MCID: GLM040
MIFTS: 51

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 53 28
Glioblastoma Multiforme 71 69
Glioblastoma, Somatic 53 13
Oligodendroglioma 71 69
Astrocytoma 71 69
Glioma 71 69
Glm1 53 71
Well Differentiated Oligodendroglioma 69
Glioma, Susceptibility to, Somatic 53
Familial Glioma of Brain 71
Glioma Somatic 53
Glioblastoma 69
Glioma 1 71
Gbm 71
Glm 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant
somatic mutation

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


HPO:

31
glioma susceptibility 1:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



Summaries for Glioma Susceptibility 1

OMIM : 53 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 anaplastic oligodendroglioma, and has symptoms including ependymoma, astrocytoma and glioblastoma multiforme. An important gene associated with Glioma Susceptibility 1 is ERBB2 (Erb-B2 Receptor Tyrosine Kinase 2), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Factors involved in megakaryocyte development and platelet production. Affiliated tissues include brain and spinal cord.

UniProtKB/Swiss-Prot : 71 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 123)
# Related Disease Score Top Affiliating Genes
1 glioblastoma multiforme 33.9 ERBB2 IDH1 TP53
2 anaplastic oligodendroglioma 33.6 IDH1 IDH2
3 grade iii astrocytoma 33.5 IDH2 TP53
4 cerebellar astrocytoma 33.4 IDH1 TP53
5 oligodendroglioma 33.3 IDH1 IDH2 TP53
6 protoplasmic astrocytoma 33.2 IDH2 TP53
7 spinal cord astrocytoma 32.5 H3F3A IDH1 TP53
8 fibrillary astrocytoma 32.3 H3F3A IDH1 IDH2 TP53
9 diffuse intrinsic pontine glioma 29.4 H3F3A HIST1H3A
10 glioblastoma 29.1 ERBB2 IDH1 IDH2 TP53
11 glioma 27.5 ERBB2 H3F3A HIST1H3A IDH1 IDH2 TP53
12 astrocytoma 12.6
13 pilocytic astrocytoma 12.4
14 brain glioblastoma multiforme 12.4
15 subependymal giant cell astrocytoma 12.3
16 melanoma-astrocytoma syndrome 12.3
17 adult spinal cord glioblastoma multiforme 12.2
18 childhood oligodendroglioma 12.1
19 spinal cord oligodendroglioma 12.1
20 brain oligodendroglioma 12.1
21 corpus callosum oligodendroglioma 12.1
22 gemistocytic astrocytoma 12.0
23 pilomyxoid astrocytoma 12.0
24 juvenile pilocytic astrocytoma 12.0
25 pilocytic astrocytoma of cerebellum 12.0
26 juvenile astrocytoma 12.0
27 optic nerve astrocytoma 12.0
28 childhood pilocytic astrocytoma 12.0
29 goodpasture syndrome 12.0
30 diencephalic astrocytomas 12.0
31 mixed oligodendroglioma-astrocytoma 12.0
32 desmoplastic infantile astrocytoma 11.9
33 childhood cerebral astrocytoma 11.9
34 desmoplastic infantile astrocytoma/ganglioglioma 11.9
35 childhood optic tract astrocytoma 11.8
36 mixed astrocytoma-ependymoma 11.8
37 pineal gland astrocytoma 11.8
38 adult brainstem astrocytoma 11.8
39 childhood brainstem astrocytoma 11.8
40 mixed astrocytoma-ependymoma-oligodendroglioma 11.8
41 cauda equina intradural extramedullary astrocytoma 11.7
42 cerebellar astrocytoma, childhood 11.7
43 oligoastrocytoma 11.7
44 tuberous sclerosis 11.3
45 uterine corpus serous adenocarcinoma 10.3 ERBB2 TP53
46 non-proliferative fibrocystic change of the breast 10.3 ERBB2 TP53
47 fallopian tube adenocarcinoma 10.3 ERBB2 TP53
48 uterine body mixed cancer 10.3 ERBB2 TP53
49 pleomorphic adenoma carcinoma 10.3 ERBB2 TP53
50 oral leukoplakia 10.3 ERBB2 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:

53
Neoplasia:
astrocytomas
glioblastoma multiforme
oligodendrogliomas
ependymomas
subependymomas


Clinical features from OMIM:

137800

Human phenotypes related to Glioma Susceptibility 1:

31
# Description HPO Frequency HPO Source Accession
1 ependymoma 31 HP:0002888
2 astrocytoma 31 HP:0009592
3 glioblastoma multiforme 31 HP:0012174

UMLS symptoms related to Glioma Susceptibility 1:


seizures, headache

Drugs & Therapeutics for Glioma Susceptibility 1

Search Clinical Trials , NIH Clinical Center for Glioma Susceptibility 1

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Glioma Susceptibility 1

Genetic tests related to Glioma Susceptibility 1:

# Genetic test Affiliating Genes
1 Glioma Susceptibility 1 28 ERBB2 IDH1 TP53

Anatomical Context for Glioma Susceptibility 1

MalaCards organs/tissues related to Glioma Susceptibility 1:

38
Brain, Spinal Cord

Publications for Glioma Susceptibility 1

Articles related to Glioma Susceptibility 1:

(show top 50) (show all 833)
# Title Authors Year
1
Cucurbitacin B induces inhibitory effects via CIP2A/PP2A/Akt pathway in glioblastoma multiforme. ( 29393542 )
2018
2
Hyaluronic Acid-Modified Micelles Encapsulating Gem-C<sub>12</sub>and HNK for Glioblastoma Multiforme Chemotherapy. ( 29397747 )
2018
3
ATM and p53 combined analysis predicts survival in glioblastoma multiforme patients: a clinicopathologic study. ( 29369420 )
2018
4
Glioblastoma multiforme: another potential application for<sup>68</sup>Ga-PSMA PET/CT as a guide for targeted therapy. ( 29387926 )
2018
5
Stereotactic Radiosurgery in the Multimodality Management of Residual or Recurrent Glioblastoma Multiforme. ( 29393176 )
2018
6
Cell biology of glioblastoma multiforme: from basic science to diagnosis and treatment. ( 29387965 )
2018
7
Inhibition of GLO1 in Glioblastoma Multiforme Increases DNA-AGEs, Stimulates RAGE Expression, and Inhibits Brain Tumor Growth in Orthotopic Mouse Models. ( 29385725 )
2018
8
Development of an exercise intervention as part of rehabilitation in a glioblastoma multiforme survivor during irradiation treatment: a case report. ( 29382243 )
2018
9
Semantic imaging features predict disease progression and survival in glioblastoma multiforme patients. ( 29442128 )
2018
10
Management of Elderly patients with Glioblastoma - Multiforme. ( 29376741 )
2018
11
CircSMARCA5 Inhibits Migration of Glioblastoma Multiforme Cells by Regulating a Molecular Axis Involving Splicing Factors SRSF1/SRSF3/PTB. ( 29415469 )
2018
12
Early candidate biomarkers found from urine of glioblastoma multiforme rat before changes in MRI. ( 29372508 )
2018
13
Reactive Astrocytes in Glioblastoma Multiforme. ( 29363044 )
2018
14
Does radiation therapy increase gadolinium accumulation in the brain?: Quantitative analysis of T1 shortening using R1 relaxometry in glioblastoma multiforme patients. ( 29444157 )
2018
15
New aspects of glioblastoma multiforme revealed by similarities between neural and glioblastoma stem cells. ( 29383547 )
2018
16
Galectin-1 is a poor prognostic factor in patients with glioblastoma multiforme after radiotherapy. ( 29378529 )
2018
17
Comparative proteomics as a tool for identifying specific alterations within interferon response pathways in human glioblastoma multiforme cells. ( 29416731 )
2018
18
DNM3, p65 and p53 from exosomes represent potential clinical diagnosis markers for glioblastoma multiforme. ( 29449895 )
2017
19
A 4-miRNAs signature predicts survival in glioblastoma multiforme patients. ( 28869437 )
2017
20
Augmented expression of RUNX1 deregulates the global gene expression of U87 glioblastoma multiforme cells and inhibits tumor growth in mice. ( 28443460 )
2017
21
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
22
Advances in the targeting of HIF-1I+ and future therapeutic strategies for glioblastoma multiforme (Review). ( 27959421 )
2017
23
MiR-429 suppresses glioblastoma multiforme by targeting SOX2. ( 28749077 )
2017
24
Type 5 phosphodiesterase regulates glioblastoma multiforme aggressiveness and clinical outcome. ( 28099939 )
2017
25
MALAT1 is a prognostic factor in glioblastoma multiforme and induces chemoresistance to temozolomide through suppressing miR-203 and promoting thymidylate synthase expression. ( 28187000 )
2017
26
Biomarkers and therapeutic advances in glioblastoma multiforme. ( 28840962 )
2017
27
Amplification of the EGFR gene can be maintained and modulated by variation of EGF concentrations in in vitro models of glioblastoma multiforme. ( 28934307 )
2017
28
The SGK1 Kinase Inhibitor SI113 Sensitizes Theranostic Effects of the 64CuCl2 in Human Glioblastoma Multiforme Cells. ( 28848088 )
2017
29
Upregulation of miR-181a suppresses the formation of glioblastoma stem cells by targeting the Notch2 oncogene and correlates with good prognosis in patients with glioblastoma multiforme. ( 28389242 )
2017
30
MicroRNA signatures predict prognosis of patients with glioblastoma multiforme through the Cancer Genome Atlas. ( 28938564 )
2017
31
Role of miR-223/paired box 6 signaling in temozolomide chemoresistance in glioblastoma multiforme cells. ( 28035389 )
2017
32
Natural Bioactive Compounds: Alternative Approach to the Treatment of Glioblastoma Multiforme. ( 29359162 )
2017
33
Advances in Experimental Targeted Therapy and Immunotherapy for Patients with Glioblastoma Multiforme. ( 28011470 )
2017
34
Valproic acid inhibits glioblastoma multiforme cell growth via paraoxonase 2 expression. ( 28108734 )
2017
35
Topotecan is a potent inhibitor of SUMOylation in glioblastoma multiforme and alters both cellular replication and metabolic programming. ( 28785061 )
2017
36
Treatment outcome of patients with recurrent glioblastoma multiforme: a retrospective multicenter analysis. ( 28730289 )
2017
37
Lumbosacral Subdural Hematoma After Glioblastoma Multiforme Resection: Possible Radiographic Evidence for the Downward Migration of Intracranial Blood. ( 28890010 )
2017
38
Development of an integrated Monte Carlo model for glioblastoma multiforme treated with boron neutron capture therapy. ( 28765533 )
2017
39
Up-regulated microRNA-299 corrected with poor prognosis of glioblastoma multiforme patients by targeting ELL2. ( 28531325 )
2017
40
Metachronous Development of Meningothelial Meningioma, Basal Cell Carcinoma, and Glioblastoma Multiforme in a Patient with Pancreatic Incidentaloma. ( 29279708 )
2017
41
Re-irradiation for recurrent glioblastoma multiforme. ( 28841798 )
2017
42
Differentiation between progression and pseudoprogresion by arterial spin labeling MRI in patients with glioblastoma multiforme. ( 28952228 )
2017
43
Role of Intra-operative MRI (iMRI) in Improving Extent of Resection and Survival in Patients with Glioblastoma Multiforme. ( 28770902 )
2017
44
Functional differences between PD-1+ and PD-1- CD4+ effector T cells in healthy donors and patients with glioblastoma multiforme. ( 28880903 )
2017
45
Heterogeneity of tumor-infiltrating lymphocytes ascribed to local immune status rather than neoantigens by multi-omics analysis of glioblastoma multiforme. ( 28761058 )
2017
46
Primary Spinal Cord Glioblastoma Multiforme: A Rare but Uniformly Fatal Neoplasm. ( 28732416 )
2017
47
Metformin and temozolomide, a synergic option to overcome resistance in glioblastoma multiforme models. ( 29348889 )
2017
48
A Deep Learning-Based Radiomics Model for Prediction of Survival in Glioblastoma Multiforme. ( 28871110 )
2017
49
IQGAP1 in Podosomes/Invadosomes Is Involved in the Progression of Glioblastoma Multiforme Depending on the Tumor Status. ( 28098764 )
2017
50
Accelerated Hypofractionated Radiotherapy in the Era of Concurrent Temozolomide Chemotherapy in Elderly Patients with Glioblastoma Multiforme. ( 28775928 )
2017

Variations for Glioma Susceptibility 1

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

71
# 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 (show all 11)
# 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 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121918464 GRCh37 Chromosome 12, 112888210: 112888210
3 PTPN11 NM_002834.4(PTPN11): c.227A> G (p.Glu76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121918465 GRCh37 Chromosome 12, 112888211: 112888211
4 PTPN11 NM_002834.4(PTPN11): c.227A> C (p.Glu76Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121918465 GRCh37 Chromosome 12, 112888211: 112888211
5 ERBB2 NM_001005862.2(ERBB2): c.2650G> A (p.Glu884Lys) single nucleotide variant Pathogenic rs28933368 GRCh37 Chromosome 17, 37881974: 37881974
6 TP53 NM_000546.5(TP53): c.542G> T (p.Arg181Leu) single nucleotide variant risk factor rs397514495 GRCh37 Chromosome 17, 7578388: 7578388
7 IDH1 NM_001282386.1(IDH1): c.395G> A (p.Arg132His) single nucleotide variant Pathogenic/Likely pathogenic rs121913500 GRCh38 Chromosome 2, 208248388: 208248388
8 FGFR1 NM_023110.2(FGFR1): c.1638C> A (p.Asn546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs779707422 GRCh37 Chromosome 8, 38274849: 38274849
9 FGFR1 NM_023110.2(FGFR1): c.1966A> G (p.Lys656Glu) single nucleotide variant Pathogenic/Likely pathogenic rs869320694 GRCh37 Chromosome 8, 38272308: 38272308
10 IDH1 NM_001282387.1(IDH1): c.394C> T (p.Arg132Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 GRCh37 Chromosome 2, 209113113: 209113113
11 IDH1 NM_001282387.1(IDH1): c.394C> A (p.Arg132Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 GRCh37 Chromosome 2, 209113113: 209113113

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 8.96 H3F3A HIST1H3A
2 nuclear nucleosome GO:0000788 8.62 H3F3A HIST1H3A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene silencing by miRNA GO:0060964 9.49 H3F3A HIST1H3A
2 positive regulation of cell growth GO:0030307 9.48 ERBB2 H3F3A
3 regulation of megakaryocyte differentiation GO:0045652 9.46 H3F3A HIST1H3A
4 positive regulation of gene expression, epigenetic GO:0045815 9.43 H3F3A HIST1H3A
5 negative regulation of gene expression, epigenetic GO:0045814 9.4 H3F3A HIST1H3A
6 chromatin silencing at rDNA GO:0000183 9.37 H3F3A HIST1H3A
7 tricarboxylic acid cycle GO:0006099 9.32 IDH1 IDH2
8 telomere organization GO:0032200 9.26 H3F3A HIST1H3A
9 2-oxoglutarate metabolic process GO:0006103 9.16 IDH1 IDH2
10 isocitrate metabolic process GO:0006102 8.96 IDH1 IDH2
11 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 9.46 ERBB2 H3F3A HIST1H3A TP53
2 protein phosphatase binding GO:0019903 9.4 ERBB2 TP53
3 nucleosomal DNA binding GO:0031492 9.37 H3F3A HIST1H3A
4 NAD binding GO:0051287 9.32 IDH1 IDH2
5 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.26 IDH1 IDH2
6 isocitrate dehydrogenase activity GO:0004448 8.96 IDH1 IDH2
7 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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