GLM1
MCID: GLM040
MIFTS: 68

Glioma Susceptibility 1 (GLM1)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glioma Susceptibility 1

MalaCards integrated aliases for Glioma Susceptibility 1:

Name: Glioma Susceptibility 1 57 29 6
Astrocytoma 59 74 72
Glioma, Susceptibility to, Somatic 57 29
Glioblastoma Multiforme 74 72
Glioblastoma, Somatic 57 13
Oligodendroglioma 74 72
Glioma 74 72
Glm1 57 74
Well Differentiated Oligodendroglioma 72
Glioma, Susceptibility, Type 1 40
Familial Glioma of Brain 74
Astrocytic Tumor 59
Ependymal Tumor 59
Glioma Somatic 57
Glioblastoma 72
Glioma 1 74
Gbm 74
Glm 74

Characteristics:

Orphanet epidemiological data:

59
ependymal tumor
Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe),1-9/1000000 (United Kingdom); Age of onset: All ages; Age of death: any age;
astrocytoma
Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
somatic mutation
autosomal dominant

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


HPO:

32
glioma susceptibility 1:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MeSH 44 D005910
MESH via Orphanet 45 D001254
ICD10 via Orphanet 34 C71.7
UMLS via Orphanet 73 C0004114 C0014474
Orphanet 59 ORPHA301 ORPHA94
UMLS 72 C0004114 C0017636 C0017638 more

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 astrocytoma, is related to chordoid glioma and pilocytic astrocytoma of cerebellum, and has symptoms including seizures and headache. An important gene associated with Glioma Susceptibility 1 is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Pathways in cancer and Endometrial cancer. The drugs Midazolam and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include brain, t cells and lung, and related phenotypes are astrocytoma and ependymoma

UniProtKB/Swiss-Prot : 74 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. Glioma 1: 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 1537)
# Related Disease Score Top Affiliating Genes
1 chordoid glioma 34.1 TP53 GFAP
2 pilocytic astrocytoma of cerebellum 33.8 IDH2 IDH1
3 adult oligodendroglioma 33.6 IDH2 IDH1 FGFR1
4 pilomyxoid astrocytoma 33.5 GFAP FGFR1
5 protoplasmic astrocytoma 33.3 TP53 IDH2 GFAP
6 adult astrocytic tumour 32.4 IDH2 IDH1
7 astrocytoma 31.8 PTPN11 IDH1 FGFR1
8 grade iii astrocytoma 31.0 TP53 IDH2 GFAP
9 pilocytic astrocytoma 30.9 IDH1 GFAP
10 extraventricular neurocytoma 30.8 IDH1 GFAP
11 giant cell glioblastoma 30.8 TP53 PPARG LZTR1 IDH1 GFAP FGFR1
12 cerebellar astrocytoma 30.8 TP53 IDH1
13 esophagus adenocarcinoma 30.7 TP53 ERBB2
14 brain glioma 30.7 TP53 IDH1 GFAP
15 gliofibroma 30.6 TP53 GFAP
16 pleomorphic xanthoastrocytoma 30.6 TP53 IDH1 GFAP
17 gliomatosis cerebri 30.6 TP53 IDH1 GFAP
18 cystic teratoma 30.6 TP53 GFAP
19 anaplastic oligodendroglioma 30.5 IDH2 GFAP
20 cerebral neuroblastoma 30.5 TP53 GFAP
21 mixed glioma 30.4 TP53 IDH1 GFAP
22 malignant ependymoma 30.4 TP53 GFAP
23 dysembryoplastic neuroepithelial tumor 30.4 IDH1 GFAP
24 angiocentric glioma 30.4 IDH1 GFAP
25 papilloma of choroid plexus 30.3 TP53 GFAP
26 choroid plexus cancer 30.3 TP53 GFAP
27 gemistocytic astrocytoma 30.2 IDH2 GFAP
28 spinal cancer 30.2 TP53 GFAP
29 enchondroma 30.1 IDH2 IDH1
30 undifferentiated pleomorphic sarcoma 30.1 IDH2 IDH1
31 oligodendroglioma 30.1 TP53 IDH2 IDH1 GFAP
32 brain cancer 30.1 TP53 PTPN11 IDH2 IDH1 GFAP
33 spinal cord astrocytoma 30.1 TP53 IDH1 GFAP
34 ependymoblastoma 30.1 TP53 GFAP
35 cerebellar liponeurocytoma 30.0 TP53 GFAP
36 cellular ependymoma 30.0 TP53 GFAP
37 childhood oligodendroglioma 30.0 IDH1 GFAP
38 medulloblastoma 30.0 TP53 IDH1 GFAP FGFR1 ERBB2
39 oligoastrocytoma 29.8 IDH2 GFAP
40 multiple enchondromatosis, maffucci type 29.8 IDH2 IDH1
41 fibrillary astrocytoma 29.7 TP53 IDH2 IDH1 GFAP
42 chondroblastic osteosarcoma 29.7 IDH2 IDH1
43 pleomorphic adenoma 29.7 TP53 GFAP ERBB2
44 myeloma, multiple 29.7 TP53 PTPN11 IDH2 IDH1
45 enchondromatosis, multiple, ollier type 29.7 PTPN11 IDH2 IDH1
46 adult medulloblastoma 29.7 TP53 IDH1 GFAP
47 myelodysplastic syndrome 29.7 TP53 PTPN11 IDH2 IDH1
48 leukemia, acute myeloid 29.5 TP53 PTPN11 IDH2 IDH1
49 intrahepatic cholangiocarcinoma 29.5 TP53 IDH2 IDH1
50 brain stem glioma 29.4 TP53 IDH2 IDH1 FGFR1

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



Diseases related to Glioma Susceptibility 1

Symptoms & Phenotypes for Glioma Susceptibility 1

Human phenotypes related to Glioma Susceptibility 1:

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

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
glioblastoma multiforme
astrocytomas
oligodendrogliomas
ependymomas
subependymomas

Clinical features from OMIM:

137800

UMLS symptoms related to Glioma Susceptibility 1:


seizures, headache

MGI Mouse Phenotypes related to Glioma Susceptibility 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ERBB2 FGFR1 GFAP IDH2 PPARG PTPN11
2 muscle MP:0005369 9.43 ERBB2 FGFR1 GFAP PPARG PTPN11 TP53
3 neoplasm MP:0002006 9.02 ERBB2 IDH2 PPARG PTPN11 TP53

Drugs & Therapeutics for Glioma Susceptibility 1

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

(show top 50) (show all 715)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
2
Trametinib Approved Phase 4 871700-17-3 11707110
3
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760 44516822
4
tannic acid Approved Phase 4 1401-55-4
5
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
6
Glutamic acid Approved, Nutraceutical Phase 4 56-86-0 33032
7
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
8 Anticonvulsants Phase 4
9 Neurotransmitter Agents Phase 4
10 Central Nervous System Depressants Phase 4
11 Anesthetics Phase 4
12 Anti-Anxiety Agents Phase 4
13 Excitatory Amino Acid Antagonists Phase 4
14 Excitatory Amino Acids Phase 4
15 alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid Phase 4
16 Excitatory Amino Acid Agonists Phase 4
17
Citalopram Approved Phase 2, Phase 3 59729-33-8 2771
18
Dextroamphetamine Approved, Illicit Phase 3 51-64-9 5826
19
Tranexamic Acid Approved Phase 3 1197-18-8 5526
20
Trioxsalen Approved Phase 3 3902-71-4 5585
21
Thioguanine Approved Phase 3 154-42-7 2723601
22
Octreotide Approved, Investigational Phase 2, Phase 3 83150-76-9 383414 6400441
23
Donepezil Approved Phase 3 120014-06-4 3152
24
Leflunomide Approved, Investigational Phase 3 75706-12-6 3899
25
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
26
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
27
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
28
Dalteparin Approved Phase 3 9005-49-6
29
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
30
Streptozocin Approved, Investigational Phase 2, Phase 3 18883-66-4 29327
31
Iodine Approved, Investigational Phase 3 7553-56-2 807
32
Copper Approved, Investigational Phase 2, Phase 3 7440-50-8 27099
33
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
34
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
35
Povidone Approved Phase 3 9003-39-8
36
Povidone-iodine Approved Phase 3 25655-41-8
37
Meloxicam Approved, Vet_approved Phase 2, Phase 3 71125-38-7 5281106 54677470
38
Hydroxychloroquine Approved Phase 2, Phase 3 118-42-3 3652
39
Carmustine Approved, Investigational Phase 3 154-93-8 2578
40
Irinotecan Approved, Investigational Phase 3 100286-90-6, 97682-44-5 60838
41
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
42
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
43
Etoposide Approved Phase 3 33419-42-0 36462
44
Lomustine Approved, Investigational Phase 3 13010-47-4 3950
45
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
46
Histamine Approved, Investigational Phase 3 51-45-6 774
47
Cyproheptadine Approved Phase 3 129-03-3 2913
48
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
49
leucovorin Approved Phase 3 58-05-9 143 6006
50
Dopamine Approved Phase 3 51-61-6, 62-31-7 681

Interventional clinical trials:

(show top 50) (show all 2249)
# Name Status NCT ID Phase Drugs
1 A Clinical Study of Standard TEMODAL® Regimen Versus Standard Regimen Plus Early Post-Surgery TEMODAL® Chemotherapy in Treatment on Patients With Newly Diagnosed Glioblastoma Multiforme (GBM) Completed NCT00686725 Phase 4 Temozolomide
2 A Prospective, Single-Blinded, Randomized Study of Awake vs Intubated General Anesthesia in Patients Undergoing Elective Craniotomy for Supratentorial Glioma Resection Completed NCT02193568 Phase 4
3 Phase II Feasibility Study to Evaluate the Efficacy and Safety of Perampanel in Seizure Patients With Primary Glial Brain Tumors Completed NCT02363933 Phase 4 Perampanel
4 Seizure Treatment IN Glioma (STING): Comparing a Treatment Strategy With Levetiracetam Versus Treatment With Valproic Acid in Glioma Patients With a First Seizure Recruiting NCT03048084 Phase 4 Levetiracetam;Valproic Acid
5 Assessment of Optune Therapy for Patients With Newly Diagnosed Glioblastoma Using Advanced MRI Recruiting NCT03297125 Phase 4
6 Open Label, Multi-center Roll-over Study to Assess Long Term Safety in Patients Who Have Completed a Global Novartis or GSK Sponsored Dabrafenib and/or Trametinib Study Recruiting NCT03340506 Phase 4 dabrafenib;trametinib
7 Long-term Follow-up Study to Monitor the Growth and Development of Pediatric Patients Previously Treated With Everolimus in Study CRAD001M2301 Active, not recruiting NCT02338609 Phase 4 Everolimus;Envirolimus drug class as prescribed by Physician
8 An Open Label, Multi-center Roll-over Study to Assess Long-term Effect in Pediatric Patients Treated With Tafinlar (Dabrafenib) and/or Mekinist (Trametinib) Not yet recruiting NCT03975829 Phase 4 dabrafenib;trametinib
9 A Study of CIK in Combination With Temozolomide With and Without Radiation in Adults With Advanced Malignant Gliomas Not yet recruiting NCT02496988 Phase 4 Temozolomide
10 A Prospective, Non-randomized, Concurrent Control, Open Label, Post-approval Study of NovoTTF-100A in Recurrent GBM Patient Terminated NCT01756729 Phase 4
11 A Phase III Clinical Trial Evaluating DCVax®-L, Autologous Dendritic Cells Pulsed With Tumor Lysate Antigen For The Treatment Of Glioblastoma Multiforme (GBM) Unknown status NCT00045968 Phase 3 Dendritic cell immunotherapy
12 Phase II Prospective Study of Sequential Myeloablative Chemotherapy With Stem Cell Rescue for the Treatment of Selected High Risk CNS Tumors and Recurrent CNS Tumors Unknown status NCT00179803 Phase 2, Phase 3
13 Phase 3 Study of Carmustine Sustained Release Implant (CASANT) to Treat Newly Diagnosed Malignant Glioma Unknown status NCT01656980 Phase 3 Carmustine
14 Ultimate Low Grade Glioma Study Unknown status NCT00003015 Phase 3 carboplatin;vincristine sulfate
15 Impact of Surgery on the Treatment of Supratentorial Malignant Gliomas in Subjects Aged 70 and Over Unknown status NCT02892708 Phase 3
16 Dose Intensive Chemotherapy for Children Less Than Ten Years of Age Newly-Diagnosed With Malignant Brain Tumors: A Pilot Study of Two Alternative Intensive Induction Chemotherapy Regimens, Followed by Consolidation With Myeloablative Chemotherapy (Thiotepa and Carboplatin, With or Without Etoposide) and Autologous Stem Cell Rescue [HEAD START III] Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
17 Treatment of Children and Adolescents With Diffuse Intrinsic Pontine Glioma and High Grade Glioma Unknown status NCT00278278 Phase 3 cisplatin;etoposide;ifosfamide;lomustine;methotrexate;prednisone;vincristine sulfate
18 Prospective Clinical Trials in the Use of Photodynamic Therapy (PDT) for the Treatment of Malignant Supratentorial Brain Tumors Unknown status NCT00003788 Phase 3 carmustine;lomustine;porfimer sodium;procarbazine hydrochloride
19 Angiotensin II Receptor Blockers, Steroids and Radiotherapy in Glioblastoma- A Randomized Multicenter Trial Unknown status NCT01805453 Phase 3 Losartan;Placebo
20 Cognitive Rehabilitation of Glioma Patients: a Prospective, Randomized Study Unknown status NCT00256425 Phase 3
21 Prospective Randomized Trial of Two Hypofractionated Radiotherapy Regimens Versus Conventional Radiotherapy in Pediatric Diffuse Brainstem Glioma Unknown status NCT01878266 Phase 3
22 The Effect of Escitalopram on Mood, Quality of Life and Cognitive Functioning in Glioblastoma Patients Unknown status NCT02623231 Phase 2, Phase 3 Escitalopram;placebo
23 A Study Evaluating Dexamfetamine Sulphate in Patients With Glioma Suffering From Severe Asthenia. A Phase III Double-blind Randomized Placebo-controlled Trial Unknown status NCT02363075 Phase 3 Dexamfetamine sulphate;placebo
24 Randomized, Prospective, Multicenter Blinding Singles With Arm A and Arm B Innovative Strategy Strategy Conventional Unknown status NCT01811121 Phase 3 5-aminolévulinique acid (5-ALA);Placebo
25 Barrow 5-ALA Intraoperative Confocal Evaluation Trial Unknown status NCT01502280 Phase 3 5-Aminolevulinic acid (ALA);Placebo - ascorbic acid
26 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
27 A Prospective, Randomized, Controlled, Double-blind, Multi-center Clinical Study of Nimotuzumab Combinated With Gemcitabine Contrast to Placebo Combinated With Gemcitabine in K-RAS Wild-type,Locally Advanced and Metastatic Pancreatic Cancer Unknown status NCT02395016 Phase 3 nimotuzumab;Gemcitabine
28 PHASE 3 STUDY OF EFFICACY OF TRANEXAMIC ACID IN BRAIN TUMORS RESECTIONS Unknown status NCT01655927 Phase 3 Tranexamic Acid;Placebo: Saline
29 PHASE I-II TRIAL OF METRONOMIC TEMOZOLAMIDE WITH INTERMITTENT INTENSIFICATION AND IRINOTECAN IN PATIENTS WITH RECURRENT GLIOBLASTOMA Unknown status NCT01308632 Phase 2, Phase 3 Temozolamide, irinotecan
30 A Prospective,Randomized,Double-Blind,Controlled,Multicenter,Phase III Study of Nimotuzumab in Combination With Chemotherapy and Radiotherapy for Patients With Local Advanced Nasopharyngeal Cancer Unknown status NCT01074021 Phase 3 Nimotuzumab;placebo plus chemoradiotherapy
31 A Phase III Comparison of Hyperfractionated Radiation Therapy (RT) With BCNU and Conventional RT With BCNU for Supratentorial Malignant Glioma Completed NCT03722355 Phase 3 Carmustine
32 PRECISE - Phase III Randomized Evaluation of Convection Enhanced Delivery of IL13-PE38QQR Compared to GLIADEL® Wafer With Survival Endpoint in Glioblastoma Multiforme Patients at First Recurrence Completed NCT00076986 Phase 3 IL13-PE38QQR;prolifespan 20 with carmustine implant (GLIADEL® Wafer)
33 A Multicenter, Open-Label, Randomized, Active-Controlled Parallel Groups Study Comparing the Efficacy and Safety of Temodal vs Semustine in the Treatment of Subjects With Recurrent Glioblastoma or Anaplastic Astrocytoma Completed NCT00335075 Phase 3 Temozolomide;Semustine
34 Randomized Study of Normal-fractionated Radiotherapy Versus Hypofractionated Radiotherapy Versus Chemotherapy in Patients Over 60 Years With Malignant Glioma Completed NCT00820963 Phase 3 temozolomide
35 A Phase III, Randomized, Open-Label Study Of IV Edotecarin Vs Temozolomide Or Carmustine (BCNU) Or Lomustine (CCNU) In Patients With Glioblastoma Multiforme At First Relapse After Alkylator-Based (NEO) Adjuvant Chemotherapy Completed NCT00068952 Phase 3 Edotecarin;Temozolomide;Carmustine (BCNU);Lomustine (CCNU)
36 Randomized Phase 3 Open Label Study - Enzastaurin vs. Lomustine in Glioblastoma Completed NCT00295815 Phase 3 enzastaurin;lomustine
37 Phase-III Study of Standard Radiotherapy Plus Concomitant and Adjuvant OSAG 101 (Theraloc®) Plus Temozolomide vs. Standard Radiotherapy Plus Concomitant and Adjuvant Temozolomide in Patient With Newly Diagnosed, Histologically Confirmed Glioblastoma Multiforme Grade IV Completed NCT00753246 Phase 3 nimotuzumab
38 Phase III Double Blind, Placebo Controlled Study of Donepezil in the Irradiated Brain Completed NCT00369785 Phase 3 donepezil hydrochloride;Placebo
39 A Phase III Multicenter Study of Intratumoral/Interstitial Therapy With TransMID Compared to Best Standard of Care in Patients With Progressive and/or Recurrent, Non-Resectable Glioblastoma Multiforme Completed NCT00088400 Phase 3 TransMID
40 A PHASE III TRIAL COMPARING THE USE OF RADIOSURGERY FOLLOWED BY CONVENTIONAL RADIOTHERAPY WITH BCNU TO CONVENTIONAL RADIOTHERAPY WITH BCNU FOR SUPRATENTORIAL GLIOBLASTOMA MULTIFORME Completed NCT00002545 Phase 3 carmustine
41 A Phase III Randomized Trial for the Treatment of Pediatric High Grade Gliomas at First Recurrence With a Single High Dose Chemotherapy and Autologous Stem Cell Transplant Versus Three Courses of Intermediate Dose Chemotherapy With Peripheral Blood Stem Cell (PBSC) Support Completed NCT00078988 Phase 3 carboplatin;etoposide;isotretinoin;thiotepa
42 A Randomized Phase II/III Study of Vorinostat and Local Irradiation OR Temozolomide and Local Irradiation OR Bevacizumab and Local Irradiation Followed by Maintenance Bevacizumab and Temozolomide in Children With Newly Diagnosed High-Grade Gliomas Completed NCT01236560 Phase 2, Phase 3 Temozolomide;Vorinostat
43 Concomitant and Adjuvant Temozolomide and Radiotherapy for Newly Diagnosed Glioblastoma Multiforme - A Randomized Phase III Study Completed NCT00006353 Phase 3 temozolomide
44 A Phase III Randomized Study of SU101 Versus Procarbazine for Patients With Glioblastoma Multiforme in First Relapse Completed NCT00003293 Phase 3 leflunomide;procarbazine hydrochloride
45 A Randomized Phase III Study of Short Course (One-week) Radiation Therapy Versus Standard Course (Three-week) Radiation Therapy in Elderly and/or Frail Patients With Newly Diagnosed Glioblastoma Multiforme Completed NCT01450449 Phase 3
46 Chloroquine as Adjuvant to the Treatment of Glioblastoma Multiforme, A Randomized Trial Completed NCT00224978 Phase 3 Chloroquine
47 A Phase II Study of Observation in Favorable Low-Grade Glioma and a Phase II Study of Radiation With or Without PCV Chemotherapy in Unfavorable Low-Grade Glioma Completed NCT00003375 Phase 2, Phase 3 lomustine;procarbazine hydrochloride;vincristine sulfate
48 A Randomized Phase III Study of Temozolomide and Short-Course Radiation Versus Short-Course Radiation Alone In The Treatment of Newly Diagnosed Glioblastoma Multiforme in Elderly Patients Completed NCT00482677 Phase 3 temozolomide
49 Randomized Controlled Trial of Acupressure to Control Chemotherapy-Induced Nausea (CIN) in Children Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
50 Radiotherapy for Malignant Astrocytomas in the Elderly Completed NCT00430911 Phase 3 Radiotherapy

Search NIH Clinical Center for Glioma Susceptibility 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Carmustine
Cisplatin
CISPLATIN PWDR
temozolomide

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
2 Glioma, Susceptibility to, Somatic 29

Anatomical Context for Glioma Susceptibility 1

MalaCards organs/tissues related to Glioma Susceptibility 1:

41
Brain, T Cells, Lung, Testes, Breast, Spinal Cord, Bone

Publications for Glioma Susceptibility 1

Articles related to Glioma Susceptibility 1:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Germline p53 gene mutations in subsets of glioma patients. 8 71
8308926 1994
2
Control of glioblastoma tumorigenesis by feed-forward cytokine signaling. 8
27110918 2016
3
Insulator dysfunction and oncogene activation in IDH mutant gliomas. 8
26700815 2016
4
Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. 8
26061753 2015
5
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. 8
26061751 2015
6
SHMT2 drives glioma cell survival in ischaemia but imposes a dependence on glycine clearance. 8
25855294 2015
7
Use of human embryonic stem cells to model pediatric gliomas with H3.3K27M histone mutation. 8
25525250 2014
8
C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma. 8
24553141 2014
9
Epigenomic alterations define lethal CIMP-positive ependymomas of infancy. 8
24553142 2014
10
The integrated landscape of driver genomic alterations in glioblastoma. 8
23917401 2013
11
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 8
23817572 2013
12
Inhibition of PRC2 activity by a gain-of-function H3 mutation found in pediatric glioblastoma. 8
23539183 2013
13
Transforming fusions of FGFR and TACC genes in human glioblastoma. 8
22837387 2012
14
Passenger deletions generate therapeutic vulnerabilities in cancer. 8
22895339 2012
15
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. 8
22286061 2012
16
Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. 8
22286216 2012
17
NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. 71
22138009 2011
18
Mutations in CIC and FUBP1 contribute to human oligodendroglioma. 8
21817013 2011
19
IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo. 8
21446021 2011
20
NFKBIA deletion in glioblastomas. 8
21175304 2011
21
Glioblastoma stem-like cells give rise to tumour endothelium. 8
21102433 2010
22
Tumour vascularization via endothelial differentiation of glioblastoma stem-like cells. 8
21102434 2010
23
Cross-species genomics matches driver mutations and cell compartments to model ependymoma. 8
20639864 2010
24
A genome-wide RNA interference screen reveals an essential CREB3L2-ATF5-MCL1 survival pathway in malignant glioma with therapeutic implications. 8
20495567 2010
25
All the 1p19q codeleted gliomas are mutated on IDH1 or IDH2. 8
20427748 2010
26
Inherited predisposition to glioma. 8
20150373 2010
27
The transcriptional network for mesenchymal transformation of brain tumours. 8
20032975 2010
28
IDH1 mutations in low-grade astrocytomas predict survival but not response to temozolomide. 8
19933982 2009
29
Alterations of BRAF and HIPK2 loci predominate in sporadic pilocytic astrocytoma. 8
19794125 2009
30
IDH1 and IDH2 mutations in gliomas. 8
19458374 2009
31
IDH1 and IDH2 mutations in gliomas. 8
19228619 2009
32
TP53 codon 72 polymorphism is associated with age at onset of glioblastoma. 8
19171829 2009
33
Comprehensive genomic characterization defines human glioblastoma genes and core pathways. 8
18772890 2008
34
p53 and Pten control neural and glioma stem/progenitor cell renewal and differentiation. 8
18948956 2008
35
An integrated genomic analysis of human glioblastoma multiforme. 8
18772396 2008
36
Familiality in brain tumors. 8
18809838 2008
37
Small interfering RNA-mediated xCT silencing in gliomas inhibits neurodegeneration and alleviates brain edema. 8
18469825 2008
38
BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas. 8
18398503 2008
39
Bone morphogenetic proteins inhibit the tumorigenic potential of human brain tumour-initiating cells. 8
17151667 2006
40
Glioma stem cells promote radioresistance by preferential activation of the DNA damage response. 8
17051156 2006
41
Molecular determinants of the response of glioblastomas to EGFR kinase inhibitors. 8
16282176 2005
42
Gene expression profiling reveals molecularly and clinically distinct subtypes of glioblastoma multiforme. 8
15827123 2005
43
Radiotherapy plus concomitant and adjuvant temozolomide for glioblastoma. 8
15758009 2005
44
MGMT gene silencing and benefit from temozolomide in glioblastoma. 8
15758010 2005
45
Lung cancer: intragenic ERBB2 kinase mutations in tumours. 71
15457249 2004
46
Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects. 8
15319471 2004
47
Immunohistochemical detection of EGFRvIII in high malignancy grade astrocytomas and evaluation of prognostic significance. 8
15290895 2004
48
Clinical trial substantiates the predictive value of O-6-methylguanine-DNA methyltransferase promoter methylation in glioblastoma patients treated with temozolomide. 8
15041700 2004
49
Telomerase reactivation in malignant gliomas and loss of heterozygosity on 10p15.1. 8
12796538 2003
50
A family with spinal anaplastic ependymoma: evidence of loss of chromosome 22q in tumor. 8
14566482 2003

Variations for Glioma Susceptibility 1

ClinVar genetic disease variations for Glioma Susceptibility 1:

6 (show all 34)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 17:7578406-7578406 17:7675088-7675088
2 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic rs121918464 12:112888210-112888210 12:112450406-112450406
3 PTPN11 NM_002834.4(PTPN11): c.227A> G (p.Glu76Gly) single nucleotide variant Pathogenic rs121918465 12:112888211-112888211 12:112450407-112450407
4 PTPN11 NM_002834.4(PTPN11): c.227A> C (p.Glu76Ala) single nucleotide variant Pathogenic rs121918465 12:112888211-112888211 12:112450407-112450407
5 ERBB2 NM_004448.3(ERBB2): c.2740G> A (p.Glu914Lys) single nucleotide variant Pathogenic rs28933368 17:37881974-37881974 17:39725721-39725721
6 FGFR1 NM_023110.2(FGFR1): c.1638C> A (p.Asn546Lys) single nucleotide variant Pathogenic rs779707422 8:38274849-38274849 8:38417331-38417331
7 FGFR1 NM_023110.2(FGFR1): c.1966A> G (p.Lys656Glu) single nucleotide variant Pathogenic/Likely pathogenic rs869320694 8:38272308-38272308 8:38414790-38414790
8 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 17:7577538-7577538 17:7674220-7674220
9 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 17:7577120-7577120 17:7673802-7673802
10 IDH1 NM_005896.3(IDH1): c.395G> A (p.Arg132His) single nucleotide variant Pathogenic/Likely pathogenic rs121913500 2:209113112-209113112 2:208248388-208248388
11 TP53 NM_000546.5(TP53): c.559+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1131691042 17:7578370-7578370 17:7675052-7675052
12 IDH1 NM_005896.3(IDH1): c.394C> T (p.Arg132Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 2:209113113-209113113 2:208248389-208248389
13 IDH1 NM_005896.3(IDH1): c.394C> A (p.Arg132Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 2:209113113-209113113 2:208248389-208248389
14 TP53 NM_000546.5(TP53): c.96+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs1131691003 17:7579699-7579699 17:7676381-7676381
15 FGFR1 NM_023110.2(FGFR1): c.1968G> C (p.Lys656Asn) single nucleotide variant Likely pathogenic rs1057519897 8:38272306-38272306 8:38414788-38414788
16 FGFR1 NM_023110.2(FGFR1): c.1636A> G (p.Asn546Asp) single nucleotide variant Likely pathogenic rs1057519898 8:38274851-38274851 8:38417333-38417333
17 FGFR1 NM_023110.2(FGFR1): c.1543A> G (p.Met515Val) single nucleotide variant Likely pathogenic rs1057519899 8:38275397-38275397 8:38417879-38417879
18 H3-3A NM_002107.6(H3-3A): c.83A> T (p.Lys28Met) single nucleotide variant Likely pathogenic rs1057519903 1:226252135-226252135 1:226064434-226064434
19 NC_000014.9: g.38411139_38421941dup duplication Likely pathogenic
20 TP53 NM_000546.5(TP53): c.799C> T (p.Arg267Trp) single nucleotide variant Likely pathogenic rs55832599 17:7577139-7577139 17:7673821-7673821
21 TP53 NM_000546.5(TP53): c.848G> A (p.Arg283His) single nucleotide variant Conflicting interpretations of pathogenicity rs371409680 17:7577090-7577090 17:7673772-7673772
22 TP53 NM_000546.5(TP53): c.466C> T (p.Arg156Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs563378859 17:7578464-7578464 17:7675146-7675146
23 TP53 NM_000546.5(TP53): c.847C> T (p.Arg283Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149633775 17:7577091-7577091 17:7673773-7673773
24 CHEK2 NM_007194.4(CHEK2): c.1100del (p.Thr367fs) deletion Conflicting interpretations of pathogenicity rs555607708 22:29091857-29091857 22:28695869-28695869
25 ARID1A NM_006015.6(ARID1A): c.48_50GCC[6] (p.Pro21dup) short repeat Conflicting interpretations of pathogenicity rs748085214 1:27022954-27022956 1:26696463-26696465
26 TSC1 NM_000368.4(TSC1): c.359T> C (p.Leu120Pro) single nucleotide variant Uncertain significance rs1554820262 9:135800978-135800978 9:132925591-132925591
27 TP53 NM_000546.5(TP53): c.542G> T (p.Arg181Leu) single nucleotide variant Uncertain significance rs397514495 17:7578388-7578388 17:7675070-7675070
28 TP53 NM_000546.5(TP53): c.760A> G (p.Ile254Val) single nucleotide variant Uncertain significance rs746601313 17:7577521-7577521 17:7674203-7674203
29 ARID1B NM_020732.3(ARID1B): c.751T> G (p.Cys251Gly) single nucleotide variant Uncertain significance rs1276300860 6:157099814-157099814 6:156778680-156778680
30 EPHA5 NM_004439.8(EPHA5): c.1043A> G (p.Asp348Gly) single nucleotide variant Uncertain significance rs200932017 4:66361129-66361129 4:65495411-65495411
31 KMT2D NM_003482.3(KMT2D): c.15876G> C (p.Glu5292Asp) single nucleotide variant Uncertain significance rs1365163460 12:49418638-49418638 12:49024855-49024855
32 TP53 NM_000546.5(TP53): c.461G> A (p.Gly154Asp) single nucleotide variant Uncertain significance rs762846821 17:7578469-7578469 17:7675151-7675151
33 PTPN11 NM_002834.4(PTPN11): c.940T> C (p.Phe314Leu) single nucleotide variant Uncertain significance 12:112915667-112915667 12:112477863-112477863
34 PPARG NM_138712.3(PPARG): c.1347C> T (p.His449=) single nucleotide variant Likely benign rs3856806 3:12475557-12475557 3:12434058-12434058

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

74 (show all 14)
# Symbol AA change Variation ID SNP ID
1 H3-3A p.Lys28Met VAR_079021 rs105751990
2 H3-3A p.Gly35Arg VAR_079022 rs155326062
3 H3-3A p.Gly35Val VAR_079023
4 H3C1 p.Lys28Met VAR_079018 rs105751990
5 IDH2 p.Pro158Leu VAR_073181
6 IDH2 p.Pro162Ser VAR_073182
7 IDH2 p.Arg172Gly VAR_073183 rs105751990
8 IDH2 p.Arg172Lys VAR_073184 rs121913503
9 IDH2 p.Arg172Met VAR_073185 rs121913503
10 LZTR1 p.Gly248Arg VAR_075659 rs869320686
11 LZTR1 p.Trp105Arg VAR_081294
12 LZTR1 p.Arg198Gly VAR_081301
13 LZTR1 p.Thr288Ile VAR_081309
14 LZTR1 p.Arg810Trp VAR_081331 rs776893978

Cosmic variations for Glioma Susceptibility 1:

9 (show top 50) (show all 7126)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM40802 ZW10 central nervous system,brain,glioma,astrocytoma c.2140C>T p.P714S 11:113736699-113736699 8
2 COSM40801 ZSWIM4 central nervous system,brain,glioma,astrocytoma c.266C>T p.P89L 19:13799832-13799832 8
3 COSM6932117 ZRSR2 central nervous system,brain,glioma,astrocytoma c.271G>A p.E91K 23:15803755-15803755 8
4 COSM6948317 ZRSR2 central nervous system,brain,glioma,astrocytoma c.340C>T p.Q114* 23:15804138-15804138 8
5 COSM6959574 ZRSR2 central nervous system,brain,glioma,astrocytoma c.260G>A p.R87K 23:15803744-15803744 8
6 COSM6932118 ZRSR2 central nervous system,brain,glioma,astrocytoma c.961C>T p.P321S 23:15822754-15822754 8
7 COSM6973162 ZRSR2 central nervous system,brain,glioma,oligodendroglioma Grade III c.220G>A p.E74K 23:15803704-15803704 8
8 COSM39611 ZPLD1 central nervous system,brain,glioma,astrocytoma c.393A>T p.G131G 3:102456210-102456210 8
9 COSM40237 ZNF687 central nervous system,brain,glioma,astrocytoma c.3651C>T p.T1217T 1:151291146-151291146 8
10 COSM39318 ZNF687 central nervous system,brain,glioma,astrocytoma c.2044T>A p.C682S 1:151288335-151288335 8
11 COSM39317 ZNF687 central nervous system,brain,glioma,astrocytoma c.2043G>C p.Q681H 1:151288334-151288334 8
12 COSM39149 ZNF507 central nervous system,brain,glioma,astrocytoma c.1517G>C p.R506T 19:32354347-32354347 8
13 COSM40794 ZNF473 central nervous system,brain,glioma,astrocytoma c.42C>T p.D14D 19:50039193-50039193 8
14 COSM39217 ZMYND8 central nervous system,brain,glioma,astrocytoma c.2162T>G p.V721G 20:47246130-47246130 8
15 COSM40504 ZMYND8 central nervous system,brain,glioma,astrocytoma c.2176G>A p.D726N 20:47246116-47246116 8
16 COSM5977723 ZMYM2 central nervous system,spinal cord,glioma,astrocytoma Grade I c.1134-1G>T p.? 13:20005073-20005073 8
17 COSM5977724 ZMYM2 central nervous system,spinal cord,glioma,astrocytoma Grade I c.1134-1G>T p.? 13:20005073-20005073 8
18 COSM39507 ZMAT4 central nervous system,brain,glioma,astrocytoma c.76G>A p.E26K 8:40825601-40825601 8
19 COSM6976869 ZFHX3 central nervous system,brain,glioma,astrocytoma c.4279G>A p.A1427T 16:72798403-72798403 8
20 COSM6929045 ZFHX3 central nervous system,brain,glioma,astrocytoma c.3607G>T p.E1203* 16:72811961-72811961 8
21 COSM6950242 ZFHX3 central nervous system,brain,glioma,oligodendroglioma Grade III c.8300G>A p.G2767E 16:72794382-72794382 8
22 COSM6959528 ZFHX3 central nervous system,brain,glioma,astrocytoma c.145C>T p.P49S 16:72960001-72960001 8
23 COSM5385367 ZFHX3 central nervous system,brain,glioma,astrocytoma c.934G>A p.D312N 16:72959212-72959212 8
24 COSM6980194 ZFHX3 central nervous system,brain,glioma,oligodendroglioma Grade III c.6025T>C p.Y2009H 16:72796657-72796657 8
25 COSM5981027 ZFHX3 central nervous system,brain,glioma,astrocytoma c.8647A>G p.M2883V 16:72794035-72794035 8
26 COSM3888943 ZFHX3 central nervous system,brain,glioma,astrocytoma c.8198G>A p.R2733H 16:72794484-72794484 8
27 COSM6973145 ZFHX3 central nervous system,brain,glioma,oligodendroglioma Grade III c.3986G>A p.G1329E 16:72798696-72798696 8
28 COSM6976663 ZFHX3 central nervous system,brain,glioma,oligodendroglioma Grade III c.8600C>T p.S2867F 16:72794082-72794082 8
29 COSM6968504 ZFHX3 central nervous system,brain,glioma,oligodendroglioma Grade III c.2680G>A p.D894N 16:72957466-72957466 8
30 COSM6976870 ZFHX3 central nervous system,brain,glioma,astrocytoma c.461G>A p.G154E 16:72959685-72959685 8
31 COSM6948292 ZFHX3 central nervous system,brain,glioma,astrocytoma c.1819G>A p.E607K 16:72958327-72958327 8
32 COSM6968503 ZFHX3 central nervous system,brain,glioma,oligodendroglioma Grade III c.9154G>A p.V3052I 16:72793528-72793528 8
33 COSM40870 ZFC3H1 central nervous system,brain,glioma,astrocytoma c.1055G>A p.S352N 12:71647774-71647774 8
34 COSM40793 ZFAT central nervous system,brain,glioma,astrocytoma c.1006G>A p.V336M 8:134602677-134602677 8
35 COSM40680 ZEB1 central nervous system,brain,glioma,astrocytoma c.1913C>T p.S638L 10:31521248-31521248 8
36 COSM41152 ZC3H6 central nervous system,brain,glioma,astrocytoma c.2254G>T p.G752* 2:112331172-112331172 8
37 COSM40778 ZBTB4 central nervous system,brain,glioma,astrocytoma c.2842C>T p.L948F 17:7462140-7462140 8
38 COSM40777 ZBTB24 central nervous system,brain,glioma,astrocytoma c.1886C>T p.P629L 6:109466059-109466059 8
39 COSM39508 ZBTB21 central nervous system,brain,glioma,astrocytoma c.997G>A p.G333S 21:41993099-41993099 8
40 COSM40776 ZBTB16 central nervous system,brain,glioma,astrocytoma c.413C>T p.A138V 11:114063713-114063713 8
41 COSM41039 YWHAH central nervous system,brain,glioma,astrocytoma c.169C>T p.R57* 22:31956220-31956220 8
42 COSM40774 YTHDC2 central nervous system,brain,glioma,astrocytoma c.782C>T p.A261V 5:113532985-113532985 8
43 COSM4440509 YES1 central nervous system,brain,glioma,astrocytoma c.832C>T p.R278* 18:743308-743308 8
44 COSM6913717 YES1 central nervous system,brain,glioma,astrocytoma c.1153G>A p.A385T 18:736946-736946 8
45 COSM6919634 YES1 central nervous system,brain,glioma,oligodendroglioma Grade III c.259G>C p.A87P 18:756569-756569 8
46 COSM6931893 YAP1 central nervous system,brain,glioma,astrocytoma c.1007C>T p.T336I 11:102227474-102227474 8
47 COSM6928995 YAP1 central nervous system,brain,glioma,astrocytoma c.842G>A p.R281Q 11:102206046-102206046 8
48 COSM6962767 YAP1 central nervous system,brain,glioma,astrocytoma c.538G>A p.A180T 11:102114360-102114360 8
49 COSM6976817 XRCC2 central nervous system,brain,glioma,astrocytoma c.365G>A p.S122N 7:152649120-152649120 8
50 COSM39272 XPO7 central nervous system,brain,glioma,astrocytoma c.1157G>A p.R386Q 8:21982692-21982692 8

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

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.61 PTPN11 FGFR1 ERBB2
2 2-oxoglutarate metabolic process GO:0006103 9.4 IDH2 IDH1
3 regulation of protein complex assembly GO:0043254 9.37 PTPN11 GFAP
4 negative regulation of telomerase activity GO:0051974 9.32 TP53 PPARG
5 NADP metabolic process GO:0006739 9.26 IDH2 IDH1
6 Bergmann glial cell differentiation GO:0060020 9.16 PTPN11 GFAP
7 isocitrate metabolic process GO:0006102 8.96 IDH2 IDH1
8 glyoxylate cycle GO:0006097 8.62 IDH2 IDH1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.63 TP53 PPARG IDH1 GFAP FGFR1 ERBB2
2 protein phosphatase binding GO:0019903 9.43 TP53 PPARG ERBB2
3 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.32 IDH2 IDH1
4 isocitrate dehydrogenase activity GO:0004448 8.96 IDH2 IDH1
5 isocitrate dehydrogenase (NADP+) activity GO:0004450 8.62 IDH2 IDH1

Sources for Glioma Susceptibility 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
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