MDB
MCID: MDL005
MIFTS: 78

Medulloblastoma (MDB)

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

Aliases & Classifications for Medulloblastoma

MalaCards integrated aliases for Medulloblastoma:

Name: Medulloblastoma 57 12 75 53 59 74 37 29 13 55 6 44 15 40 17 72
Mdb 57 53 74
Localized Primitive Neuroectodermal Tumor 12 72
Medulloblastoma with Extensive Nodularity 59 6
Medulloblastoma, Desmoplastic 57 6
Desmoplastic Medulloblastoma 17 72
Classic Medulloblastoma 59 72
Cpnet 12 72
Infratentorial Primitive Neuroectodermal Tumor 12
Medulloblastoma, with Extensive Nodularity 72
Desmoplastic/nodular Medulloblastoma 59
Neuroectodermal Tumors, Primitive 44
Medulloblastoma Desmoplastic 55
Medulloblastoma, Somatic 57
Brain Medulloblastoma 12
Cns Pnet 12
Mben 59

Characteristics:

Orphanet epidemiological data:

59
medulloblastoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe),1-9/1000000 (United States); Age of onset: All ages; Age of death: adolescent,adult,early childhood,infantile,late childhood,young Adult;
classic medulloblastoma
Age of onset: Childhood;
desmoplastic/nodular medulloblastoma
Inheritance: Not applicable; Age of onset: Adult;
medulloblastoma with extensive nodularity
Inheritance: Not applicable; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
Miscellaneous:
incomplete penetrance

Inheritance:
autosomal recessive
autosomal dominant
somatic


HPO:

32
medulloblastoma:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050902
OMIM 57 155255
KEGG 37 H01667
MESH via Orphanet 45 D008527
ICD10 via Orphanet 34 C71.6
UMLS via Orphanet 73 C0025149 C0751291
UMLS 72 C0025149 C0206663 C0751291 more

Summaries for Medulloblastoma

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 616DefinitionMedulloblastoma (MB) is an embryonic tumor of the neuroepithelial tissue and the most frequent primary pediatric solid malignancy. MB represents a heterogeneous group of cerebellar tumors characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia.EpidemiologyMB is the most common malignant brain tumor in childhood. Annual incidence is estimated at 1/909,000 in Europe. Males are more affected than females.Clinical descriptionAge of disease onset is variable and can occur in patients ranging in age from the newborn period to adulthood (peak age at presentation is children 3-6 years, with only 25% of patients being between 15 and 44 years). The most common presenting symptoms are headache, vomiting, and ataxia. Additional features that may be observed include lethargy, motor or cranial nerve impairment, gaze palsy, visual impairment due to hydrocephalia, vertigo/hearing loss, behavioral changes/irritability, and extracranial pain (e.g. back pain in those with spinal metastases). Around 30% of pediatric cases present with metastases at diagnosis. Most metastases occur within the central nervous system by seeding via the cerebrospinal fluid (cranial or spinal), while spread to extracranial organs (e.g. bone marrow, liver, lungs) is very rare at diagnosis. In a minority of patients, MB is associated with Gorlin syndrome, familial adenomatous polyposis (FAP; the association of FAP and MB is referred to as the Turcot syndrome with polyposis) or with Li-Fraumeni Syndrome (see these terms). Increased susceptibility to certain tumors (neuroblastoma), hematological malignancies (acute lymphoblastic leukemia, acute myeloid leukemia) or disorders caused by mutations in genes encoding components of the RAS signaling pathway (Noonan syndrome or neurofibromatosis-Noonan syndrome) have been reported in MB (see these terms).EtiologyTo date, the exact etiology of MB is still unknown but genomic data has identified multiple candidate genes that contribute to the pathogenesis of different subgroups of MB. This includes an inhibitor of the sonic hedgehog pathway SUFU (10q24.32), the RNA helicase DDX3X (Xp11.3-p11.23), chromatin regulators KDM6A (Xp11.2) and N-CoR complex genes BCOR (Xp11.4), and the Parkinson's disease genes KMT2D (12q13.12), SMARCA4 (19p13.3), MYCN (2p24.3), and TP53 (17p13.1).Diagnostic methodsMB occurs in the vermis and 20% occurs in the hemispheres of the cerebellum. Histologically, MB is characterized by small, round cells that stain blue with haematoxylin spectrum and appearance ranges from tumors with extensive nodularity to those with large cell/anaplastic features. Apart from classical MB, four histological variants of MB are recognized: anaplastic MB, large cell MB, MB with extensive nodularity, and desmoplastic/nodular MB.Differential diagnosisDifferential diagnosis includes other brain tumors (ependymoma, glial tumor, atypical teratoid rhabdoid tumor; see these terms) and other causes of cerebellar alterations (infectious or cystic lesions, hemorrhages).Management and treatmentInitially, patients need to be checked for increased intracranial pressure, which if present, needs to be controlled either by drugs (e.g. steroids) or by neurosurgical drainage (e.g. external drainage). The postoperative treatment depends on age, histological variant, and result of staging assessments. In children older than 3-5 years, combinations of chemotherapy and craniospinal irradiation are applied. In younger children, brain sparing therapies avoiding irradiation can be administered in very specific constellations.PrognosisThe overall survival rates are now 80% in standard risk patients, and 30-60 % in high-risk patients. Relapses occur in nearly 75% of pediatric cases within 2 years.Visit the Orphanet disease page for more resources.

MalaCards based summary : Medulloblastoma, also known as mdb, is related to childhood medulloblastoma and adult medulloblastoma, and has symptoms including vomiting, gait ataxia and headache. An important gene associated with Medulloblastoma is CTNNB1 (Catenin Beta 1), and among its related pathways/superpathways are Wnt signaling pathway and Hedgehog signaling pathway. The drugs Dexamethasone and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and bone, and related phenotypes are nausea and vomiting and increased intracranial pressure

Disease Ontology : 12 An infratentorial cancer that is located in the lower part of the brain and is a type of primitive neuroectodermal tumor.

OMIM : 57 Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). (155255)

KEGG : 37
Medulloblastoma is the most common embryonal CNS tumor of childhood and is likely composed of biologically different subsets of tumors arising from stem and/or progenitor cells of the cerebellum. Recently, four distinct molecular subgroups of medulloblastoma have been identified [WNT (wingless), SHH (sonic hedgehog), Group 3, and Group 4]. Nearly all (90 %) of WNT patients have somatic missense mutations in CTNNB1 which promote protein stabilization. Alterations in SHH subgroup most often fall within the Shh signalling pathway. The most common are somatic or germline inactivating alterations or loss of PTCH1 and SUFU, or somatic missense mutations activating SMO. Group 3 tumors are characterized by MYC amplification resulting in high MYC mRNA expression levels compared with SHH and Group 4 tumors.The most frequently mutated somatic gene in Group 4 medulloblastoma is KDM6A, a histone H3 Lys27 (H3K27) demethylase.

UniProtKB/Swiss-Prot : 74 Medulloblastoma: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

Wikipedia : 75 Medulloblastoma is the most common type of primary brain cancer in children. It originates in the part... more...

Related Diseases for Medulloblastoma

Diseases in the Medulloblastoma family:

Adult Medulloblastoma

Diseases related to Medulloblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 567)
# Related Disease Score Top Affiliating Genes
1 childhood medulloblastoma 35.6 TP53 SUFU PTCH1
2 adult medulloblastoma 35.6 TP53 SUFU PTCH1 IDH1
3 nodular medulloblastoma 35.5 SUFU PTCH1 CTNNB1
4 basal cell nevus syndrome 34.6 SUFU SMO PTCH2 PTCH1
5 cerebellar liponeurocytoma 34.1 TP53 SUFU PTCH1
6 basal cell carcinoma 32.8 TP53 SUFU SMO PTCH2 PTCH1 CTNNB1
7 brain cancer 32.8 TP53 PTCH1 PIK3CA NRAS IDH1 CTNNB1
8 glioblastoma 32.6 TP53 PIK3CA NRAS MIR34A MIR326 IDH1
9 infratentorial cancer 32.3 TP53 SUFU PTCH1 CTNNB1
10 cerebellar astrocytoma 31.8 TP53 IDH1
11 carcinosarcoma 31.8 TP53 PIK3CA CTNNB1
12 adenocarcinoma 31.6 TP53 PIK3CA FGFR1 CTNNB1
13 nervous system cancer 31.6 TP53 PTCH1 IDH1
14 li-fraumeni syndrome 31.6 TP53 IDH1 BRCA2
15 endocrine gland cancer 31.5 TP53 CTNNB1 BRCA2
16 central nervous system cancer 31.4 TP53 SUFU PTCH1 IDH1
17 brain stem glioma 31.4 TP53 PIK3CA IDH1 FGFR1
18 breast carcinoma in situ 31.3 TP53 FGFR1 BRCA2
19 glioma 31.3 TP53 PIK3CA MIR34A MIR20A MIR19A MIR17
20 gliosarcoma 31.3 TP53 IDH1 FGFR1
21 leukemia, acute myeloid 31.2 TP53 NRAS MIR326 MIR199B MIR125A IDH1
22 ovarian cancer 31.0 TP53 PIK3CA MIR199B MIR125A CTNNB1 BRCA2
23 pancreatic cancer 30.7 TP53 PIK3CA MIR34A MIR20A MIR125A CTNNB1
24 melanoma 30.7 TP53 NRAS MIR34A MIR19A MIR199B
25 breast cancer 30.2 TP53 PIK3CA MIR34A MIR20A MIR199B MIR18A
26 colorectal cancer 29.7 WRN TP53 PIK3CA NRAS MIR34A MIR20A
27 hepatocellular carcinoma 29.3 TP53 PIK3CA NRAS MIR34A MIR20A MIR19A
28 lung cancer 29.2 TP53 PIK3CA NRAS MIR34A MIR20A MIR19A
29 large cell medulloblastoma 12.6
30 cerebellar medulloblastoma 12.4
31 melanotic medulloblastoma 12.4
32 cerebellar vermis medulloblastoma 12.4
33 anaplastic/large cell medulloblastoma 12.3
34 brain stem medulloblastoma 12.1
35 mismatch repair cancer syndrome 11.8
36 rhabdoid tumor predisposition syndrome 1 11.7
37 nijmegen breakage syndrome 11.5
38 embryoma 11.5
39 curry-jones syndrome 11.5
40 adult central nervous system primitive neuroectodermal neoplasm 11.4
41 childhood central nervous system primitive neuroectodermal neoplasm 11.4
42 keratocystic odontogenic tumor 11.3 TP53 SUFU SMO PTCH1
43 bladder urothelial carcinoma 11.3 TP53 PIK3CA NRAS IDH1 FGFR1 CTNNB1
44 basal cell carcinoma, multiple 11.3 SMO PTCH2 PTCH1
45 adult hepatocellular carcinoma 11.3 TP53 PIK3CA CTNNB1
46 suppression of tumorigenicity 12 11.2 TP53 PIK3CA IDH1 CTNNB1
47 acinar cell carcinoma 11.2 TP53 CTNNB1 BRCA2
48 microform holoprosencephaly 11.2 SUFU PTCH1 FGFR1
49 adrenocortical carcinoma, hereditary 11.2 TP53 PIK3CA NRAS CTNNB1
50 gastric adenocarcinoma 11.2 TP53 PIK3CA NRAS FGFR1 CTNNB1

Graphical network of the top 20 diseases related to Medulloblastoma:



Diseases related to Medulloblastoma

Symptoms & Phenotypes for Medulloblastoma

Human phenotypes related to Medulloblastoma:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
2 increased intracranial pressure 59 32 frequent (33%) Frequent (79-30%) HP:0002516
3 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
4 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
5 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
6 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
7 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
8 delayed cranial suture closure 59 32 frequent (33%) Frequent (79-30%) HP:0000270
9 abnormal brain fdg positron emission tomography 59 32 frequent (33%) Frequent (79-30%) HP:0012658
10 cerebellar ataxia associated with quadrupedal gait 59 32 frequent (33%) Frequent (79-30%) HP:0009878
11 cerebellar medulloblastoma 59 32 frequent (33%) Frequent (79-30%) HP:0007129
12 progressive macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0004481
13 abnormal cranial nerve morphology 32 frequent (33%) HP:0001291
14 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
15 diplopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000651
16 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
17 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
18 irritability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000737
19 progressive visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000529
20 back pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0003418
21 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
22 adenomatous colonic polyposis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005227
23 abnormality of bone marrow cell morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005561
24 spinal cord tumor 59 32 occasional (7.5%) Occasional (29-5%) HP:0010302
25 bilateral sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0008619
26 cerebellar cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0002350
27 cerebellar calcifications 59 32 occasional (7.5%) Occasional (29-5%) HP:0007352
28 total ophthalmoplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007824
29 cerebellar hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0011695
30 neoplasm of the lung 59 32 very rare (1%) Very rare (<4-1%) HP:0100526
31 elevated hepatic transaminase 59 32 very rare (1%) Very rare (<4-1%) HP:0002910
32 neuroblastoma 59 32 very rare (1%) Very rare (<4-1%) HP:0003006
33 medulloblastoma 59 32 Obligate (100%) HP:0002885
34 ataxia 59 Frequent (79-30%)
35 abnormality of the cranial nerves 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
medulloblastoma

Laboratory Abnormalities:
isochromosome 17q frequent in cytogenetic studies
loss of heterozygosity for 17p sequences in 45% of medulloblastomas

Clinical features from OMIM:

155255

UMLS symptoms related to Medulloblastoma:


vomiting, gait ataxia, headache, cerebellar ataxia/dyskinesia

MGI Mouse Phenotypes related to Medulloblastoma:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.24 CTNNB1 FGFR1 NRAS PIK3CA PTCH1 PTCH2
2 digestive/alimentary MP:0005381 10.21 BRCA2 CTNNB1 FGFR1 NRAS PTCH1 PTCH2
3 immune system MP:0005387 10.2 BRCA2 CTNNB1 FGFR1 IDH1 NRAS PIK3CA
4 hematopoietic system MP:0005397 10.18 BRCA2 CTNNB1 FGFR1 IDH1 NRAS PTCH1
5 embryo MP:0005380 10.15 BRCA2 CTNNB1 FGFR1 NRAS PIK3CA PTCH1
6 craniofacial MP:0005382 10.13 CTNNB1 FGFR1 NRAS PTCH1 SMO SUFU
7 integument MP:0010771 10.13 BRCA2 CTNNB1 FGFR1 NRAS PIK3CA PTCH1
8 limbs/digits/tail MP:0005371 10.06 BRCA2 CTNNB1 FGFR1 NRAS PTCH1 SMO
9 neoplasm MP:0002006 10.02 BRCA2 CTNNB1 NRAS PIK3CA PTCH1 PTCH2
10 normal MP:0002873 9.91 BRCA2 CTNNB1 FGFR1 NRAS PTCH1 PTCH2
11 no phenotypic analysis MP:0003012 9.87 CTNNB1 FGFR1 NRAS PIK3CA PTCH1 SUFU
12 skeleton MP:0005390 9.7 BRCA2 CTNNB1 FGFR1 IDH1 NRAS PIK3CA
13 pigmentation MP:0001186 9.55 CTNNB1 NRAS PTCH1 SUFU TP53
14 vision/eye MP:0005391 9.28 CTNNB1 FGFR1 NRAS PIK3CA PTCH1 SMO

Drugs & Therapeutics for Medulloblastoma

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Carmustine For the treatment of brain tumors, multiple myeloma, Hodgkin's disease and Non-Hodgkin's lymphomas. DB00262
2 Cisplatin For the treatment of metastatic testicular tumors, metastatic ovarian tumors and advanced bladder cancer. DB00515

Drugs for Medulloblastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 287)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
3
Metformin Approved Phase 3 657-24-9 4091 14219
4
Donepezil Approved Phase 3 120014-06-4 3152
5
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
6
Ondansetron Approved Phase 3 99614-02-5 4595
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
8
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
9
Daunorubicin Approved Phase 3 20830-81-3 30323
10
Histamine Approved, Investigational Phase 3 51-45-6 774
11
Cyproheptadine Approved Phase 3 129-03-3 2913
12 Trofosfamide Investigational Phase 2, Phase 3 22089-22-1
13 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
14
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
15 Antiemetics Phase 3
16 Peripheral Nervous System Agents Phase 3
17 BB 1101 Phase 3
18 Autonomic Agents Phase 3
19 Hypoglycemic Agents Phase 3
20 Analgesics Phase 3
21 Liver Extracts Phase 3
22 Central Nervous System Depressants Phase 3
23 Nootropic Agents Phase 3
24 Anesthetics Phase 3
25 Cholinesterase Inhibitors Phase 3
26 Cholinergic Agents Phase 3
27 Emetics Phase 3
28 Cola Phase 3
29 Anesthetics, Intravenous Phase 3
30 Narcotics Phase 3
31 Analgesics, Opioid Phase 3
32 Adjuvants, Anesthesia Phase 3
33 Anesthetics, General Phase 3
34 Podophyllotoxin Phase 3 518-28-5
35 Antibodies Phase 3
36 Immunoglobulins Phase 3
37 Antibodies, Monoclonal Phase 3
38 Vitamins Phase 3
39 Antibiotics, Antitubercular Phase 3
40
Liposomal doxorubicin Phase 3 31703
41 Gastrointestinal Agents Phase 3
42 Neurotransmitter Agents Phase 3
43 Anti-Allergic Agents Phase 3
44 Serotonin Antagonists Phase 3
45 Histamine H1 Antagonists Phase 3
46 Histamine Antagonists Phase 3
47 Serotonin Agents Phase 3
48
Histamine Phosphate Phase 3 51-74-1 65513
49 Antipruritics Phase 3
50
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202

Interventional clinical trials:

(show top 50) (show all 345)
# Name Status NCT ID Phase Drugs
1 HeadStart4: Newly Diagnosed Children (<10 y/o) With Medulloblastoma and Other CNS Embryonal Tumors Clinical and Molecular Risk-Tailored Intensive and Compressed Induction Chemotherapy Followed by Consolidation With Randomization to Either Single Cycle or to Three Tandem Cycles of Marrow-Ablative Chemotherapy With Autologous Hematopoietic Progenitor Cell Rescue Recruiting NCT02875314 Phase 4 Induction;Single Cycle Intensive Chemotherapy;Tandem 3 Cycle Intensive Chemotherapy
2 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Unknown status NCT01987596 Phase 3
3 A Prospective Randomised Controlled Trial Of Hyperfractionated Versus Conventionally Fractionated Radiotherapy In Standard Risk Medulloblastoma Unknown status NCT00053872 Phase 3 cisplatin;lomustine;vincristine sulfate
4 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
5 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
6 Systemic Chemotherapy, Second Look Surgery and Conformal Radiation Therapy Limited to the Posterior Fossa and Primary Site for Children &gt;/= to 8 Months and &lt;3 Years With Non-metastatic Medulloblastoma: A Children&Apos;s Oncology Group Phase III Study Completed NCT00006461 Phase 3 cisplatin;cyclophosphamide;vincristine sulfate;etoposide
7 A Phase III Randomized Trial for the Treatment of Newly Diagnosed Supratentorial PNET and High Risk Medulloblastoma in Children &lt;36 Months Old With Intensive Induction Chemotherapy With Methotrexate Followed by Consolidation With Stem Cell Rescue Versus the Same Therapy Without Methotrexate Completed NCT00336024 Phase 3 etoposide;cyclophosphamide;cisplatin;carboplatin;thiotepa;methotrexate;leucovorin calcium;vincristine sulfate
8 Trial of Chemotherapy Utilizing Carboplatin, Vincristine, Cyclophosphamide and Etoposide for the Treatment of Central Nervous System Primitive Neurectodermal Tumors of Childhood Completed NCT00003859 Phase 3 carboplatin;cyclophosphamide;etoposide;vincristine sulfate
9 Trial of Chemotherapy Intensification Through Compression in Ewing's Sarcoma and Related Tumors Completed NCT00006734 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
10 Placebo Controlled Double Blind Crossover Trial of Metformin for Brain Repair in Children With Cranial-Spinal Radiation for Medulloblastoma Completed NCT02040376 Phase 3 Metformin;Placebo
11 Phase III Prospective Randomized Study of Craniospinal RT Followed by One of Two Adjuvant Chemotherapy Regimens (CCNU, CDDP, VCR OR CPM, CDDP, VCR) for Newly-Diagnosed Average Risk MedulloblastomaMEDULLOBLASTOMA Completed NCT00002875 Phase 3 cisplatin;cyclophosphamide;lomustine;mesna;vincristine sulfate
12 A Study Evaluating Limited Target Volume Boost Irradiation and Reduced Dose Craniospinal Radiotherapy (18.00 Gy) and Chemotherapy in Children With Newly Diagnosed Standard Risk Medulloblastoma: A Phase III Double Randomized Trial Completed NCT00085735 Phase 3 Cisplatin;Cyclophosphamide;Lomustine;Vincristine Sulfate
13 A Randomized Phase III Study of Sodium Thiosulfate for the Prevention of Cisplatin-Induced Ototoxicity in Children Completed NCT00716976 Phase 3 sodium thiosulfate
14 Therapy-Optimization Trial and Phase II Study for the Treatment of Relapsed or Refractory of Primitive Neuroectodermal Brain Tumors and Ependymomas in Children and Adolescents Completed NCT00749723 Phase 2, Phase 3 carboplatin;etoposide;temozolomide;thiotepa, carboplatin, etoposide;temozolomide, thiotepa;intraventricular etoposide;trofosfamide, etoposide
15 Phase III Double Blind, Placebo Controlled Study of Donepezil in the Irradiated Brain Completed NCT00369785 Phase 3 donepezil hydrochloride;Placebo
16 Randomized Controlled Trial of Acupressure to Control Chemotherapy-Induced Nausea (CIN) in Children Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
17 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
18 An International Prospective Study on Clinically Standard-risk Medulloblastoma in Children Older Than 3 to 5 Years With Low-risk Biological Profile (PNET 5 MB-LR) or Average-risk Biological Profile (PNET 5 MB-SR) Recruiting NCT02066220 Phase 2, Phase 3 Reduced-intensity maintenance chemotherapy;Maintenance chemotherapy
19 Treatment of Patients With Newly Diagnosed Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Active, not recruiting NCT00085202 Phase 3 cisplatin;cyclophosphamide;vincristine
20 Randomized Phase 3 Trial Evaluating the Addition of the IGF-1R Monoclonal Antibody Ganitumab (AMG 479, NSC# 750008) to Multiagent Chemotherapy for Patients With Newly Diagnosed Metastatic Ewing Sarcoma Active, not recruiting NCT02306161 Phase 3 Cyclophosphamide;Doxorubicin;Doxorubicin Hydrochloride;Etoposide;Etoposide Phosphate;Ifosfamide;Vincristine;Vincristine Sulfate
21 A Phase III Randomized Trial of Adding Vincristine-Topotecan-Cyclophosphamide to Standard Chemotherapy in Initial Treatment of Non-Metastatic Ewing Sarcoma Active, not recruiting NCT01231906 Phase 3 Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Ifosfamide;Topotecan Hydrochloride;Vincristine Sulfate
22 A Prospective Randomised Controlled Trial of Hyperfractionated Versus Conventionally Fractionated Radiotherapy in Standard Risk Medulloblastoma Active, not recruiting NCT01351870 Phase 3
23 Efficacy of Carboplatin Administered Concomitantly With Radiation and Isotretinoin as a Pro-Apoptotic Agent in Other Than Average Risk Medulloblastoma/PNET Patients Active, not recruiting NCT00392327 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Isotretinoin;Vincristine Sulfate
24 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
25 Treatment Protocol for High-Risk PNET Brain Tumors in Children With Surgery, Sequential Chemotherapy, Conventional and High-Dose With Peripheral Blood Stem Cell Transplantation and Radiation Therapy Unknown status NCT00180791 Phase 2 Etoposide, carboplatin, melphalan, cisplatin, thiotepa
26 A Randomized, Placebo-Controlled Pilot Study of Genistein Supplementation in Pediatric Cancer Patients Receiving Myelosuppressive Chemotherapy Unknown status NCT02624388 Phase 2 Genistein;Placebo
27 Hyperfractionated Accelerated Radiotherapy (HART) With Chemotherapy (Cisplatin, CCNU, Vincristine) for Non-Pineal Supratentorial Primitive Neuroectodermal Tumours Unknown status NCT00274911 Phase 2 cisplatin;lomustine;vincristine sulfate
28 Hyperfractionated Accelerated Radiotherapy (HART) With Chemotherapy (Cisplatin, CCNU, Vincristine) for Metastatic (M1-3) Medulloblastoma Unknown status NCT00276666 Phase 2 cisplatin;lomustine;vincristine sulfate
29 Phase II Study of Vinorelbine + Cyclofosfamide Association Among Patients Reached of Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
30 Phase 2 Study of Radiation Therapy and Combination Chemotherapy Following Surgery in Treating Children With Newly Diagnosed Medulloblastoma Unknown status NCT02681705 Phase 2 Temozolomide
31 A Phase 2 Study of Aminolevulinic Acid (ALA) to Enhance Visualization and Resection of Malignant Glial Tumors of the Brain Unknown status NCT01403311 Phase 2 5-Aminolevuline Acid
32 Management of Children Aged Less Than 3 Years With Brain Tumors Unknown status NCT00281905 Phase 2 carboplatin;cisplatin;cyclophosphamide;methotrexate;vincristine sulfate
33 A Prospective, Multicentre Trial on the Value of 18F-FET PET in the Post-therapeutic Evaluation of Childhood Brain Tumours Unknown status NCT03216148 Phase 2
34 Feasibility and Phase II Study Using Proton Radiation For WHO Grade I-III Meningiomas and Hemangiopericytomas Unknown status NCT01117844 Phase 1, Phase 2
35 Feasibility of Using Concurrent Carboplatin and Reduced Dose Craniospinal Radiation (24Gy) for Metastatic Medulloblastoma, High-Risk Supratentorial PNET and Metastatic PNET Completed NCT01542736 Phase 2 Carboplatin;Vincristine
36 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
37 A Phase II Study of R115777 (Zarnestra) (NSC # 702818, IND# 58,359) in Children With Recurrent or Progressive: High Grade Glioma, Medulloblastoma/PNET or Brainstem Glioma Completed NCT00070525 Phase 2 tipifarnib
38 A Phase II Study of Oxaliplatin in Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumors and Atypical Teratoid Rhabdoid Tumors Completed NCT00047177 Phase 2 Oxaliplatin
39 Dose Intensive Chemotherapy for Patients Greater Than or Equal To 10 Years of Age With Newly Diagnosed High Stage Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumors (PNET) and Ependymoma: A Feasibility Study of an Intensive Induction Chemotherapy Regimen Followed by Standard Irradiation Completed NCT00006258 Phase 2 cisplatin;cyclophosphamide;etoposide;methotrexate;vincristine sulfate
40 A Phase I/II Study of Local Field Irradiation and Temozolomide Followed by Continuous Infusion Plerixafor as an Upfront Therapy for Newly Diagnosed Glioblastoma GBM Completed NCT01977677 Phase 1, Phase 2 temozolomide;plerixafor
41 CAMP 013:- Tandem Thiotepa Regimen For Selected Malignant Gliomas:1) Primary Or Recurrent Glioblastoma Multiforme (GBM); and 2) Recurrent Anaplastic Astrocytomas (AA), Oligodendrogliomas (O), Oligoastrocytomas (OA), Ependymomas And Primitive Neuroectodermal Tumors (PNET) That Have Either Progressed After Primary Therapy Or Are Refractory To Standard Chemotherapy Completed NCT00008008 Phase 2 cyclophosphamide;thiotepa
42 Treatment of Newly Diagnosed Medulloblastoma and Supratentorial PNET in Patients At Least 3 Years With a Phase II Topotecan Window (High-Risk Patients Only), Risk-Adapted Radiation Therapy, and Dose-Intensive Chemotherapy With Peripheral Blood Stem Cell Support Completed NCT00003211 Phase 2 amifostine trihydrate;cisplatin;cyclophosphamide;vincristine sulfate
43 Phase II Study of Methotrexate, Mechlorethamine, Vincristine, Prednisone, and Procarbazine (MMOPP) as Primary Therapy in Infants or Young Children With Primitive Neuroectodermal Tumors or High-Grade Astrocytoma Completed NCT00002463 Phase 2 MOPP Regimen;Leucovorin Calcium;Mechlorethamine Hydrochloride;Methotrexate;Prednisone;Procarbazine Hydrochloride;Vincristine Sulfate
44 Treatment of High Risk Central Nervous System Embryonal Tumors With Conventional Radiotherapy and Intensive Consolidation Chemotherapy With Peripheral Blood Progenitor Cell (PBSC) Support Completed NCT00003846 Phase 2 carboplatin;cyclophosphamide;thiotepa;vincristine sulfate
45 A Phase II Study of Gleevec (Imatinib Mesylate, NSC 716051 Formerly STI571) in Children With Refractory or Relapsed Solid Tumors Completed NCT00030667 Phase 2 imatinib mesylate
46 A Phase II Study of Oxaliplatin in Children With Recurrent Solid Tumors Completed NCT00091182 Phase 2 oxaliplatin
47 A Phase II Study of Single Agent Depsipeptide (FK228) in Metastatic or Unresectable Soft Tissue Sarcomas Completed NCT00112463 Phase 2 romidepsin
48 A Phase II Study Of Trabectedin (ET-743, Yondelis®) in Children With Recurrent Rhabdomyosarcoma, Ewing Sarcoma, or Nonrhabdomyosarcomatous Soft Tissue Sarcomas Completed NCT00070109 Phase 2 trabectedin
49 Phase II Multicenter, Open-label, Clinical and Pharmacokinetic Study of Zalypsis® (PM00104) in Patients With Unresectable Locally Advanced and/or Metastatic Ewing Family of Tumors (EFT) Progressing After at Least One Prior Line of Chemotherapy Completed NCT01222767 Phase 2 Zalypsis
50 Phase II Trial of Ixabepilone (BMS-247550), an Epothilone B Analog, in Children and Young Adults With Refractory Solid Tumors Completed NCT00331643 Phase 2 ixabepilone

Search NIH Clinical Center for Medulloblastoma

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


Carmustine
Carmustine
Cisplatin

Cochrane evidence based reviews: medulloblastoma

Genetic Tests for Medulloblastoma

Genetic tests related to Medulloblastoma:

# Genetic test Affiliating Genes
1 Medulloblastoma 29 BRCA2 CTNNB1 PTCH2 SUFU

Anatomical Context for Medulloblastoma

MalaCards organs/tissues related to Medulloblastoma:

41
Brain, Cerebellum, Bone, Bone Marrow, Lung, T Cells, Myeloid

The Foundational Model of Anatomy Ontology organs/tissues related to Medulloblastoma:

19
Lower Part Of The Brain

Publications for Medulloblastoma

Articles related to Medulloblastoma:

(show top 50) (show all 6790)
# Title Authors PMID Year
1
APC mutations in sporadic medulloblastomas. 9 38 8 71
10666372 2000
2
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. 38 8 71
19833601 2010
3
Mutations in SUFU predispose to medulloblastoma. 38 8 71
12068298 2002
4
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. 8 71
15689453 2005
5
Bmi1 is essential for cerebellar development and is overexpressed in human medulloblastomas. 9 38 8
15029199 2004
6
BMP-2 mediates retinoid-induced apoptosis in medulloblastoma cells through a paracrine effect. 9 38 8
12872164 2003
7
Expression profiling of medulloblastoma: PDGFRA and the RAS/MAPK pathway as therapeutic targets for metastatic disease. 9 38 8
11544480 2001
8
Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. 9 38 71
9931336 1999
9
DMBT1, a new member of the SRCR superfamily, on chromosome 10q25.3-26.1 is deleted in malignant brain tumours. 9 38 8
9288095 1997
10
Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis. 9 38 8
1347196 1992
11
The whole-genome landscape of medulloblastoma subtypes. 38 8
28726821 2017
12
Subgroup-specific structural variation across 1,000 medulloblastoma genomes. 38 8
22832581 2012
13
Novel mutations target distinct subgroups of medulloblastoma. 38 8
22722829 2012
14
Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. 38 8
22820256 2012
15
Dissecting the genomic complexity underlying medulloblastoma. 38 8
22832583 2012
16
The genetic landscape of the childhood cancer medulloblastoma. 38 8
21163964 2011
17
Subtypes of medulloblastoma have distinct developmental origins. 38 8
21150899 2010
18
Treatment of medulloblastoma with hedgehog pathway inhibitor GDC-0449. 38 8
19726761 2009
19
Identification of a SUFU germline mutation in a family with Gorlin syndrome. 38 71
19533801 2009
20
Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 38 8
19270706 2009
21
MicroRNA profiling in human medulloblastoma. 9 38 88
18973228 2009
22
Signaling pathways in medulloblastoma. 38 8
18651559 2008
23
Medulloblastoma in childhood: new biological advances. 38 8
18031705 2007
24
CIC, a gene involved in cerebellar development and ErbB signaling, is significantly expressed in medulloblastomas. 38 8
15981098 2005
25
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 38 71
14670928 2004
26
PDGFRB is overexpressed in metastatic medulloblastoma. 38 8
14593398 2003
27
Medulloblastoma growth inhibition by hedgehog pathway blockade. 38 8
12202832 2002
28
Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping. 38 8
10969942 2000
29
Induction of medulloblastomas in p53-null mutant mice by somatic inactivation of Rb in the external granular layer cells of the cerebellum. 38 8
10783170 2000
30
The molecular basis of Turcot's syndrome. 38 8
7661930 1995
31
Deletion mapping of the medulloblastoma locus on chromosome 17p. 38 8
1979050 1990
32
MicroRNA-34a inhibits glioblastoma growth by targeting multiple oncogenes. 38 88
19773441 2009
33
Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma. 38 88
19584924 2009
34
The miR-17/92 polycistron is up-regulated in sonic hedgehog-driven medulloblastomas and induced by N-myc in sonic hedgehog-treated cerebellar neural precursors. 38 88
19351822 2009
35
The miR-17~92 cluster collaborates with the Sonic Hedgehog pathway in medulloblastoma. 38 88
19196975 2009
36
MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. 38 88
19308264 2009
37
Concerted microRNA control of Hedgehog signalling in cerebellar neuronal progenitor and tumour cells. 38 88
18756266 2008
38
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 71
16825431 2007
39
Prediction of central nervous system embryonal tumour outcome based on gene expression. 8
11807556 2002
40
A common human skin tumour is caused by activating mutations in beta-catenin. 71
10192393 1999
41
Inhibition of Aurora Kinase A enhances chemosensitivity of medulloblastoma cell lines. 9 38
20232424 2010
42
Recurrence in medulloblastoma - influence of clinical, histological and immunohistochemical factors. 9 38
20465457 2010
43
Cross-talk between T-Ag presence and pRb family and p53/p73 signaling in mouse and human medulloblastoma. 9 38
20336668 2010
44
Differential roles of Trk and p75 neurotrophin receptors in tumorigenesis and chemoresistance ex vivo and in vivo. 9 38
19701634 2010
45
p53 Regulates LIF expression in human medulloblastoma cells. 9 38
19907922 2010
46
On the death Trk. 9 38
20186708 2010
47
Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations. 9 38
20142599 2010
48
Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation. 9 38
20081843 2010
49
Small-molecule inhibitors of phosphatidylinositol 3-kinase/Akt signaling inhibit Wnt/beta-catenin pathway cross-talk and suppress medulloblastoma growth. 9 38
20028853 2010
50
Sunitinib induces apoptosis and growth arrest of medulloblastoma tumor cells by inhibiting STAT3 and AKT signaling pathways. 9 38
20053726 2010

Variations for Medulloblastoma

ClinVar genetic disease variations for Medulloblastoma:

6 (show top 50) (show all 425)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NONO NM_001145408.2(NONO): c.731dup (p.Asn244fs) duplication other rs1555950011 X:70516490-70516490 X:71296639-71296640
2 ARID1A NM_006015.6(ARID1A): c.2732G> T (p.Arg911Met) single nucleotide variant other rs1553152166 1:27089776-27089776 1:26763285-26763285
3 ARID1B NM_020732.3(ARID1B): c.3345+1G> A single nucleotide variant other rs1554231278 6:157502313-157502313 6:157181179-157181179
4 DDX3X NM_001356.4(DDX3X): c.1588G> T (p.Gly530Cys) single nucleotide variant other rs1555954272 X:41205848-41205848 X:41346595-41346595
5 DDX3X NM_001356.4(DDX3X): c.1592G> A (p.Arg531His) single nucleotide variant other rs1555954275 X:41205852-41205852 X:41346599-41346599
6 DDX3X NM_001356.4(DDX3X): c.1033G> C (p.Val345Leu) single nucleotide variant other rs1555953796 X:41204440-41204440 X:41345187-41345187
7 FOXO3 NM_001455.4(FOXO3): c.699G> A (p.Trp233Ter) single nucleotide variant other rs1554218944 6:108984735-108984735 6:108663532-108663532
8 SMARCA4 NM_001128849.2(SMARCA4): c.2729C> T (p.Thr910Met) single nucleotide variant other rs1238758086 19:11132513-11132513 19:11021837-11021837
9 SUFU NM_016169.3(SUFU): c.341del (p.Ser114fs) deletion Pathogenic rs1060501108 10:104309750-104309750 10:102549993-102549993
10 SUFU NM_016169.3(SUFU): c.585_586dup (p.Thr196fs) duplication Pathogenic rs1554852279 10:104352469-104352470 10:102592712-102592713
11 SUFU NM_016169.3(SUFU): c.171dup (p.Val58fs) duplication Pathogenic rs1554840869 10:104264080-104264080 10:102504323-102504323
12 SUFU NM_016169.3(SUFU): c.436C> T (p.Arg146Ter) single nucleotide variant Pathogenic rs1060501109 10:104309845-104309845 10:102550088-102550088
13 SMO NM_005631.5(SMO): c.1417G> C (p.Asp473His) single nucleotide variant Pathogenic rs17710891 7:128849189-128849189 7:129209348-129209348
14 TP53 NM_000546.5(TP53): c.818G> T (p.Arg273Leu) single nucleotide variant Pathogenic rs28934576 17:7577120-7577120 17:7673802-7673802
15 SUFU NC_000010.10: g.(?_104353387)_(104357056_?)del deletion Pathogenic 10:104353387-104357056 10:102593630-102597299
16 SUFU NM_016169.3(SUFU): c.44C> T (p.Pro15Leu) single nucleotide variant Pathogenic rs28942088 10:104263953-104263953 10:102504196-102504196
17 SUFU SUFU, 1-BP INS, 143A insertion Pathogenic
18 SUFU NM_016169.3(SUFU): c.1022+1G> A single nucleotide variant Pathogenic rs587776578 10:104359302-104359302 10:102599545-102599545
19 SUFU SUFU, 2.5-Mb DEL deletion Pathogenic
20 SUFU NM_016169.3(SUFU): c.71del (p.Pro24fs) deletion Pathogenic rs587776579 10:104263980-104263980 10:102504223-102504223
21 SUFU SUFU, 1-BP INS, 71C insertion Pathogenic
22 BRCA2 NM_000059.3(BRCA2): c.658_659del (p.Val220fs) deletion Pathogenic rs80359604 13:32903606-32903607 13:32329469-32329470
23 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 13:32914137-32914137 13:32340000-32340000
24 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 17:7577539-7577539 17:7674221-7674221
25 PIK3CA NM_006218.4(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 3:178952085-178952085 3:179234297-179234297
26 PIK3CA NM_006218.4(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 3:178952085-178952085 3:179234297-179234297
27 NRAS NM_002524.5(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 1:115258744-115258744 1:114716123-114716123
28 BRCA2 NM_000059.3(BRCA2): c.3109C> T (p.Gln1037Ter) single nucleotide variant Pathogenic rs80358557 13:32911601-32911601 13:32337464-32337464
29 BRCA2 NM_000059.3(BRCA2): c.4243G> T (p.Glu1415Ter) single nucleotide variant Pathogenic rs397507327 13:32912735-32912735 13:32338598-32338598
30 BRCA2 NM_000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter) single nucleotide variant Pathogenic rs80358721 13:32913457-32913457 13:32339320-32339320
31 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 13:32914174-32914174 13:32340037-32340037
32 BRCA2 NM_000059.3(BRCA2): c.6952C> T (p.Arg2318Ter) single nucleotide variant Pathogenic rs80358920 13:32920978-32920978 13:32346841-32346841
33 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 13:32930609-32930609 13:32356472-32356472
34 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 13:32954050-32954050 13:32379913-32379913
35 BRCA2 NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter) single nucleotide variant Pathogenic rs80359200 13:32968863-32968863 13:32394726-32394726
36 PIK3CA NM_006218.4(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 3:178952084-178952084 3:179234296-179234296
37 PIK3CA NM_006218.4(PIK3CA): c.1637A> G (p.Gln546Arg) single nucleotide variant Pathogenic rs397517201 3:178936095-178936095 3:179218307-179218307
38 BRCA2 NM_000059.3(BRCA2): c.100G> T (p.Glu34Ter) single nucleotide variant Pathogenic rs80358391 13:32893246-32893246 13:32319109-32319109
39 BRCA2 NM_000059.3(BRCA2): c.1399A> T (p.Lys467Ter) single nucleotide variant Pathogenic rs80358427 13:32907014-32907014 13:32332877-32332877
40 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 13:32893291-32893291 13:32319154-32319154
41 BRCA2 NM_000059.3(BRCA2): c.5791C> T (p.Gln1931Ter) single nucleotide variant Pathogenic rs80358807 13:32914283-32914283 13:32340146-32340146
42 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 13:32914349-32914349 13:32340212-32340212
43 BRCA2 NM_000059.3(BRCA2): c.6656C> G (p.Ser2219Ter) single nucleotide variant Pathogenic rs80358893 13:32915148-32915148 13:32341011-32341011
44 BRCA2 NM_000059.3(BRCA2): c.7879A> T (p.Ile2627Phe) single nucleotide variant Pathogenic rs80359014 13:32936733-32936733 13:32362596-32362596
45 BRCA2 NM_000059.3(BRCA2): c.7988A> T (p.Glu2663Val) single nucleotide variant Pathogenic rs80359031 13:32937327-32937327 13:32363190-32363190
46 BRCA2 NM_000059.3(BRCA2): c.8167G> C (p.Asp2723His) single nucleotide variant Pathogenic rs41293511 13:32937506-32937506 13:32363369-32363369
47 BRCA2 NM_000059.3(BRCA2): c.92G> A (p.Trp31Ter) single nucleotide variant Pathogenic rs397508045 13:32893238-32893238 13:32319101-32319101
48 BRCA2 NM_000059.3(BRCA2): c.9382C> T (p.Arg3128Ter) single nucleotide variant Pathogenic rs80359212 13:32968951-32968951 13:32394814-32394814
49 SUFU NM_016169.3(SUFU): c.111del (p.Tyr38fs) deletion Pathogenic rs863224925 10:104264020-104264020 10:102504263-102504263
50 FGFR1 NM_023110.2(FGFR1): c.1638C> A (p.Asn546Lys) single nucleotide variant Pathogenic rs779707422 8:38274849-38274849 8:38417331-38417331

UniProtKB/Swiss-Prot genetic disease variations for Medulloblastoma:

74
# Symbol AA change Variation ID SNP ID
1 APC p.Ala1296Val VAR_017653 rs129151303
2 APC p.Val1472Ile VAR_017654 rs878853445
3 APC p.Ser1495Gly VAR_017655
4 CTNNB1 p.Ser33Phe VAR_017617 rs121913400
5 CTNNB1 p.Ser37Ala VAR_017624 rs121913228

Cosmic variations for Medulloblastoma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM5673 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>A p.S33Y 3:41224610-41224610 8

Copy number variations for Medulloblastoma from CNVD:

7 (show top 50) (show all 406)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13756 1 1 27800000 Deletion Medulloblastoma
2 13826 1 1 84700000 Deletion Medulloblastoma
3 13834 1 1 94500000 Deletion Medulloblastoma
4 14508 1 109116339 109116457 Amplification Medulloblastoma
5 15075 1 112496243 112497197 Deletion Medulloblastoma
6 16439 1 124300000 247249719 Gain Medulloblastoma
7 16481 1 125000000 249250621 Gain Medulloblastoma
8 18169 1 144250173 193504146 Gain Medulloblastoma
9 22567 1 167495768 167505182 Deletion Medulloblastoma
10 25322 1 187353840 187354239 Amplification Medulloblastoma
11 25794 1 194888508 194889123 Amplification Medulloblastoma
12 27709 1 211370717 247249719 Gain Medulloblastoma
13 28242 1 220443401 220443721 Deletion Medulloblastoma
14 29306 1 2300000 57866667 Deletion Medulloblastoma
15 29307 1 2300000 68700000 Deletion Medulloblastoma
16 31250 1 26333039 26333369 Deletion Medulloblastoma
17 31487 1 27800000 120700000 Deletion Medulloblastoma
18 31730 1 30200000 63811651 Gain Medulloblastoma
19 32194 1 34400000 43900000 Amplification Medulloblastoma
20 32220 1 34600000 44100000 Copy number MYCL1 Medulloblastoma
21 32880 1 40100000 44100000 Copy number MPL Medulloblastoma
22 35923 1 69500000 247249719 Gain Medulloblastoma
23 35940 1 69500000 88100000 Deletion Medulloblastoma
24 36295 1 73498586 73502199 Amplification Medulloblastoma
25 36488 1 76124315 76124455 Amplification Medulloblastoma
26 37038 1 84700000 92000000 Amplification Medulloblastoma
27 37523 1 92000000 247249719 Gain Medulloblastoma
28 38144 10 1 135374737 Deletion Medulloblastoma
29 38147 10 1 135374737 Gain Medulloblastoma
30 38152 10 1 20189475 Loss Medulloblastoma
31 38882 10 105700000 135374737 Deletion Medulloblastoma
32 40125 10 124341161 124341587 Deletion DMBT1 Medulloblastoma
33 41435 10 17998747 17999193 Deletion Medulloblastoma
34 41578 10 20890630 20897371 Deletion Medulloblastoma
35 42767 10 38815211 38909744 Amplification Medulloblastoma
36 42797 10 40200000 135534747 Loss Medulloblastoma
37 42805 10 40300000 135374737 Deletion Medulloblastoma
38 42892 10 42100000 135374737 Deletion Medulloblastoma
39 42906 10 42114131 42130982 Amplification Medulloblastoma
40 44229 10 53686068 53686625 Deletion Medulloblastoma
41 44331 10 55250865 57057708 Recurrent translocat ion PCDH15 Medulloblastoma
42 44628 10 60813485 133778458 Loss Medulloblastoma
43 44902 10 64800000 135374737 Deletion Medulloblastoma
44 45281 10 69738803 69739239 Deletion Medulloblastoma
45 47498 10 94192885 94194314 Deletion Medulloblastoma
46 48314 11 1 134452384 Deletion Medulloblastoma
47 48316 11 1 134452384 Gain Medulloblastoma
48 48367 11 1 36400000 Deletion Medulloblastoma
49 48483 11 1 48800000 Deletion Medulloblastoma
50 48690 11 101740351 101781327 Deletion BIRC2 Medulloblastoma

Expression for Medulloblastoma

Search GEO for disease gene expression data for Medulloblastoma.

Pathways for Medulloblastoma

Pathways related to Medulloblastoma according to KEGG:

37
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310
2 Hedgehog signaling pathway hsa04340

Pathways related to Medulloblastoma according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 SUFU SMO PTCH2 PTCH1 NRAS CTNNB1
2
Show member pathways
12.76 TP53 PIK3CA NRAS FGFR1 CTNNB1 BRCA2
3
Show member pathways
12.6 TP53 PIK3CA NRAS FGFR1 CTNNB1 BRCA2
4
Show member pathways
12.58 TP53 PIK3CA NRAS FGFR1 BRCA2
5
Show member pathways
12.39 TP53 PIK3CA NRAS FGFR1
6 12.38 TP53 SUFU SMO PTCH2 PTCH1 PIK3CA
7
Show member pathways
12.3 TP53 PIK3CA NRAS FGFR1 CTNNB1
8 12.25 TP53 PIK3CA NRAS CTNNB1
9
Show member pathways
12.23 TP53 SUFU SMO PTCH2 PTCH1 CTNNB1
10
Show member pathways
12.2 TP53 MIR20A MIR19A MIR18A MIR17
11 12.13 SUFU PTCH2 PTCH1 CTNNB1
12 12.12 SMO PTCH1 PIK3CA NRAS
13
Show member pathways
12.1 TP53 PIK3CA NRAS FGFR1
14 12.03 TP53 PIK3CA NRAS FGFR1
15 12.01 TP53 SMO PTCH1 PIK3CA NRAS FGFR1
16 11.99 PIK3CA NRAS FGFR1 CTNNB1
17 11.89 TP53 PIK3CA NRAS CTNNB1
18 11.86 TP53 PIK3CA NRAS CTNNB1
19 11.85 TP53 PIK3CA NRAS MIR34A MIR326 MIR20A
20
Show member pathways
11.75 PIK3CA NRAS FGFR1
21
Show member pathways
11.69 PIK3CA NRAS FGFR1
22 11.63 MIR20A MIR19A MIR18A MIR17
23 11.56 TP53 PIK3CA NRAS IDH1 FGFR1
24 11.22 PIK3CA FGFR1 CTNNB1
25
Show member pathways
11.15 SMO PTCH2 PTCH1 PIK3CA

GO Terms for Medulloblastoma

Biological processes related to Medulloblastoma according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.95 TP53 SMO MIR19A CTNNB1
2 positive regulation of gene expression GO:0010628 9.95 TP53 SMO MIR34A MIR125A CTNNB1
3 brain development GO:0007420 9.92 WRN PTCH1 FGFR1 BRCA2
4 regulation of gene expression GO:0010468 9.89 SMO PIK3CA FGFR1 CTNNB1
5 in utero embryonic development GO:0001701 9.86 SMO PTCH1 FGFR1 CTNNB1
6 smoothened signaling pathway GO:0007224 9.76 SMO PTCH2 PTCH1
7 skin development GO:0043588 9.71 SUFU PTCH2 CTNNB1
8 dorsal/ventral pattern formation GO:0009953 9.69 SMO PTCH1 CTNNB1
9 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.67 MIR20A MIR19A MIR199B
10 somite development GO:0061053 9.65 SMO PTCH1
11 cellular response to cholesterol GO:0071397 9.65 SMO PTCH1
12 dorsal/ventral neural tube patterning GO:0021904 9.64 SMO PTCH1
13 mammary gland epithelial cell differentiation GO:0060644 9.63 SMO PTCH1
14 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.63 TP53 BRCA2
15 negative regulation of gene expression GO:0010629 9.63 SMO MIR20A MIR17 MIR125A FGFR1 CTNNB1
16 commissural neuron axon guidance GO:0071679 9.62 SMO PTCH1
17 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.61 MIR20A MIR17
18 response to UV-C GO:0010225 9.61 WRN BRCA2
19 cell aging GO:0007569 9.61 WRN TP53 BRCA2
20 positive regulation of epidermal cell differentiation GO:0045606 9.58 PTCH2 PTCH1
21 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 SMO FGFR1 CTNNB1
22 lung-associated mesenchyme development GO:0060484 9.57 FGFR1 CTNNB1
23 gene silencing by miRNA GO:0035195 9.56 MIR34A MIR326 MIR20A MIR19A MIR199B MIR18A
24 negative regulation of smoothened signaling pathway GO:0045879 9.54 SUFU PTCH2 PTCH1
25 chordate embryonic development GO:0043009 9.52 FGFR1 BRCA2
26 positive regulation of pulmonary blood vessel remodeling GO:1905111 9.48 MIR20A MIR17
27 epidermal cell fate specification GO:0009957 9.46 PTCH2 PTCH1
28 cell fate determination GO:0001709 9.43 PTCH2 PTCH1 CTNNB1
29 determination of adult lifespan GO:0008340 9.34 TP53
30 renal system development GO:0072001 9.32 SMO PTCH1
31 negative regulation of sprouting angiogenesis GO:1903671 9.02 MIR34A MIR20A MIR19A MIR18A MIR17
32 negative regulation of transcription by RNA polymerase II GO:0000122 10.08 TP53 SUFU SMO PTCH1 FGFR1 CTNNB1

Molecular functions related to Medulloblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 9.32 SMO PTCH1
2 smoothened binding GO:0005119 9.26 PTCH2 PTCH1
3 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.17 MIR34A MIR20A MIR19A MIR199B MIR18A MIR17
4 hedgehog receptor activity GO:0008158 9.16 PTCH2 PTCH1
5 hedgehog family protein binding GO:0097108 8.96 PTCH2 PTCH1

Sources for Medulloblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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