MCID: GLM040
MIFTS: 52

Glioma Susceptibility 1

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Glioma Susceptibility 1

MalaCards integrated aliases for Glioma Susceptibility 1:

Name: Glioma Susceptibility 1 57 29 6
Glioblastoma Multiforme 75 73
Glioblastoma, Somatic 57 13
Oligodendroglioma 75 73
Astrocytoma 75 73
Glioma 75 73
Glm1 57 75
Well Differentiated Oligodendroglioma 73
Glioma, Susceptibility to, Somatic 57
Glioma, Susceptibility, Type 1 40
Familial Glioma of Brain 75
Glioma Somatic 57
Glioblastoma 73
Glioma 1 75
Gbm 75
Glm 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
gliomas may occur in association with other hereditary tumor syndromes (see )


HPO:

32
glioma susceptibility 1:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



Summaries for Glioma Susceptibility 1

OMIM : 57 Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010). Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003). Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994). Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (276300), melanoma-astrocytoma syndrome (155755), neurofibromatosis-1 (NF1; 162200) and NF2 (101000), and tuberous sclerosis (TSC1; 191100). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. (137800)

MalaCards based summary : Glioma Susceptibility 1, also known as glioblastoma multiforme, is related to glioblastoma multiforme and adult oligodendroglioma, and has symptoms including headache and seizures. An important gene associated with Glioma Susceptibility 1 is ERBB2 (Erb-B2 Receptor Tyrosine Kinase 2), and among its related pathways/superpathways are Glucose / Energy Metabolism and Factors involved in megakaryocyte development and platelet production. Affiliated tissues include brain, spinal cord and endothelial, and related phenotypes are ependymoma and astrocytoma

UniProtKB/Swiss-Prot : 75 Glioma: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.

Related Diseases for Glioma Susceptibility 1

Diseases in the Glioma Susceptibility 1 family:

Glioma Susceptibility 4 Glioma Susceptibility 2
Glioma Susceptibility 3 Glioma Susceptibility 5
Glioma Susceptibility 6 Glioma Susceptibility 7
Glioma Susceptibility 8 Glioma Susceptibility 9

Diseases related to Glioma Susceptibility 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 glioblastoma multiforme 33.4 ERBB2 IDH1 PPARG TP53
2 adult oligodendroglioma 33.1 IDH1 IDH2
3 oligodendroglioma 33.0 IDH1 IDH2 TP53
4 diffuse intrinsic pontine glioma 29.6 H3F3A HIST1H3A
5 glioblastoma 26.3 ERBB2 H3F3A IDH1 IDH2 PPARG TP53
6 glioma 25.7 ERBB2 H3F3A HIST1H3A IDH1 IDH2 PPARG
7 brain glioblastoma multiforme 12.4
8 adult spinal cord glioblastoma multiforme 12.2
9 anaplastic oligodendroglioma 12.1
10 childhood oligodendroglioma 12.1
11 spinal cord oligodendroglioma 12.1
12 corpus callosum oligodendroglioma 12.1
13 brain oligodendroglioma 12.1
14 mixed oligodendroglioma-astrocytoma 12.1
15 goodpasture syndrome 11.9
16 mixed astrocytoma-ependymoma-oligodendroglioma 11.9
17 oligoastrocytoma 11.8
18 gallbladder squamous cell carcinoma 10.7 ERBB2 TP53
19 gastric papillary adenocarcinoma 10.7 ERBB2 TP53
20 uterine corpus serous adenocarcinoma 10.7 ERBB2 TP53
21 non-proliferative fibrocystic change of the breast 10.6 ERBB2 TP53
22 pleomorphic adenoma carcinoma 10.6 ERBB2 TP53
23 fallopian tube adenocarcinoma 10.6 ERBB2 TP53
24 uterine body mixed cancer 10.6 ERBB2 TP53
25 breast squamous cell carcinoma 10.6 ERBB2 TP53
26 oral leukoplakia 10.6 ERBB2 TP53
27 microglandular adenosis 10.6 ERBB2 TP53
28 uterine corpus cancer 10.6 ERBB2 TP53
29 breast benign neoplasm 10.6 ERBB2 TP53
30 thoracic benign neoplasm 10.6 ERBB2 TP53
31 esophagus adenocarcinoma 10.6 ERBB2 TP53
32 mixed cell type cancer 10.6 ERBB2 TP53
33 ovary adenocarcinoma 10.6 ERBB2 TP53
34 granulosa cell tumor of the ovary 10.6 ERBB2 TP53
35 hidradenocarcinoma 10.6 ERBB2 TP53
36 primary peritoneal carcinoma 10.5 ERBB2 TP53
37 pre-malignant neoplasm 10.5 ERBB2 TP53
38 fallopian tube carcinoma 10.5 ERBB2 TP53
39 papillary adenocarcinoma 10.5 ERBB2 TP53
40 barrett's adenocarcinoma 10.5 ERBB2 TP53
41 cerebellar astrocytoma 10.5 IDH1 TP53
42 sweat gland cancer 10.5 ERBB2 TP53
43 bladder squamous cell carcinoma 10.5 ERBB2 TP53
44 mixed glioma 10.5 IDH1 TP53
45 in situ carcinoma 10.5 ERBB2 TP53
46 ovarian cancer 1 10.5 ERBB2 TP53
47 malignant ovarian surface epithelial-stromal neoplasm 10.4 ERBB2 TP53
48 periosteal osteogenic sarcoma 10.4 IDH1 TP53
49 ovary epithelial cancer 10.4 ERBB2 TP53
50 pleomorphic xanthoastrocytoma 10.4 IDH1 TP53

Graphical network of the top 20 diseases related to Glioma Susceptibility 1:



Diseases related to Glioma Susceptibility 1

Symptoms & Phenotypes for Glioma Susceptibility 1

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
astrocytomas
glioblastoma multiforme
oligodendrogliomas
ependymomas
subependymomas


Clinical features from OMIM:

137800

Human phenotypes related to Glioma Susceptibility 1:

32
# Description HPO Frequency HPO Source Accession
1 ependymoma 32 HP:0002888
2 astrocytoma 32 HP:0009592
3 glioblastoma multiforme 32 HP:0012174

UMLS symptoms related to Glioma Susceptibility 1:


headache, seizures

Drugs & Therapeutics for Glioma Susceptibility 1

Search Clinical Trials , NIH Clinical Center for Glioma Susceptibility 1

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


Genetic Tests for Glioma Susceptibility 1

Genetic tests related to Glioma Susceptibility 1:

# Genetic test Affiliating Genes
1 Glioma Susceptibility 1 29 ERBB2 IDH1 TP53

Anatomical Context for Glioma Susceptibility 1

MalaCards organs/tissues related to Glioma Susceptibility 1:

41
Brain, Spinal Cord, Endothelial, Bone, T Cells, Lung, Prostate

Publications for Glioma Susceptibility 1

Articles related to Glioma Susceptibility 1:

(show top 50) (show all 876)
# Title Authors Year
1
Glioblastoma multiforme subterfuge as acute cerebral hemorrhage: A case report and literature review. ( 29844891 )
2018
2
Evaluation of the relationship of erythrocyte membrane Na+/K+-ATPase enzyme activity and tumor response to chemoradiotherapy in patients diagnosed with locally advanced nonsmall cell lung cancer and glioblastoma multiforme. ( 29970705 )
2018
3
Benzyl isothiocyanate inhibits human brain glioblastoma multiforme GBM 8401 cell xenograft tumor in nude mice in vivo. ( 29972272 )
2018
4
High-dose fotemustine in temozolomide-pretreated glioblastoma multiforme patients: A phase I/II trial. ( 29979390 )
2018
5
Venous thromboembolic complications with and without intermittent intraoperative and postoperative pneumatic compression in patients with glioblastoma multiforme using intraoperative magnetic resonance imaging. A retrospective study. ( 29859696 )
2018
6
Inhibition of GLO1 in Glioblastoma Multiforme Increases DNA-AGEs, Stimulates RAGE Expression, and Inhibits Brain Tumor Growth in Orthotopic Mouse Models. ( 29385725 )
2018
7
Prognostic stratification of adult primary glioblastoma multiforme patients based on their tumor gene amplification profiles. ( 29963263 )
2018
8
microRNAa89574 inhibits cell proliferation and invasion in glioblastoma multiforme by directly targeting zinc finger Ea89boxa89binding homeobox 1. ( 29901177 )
2018
9
Specifically Targeted Electromagnetic Fields Arrest Proliferation of Glioblastoma Multiforme U-87 Cells in Culture. ( 29848672 )
2018
10
A case of subgaleal metastasis from glioblastoma multiforme. ( 29898273 )
2018
11
Does radiation therapy increase gadolinium accumulation in the brain?: Quantitative analysis of T1 shortening using R1 relaxometry in glioblastoma multiforme patients. ( 29444157 )
2018
12
Mutant cytoskeletal and ECM peptides sensitive to the ST14 protease are associated with a worse outcome for glioblastoma multiforme. ( 29953855 )
2018
13
Platelet activation parameters and platelet-leucocyte-conjugate formation in glioblastoma multiforme patients. ( 29899827 )
2018
14
Comparative proteomics as a tool for identifying specific alterations within interferon response pathways in human glioblastoma multiforme cells. ( 29416731 )
2018
15
Hyaluronic Acid-Modified Micelles Encapsulating Gem-C<sub>12</sub>and HNK for Glioblastoma Multiforme Chemotherapy. ( 29397747 )
2018
16
Early candidate biomarkers found from urine of glioblastoma multiforme rat before changes in MRI. ( 29372508 )
2018
17
Enhanced radiosensitization of human glioblastoma multiforme cells with phosphorylated peptides derived from Gli2. ( 29880393 )
2018
18
Semantic imaging features predict disease progression and survival in glioblastoma multiforme patients. ( 29442128 )
2018
19
Cell biology of glioblastoma multiforme: from basic science to diagnosis and treatment. ( 29387965 )
2018
20
A Rare Case of Concurrent Herpes Simplex Encephalitis and Glioblastoma Multiforme. ( 29492128 )
2018
21
Long-term follow-up results of concomitant chemoradiotherapy followed by adjuvant temozolomide therapy for glioblastoma multiforme patients. The importance of MRI information in survival: Single-center experience. ( 29889468 )
2018
22
Glioblastoma multiforme: another potential application for<sup>68</sup>Ga-PSMA PET/CT as a guide for targeted therapy. ( 29387926 )
2018
23
Reactive Astrocytes in Glioblastoma Multiforme. ( 29363044 )
2018
24
Longevity-Related Gene Transcriptomic Signature in Glioblastoma Multiforme. ( 29849920 )
2018
25
ATM and p53 combined analysis predicts survival in glioblastoma multiforme patients: a clinicopathologic study. ( 29369420 )
2018
26
Glioblastoma Multiforme: Fewer Tumor Copy Number Segments of the <i>SGK1</i> Gene Are Associated with Poorer Survival. ( 29976632 )
2018
27
Galectin-1 is a poor prognostic factor in patients with glioblastoma multiforme after radiotherapy. ( 29378529 )
2018
28
High expression of a novel splicing variant of VEGF, L-VEGF144 in glioblastoma multiforme is associated with a poorer prognosis in bevacizumab treatment. ( 29909500 )
2018
29
Predictors of Response to Autologous Dendritic Cell Therapy in Glioblastoma Multiforme. ( 29910795 )
2018
30
CircSMARCA5 Inhibits Migration of Glioblastoma Multiforme Cells by Regulating a Molecular Axis Involving Splicing Factors SRSF1/SRSF3/PTB. ( 29415469 )
2018
31
A Non-randomized Controlled Trial of EMDR on Affective Symptoms in Patients With Glioblastoma Multiforme. ( 29892240 )
2018
32
Cucurbitacin B induces inhibitory effects via CIP2A/PP2A/Akt pathway in glioblastoma multiforme. ( 29393542 )
2018
33
Management of Elderly patients with Glioblastoma - Multiforme. ( 29376741 )
2018
34
Cancer stem cells from peritumoral tissue of glioblastoma multiforme: the possible missing link between tumor development and progression. ( 29963265 )
2018
35
Carbonic anhydrase IX is a prognostic biomarker in glioblastoma multiforme. ( 29952031 )
2018
36
New Tetrahydroisoquinoline Derivatives Overcome Pgp Activity in Brain-Blood Barrier and Glioblastoma Multiforme in Vitro. ( 29890725 )
2018
37
Development of an exercise intervention as part of rehabilitation in a glioblastoma multiforme survivor during irradiation treatment: a case report. ( 29382243 )
2018
38
Stereotactic Radiosurgery in the Multimodality Management of Residual or Recurrent Glioblastoma Multiforme. ( 29393176 )
2018
39
New aspects of glioblastoma multiforme revealed by similarities between neural and glioblastoma stem cells. ( 29383547 )
2018
40
Topotecan is a potent inhibitor of SUMOylation in glioblastoma multiforme and alters both cellular replication and metabolic programming. ( 28785061 )
2017
41
Natural Bioactive Compounds: Alternative Approach to the Treatment of Glioblastoma Multiforme. ( 29359162 )
2017
42
Differentiation between progression and pseudoprogresion by arterial spin labeling MRI in patients with glioblastoma multiforme. ( 28952228 )
2017
43
MiR-181b modulates chemosensitivity of glioblastoma multiforme cells to temozolomide by targeting the epidermal growth factor receptor. ( 28501897 )
2017
44
Biomarkers and therapeutic advances in glioblastoma multiforme. ( 28840962 )
2017
45
Re-irradiation for recurrent glioblastoma multiforme. ( 28841798 )
2017
46
Role of Intra-operative MRI (iMRI) in Improving Extent of Resection and Survival in Patients with Glioblastoma Multiforme. ( 28770902 )
2017
47
A 4-miRNAs signature predicts survival in glioblastoma multiforme patients. ( 28869437 )
2017
48
MALAT1 is a prognostic factor in glioblastoma multiforme and induces chemoresistance to temozolomide through suppressing miR-203 and promoting thymidylate synthase expression. ( 28187000 )
2017
49
MiR-429 suppresses glioblastoma multiforme by targeting SOX2. ( 28749077 )
2017
50
A continuous-infusion dynamic MRI model at 3.0 Tesla for the serial quantitative evaluation of microvascular proliferation in an animal model of glioblastoma multiforme. ( 28078795 )
2017

Variations for Glioma Susceptibility 1

UniProtKB/Swiss-Prot genetic disease variations for Glioma Susceptibility 1:

75
# Symbol AA change Variation ID SNP ID
1 H3F3A p.Lys28Met VAR_079021
2 H3F3A p.Gly35Arg VAR_079022
3 H3F3A p.Gly35Val VAR_079023
4 HIST1H3A p.Lys28Met VAR_079018
5 IDH2 p.Pro158Leu VAR_073181
6 IDH2 p.Pro162Ser VAR_073182
7 IDH2 p.Arg172Gly VAR_073183
8 IDH2 p.Arg172Lys VAR_073184 rs121913503
9 IDH2 p.Arg172Met VAR_073185

ClinVar genetic disease variations for Glioma Susceptibility 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
2 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh38 Chromosome 17, 7673802: 7673802
3 ERBB2 NM_001005862.2(ERBB2): c.2650G> A (p.Glu884Lys) single nucleotide variant Pathogenic rs28933368 GRCh37 Chromosome 17, 37881974: 37881974
4 ERBB2 NM_001005862.2(ERBB2): c.2650G> A (p.Glu884Lys) single nucleotide variant Pathogenic rs28933368 GRCh38 Chromosome 17, 39725721: 39725721
5 TP53 NM_000546.5(TP53): c.542G> T (p.Arg181Leu) single nucleotide variant risk factor rs397514495 GRCh37 Chromosome 17, 7578388: 7578388
6 TP53 NM_000546.5(TP53): c.542G> T (p.Arg181Leu) single nucleotide variant risk factor rs397514495 GRCh38 Chromosome 17, 7675070: 7675070

Expression for Glioma Susceptibility 1

Search GEO for disease gene expression data for Glioma Susceptibility 1.

Pathways for Glioma Susceptibility 1

GO Terms for Glioma Susceptibility 1

Cellular components related to Glioma Susceptibility 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome GO:0000228 9.16 H3F3A HIST1H3A
2 nuclear nucleosome GO:0000788 8.96 H3F3A HIST1H3A
3 protein-containing complex GO:0032991 8.92 H3F3A HIST1H3A PPARG TP53

Biological processes related to Glioma Susceptibility 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression, epigenetic GO:0045814 9.43 H3F3A HIST1H3A
2 chromatin silencing at rDNA GO:0000183 9.4 H3F3A HIST1H3A
3 tricarboxylic acid cycle GO:0006099 9.37 IDH1 IDH2
4 telomere organization GO:0032200 9.32 H3F3A HIST1H3A
5 2-oxoglutarate metabolic process GO:0006103 9.26 IDH1 IDH2
6 negative regulation of telomerase activity GO:0051974 9.16 PPARG TP53
7 isocitrate metabolic process GO:0006102 8.96 IDH1 IDH2
8 glyoxylate cycle GO:0006097 8.62 IDH1 IDH2

Molecular functions related to Glioma Susceptibility 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.55 ERBB2 H3F3A HIST1H3A PPARG TP53
2 protein self-association GO:0043621 9.46 PPARG TP53
3 nucleosomal DNA binding GO:0031492 9.43 H3F3A HIST1H3A
4 protein phosphatase binding GO:0019903 9.43 ERBB2 PPARG TP53
5 core promoter sequence-specific DNA binding GO:0001046 9.4 PPARG TP53
6 NAD binding GO:0051287 9.37 IDH1 IDH2
7 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.32 IDH1 IDH2
8 isocitrate dehydrogenase activity GO:0004448 8.96 IDH1 IDH2
9 isocitrate dehydrogenase (NADP+) activity GO:0004450 8.62 IDH1 IDH2

Sources for Glioma Susceptibility 1

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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