GLM
MCID: GLM040
MIFTS: 47

Glioma Susceptibility 1 (GLM) malady

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Glioma Susceptibility 1

Aliases & Descriptions for Glioma Susceptibility 1:

Name: Glioma Susceptibility 1 54 29
Glioblastoma Multiforme 66 69
Glioblastoma, Somatic 54 13
Oligodendroglioma 66 69
Astrocytoma 66 69
Glioma 66 69
Well Differentiated Oligodendroglioma 69
Glioma, Susceptibility to, Somatic 24
Glioma, Susceptibility to Somatic 24
Familial Glioma of Brain 66
Glioma Somatic 54
Glioblastoma 69
Glioma 1 66
Glm1 66
Gbm 66
Glm 66

Characteristics:

HPO:

32
glioma susceptibility 1:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



Summaries for Glioma Susceptibility 1

OMIM : 54 Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma... (137800) more...

MalaCards based summary : Glioma Susceptibility 1, also known as glioblastoma multiforme, is related to spinal cord astrocytoma and brain oligodendroglioma, and has symptoms including ependymoma, glioblastoma multiforme and glioblastoma. An important gene associated with Glioma Susceptibility 1 is ERBB2 (Erb-B2 Receptor Tyrosine Kinase 2), and among its related pathways/superpathways are Pancreatic cancer and MAPK Pathway. The drugs Lenograstim and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and skeleton

UniProtKB/Swiss-Prot : 66 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 8 Glioma Susceptibility 9
Glioma Susceptibility 7 Glioma Susceptibility 5
Glioma Susceptibility 2 Glioma Susceptibility 4
Glioma Susceptibility 6

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

(show top 50) (show all 127)
id Related Disease Score Top Affiliating Genes
1 spinal cord astrocytoma 33.0 IDH1 IDH2
2 brain oligodendroglioma 32.9 IDH1 TP53
3 juvenile astrocytoma 32.5 IDH1 TP53
4 pineal gland astrocytoma 32.5 IDH1 TP53
5 glioblastoma multiforme 12.4
6 astrocytoma 12.4
7 oligodendroglioma 12.4
8 pilocytic astrocytoma 12.3
9 brain glioblastoma multiforme 12.3
10 fibrillary astrocytoma 12.3
11 grade iii astrocytoma 12.2
12 subependymal giant cell astrocytoma 12.2
13 adult spinal cord glioblastoma multiforme 12.1
14 anaplastic oligodendroglioma 12.0
15 spinal cord oligodendroglioma 12.0
16 corpus callosum oligodendroglioma 12.0
17 cerebellar astrocytoma 11.9
18 pilomyxoid astrocytoma 11.9
19 gemistocytic astrocytoma 11.9
20 juvenile pilocytic astrocytoma 11.9
21 protoplasmic astrocytoma 11.9
22 optic nerve astrocytoma 11.9
23 childhood pilocytic astrocytoma 11.9
24 pilocytic astrocytoma of cerebellum 11.9
25 mixed oligodendroglioma-astrocytoma 11.8
26 diencephalic astrocytomas 11.8
27 goodpasture syndrome 11.8
28 desmoplastic infantile astrocytoma 11.8
29 childhood cerebral astrocytoma 11.8
30 desmoplastic infantile astrocytoma/ganglioglioma 11.8
31 childhood optic tract astrocytoma 11.7
32 mixed astrocytoma-ependymoma 11.7
33 adult brainstem astrocytoma 11.7
34 childhood brainstem astrocytoma 11.7
35 mixed astrocytoma-ependymoma-oligodendroglioma 11.7
36 cerebellar astrocytoma, childhood 11.6
37 cauda equina intradural extramedullary astrocytoma 11.6
38 oligoastrocytoma 11.6
39 melanoma and neural system tumor syndrome 11.6
40 li-fraumeni syndrome 11.2
41 tuberous sclerosis 11.2
42 optic disk drusen 10.1 IDH1 IDH2
43 enterovesical fistula 10.1 IDH1 IDH2
44 acrocallosal syndrome 10.1 IDH1 IDH2
45 neurilemmoma 10.1 IDH1 IDH2
46 small cell osteogenic sarcoma 10.1 IDH1 IDH2
47 glycogen storage disease type 0 10.1 IDH1 IDH2
48 angioma hereditary neurocutaneous 10.1 IDH1 IDH2
49 neuropathy, ataxia, and retinitis pigmentosa 10.1 IDH1 IDH2
50 breast papillomatosis 10.1 IDH1 IDH2

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 by clinical synopsis from OMIM:

137800

Clinical features from OMIM:

137800

Human phenotypes related to Glioma Susceptibility 1:

32
id Description HPO Frequency HPO Source Accession
1 ependymoma 32 HP:0002888
2 glioblastoma multiforme 32 HP:0012174
3 glioblastoma 32 HP:0100843

UMLS symptoms related to Glioma Susceptibility 1:


headache, seizures

GenomeRNAi Phenotypes related to Glioma Susceptibility 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.5 TP53
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.5 TP53
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.5 IDH1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.5 TP53
5 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.5 IDH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.5 IDH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.5 IDH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.5 TP53
9 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.5 IDH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.5 TP53
11 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.5 TP53
12 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.5 TP53
13 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.5 TP53 IDH1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.5 IDH1

MGI Mouse Phenotypes related to Glioma Susceptibility 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.92 ERBB2 IDH1 IDH2 TP53

Drugs & Therapeutics for Glioma Susceptibility 1

Drugs for Glioma Susceptibility 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved Phase 3 135968-09-1
2 Adjuvants, Immunologic Phase 3
3
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
4
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
5
Copper Approved Phase 2 15158-11-9, 7440-50-8 27099
6
Disulfiram Approved Phase 2 97-77-8 3117
7
Ethanol Approved Phase 2 64-17-5 702
8 Alkylating Agents Phase 2
9 Antineoplastic Agents, Alkylating Phase 2
10
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
11 Protein Kinase Inhibitors Phase 2
12 Micronutrients Phase 2
13 Trace Elements Phase 2
14
Doxorubicin Approved, Investigational Phase 1 23214-92-8 31703
15
Etoposide Approved Phase 1 33419-42-0 36462
16
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
17
Doxil Approved June 1999 Phase 1 31703
18 Anti-Bacterial Agents Phase 1
19 Antibiotics, Antitubercular Phase 1
20 Antineoplastic Agents, Phytogenic Phase 1
21 Etoposide phosphate Phase 1
22 Topoisomerase Inhibitors Phase 1
23 Histone Deacetylase Inhibitors Phase 1
24
Pembrolizumab Approved 1374853-91-4
25
Bevacizumab Approved, Investigational 216974-75-3
26 Ferrosoferric Oxide
27 Hematinics
28 Parenteral Nutrition Solutions
29 Pharmaceutical Solutions
30 Angiogenesis Inhibitors
31 Angiogenesis Modulating Agents

Interventional clinical trials:

(show all 16)
id Name Status NCT ID Phase
1 Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer Active, not recruiting NCT01987596 Phase 3
2 Erlotinib in Combination With Temozolomide in Treating Relapsed/Recurrent/Refractory Pediatric Solid Tumors Recruiting NCT02689336 Phase 2
3 Disulfiram/Copper Combination In The Treatment of Newly Diagnosed Glioblastoma Multiform Not yet recruiting NCT01777919 Phase 2
4 Vandetanib and Radiation Therapy in Treating Young Patients With Newly Diagnosed Diffuse Brainstem Glioma Completed NCT00472017 Phase 1
5 Using MRI-Guided Laser Heat Ablation to Induce Disruption of the Peritumoral Blood Brain Barrier to Enhance Delivery and Efficacy of Treatment of Pediatric Brain Tumors Recruiting NCT02372409 Phase 1
6 High-Dose Vorinostat and Fractionated Stereotactic Body Radiation Therapy in Treating Patients With Recurrent Glioma Terminated NCT01378481 Phase 1
7 MRI Detection of Microbleeds in Glioma Patients Completed NCT02899663
8 MRI Study With Ferumoxytol in Assessing Early Response in Patients With Glioblastoma Multiforme Receiving Temozolomide and Radiation Therapy Completed NCT00660543
9 Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, or Hypermutated Brain Tumors Recruiting NCT02359565
10 Steady State Blood Volume Maps Using Ferumoxytol Non-stoichiometric Magnetite MRI in Imaging Patients With Glioblastoma Recruiting NCT02359097
11 Next Generation Sequencing of Tumor and Normal Tissues Prospectively in Pediatric Oncology Patients at St. Jude Children's Research Hospital Recruiting NCT02530658
12 Gliogene: Brain Tumor Linkage Study Active, not recruiting NCT00418899
13 A Explore Study of Bevacizumab Combined With Conventional Therapy in Glioblastoma Active, not recruiting NCT01939574
14 Ferumoxytol in Improving MR Imaging in Patients With High-Grade Brain Tumors or Cerebral Metastases Active, not recruiting NCT00103038
15 MR Perfusion Methods in Patients With Suspected Recurrent High Grade Gliomas Not yet recruiting NCT02919865
16 3T MRI Biomarkers of Glioma Treatment Response Terminated NCT01996527 Early Phase 1

Search NIH Clinical Center for Glioma Susceptibility 1

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Glioma Susceptibility 1

Genetic tests related to Glioma Susceptibility 1:

id Genetic test Affiliating Genes
1 Glioma Susceptibility 1 29
2 Glioma, Susceptibility to Somatic 24 IDH1

Anatomical Context for Glioma Susceptibility 1

MalaCards organs/tissues related to Glioma Susceptibility 1:

39
Brain, Spinal Cord

Publications for Glioma Susceptibility 1

Variations for Glioma Susceptibility 1

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

66
id Symbol AA change Variation ID SNP ID
1 IDH2 p.Pro158Leu VAR_073181
2 IDH2 p.Pro162Ser VAR_073182
3 IDH2 p.Arg172Gly VAR_073183
4 IDH2 p.Arg172Lys VAR_073184 rs121913503
5 IDH2 p.Arg172Met VAR_073185

ClinVar genetic disease variations for Glioma Susceptibility 1:

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

id Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 8.62 IDH1 IDH2

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

id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-mediated signaling GO:0048015 9.32 ERBB2 TP53
2 tricarboxylic acid cycle GO:0006099 9.26 IDH1 IDH2
3 2-oxoglutarate metabolic process GO:0006103 9.16 IDH1 IDH2
4 isocitrate metabolic process GO:0006102 8.96 IDH1 IDH2
5 glyoxylate cycle GO:0006097 8.62 IDH1 IDH2

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

id Name GO ID Score Top Affiliating Genes
1 protein phosphatase binding GO:0019903 9.32 ERBB2 TP53
2 NAD binding GO:0051287 9.26 IDH1 IDH2
3 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.16 IDH1 IDH2
4 isocitrate dehydrogenase (NADP+) activity GO:0004450 8.96 IDH1 IDH2
5 isocitrate dehydrogenase activity GO:0004448 8.62 IDH1 IDH2

Sources for Glioma Susceptibility 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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