MNGMA
MCID: MNN043
MIFTS: 70

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 76 53 75 37 29 13 55 6 15 73
Familial Meningioma 12 75 15 73
Intracranial Meningioma 12 55 73
Meningioma, Familial, Susceptibility to 57 40
Supratentorial Meningioma 12 73
Meningioma, Sis-Related 57 13
Meningeal Neoplasms 44 73
Meningioma, Benign, No Icd-O Subtype 73
Meningioma, Nf2-Related, Somatic 57
Familial Multiple Meningioma 59
Meningothelial Cell Neoplasm 73
Meningothelial Cell Tumor 12
Neoplasm of the Meninges 12
Primary Meningeal Tumor 12
Meningeal Neoplasm 12
Mngma 75

Characteristics:

Orphanet epidemiological data:

59
familial multiple meningioma
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607174
Disease Ontology 12 DOID:3565 DOID:4586
ICD10 33 D32.9 C70
Orphanet 59 ORPHA263662
ICD10 via Orphanet 34 D32.9
KEGG 37 H01556
SNOMED-CT via HPO 69 263681008

Summaries for Meningioma, Familial

NIH Rare Diseases : 53 Meningiomas are tumors that originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are not cancerous (benign), though a minority of meningiomas can be classified as atypical or cancerous (malignant). Though rare, malignant meningiomas can be highly aggressive. However, even benign meningiomas can cause problems if their growth affects neighboring areas of the brain. Though most meningiomas grow slowly, there is no way to predict the rate of growth for a particular meningioma or to know how long a specific meningioma was growing before it was diagnosed. Signs and symptoms can vary but may include seizures, headaches, weakness in the arms and legs, and vision loss. Sometimes memory loss, carelessness, and unsteadiness are the only symptoms. 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 spinal meningioma and lung 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 Endometrial cancer and Glioma. Affiliated tissues include brain, spinal cord and bone, and related phenotypes are meningioma and Increased cell death HMECs cells

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 618)
# Related Disease Score Top Affiliating Genes
1 spinal meningioma 34.4 NF2 PGR SMARCE1
2 lung meningioma 33.8 CD34 PGR
3 meningothelial meningioma 33.7 NF2 SMARCE1 SNRPB
4 olfactory groove meningioma 33.7 NF2 PGR TP53
5 clear cell meningioma 33.7 PGR SMARCE1 SNRPB
6 rhabdoid meningioma 33.7 NF2 SMARCB1
7 anterior cranial fossa meningioma 33.7 NF2 PGR TP53
8 meningioma, radiation-induced 33.6 EPB41L3 MKI67 MN1 NF2 PCNA PDGFB
9 benign meningioma 33.6 EPB41L3 MKI67 NF2 PCNA PGR SMARCE1
10 psammomatous meningioma 33.5 CD34 NF2
11 cerebral convexity meningioma 33.4 NF2 TP53
12 spinal canal and spinal cord meningioma 33.4 NF2 PGR SMARCE1
13 schwannomatosis 1 32.0 NF2 SMARCB1
14 endometriosis 30.7 ESR1 PGR PTEN
15 glioblastoma multiforme 30.6 AKT1 PDGFB PTEN TP53
16 medulloblastoma 30.5 AKT1 PDGFB PTEN SMARCB1 SUFU TP53
17 basal cell carcinoma 30.4 CD34 MKI67 PTEN SUFU TP53
18 oligodendroglioma 30.4 PCNA PDGFB PTEN TP53
19 grade iii astrocytoma 30.3 PCNA PTEN TP53
20 monosomy 22 30.1 NF2 SMARCB1
21 suppression of tumorigenicity 12 30.1 AKT1 PTEN TP53
22 wilms tumor 1 30.0 ESR1 PGR SMARCB1 TP53
23 supratentorial cancer 29.9 AKT1 PTEN TP53
24 breast adenocarcinoma 29.9 AKT1 ESR1 PTEN TP53
25 spinal cord ependymoma 29.9 EPB41L3 NF2
26 dermatofibrosarcoma protuberans 29.8 CD34 PDGFB TP53
27 adenoid cystic carcinoma 29.8 AKT1 MKI67 PGR PTEN TP53
28 optic nerve sheath meningioma 12.3
29 intraorbital meningioma 12.3
30 secretory meningioma 12.2
31 childhood brain meningioma 12.2
32 brain meningioma 12.1
33 lymphoplasmacyte-rich meningioma 12.1
34 chordoid meningioma 12.1
35 cerebral meningioma 12.1
36 fibrous meningioma 12.1
37 transitional meningioma 12.1
38 tuberculum sellae meningioma 12.1
39 skull base meningioma 12.1
40 foramen magnum meningioma 12.1
41 cerebellopontine angle meningioma 12.1
42 cavernous sinus meningioma 12.1
43 pineal region meningioma 12.1
44 cerebral falx meningioma 12.1
45 petrous apex meningioma 12.1
46 parasagittal meningioma 12.1
47 intraventricular meningioma 12.1
48 middle cranial fossa meningioma 12.1
49 clivus meningioma 12.1
50 petroclival meningioma 12.1

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



Diseases related to Meningioma, Familial

Symptoms & Phenotypes for Meningioma, Familial

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
meningioma


Clinical features from OMIM:

607174

Human phenotypes related to Meningioma, Familial:

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

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 9.73 PCNA PDCD10 PDGFB PGR PTEN TP53
2 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.46 ESR1 MKI67 PCNA PTEN
3 Increased Nanog expression GR00371-A-1 9.35 MKI67 PCNA SMARCB1 SMARCE1
4 Increased Nanog expression GR00371-A-2 9.35 SMARCE1
5 Increased proliferation GR00094-A 8.8 NF2 SMARCB1 TP53

MGI Mouse Phenotypes related to Meningioma, Familial:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.34 AKT1 CD34 ESR1 MN1 NF2 PDCD10
2 growth/size/body region MP:0005378 10.33 AKT1 ESR1 MN1 NF2 PCNA PDCD10
3 mortality/aging MP:0010768 10.33 AKT1 EPB41L3 ESR1 MN1 NF2 PCNA
4 immune system MP:0005387 10.32 AKT1 CD34 ESR1 NF2 PCNA PDCD10
5 cardiovascular system MP:0005385 10.28 AKT1 ESR1 PDCD10 PDGFB PGR PTEN
6 hematopoietic system MP:0005397 10.28 AKT1 CD34 ESR1 PCNA PDCD10 PDGFB
7 embryo MP:0005380 10.27 AKT1 ESR1 NF2 PDCD10 PDGFB PGR
8 endocrine/exocrine gland MP:0005379 10.21 AKT1 EPB41L3 ESR1 NF2 PCNA PGR
9 integument MP:0010771 10.19 AKT1 CD34 ESR1 NF2 PDCD10 PDGFB
10 neoplasm MP:0002006 10.18 AKT1 CD34 EPB41L3 ESR1 MN1 NF2
11 digestive/alimentary MP:0005381 10.12 ESR1 MN1 PTEN SCHIP1 SMARCB1 SUFU
12 muscle MP:0005369 10.09 AKT1 ESR1 PDCD10 PDGFB PGR PTEN
13 liver/biliary system MP:0005370 10.08 AKT1 ESR1 NF2 PDGFB PTEN SMARCB1
14 normal MP:0002873 9.97 AKT1 EPB41L3 ESR1 MKI67 PDCD10 PGR
15 no phenotypic analysis MP:0003012 9.91 ESR1 MKI67 PCNA PDGFB PGR SUFU
16 reproductive system MP:0005389 9.9 AKT1 EPB41L3 ESR1 NF2 PCNA PDGFB
17 renal/urinary system MP:0005367 9.8 ESR1 NF2 PDCD10 PDGFB PTEN SCHIP1
18 respiratory system MP:0005388 9.56 AKT1 ESR1 MN1 NF2 PDGFB PTEN
19 skeleton MP:0005390 9.28 AKT1 ESR1 MN1 NF2 PGR PTEN

Drugs & Therapeutics for Meningioma, Familial

Search Clinical Trials , NIH Clinical Center for Meningioma, Familial

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: meningeal neoplasms

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:

41
Brain, Spinal Cord, Bone, Pituitary, Lung, Liver, Myeloid

Publications for Meningioma, Familial

Articles related to Meningioma, Familial:

(show top 50) (show all 756)
# Title Authors Year
1
In vitro assessment of radiobiology of meningioma: A pilot study. ( 30408557 )
2019
2
Uptake and Tracer Kinetic of O-(2-(18)F-fluoroethyl)-L-Tyrosine in Meningioma. ( 30540599 )
2019
3
Identification of PD-L2, B7-H3 and CTLA-4 immune checkpoint proteins in genetic subtypes of meningioma. ( 30546952 )
2019
4
Contiguous Metastasis of Pulmonary Adenocarcinoma to Meningioma. ( 30321884 )
2018
5
Value of Internal Carotid Artery Stenosis in the Differential Diagnosis between Invasive Pituitary Adenoma and Invasive Meningioma. ( 29532781 )
2018
6
Preoperative Prediction of Solitary Fibrous Tumor/Hemangiopericytoma and Angiomatous Meningioma Using Magnetic Resonance Imaging Texture Analysis. ( 30240864 )
2018
7
A rare case of diffuse intracranial aspergillosis masquerading as skull base meningioma in an immunocompetent patient. ( 30232959 )
2018
8
Risk of benign meningioma after childhood cancer in the DCOG-LATER cohort: contributions of radiation dose, exposed cranial volume, and age. ( 30099534 )
2018
9
In Reply to ""Wounded Meningioma Syndrome": Postoperative Exacerbation of Brain Edema in Brain-Invasive Meningioma". ( 29958376 )
2018
10
Giant Bilateral Calvarial Hyperostosis Secondary to Small Unilateral Frontal Meningioma. ( 30271067 )
2018
11
In Response to the Letter to the Editor Regarding "Optic Nerve Meningioma Mimicking Cavernous Hemangioma". ( 29288857 )
2018
12
A giant solid cavernous hemangioma mimicking sphenoid wing meningioma in an adolescent: A case report. ( 30383694 )
2018
13
Microsurgical Resection of Cavernous Sinus Meningioma: 2-Dimensional Operative Video. ( 29514273 )
2018
14
Gamma Knife stereotactic radiosurgery for cavernous sinus meningioma: long-term follow-up in 200 patients. ( 30028261 )
2018
15
Radiosurgery and fractionated radiotherapy for cavernous sinus meningioma: a systematic review and meta-analysis. ( 30393820 )
2018
16
Suboccipital Lateral Approach for Resection of Cerebellopontine Angle Meningioma: Operative Video and Technical Nuances. ( 30456039 )
2018
17
Gross Total Resection of Large Cerebellopontine Angle Meningioma with a Supratentorial Extension via Retrosigmoid Approach with Suprameatal Drilling and Tentorial Sectioning. ( 30456040 )
2018
18
Retrosigmoid Approach for Resection of Cerebellopontine Angle Meningioma. ( 30456043 )
2018
19
Participation restrictions in patients after surgery for cerebral meningioma. ( 30264851 )
2018
20
Foramen Magnum Chordoid Meningioma in a 22-Year-old Female. ( 30283559 )
2018
21
Spinal Clear Cell Meningioma: Clinical Study with Long-Term Follow-Up in 12 Patients. ( 30342264 )
2018
22
Intracranial clear cell meningioma: Clinical study with long-term follow-up in 24 patients. ( 30384120 )
2018
23
Two novel cases of spinal clear cell meningioma with vertebra involvement. ( 30545721 )
2018
24
Management of concomitant metabolic encephalopathy and meningioma with vasogenic edema and impending herniation. ( 29492325 )
2018
25
Isolated Tuberculoma Mimicking Foramen Magnum Meningioma in the Absence of Primary Tuberculosis: A Case Report. ( 30145853 )
2018
26
Collision Tumor of Glioblastoma and Meningioma: Case Report and Literature Review. ( 29890277 )
2018
27
Combined 68Ga-NOTA-PRGD2 and 18F-FDG PET/CT Can Discriminate Uncommon Meningioma Mimicking High-Grade Glioma. ( 30052597 )
2018
28
Guillain-Barre Syndrome Complicated on Postoperation on Renal Carcinoma and Meningioma. ( 29692389 )
2018
29
Severe headache in a patient with meningioma showing extensive dural tail correlates with IgG4-positive plasma cells and eosinophils: A case report and review of literature. ( 30386672 )
2018
30
Pre- and postoperative headache in patients with meningioma. ( 30089403 )
2018
31
Central nervous system histoplasmosis mimicking tentorium meningioma. ( 30304288 )
2018
32
Spinal canal meningioma mimicking posterior fossa ischemia on CT perfusion: A CT perfusion pitfall. ( 30228845 )
2018
33
68Ga-DOTATATE PET/CT Reveals Epstein-Barr Virus-Associated Nasopharyngeal Carcinoma in a Case of Suspected Sphenoid Wing Meningioma. ( 29401153 )
2018
34
Paraneoplastic Nephrotic Syndrome in a Patient with Planum Sphenoidale Meningioma. ( 30283568 )
2018
35
Regression of Giant Olfactory Groove Meningioma and Complete Visual Acuity Recovery after Discontinuation of Cyproterone Acetate. ( 30090195 )
2018
36
Minimally Invasive Interhemispheric Approach for Giant Olfactory Groove Meningioma: Technical Note. ( 30217781 )
2018
37
Olfactory groove meningioma masquerading as psychiatric disturbances. ( 30405268 )
2018
38
Optic nerve sheath meningioma. ( 30054955 )
2018
39
The Use of 68Ga-DOTATATE PET/CT in the Non-invasive Diagnosis of Optic Nerve Sheath Meningioma: A Case Report. ( 30386741 )
2018
40
Otitis Media with Effusion Revealing Underlying Meningioma. ( 29764792 )
2018
41
Mixture Model Segmentation System for Parasagittal Meningioma brain Tumor Classification based on Hybrid Feature Vector. ( 30392052 )
2018
42
Resection of Petroclival Meningioma Through Retrosigmoid Approach-Concepts and Nuances: 3- Dimensional Operative Video. ( 29444298 )
2018
43
Susceptibility-Weighted Imaging of Deep Venous Congestion in Petroclival Meningioma. ( 30236813 )
2018
44
Resection of a Petroclival Meningioma via the Endoscope-Assisted Retrosigmoid Approach: 2-D Operative Video. ( 30456038 )
2018
45
Preservation of venous drainage in middle fossa during combined transpetrosal approach for petroclival meningioma. ( 30529519 )
2018
46
Pathological laughter as an early and unusual presenting symptom of petroclival meningioma: A case report and review of literature. ( 30554003 )
2018
47
Giant Pediatric Rhabdoid Meningioma Associated with a Germline BAP1 Pathogenic Variation: A Rare Clinical Case. ( 29981911 )
2018
48
A Rare Case of Isolated Intracranial Rosai-Dorfman Disease Mimicking Optic Nerve Meningioma: A Case Report and Literature Review. ( 30283562 )
2018
49
Fractionated Gamma Knife Radiosurgery as Initial Treatment for Large Skull Base Meningioma. ( 30022876 )
2018
50
Progesterone Receptor Is Responsible for Benign Biology of Skull Base Meningioma. ( 30031954 )
2018

Variations for Meningioma, Familial

ClinVar genetic disease variations for Meningioma, Familial:

6 (show top 50) (show all 231)
# Gene Variation Type Significance SNP ID Assembly Location
1 AKT1 NM_005163.2(AKT1): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434592 GRCh37 Chromosome 14, 105246551: 105246551
2 AKT1 NM_005163.2(AKT1): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434592 GRCh38 Chromosome 14, 104780214: 104780214
3 SMARCE1 NM_003079.4(SMARCE1): c.218A> G (p.Tyr73Cys) single nucleotide variant Likely pathogenic rs387906857 GRCh37 Chromosome 17, 38793763: 38793763
4 SMARCE1 NM_003079.4(SMARCE1): c.218A> G (p.Tyr73Cys) single nucleotide variant Likely pathogenic rs387906857 GRCh38 Chromosome 17, 40637511: 40637511
5 SUFU NM_016169.3(SUFU): c.367C> T (p.Arg123Cys) single nucleotide variant risk factor rs202247756 GRCh37 Chromosome 10, 104309776: 104309776
6 SUFU NM_016169.3(SUFU): c.367C> T (p.Arg123Cys) single nucleotide variant risk factor rs202247756 GRCh38 Chromosome 10, 102550019: 102550019
7 SUFU NM_016169.3(SUFU): c.367C> T (p.Arg123Cys) single nucleotide variant risk factor rs202247756 NCBI36 Chromosome 10, 104299766: 104299766
8 PTEN NM_000314.6(PTEN): c.235G> A (p.Ala79Thr) single nucleotide variant Likely benign rs202004587 GRCh37 Chromosome 10, 89690828: 89690828
9 PTEN NM_000314.6(PTEN): c.235G> A (p.Ala79Thr) single nucleotide variant Likely benign rs202004587 GRCh38 Chromosome 10, 87931071: 87931071
10 SMARCE1 NM_003079.4(SMARCE1): c.715C> T (p.Arg239Ter) single nucleotide variant risk factor rs397509405 GRCh37 Chromosome 17, 38787945: 38787945
11 SMARCE1 NM_003079.4(SMARCE1): c.715C> T (p.Arg239Ter) single nucleotide variant risk factor rs397509405 GRCh38 Chromosome 17, 40631693: 40631693
12 SMARCE1 NM_003079.4(SMARCE1): c.237+2T> C single nucleotide variant risk factor rs397509406 GRCh37 Chromosome 17, 38793742: 38793742
13 SMARCE1 NM_003079.4(SMARCE1): c.237+2T> C single nucleotide variant risk factor rs397509406 GRCh38 Chromosome 17, 40637490: 40637490
14 SMARCE1 NM_003079.4(SMARCE1): c.311G> A (p.Trp104Ter) single nucleotide variant risk factor rs397509407 GRCh37 Chromosome 17, 38792705: 38792705
15 SMARCE1 NM_003079.4(SMARCE1): c.311G> A (p.Trp104Ter) single nucleotide variant risk factor rs397509407 GRCh38 Chromosome 17, 40636453: 40636453
16 SMARCE1 NM_003079.4(SMARCE1): c.572dupC (p.Ala192Serfs) duplication risk factor rs397509408 GRCh37 Chromosome 17, 38788589: 38788589
17 SMARCE1 NM_003079.4(SMARCE1): c.572dupC (p.Ala192Serfs) duplication risk factor rs397509408 GRCh38 Chromosome 17, 40632337: 40632337
18 PTEN NM_000314.6(PTEN): c.882T> G (p.Ser294Arg) single nucleotide variant Uncertain significance rs143335584 GRCh37 Chromosome 10, 89720731: 89720731
19 PTEN NM_000314.6(PTEN): c.882T> G (p.Ser294Arg) single nucleotide variant Uncertain significance rs143335584 GRCh38 Chromosome 10, 87960974: 87960974
20 PTEN NM_000314.6(PTEN): c.892C> G (p.Gln298Glu) single nucleotide variant Uncertain significance rs371387815 GRCh37 Chromosome 10, 89720741: 89720741
21 PTEN NM_000314.6(PTEN): c.892C> G (p.Gln298Glu) single nucleotide variant Uncertain significance rs371387815 GRCh38 Chromosome 10, 87960984: 87960984
22 SMARCE1 NM_003079.4(SMARCE1): c.624_627delTGAG (p.Ser208Argfs) deletion Pathogenic rs797045990 GRCh37 Chromosome 17, 38788534: 38788537
23 SMARCE1 NM_003079.4(SMARCE1): c.624_627delTGAG (p.Ser208Argfs) deletion Pathogenic rs797045990 GRCh38 Chromosome 17, 40632282: 40632285
24 SMARCE1 NM_003079.4(SMARCE1): c.1231G> T (p.Glu411Ter) single nucleotide variant Benign/Likely benign rs62622817 GRCh38 Chromosome 17, 40628790: 40628790
25 SMARCE1 NM_003079.4(SMARCE1): c.1231G> T (p.Glu411Ter) single nucleotide variant Benign/Likely benign rs62622817 GRCh37 Chromosome 17, 38785042: 38785042
26 SMARCE1 NM_003079.4(SMARCE1): c.1122C> T (p.Val374=) single nucleotide variant Likely benign rs144057094 GRCh37 Chromosome 17, 38785151: 38785151
27 SMARCE1 NM_003079.4(SMARCE1): c.1122C> T (p.Val374=) single nucleotide variant Likely benign rs144057094 GRCh38 Chromosome 17, 40628899: 40628899
28 SMARCE1 NM_003079.4(SMARCE1): c.1079G> A (p.Gly360Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142193069 GRCh37 Chromosome 17, 38785194: 38785194
29 SMARCE1 NM_003079.4(SMARCE1): c.1079G> A (p.Gly360Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142193069 GRCh38 Chromosome 17, 40628942: 40628942
30 SMARCE1 NM_003079.4(SMARCE1): c.963G> A (p.Glu321=) single nucleotide variant Benign rs753203502 GRCh38 Chromosome 17, 40630778: 40630778
31 SMARCE1 NM_003079.4(SMARCE1): c.963G> A (p.Glu321=) single nucleotide variant Benign rs753203502 GRCh37 Chromosome 17, 38787030: 38787030
32 SMARCE1 NM_003079.4(SMARCE1): c.597C> T (p.Asn199=) single nucleotide variant Likely benign rs878854604 GRCh37 Chromosome 17, 38788564: 38788564
33 SMARCE1 NM_003079.4(SMARCE1): c.597C> T (p.Asn199=) single nucleotide variant Likely benign rs878854604 GRCh38 Chromosome 17, 40632312: 40632312
34 SMARCE1 NM_003079.4(SMARCE1): c.525delT (p.Ala176Leufs) deletion Pathogenic rs878854603 GRCh37 Chromosome 17, 38792199: 38792199
35 SMARCE1 NM_003079.4(SMARCE1): c.525delT (p.Ala176Leufs) deletion Pathogenic rs878854603 GRCh38 Chromosome 17, 40635947: 40635947
36 SMARCE1 NM_003079.4(SMARCE1): c.484T> A (p.Ser162Thr) single nucleotide variant Uncertain significance rs878854602 GRCh37 Chromosome 17, 38792240: 38792240
37 SMARCE1 NM_003079.4(SMARCE1): c.484T> A (p.Ser162Thr) single nucleotide variant Uncertain significance rs878854602 GRCh38 Chromosome 17, 40635988: 40635988
38 SMARCE1 NM_003079.4(SMARCE1): c.351C> T (p.Asn117=) single nucleotide variant Benign/Likely benign rs149613910 GRCh37 Chromosome 17, 38792665: 38792665
39 SMARCE1 NM_003079.4(SMARCE1): c.351C> T (p.Asn117=) single nucleotide variant Benign/Likely benign rs149613910 GRCh38 Chromosome 17, 40636413: 40636413
40 SMARCE1 NM_003079.4(SMARCE1): c.331G> C (p.Glu111Gln) single nucleotide variant Uncertain significance rs878854601 GRCh37 Chromosome 17, 38792685: 38792685
41 SMARCE1 NM_003079.4(SMARCE1): c.331G> C (p.Glu111Gln) single nucleotide variant Uncertain significance rs878854601 GRCh38 Chromosome 17, 40636433: 40636433
42 SMARCE1 NM_003079.4(SMARCE1): c.300T> A (p.Ile100=) single nucleotide variant Likely benign rs143363725 GRCh37 Chromosome 17, 38792716: 38792716
43 SMARCE1 NM_003079.4(SMARCE1): c.300T> A (p.Ile100=) single nucleotide variant Likely benign rs143363725 GRCh38 Chromosome 17, 40636464: 40636464
44 SMARCE1 NM_003079.4(SMARCE1): c.135G> A (p.Pro45=) single nucleotide variant Likely benign rs148373393 GRCh38 Chromosome 17, 40642476: 40642476
45 SMARCE1 NM_003079.4(SMARCE1): c.135G> A (p.Pro45=) single nucleotide variant Likely benign rs148373393 GRCh37 Chromosome 17, 38798728: 38798728
46 SMARCE1 NM_003079.4(SMARCE1): c.1016C> T (p.Pro339Leu) single nucleotide variant Uncertain significance rs1060501398 GRCh38 Chromosome 17, 40630725: 40630725
47 SMARCE1 NM_003079.4(SMARCE1): c.1016C> T (p.Pro339Leu) single nucleotide variant Uncertain significance rs1060501398 GRCh37 Chromosome 17, 38786977: 38786977
48 SMARCE1 NM_003079.4(SMARCE1): c.945G> A (p.Gln315=) single nucleotide variant Likely benign rs1060504226 GRCh38 Chromosome 17, 40630796: 40630796
49 SMARCE1 NM_003079.4(SMARCE1): c.945G> A (p.Gln315=) single nucleotide variant Likely benign rs1060504226 GRCh37 Chromosome 17, 38787048: 38787048
50 SMARCE1 NM_003079.4(SMARCE1): c.370-6T> C single nucleotide variant Uncertain significance rs1060501397 GRCh38 Chromosome 17, 40636108: 40636108

Cosmic variations for Meningioma, Familial:

9 (show top 50) (show all 6981)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM216037 SMO meninges,NS,meningioma,meningothelial c.1234C>T p.L412F 7:129206557-129206557 24
2 COSM13146 SMO meninges,NS,meningioma,meningothelial c.1604G>T p.W535L 7:129210500-129210500 24
3 COSM24552 NF2 meninges,NS,meningioma,meningothelial c.1341-2A>G p.? 22:29674834-29674834 24
4 COSM22000 NF2 meninges,NS,meningioma,meningothelial c.784C>T p.R262* 22:29661313-29661313 24
5 COSM22240 NF2 meninges,NS,meningioma,meningothelial c.634C>T p.Q212* 22:29658223-29658223 24
6 COSM22306 NF2 meninges,NS,meningioma,meningothelial c.600-3C>G p.? 22:29658186-29658186 24
7 COSM22301 NF2 meninges,NS,meningioma,meningothelial c.1340+1G>A p.? 22:29673487-29673487 24
8 COSM22273 NF2 meninges,NS,meningioma,meningothelial c.1341-1G>A p.? 22:29674835-29674835 24
9 COSM86033 NF2 meninges,NS,meningioma,meningothelial c.1264G>T p.E422* 22:29673410-29673410 24
10 COSM22294 NF2 meninges,NS,meningioma,meningothelial c.551G>A p.W184* 22:29655628-29655628 24
11 COSM22339 NF2 meninges,NS,meningioma,meningothelial c.364-1G>C p.? 22:29642201-29642201 24
12 COSM23845 NF2 meninges,NS,meningioma,meningothelial c.552G>A p.W184* 22:29655629-29655629 24
13 COSM22210 NF2 meninges,NS,meningioma,meningothelial c.1198C>T p.Q400* 22:29673344-29673344 24
14 COSM49112 NF2 meninges,NS,meningioma,meningothelial c.517-1G>A p.? 22:29655593-29655593 24
15 COSM49113 NF2 meninges,NS,meningioma,meningothelial c.955C>T p.Q319* 22:29668402-29668402 24
16 COSM24551 NF2 meninges,NS,meningioma,meningothelial c.241-2A>C p.? 22:29639088-29639088 24
17 COSM6936975 NTRK1 meninges,NS,meningioma,atypical c.1404C>A p.F468L 1:156875569-156875569 23
18 COSM22249 NF2 meninges,NS,meningioma,atypical c.1009C>T p.Q337* 22:29671835-29671835 23
19 COSM21991 NF2 meninges,NS,meningioma,atypical c.169C>T p.R57* 22:29636805-29636805 23
20 COSM24538 NF2 meninges,NS,meningioma,atypical c.810+1G>A p.? 22:29661340-29661340 23
21 COSM22254 NF2 meninges,NS,meningioma,atypical c.586C>T p.R196* 22:29655663-29655663 23
22 COSM23850 NF2 meninges,NS,meningioma,atypical c.447+1G>A p.? 22:29642286-29642286 23
23 COSM22432 NF2 meninges,NS,meningioma,atypical c.592C>T p.R198* 22:29655669-29655669 23
24 COSM22299 NF2 meninges,NS,meningioma,atypical c.114+1G>T p.? 22:29604113-29604113 23
25 COSM22300 NF2 meninges,NS,meningioma,atypical c.115-1G>C p.? 22:29636750-29636750 23
26 COSM6946913 DAXX meninges,NS,meningioma,atypical c.983G>C p.R328P 6:33320792-33320792 23
27 COSM5886913 CREBBP meninges,NS,meningioma,atypical c.4174C>T p.R1392* 16:3739684-3739684 23
28 COSM33765 AKT1 meninges,NS,meningioma,atypical c.49G>A p.E17K 14:104780214-104780214 23
29 COSM6936976 meninges,NS,meningioma,atypical c.1296C>A p.F432L 1:156875569-156875569 23
30 COSM1663043 meninges,NS,meningioma,atypical c.592C>T p.R198* 22:29655669-29655669 23
31 COSM5702591 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 10
32 COSM5702574 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 10
33 COSM5702592 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 10
34 COSM40802 ZW10 central nervous system,brain,glioma,NS c.2140C>T p.P714S 11:113736699-113736699 6
35 COSM40801 ZSWIM4 central nervous system,brain,glioma,NS c.266C>T p.P89L 19:13799832-13799832 6
36 COSM6932117 ZRSR2 central nervous system,brain,glioma,NS c.271G>A p.E91K 23:15803755-15803755 6
37 COSM6948317 ZRSR2 central nervous system,brain,glioma,NS c.340C>T p.Q114* 23:15804138-15804138 6
38 COSM6959574 ZRSR2 central nervous system,brain,glioma,NS c.260G>A p.R87K 23:15803744-15803744 6
39 COSM6932118 ZRSR2 central nervous system,brain,glioma,NS c.961C>T p.P321S 23:15822754-15822754 6
40 COSM6973162 ZRSR2 central nervous system,brain,glioma,NS c.220G>A p.E74K 23:15803704-15803704 6
41 COSM39611 ZPLD1 central nervous system,brain,glioma,NS c.393A>T p.G131G 3:102456210-102456210 6
42 COSM40237 ZNF687 central nervous system,brain,glioma,NS c.3651C>T p.T1217T 1:151291146-151291146 6
43 COSM39318 ZNF687 central nervous system,brain,glioma,NS c.2044T>A p.C682S 1:151288335-151288335 6
44 COSM39317 ZNF687 central nervous system,brain,glioma,NS c.2043G>C p.Q681H 1:151288334-151288334 6
45 COSM39149 ZNF507 central nervous system,brain,glioma,NS c.1517G>C p.R506T 19:32354347-32354347 6
46 COSM40794 ZNF473 central nervous system,brain,glioma,NS c.42C>T p.D14D 19:50039193-50039193 6
47 COSM39217 ZMYND8 central nervous system,brain,glioma,NS c.2162T>G p.V721G 20:47246130-47246130 6
48 COSM40504 ZMYND8 central nervous system,brain,glioma,NS c.2176G>A p.D726N 20:47246116-47246116 6
49 COSM5977723 ZMYM2 central nervous system,spinal cord,glioma,NS c.1134-1G>T p.? 13:20005073-20005073 6
50 COSM5977724 ZMYM2 central nervous system,spinal cord,glioma,NS c.1134-1G>T p.? 13:20005073-20005073 6

Expression for Meningioma, Familial

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

Pathways for Meningioma, Familial

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

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 AKT1 PCNA PDGFB PTEN TP53
2
Show member pathways
12.58 AKT1 ESR1 PDGFB PTEN TP53
3 12.45 AKT1 ESR1 PDGFB PTEN SUFU TP53
4 12.27 AKT1 PCNA PDGFB TP53
5
Show member pathways
12.22 AKT1 PCNA PTEN TP53
6
Show member pathways
12.17 AKT1 ESR1 PGR PTEN SMARCB1 SMARCE1
7 11.86 AKT1 ESR1 PTEN TP53
8 11.72 AKT1 PTEN TP53
9 11.7 AKT1 PTEN SMARCE1
10 11.65 AKT1 PTEN TP53
11 11.57 AKT1 MKI67 PCNA
12
Show member pathways
11.52 ESR1 SMARCB1 SMARCE1
13 11.47 AKT1 PTEN TP53
14 11.37 AKT1 PTEN TP53
15 11.34 AKT1 PDGFB PTEN
16 11.28 AKT1 PTEN SMARCE1 TP53
17 11.24 AKT1 PTEN TP53
18 11.07 ESR1 PTEN TP53
19 11.07 AKT1 NF2 PDGFB PTEN TP53

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 nucleus GO:0005634 9.8 AKT1 ESR1 MKI67 NF2 PCNA PGR
2 nuclear body GO:0016604 9.62 MKI67 PCNA SCHIP1 TP53
3 nBAF complex GO:0071565 9.26 SMARCB1 SMARCE1
4 npBAF complex GO:0071564 9.16 SMARCB1 SMARCE1
5 nuclear chromatin GO:0000790 8.92 ESR1 SMARCB1 SMARCE1 TP53

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.88 AKT1 EPB41L3 PDCD10 PTEN TP53 TRAF7
2 regulation of apoptotic process GO:0042981 9.8 AKT1 ESR1 NF2 TP53
3 positive regulation of gene expression GO:0010628 9.73 AKT1 CD34 PDCD10 PDGFB PTEN TP53
4 chromatin remodeling GO:0006338 9.69 ESR1 SMARCB1 SMARCE1
5 cell proliferation GO:0008283 9.63 AKT1 CD34 MKI67 PCNA PTEN TP53
6 positive regulation of DNA-binding transcription factor activity GO:0051091 9.62 AKT1 ESR1 PTEN SMARCB1
7 positive regulation of RNA polymerase II transcriptional preinitiation complex assembly GO:0045899 9.48 ESR1 TP53
8 negative regulation of cell size GO:0045792 9.46 AKT1 PTEN
9 interleukin-18-mediated signaling pathway GO:0035655 9.43 AKT1 PDGFB
10 negative regulation of gene expression GO:0010629 9.43 AKT1 CD34 ESR1 PDCD10 PDGFB PGR
11 cellular response to decreased oxygen levels GO:0036294 9.37 AKT1 PTEN
12 paracrine signaling GO:0038001 8.8 CD34 PDGFB PGR

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.72 ESR1 PGR SMARCB1 SMARCE1 TP53
2 protein kinase binding GO:0019901 9.63 AKT1 ESR1 PDCD10 PTEN SUFU TP53
3 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.61 SMARCB1 SMARCE1 TP53
4 identical protein binding GO:0042802 9.56 AKT1 ESR1 PCNA PDGFB PGR PTEN
5 platelet-derived growth factor receptor binding GO:0005161 9.4 PDGFB PTEN
6 nitric-oxide synthase regulator activity GO:0030235 9.37 AKT1 ESR1
7 enzyme binding GO:0019899 9.1 AKT1 ESR1 PCNA PGR PTEN TP53
8 protein binding GO:0005515 10.21 AKT1 EPB41L3 ESR1 MKI67 NF2 PCNA

Sources for Meningioma, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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