MDB
MCID: MDL005
MIFTS: 75

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 73 20 58 72 36 29 13 54 6 44 15 39 17 70
Mdb 57 20 72
Localized Primitive Neuroectodermal Tumor 12 70
Medulloblastoma with Extensive Nodularity 58 6
Medulloblastoma, Desmoplastic 57 6
Desmoplastic Medulloblastoma 17 70
Classic Medulloblastoma 58 70
Cpnet 12 70
Infratentorial Primitive Neuroectodermal Tumor 12
Medulloblastoma, with Extensive Nodularity 70
Desmoplastic/nodular Medulloblastoma 58
Neuroectodermal Tumors, Primitive 44
Medulloblastoma Desmoplastic 54
Medulloblastoma, Somatic 57
Brain Medulloblastoma 12
Medulloblastomas 15
Cns Pnet 12
Mben 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
Inheritance:
somatic mutation
autosomal recessive
autosomal dominant

Miscellaneous:
incomplete penetrance


HPO:

31

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050902
OMIM® 57 155255
KEGG 36 H01667
SNOMED-CT 67 189925001 443333004
MESH via Orphanet 45 D008527
ICD10 via Orphanet 33 C71.6
UMLS via Orphanet 71 C0025149 C0751291
UMLS 70 C0025149 C0206663 C0751291 more

Summaries for Medulloblastoma

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 616 Definition Medulloblastoma (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. Epidemiology MB 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 description Age 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). Etiology To 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 methods MB 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 diagnosis Differential 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 treatment Initially, 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. Prognosis The 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.

MalaCards based summary : Medulloblastoma, also known as mdb, is related to childhood medulloblastoma and nodular medulloblastoma, and has symptoms including vomiting, headache and gait ataxia. 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 Lenograstim and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include lower part of the brain, brain and cerebellum, 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 (see 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) (Updated 05-Apr-2021)

KEGG : 36 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 : 72 Medulloblastoma: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

Wikipedia : 73 Medulloblastoma is a common type of primary brain cancer in children. It originates in the part of the... 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 634)
# Related Disease Score Top Affiliating Genes
1 childhood medulloblastoma 33.2 SUFU PTCH1 CTNNB1
2 nodular medulloblastoma 33.0 SUFU PTCH2 PTCH1 CTNNB1
3 basal cell nevus syndrome 32.9 SUFU SMO PTCH2 PTCH1 LOC100507346 CTNNB1
4 melanotic medulloblastoma 32.8 SUFU PTCH1
5 adult medulloblastoma 32.7 SUFU PTCH1
6 large cell medulloblastoma 32.5 SUFU BRCA2
7 basal cell carcinoma 32.0 SUFU SMO PTCH2 PTCH1 CTNNB1 CDKN2B-AS1
8 brain cancer 31.7 PTCH1 CTNNB1 BRCA2 APC
9 li-fraumeni syndrome 31.4 SUFU PTCH1 CTNNB1 BRCA2
10 glioma 31.4 MIR34A MIR20A MIR19A MIR17 CDKN2B-AS1 BRCA2
11 rhabdomyosarcoma 31.4 SUFU PTCH2 PTCH1 CTNNB1 BRCA2
12 malignant astrocytoma 31.3 MIR19A MIR17 MIR125A CTNNB1
13 cowden syndrome 31.0 MIR19A CTNNB1 BRCA2 APC
14 medullomyoblastoma 30.9 SUFU SMO
15 craniopharyngioma 30.6 SUFU PTCH1 CTNNB1 APC
16 muscular dystrophy, duchenne type 30.6 MIR34A MIR30D MIR30B MIR199B
17 basal cell carcinoma 1 30.6 SMO PTCH2 PTCH1 LOC100507346
18 leukemia, acute lymphoblastic 30.6 MIR199B MIR18A MIR17 MIR125A CDKN2B-AS1 APC
19 focal dermal hypoplasia 30.6 SUFU PTCH2 PTCH1
20 skin carcinoma 30.5 SUFU SMO PTCH2 PTCH1 MIR34A MIR17
21 peripheral nervous system disease 30.5 MIR34A MIR324 MIR17 MIR125A CTNNB1
22 lynch syndrome 30.5 MIR17 CTNNB1 BRCA2 APC
23 pancreatic cancer 30.5 SMO PTCH1 MIR34A MIR20A MIR17 MIR125A
24 gastric cancer 30.3 PTCH1 MIR34A MIR20A MIR17 MIR125A CTNNB1
25 meningioma, radiation-induced 30.3 SUFU SMO
26 leukemia, acute myeloid 30.2 MIR34A MIR326 MIR324 MIR30D MIR199B MIR18A
27 nervous system cancer 30.1 MIR34A MIR30B MIR19A MIR18A MIR17 MIR125A
28 in situ carcinoma 30.1 MIR17 CTNNB1 BRCA2
29 colorectal adenoma 30.1 MIR17 CTNNB1 APC
30 hematologic cancer 30.0 MIR34A MIR20A MIR19A MIR18A MIR17 MIR125A
31 melanoma 30.0 MIR34A MIR324 MIR30B MIR19A MIR199B MIR17
32 leukemia, chronic myeloid 29.9 MIR20A MIR19A MIR18A MIR17 MIR125A
33 nasopharyngeal carcinoma 29.8 MIR324 MIR17 MIR125A CTNNB1 CDKN2B-AS1
34 central nervous system disease 29.8 MIR34A MIR30B MIR18A MIR17 MIR125A
35 central nervous system cancer 29.7 PTCH1 MIR34A MIR324 MIR30B MIR19A MIR18A
36 lung cancer 29.7 MIR34A MIR324 MIR30D MIR30B MIR20A MIR19A
37 lymphoma, hodgkin, classic 29.6 MIR30B MIR20A MIR18A
38 nervous system disease 29.5 MIR34A MIR324 MIR30B MIR20A MIR19A MIR18A
39 cerebellar medulloblastoma 11.3
40 medulloblastoma shh activated and tp53 wild-type 11.2
41 cerebellar vermis medulloblastoma 11.2
42 medulloblastoma wnt activated 11.2
43 childhood central nervous system primitive neuroectodermal neoplasm 11.2
44 medulloblastoma shh activated 11.2
45 medulloblastoma shh activated and tp53 mutant 11.2
46 medulloblastoma non-wnt/non-shh 11.2
47 medulloblastoma non-wnt/non-shh group 3 11.2
48 medulloblastoma non-wnt/non-shh group 4 11.2
49 adult central nervous system primitive neuroectodermal neoplasm 11.1
50 anaplastic/large cell medulloblastoma 11.1

Graphical network of the top 20 diseases related to Medulloblastoma:



Diseases related to Medulloblastoma

Symptoms & Phenotypes for Medulloblastoma

Human phenotypes related to Medulloblastoma:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
2 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
3 abnormal cranial nerve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001291
4 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
5 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
6 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
7 delayed cranial suture closure 58 31 frequent (33%) Frequent (79-30%) HP:0000270
8 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
9 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
10 cerebellar medulloblastoma 58 31 frequent (33%) Frequent (79-30%) HP:0007129
11 abnormal brain fdg positron emission tomography 58 31 frequent (33%) Frequent (79-30%) HP:0012658
12 progressive macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0004481
13 cerebellar ataxia associated with quadrupedal gait 58 31 frequent (33%) Frequent (79-30%) HP:0009878
14 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
15 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
16 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
17 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
18 progressive visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000529
19 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
20 back pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0003418
21 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
22 adenomatous colonic polyposis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005227
23 abnormality of bone marrow cell morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005561
24 spinal cord tumor 58 31 occasional (7.5%) Occasional (29-5%) HP:0010302
25 bilateral sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008619
26 cerebellar cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0002350
27 cerebellar calcifications 58 31 occasional (7.5%) Occasional (29-5%) HP:0007352
28 total ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007824
29 cerebellar hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0011695
30 elevated hepatic transaminase 58 31 very rare (1%) Very rare (<4-1%) HP:0002910
31 neoplasm of the lung 58 31 very rare (1%) Very rare (<4-1%) HP:0100526
32 neuroblastoma 58 31 very rare (1%) Very rare (<4-1%) HP:0003006
33 medulloblastoma 58 31 Obligate (100%) HP:0002885
34 ataxia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Medulloblastoma:


vomiting; headache; gait ataxia; cerebellar ataxia/dyskinesia

MGI Mouse Phenotypes related to Medulloblastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.17 APC BRCA2 CTNNB1 PTCH1 PTCH2 SMO

Drugs & Therapeutics for Medulloblastoma

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

(show top 50) (show all 244)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 4 135968-09-1
2
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
3
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
4
leucovorin Approved Phase 4 58-05-9 6006
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
6 Folic Acid Antagonists Phase 4
7 Vitamin B9 Phase 4
8 Dermatologic Agents Phase 4
9 Folate Phase 4
10 Vitamin B Complex Phase 4
11 Antimetabolites Phase 4
12
Temozolomide Approved, Investigational Phase 2, Phase 3 85622-93-1 5394
13
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
14
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
15
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
16
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
17
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
18
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
19
Lomustine Approved, Investigational Phase 3 13010-47-4 3950
20
Mesna Approved, Investigational Phase 3 3375-50-6 598
21
Metformin Approved Phase 3 657-24-9 4091 14219
22
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
23
Daunorubicin Approved Phase 3 20830-81-3 30323
24
Isotretinoin Approved Phase 3 4759-48-2 5282379 5538
25 Grape Approved Phase 3
26 Cranberry Approved, Investigational Phase 3
27
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
28
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 444795 5538
29
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 68-26-8, 11103-57-4 445354
30
Trofosfamide Investigational Phase 2, Phase 3 22089-22-1
31 Alkylating Agents Phase 2, Phase 3
32 Etoposide phosphate Phase 2, Phase 3
33 Tubulin Modulators Phase 3
34 Antimitotic Agents Phase 3
35 Anti-Infective Agents Phase 3
36 Antirheumatic Agents Phase 2, Phase 3
37 Protective Agents Phase 3
38 Liver Extracts Phase 3
39 Antidotes Phase 3
40 Anti-Bacterial Agents Phase 3
41 Antitubercular Agents Phase 3
42 Chelating Agents Phase 3
43 sodium thiosulfate Phase 3
44 Antioxidants Phase 3
45 Hypoglycemic Agents Phase 3
46 Vaccines Phase 3
47 Keratolytic Agents Phase 3
48 Podophyllotoxin Phase 3 518-28-5
49 Nutrients Phase 3
50 Micronutrients Phase 3

Interventional clinical trials:

(show top 50) (show all 274)
# 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 A Prospective Randomised Controlled Trial Of Hyperfractionated Versus Conventionally Fractionated Radiotherapy In Standard Risk Medulloblastoma Unknown status NCT00053872 Phase 3 cisplatin;lomustine;vincristine sulfate
3 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
4 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
5 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
6 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
7 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
8 A Randomized Phase III Study of Sodium Thiosulfate for the Prevention of Cisplatin-Induced Ototoxicity in Children Completed NCT00716976 Phase 3 sodium thiosulfate
9 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
10 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 Active, not recruiting NCT00336024 Phase 3 etoposide;cyclophosphamide;cisplatin;carboplatin;thiotepa;methotrexate;leucovorin calcium;vincristine sulfate
11 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
12 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
13 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
14 A Multi-Center Phase III, Randomized, Open-Label Trial of Vigil (Bi-shRNAfurin and GMCSF Augmented Autologous Tumor Cell Immunotherapy) in Combination With Irinotecan and Temozolomide as a Second-Line Regimen for Ewing's Sarcoma Active, not recruiting NCT03495921 Phase 3 Irinotecan;Temozolomide
15 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
16 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 Active, not recruiting NCT00085735 Phase 3 Cisplatin;Cyclophosphamide;Lomustine;Vincristine Sulfate
17 A Prospective Randomised Controlled Trial of Hyperfractionated Versus Conventionally Fractionated Radiotherapy in Standard Risk Medulloblastoma Active, not recruiting NCT01351870 Phase 3
18 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Terminated NCT01987596 Phase 3
19 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
20 A Randomized, Placebo-Controlled Pilot Study of Genistein Supplementation in Pediatric Cancer Patients Receiving Myelosuppressive Chemotherapy Unknown status NCT02624388 Phase 2 Genistein;Placebo
21 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
22 Phase 2 Study of Radiation Therapy and Combination Chemotherapy Following Surgery in Treating Children With Newly Diagnosed Medulloblastoma Unknown status NCT02681705 Phase 2 Temozolomide
23 Hyperfractionated Accelerated Radiotherapy (HART) With Chemotherapy (Cisplatin, CCNU, Vincristine) for Metastatic (M1-3) Medulloblastoma Unknown status NCT00276666 Phase 2 cisplatin;lomustine;vincristine sulfate
24 Phase II Study of Vinorelbine + Cyclofosfamide Association Among Patients Reached of Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
25 Dosimetry-Guided 90Y-DOTA-tyr3-Octreotide (90Y-DOTATOC) Peptide Receptor Radiotherapy (PRRT) in Children & Adults With Neuroendocrine and Other Somatostatin Receptor Expressing Tumors Determined by 68Ga-DOTA-tyr3-Octreotide (68Ga-DOTATOC) PET Unknown status NCT02441088 Phase 2 90Y-DOTA-tyr3-Octreotide;Aminosyn II
26 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 Completed NCT00179803 Phase 2
27 Multicenter Pilot-study for the Therapy of Medulloblastoma of Adults (NOA-07) Completed NCT01614132 Phase 1, Phase 2 maintenance chemotherapy (vincristin, cisplatin and CCNU)
28 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
29 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
30 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
31 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
32 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
33 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
34 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
35 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
36 A Phase II Study of Single Agent Depsipeptide (FK228) in Metastatic or Unresectable Soft Tissue Sarcomas Completed NCT00112463 Phase 2 romidepsin
37 A Phase 1B/II Study of GDC-0449 (NSC 747691) in Combination With RO4929097, a Gamma-Secretase Inhibitor (GSI) in Advanced/Metastatic Sarcomas Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
38 A Phase II Clinical and Correlative Study of BAY 43-9006 (Sorafenib) IND 69,896 in Sarcoma Completed NCT00330421 Phase 2 sorafenib tosylate
39 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
40 Phase II Study of Cyclophosphamide, Doxorubicin, Vincristine, Etoposide, and Ifosfamide, Followed by Resection and Radiotherapy in Patients With Peripheral Primitive Neuroectodermal Tumors or Ewing's Sarcoma Completed NCT00002466 Phase 2 cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
41 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
42 A Phase II Study of MLN8237, a Selective Aurora A Kinase Inhibitor in Children With Recurrent/Refractory Solid Tumors and Leukemias Completed NCT01154816 Phase 2 Alisertib
43 A Phase II Study of Oxaliplatin in Children With Recurrent Solid Tumors Completed NCT00091182 Phase 2 oxaliplatin
44 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
45 A Phase 2 Study of AMG 479 in Relapsed or Refractory Ewing's Family Tumor and Desmoplastic Small Round Cell Tumors Completed NCT00563680 Phase 2 AMG 479
46 A Phase II Study of Cixutumumab (IMC-A12) in Combination With Temsirolimus in Pediatric Patients With Recurrent or Refractory Solid Tumors Completed NCT01614795 Phase 2 Temsirolimus
47 A Pilot Study of Tumor Vaccination and R-hIL-7 Following Standard Multimodality Therapy in Patients With High Risk Pediatric Solid Tumors Completed NCT00923351 Phase 1, Phase 2 Tumor Purged/CD25 Depleted Lymphocytes;rhIL-7
48 A Five-Tier, Phase 2 Open-Label Study of IMC-A12 Administered as a Single Agent Every 2 Weeks in Patients With Previously-Treated, Advanced or Metastatic Soft Tissue and Ewing's Sarcoma/PNET Completed NCT00668148 Phase 2
49 A Phase 1/2 Study of BMN 673, an Oral Poly(ADP-Ribose) Polymerase Inhibitor, Plus Temozolomide in Children With Refractory or Recurrent Malignancies Completed NCT02116777 Phase 1, Phase 2 Talazoparib;Temozolomide
50 A Randomized Phase II Study of Bevacizumab (NSC 704865) Combined With Vincristine, Topotecan and Cyclophosphamide in Patients With First Recurrent Ewing Sarcoma Completed NCT00516295 Phase 2 topotecan hydrochloride;vincristine sulfate;cyclophosphamide

Search NIH Clinical Center for Medulloblastoma

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Carmustine

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

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

19
Lower Part Of The Brain

MalaCards organs/tissues related to Medulloblastoma:

40
Brain, Cerebellum, Bone, Bone Marrow, Spinal Cord, Myeloid, Lung

Publications for Medulloblastoma

Articles related to Medulloblastoma:

(show top 50) (show all 7419)
# Title Authors PMID Year
1
APC mutations in sporadic medulloblastomas. 61 57 54 6
10666372 2000
2
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. 6 57 61
19833601 2010
3
Mutations in SUFU predispose to medulloblastoma. 61 6 57
12068298 2002
4
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. 57 6
15689453 2005
5
Bmi1 is essential for cerebellar development and is overexpressed in human medulloblastomas. 54 61 57
15029199 2004
6
BMP-2 mediates retinoid-induced apoptosis in medulloblastoma cells through a paracrine effect. 54 61 57
12872164 2003
7
Expression profiling of medulloblastoma: PDGFRA and the RAS/MAPK pathway as therapeutic targets for metastatic disease. 54 57 61
11544480 2001
8
Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. 61 6 54
9931336 1999
9
DMBT1, a new member of the SRCR superfamily, on chromosome 10q25.3-26.1 is deleted in malignant brain tumours. 57 54 61
9288095 1997
10
Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis. 57 61 54
1347196 1992
11
Germline Elongator mutations in Sonic Hedgehog medulloblastoma. 61 57
32296180 2020
12
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma. 57 61
31664194 2019
13
The whole-genome landscape of medulloblastoma subtypes. 61 57
28726821 2017
14
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. 6 61
25403219 2014
15
Novel mutations target distinct subgroups of medulloblastoma. 57 61
22722829 2012
16
Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. 57 61
22820256 2012
17
Subgroup-specific structural variation across 1,000 medulloblastoma genomes. 61 57
22832581 2012
18
Dissecting the genomic complexity underlying medulloblastoma. 61 57
22832583 2012
19
High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. 61 6
22508808 2012
20
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma. 61 6
21188540 2011
21
The genetic landscape of the childhood cancer medulloblastoma. 61 57
21163964 2011
22
Subtypes of medulloblastoma have distinct developmental origins. 57 61
21150899 2010
23
Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 6 61
19726788 2009
24
Treatment of medulloblastoma with hedgehog pathway inhibitor GDC-0449. 61 57
19726761 2009
25
Identification of a SUFU germline mutation in a family with Gorlin syndrome. 6 61
19533801 2009
26
Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 57 61
19270706 2009
27
MicroRNA profiling in human medulloblastoma. 54 47 61
18973228 2009
28
Signaling pathways in medulloblastoma. 61 57
18651559 2008
29
Medulloblastoma in childhood: new biological advances. 61 57
18031705 2007
30
CIC, a gene involved in cerebellar development and ErbB signaling, is significantly expressed in medulloblastomas. 61 57
15981098 2005
31
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 6 61
14670928 2004
32
PDGFRB is overexpressed in metastatic medulloblastoma. 61 57
14593398 2003
33
Medulloblastoma growth inhibition by hedgehog pathway blockade. 61 57
12202832 2002
34
Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping. 61 57
10969942 2000
35
Induction of medulloblastomas in p53-null mutant mice by somatic inactivation of Rb in the external granular layer cells of the cerebellum. 57 61
10783170 2000
36
The molecular basis of Turcot's syndrome. 61 57
7661930 1995
37
Deletion mapping of the medulloblastoma locus on chromosome 17p. 61 57
1979050 1990
38
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 6
26619011 2016
39
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 6
25157968 2014
40
Vismodegib. 6
22679179 2012
41
MicroRNA-34a inhibits glioblastoma growth by targeting multiple oncogenes. 47 61
19773441 2009
42
Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma. 61 47
19584924 2009
43
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. 47 61
19351822 2009
44
The miR-17~92 cluster collaborates with the Sonic Hedgehog pathway in medulloblastoma. 47 61
19196975 2009
45
MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. 47 61
19308264 2009
46
Concerted microRNA control of Hedgehog signalling in cerebellar neuronal progenitor and tumour cells. 61 47
18756266 2008
47
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 6
16825431 2007
48
Prediction of central nervous system embryonal tumour outcome based on gene expression. 57
11807556 2002
49
A common human skin tumour is caused by activating mutations in beta-catenin. 6
10192393 1999
50
Inhibition of Aurora Kinase A enhances chemosensitivity of medulloblastoma cell lines. 54 61
20232424 2010

Variations for Medulloblastoma

ClinVar genetic disease variations for Medulloblastoma:

6 (show top 50) (show all 639)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DDX3X NM_001356.4(DDX3X):c.1592G>A (p.Arg531His) SNV other 438760 rs1555954275 GRCh37: X:41205852-41205852
GRCh38: X:41346599-41346599
2 ARID1B NM_017519.2(ARID1B):c.3306+1G>A SNV other 438752 rs1554231278 GRCh37: 6:157502313-157502313
GRCh38: 6:157181179-157181179
3 DDX3X NM_001356.4(DDX3X):c.1033G>C (p.Val345Leu) SNV other 438761 rs1555953796 GRCh37: X:41204440-41204440
GRCh38: X:41345187-41345187
4 NONO NM_007363.5(NONO):c.731dup (p.Asn244fs) Duplication other 438778 rs1555950011 GRCh37: X:70516489-70516490
GRCh38: X:71296639-71296640
5 FOXO3 NM_001455.4(FOXO3):c.699G>A (p.Trp233Ter) SNV other 438764 rs1554218944 GRCh37: 6:108984735-108984735
GRCh38: 6:108663532-108663532
6 SMARCA4 NM_001128849.2(SMARCA4):c.2729C>T (p.Thr910Met) SNV other 438790 rs1238758086 GRCh37: 19:11132513-11132513
GRCh38: 19:11021837-11021837
7 ARID1A NM_006015.6(ARID1A):c.2732G>T (p.Arg911Met) SNV other 438751 rs1553152166 GRCh37: 1:27089776-27089776
GRCh38: 1:26763285-26763285
8 DDX3X NM_001356.4(DDX3X):c.1588G>T (p.Gly530Cys) SNV other 438759 rs1555954272 GRCh37: X:41205848-41205848
GRCh38: X:41346595-41346595
9 CTNNB1 NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) SNV Likely pathogenic, other 17581 rs28931588 GRCh37: 3:41266097-41266097
GRCh38: 3:41224606-41224606
10 CTNNB1 NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) SNV Likely pathogenic, other 376231 rs121913400 GRCh37: 3:41266101-41266101
GRCh38: 3:41224610-41224610
11 CTNNB1 NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) SNV Likely pathogenic, other 17584 rs28931589 GRCh37: 3:41266104-41266104
GRCh38: 3:41224613-41224613
12 PRKAR1A NM_212472.2(PRKAR1A):c.329C>T (p.Ala110Val) SNV other 438784 rs1194755479 GRCh37: 17:66519048-66519048
GRCh38: 17:68522907-68522907
13 BRCA2 NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) SNV Pathogenic 51129 rs80358435 GRCh37: 13:32893291-32893291
GRCh38: 13:32319154-32319154
14 BRCA2 NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) SNV Pathogenic 52808 rs397508045 GRCh37: 13:32893238-32893238
GRCh38: 13:32319101-32319101
15 BRCA2 NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) SNV Pathogenic 51041 rs80358391 GRCh37: 13:32893246-32893246
GRCh38: 13:32319109-32319109
16 BRCA2 NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) SNV Pathogenic 37819 rs80358557 GRCh37: 13:32911601-32911601
GRCh38: 13:32337464-32337464
17 BRCA2 NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) SNV Pathogenic 37936 rs80358721 GRCh37: 13:32913457-32913457
GRCh38: 13:32339320-32339320
18 BRCA2 NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) SNV Pathogenic 38076 rs80358920 GRCh37: 13:32920978-32920978
GRCh38: 13:32346841-32346841
19 BRCA2 NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) SNV Pathogenic 38215 rs28897756 GRCh37: 13:32954050-32954050
GRCh38: 13:32379913-32379913
20 BRCA2 NM_000059.3(BRCA2):c.1399A>T (p.Lys467Ter) SNV Pathogenic 51118 rs80358427 GRCh37: 13:32907014-32907014
GRCh38: 13:32332877-32332877
21 BRCA2 NM_000059.3(BRCA2):c.5791C>T (p.Gln1931Ter) SNV Pathogenic 51939 rs80358807 GRCh37: 13:32914283-32914283
GRCh38: 13:32340146-32340146
22 BRCA2 NM_000059.4(BRCA2):c.658_659del Deletion Pathogenic 9342 rs80359604 GRCh37: 13:32903605-32903606
GRCh38: 13:32329468-32329469
23 BRCA2 NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) SNV Pathogenic 9346 rs80358785 GRCh37: 13:32914137-32914137
GRCh38: 13:32340000-32340000
24 BRCA2 NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) SNV Pathogenic 38215 rs28897756 GRCh37: 13:32954050-32954050
GRCh38: 13:32379913-32379913
25 BRCA2 NM_000059.3(BRCA2):c.4243G>T (p.Glu1415Ter) SNV Pathogenic 37890 rs397507327 GRCh37: 13:32912735-32912735
GRCh38: 13:32338598-32338598
26 BRCA2 NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) SNV Pathogenic 52149 rs80358893 GRCh37: 13:32915148-32915148
GRCh38: 13:32341011-32341011
27 BRCA2 NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) SNV Pathogenic 52430 rs80359014 GRCh37: 13:32936733-32936733
GRCh38: 13:32362596-32362596
28 BRCA2 NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) SNV Pathogenic 52462 rs80359031 GRCh37: 13:32937327-32937327
GRCh38: 13:32363190-32363190
29 BRCA2 NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) SNV Pathogenic 52515 rs41293511 GRCh37: 13:32937506-32937506
GRCh38: 13:32363369-32363369
30 BRCA2 NM_000059.4(BRCA2):c.8488-1G>A SNV Pathogenic 38164 rs397507404 GRCh37: 13:32945092-32945092
GRCh38: 13:32370955-32370955
31 BRCA2 NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) SNV Pathogenic 38229 rs80359200 GRCh37: 13:32968863-32968863
GRCh38: 13:32394726-32394726
32 BRCA2 NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) SNV Pathogenic 52826 rs80359212 GRCh37: 13:32968951-32968951
GRCh38: 13:32394814-32394814
33 BRCA2 NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) SNV Pathogenic 51952 rs80358814 GRCh37: 13:32914349-32914349
GRCh38: 13:32340212-32340212
34 PTCH2 NM_003738.5(PTCH2):c.1170_1171CT[1] (p.Phe390_Ser391insTer) Microsatellite Pathogenic 6145 rs56126236 GRCh37: 1:45295116-45295117
GRCh38: 1:44829444-44829445
35 BRCA2 NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) SNV Pathogenic 37989 rs41293497 GRCh37: 13:32914174-32914174
GRCh38: 13:32340037-32340037
36 BRCA2 NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) SNV Pathogenic 38099 rs80358972 GRCh37: 13:32930609-32930609
GRCh38: 13:32356472-32356472
37 SUFU NM_016169.3(SUFU):c.1022+1G>A SNV Pathogenic 3571 rs587776578 GRCh37: 10:104359302-104359302
GRCh38: 10:102599545-102599545
38 SUFU NM_016169.4(SUFU):c.1009del (p.His337fs) Deletion Pathogenic 957712 GRCh37: 10:104359286-104359286
GRCh38: 10:102599529-102599529
39 SUFU NM_016169.3(SUFU):c.436C>T (p.Arg146Ter) SNV Pathogenic 406388 rs1060501109 GRCh37: 10:104309845-104309845
GRCh38: 10:102550088-102550088
40 CTNNB1 NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) SNV Pathogenic 265443 rs775104326 GRCh37: 3:41266486-41266486
GRCh38: 3:41224995-41224995
41 SUFU NM_016169.3(SUFU):c.1022+1G>A SNV Pathogenic 3571 rs587776578 GRCh37: 10:104359302-104359302
GRCh38: 10:102599545-102599545
42 SUFU NM_016169.3(SUFU):c.341del (p.Ser114fs) Deletion Pathogenic 406387 rs1060501108 GRCh37: 10:104309750-104309750
GRCh38: 10:102549993-102549993
43 SUFU NM_016169.3(SUFU):c.585_586dup (p.Thr196fs) Duplication Pathogenic 453967 rs1554852279 GRCh37: 10:104352468-104352469
GRCh38: 10:102592711-102592712
44 SUFU NC_000010.11:g.(?_102593630)_(102597299_?)del Deletion Pathogenic 524681 GRCh37: 10:104353387-104357056
GRCh38: 10:102593630-102597299
45 SUFU NM_016169.3(SUFU):c.846dup (p.Glu283fs) Duplication Pathogenic 570890 rs1477199832 GRCh37: 10:104356980-104356981
GRCh38: 10:102597223-102597224
46 SUFU NM_016169.3(SUFU):c.895_896insTGTGT (p.Arg299fs) Insertion Pathogenic 573948 rs1564698850 GRCh37: 10:104357035-104357036
GRCh38: 10:102597278-102597279
47 SUFU SUFU, 2.5-Mb DEL Deletion Pathogenic 3572 GRCh37:
GRCh38:
48 SUFU NM_016169.3(SUFU):c.143dup (p.Pro49fs) Duplication Pathogenic 3570 rs1589970134 GRCh37: 10:104264051-104264052
GRCh38: 10:102504294-102504295
49 SUFU NM_016169.3(SUFU):c.44C>T (p.Pro15Leu) SNV Pathogenic 3569 rs28942088 GRCh37: 10:104263953-104263953
GRCh38: 10:102504196-102504196
50 SUFU NM_016169.3(SUFU):c.71del (p.Pro24fs) Deletion Pathogenic 3573 rs587776579 GRCh37: 10:104263974-104263974
GRCh38: 10:102504217-102504217

UniProtKB/Swiss-Prot genetic disease variations for Medulloblastoma:

72
# 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 (show top 50) (show all 2091)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM144091386 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.65G>A p.R22H 17:7675070-7675070 8
2 COSM142559879 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.701G>A p.R234H 17:7673802-7673802 8
3 COSM143944155 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.367C>T p.R123W 17:7673776-7673776 8
4 COSM87907024 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.799C>T p.R267W 17:7673821-7673821 8
5 COSM144013367 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.710G>A p.R237Q 17:7674220-7674220 8
6 COSM144087106 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.266G>A p.R89Q 17:7674220-7674220 8
7 COSM121885381 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.-18T>A p.? 17:7675233-7675233 8
8 COSM144309944 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.407G>A p.R136H 17:7675088-7675088 8
9 COSM122734738 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.367A>T p.I123F 17:7674200-7674200 8
10 COSM121875983 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.347G>A p.R116Q 17:7674220-7674220 8
11 COSM106053434 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.742C>T p.R248W 17:7674221-7674221 8
12 COSM145024458 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.425G>A p.R142H 17:7675070-7675070 8
13 COSM143944601 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.286A>T p.I96F 17:7674200-7674200 8
14 COSM142837497 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.733G>A p.G245S 17:7674230-7674230 8
15 COSM142842863 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.799C>T p.R267W 17:7673821-7673821 8
16 COSM144087230 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.256G>A p.G86S 17:7674230-7674230 8
17 COSM144097017 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.-101A>G p.? 17:7675235-7675235 8
18 COSM93191517 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.799C>T p.R267W 17:7673821-7673821 8
19 COSM122734399 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.346C>T p.R116W 17:7674221-7674221 8
20 COSM143943546 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.341G>A p.R114H 17:7673802-7673802 8
21 COSM111758883 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.817C>T p.R273C 17:7673803-7673803 8
22 COSM122277714 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.146G>A p.R49H 17:7675070-7675070 8
23 COSM122734176 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.347G>A p.R116Q 17:7674220-7674220 8
24 COSM93184014 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.817C>T p.R273C 17:7673803-7673803 8
25 COSM106052890 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.818G>A p.R273H 17:7673802-7673802 8
26 COSM143377232 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.425G>A p.R142H 17:7675070-7675070 8
27 COSM106053362 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.733G>A p.G245S 17:7674230-7674230 8
28 COSM121885286 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.403C>T p.R135W 17:7673821-7673821 8
29 COSM142560569 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.700C>T p.R234C 17:7673803-7673803 8
30 COSM112253124 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.524G>A p.R175H 17:7675088-7675088 8
31 COSM111758247 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.524G>A p.R175H 17:7675088-7675088 8
32 COSM93183975 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.742C>T p.R248W 17:7674221-7674221 8
33 COSM144310203 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.626G>A p.R209Q 17:7674220-7674220 8
34 COSM106053851 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.763A>T p.I255F 17:7674200-7674200 8
35 COSM87898351 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.743G>A p.R248Q 17:7674220-7674220 8
36 COSM145017657 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.626G>A p.R209Q 17:7674220-7674220 8
37 COSM106060643 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.379T>A p.S127T 17:7675233-7675233 8
38 COSM106053189 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.743G>A p.R248Q 17:7674220-7674220 8
39 COSM143950313 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.322C>T p.R108W 17:7673821-7673821 8
40 COSM87899145 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.763A>T p.I255F 17:7674200-7674200 8
41 COSM144025222 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.344A>G p.Y115C 17:7675235-7675235 8
42 COSM143157352 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.286A>T p.I96F 17:7674200-7674200 8
43 COSM122741220 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.-18T>A p.? 17:7675233-7675233 8
44 COSM87897711 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.818G>A p.R273H 17:7673802-7673802 8
45 COSM93183281 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.818G>A p.R273H 17:7673802-7673802 8
46 COSM122271820 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.346C>T p.R116W 17:7674221-7674221 8
47 COSM122284241 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.-20A>G p.? 17:7675235-7675235 8
48 COSM142560281 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.626G>A p.R209Q 17:7674220-7674220 8
49 COSM145017959 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.700C>T p.R234C 17:7673803-7673803 8
50 COSM144020987 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.346T>A p.S116T 17:7675233-7675233 8

Copy number variations for Medulloblastoma from CNVD:

7 (show top 50) (show all 406)
# CNVD ID Chromosome 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 MYCL 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 translocation 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:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310
2 Hedgehog signaling pathway hsa04340

GO Terms for Medulloblastoma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.76 MIR30D MIR30B MIR20A MIR19A MIR199B MIR18A
2 beta-catenin destruction complex GO:0030877 9.26 CTNNB1 APC
3 extracellular vesicle GO:1903561 9.17 MIR34A MIR30D MIR30B MIR20A MIR19A MIR17
4 Wnt signalosome GO:1990909 8.96 CTNNB1 APC

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.91 SMO MIR34A MIR30B MIR125A CTNNB1 CDKN2B-AS1
2 negative regulation of gene expression GO:0010629 9.8 SMO MIR34A MIR20A MIR17 MIR125A CTNNB1
3 negative regulation of DNA-binding transcription factor activity GO:0043433 9.78 SUFU PTCH1 MIR125A
4 negative regulation of angiogenesis GO:0016525 9.78 MIR34A MIR30B MIR125A CTNNB1
5 pattern specification process GO:0007389 9.74 SMO PTCH1 APC
6 skin development GO:0043588 9.73 SUFU PTCH2 CTNNB1
7 embryonic organ development GO:0048568 9.71 SMO PTCH1 CTNNB1
8 dorsal/ventral pattern formation GO:0009953 9.7 SMO PTCH1 CTNNB1
9 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.69 MIR20A MIR19A MIR199B
10 cell fate specification GO:0001708 9.67 SMO CTNNB1 APC
11 positive regulation of cardiac muscle cell apoptotic process GO:0010666 9.64 MIR34A MIR17
12 somite development GO:0061053 9.64 SMO PTCH1
13 negative regulation of toll-like receptor signaling pathway GO:0034122 9.63 MIR19A MIR17
14 negative regulation of matrix metallopeptidase secretion GO:1904465 9.63 MIR19A MIR199B
15 commissural neuron axon guidance GO:0071679 9.62 SMO PTCH1
16 mammary gland epithelial cell differentiation GO:0060644 9.62 SMO PTCH1
17 smoothened signaling pathway GO:0007224 9.62 SUFU SMO PTCH2 PTCH1
18 dorsal/ventral neural tube patterning GO:0021904 9.61 SMO PTCH1
19 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.6 MIR20A MIR17
20 smooth muscle tissue development GO:0048745 9.59 SMO PTCH1
21 positive regulation of B cell receptor signaling pathway GO:0050861 9.58 MIR19A MIR18A
22 positive regulation of epidermal cell differentiation GO:0045606 9.58 PTCH2 PTCH1
23 negative regulation of smoothened signaling pathway GO:0045879 9.58 SUFU PTCH2 PTCH1
24 positive regulation of pulmonary blood vessel remodeling GO:1905111 9.55 MIR20A MIR17
25 negative regulation of sprouting angiogenesis GO:1903671 9.55 MIR34A MIR20A MIR19A MIR18A MIR17
26 cell fate determination GO:0001709 9.54 PTCH2 PTCH1 CTNNB1
27 epidermal cell fate specification GO:0009957 9.46 PTCH2 PTCH1
28 negative regulation of vascular endothelial growth factor production GO:1904046 9.35 MIR34A MIR20A MIR199B MIR17 MIR125A
29 gene silencing by miRNA GO:0035195 9.32 MIR34A MIR326 MIR30D MIR30B MIR20A MIR19A

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

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR binding GO:0003730 9.62 MIR34A MIR20A MIR17 MIR125A
2 beta-catenin binding GO:0008013 9.58 SUFU CTNNB1 APC
3 patched binding GO:0005113 9.37 SMO PTCH1
4 hedgehog family protein binding GO:0097108 9.26 PTCH2 PTCH1
5 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.23 MIR34A MIR30B MIR20A MIR19A MIR199B MIR18A
6 hedgehog receptor activity GO:0008158 9.16 PTCH2 PTCH1
7 smoothened binding GO:0005119 8.96 PTCH2 PTCH1

Sources for Medulloblastoma

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