothelial c.115-2A>C p.? 22:29639088-29639088 18
50 COSM102648110 meninges,NS,meningioma,meningothelial c.1264G>T p.E422* 22:29673410-29673410 18
Sources

Expression for Meningioma, Familial

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

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

# Super pathways Score Top Affiliating Genes
1
Pathways in cancer 36
12.46 SUFU PTEN PTCH1 PDGFB ESR1 EGFR
2
Glioma 36
Show member pathways
 12.4 PTEN PDGFB NF1 ESR1 EGFR
3
Gastric cancer 36
Show member pathways
 12.3 SMARCE1 SMARCB1 PTEN PGR ESR1 EGFR
4
Integrated Breast Cancer Pathway 1
11.81 PTEN NF1 ESR1 EGFR
5
Androgen receptor signaling pathway 1
11.57 SMARCE1 PTEN EGFR
6
Aryl Hydrocarbon Receptor 1
11.23 NF1 ESR1 EGFR
7
Transcription Ligand-dependent activation of the ESR1/SP pathway 22
Show member pathways
 11.1 SMARCE1 SMARCB1 ESR1 EGFR
8
Glioblastoma Multiforme 63
11.07 PTEN PDGFB NF2 NF1 EGFR
Sources

GO Terms for Meningioma, Familial

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.1 SUFU SMARCE1 SMARCB1 PTEN PTCH1 PGR
2 nucleoplasm GO:0005654 9.7 SUFU SMARCE1 SMARCB1 PTEN PGR MKI67
3 nBAF complex GO:0071565 9.32 SMARCE1 SMARCB1
4 npBAF complex GO:0071564 9.16 SMARCE1 SMARCB1
5 elongin complex GO:0070449 8.8 ELOA3B ELOA3 ELOA2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.83 PGR PDGFB PDCD10 ESR1
2 regulation of cell proliferation GO:0042127 9.71 PTCH1 NF2 NF1 EGFR
3 regulation of transcription by RNA polymerase II GO:0006357 9.7 SMARCE1 SMARCB1 ESR1 ELOA3B ELOA3 ELOA2
4 negative regulation of DNA-binding transcription factor activity GO:0043433 9.63 SUFU PTCH1 ESR1
5 positive regulation of MAP kinase activity GO:0043406 9.54 PDGFB PDCD10 EGFR
6 regulation of synaptic transmission, GABAergic GO:0032228 9.51 PTEN NF1
7 response to inorganic substance GO:0010035 9.49 PTEN BAP1
8 negative regulation of protein import into nucleus GO:0042308 9.48 SUFU NF1
9 forebrain morphogenesis GO:0048853 9.43 PTEN NF1
10 positive regulation of fibroblast proliferation GO:0048146 9.43 PDGFB ESR1 EGFR
11 paracrine signaling GO:0038001 9.32 PGR PDGFB
12 response to estradiol GO:0032355 9.26 PTEN PTCH1 ESR1 EGFR
13 negative regulation of cell proliferation GO:0008285 9.1 SMARCB1 PTEN PTCH1 NF2 NF1 BAP1

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.35 SUFU PTEN PDCD10 ESR1 EGFR
2 platelet-derived growth factor receptor binding GO:0005161 9.16 PTEN PDGFB
3 nitric-oxide synthase regulator activity GO:0030235 8.62 ESR1 EGFR
Sources

Sources for Meningioma, Familial

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
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
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