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MCID: MNN043
MIFTS: 60

Meningioma, Familial

Categories: Genetic diseases, Rare diseases, Cancer diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Meningioma, Familial

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases


Sources

Summaries for Meningioma, Familial

About this section
NIH Rare Diseases : 53 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.

MalaCards based summary : Meningioma, Familial, also known as meningioma, is related to spinal meningioma and meningioma, radiation-induced, and has symptoms including headache and seizures. An important gene associated with Meningioma, Familial is SMARCE1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1), and among its related pathways/superpathways are Pathways in cancer and Prolactin Signaling Pathway. Affiliated tissues include brain, spinal cord and pituitary, and related phenotypes are meningioma and urinary incontinence

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

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...

Sources

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 456)
# Related Disease Score Top Affiliating Genes
1 spinal meningioma 35.4 NF2 PGR SMARCE1
2 meningioma, radiation-induced 35.0 NF2 PDGFB
3 lung meningioma 34.9 NF2 PGR
4 clear cell meningioma 34.8 GFAP PGR SMARCE1
5 rhabdoid meningioma 34.8 GFAP NF2 SMARCB1 VIM
6 meningothelial meningioma 34.7 NF2 SMARCE1
7 intraventricular meningioma 34.7 GFAP NF2
8 cerebral convexity meningioma 34.5 GFAP NF2
9 spinal canal and spinal cord meningioma 34.5 NF2 PGR SMARCE1
10 benign meningioma 34.5 EPB41L3 MKI67 NF2 PCNA PGR SMARCE1
11 olfactory groove meningioma 34.5 NF2 PGR
12 fibrous meningioma 34.0 NF2 VIM
13 neurofibromatosis, type ii 33.9 EPB41L3 NF2 RDX
14 chordoid meningioma 33.8 GFAP VIM
15 schwannomatosis 1 33.1 NF2 SMARCB1
16 endometriosis 31.8 ESR1 H19 MIR200A PGR
17 ependymoma 31.8 GFAP MKI67 NF2 VIM
18 glioblastoma 31.7 AKT1 H19 MEG3 NOS2 PDGFB PTEN
19 neuroma 31.7 GFAP NF2 SMARCB1
20 glioblastoma multiforme 31.4 AKT1 GFAP PDGFB PTEN
21 grade iii astrocytoma 31.4 GFAP PCNA PTEN
22 chordoma 31.4 GFAP PTEN SMARCB1 VIM
23 neurilemmoma 31.4 GFAP NF2 SMARCB1 VIM
24 medulloblastoma 31.3 AKT1 GFAP H19 PDGFB PTEN SMARCB1
25 oligodendroglioma 31.2 GFAP PCNA PTEN
26 anaplastic ependymoma 31.2 GFAP NF2 PTEN VIM
27 monosomy 22 31.1 NF2 SMARCB1
28 gliosarcoma 31.0 GFAP PTEN VIM
29 atypical teratoid rhabdoid tumor 30.9 GFAP SMARCB1 VIM
30 gastrointestinal stromal tumor 30.8 AKT1 MKI67 PTEN VIM
31 gangliocytoma 30.8 GFAP PTEN
32 adenoid cystic carcinoma 30.8 AKT1 MKI67 PCNA PTEN VIM
33 tuberous sclerosis 30.7 AKT1 GFAP VIM
34 optic nerve sheath meningioma 12.2
35 intraorbital meningioma 12.1
36 secretory meningioma 12.0
37 lymphoplasmacyte-rich meningioma 11.9
38 cerebral meningioma 11.9
39 transitional meningioma 11.9
40 tuberculum sellae meningioma 11.9
41 skull base meningioma 11.9
42 cerebellopontine angle meningioma 11.9
43 foramen magnum meningioma 11.9
44 cavernous sinus meningioma 11.9
45 brain meningioma 11.9
46 pineal region meningioma 11.9
47 parasagittal meningioma 11.9
48 petrous apex meningioma 11.9
49 anterior cranial fossa meningioma 11.9
50 clivus meningioma 11.9

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

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
meningioma


Clinical features from OMIM:

607174

Human phenotypes related to Meningioma, Familial:

32 (show top 50) (show all 66)
# Description HPO Frequency HPO Source Accession
1 meningioma 32 HP:0002858
2 urinary incontinence 32 very rare (1%) HP:0000020
3 hypogonadotrophic hypogonadism 32 frequent (33%) HP:0000044
4 amenorrhea 32 frequent (33%) HP:0000141
5 hydrocephalus 32 occasional (7.5%) HP:0000238
6 tinnitus 32 very rare (1%) HP:0000360
7 proptosis 32 very rare (1%) HP:0000520
8 ophthalmoplegia 32 occasional (7.5%) HP:0000602
9 blindness 32 very rare (1%) HP:0000618
10 emotional lability 32 very rare (1%) HP:0000712
11 impotence 32 frequent (33%) HP:0000802
12 prolactin excess 32 frequent (33%) HP:0000870
13 neurofibromas 32 occasional (7.5%) HP:0001067
14 papilledema 32 occasional (7.5%) HP:0001085
15 ataxia 32 occasional (7.5%) HP:0001251
16 excessive daytime somnolence 32 very rare (1%) HP:0001262
17 hemiparesis 32 occasional (7.5%) HP:0001269
18 syncope 32 very rare (1%) HP:0001279
19 cerebral hemorrhage 32 very rare (1%) HP:0001342
20 obesity 32 occasional (7.5%) HP:0001513
21 nausea and vomiting 32 frequent (33%) HP:0002017
22 neurological speech impairment 32 very rare (1%) HP:0002167
23 headache 32 frequent (33%) HP:0002315
24 difficulty walking 32 occasional (7.5%) HP:0002355
25 brain stem compression 32 very rare (1%) HP:0002512
26 increased intracranial pressure 32 occasional (7.5%) HP:0002516
27 decreased circulating acth level 32 frequent (33%) HP:0002920
28 back pain 32 very rare (1%) HP:0003418
29 upper limb muscle weakness 32 occasional (7.5%) HP:0003484
30 abnormality of the sense of smell 32 occasional (7.5%) HP:0004408
31 progressive pulmonary function impairment 32 very rare (1%) HP:0006520
32 lower limb muscle weakness 32 occasional (7.5%) HP:0007340
33 focal seizures 32 frequent (33%) HP:0007359
34 weak extraocular muscles 32 occasional (7.5%) HP:0007715
35 slow decrease in visual acuity 32 occasional (7.5%) HP:0007924
36 decreased circulating cortisol level 32 frequent (33%) HP:0008163
37 prolactin deficiency 32 occasional (7.5%) HP:0008202
38 decreased serum estradiol 32 frequent (33%) HP:0008214
39 decreased testosterone in males 32 frequent (33%) HP:0008230
40 hypothalamic hypothyroidism 32 occasional (7.5%) HP:0008237
41 secondary growth hormone deficiency 32 frequent (33%) HP:0008240
42 pituitary hypothyroidism 32 frequent (33%) HP:0008245
43 transient global amnesia 32 very rare (1%) HP:0010534
44 facial palsy 32 occasional (7.5%) HP:0010628
45 hemifacial spasm 32 very rare (1%) HP:0010828
46 chromosomal breakage induced by ionizing radiation 32 hallmark (90%) HP:0010997
47 increased sensitivity to ionizing radiation 32 hallmark (90%) HP:0011133
48 abnormality of central sensory function 32 occasional (7.5%) HP:0011730
49 neoplasm of the anterior pituitary 32 occasional (7.5%) HP:0011750
50 neoplasm of the posterior pituitary 32 very rare (1%) HP:0011752

UMLS symptoms related to Meningioma, Familial:


headache, seizures

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Chlamydia trachomatis serovar L2 infection and TNF-alpha/CHX stimulation GR00206-A 9.33 AKT1 NOS2 RDX
2 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.26 ESR1 MKI67 PCNA PTEN
3 Increased Nanog expression GR00371-A-1 9.02 MKI67 PCNA SMARCB1 SMARCE1
4 Increased Nanog expression GR00371-A-2 9.02 SMARCE1

MGI Mouse Phenotypes related to Meningioma, Familial:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 AKT1 EPB41L3 ESR1 GFAP MN1 NF2
2 homeostasis/metabolism MP:0005376 10.31 AKT1 ESR1 GFAP MN1 NF2 NOS2
3 mortality/aging MP:0010768 10.31 EPB41L3 ESR1 GFAP MN1 NF2 NOS2
4 immune system MP:0005387 10.29 ESR1 GFAP NF2 NOS2 PCNA PDGFB
5 cardiovascular system MP:0005385 10.24 AKT1 ESR1 GFAP NOS2 PDGFB PGR
6 embryo MP:0005380 10.16 AKT1 ESR1 NF2 PDGFB PGR PTEN
7 liver/biliary system MP:0005370 10.09 AKT1 ESR1 NF2 NOS2 PDGFB PTEN
8 digestive/alimentary MP:0005381 10.07 MN1 NOS2 PTEN SMARCB1 SUFU ESR1
9 integument MP:0010771 10.06 AKT1 ESR1 NF2 NOS2 PDGFB PGR
10 nervous system MP:0003631 10.03 NOS2 PDGFB PTEN RDX SMARCB1 SUFU
11 muscle MP:0005369 10.02 AKT1 ESR1 GFAP NOS2 PDGFB PGR
12 neoplasm MP:0002006 10.02 AKT1 EPB41L3 ESR1 MN1 NF2 NOS2
13 reproductive system MP:0005389 9.93 AKT1 EPB41L3 ESR1 NF2 NOS2 PCNA
14 respiratory system MP:0005388 9.61 SUFU VIM AKT1 ESR1 MN1 NF2
15 vision/eye MP:0005391 9.23 GFAP NF2 NOS2 PDGFB PTEN SMARCB1
Sources

Drugs & Therapeutics for Meningioma, Familial

About this section

Search Clinical Trials , NIH Clinical Center for Meningioma, Familial

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


Cochrane evidence based reviews: meningeal neoplasms

Sources

Genetic Tests for Meningioma, Familial

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Genetic tests related to Meningioma, Familial:

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

Anatomical Context for Meningioma, Familial

About this section

MalaCards organs/tissues related to Meningioma, Familial:

41
Brain, Spinal Cord, Pituitary, Testes, Tongue
Sources

Publications for Meningioma, Familial

About this section

Articles related to Meningioma, Familial:

# Title Authors Year
1
Familial meningioma: analysis of expression of neurofibromatosis 2 protein Merlin. Report of two cases. ( 9488313 )
1998
2
Familial meningioma is not allelic to neurofibromatosis 2. ( 8413972 )
1993
3
Familial meningioma. ( 2300254 )
1990
4
Familial meningioma. Case report with cytogenetic study. ( 3282746 )
1988
5
Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma. ( 3969118 )
1985
Sources

Variations for Meningioma, Familial

About this section

ClinVar genetic disease variations for Meningioma, Familial:

6
(show top 50) (show all 210)
# 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.995delA (p.Lys332Serfs) deletion Pathogenic rs587776563 GRCh38 Chromosome 22, 29668442: 29668442
3 NF2 NM_000268.3(NF2): c.169C> T (p.Arg57Ter) single nucleotide variant Pathogenic rs121434259 GRCh37 Chromosome 22, 30032794: 30032794
4 NF2 NM_000268.3(NF2): c.169C> T (p.Arg57Ter) single nucleotide variant Pathogenic rs121434259 GRCh38 Chromosome 22, 29636805: 29636805
5 PDGFB PDGFB, 135-BP DEL, IVS5 deletion Pathogenic
6 AKT1 NM_005163.2(AKT1): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434592 GRCh37 Chromosome 14, 105246551: 105246551
7 AKT1 NM_005163.2(AKT1): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434592 GRCh38 Chromosome 14, 104780214: 104780214
8 SMARCE1 NM_003079.4(SMARCE1): c.218A> G (p.Tyr73Cys) single nucleotide variant Likely pathogenic rs387906857 GRCh37 Chromosome 17, 38793763: 38793763
9 SMARCE1 NM_003079.4(SMARCE1): c.218A> G (p.Tyr73Cys) single nucleotide variant Likely pathogenic rs387906857 GRCh38 Chromosome 17, 40637511: 40637511
10 SUFU NM_016169.3(SUFU): c.367C> T (p.Arg123Cys) single nucleotide variant risk factor rs202247756 GRCh37 Chromosome 10, 104309776: 104309776
11 SUFU NM_016169.3(SUFU): c.367C> T (p.Arg123Cys) single nucleotide variant risk factor rs202247756 GRCh38 Chromosome 10, 102550019: 102550019
12 SUFU NM_016169.3(SUFU): c.367C> T (p.Arg123Cys) single nucleotide variant risk factor rs202247756 NCBI36 Chromosome 10, 104299766: 104299766
13 SMARCE1 NM_003079.4(SMARCE1): c.715C> T (p.Arg239Ter) single nucleotide variant risk factor rs397509405 GRCh37 Chromosome 17, 38787945: 38787945
14 SMARCE1 NM_003079.4(SMARCE1): c.715C> T (p.Arg239Ter) single nucleotide variant risk factor rs397509405 GRCh38 Chromosome 17, 40631693: 40631693
15 SMARCE1 NM_003079.4(SMARCE1): c.237+2T> C single nucleotide variant risk factor rs397509406 GRCh37 Chromosome 17, 38793742: 38793742
16 SMARCE1 NM_003079.4(SMARCE1): c.237+2T> C single nucleotide variant risk factor rs397509406 GRCh38 Chromosome 17, 40637490: 40637490
17 SMARCE1 NM_003079.4(SMARCE1): c.311G> A (p.Trp104Ter) single nucleotide variant risk factor rs397509407 GRCh37 Chromosome 17, 38792705: 38792705
18 SMARCE1 NM_003079.4(SMARCE1): c.311G> A (p.Trp104Ter) single nucleotide variant risk factor rs397509407 GRCh38 Chromosome 17, 40636453: 40636453
19 SMARCE1 NM_003079.4(SMARCE1): c.572dupC (p.Ala192Serfs) duplication risk factor rs397509408 GRCh37 Chromosome 17, 38788589: 38788589
20 SMARCE1 NM_003079.4(SMARCE1): c.572dupC (p.Ala192Serfs) duplication risk factor rs397509408 GRCh38 Chromosome 17, 40632337: 40632337
21 SMARCE1 NM_003079.4(SMARCE1): c.624_627delTGAG (p.Ser208Argfs) deletion Pathogenic rs797045990 GRCh37 Chromosome 17, 38788534: 38788537
22 SMARCE1 NM_003079.4(SMARCE1): c.624_627delTGAG (p.Ser208Argfs) deletion Pathogenic rs797045990 GRCh38 Chromosome 17, 40632282: 40632285
23 SMARCE1 NM_003079.4(SMARCE1): c.963G> A (p.Glu321=) single nucleotide variant Benign rs753203502 GRCh38 Chromosome 17, 40630778: 40630778
24 SMARCE1 NM_003079.4(SMARCE1): c.963G> A (p.Glu321=) single nucleotide variant Benign rs753203502 GRCh37 Chromosome 17, 38787030: 38787030
25 SMARCE1 NM_003079.4(SMARCE1): c.1231G> T (p.Glu411Ter) single nucleotide variant Benign/Likely benign rs62622817 GRCh38 Chromosome 17, 40628790: 40628790
26 SMARCE1 NM_003079.4(SMARCE1): c.1231G> T (p.Glu411Ter) single nucleotide variant Benign/Likely benign rs62622817 GRCh37 Chromosome 17, 38785042: 38785042
27 SMARCE1 NM_003079.4(SMARCE1): c.1122C> T (p.Val374=) single nucleotide variant Likely benign rs144057094 GRCh37 Chromosome 17, 38785151: 38785151
28 SMARCE1 NM_003079.4(SMARCE1): c.1122C> T (p.Val374=) single nucleotide variant Likely benign rs144057094 GRCh38 Chromosome 17, 40628899: 40628899
29 SMARCE1 NM_003079.4(SMARCE1): c.1079G> A (p.Gly360Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142193069 GRCh37 Chromosome 17, 38785194: 38785194
30 SMARCE1 NM_003079.4(SMARCE1): c.1079G> A (p.Gly360Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142193069 GRCh38 Chromosome 17, 40628942: 40628942
31 SMARCE1 NM_003079.4(SMARCE1): c.597C> T (p.Asn199=) single nucleotide variant Likely benign rs878854604 GRCh37 Chromosome 17, 38788564: 38788564
32 SMARCE1 NM_003079.4(SMARCE1): c.597C> T (p.Asn199=) single nucleotide variant Likely benign rs878854604 GRCh38 Chromosome 17, 40632312: 40632312
33 SMARCE1 NM_003079.4(SMARCE1): c.525delT (p.Ala176Leufs) deletion Pathogenic rs878854603 GRCh37 Chromosome 17, 38792199: 38792199
34 SMARCE1 NM_003079.4(SMARCE1): c.525delT (p.Ala176Leufs) deletion Pathogenic rs878854603 GRCh38 Chromosome 17, 40635947: 40635947
35 SMARCE1 NM_003079.4(SMARCE1): c.484T> A (p.Ser162Thr) single nucleotide variant Uncertain significance rs878854602 GRCh37 Chromosome 17, 38792240: 38792240
36 SMARCE1 NM_003079.4(SMARCE1): c.484T> A (p.Ser162Thr) single nucleotide variant Uncertain significance rs878854602 GRCh38 Chromosome 17, 40635988: 40635988
37 SMARCE1 NM_003079.4(SMARCE1): c.351C> T (p.Asn117=) single nucleotide variant Benign/Likely benign rs149613910 GRCh37 Chromosome 17, 38792665: 38792665
38 SMARCE1 NM_003079.4(SMARCE1): c.351C> T (p.Asn117=) single nucleotide variant Benign/Likely benign rs149613910 GRCh38 Chromosome 17, 40636413: 40636413
39 SMARCE1 NM_003079.4(SMARCE1): c.331G> C (p.Glu111Gln) single nucleotide variant Uncertain significance rs878854601 GRCh37 Chromosome 17, 38792685: 38792685
40 SMARCE1 NM_003079.4(SMARCE1): c.331G> C (p.Glu111Gln) single nucleotide variant Uncertain significance rs878854601 GRCh38 Chromosome 17, 40636433: 40636433
41 SMARCE1 NM_003079.4(SMARCE1): c.300T> A (p.Ile100=) single nucleotide variant Likely benign rs143363725 GRCh37 Chromosome 17, 38792716: 38792716
42 SMARCE1 NM_003079.4(SMARCE1): c.300T> A (p.Ile100=) single nucleotide variant Likely benign rs143363725 GRCh38 Chromosome 17, 40636464: 40636464
43 SMARCE1 NM_003079.4(SMARCE1): c.135G> A (p.Pro45=) single nucleotide variant Likely benign rs148373393 GRCh38 Chromosome 17, 40642476: 40642476
44 SMARCE1 NM_003079.4(SMARCE1): c.135G> A (p.Pro45=) single nucleotide variant Likely benign rs148373393 GRCh37 Chromosome 17, 38798728: 38798728
45 SMARCE1 NM_003079.4(SMARCE1): c.1016C> T (p.Pro339Leu) single nucleotide variant Uncertain significance rs1060501398 GRCh38 Chromosome 17, 40630725: 40630725
46 SMARCE1 NM_003079.4(SMARCE1): c.1016C> T (p.Pro339Leu) single nucleotide variant Uncertain significance rs1060501398 GRCh37 Chromosome 17, 38786977: 38786977
47 SMARCE1 NM_003079.4(SMARCE1): c.945G> A (p.Gln315=) single nucleotide variant Likely benign rs1060504226 GRCh38 Chromosome 17, 40630796: 40630796
48 SMARCE1 NM_003079.4(SMARCE1): c.945G> A (p.Gln315=) single nucleotide variant Likely benign rs1060504226 GRCh37 Chromosome 17, 38787048: 38787048
49 SMARCE1 NM_003079.4(SMARCE1): c.370-6T> C single nucleotide variant Uncertain significance rs1060501397 GRCh38 Chromosome 17, 40636108: 40636108
50 SMARCE1 NM_003079.4(SMARCE1): c.370-6T> C single nucleotide variant Uncertain significance rs1060501397 GRCh37 Chromosome 17, 38792360: 38792360

Cosmic variations for Meningioma, Familial:

9
(show top 50) (show all 6958)
# 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 COSM22000 NF2 meninges,NS,meningioma,meningothelial c.784C>T p.R262* 22:29661313-29661313 24
4 COSM22240 NF2 meninges,NS,meningioma,meningothelial c.634C>T p.Q212* 22:29658223-29658223 24
5 COSM22306 NF2 meninges,NS,meningioma,meningothelial c.600-3C>G p.? 22:29658186-29658186 24
6 COSM22301 NF2 meninges,NS,meningioma,meningothelial c.1340+1G>A p.? 22:29673487-29673487 24
7 COSM22273 NF2 meninges,NS,meningioma,meningothelial c.1341-1G>A p.? 22:29674835-29674835 24
8 COSM86033 NF2 meninges,NS,meningioma,meningothelial c.1264G>T p.E422* 22:29673410-29673410 24
9 COSM22294 NF2 meninges,NS,meningioma,meningothelial c.551G>A p.W184* 22:29655628-29655628 24
10 COSM22339 NF2 meninges,NS,meningioma,meningothelial c.364-1G>C p.? 22:29642201-29642201 24
11 COSM23845 NF2 meninges,NS,meningioma,meningothelial c.552G>A p.W184* 22:29655629-29655629 24
12 COSM22210 NF2 meninges,NS,meningioma,meningothelial c.1198C>T p.Q400* 22:29673344-29673344 24
13 COSM49112 NF2 meninges,NS,meningioma,meningothelial c.517-1G>A p.? 22:29655593-29655593 24
14 COSM49113 NF2 meninges,NS,meningioma,meningothelial c.955C>T p.Q319* 22:29668402-29668402 24
15 COSM24552 NF2 meninges,NS,meningioma,meningothelial c.1341-2A>G p.? 22:29674834-29674834 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 11
32 COSM5702574 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 11
33 COSM5702592 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 11
34 COSM40802 ZW10 central nervous system,brain,glioma,NS c.2140C>T p.P714S 11:113736699-113736699 7
35 COSM40801 ZSWIM4 central nervous system,brain,glioma,NS c.266C>T p.P89L 19:13799832-13799832 7
36 COSM6932117 ZRSR2 central nervous system,brain,glioma,NS c.271G>A p.E91K 23:15803755-15803755 7
37 COSM6948317 ZRSR2 central nervous system,brain,glioma,NS c.340C>T p.Q114* 23:15804138-15804138 7
38 COSM6959574 ZRSR2 central nervous system,brain,glioma,NS c.260G>A p.R87K 23:15803744-15803744 7
39 COSM6932118 ZRSR2 central nervous system,brain,glioma,NS c.961C>T p.P321S 23:15822754-15822754 7
40 COSM6973162 ZRSR2 central nervous system,brain,glioma,NS c.220G>A p.E74K 23:15803704-15803704 7
41 COSM39611 ZPLD1 central nervous system,brain,glioma,NS c.393A>T p.G131G 3:102456210-102456210 7
42 COSM40237 ZNF687 central nervous system,brain,glioma,NS c.3651C>T p.T1217T 1:151291146-151291146 7
43 COSM39318 ZNF687 central nervous system,brain,glioma,NS c.2044T>A p.C682S 1:151288335-151288335 7
44 COSM39317 ZNF687 central nervous system,brain,glioma,NS c.2043G>C p.Q681H 1:151288334-151288334 7
45 COSM39149 ZNF507 central nervous system,brain,glioma,NS c.1517G>C p.R506T 19:32354347-32354347 7
46 COSM40794 ZNF473 central nervous system,brain,glioma,NS c.42C>T p.D14D 19:50039193-50039193 7
47 COSM39217 ZMYND8 central nervous system,brain,glioma,NS c.2162T>G p.V721G 20:47246130-47246130 7
48 COSM40504 ZMYND8 central nervous system,brain,glioma,NS c.2176G>A p.D726N 20:47246116-47246116 7
49 COSM5977723 ZMYM2 central nervous system,spinal cord,glioma,NS c.1134-1G>T p.? 13:20005073-20005073 7
50 COSM5977724 ZMYM2 central nervous system,spinal cord,glioma,NS c.1134-1G>T p.? 13:20005073-20005073 7

Copy number variations for Meningioma, Familial from CNVD:

7
# 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
Sources

Expression for Meningioma, Familial

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

Pathways for Meningioma, Familial

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Pathways in cancer 37
12.45 AKT1 ESR1 NOS2 PDGFB PTEN SUFU
2
Prolactin Signaling Pathway 1 37
Show member pathways
 12.28 AKT1 ESR1 NOS2 PTEN
3
MicroRNAs in cancer 37
12.2 MIR200A PDGFB PTEN RDX VIM
4
Gastric cancer 37
Show member pathways
 12.1 AKT1 ESR1 PGR PTEN SMARCB1 SMARCE1
5
AMPK Enzyme Complex Pathway 64
Show member pathways
 11.9 AKT1 NOS2 SMARCB1 SMARCE1
6
Small cell lung cancer 37
11.65 AKT1 NOS2 PTEN
7
Androgen receptor signaling pathway 1
11.63 AKT1 PTEN SMARCE1
8
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.55 GFAP PDGFB VIM
9
Glioblastoma Multiforme 64
11.5 AKT1 NF2 PDGFB PTEN
10
Transcription Ligand-dependent activation of the ESR1/SP pathway 22
Show member pathways
 11.48 ESR1 SMARCB1 SMARCE1
11
Pathways Affected in Adenoid Cystic Carcinoma 1
11.43 AKT1 PTEN SMARCE1
12
PDGFR-beta signaling pathway 1
11.31 AKT1 PDGFB PTEN
13
Primary Focal Segmental Glomerulosclerosis FSGS 1
10.79 AKT1 MKI67 PCNA VIM
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 SWI/SNF complex GO:0016514 9.16 SMARCB1 SMARCE1
2 nBAF complex GO:0071565 8.96 SMARCB1 SMARCE1
3 npBAF complex GO:0071564 8.62 SMARCB1 SMARCE1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.83 AKT1 PDGFB PTEN RDX VIM
2 positive regulation of blood vessel endothelial cell migration GO:0043536 9.54 AKT1 MIR200A PDGFB
3 nitric oxide biosynthetic process GO:0006809 9.49 AKT1 NOS2
4 Bergmann glial cell differentiation GO:0060020 9.48 GFAP VIM
5 interleukin-18-mediated signaling pathway GO:0035655 9.46 AKT1 PDGFB
6 positive regulation of DNA binding transcription factor activity GO:0051091 9.46 AKT1 ESR1 PTEN SMARCB1
7 paracrine signaling GO:0038001 9.4 PDGFB PGR
8 negative regulation of gene expression GO:0010629 9.35 AKT1 ESR1 NOS2 PDGFB PGR
9 cellular response to decreased oxygen levels GO:0036294 9.32 AKT1 PTEN
10 intermediate filament-based process GO:0045103 9.26 GFAP VIM
11 negative regulation of cell size GO:0045792 8.8 AKT1 PTEN RDX

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 9.5 EPB41L3 NF2 RDX
2 ATPase binding GO:0051117 9.43 ESR1 PGR RDX
3 platelet-derived growth factor receptor binding GO:0005161 9.37 PDGFB PTEN
4 enzyme binding GO:0019899 9.35 AKT1 ESR1 PCNA PGR PTEN
5 identical protein binding GO:0042802 9.23 AKT1 ESR1 GFAP PCNA PDGFB PGR
6 nitric-oxide synthase regulator activity GO:0030235 9.16 AKT1 ESR1
Sources

Sources for Meningioma, Familial

About this section
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
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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