MDB
MCID: MDL005
MIFTS: 77

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 58 12 77 54 60 76 38 30 13 56 6 45 15 41 17 74
Mdb 58 54 76
Localized Primitive Neuroectodermal Tumor 12 74
Medulloblastoma with Extensive Nodularity 60 6
Medulloblastoma, Desmoplastic 58 6
Desmoplastic Medulloblastoma 17 74
Classic Medulloblastoma 60 74
Cpnet 12 74
Infratentorial Primitive Neuroectodermal Tumor 12
Medulloblastoma, with Extensive Nodularity 74
Desmoplastic/nodular Medulloblastoma 60
Neuroectodermal Tumors, Primitive 45
Medulloblastoma Desmoplastic 56
Medulloblastoma, Somatic 58
Brain Medulloblastoma 12
Cns Pnet 12
Mben 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive
autosomal dominant
somatic

Miscellaneous:
incomplete penetrance


HPO:

33
medulloblastoma:
Onset and clinical course incomplete penetrance
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Medulloblastoma

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 616Disease definitionMedulloblastoma (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 Vincristine and Methotrexate 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 : 58 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)

UniProtKB/Swiss-Prot : 76 Medulloblastoma: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

Wikipedia : 77 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 286)
# Related Disease Score Top Affiliating Genes
1 childhood medulloblastoma 34.7 PTCH1 SUFU TP53
2 adult medulloblastoma 34.6 IDH1 PTCH1 SUFU TP53
3 nodular medulloblastoma 34.5 CTNNB1 PTCH1 SUFU
4 basal cell nevus syndrome 33.5 PTCH1 PTCH2 SMO SUFU
5 cerebellar liponeurocytoma 33.2 PTCH1 SUFU TP53
6 basal cell carcinoma 31.7 CTNNB1 PTCH1 PTCH2 SMO SUFU TP53
7 glioblastoma 31.6 BRCA2 FGFR1 IDH1 MIR326 MIR34A NRAS
8 cerebellar astrocytoma 31.1 IDH1 TP53
9 neuroblastoma 31.0 CTNNB1 FGFR1 MIR125A MIR34A NRAS PIK3CA
10 adenocarcinoma 30.9 CTNNB1 FGFR1 PIK3CA TP53
11 brain cancer 30.7 BRCA2 CTNNB1 IDH1 NRAS PIK3CA PTCH1
12 central nervous system cancer 30.7 IDH1 PTCH1 SUFU TP53
13 gliosarcoma 30.7 FGFR1 IDH1 TP53
14 nervous system cancer 30.6 IDH1 PTCH1 TP53
15 glioma 30.6 BRCA2 FGFR1 IDH1 MIR17 MIR19A MIR20A
16 leukemia, acute myeloid 30.2 IDH1 MIR125A MIR326 NRAS TP53
17 melanoma 29.9 MIR19A MIR30B MIR34A NRAS TP53
18 breast cancer 29.5 BRCA2 CTNNB1 FGFR1 IDH1 MIR125A MIR18A
19 large cell medulloblastoma 12.5
20 cerebellar medulloblastoma 12.3
21 melanotic medulloblastoma 12.3
22 cerebellar vermis medulloblastoma 12.2
23 anaplastic/large cell medulloblastoma 12.2
24 brain stem medulloblastoma 12.1
25 mismatch repair cancer syndrome 11.7
26 curry-jones syndrome 11.4
27 embryonal tumor with multilayered rosettes 11.3
28 adult central nervous system primitive neuroectodermal neoplasm 11.2
29 childhood central nervous system primitive neuroectodermal neoplasm 11.2
30 rhabdoid tumor predisposition syndrome 1 11.2
31 central nervous system primitive neuroectodermal neoplasm 11.1
32 rhabdoid tumor predisposition syndrome 2 11.1
33 embryoma 11.1
34 chromosome 17q11.2 deletion syndrome 11.1
35 infratentorial cancer 10.8 CTNNB1 PTCH1 SUFU TP53
36 keratocystic odontogenic tumor 10.8 PTCH1 SMO SUFU TP53
37 thyroid cancer 10.8 CTNNB1 NRAS PIK3CA PTCH1 TP53
38 bladder urothelial carcinoma 10.8 CTNNB1 FGFR1 IDH1 NRAS PIK3CA TP53
39 adult hepatocellular carcinoma 10.8 CTNNB1 PIK3CA TP53
40 basal cell carcinoma, multiple 10.8 PTCH1 PTCH2 SMO
41 pancreas adenocarcinoma 10.8 BRCA2 CTNNB1 PIK3CA TP53
42 suppression of tumorigenicity 12 10.8 CTNNB1 IDH1 PIK3CA TP53
43 brain stem glioma 10.8 FGFR1 IDH1 PIK3CA TP53
44 adrenocortical carcinoma, hereditary 10.7 CTNNB1 NRAS PIK3CA TP53
45 microform holoprosencephaly 10.7 FGFR1 PTCH1 SUFU
46 acinar cell carcinoma 10.7 BRCA2 CTNNB1 TP53
47 large intestine cancer 10.7 CTNNB1 IDH1 NRAS PIK3CA TP53
48 gastric adenocarcinoma 10.7 CTNNB1 FGFR1 NRAS PIK3CA TP53
49 melanoma, cutaneous malignant 1 10.7 CTNNB1 NRAS PIK3CA TP53
50 lung cancer susceptibility 3 10.7 CTNNB1 IDH1 NRAS PIK3CA TP53

Graphical network of the top 20 diseases related to Medulloblastoma:



Diseases related to Medulloblastoma

Symptoms & Phenotypes for Medulloblastoma

Human phenotypes related to Medulloblastoma:

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002017
2 increased intracranial pressure 60 33 frequent (33%) Frequent (79-30%) HP:0002516
3 dysmetria 60 33 frequent (33%) Frequent (79-30%) HP:0001310
4 intention tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002080
5 progressive cerebellar ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002073
6 lethargy 60 33 frequent (33%) Frequent (79-30%) HP:0001254
7 headache 60 33 frequent (33%) Frequent (79-30%) HP:0002315
8 delayed cranial suture closure 60 33 frequent (33%) Frequent (79-30%) HP:0000270
9 abnormal brain fdg positron emission tomography 60 33 frequent (33%) Frequent (79-30%) HP:0012658
10 cerebellar medulloblastoma 60 33 frequent (33%) Frequent (79-30%) HP:0007129
11 progressive macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0004481
12 cerebellar ataxia associated with quadrupedal gait 60 33 frequent (33%) Frequent (79-30%) HP:0009878
13 abnormal cranial nerve morphology 33 frequent (33%) HP:0001291
14 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
15 diplopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000651
16 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
17 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
18 irritability 60 33 occasional (7.5%) Occasional (29-5%) HP:0000737
19 progressive visual loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0000529
20 back pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0003418
21 vertigo 60 33 occasional (7.5%) Occasional (29-5%) HP:0002321
22 adenomatous colonic polyposis 60 33 occasional (7.5%) Occasional (29-5%) HP:0005227
23 abnormality of bone marrow cell morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0005561
24 spinal cord tumor 60 33 occasional (7.5%) Occasional (29-5%) HP:0010302
25 bilateral sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0008619
26 cerebellar cyst 60 33 occasional (7.5%) Occasional (29-5%) HP:0002350
27 cerebellar calcifications 60 33 occasional (7.5%) Occasional (29-5%) HP:0007352
28 total ophthalmoplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0007824
29 cerebellar hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0011695
30 neoplasm of the lung 60 33 very rare (1%) Very rare (<4-1%) HP:0100526
31 neuroblastoma 60 33 very rare (1%) Very rare (<4-1%) HP:0003006
32 elevated hepatic transaminase 33 very rare (1%) HP:0002910
33 medulloblastoma 60 33 Obligate (100%) HP:0002885
34 ataxia 60 Frequent (79-30%)
35 elevated hepatic transaminases 60 Very rare (<4-1%)
36 abnormality of the cranial nerves 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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:

47 (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

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

(show top 50) (show all 317)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2068-78-2, 57-22-7 5978
2
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1959-05-2, 59-05-2 126941
3
Carboplatin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 41575-94-4 38904 10339178 498142
4
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
5
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 6055-19-2, 50-18-0 2907
6
Cisplatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15663-27-1 441203 84093 2767
7
Etoposide Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 33419-42-0 36462
8
leucovorin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 58-05-9 6006 143
9
Thiotepa Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 52-24-4 5453
10
Mesna Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 3375-50-6 598
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 59-30-3 6037
12 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
13 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
14 Etoposide phosphate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
15 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
16 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
19 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Topoisomerase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
21 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
22 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Vitamin B9 Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
24 Folate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
25 Antineoplastic Agents, Phytogenic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
26 Dermatologic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
27 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
28 Folic Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
29
Lomustine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 13010-47-4 3950
30
Melphalan Approved Phase 2, Phase 3,Phase 1,Not Applicable 148-82-3 460612 4053
31
Sargramostim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 123774-72-1, 83869-56-1
32
Temozolomide Approved, Investigational Phase 3,Phase 2,Phase 1 85622-93-1 5394
33
Isotretinoin Approved Phase 3,Phase 2,Phase 1,Not Applicable 4759-48-2 5538 5282379
34
Metformin Approved Phase 3 657-24-9 14219 4091
35
Levoleucovorin Approved, Investigational Phase 3,Phase 2,Early Phase 1 68538-85-2
36
Histamine Approved, Investigational Phase 3,Phase 2 51-45-6 774
37
Cyproheptadine Approved Phase 3,Phase 2 129-03-3 2913
38
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
39
Donepezil Approved Phase 3,Phase 2,Early Phase 1 120014-06-4 3152
40
Ondansetron Approved Phase 3 99614-02-5 4595
41
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
42
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 50-02-2 5743
43
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 1177-87-3
44
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Not Applicable 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
45
Tretinoin Approved, Investigational, Nutraceutical Phase 3,Phase 2,Phase 1,Not Applicable 302-79-4 5538 444795
46
Calcium Approved, Nutraceutical Phase 3,Phase 2,Phase 1 7440-70-2 271
47
Emodepside Investigational, Vet_approved Phase 3,Phase 2,Not Applicable 155030-63-0
48 Trofosfamide Investigational Phase 2, Phase 3 22089-22-1
49 Pancreatic Polypeptide Investigational Phase 3,Phase 1 59763-91-6
50 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 266)
# Name Status NCT ID Phase Drugs
1 HeadStart4: Newly Diagnosed Children (<10 y/o) With Medulloblastoma and Other CNS Embryonal Tumors Recruiting NCT02875314 Phase 4 Induction;Single Cycle Intensive Chemotherapy;Tandem 3 Cycle Intensive Chemotherapy
2 Radiation Therapy Plus Combination Chemotherapy in Treating Children With Medulloblastoma Unknown status NCT00053872 Phase 3 cisplatin;lomustine;vincristine sulfate
3 Stem Cell Transplant for High Risk Central Nervous System (CNS) Tumors Unknown status NCT00179803 Phase 2, Phase 3
4 Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer Unknown status NCT01987596 Phase 3
5 Combination Chemotherapy With or Without Etoposide Followed By an Autologous Stem Cell Transplant in Treating Young Patients With Previously Untreated Malignant Brain Tumors Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
6 Hyperfractionated Versus Conventionally Fractionated Radiotherapy in Standard Risk Medulloblastoma Active, not recruiting NCT01351870 Phase 3
7 Comparison of Radiation Therapy Regimens in Combination With Chemotherapy in Treating Young Patients With Newly Diagnosed Standard-Risk Medulloblastoma Completed NCT00085735 Phase 3 Cisplatin;Cyclophosphamide;Lomustine;Vincristine Sulfate
8 Chemotherapy and Radiation Therapy in Treating Young Patients With Newly Diagnosed, Previously Untreated, High-Risk Medulloblastoma Suspended NCT00392327 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Isotretinoin;Vincristine Sulfate
9 Placebo Controlled Double Blind Crossover Trial of Metformin for Brain Repair in Children With Cranial-Spinal Radiation for Medulloblastoma Active, not recruiting NCT02040376 Phase 3 Metformin;Placebo
10 Combination Chemotherapy Followed By Peripheral Stem Cell Transplant in Treating Young Patients With Newly Diagnosed Supratentorial Primitive Neuroectodermal Tumors or High-Risk Medulloblastoma Completed NCT00336024 Phase 3 etoposide;cyclophosphamide;cisplatin;carboplatin;thiotepa;methotrexate;leucovorin calcium;vincristine sulfate
11 Combination Chemotherapy Followed by Second-Look Surgery and Radiation Therapy in Treating Children With Nonmetastatic Medulloblastoma or Primitive Neuroectodermal Tumor Completed NCT00006461 Phase 3 cisplatin;cyclophosphamide;vincristine sulfate;etoposide
12 International Society of Paediatric Oncology (SIOP) PNET 5 Medulloblastoma Recruiting NCT02066220 Phase 2, Phase 3 Reduced-intensity maintenance chemotherapy;Maintenance chemotherapy
13 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
14 Radiation Therapy Plus Combination Chemotherapy in Treating Children With Medulloblastoma Completed NCT00002875 Phase 3 cisplatin;cyclophosphamide;lomustine;mesna;vincristine sulfate
15 Sodium Thiosulfate in Preventing Hearing Loss in Young Patients Receiving Cisplatin for Newly Diagnosed Germ Cell Tumor, Hepatoblastoma, Medulloblastoma, Neuroblastoma, Osteosarcoma, or Other Malignancy Completed NCT00716976 Phase 3 sodium thiosulfate
16 Therapy Optimization Trial for the Treatment of Relapsed or Refractory Brain Tumors in Children Completed NCT00749723 Phase 2, Phase 3 carboplatin;etoposide;temozolomide;thiotepa, carboplatin, etoposide;temozolomide, thiotepa;intraventricular etoposide;trofosfamide, etoposide
17 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
18 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
19 Donepezil in Treating Patients Who Have Undergone Radiation Therapy for Brain Tumors Completed NCT00369785 Phase 3 donepezil hydrochloride;Placebo
20 Acupressure in Controlling Nausea in Young Patients Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
21 Radiation Therapy and Combination Chemotherapy for Medulloblastoma Unknown status NCT02681705 Phase 2 Temozolomide
22 Radiation Therapy and Combination Chemotherapy in Treating Young Patients With Metastatic Medulloblastoma Who Have Undergone Surgery Unknown status NCT00276666 Phase 2 cisplatin;lomustine;vincristine sulfate
23 High Risk Primitive Neuroectodermal (PNET) Brain Tumors in Childhood Unknown status NCT00180791 Phase 2 Etoposide, carboplatin, melphalan, cisplatin, thiotepa
24 Study of Vinorelbine and Cyclofosfamide Among Patients With Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
25 The Use of 5-aminolevulinic Acid (ALA) as an Intraoperative Tumor Marker for Resection of Pediatric Central Nervous System (CNS) Tumors Unknown status NCT02050243 Phase 1, Phase 2 5ALA
26 Proton Radiation For Meningiomas and Hemangiopericytomas Unknown status NCT01117844 Phase 1, Phase 2
27 A 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
28 Combination Chemotherapy With or Without Radiation Therapy in Treating Children With Brain Tumors Unknown status NCT00281905 Phase 2 carboplatin;cisplatin;cyclophosphamide;methotrexate;vincristine sulfate
29 Study of Vismodegib in Combination With Temozolomide Versus Temozolomide Alone in Patients With Medulloblastomas With an Activation of the Sonic Hedgehog Pathway Terminated NCT01601184 Phase 1, Phase 2 vismodegib;Temozolomide
30 Reduced Craniospinal Radiation Therapy and Chemotherapy in Treating Younger Patients With Newly Diagnosed WNT-Driven Medulloblastoma Recruiting NCT02724579 Phase 2 Cisplatin;Cyclophosphamide;Lomustine;Vincristine Sulfate
31 A Clinical and Molecular Risk-Directed Therapy for Newly Diagnosed Medulloblastoma Recruiting NCT01878617 Phase 2 Cyclophosphamide;Cisplatin;Vincristine;Vismodegib;Pemetrexed;Gemcitabine
32 Multicenter Pilot-study for the Therapy of Medulloblastoma of Adults Active, not recruiting NCT01614132 Phase 1, Phase 2 maintenance chemotherapy (vincristin, cisplatin and CCNU)
33 Metronomic and Targeted Anti-angiogenesis Therapy for Children With Recurrent/Progressive Medulloblastoma Recruiting NCT01356290 Phase 2 Bevacizumab;Thalidomide;Celecoxib;Fenofibric acid;Etoposide;Cyclophosphamide;Etoposide phosphate;Cytarabine
34 A Phase II Study of Oral LDE225 in Patients With Hedge-Hog (Hh)-Pathway Activated Relapsed Medulloblastoma (MB) Completed NCT01708174 Phase 2 LDE225;TMZ
35 Interest of a Dose Decrease for Radiotherapy Associated With Chemotherapy for Treatment of Standard Risk Adult Medulloblastomas Recruiting NCT01857453 Phase 2 carboplatine;Etoposide
36 Safety and Efficacy Study of TPI-287 in Neuroblastoma and Medulloblastoma Terminated NCT01483820 Phase 1, Phase 2 TPI 287
37 Vismodegib in Treating Patients With Recurrent or Refractory Medulloblastoma Completed NCT00939484 Phase 2 Vismodegib
38 Study of Nifurtimox to Treat Refractory or Relapsed Neuroblastoma or Medulloblastoma Recruiting NCT00601003 Phase 2 Nifurtimox;Cyclophosphamide;Topotecan
39 Vismodegib in Treating Younger Patients With Recurrent or Refractory Medulloblastoma Completed NCT01239316 Phase 2 Vismodegib
40 Study of Sequential High-dose Chemotherapy in Children With High Risk Medulloblastoma Recruiting NCT02025881 Phase 1, Phase 2 Carboplatin + etoposide;Thiotepa;Cyclophosphamide + Busilvex
41 A Two-Part Study of TB-403 in Pediatric Subjects With Relapsed or Refractory Medulloblastoma Recruiting NCT02748135 Phase 1, Phase 2 TB-403 20mg/kg;TB-403 50mg/kg;TB-403 100mg/kg;TB-403 ≤175mg/kg
42 Vaccine Immunotherapy for Recurrent Medulloblastoma and Primitive Neuroectodermal Tumor Active, not recruiting NCT01326104 Phase 1, Phase 2
43 Etoposide Plus Radiation Therapy Followed by Combination Chemotherapy in Treating Children With Newly Diagnosed Advanced Medulloblastoma Completed NCT00003573 Phase 2 cisplatin;cyclophosphamide;etoposide;vincristine sulfate
44 Concurrent Carboplatin and Reduced Dose Craniospinal Radiation for Medulloblastoma and Primitive Neuroectodermal Tumor (PNET) Completed NCT01542736 Phase 2 Carboplatin;Vincristine
45 Combination Chemotherapy in Treating Younger Patients With Newly Diagnosed, Non-metastatic Desmoplastic Medulloblastoma Active, not recruiting NCT02017964 Phase 2 Carboplatin;Cyclophosphamide;Etoposide;Methotrexate;Vincristine Sulfate
46 Temozolomide and Irinotecan Hydrochloride With or Without Bevacizumab in Treating Young Patients With Recurrent or Refractory Medulloblastoma or CNS Primitive Neuroectodermal Tumors Active, not recruiting NCT01217437 Phase 2 Irinotecan Hydrochloride;Temozolomide
47 Oxaliplatin in Treating Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Completed NCT00047177 Phase 2 Oxaliplatin
48 Low-Dose Radiation Therapy and Combination Chemotherapy Following Surgery in Treating Children With Newly Diagnosed Primitive Neuroectodermal Tumor or Medulloblastoma Terminated NCT00031590 Phase 2 Cisplatin;Cyclophosphamide;Etoposide;Lomustine;Vincristine;Mesna
49 Bevacizumab and Irinotecan in Treating Young Patients With Recurrent, Progressive, or Refractory Glioma, Medulloblastoma, Ependymoma, or Low Grade Glioma Completed NCT00381797 Phase 2 Irinotecan Hydrochloride
50 Chemotherapy, Radiation Therapy, and Peripheral Stem Cell Transplantation in Treating Children With Newly Diagnosed Medulloblastoma or Supratentorial Primitive Neuroectodermal Tumor Completed NCT00003211 Phase 2 amifostine trihydrate;cisplatin;cyclophosphamide;vincristine sulfate

Search NIH Clinical Center for Medulloblastoma

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: medulloblastoma

Genetic Tests for Medulloblastoma

Genetic tests related to Medulloblastoma:

# Genetic test Affiliating Genes
1 Medulloblastoma 30 BRCA2 CTNNB1 PTCH2 SUFU

Anatomical Context for Medulloblastoma

MalaCards organs/tissues related to Medulloblastoma:

42
Brain, Cerebellum, Bone, Bone Marrow, Liver, Lung, Myeloid

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

20
The Lower Part Of The Brain

Publications for Medulloblastoma

Articles related to Medulloblastoma:

(show top 50) (show all 3112)
# Title Authors Year
1
Clinical and magnetic resonance imaging findings of a cerebellar medulloblastoma in a heifer. ( 30656017 )
2019
2
Radiosurgery or hypofractionated stereotactic radiotherapy after craniospinal irradiation in children and adults with medulloblastoma and ependymoma. ( 30515559 )
2019
3
Hypoxia increases chemoresistance in human medulloblastoma DAOY cells via hypoxia‑inducible factor 1α‑mediated downregulation of the CYP2B6, CYP3A4 and CYP3A5 enzymes and inhibition of cell proliferation. ( 30320358 )
2019
4
Deep transcranial magnetic stimulation (dTMS) for treatment of major depressive disorder (MDD) status post-surgical removal of medulloblastoma: A case report of safety. ( 30904422 )
2019
5
Bioinformatics Analysis of Key Genes and Pathways for Medulloblastoma as a Therapeutic Target ( 30678435 )
2019
6
Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots. ( 30680470 )
2019
7
Pilot study of DNA methylation-derived neutrophil-to-lymphocyte ratio and survival in pediatric medulloblastoma. ( 30703618 )
2019
8
Old drugs still work! Oral etoposide in a relapsed medulloblastoma. ( 30707305 )
2019
9
Batch-normalization of cerebellar and medulloblastoma gene expression datasets utilizing empirically defined negative control genes. ( 30715209 )
2019
10
Modulating native GABAA receptors in medulloblastoma with positive allosteric benzodiazepine-derivatives induces cell death. ( 30725256 )
2019
11
Late Morbidity and Mortality Among Medulloblastoma Survivors Diagnosed Across Three Decades: A Report From the Childhood Cancer Survivor Study. ( 30730781 )
2019
12
Anatomo-functional study of the cerebellum in working memory in children treated for medulloblastoma. ( 30731145 )
2019
13
Polyamine Metabolism as a Therapeutic Target inHedgehog-Driven Basal Cell Carcinomaand Medulloblastoma. ( 30754726 )
2019
14
Medulloblastoma. ( 30765705 )
2019
15
Medulloblastoma. ( 30765710 )
2019
16
Leptomeningeal dissemination: a sinister pattern of medulloblastoma growth. ( 30771762 )
2019
17
Three-Dimensional Mass Spectrometry Imaging Identifies Lipid Markers of Medulloblastoma Metastasis. ( 30778099 )
2019
18
Inhibition of the amino-acid transporter LAT1 demonstrates anti-neoplastic activity in medulloblastoma. ( 30784173 )
2019
19
Relapse of a group 4 medulloblastoma after 18 years as proven by histology and DNA methylation profiling. ( 30796558 )
2019
20
Differential Expression of Genes for Ubiquitin Ligases in Medulloblastoma Subtypes. ( 30810905 )
2019
21
TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma. ( 30830316 )
2019
22
Telomere elongation via alternative lengthening of telomeres (ALT) and telomerase activation in primary metastatic medulloblastoma of childhood. ( 30830680 )
2019
23
A simplified approach using Taqman low-density array for medulloblastoma subgrouping. ( 30832734 )
2019
24
Differential Expression of Mitochondrial Biogenesis Markers in Mouse and Human SHH-Subtype Medulloblastoma. ( 30841515 )
2019
25
Potent Antineoplastic Effects of Combined PI3Kα-MNK Inhibition in Medulloblastoma. ( 30842251 )
2019
26
L-4, a Well-Tolerated and Orally Active Inhibitor of Hedgehog Pathway, Exhibited Potent Anti-tumor Effects Against Medulloblastoma in vitro and in vivo. ( 30846937 )
2019
27
Effective and safe tumor inhibition using vinblastine in medulloblastoma. ( 30848061 )
2019
28
SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation. ( 30848346 )
2019
29
MYC drives Group 3 medulloblastoma through transformation of Sox2+ astrocyte progenitor cells. ( 30862721 )
2019
30
Picosecond infrared laser desorption mass spectrometry identifies medulloblastoma subgroups on intrasurgical timescales. ( 30890619 )
2019
31
c-Myc activation promotes cofilin-mediated F-actin cytoskeleton remodeling and telomere homeostasis as a response to oxidant-based DNA damage in medulloblastoma cells. ( 30901604 )
2019
32
New research directions in medulloblastoma. ( 30904166 )
2019
33
Late recurrence of medulloblastoma after 17 years of complete remission. ( 30905661 )
2019
34
The interplay between TGF-β-stimulated TSC22 domain family proteins regulates cell-cycle dynamics in medulloblastoma cells. ( 30912127 )
2019
35
Nomograms based on preoperative multiparametric magnetic resonance imaging for prediction of molecular subgrouping in medulloblastoma: results from a radiogenomics study of 111 patients. ( 29846693 )
2019
36
Establishment and Culture of Patient-Derived Primary Medulloblastoma Cell Lines. ( 30324511 )
2019
37
Computerized assessment of cognitive impairment among children undergoing radiation therapy for medulloblastoma. ( 30467812 )
2019
38
Mitogen-activated kinase kinase kinase 1 inhibits hedgehog signaling and medulloblastoma growth through GLI1 phosphorylation. ( 30483764 )
2019
39
Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors. ( 30523493 )
2019
40
Downregulation of EIF5A2 by miR-221-3p inhibits cell proliferation, promotes cell cycle arrest and apoptosis in medulloblastoma cells. ( 30551723 )
2019
41
Dual Regulatory Functions of SUFU and Targetome of GLI2 in SHH Subgroup Medulloblastoma. ( 30554998 )
2019
42
Cancer risk from low dose radiation in Ptch1+/- mice with inactive DNA repair systems: Therapeutic implications for medulloblastoma. ( 30606609 )
2019
43
PPAR and GST polymorphisms may predict changes in intellectual functioning in medulloblastoma survivors. ( 30607709 )
2019
44
Continuous and bolus intraventricular topotecan prolong survival in a mouse model of leptomeningeal medulloblastoma. ( 30608927 )
2019
45
Synergistic activity of BET inhibitor MK-8628 and PLK inhibitor Volasertib in preclinical models of medulloblastoma. ( 30611741 )
2019
46
Combined functional genomic and chemical screens identify SETD8 as a therapeutic target in MYC-driven medulloblastoma. ( 30626740 )
2019
47
Inhibition of enhancer of zest homologue 2 is a potential therapeutic target for high-MYC medulloblastoma. ( 30632221 )
2019
48
Radiotherapy Advances in Paediatric Medulloblastoma Treatment. ( 30655168 )
2019
49
Identification of CD24 as a marker of Patched1 deleted medulloblastoma-initiating neural progenitor cells. ( 30657775 )
2019
50
Lsd1 as a therapeutic target in Gfi1-activated medulloblastoma. ( 30659187 )
2019

Variations for Medulloblastoma

UniProtKB/Swiss-Prot genetic disease variations for Medulloblastoma:

76
# 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

ClinVar genetic disease variations for Medulloblastoma:

6 (show top 50) (show all 659)
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.604G> A (p.Val202Met) single nucleotide variant Uncertain significance rs751572082 GRCh37 Chromosome 10, 43598056: 43598056
2 RET NM_020975.4(RET): c.604G> A (p.Val202Met) single nucleotide variant Uncertain significance rs751572082 GRCh38 Chromosome 10, 43102608: 43102608
3 TP53 NM_000546.5(TP53): c.814G> A (p.Val272Met) single nucleotide variant Uncertain significance rs121912657 GRCh37 Chromosome 17, 7577124: 7577124
4 TP53 NM_000546.5(TP53): c.814G> A (p.Val272Met) single nucleotide variant Uncertain significance rs121912657 GRCh38 Chromosome 17, 7673806: 7673806
5 SUFU NM_016169.3(SUFU): c.111delC (p.Tyr38Thrfs) deletion Pathogenic rs863224925 GRCh37 Chromosome 10, 104264020: 104264020
6 SUFU NM_016169.3(SUFU): c.111delC (p.Tyr38Thrfs) deletion Pathogenic rs863224925 GRCh38 Chromosome 10, 102504263: 102504263
7 SUFU NM_016169.3(SUFU): c.44C> T (p.Pro15Leu) single nucleotide variant Pathogenic rs28942088 GRCh37 Chromosome 10, 104263953: 104263953
8 SUFU NM_016169.3(SUFU): c.44C> T (p.Pro15Leu) single nucleotide variant Pathogenic rs28942088 GRCh38 Chromosome 10, 102504196: 102504196
9 SUFU SUFU, 1-BP INS, 143A insertion Pathogenic
10 SUFU NM_016169.3(SUFU): c.1022+1G> A single nucleotide variant Pathogenic rs587776578 GRCh37 Chromosome 10, 104359302: 104359302
11 SUFU NM_016169.3(SUFU): c.1022+1G> A single nucleotide variant Pathogenic rs587776578 GRCh38 Chromosome 10, 102599545: 102599545
12 SUFU SUFU, 2.5-Mb DEL deletion Pathogenic
13 SUFU NM_016169.3(SUFU): c.71delC (p.Pro24Argfs) deletion Pathogenic rs587776579 GRCh37 Chromosome 10, 104263980: 104263980
14 SUFU NM_016169.3(SUFU): c.71delC (p.Pro24Argfs) deletion Pathogenic rs587776579 GRCh38 Chromosome 10, 102504223: 102504223
15 SUFU SUFU, 1-BP INS, 71C insertion Pathogenic
16 WRN NM_000553.5(WRN): c.1105C> T (p.Arg369Ter) single nucleotide variant Pathogenic/Likely pathogenic rs17847577 GRCh37 Chromosome 8, 30938648: 30938648
17 WRN NM_000553.5(WRN): c.1105C> T (p.Arg369Ter) single nucleotide variant Pathogenic/Likely pathogenic rs17847577 GRCh38 Chromosome 8, 31081132: 31081132
18 PTCH2 NM_001166292.1(PTCH2): c.1172_1173delCT (p.Ser391Terfs) deletion Likely pathogenic rs56126236 GRCh37 Chromosome 1, 45295116: 45295117
19 PTCH2 NM_001166292.1(PTCH2): c.1172_1173delCT (p.Ser391Terfs) deletion Likely pathogenic rs56126236 GRCh38 Chromosome 1, 44829444: 44829445
20 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
21 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh38 Chromosome 13, 32329469: 32329470
22 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
23 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh38 Chromosome 13, 32340000: 32340000
24 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
25 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh38 Chromosome 17, 7674221: 7674221
26 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
27 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
28 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Likely pathogenic rs121912657 GRCh37 Chromosome 17, 7577124: 7577124
29 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Likely pathogenic rs121912657 GRCh38 Chromosome 17, 7673806: 7673806
30 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
31 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh38 Chromosome 17, 7673802: 7673802
32 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
33 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
34 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
35 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
36 PIK3CA NM_006218.3(PIK3CA): c.1636C> G (p.Gln546Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
37 PIK3CA NM_006218.3(PIK3CA): c.1636C> G (p.Gln546Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh38 Chromosome 3, 179218306: 179218306
38 PIK3CA NM_006218.3(PIK3CA): c.1636C> A (p.Gln546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
39 PIK3CA NM_006218.3(PIK3CA): c.1636C> A (p.Gln546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh38 Chromosome 3, 179218306: 179218306
40 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh37 Chromosome 1, 115258745: 115258745
41 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh38 Chromosome 1, 114716124: 114716124
42 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 GRCh37 Chromosome 1, 115258744: 115258744
43 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 GRCh38 Chromosome 1, 114716123: 114716123
44 CTNNB1 NM_001904.3(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
45 CTNNB1 NM_001904.3(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh38 Chromosome 3, 41224610: 41224610
46 CTNNB1 NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913396 GRCh37 Chromosome 3, 41266098: 41266098
47 CTNNB1 NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913396 GRCh38 Chromosome 3, 41224607: 41224607
48 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
49 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh38 Chromosome 3, 41224622: 41224622
50 CTNNB1 NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28931588 GRCh37 Chromosome 3, 41266097: 41266097

Cosmic variations for Medulloblastoma:

9 (show all 44)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM11517 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.377A>G p.Y126C 17:7675235-7675235 0
2 COSM3727816 TP53 central nervous system,cerebellum,glioma,anaplastic c.562C>A p.L188M 17:7674969-7674969 0
3 COSM43651 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.763A>T p.I255F 17:7674200-7674200 0
4 COSM11183 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.799C>T p.R267W 17:7673821-7673821 0
5 COSM10656 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.742C>T p.R248W 17:7674221-7674221 0
6 COSM10738 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.542G>A p.R181H 17:7675070-7675070 0
7 COSM10662 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.743G>A p.R248Q 17:7674220-7674220 0
8 COSM53285 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.379T>A p.S127T 17:7675233-7675233 0
9 COSM3727817 TP53 central nervous system,cerebellum,glioma,anaplastic c.1118A>G p.K373R 17:7669673-7669673 0
10 COSM10648 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.524G>A p.R175H 17:7675088-7675088 0
11 COSM10660 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.818G>A p.R273H 17:7673802-7673802 0
12 COSM10704 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.844C>T p.R282W 17:7673776-7673776 0
13 COSM10659 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.817C>T p.R273C 17:7673803-7673803 0
14 COSM6932 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.733G>A p.G245S 17:7674230-7674230 0
15 COSM96955 SUFU central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,large cell c.1084C>T p.R362C 10:102615329-102615329 0
16 COSM1371 SUFU central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.1022+1G>A p.? 10:102599545-102599545 0
17 COSM13144 SMO central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.1598G>A p.S533N 7:129210494-129210494 0
18 COSM14464 PTCH1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.1804C>T p.R602* 9:95469856-95469856 0
19 COSM17438 PTCH1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.2503G>T p.E835* 9:95467173-95467173 0
20 COSM585 NRAS central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.183A>T p.Q61H 1:114713907-114713907 0
21 COSM580 NRAS central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.181C>A p.Q61K 1:114713909-114713909 0
22 COSM5991649 CXCR4 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,classic c.301G>A p.D101N 2:136115639-136115639 0
23 COSM5673 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>A p.S33Y 3:41224610-41224610 0
24 COSM5679 CTNNB1 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.110C>G p.S37C 3:41224622-41224622 0
25 COSM5669 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>T p.S33F 3:41224610-41224610 0
26 COSM5682 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.97T>C p.S33P 3:41224609-41224609 0
27 COSM5677 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>G p.S33C 3:41224610-41224610 0
28 COSM5672 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.94G>A p.D32N 3:41224606-41224606 0
29 COSM5670 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.101G>T p.G34V 3:41224613-41224613 0
30 COSM5675 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.109T>G p.S37A 3:41224621-41224621 0
31 COSM5686 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.100G>A p.G34R 3:41224612-41224612 0
32 COSM5671 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.101G>A p.G34E 3:41224613-41224613 0
33 COSM5691 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.95A>T p.D32V 3:41224607-41224607 0
34 COSM5661 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.94G>T p.D32Y 3:41224606-41224606 0
35 COSM5690 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.95A>C p.D32A 3:41224607-41224607 0
36 COSM5666 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.110C>A p.S37Y 3:41224622-41224622 0
37 COSM5687 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.109T>C p.S37P 3:41224621-41224621 0
38 COSM5664 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.121A>G p.T41A 3:41224633-41224633 0
39 COSM5667 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.134C>T p.S45F 3:41224646-41224646 0
40 COSM5718 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.149G>A p.G50D 3:41224661-41224661 0
41 COSM5662 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.110C>T p.S37F 3:41224622-41224622 0
42 COSM476 BRAF central nervous system,cerebellum,glioma,anaplastic c.1799T>A p.V600E 7:140753336-140753336 0
43 COSM4972316 AXIN2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.2087A>G p.Q696R 17:65536374-65536374 0
44 COSM133744 AXIN1 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,classic c.652C>T p.P218S 16:346374-346374 0

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:

38
# 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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 CTNNB1 NRAS PTCH1 PTCH2 SMO SUFU
2
Show member pathways
12.77 BRCA2 CTNNB1 FGFR1 NRAS PIK3CA TP53
3
Show member pathways
12.6 BRCA2 CTNNB1 FGFR1 NRAS PIK3CA TP53
4
Show member pathways
12.59 BRCA2 FGFR1 NRAS PIK3CA TP53
5
Show member pathways
12.39 FGFR1 NRAS PIK3CA TP53
6 12.38 BRCA2 CTNNB1 FGFR1 NRAS PIK3CA PTCH1
7
Show member pathways
12.3 CTNNB1 FGFR1 NRAS PIK3CA TP53
8 12.25 CTNNB1 NRAS PIK3CA TP53
9
Show member pathways
12.22 CTNNB1 PTCH1 PTCH2 SMO SUFU TP53
10
Show member pathways
12.2 MIR17 MIR18A MIR19A MIR20A TP53
11 12.14 CTNNB1 PTCH1 PTCH2 SUFU
12 12.13 NRAS PIK3CA PTCH1 SMO
13
Show member pathways
12.1 FGFR1 NRAS PIK3CA TP53
14 12.04 FGFR1 NRAS PIK3CA TP53
15 12 CTNNB1 FGFR1 NRAS PIK3CA
16 12 CTNNB1 FGFR1 NRAS PIK3CA PTCH1 SMO
17
Show member pathways
11.95 PTCH1 PTCH2 SMO SUFU
18 11.88 CTNNB1 NRAS PIK3CA TP53
19 11.86 CTNNB1 NRAS PIK3CA TP53
20 11.84 MIR125A MIR17 MIR18A MIR19A MIR20A MIR30B
21
Show member pathways
11.76 FGFR1 NRAS PIK3CA
22
Show member pathways
11.7 FGFR1 NRAS PIK3CA
23 11.63 MIR17 MIR18A MIR19A MIR20A
24 11.53 FGFR1 IDH1 NRAS PIK3CA TP53
25 11.22 CTNNB1 FGFR1 PIK3CA
26
Show member pathways
11.19 PIK3CA PTCH1 PTCH2 SMO

GO Terms for Medulloblastoma

Cellular components related to Medulloblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 micro-ribonucleoprotein complex GO:0035068 9.17 MIR125A MIR17 MIR19A MIR20A MIR30B MIR326

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.95 CTNNB1 MIR19A SMO TP53
2 brain development GO:0007420 9.92 BRCA2 FGFR1 PTCH1 WRN
3 regulation of gene expression GO:0010468 9.89 CTNNB1 FGFR1 PIK3CA SMO
4 in utero embryonic development GO:0001701 9.86 CTNNB1 FGFR1 PTCH1 SMO
5 positive regulation of gene expression GO:0010628 9.8 CTNNB1 MIR125A MIR30B MIR34A SMO TP53
6 negative regulation of angiogenesis GO:0016525 9.78 CTNNB1 MIR125A MIR30B MIR34A
7 smoothened signaling pathway GO:0007224 9.76 PTCH1 PTCH2 SMO
8 skin development GO:0043588 9.72 CTNNB1 PTCH2 SUFU
9 dorsal/ventral pattern formation GO:0009953 9.7 CTNNB1 PTCH1 SMO
10 response to estradiol GO:0032355 9.66 CTNNB1 PTCH1
11 cellular response to cholesterol GO:0071397 9.65 PTCH1 SMO
12 somite development GO:0061053 9.65 PTCH1 SMO
13 determination of adult lifespan GO:0008340 9.64 TP53 WRN
14 dorsal/ventral neural tube patterning GO:0021904 9.64 PTCH1 SMO
15 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.63 BRCA2 TP53
16 mammary gland epithelial cell differentiation GO:0060644 9.63 PTCH1 SMO
17 cell aging GO:0007569 9.63 BRCA2 TP53 WRN
18 negative regulation of gene expression GO:0010629 9.63 CTNNB1 FGFR1 MIR125A MIR17 MIR20A SMO
19 commissural neuron axon guidance GO:0071679 9.62 PTCH1 SMO
20 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.61 MIR17 MIR20A
21 response to UV-C GO:0010225 9.61 BRCA2 WRN
22 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 CTNNB1 FGFR1 SMO
23 lung-associated mesenchyme development GO:0060484 9.58 CTNNB1 FGFR1
24 negative regulation of smoothened signaling pathway GO:0045879 9.58 PTCH1 PTCH2 SUFU
25 positive regulation of epidermal cell differentiation GO:0045606 9.57 PTCH1 PTCH2
26 gene silencing by miRNA GO:0035195 9.56 MIR125A MIR17 MIR18A MIR19A MIR20A MIR30B
27 chordate embryonic development GO:0043009 9.54 BRCA2 FGFR1
28 renal system development GO:0072001 9.54 CTNNB1 PTCH1 SMO
29 epidermal cell fate specification GO:0009957 9.51 PTCH1 PTCH2
30 positive regulation of pulmonary blood vessel remodeling GO:1905111 9.49 MIR17 MIR20A
31 cell fate determination GO:0001709 9.43 CTNNB1 PTCH1 PTCH2
32 negative regulation of sprouting angiogenesis GO:1903671 9.02 MIR17 MIR18A MIR19A MIR20A MIR34A
33 negative regulation of transcription by RNA polymerase II GO:0000122 10.08 CTNNB1 FGFR1 PTCH1 SMO SUFU TP53

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 PTCH1 SMO
2 hedgehog family protein binding GO:0097108 9.26 PTCH1 PTCH2
3 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.17 MIR125A MIR17 MIR18A MIR19A MIR20A MIR30B
4 hedgehog receptor activity GO:0008158 9.16 PTCH1 PTCH2
5 smoothened binding GO:0005119 8.96 PTCH1 PTCH2

Sources for Medulloblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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