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DIPG
MCID: DFF039
MIFTS: 36

Diffuse Midline Glioma, H3 K27m-Mutant (DIPG)

Categories: Bone diseases, Cancer diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Diffuse Midline Glioma, H3 K27m-Mutant

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

Name: Diffuse Midline Glioma, H3 K27m-Mutant 12
Diffuse Intrinsic Pontine Glioma 12 52 58 6 17
Dipg 52 58
Infiltrative Brainstem Glioma 52

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 49 C129309
Orphanet 58 ORPHA497188
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Summaries for Diffuse Midline Glioma, H3 K27m-Mutant

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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 brain cancer and glioblastoma multiforme. An important gene associated with Diffuse Midline Glioma, H3 K27m-Mutant is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Etoposide and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include brain, t cells and testes.

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Related Diseases for Diffuse Midline Glioma, H3 K27m-Mutant

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 brain cancer 30.3 MGMT BRCA2
2 glioblastoma multiforme 30.1 MGMT BRCA2
3 medulloblastoma 29.0 MGMT BRCA2
4 glioma 10.7
5 glial tumor 10.7
6 neutropenia 10.4
7 brain tumor, childhood 10.4
8 astrocytoma 10.4
9 grade iii astrocytoma 10.4
10 paraplegia 10.4
11 fibrillary astrocytoma 10.4
12 hydrocephalus 10.4
13 cranial nerve palsy 10.4
14 ataxia and polyneuropathy, adult-onset 10.3
15 thrombocytopenia 10.3
16 juvenile pilocytic astrocytoma 10.3
17 fibrodysplasia ossificans progressiva 10.3
18 retinoblastoma 10.3
19 respiratory failure 10.3
20 facial paralysis 10.3
21 familial retinoblastoma 10.3
22 lymphopenia 10.3
23 alopecia 10.3
24 newcastle disease 10.1
25 glioma susceptibility 1 10.1
26 hydrocephalus, congenital, 1 10.1
27 thrombocytopenia 3 10.1
28 thrombocytopenia 1 10.1
29 wilms tumor 5 10.1
30 exanthem 10.1
31 neonatal respiratory failure 10.1
32 obstructive hydrocephalus 10.1
33 communicating hydrocephalus 10.1
34 malignant glioma 10.1
35 vaccinia 10.1
36 craniopharyngioma 10.1
37 brain stem glioma 10.1
38 hypokalemia 10.1
39 benign ependymoma 10.1
40 cellular ependymoma 10.1
41 neuroblastoma 10.1
42 neurofibromatosis 10.1
43 intracranial hypertension 10.1
44 47,xyy 10.1
45 subependymoma 10.1
46 high-grade astrocytoma 10.1
47 benign idiopathic neonatal seizures 10.1
48 rare tumor 10.1
49 polyploidy 10.1
50 gliomatosis cerebri 10.0

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



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

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

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

(show top 50) (show all 112)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 3 33419-42-0 36462
2
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
3
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
4
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
5
leucovorin Approved Phase 3 58-05-9 6006 143
6
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
7
Ifosfamide Approved Phase 3 3778-73-2 3690
8
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
9
Gemcitabine Approved Phase 2, Phase 3 95058-81-4 60750
10
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
11
chloroquine Approved, Investigational, Vet_approved Phase 3 54-05-7 2719
12
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
13
Nimotuzumab Investigational Phase 2, Phase 3 828933-61-3, 780758-10-3
14 Immunosuppressive Agents Phase 3
15 Antimetabolites Phase 3
16 Etoposide phosphate Phase 3
17 Tubulin Modulators Phase 3
18 Antimitotic Agents Phase 3
19 Dermatologic Agents Phase 3
20 Hormones Phase 3
21 Antineoplastic Agents, Hormonal Phase 3
22 Vitamin B Complex Phase 3
23 Hormone Antagonists Phase 3
24 Folic Acid Antagonists Phase 3
25 Folate Phase 3
26 glucocorticoids Phase 3
27
Isophosphamide mustard Phase 3 0
28 Calcium, Dietary Phase 3
29 Anti-Inflammatory Agents Phase 3
30 Vitamin B9 Phase 3
31 Antibodies Phase 2, Phase 3
32 Antibodies, Monoclonal Phase 2, Phase 3
33 Immunoglobulins Phase 2, Phase 3
34 Antineoplastic Agents, Immunological Phase 2, Phase 3
35 Anti-Infective Agents Phase 3
36 Antirheumatic Agents Phase 3
37 Psychotropic Drugs Phase 3
38 Antiparasitic Agents Phase 3
39 Amebicides Phase 3
40 Pharmaceutical Solutions Phase 3
41 Chloroquine diphosphate Phase 3 50-63-5
42 Antiprotozoal Agents Phase 3
43 Neurotransmitter Agents Phase 3
44 Anticonvulsants Phase 3
45 Antimalarials Phase 3
46
Calcium Nutraceutical Phase 3 7440-70-2 271
47
Lomustine Approved, Investigational Phase 2 13010-47-4 3950
48
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
49
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
50
Irinotecan Approved, Investigational Phase 1, Phase 2 97682-44-5, 100286-90-6 60838

Interventional clinical trials:

(show top 50) (show all 87)
# Name Status NCT ID Phase Drugs
1 Prospective Randomized Trial of Two Hypofractionated Radiotherapy Regimens Versus Conventional Radiotherapy in Pediatric Diffuse Brainstem Glioma Unknown status NCT01878266 Phase 3
2 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
3 Prospective Randomized Trial of Hypofractionated Radiotherapy Versus Conventional Radiotherapy in Diffuse Brainstem Glioma in Children. Completed NCT01635140 Phase 3
4 A RANDOMIZED, MULTICENTER, PHASE IIB/IIIA STUDY OF GEMCITABINE AND THE MONOCLONAL ANTIBODY NIMOTUZUMAB (OSAG 101) VERSUS GEMCITABINE AND PLACEBO FOR THE TREATMENT OF CHEMOTHERAPY-NAIVE PATIENTS WITH LOCALLY ADVANCED OR METASTATIC PANCREATIC CANCER Completed NCT00561990 Phase 2, Phase 3 Nimotuzumab
5 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;Temozolomide + Chloroquine
6 A Randomized Phase 3 Study of Combination Antineoplaston Therapy [Antineoplastons A10 (Atengenal) and AS2-1 (Astugenal)] Plus Radiation Therapy vs. Radiation Therapy Only in Subjects With Newly Diagnosed Diffuse, Intrinsic, Brainstem Glioma Not yet recruiting NCT02887040 Phase 3 Atengenal;Astugenal
7 A Phase I/ II Clinical Trial of MDV9300 (Pidilizumab) in Diffuse Intrinsic Pontine Glioma Unknown status NCT01952769 Phase 1, Phase 2
8 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) Unknown status NCT02607124 Phase 1, Phase 2 Ribociclib
9 Phase 2 Study of Safety and Efficacy of Nimotuzumab (TheraCIM®) in Pediatric Patients With Recurrent Diffuse Intrinsic Pontine Glioma Completed NCT00600054 Phase 2
10 Palliative Re-irradiation for Progressive Diffuse Intrinsic Pontine Glioma (DIPG) in Children Completed NCT01777633 Phase 1, Phase 2
11 A Phase 1/2 Study of DSP-7888 in Pediatric Patients With Relapsed or Refractory High Grade Gliomas Completed NCT02750891 Phase 1, Phase 2 DSP-7888
12 A Phase II Study of Temozolomide in the Treatment of Children With High Grade Glioma Completed NCT00028795 Phase 2 temozolomide
13 A Phase 1-2 Dose Finding, Safety and Efficacy Study of Cabazitaxel in Pediatric Patients With Refractory Solid Tumors Including Tumors of the Central Nervous System Completed NCT01751308 Phase 1, Phase 2 Cabazitaxel (XRP6258)
14 INTELLANCE-2: ABT-414 Alone or ABT-414 Plus Temozolomide Versus Lomustine or Temozolomide for Recurrent Glioblastoma: A Randomized Phase 2 Study of the EORTC Brain Tumor Group Completed NCT02343406 Phase 2 Depatuxizumab mafodotin;Temozolomide;Lomustine
15 A Phase II Study of Pegylated Interferon Alfa-2b (Peg-Intron (TM)) in Children With Diffuse Pontine Gliomas Completed NCT00036569 Phase 2
16 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
17 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) Recruiting NCT02758366 Phase 2 Doxorubicin
18 A Phase 2 Study of Dasatinib in Combination With Everolimus for Children With Gliomas Harboring PDGFR Alterations Recruiting NCT03352427 Phase 2 Dasatinib;Everolimus
19 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
20 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)
21 A Study of Low Dose Bevacizumab With Conventional Radiotherapy Alone in Diffuse Intrinsic Pontine Glioma Recruiting NCT04250064 Phase 2 Bevacizumab Injection
22 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
23 Biological Medicine for Diffuse Intrinsic Pontine Glioma (DIPG) Eradication Recruiting NCT02233049 Phase 2 Erlotinib;Everolimus;Dasatinib
24 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
25 A Phase I Study of Mebendazole for the Treatment of Pediatric Gliomas Recruiting NCT01837862 Phase 1, Phase 2 Mebendazole;Vincristine;Carboplatin;Temozolomide;Bevacizumab;Irinotecan
26 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)
27 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)
28 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
29 A PHASE 2 CLINICAL STUDY OF POMALIDOMIDE (CC-4047) MONOTHERAPY FOR CHILDREN AND YOUNG ADULTS WITH RECURRENT OR PROGRESSIVE PRIMARY BRAIN TUMORS Active, not recruiting NCT03257631 Phase 2 Pomalidomide;Pomalidomide
30 Phase I/II Study of Reirradiation of Recurrent or Progressive Brainstem Glioma Active, not recruiting NCT01469247 Phase 1, Phase 2
31 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
32 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
33 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
34 A Phase II, Open-label, Multi-center Study of Erivedge (Vismodegib) in the Treatment of Pediatric Patients With Refractory Pontine Glioma. Terminated NCT01774253 Phase 2 Vismodegib
35 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
36 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
37 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
38 Intra-arterial Chemotherapy for the Treatment of Progressive Diffuse Intrinsic Pontine Gliomas (DIPG). Completed NCT01688401 Phase 1 Melphalan hydrochloride
39 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
40 Phase I Trial of DNX-2401 for Diffuse Intrinsic Pontine Glioma Newly Diagnosed in Pediatric Patients. Completed NCT03178032 Phase 1
41 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
42 A Phase I Trial of Lenalidomide and Radiotherapy in Children With Diffuse Intrinsic Pontine Gliomas and High-grade Gliomas Completed NCT01222754 Phase 1 Lenalidomide
43 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
44 A Phase I Study of Motexafin Gadolinium (Xcytrin, NSC 695238) and Involved Field Radiation Therapy for Intrinsic Pontine Glioma of Childhood Completed NCT00003909 Phase 1 motexafin gadolinium
45 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)
46 ONC201 in Newly Diagnosed Diffuse Intrinsic Pontine Glioma and Recurrent/Refractory Pediatric H3 K27M Gliomas Recruiting NCT03416530 Phase 1 ONC201
47 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
48 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
49 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
50 Phase 1 Trial of Panobinostat in Children With Diffuse Intrinsic Pontine Glioma Recruiting NCT02717455 Phase 1 LBH589

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

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Genetic Tests for Diffuse Midline Glioma, H3 K27m-Mutant

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Anatomical Context for Diffuse Midline Glioma, H3 K27m-Mutant

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

40
Brain, T Cells, Testes, Bone, Lung, Pons, Spinal Cord
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Publications for Diffuse Midline Glioma, H3 K27m-Mutant

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

(show top 50) (show all 471)
# Title Authors PMID Year
1
Decreased natural killer cells in diffuse intrinsic pontine glioma patients. 61
32418048 2020
2
Improving long-term survival in diffuse intrinsic pontine glioma. 61
32543245 2020
3
Correction to: Comparative multidimensional molecular analyses of pediatric diffuse intrinsic pontine glioma reveals distinct molecular subtypes. 61
32562017 2020
4
Design of primers for direct sequencing of nine coding exons in the human ACVR1 gene. 61
32512165 2020
5
Bone morphogenetic protein receptors: Structure, function and targeting by selective small molecule kinase inhibitors. 61
32522605 2020
6
A phase 2 study of valproic acid and radiation, followed by maintenance valproic acid and bevacizumab in children with newly diagnosed diffuse intrinsic pontine glioma or high-grade glioma. 61
32285998 2020
7
A phase I/II study of veliparib (ABT-888) with radiation and temozolomide in newly diagnosed diffuse pontine glioma: a Pediatric Brain Tumor Consortium study. 61
32009149 2020
8
Identification of new therapeutic targets and natural compounds against diffuse intrinsic pontine glioma (DIPG). 61
32311581 2020
9
MR Imaging features of Diffuse Intrinsic Pontine Glioma (DIPG) and Relationship to Overall Survival: Report from the International DIPG Registry. 61
32506137 2020
10
Response assessment in diffuse intrinsic pontine glioma: recommendations from the Response Assessment in Pediatric Neuro-Oncology (RAPNO) working group. 61
32502459 2020
11
Development of a human in vitro blood-brain tumor barrier model of diffuse intrinsic pontine glioma to better understand the chemoresistance. 61
32487241 2020
12
Longitudinal Monitoring of Gd-DTPA Following Convection Enhanced Delivery in the Brainstem. 61
32028001 2020
13
Addition of Multimodal Immunotherapy to Combination Treatment Strategies for Children with DIPG: A Single Institution Experience. 61
32438648 2020
14
Ad-CD40L mobilizes CD4 T cells for the treatment of brainstem tumors. 61
32459315 2020
15
Tumor Response Assessment in Diffuse Intrinsic Pontine Glioma: Comparison of Semiautomated Volumetric, Semiautomated Linear, and Manual Linear Tumor Measurement Strategies. 61
32354716 2020
16
Targeting ALK2: An Open Science Approach to Developing Therapeutics for the Treatment of Diffuse Intrinsic Pontine Glioma. 61
32369358 2020
17
Oxaliplatin and [Pt(R,R-DACH)(panobinostat-2H)] show nanomolar cytotoxicity towards diffuse intrinsic pontine glioma (DIPG). 61
32297619 2020
18
ABC Transporter Inhibition Plus Dexamethasone Enhances the Efficacy of Convection Enhanced Delivery in H3.3K27M Mutant Diffuse Intrinsic Pontine Glioma. 61
31225627 2020
19
Rare Diffuse Intrinsic Pontine Glioma Metastasis Throughout the Brain and Spine. 61
32474088 2020
20
Overcoming the Blood-Brain Barrier to Target Diffuse Intrinsic Pontine Glioma: What's New? 61
32389870 2020
21
MR Imaging Correlates for Molecular and Mutational Analyses in Children with Diffuse Intrinsic Pontine Glioma. 61
32381545 2020
22
A phase I study of sirolimus in combination with metronomic therapy (CHOAnome) in children with recurrent or refractory solid and brain tumors. 61
31876107 2020
23
Retrospective analysis on the consistency of MRI features with histological and molecular markers in diffuse intrinsic pontine glioma (DIPG). 61
31848724 2020
24
Characterizing the pharmacokinetics of panobinostat in a non-human primate model for the treatment of diffuse intrinsic pontine glioma. 61
31894347 2020
25
Characterization of the Blood-Brain Barrier Integrity and the Brain Transport of SN-38 in an Orthotopic Xenograft Rat Model of Diffuse Intrinsic Pontine Glioma. 61
32349240 2020
26
Clinical, imaging, and molecular analysis of pediatric pontine tumors lacking characteristic imaging features of DIPG. 61
32326973 2020
27
Therapeutic Efficacy of Immune Stimulatory Thymidine Kinase and fms-like Tyrosine Kinase 3 Ligand (TK/Flt3L) Gene Therapy in a Mouse Model of High-Grade Brainstem Glioma. 61
32332014 2020
28
Sequential Targeting in Crosslinking Nanotheranostics for Tackling the Multibarriers of Brain Tumors. 61
32078198 2020
29
Pontine Embryonal Tumor With Multilayered Rosettes: An Autopsy Case Exhibiting Extensive Posttreatment Glial and Neuronal Maturation. 61
32282273 2020
30
PRIMAGE project: predictive in silico multiscale analytics to support childhood cancer personalised evaluation empowered by imaging biomarkers. 61
32246291 2020
31
Biopsy in diffuse pontine gliomas: expert neurosurgeon opinion-a survey from the SIOPE brain tumor group. 61
32020269 2020
32
Advanced ADC Histogram, Perfusion, and Permeability Metrics Show an Association with Survival and Pseudoprogression in Newly Diagnosed Diffuse Intrinsic Pontine Glioma: A Report from the Pediatric Brain Tumor Consortium. 61
32241771 2020
33
High Prevalence of Developmental Venous Anomaly in Diffuse Intrinsic Pontine Gliomas: A Pediatric Control Study. 61
31342064 2020
34
Recent perspectives of molecular aberrations in pediatric high-grade glioma. 61
28643992 2020
35
A Combined Approach of Convection-Enhanced Delivery of Peptide Nanofiber Reservoir to Prolong Delivery of DM1 for Diffuse Intrinsic Pontine Glioma Treatment. 61
32301996 2020
36
Differential kinase activity of ACVR1 G328V and R206H mutations with implications to possible TβRI cross-talk in diffuse intrinsic pontine glioma. 61
32273545 2020
37
Indolent course of brainstem tumors with K27M-H3.3 mutation. 61
31793190 2020
38
Generation of diffuse intrinsic pontine glioma mouse models by brainstem-targeted in utero electroporation. 61
31638150 2020
39
Combined Therapy of AXL and HDAC Inhibition Reverses Mesenchymal Transition in Diffuse Intrinsic Pontine Glioma. 61
32165429 2020
40
Diffuse intrinsic pontine glioma-like tumor with EZHIP expression and molecular features of PFA ependymoma. 61
32197665 2020
41
Defining Optimal Target Volumes of Conformal Radiation Therapy for Diffuse Intrinsic Pontine Glioma. 61
31785339 2020
42
Targeting Mutant PPM1D Sensitizes Diffuse Intrinsic Pontine Glioma Cells to the PARP Inhibitor Olaparib. 61
32229503 2020
43
Radiation dose response of neurologic symptoms during conformal radiotherapy for diffuse intrinsic pontine glioma. 61
32016716 2020
44
Genomic and Phenotypic Characterization of a Broad Panel of Patient-Derived Xenografts Reflects the Diversity of Glioblastoma. 61
31852831 2020
45
Proton therapy for newly diagnosed pediatric diffuse intrinsic pontine glioma. 61
31728705 2020
46
Pulvinar Locus is Highly Relevant to Patients' Outcomes in Surgically Resected Thalamic Gliomas in Children. 61
31704359 2020
47
H3F3A mutant allele specific imbalance in an aggressive subtype of diffuse midline glioma, H3 K27M-mutant. 61
32019606 2020
48
A case of diffuse midline glioma, H3 K27M mutant mimicking a hemispheric malignant glioma in an elderly patient. 61
31762138 2020
49
Epigenetic reprogramming and chromatin accessibility in pediatric diffuse intrinsic pontine gliomas: a neural developmental disease. 61
32078691 2020
50
MRI Patterns of Extrapontine Lesion Extension in Diffuse Intrinsic Pontine Gliomas. 61
31974084 2020
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Variations for Diffuse Midline Glioma, H3 K27m-Mutant

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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)short repeat Pathogenic 51653 rs80359454 13:32912965-32912968 13:32338828-32338831
3 BRIP1 NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro)SNV Likely pathogenic 30535 rs149364097 17:59878709-59878709 17:61801348-61801348
4 CHEK2 NM_007194.4(CHEK2):c.1100del (p.Thr367fs)deletion Conflicting interpretations of pathogenicity 128042 rs555607708 22:29091857-29091857 22:28695869-28695869
5 NF1 NM_000267.3(NF1):c.1888G>A (p.Val630Ile)SNV Uncertain significance 220148 rs751795238 17:29552155-29552155 17:31225137-31225137
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Expression for Diffuse Midline Glioma, H3 K27m-Mutant

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Search GEO for disease gene expression data for Diffuse Midline Glioma, H3 K27m-Mutant.
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Pathways for Diffuse Midline Glioma, H3 K27m-Mutant

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

# Super pathways Score Top Affiliating Genes
1
DNA Double-Strand Break Repair 65
Show member pathways
 12.16 MGMT BRCA2
2
Chks in Checkpoint Regulation 63
Show member pathways
 11.56 MGMT BRCA2
3
DNA Damage 4
11.09 MGMT BRCA2
Sources

GO Terms for Diffuse Midline Glioma, H3 K27m-Mutant

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 8.96 MGMT BRCA2
2 DNA repair GO:0006281 8.62 MGMT BRCA2
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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
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