Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
DIPG
MCID: DFF039
MIFTS: 47

Diffuse Midline Glioma, H3 K27m-Mutant (DIPG)

Categories: Bone diseases, Cancer diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
Sources

Aliases & Classifications for Diffuse Midline Glioma, H3 K27m-Mutant

About this section

MalaCards integrated aliases for Diffuse Midline Glioma, H3 K27m-Mutant:

Name: Diffuse Midline Glioma, H3 K27m-Mutant 12 15
Diffuse Intrinsic Pontine Glioma 12 20 58 6 17
Dipg 20 58
Infiltrative Brainstem Glioma 20

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Neuronal diseases Bone diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080684
NCIt 50 C129309
Orphanet 58 ORPHA497188
Sources

Summaries for Diffuse Midline Glioma, H3 K27m-Mutant

About this section
Disease Ontology : 12 A central nervous system cancer that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.

MalaCards based summary : Diffuse Midline Glioma, H3 K27m-Mutant, also known as diffuse intrinsic pontine glioma, is related to glioma and brain cancer. An important gene associated with Diffuse Midline Glioma, H3 K27m-Mutant is CHEK2 (Checkpoint Kinase 2), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. The drugs Etoposide and Lomustine have been mentioned in the context of this disorder. Affiliated tissues include brain, t cells and pons, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Sources

Related Diseases for Diffuse Midline Glioma, H3 K27m-Mutant

About this section

Diseases related to Diffuse Midline Glioma, H3 K27m-Mutant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 glioma 31.5 PDGFRA H3C11 H3C1 H3-3A BRCA2
2 brain cancer 31.4 PDGFRA MGMT H3-3A BRCA2
3 diffuse astrocytoma 31.0 MGMT H3-3B H3-3A H2AC18
4 juvenile pilocytic astrocytoma 31.0 H3-3B H3-3A
5 anaplastic astrocytoma 30.9 PDGFRA MGMT H3-3B H3-3A H2AC18
6 malignant astrocytoma 30.9 PDGFRA MGMT H3-3B H3-3A H2AC18
7 brain stem glioma 30.1 H3C6 H3C4 H3C3 H3C2 H3C11 H3-3B
8 glial tumor 10.8
9 glioblastoma 10.7
10 brain tumor, childhood 10.5
11 ataxia and polyneuropathy, adult-onset 10.5
12 esophageal atresia/tracheoesophageal fistula 10.4 BRIP1 BRCA2
13 neutropenia 10.4
14 bone giant cell sarcoma 10.4 H3-3B H3-3A
15 malignant giant cell tumor 10.4 H3-3B H3-3A
16 telangiectatic osteogenic sarcoma 10.4 H3-3B H3-3A
17 adult oligodendroglioma 10.4 H3-3B H3-3A
18 cervical adenoma malignum 10.4 CHEK2 BRCA2
19 adult brain stem glioma 10.4 MGMT H3-3B H3-3A
20 spinal cord astrocytoma 10.4 MGMT H3-3B H3-3A
21 childhood oligodendroglioma 10.4 MGMT H3-3B H3-3A
22 fanconi anemia, complementation group n 10.4 H2AC18 BRIP1 BRCA2
23 fanconi anemia, complementation group d1 10.4 H2AC18 BRIP1 BRCA2
24 tracheoesophageal fistula with or without esophageal atresia 10.4 BRIP1 BRCA2
25 childhood pilocytic astrocytoma 10.4 H3-3B H3-3A
26 pleomorphic xanthoastrocytoma 10.4 MGMT H3-3B H3-3A
27 pilocytic astrocytoma of cerebellum 10.4 H3C11 H3C10
28 fanconi anemia, complementation group j 10.4 H2AC18 BRIP1 BRCA2
29 cerebellar astrocytoma 10.4 H3C11 H3C10
30 retinoblastoma 10.4
31 hydrocephalus 10.4
32 cranial nerve palsy 10.4
33 pilocytic astrocytoma 10.4
34 connective tissue benign neoplasm 10.4 H3-3B H3-3A H2AC18
35 glioma susceptibility 1 10.4
36 high grade glioma 10.4
37 paraplegia 10.4
38 central nervous system benign neoplasm 10.4 H3-3B H3-3A H2AC18
39 chondroblastic osteosarcoma 10.4 H3-3B H3-3A
40 giant cell glioblastoma 10.4 MGMT H3-3B H3-3A
41 colon leiomyoma 10.4 H3-3B H3-3A
42 b-lymphoblastic leukemia/lymphoma 10.3 H2AC18 CHEK2 BRCA2
43 mixed glioma 10.3 PDGFRA MGMT
44 adult astrocytic tumour 10.3 PDGFRA H3-3B H3-3A
45 spinal cord glioma 10.3 H3-3B H3-3A
46 bone osteosarcoma 10.3 H3-3B H3-3A H2AC18 CHEK2
47 infratentorial cancer 10.3 MGMT H3-3B H3-3A H2AC18
48 central nervous system cancer 10.3 MGMT H3-3B H3-3A H2AC18
49 gliofibroma 10.3 PDGFRA MGMT
50 melanoma, cutaneous malignant 1 10.3 MGMT CHEK2 BRCA2

Graphical network of the top 20 diseases related to Diffuse Midline Glioma, H3 K27m-Mutant:



Diseases related to Diffuse Midline Glioma, H3 K27m-Mutant
Sources

Symptoms & Phenotypes for Diffuse Midline Glioma, H3 K27m-Mutant

About this section

GenomeRNAi Phenotypes related to Diffuse Midline Glioma, H3 K27m-Mutant according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.36 ACVR1 H3C10
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 9.36 ACVR1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-127 9.36 H3C10
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.36 CHEK2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-207 9.36 CHEK2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.36 CHEK2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.36 CHEK2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.36 CHEK2 H3C10
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.36 H3C10

MGI Mouse Phenotypes related to Diffuse Midline Glioma, H3 K27m-Mutant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.17 ACVR1 BRCA2 BRIP1 CHEK2 H3C10 MGMT
Sources

Drugs & Therapeutics for Diffuse Midline Glioma, H3 K27m-Mutant

About this section

Drugs for Diffuse Midline Glioma, H3 K27m-Mutant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 98)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 3 33419-42-0 36462
2
Lomustine Approved, Investigational Phase 3 13010-47-4 3950
3
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
4
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
5
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
6
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
7
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
8
leucovorin Approved Phase 3 58-05-9 6006
9
Ifosfamide Approved Phase 3 3778-73-2 3690
10
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
11
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
12 Immunosuppressive Agents Phase 3
13 Etoposide phosphate Phase 3
14 Immunologic Factors Phase 3
15 Antirheumatic Agents Phase 3
16 Antimitotic Agents Phase 3
17 Tubulin Modulators Phase 3
18 Antimetabolites Phase 3
19 Anti-Inflammatory Agents Phase 3
20 Folic Acid Antagonists Phase 3
21 Hormone Antagonists Phase 3
22
Isophosphamide mustard Phase 3 100427
23 Vitamin B Complex Phase 3
24 Hormones Phase 3
25 glucocorticoids Phase 3
26 Vitamin B9 Phase 3
27 Antineoplastic Agents, Hormonal Phase 3
28 Dermatologic Agents Phase 3
29 Calcium, Dietary Phase 3
30 Folate Phase 3
31 Psychotropic Drugs Phase 3
32 Anticonvulsants Phase 3
33 Pharmaceutical Solutions Phase 3
34 Neurotransmitter Agents Phase 3
35
Calcium Nutraceutical Phase 3 7440-70-2 271
36
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
37
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
38
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2
39
Piperazine Approved, Vet_approved Phase 1, Phase 2 110-85-0 4837
40
Irinotecan Approved, Investigational Phase 1, Phase 2 97682-44-5, 100286-90-6 60838
41
Mebendazole Approved, Vet_approved Phase 1, Phase 2 31431-39-7 4030
42
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 498142 38904
43
nivolumab Approved Phase 1, Phase 2 946414-94-4
44
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
45
Cemiplimab Approved, Investigational Phase 1, Phase 2 1801342-60-8
46
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
47
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
48
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
49
Bevacizumab Approved, Investigational Phase 2 216974-75-3
50
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311

Interventional clinical trials:

(show top 50) (show all 67)
# Name Status NCT ID Phase Drugs
1 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
2 International Cooperative Phase III Trial of the HIT-HGG Study Group for the Treatment of High Grade Glioma, Diffuse Intrinsic Pontine Glioma, and Gliomatosis Cerebri in Children and Adolescents < 18 Years.(HIT-HGG-2013) Recruiting NCT03243461 Phase 3 Temozolomide + Valproic Acid
3 Biological Medicine for Diffuse Intrinsic Pontine Glioma (DIPG) Eradication Unknown status NCT02233049 Phase 2 Erlotinib;Everolimus;Dasatinib
4 A Phase I/ II Clinical Trial of MDV9300 (Pidilizumab) in Diffuse Intrinsic Pontine Glioma Unknown status NCT01952769 Phase 1, Phase 2
5 Palliative Re-irradiation for Progressive Diffuse Intrinsic Pontine Glioma (DIPG) in Children Completed NCT01777633 Phase 1, Phase 2
6 A Phase II Study of Pegylated Interferon Alfa-2b (Peg-Intron (TM)) in Children With Diffuse Pontine Gliomas Completed NCT00036569 Phase 2
7 Phase 2 Study of Safety and Efficacy of Nimotuzumab (TheraCIM®) in Pediatric Patients With Recurrent Diffuse Intrinsic Pontine Glioma Completed NCT00600054 Phase 2
8 A Phase I/II Study of ABT-888, An Oral Poly(ADP-ribose) Polymerase Inhibitor, and Concurrent Radiation Therapy, Followed by ABT-888 and Temozolomide, in Children With Newly Diagnosed Diffuse Pontine Gliomas (DIPG) Completed NCT01514201 Phase 1, Phase 2 Temozolomide;Veliparib
9 Phase 2 Trial of Indoximod With Chemotherapy and Radiation for Children With Progressive Brain Tumors or Newly Diagnosed DIPG Recruiting NCT04049669 Phase 2 Indoximod;Indoximod;Temozolomide;Cyclophosphamide;Etoposide;Lomustine
10 A Phase I Study of Mebendazole for the Treatment of Pediatric Gliomas Recruiting NCT01837862 Phase 1, Phase 2 Mebendazole;Vincristine;Carboplatin;Temozolomide;Bevacizumab;Irinotecan
11 H3.3K27M Specific Peptide Vaccine Combined With Poly-ICLC With and Without PD-1 Inhibition Using Nivolumab for the Treatment of Newly Diagnosed HLA-A2 (02:01)+ H3.3K27M Positive Diffuse Intrinsic Pontine Glioma (DIPG) and Newly Diagnosed HLA-A2 (02:01)+ H3.3K27M Positive Gliomas Recruiting NCT02960230 Phase 1, Phase 2 Nivolumab
12 A Study of Low Dose Bevacizumab With Conventional Radiotherapy Alone in Diffuse Intrinsic Pontine Glioma Recruiting NCT04250064 Phase 2 Bevacizumab Injection
13 Phase 2 Randomized Study of RT and Reirradiation at Relapse vs Multiple Elective RT Courses With Same Concomitant CT for Newly Diagnosed Recruiting NCT03620032 Phase 2 Nimotuzumab;Vinorelbine
14 A Safety and Pharmacokinetic Study of Single Agent REGN2810 in Pediatric Patients With Relapsed or Refractory Solid or Central Nervous System (CNS) Tumors and a Safety and Efficacy Trial of REGN2810 in Combination With Radiotherapy in Pediatric Patients With Newly Diagnosed Diffuse Intrinsic Pontine Glioma, Newly Diagnosed High-Grade Glioma, or Recurrent High-Grade Glioma Recruiting NCT03690869 Phase 1, Phase 2 REGN2810 (monotherapy);REGN2810 (maintenance)
15 A Phase 2 Study of Atengenal (A-10) and Astugenal (AS2-1) in Diffuse, Intrinsic Pontine Glioma (DIPG) Active, not recruiting NCT02742883 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
16 An Open Label Single Arm Phase I/II Study of MTX110 Delivered by Convection-enhanced Delivery (CED) in Patients With Diffuse Intrinsic Pontine Glioma (DIPG) Previously Treated With External Beam Radiation Therapy Active, not recruiting NCT03566199 Phase 1, Phase 2 Panobinostat Nanoparticle Formulation MTX110;Convection-Enhanced Delivery (CED)
17 A Phase 1/2 Study of Suberoylanilide Hydroxamic Acid (SAHA, Vorinostat) and Local Irradiation, Followed by Maintenance SAHA in Children With Newly Diagnosed Diffuse Intrinsic Pontine Gliomas (DIPG) Active, not recruiting NCT01189266 Phase 1, Phase 2 Vorinostat
18 A Multicenter, Prospective, Open and Single Arm Clinical Study of Nimotuzumab Combined With Concurrent Radiochemotherapy in the Treatment of Newly Diagnosed Diffuse Intrinsic Pontine Glioma (DIPG) in Children Not yet recruiting NCT04532229 Phase 2 Nimotuzumab+CRT(concurrent IMRT and TMZ)
19 An Open-label, Single-arm, Phase II Study to Evaluate Safety and Efficacy of Doxorubicin in Combination With Radiotherapy, Temozolomide and Valproic Acid in Patients With Glioblastoma Multiforme (GBM) and Diffuse Intrinsic Pontine Glioma (DIPG) Terminated NCT02758366 Phase 2 Doxorubicin
20 Phase II Trial of Molecularly Determined Treatment of Children and Young Adults With Newly Diagnosed Diffuse Intrinsic Pontine Gliomas Terminated NCT01182350 Phase 2 Bevacizumab;Erlotinib;Temozolomide
21 A Molecular Biology and Phase II Study of Imetelstat (GRN163L) in Children With Recurrent High-Grade Glioma, Ependymoma and Diffuse Intrinsic Pontine Glioma Terminated NCT01836549 Phase 2 imetelstat sodium
22 Cilengitide and Metronomic Temozolomide for Relapsed or Refractory High Grade Gliomas or Diffuse Intrinsic Pontine Gliomas in Children and Adolescents - A Phase II Study HIT-HGG-CilMetro - A Clinical Phase II Trial of the HIT-HGG Study Group - Terminated NCT01517776 Phase 2 Cilengitide;Temozolomide
23 A Phase I/II Study of Ribociclib, a CDK4/6 Inhibitor, Following Radiation Therapy in Children With Newly Diagnosed Non-biopsied Diffuse Pontine Gliomas (DIPG) and RB+ Biopsied DIPG and High Grade Gliomas (HGG) Terminated NCT02607124 Phase 1, Phase 2 Ribociclib
24 A Phase 2 Study of Panobinostat in Combination With Everolimus for Children and Young Adults With Gliomas Harboring H3.3 or H3.1 K27M Mutation Withdrawn NCT03632317 Phase 2 Panobinostat;Everolimus
25 Phase Ib Clinical Trial on the Safety of Immunotherapy With Autologous Dendritic Cells Primed With Lysate Allogeneic Tumor Lines in Patients With Diffuse Intrinsic Pontine Glioma (DIPG) Unknown status NCT02840123 Phase 1
26 Platelet Derived Growth Factor Receptor (PDGFR) Inhibitor Crenolanib in Children and Young Adults With Newly Diagnosed Diffuse Intrinsic Pontine Glioma or Recurrent High-Grade Glioma Including Diffuse Intrinsic Pontine Glioma Completed NCT01393912 Phase 1 Crenolanib
27 Intra-arterial Chemotherapy for the Treatment of Progressive Diffuse Intrinsic Pontine Gliomas (DIPG). Completed NCT01688401 Phase 1 Melphalan hydrochloride
28 Phase I Study of the Combination of Vandetanib and Dasatinib Administered During and After Radiation Therapy in Children With Diffuse Intrinsic Pontine Glioma Completed NCT00996723 Phase 1 vandetanib and dasatinib
29 Phase I Study of the Combination of Crizotinib and Dasatinib in Pediatric Research Participants With Diffuse Pontine Glioma (DIPG) and High-Grade Glioma (HGG) Completed NCT01644773 Phase 1 Crizotinib;Dasatinib
30 Cilengitide (EMD121974) in Combination With Irradiation in Children and Young Adults With Newly Diagnosed Diffuse Intrinsic Pontine Glioma: Phase I Study Completed NCT01165333 Phase 1 Cilengitide dose escalation;Cilengitide
31 A Phase I Trial of Lenalidomide and Radiotherapy in Children With Diffuse Intrinsic Pontine Gliomas and High-grade Gliomas Completed NCT01222754 Phase 1 Lenalidomide
32 Phase 1 Trial of Panobinostat in Children With Diffuse Intrinsic Pontine Glioma Recruiting NCT02717455 Phase 1 LBH589
33 Phase I REsearch on Multi-antigen T Cell Infusion Against Neuro-oncologic Disease Recruiting NCT03652545 Phase 1
34 BRAVO: Newly-Diagnosed Brain Stem Gliomas Treated With Adoptive Cellular Therapy During Recovery From Focal Radiotherapy Alone or Focal Radiotherapy and Dose-intensified Temozolomide (Phase I) Recruiting NCT03396575 Phase 1 Cyclophosphamide + Fludarabine Lymphodepletive Conditioning;Dose-Intensified TMZ;Td vaccine
35 A Safety and Preliminary Efficacy Trial of MK-3475 (Pembrolizumab; Anti-PD-1) in Children With Recurrent, Progressive or Refractory Diffuse Intrinsic Pontine Glioma (DIPG), Non-Brainstem High-Grade Gliomas (NB-HGG), Ependymoma, Medulloblastoma or Hypermutated Brain Tumors Recruiting NCT02359565 Phase 1
36 Phase 1 Clinical Trial of Autologous GD2 Chimeric Antigen Receptor (CAR) T Cells (GD2CART) for Diffuse Intrinsic Pontine Gliomas (DIPG) and Spinal Diffuse Midline Glioma (DMG) Recruiting NCT04196413 Phase 1 GD2 CAR T cells;Fludarabine;Cyclophosphamide
37 Phase 1 Trial of Marizomib Alone and in Combination With Panobinostat for Children With Diffuse Intrinsic Pontine Glioma Recruiting NCT04341311 Phase 1 Marizomib;Panobinostat
38 Abemaciclib in Children With Newly Diagnosed Diffuse Intrinsic Pontine Glioma, and in Children With Recurrent and Refractory Solid Tumors Including Malignant Brain Tumors Recruiting NCT02644460 Phase 1 Abemaciclib
39 A Phase I Study of Savolitinib in Recurrent, Progressive or Refractory Medulloblastoma, High-Grade Glioma, Diffuse Intrinsic Pontine Glioma, and CNS Tumors Harboring MET Aberrations Recruiting NCT03598244 Phase 1 Savolitinib
40 ONC201 in Newly Diagnosed Diffuse Intrinsic Pontine Glioma and Recurrent/Refractory Pediatric H3 K27M Gliomas Recruiting NCT03416530 Phase 1 ONC201
41 A Phase I Study Examining the Feasibility of Intermittent Convection-Enhanced Delivery (CED) of MTX110 for the Treatment of Children With Newly Diagnosed Diffuse Midline Gliomas Recruiting NCT04264143 Phase 1 Infusate with MTX110 and gadolinium
42 A Phase I and Early Efficacy Study of Convection Enhanced Delivery of Irinotecan Liposome Injection Using Real Time Imaging With Gadolinium in Children With Diffuse Intrinsic Pontine Glioma Recruiting NCT03086616 Phase 1 Convection Enhanced Delivery (CED) of Nanoliposomal irinotecan (nal-IRI)
43 Phase I Study of Autologous T Lymphocytes Expressing GD2-specific Chimeric Antigen and Constitutively Active IL-7 Receptors for the Treatment of Patients With GD2-expressing Brain Tumors (GAIL-B) Recruiting NCT04099797 Phase 1 Cyclophosphamide;Fludarabine
44 A Phase 1b Study of PTC596 in Children With Newly Diagnosed Diffuse Intrinsic Pontine Glioma and High Grade Glioma Recruiting NCT03605550 Phase 1 PTC596
45 Phase 1 Study of B7-H3-Specific CAR T Cell Locoregional Immunotherapy for Diffuse Intrinsic Pontine Glioma/Diffuse Midline Glioma and Recurrent or Refractory Pediatric Central Nervous System Tumors Recruiting NCT04185038 Phase 1
46 Phase I Study to Evaluate the Safety and Tolerability of the CD40 Agonistic Monoclonal Antibody APX005M in Pediatric Subjects With Recurrent/Refractory Brain Tumors and Newly Diagnosed Brain Stem Glioma Recruiting NCT03389802 Phase 1
47 A Phase I Study of Ribociclib and Everolimus Following Radiation Therapy in Children With Newly Diagnosed Non-biopsied Diffuse Pontine Gliomas (DIPG) and RB+ Biopsied DIPG and High Grade Gliomas (HGG) Active, not recruiting NCT03355794 Phase 1 ribociclib;Everolimus
48 A Phase I Study of Suberoylanilide Hydroxamic Acid (SAHA, Vorinostat) With Temsirolimus in Children With Newly Diagnosed or Progressive Diffuse Intrinsic Pontine Glioma (DIPG) Active, not recruiting NCT02420613 Phase 1 Temsirolimus;Vorinostat
49 Phase I Study of GDC-0084, a Brain-Penetrant PI3 Kinase/mTOR Inhibitor, in Pediatric Patients With Newly Diagnosed Diffuse Intrinsic Pontine Glioma or Diffuse Midline Gliomas After Radiation Therapy Active, not recruiting NCT03696355 Phase 1 GDC-0084
50 Phase I Trial of DNX-2401 for Diffuse Intrinsic Pontine Glioma Newly Diagnosed in Pediatric Patients. Active, not recruiting NCT03178032 Phase 1

Search NIH Clinical Center for Diffuse Midline Glioma, H3 K27m-Mutant

Sources

Genetic Tests for Diffuse Midline Glioma, H3 K27m-Mutant

About this section
Sources

Anatomical Context for Diffuse Midline Glioma, H3 K27m-Mutant

About this section

MalaCards organs/tissues related to Diffuse Midline Glioma, H3 K27m-Mutant:

40
Brain, T Cells, Pons, Spinal Cord, Endothelial, Hypothalamus, Pineal
Sources

Publications for Diffuse Midline Glioma, H3 K27m-Mutant

About this section

Articles related to Diffuse Midline Glioma, H3 K27m-Mutant:

(show top 50) (show all 534)
# Title Authors PMID Year
1
T2-FLAIR Mismatch Sign and Response to Radiotherapy in Diffuse Intrinsic Pontine Glioma. 61
33535215 2021
2
Neogenin is Highly Expressed in Diffuse Intrinsic Pontine Glioma and Influences Tumor Invasion. 61
33571520 2021
3
Clinical experience of convection-enhanced delivery (CED) of carboplatin and sodium valproate into the pons for the treatment of diffuse intrinsic pontine glioma (DIPG) in children and young adults after radiotherapy. 61
33575829 2021
4
Transcriptomic Analysis of Diffuse Intrinsic Pontine Glioma (DIPG) Identifies a Targetable ALDH-Positive Subset of Highly Tumorigenic Cancer Stem-like Cells. 61
33106374 2021
5
Neoplastic Myelopathies. 61
33522739 2021
6
OLIG2 maintenance is not essential for diffuse intrinsic pontine glioma cell line growth but regulates tumor phenotypes. 61
33539525 2021
7
Paediatric Gliomas: BRAF and Histone H3 as Biomarkers, Therapy and Perspective of Liquid Biopsies. 61
33557011 2021
8
Dual targeting of polyamine synthesis and uptake in diffuse intrinsic pontine gliomas. 61
33579942 2021
9
Clinical approach to re-irradiation for recurrent diffuse intrinsic pontine glioma. 61
33521824 2021
10
Diffuse intrinsic pontine glioma: current insights and future directions. 61
33423692 2021
11
H3.3-K27M drives neural stem cell-specific gliomagenesis in a human iPSC-derived model. 61
33545065 2021
12
The Prognostic Impact of Radiotherapy in Conjunction with Temozolomide in Diffuse Intrinsic Pontine Glioma: A Systematic Review and Meta-Analysis. 61
33476781 2021
13
Therapeutic targeting of transcriptional elongation in diffuse intrinsic pontine glioma. 61
33471107 2021
14
Epigenetic-Targeted Treatments for H3K27M-Mutant Midline Gliomas. 61
33155139 2021
15
ALK2 Receptor Kinase Association with FKBP12.6 Is Structurally Conserved with the ALK2-FKBP12 Complex. 61
33572801 2021
16
Tumor genotype dictates radiosensitization after Atm deletion in primary brainstem glioma models. 61
32990677 2021
17
A pilot radiogenomic study of DIPG reveals distinct subgroups with unique clinical trajectories and therapeutic targets. 61
33431066 2021
18
A rare case of adult diffuse midline glioma with H3 K27M mutant in the prepontine cistern. 61
33435779 2021
19
Pilot Study of Hyperpolarized 13C Metabolic Imaging in Pediatric Patients with Diffuse Intrinsic Pontine Glioma and Other CNS Cancers. 61
33272950 2021
20
Histone H3K27M Mutation in Brain Tumors. 61
33155136 2021
21
Histone Lysine-to-Methionine Mutation as Anticancer Drug Target. 61
33155140 2021
22
Immune-stimulatory (TK/Flt3L) gene therapy opens the door to a promising new treatment strategy against brainstem gliomas. 61
33400737 2020
23
Mass cytometry detects H3.3K27M-specific vaccine responses in diffuse midline glioma. 61
32817593 2020
24
Brain cancer induces systemic immunosuppression through release of non-steroid soluble mediators. 61
33253355 2020
25
Ad-CD40L mobilizes CD4 T cells for the treatment of brainstem tumors. 61
32459315 2020
26
Epidemiology of Brainstem High-Grade Gliomas in Children and Adolescents in the United States, 2000-2017. 61
33346835 2020
27
Mesenchymal Stem Cells Successfully Deliver Oncolytic Virotherapy to Diffuse Intrinsic Pontine Glioma. 61
33272983 2020
28
Radiologic findings and the molecular expression profile of diffuse midline glioma H3 K27M mutant. 61
33175579 2020
29
MRI-guided focused ultrasound enhances drug delivery in experimental diffuse intrinsic pontine glioma. 61
33188825 2020
30
Diffuse midline glioma H3 K27M-mutant in adults: A report of six cases and literature review. 61
33191898 2020
31
MR imaging features of diffuse intrinsic pontine glioma and relationship to overall survival: report from the International DIPG Registry. 61
32506137 2020
32
OKlahoma Nitrone-007: novel treatment for diffuse intrinsic pontine glioma. 61
33168005 2020
33
Diffuse Intrinsic Pontine Glioma Cells Are Vulnerable to Mitotic Abnormalities Associated with BMI-1 Modulation. 61
32801164 2020
34
Histone tail analysis reveals H3K36me2 and H4K16ac as epigenetic signatures of diffuse intrinsic pontine glioma. 61
33239043 2020
35
Epigenetic pathways and plasticity in brain tumors. 61
32877743 2020
36
Diffuse infiltrative pontine glioma biopsy in children with neuronavigation, frameless procedure: A single center experience of 10 cases. 61
32860812 2020
37
Targeting tumor hypoxia and mitochondrial metabolism with anti-parasitic drugs to improve radiation response in high-grade gliomas. 61
33028364 2020
38
Diffuse midline glioma: review of epigenetics. 61
32804378 2020
39
A combined approach of convection-enhanced delivery of peptide nanofiber reservoir to prolong local DM1 retention for diffuse intrinsic pontine glioma treatment. 61
32301996 2020
40
A Novel Orthotopic Patient-Derived Xenograft Model of Radiation-Induced Glioma Following Medulloblastoma. 61
33053751 2020
41
A 2-year-old patient with a diffuse intrinsic pontine glioma and radiation-induced moyamoya syndrome. 61
33460219 2020
42
Senescence Induced by BMI1 Inhibition Is a Therapeutic Vulnerability in H3K27M-Mutant DIPG. 61
33086074 2020
43
Hypofractionated radiotherapy versus conventional radiotherapy for diffuse intrinsic pontine glioma: A systematic review and meta-analysis. 61
33080729 2020
44
Integration of Multiple Platforms for the Analysis of Multifluorescent Marking Technology Applied to Pediatric GBM and DIPG. 61
32942636 2020
45
A phase I trial of lenalidomide and radiotherapy in children with diffuse intrinsic pontine gliomas or high-grade gliomas. 61
33040274 2020
46
Leveraging an Open Science Drug Discovery Model to Develop CNS-Penetrant ALK2 Inhibitors for the Treatment of Diffuse Intrinsic Pontine Glioma. 61
32787083 2020
47
Development of a clinical scale for assessment of patients with diffuse intrinsic pontine glioma (DIPG) receiving experimental therapy: the PONScore. 61
32902768 2020
48
A phase I/II study of ribociclib following radiation therapy in children with newly diagnosed diffuse intrinsic pontine glioma (DIPG). 61
33034839 2020
49
Design of primers for direct sequencing of nine coding exons in the human ACVR1 gene. 61
32512165 2020
50
Bone morphogenetic protein receptors: Structure, function and targeting by selective small molecule kinase inhibitors. 61
32522605 2020
Sources

Variations for Diffuse Midline Glioma, H3 K27m-Mutant

About this section

ClinVar genetic disease variations for Diffuse Midline Glioma, H3 K27m-Mutant:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACVR1 NM_001111067.4(ACVR1):c.983G>T (p.Gly328Val) SNV other 376363 rs387906589 2:158622516-158622516 2:157766004-157766004
2 BRCA2 NM_000059.3(BRCA2):c.4474_4477AAAG[1] (p.Glu1493fs) Microsatellite Pathogenic 51653 rs80359454 13:32912965-32912968 13:32338828-32338831
3 CHEK2 NM_007194.4(CHEK2):c.1100del (p.Thr367fs) Deletion Pathogenic 128042 rs555607708 22:29091857-29091857 22:28695869-28695869
4 BRIP1 NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) SNV Likely pathogenic 30535 rs149364097 17:59878709-59878709 17:61801348-61801348
5 NF1 NM_000267.3(NF1):c.1888G>A (p.Val630Ile) SNV Uncertain significance 220148 rs751795238 17:29552155-29552155 17:31225137-31225137
Sources

Expression for Diffuse Midline Glioma, H3 K27m-Mutant

About this section
Search GEO for disease gene expression data for Diffuse Midline Glioma, H3 K27m-Mutant.
Sources

Pathways for Diffuse Midline Glioma, H3 K27m-Mutant

About this section

Pathways related to Diffuse Midline Glioma, H3 K27m-Mutant according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 65
Show member pathways
 14.17 PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
2
Innate Immune System 65
Show member pathways
 13.97 PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
3
Apoptotic Pathways in Synovial Fibroblasts 63
Show member pathways
 13.93 PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
4
ERK Signaling 63
Show member pathways
 13.91 PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
5
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 65
Show member pathways
 13.89 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
6
Gene Expression 65
Show member pathways
 13.89 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
7
Metabolism of proteins 65
Show member pathways
 13.86 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
8
Activation of cAMP-Dependent PKA 63
Show member pathways
 13.67 PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
9
TGF-Beta Pathway 63
Show member pathways
 13.64 PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
10
Developmental Biology 65
Show member pathways
 13.6 PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
11
Cytokine Signaling in Immune system 65
Show member pathways
 13.46 PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
12
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 13.43 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
13
Cellular Senescence (REACTOME) 65
Show member pathways
 13.28 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
14
RNA Polymerase II Transcription Initiation And Promoter Clearance 65
Show member pathways
 13.18 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
15
Signaling by Rho GTPases 65
Show member pathways
 13.18 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
16
Chromatin organization 65
Show member pathways
 13.14 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
17
Signaling by Wnt 65
Show member pathways
 12.83 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
18
Cell Cycle, Mitotic 65
Show member pathways
 12.69 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
19
Shigellosis 36
12.6 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
20
Mitotic Prophase 65
Show member pathways
 12.59 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
21
Transcriptional misregulation in cancer 36
12.52 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
22
DNA Damage 4
12.5 MGMT H3C1 CHEK2 BRIP1 BRCA2
23
UVA-Induced MAPK Signaling 63
Show member pathways
 12.37 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
24
PKMTs methylate histone lysines 65
Show member pathways
 12.33 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
25
Factors involved in megakaryocyte development and platelet production 65
12.3 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
26
Meiosis 65
Show member pathways
 12.26 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
27
Interferon Pathway 63
12.11 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
28
Interleukin-7 signaling 65
11.64 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
Sources

GO Terms for Diffuse Midline Glioma, H3 K27m-Mutant

About this section

Cellular components related to Diffuse Midline Glioma, H3 K27m-Mutant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.35 PDGFRA MGMT H3C8 H3C7 H3C6 H3C4
2 nucleoplasm GO:0005654 10.25 PDGFRA MGMT H3C8 H3C7 H3C6 H3C4
3 extracellular exosome GO:0070062 10.22 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
4 extracellular region GO:0005576 10.21 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
5 nuclear chromosome GO:0000228 10.03 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
6 protein-containing complex GO:0032991 10 PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
7 nucleosome GO:0000786 9.8 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
8 chromosome, telomeric region GO:0000781 9.76 H3-3B H3-3A CHEK2 BRCA2
9 chromosome GO:0005694 9.5 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
10 Barr body GO:0001740 9.48 H3-3B H3-3A

Biological processes related to Diffuse Midline Glioma, H3 K27m-Mutant according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 10.21 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
2 regulation of gene silencing by miRNA GO:0060964 10.21 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
3 regulation of gene silencing GO:0060968 10.19 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
4 interleukin-7-mediated signaling pathway GO:0038111 10.18 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
5 negative regulation of gene expression, epigenetic GO:0045814 10.18 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
6 DNA replication-dependent nucleosome assembly GO:0006335 10.16 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
7 regulation of megakaryocyte differentiation GO:0045652 10.15 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
8 cellular protein metabolic process GO:0044267 10.1 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
9 telomere organization GO:0032200 10.03 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
10 blood coagulation GO:0007596 9.93 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
11 male gonad development GO:0008584 9.77 H3-3B H3-3A BRIP1
12 spermatid development GO:0007286 9.75 H3-3B H3-3A BRIP1
13 double-strand break repair GO:0006302 9.74 CHEK2 BRIP1 BRCA2
14 nucleosome assembly GO:0006334 9.73 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
15 muscle cell differentiation GO:0042692 9.6 H3-3B H3-3A
16 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.58 CHEK2 BRCA2
17 pericentric heterochromatin assembly GO:0031508 9.56 H3-3B H3-3A
18 regulation of centromere complex assembly GO:0090230 9.55 H3-3B H3-3A
19 negative regulation of chromosome condensation GO:1902340 9.54 H3-3B H3-3A
20 telomeric heterochromatin assembly GO:0031509 9.52 H3-3B H3-3A
21 chromatin silencing at rDNA GO:0000183 9.4 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2

Molecular functions related to Diffuse Midline Glioma, H3 K27m-Mutant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.09 MGMT H3C8 H3C7 H3C6 H3C4 H3C3
2 cadherin binding GO:0045296 9.7 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
3 protein heterodimerization activity GO:0046982 9.47 H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
4 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.26 H3-3B H3-3A
Sources

Sources for Diffuse Midline Glioma, H3 K27m-Mutant

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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
Content
Loading form....