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MCID: MDL005
MIFTS: 75

Medulloblastoma

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cancer diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Medulloblastoma

About this section

MalaCards integrated aliases for Medulloblastoma:

Name: Medulloblastoma 57 12 76 53 59 75 37 29 13 55 6 44 15 40 73
Mdb 57 53 75
Localized Primitive Neuroectodermal Tumor 12 73
Medulloblastoma with Extensive Nodularity 59 6
Medulloblastoma, Desmoplastic 57 6
Classic Medulloblastoma 59 73
Cpnet 12 73
Infratentorial Primitive Neuroectodermal Tumor 12
Medulloblastoma, with Extensive Nodularity 73
Desmoplastic/nodular Medulloblastoma 59
Neuroectodermal Tumors, Primitive 44
Medulloblastoma Desmoplastic 55
Desmoplastic Medulloblastoma 73
Medulloblastoma, Somatic 57
Brain Medulloblastoma 12
Cns Pnet 12
Mben 59

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant
somatic

Miscellaneous:
incomplete penetrance


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases


Sources

Summaries for Medulloblastoma

About this section
NIH Rare Diseases : 53 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 basal cell nevus syndrome and basal cell carcinoma, and has symptoms including headache, vomiting and gait ataxia. An important gene associated with Medulloblastoma is SUFU (SUFU Negative Regulator Of Hedgehog Signaling), and among its related pathways/superpathways are Wnt signaling pathway and Hedgehog signaling pathway. The drugs Carboplatin and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include the lower part of the brain, brain and cerebellum, and related phenotypes are medulloblastoma and delayed cranial suture closure

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

UniProtKB/Swiss-Prot : 75 Medulloblastoma: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

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

Wikipedia : 76 Medulloblastoma (/məˌdʌloʊblæˈstoʊmə/) is the most common type of pediatric malignant primary brain... more...

Sources

Related Diseases for Medulloblastoma

About this section

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 256)
# Related Disease Score Top Affiliating Genes
1 basal cell nevus syndrome 34.3 PTCH2 SMO SUFU
2 basal cell carcinoma 32.6 CTNNB1 PTCH2 SMO SUFU TP53
3 glioblastoma 31.7 BRCA2 FGFR1 H19 MIR326 MIR34A NRAS
4 pilocytic astrocytoma 31.7 FGFR1 PIK3CA TP53
5 brain cancer 31.6 BRCA2 CTNNB1 NRAS PIK3CA TP53
6 adenocarcinoma 31.6 APC CTNNB1 FGFR1 H19 PIK3CA TP53
7 colorectal adenoma 31.5 APC CTNNB1 TP53
8 familial adenomatous polyposis 31.3 APC CTNNB1 TP53
9 neuroblastoma 30.2 CTNNB1 FGFR1 H19 MIR125A MIR34A NRAS
10 muscular dystrophy, duchenne type 30.0 MIR30B MIR30D MIR34A
11 glioma 29.1 BRCA2 FGFR1 H19 MIR17 MIR19A MIR20A
12 breast cancer 28.2 APC BRCA2 CTNNB1 FGFR1 H19 MIR125A
13 large cell medulloblastoma 12.3
14 childhood medulloblastoma 12.2
15 adult medulloblastoma 12.1
16 cerebellar medulloblastoma 12.1
17 melanotic medulloblastoma 12.1
18 nodular medulloblastoma 12.1
19 cerebellar vermis medulloblastoma 12.0
20 brain stem medulloblastoma 11.9
21 anaplastic/large cell medulloblastoma 11.8
22 peutz-jeghers syndrome 11.6 APC BRCA2 CTNNB1 TP53
23 female reproductive organ cancer 11.6 BRCA2 CTNNB1 PIK3CA TP53
24 adult hepatocellular carcinoma 11.6 CTNNB1 PIK3CA TP53
25 anal squamous cell carcinoma 11.6 APC PIK3CA TP53
26 bladder urothelial carcinoma 11.6 CTNNB1 FGFR1 NRAS PIK3CA TP53
27 pancreas adenocarcinoma 11.5 BRCA2 CTNNB1 PIK3CA TP53
28 lynch syndrome 11.5 APC BRCA2 CTNNB1 TP53
29 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.5 CTNNB1 PIK3CA TP53
30 keratocystic odontogenic tumor 11.5 SMO SUFU TP53
31 infratentorial cancer 11.5 CTNNB1 SUFU TP53
32 acinar cell carcinoma 11.5 BRCA2 CTNNB1 TP53
33 intestinal benign neoplasm 11.5 APC CTNNB1 TP53
34 skin melanoma 11.5 CTNNB1 NRAS PIK3CA TP53
35 brain stem glioma 11.5 FGFR1 PIK3CA TP53
36 mismatch repair cancer syndrome 11.5
37 ovarian cancer 1 11.5 BRCA2 PIK3CA TP53
38 malignant ovarian surface epithelial-stromal neoplasm 11.5 BRCA2 PIK3CA TP53
39 ovary epithelial cancer 11.5 BRCA2 PIK3CA TP53
40 suppression of tumorigenicity 12 11.5 CTNNB1 PIK3CA TP53
41 breast carcinoma in situ 11.5 BRCA2 FGFR1 TP53
42 desmoid disease, hereditary 11.5 APC CTNNB1
43 respiratory system cancer 11.4 CTNNB1 PIK3CA TP53
44 rare adenocarcinoma of the breast 11.4 PIK3CA TP53
45 prostate transitional cell carcinoma 11.4 CTNNB1 PIK3CA
46 ovarian serous cystadenocarcinoma 11.4 NRAS PIK3CA TP53
47 basal cell carcinoma, multiple 11.4 PTCH2 SMO
48 renal cell carcinoma, papillary, 1 11.4 NRAS PIK3CA TP53
49 adamantinoma of long bones 11.4 APC BRCA2 CTNNB1 FGFR1 H19 PIK3CA
50 uterine carcinosarcoma 11.4 CTNNB1 PIK3CA TP53

Graphical network of the top 20 diseases related to Medulloblastoma:



Diseases related to Medulloblastoma
Sources

Symptoms & Phenotypes for Medulloblastoma

About this section

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
medulloblastoma

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


Clinical features from OMIM:

155255

Human phenotypes related to Medulloblastoma:

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

UMLS symptoms related to Medulloblastoma:


headache, vomiting, gait ataxia, cerebellar ataxia/dyskinesia

MGI Mouse Phenotypes related to Medulloblastoma:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.13 APC BRCA2 CTNNB1 FGFR1 NRAS PTCH2
2 embryo MP:0005380 10.11 APC BRCA2 CTNNB1 FGFR1 NRAS PIK3CA
3 integument MP:0010771 10.09 NRAS PIK3CA PTCH2 SUFU TP53 APC
4 craniofacial MP:0005382 10.04 SUFU TP53 APC CTNNB1 FGFR1 NRAS
5 limbs/digits/tail MP:0005371 10.01 APC BRCA2 CTNNB1 FGFR1 NRAS SMO
6 neoplasm MP:0002006 9.97 BRCA2 CTNNB1 NRAS PIK3CA PTCH2 SUFU
7 normal MP:0002873 9.91 APC BRCA2 CTNNB1 FGFR1 NRAS PTCH2
8 no phenotypic analysis MP:0003012 9.87 APC CTNNB1 FGFR1 NRAS PIK3CA SUFU
9 skeleton MP:0005390 9.61 APC BRCA2 CTNNB1 FGFR1 NRAS PIK3CA
10 pigmentation MP:0001186 9.55 APC CTNNB1 NRAS SUFU TP53
11 vision/eye MP:0005391 9.23 APC CTNNB1 FGFR1 NRAS PIK3CA SMO
Sources

Drugs & Therapeutics for Medulloblastoma

About this section

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

(show top 50) (show all 298)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 41575-94-4 10339178 498142 38904
2
Cisplatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15663-27-1 84093 441203 2767
3
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 50-18-0, 6055-19-2 2907
4
Etoposide Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 33419-42-0 36462
5
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
6
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1959-05-2, 59-05-2 126941
7
Thiotepa Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 52-24-4 5453
8
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2068-78-2, 57-22-7 5978
9
Mesna Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 3375-50-6 598
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 59-30-3 6037
11
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 58-05-9 143 6006
12 Alkylating Agents 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 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
15 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Antineoplastic Agents, Phytogenic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
19 Dermatologic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
20 Etoposide phosphate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
21 Folic Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
22 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
23 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
24 Topoisomerase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
25 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
26 Folate Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
27 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
28
Lomustine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 13010-47-4 3950
29
Dacarbazine Approved, Investigational Phase 2, Phase 3,Phase 1 4342-03-4 5351166
30
Temozolomide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 85622-93-1 5394
31
Melphalan Approved Phase 2, Phase 3,Phase 1,Not Applicable 148-82-3 4053 460612
32
Levoleucovorin Approved, Investigational Phase 3,Phase 2,Early Phase 1 68538-85-2
33
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
34
Donepezil Approved Phase 3,Phase 2,Early Phase 1 120014-06-4 3152
35
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 50-02-2 5743
36
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
37
Ondansetron Approved Phase 3 99614-02-5 4595
38
Isotretinoin Approved Phase 3,Phase 2,Phase 1,Not Applicable 4759-48-2 5538 5282379
39
Cyproheptadine Approved Phase 3,Phase 2 129-03-3 2913
40
Histamine Approved, Investigational Phase 3,Phase 2 75614-87-8, 51-45-6 774
41
Metformin Approved Phase 3 657-24-9 14219 4091
42 Trofosfamide Investigational Phase 2, Phase 3 22089-22-1
43 Pancreatic Polypeptide Investigational Phase 3,Phase 1 59763-91-6
44 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1,Not Applicable
45 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
46 Liver Extracts Phase 3,Phase 2,Phase 1
47 Antidotes Phase 3,Phase 2,Phase 1
48 Calcium, Dietary Phase 3,Phase 2,Phase 1
49 Micronutrients Phase 3,Phase 2,Phase 1
50 Trace Elements Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 253)
# 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 Therapy Optimization Trial for the Treatment of Relapsed or Refractory Brain Tumors in Children Unknown status NCT00749723 Phase 2, Phase 3 carboplatin;etoposide;temozolomide;thiotepa, carboplatin, etoposide;temozolomide, thiotepa;etoposide;trofosfamide/etoposide
4 Stem Cell Transplant for High Risk Central Nervous System (CNS) Tumors Unknown status NCT00179803 Phase 2, 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 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
7 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
8 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
9 Radiation Therapy Plus Combination Chemotherapy in Treating Children With Medulloblastoma Completed NCT00002875 Phase 3 cisplatin;cyclophosphamide;lomustine;mesna;vincristine sulfate
10 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
11 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
12 Donepezil in Treating Patients Who Have Undergone Radiation Therapy for Brain Tumors Completed NCT00369785 Phase 3 donepezil hydrochloride;Placebo
13 Acupressure in Controlling Nausea in Young Patients Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
14 International Society of Paediatric Oncology (SIOP) PNET 5 Medulloblastoma Recruiting NCT02066220 Phase 2, Phase 3 Reduced-intensity maintenance chemotherapy;Maintenance chemotherapy
15 Chemotherapy and Radiation Therapy in Treating Young Patients With Newly Diagnosed, Previously Untreated, High-Risk Medulloblastoma Recruiting NCT00392327 Phase 3 Vincristine Sulfate;Carboplatin;Cisplatin;Cyclophosphamide;Isotretinoin
16 Hyperfractionated Versus Conventionally Fractionated Radiotherapy in Standard Risk Medulloblastoma Active, not recruiting NCT01351870 Phase 3
17 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
18 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
19 Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer Active, not recruiting NCT01987596 Phase 3
20 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
21 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
22 High Risk Primitive Neuroectodermal (PNET) Brain Tumors in Childhood Unknown status NCT00180791 Phase 2 Etoposide, carboplatin, melphalan, cisplatin, thiotepa
23 Study of Vinorelbine and Cyclofosfamide Among Patients With Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
24 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
25 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
26 Combination Chemotherapy With or Without Radiation Therapy in Treating Children With Brain Tumors Unknown status NCT00281905 Phase 2 carboplatin;cisplatin;cyclophosphamide;methotrexate;vincristine sulfate
27 A Phase II Study of Oral LDE225 in Patients With Hedge-Hog (Hh)-Pathway Activated Relapsed Medulloblastoma (MB) Completed NCT01708174 Phase 2 LDE225;TMZ
28 Combination Chemotherapy in Treating Younger Patients With Newly Diagnosed, Non-Metastatic Desmoplastic Medulloblastoma Completed NCT02017964 Phase 2 Vincristine Sulfate;Cyclophosphamide;Methotrexate;Etoposide;Carboplatin
29 Vismodegib in Treating Patients With Recurrent or Refractory Medulloblastoma Completed NCT00939484 Phase 2 Vismodegib
30 Vismodegib in Treating Younger Patients With Recurrent or Refractory Medulloblastoma Completed NCT01239316 Phase 2 Vismodegib
31 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
32 Concurrent Carboplatin and Reduced Dose Craniospinal Radiation for Medulloblastoma and Primitive Neuroectodermal Tumor (PNET) Completed NCT01542736 Phase 2 Carboplatin;Vincristine
33 Oxaliplatin in Treating Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Completed NCT00047177 Phase 2 Oxaliplatin
34 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
35 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
36 Combination Chemotherapy Followed by Bone Marrow and/or Peripheral Stem Cell Transplantation in Treating Patients With Recurrent Medulloblastoma or CNS Germ Cell Tumors Completed NCT00002594 Phase 2 cyclophosphamide;melphalan
37 Tipifarnib in Treating Young Patients With Recurrent or Progressive High-Grade Glioma, Medulloblastoma, Primitive Neuroectodermal Tumor, or Brain Stem Glioma Completed NCT00070525 Phase 2 tipifarnib
38 Combination of Irinotecan and Temozolomide in Children With Brain Tumors. Completed NCT00404495 Phase 2 Irinotecan;Temozolomide
39 Combination Chemotherapy Followed by Radiation Therapy in Treating Patients With Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Ependymoma Completed NCT00006258 Phase 2 cisplatin;cyclophosphamide;etoposide;methotrexate;vincristine sulfate
40 A Phase I Dose Finding and Safety Study of Oral LDE225 in Children and a Phase II Portion to Assess Preliminary Efficacy in Recurrent or Refractory MB Completed NCT01125800 Phase 1, Phase 2 LDE225
41 Combination Chemotherapy, Surgery or Radiation Therapy, and Peripheral Stem Cell Transplant in Treating Patients With Recurrent Medulloblastoma or Primitive Neuroectodermal and Pineal Tumors Completed NCT00025077 Phase 2 carboplatin;cyclophosphamide;thiotepa
42 Combination Chemotherapy Plus Radiation Therapy in Treating Adult Patients With Brain Cancer Completed NCT00003309 Phase 2 cisplatin;cyclophosphamide;etoposide;vincristine sulfate
43 Lapatinib in Treating Young Patients With Recurrent or Refractory Central Nervous System Tumors Completed NCT00095940 Phase 1, Phase 2 lapatinib ditosylate
44 A Study of Pemetrexed in Children With Recurrent Cancer Completed NCT00520936 Phase 2 pemetrexed
45 Clinical Studies of Gemcitabine-Oxaliplatin Completed NCT00407433 Phase 2 Gemcitabine (Gemzar®), Oxaliplatin (Eloxatin®)
46 Rebeccamycin Analogue in Treating Children With Solid Tumors or Non-Hodgkin's Lymphoma Completed NCT00006102 Phase 2 becatecarin
47 Phenylbutyrate to Treat Children With Progressive or Recurrent Brain Tumors Completed NCT00006450 Phase 2 Phenylbutyrate
48 Irinotecan in Treating Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
49 Topotecan Hydrochloride in Treating Children With Meningeal Cancer That Has Not Responded to Previous Treatment Completed NCT00005811 Phase 2 topotecan hydrochloride
50 Carboplatin and Vincristine Plus Radiation Therapy Followed By Adjuvant Chemotherapy in Treating Young Patients With Newly Diagnosed CNS Embryonal Tumors Completed NCT00003203 Phase 2 carboplatin;cisplatin;cyclophosphamide;vincristine sulfate

Search NIH Clinical Center for Medulloblastoma

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: medulloblastoma

Sources

Genetic Tests for Medulloblastoma

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Genetic tests related to Medulloblastoma:

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

Anatomical Context for Medulloblastoma

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

19
The Lower Part Of The Brain

MalaCards organs/tissues related to Medulloblastoma:

41
Brain, Cerebellum, Bone, Bone Marrow, Liver, Lung, Myeloid
Sources

Publications for Medulloblastoma

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Articles related to Medulloblastoma:

(show top 50) (show all 1780)
# Title Authors Year
1
Posterior fossa medulloblastoma in an atypical extra-axial location: A case report. ( 29904474 )
2018
2
Prognostic value of Ki-67 index in adult medulloblastoma after accounting for molecular subgroup: a retrospective clinical and molecular analysis. ( 29687281 )
2018
3
Pearls &amp;amp; Oy-sters: Positional vertigo and vertical nystagmus in medulloblastoma: A picture is worth a thousand words. ( 29358519 )
2018
4
Neuropsychological consequences of childhood medulloblastoma and possible interventions: A review. ( 29716738 )
2018
5
Survival Following Tumor Recurrence in Children With Medulloblastoma. ( 29432312 )
2018
6
An oncolytic measles virus-sensitive Group 3 medulloblastoma model in immune-competent mice. ( 29912438 )
2018
7
Radiotherapy for Adult Medulloblastoma: Evaluation of Helical Tomotherapy, Volumetric Intensity Modulated Arc Therapy, and Three-Dimensional Conformal Radiotherapy and the Results of Helical Tomotherapy Therapy. ( 29750173 )
2018
8
Basal Suppression of the Sonic Hedgehog Pathway by the G-Protein-Coupled Receptor Gpr161 Restricts Medulloblastoma Pathogenesis. ( 29386106 )
2018
9
Adult hemispheric cerebellar medulloblastoma. ( 29527392 )
2018
10
Study on Contribution of Biological Interpretable and Computer-Aided Features Towards the Classification of Childhood Medulloblastoma Cells. ( 29974336 )
2018
11
Medulloblastoma: A turning point from fundamental advances to improved survival and decreased sequelae. ( 29448992 )
2018
12
Childhood Lhermitte-Duclos disease progressing to medulloblastoma in bilateral cerebellar hemispheres: report of an unusual case. ( 29966776 )
2018
13
Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a. ( 29167993 )
2018
14
Survival Impact of Postoperative Radiotherapy Timing in Pediatric and Adolescent Medulloblastoma. ( 29309676 )
2018
15
Thyroid dysfunction in patients with childhood-onset medulloblastoma or primitive neuroectodermal tumor. ( 29969880 )
2018
16
Pre-treatment lymphopenia and indication of tumor-induced systemic immunosuppression in medulloblastoma. ( 29143922 )
2018
17
Poliovirus Receptor (CD155) Expression in Pediatric Brain Tumors Mediates Oncolysis of Medulloblastoma and Pleomorphic Xanthoastrocytoma. ( 29878245 )
2018
18
Medulloblastoma in association with sacral agenesis; a case report. ( 29404676 )
2018
19
Medulloblastoma: A turning point from fundamental advances to improved survival and decreased sequelae. ( 29433819 )
2018
20
Long-term outcomes of adult medulloblastoma patients treated with radiotherapy. ( 29019042 )
2018
21
Cerebellar Medulloblastoma in Middle-to-Late Adulthood. ( 29651356 )
2018
22
Pediatric Cerebello-Pontine Angle Medulloblastoma: A Management Review. ( 29899792 )
2018
23
Ovulation induction and oocyte retrieval for fertility preservation in young adolescents newly diagnosed with medulloblastoma: a case series. ( 29390921 )
2018
24
TGF-I^ Determines the Pro-migratory Potential of bFGF Signaling in Medulloblastoma. ( 29949765 )
2018
25
Glutamine metabolism, the Achilles heel for medulloblastoma tumor. ( 29358733 )
2018
26
Characterization of a novel OTX2-driven stem cell program in Group 3 and Group 4 medulloblastoma. ( 29377567 )
2018
27
MRI features as a helpful tool to predict the molecular subgroups of medulloblastoma: state of the art. ( 29977341 )
2018
28
CD271+ cells are diagnostic and prognostic and exhibit elevated MAPK activity in SHH medulloblastoma. ( 29930101 )
2018
29
Clinical Characteristics and Outcome of Children With Relapsed Medulloblastoma: A Retrospective Study at a Single Center in China. ( 29927794 )
2018
30
Targeting mTOR as a Therapeutic Approach in Medulloblastoma. ( 29932116 )
2018
31
Treatment outcome and prognostic factors for adult patients with medulloblastoma: The Rare Cancer Network (RCN) experience. ( 29373196 )
2018
32
A Rare Extra-Axial Midline Tentorial Adult Medulloblastoma with Dural-Tail Sign Mimicking a Meningioma. ( 29682065 )
2018
33
Ototoxicity and cochlear sparing in children with medulloblastoma: Proton vs. photon radiotherapy. ( 29373195 )
2018
34
Statins Synergize with Hedgehog Pathway Inhibitors for Treatment of Medulloblastoma. ( 29437795 )
2018
35
A 15-Year-Old Girl With Sudden Onsent Reversible Neurologic Symptoms After Cranial Irradiation for Medulloblastoma. ( 29961502 )
2018
36
SNCA, a novel biomarker for Group 4 medulloblastomas, can inhibit tumor invasion and induce apoptosis. ( 29369502 )
2018
37
Medulloblastoma with transitional features between Group 3 and Group 4 is associated with good prognosis. ( 29427151 )
2018
38
BAI1 Stabilizes p53 to Suppress Medulloblastoma Tumorigenesis. ( 29907588 )
2018
39
National cancer registry and broad institutional cooperation: turning points in treating childhood medulloblastoma in Iran. ( 29804211 )
2018
40
Outcome of newly diagnosed high risk medulloblastoma treated with carboplatin, vincristine, cyclophosphamide and etoposide. ( 29960842 )
2018
41
Cynanbungeigenin C and D, a pair of novel epimers from Cynanchum bungei, suppress hedgehog pathway-dependent medulloblastoma by blocking signaling at the level of Gli. ( 29425683 )
2018
42
Ginsenoside Rh2 inhibits proliferation and migration of medulloblastoma Daoy by down-regulation of microRNA-31. ( 29377269 )
2018
43
Quality of life in patients with proton-treated pediatric medulloblastoma: Results of a prospective assessment with 5-year follow-up. ( 29905942 )
2018
44
Inactivation of citron kinase inhibits medulloblastoma progression by inducing apoptosis and cell senescence. ( 29921697 )
2018
45
Medulloblastoma with myogenic and/or melanotic differentiation does not align immunohistochemically with the genetically defined molecular subgroups. ( 29412177 )
2018
46
Publisher Correction: Investigation of brain tissue infiltration by medulloblastoma cells in an ex vivo model. ( 29930283 )
2018
47
Itch/I^-arrestin2-dependent non-proteolytic ubiquitylation of SuFu controls Hedgehog signalling and medulloblastoma tumorigenesis. ( 29515120 )
2018
48
Disruption of the ciliary GTPase Arl13b suppresses Sonic hedgehog overactivation and inhibits medulloblastoma formation. ( 29378965 )
2018
49
Study Reveals Germline Genetics of Medulloblastoma. ( 29934315 )
2018
50
Subfrontal recurrence after cerebellar medulloblastoma resection without local relapse: case-based update. ( 29934705 )
2018
Sources

Variations for Medulloblastoma

About this section

UniProtKB/Swiss-Prot genetic disease variations for Medulloblastoma:

75
# Symbol AA change Variation ID SNP ID
1 APC p.Ala1296Val VAR_017653
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 549)
# Gene Variation Type Significance SNP ID Assembly Location
1 SUFU NM_016169.3(SUFU): c.44C> T (p.Pro15Leu) single nucleotide variant Pathogenic rs28942088 GRCh37 Chromosome 10, 104263953: 104263953
2 SUFU NM_016169.3(SUFU): c.44C> T (p.Pro15Leu) single nucleotide variant Pathogenic rs28942088 GRCh38 Chromosome 10, 102504196: 102504196
3 SUFU SUFU, 1-BP INS, 143A insertion Pathogenic
4 SUFU NM_016169.3(SUFU): c.1022+1G> A single nucleotide variant Pathogenic rs587776578 GRCh37 Chromosome 10, 104359302: 104359302
5 SUFU NM_016169.3(SUFU): c.1022+1G> A single nucleotide variant Pathogenic rs587776578 GRCh38 Chromosome 10, 102599545: 102599545
6 SUFU SUFU, 2.5-Mb DEL deletion Pathogenic
7 SUFU NM_016169.3(SUFU): c.71delC (p.Pro24Argfs) deletion Pathogenic rs587776579 GRCh37 Chromosome 10, 104263980: 104263980
8 SUFU NM_016169.3(SUFU): c.71delC (p.Pro24Argfs) deletion Pathogenic rs587776579 GRCh38 Chromosome 10, 102504223: 102504223
9 SUFU SUFU, 1-BP INS, 71C insertion Pathogenic
10 PTCH2 NM_001166292.1(PTCH2): c.1172_1173delCT (p.Ser391Terfs) deletion Likely pathogenic rs56126236 GRCh37 Chromosome 1, 45295116: 45295117
11 PTCH2 NM_001166292.1(PTCH2): c.1172_1173delCT (p.Ser391Terfs) deletion Likely pathogenic rs56126236 GRCh38 Chromosome 1, 44829444: 44829445
12 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
13 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh38 Chromosome 13, 32329469: 32329470
14 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
15 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh38 Chromosome 13, 32340000: 32340000
16 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
17 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh38 Chromosome 17, 7674221: 7674221
18 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
19 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
20 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Likely pathogenic rs121912657 GRCh37 Chromosome 17, 7577124: 7577124
21 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Likely pathogenic rs121912657 GRCh38 Chromosome 17, 7673806: 7673806
22 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
23 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh38 Chromosome 17, 7673802: 7673802
24 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
25 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
26 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
27 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
28 PIK3CA NM_006218.3(PIK3CA): c.1636C> G (p.Gln546Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
29 PIK3CA NM_006218.3(PIK3CA): c.1636C> G (p.Gln546Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh38 Chromosome 3, 179218306: 179218306
30 PIK3CA NM_006218.3(PIK3CA): c.1636C> A (p.Gln546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
31 PIK3CA NM_006218.3(PIK3CA): c.1636C> A (p.Gln546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh38 Chromosome 3, 179218306: 179218306
32 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh37 Chromosome 1, 115258745: 115258745
33 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh38 Chromosome 1, 114716124: 114716124
34 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 GRCh37 Chromosome 1, 115258744: 115258744
35 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 GRCh38 Chromosome 1, 114716123: 114716123
36 CTNNB1 NM_001904.3(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
37 CTNNB1 NM_001904.3(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh38 Chromosome 3, 41224610: 41224610
38 CTNNB1 NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913396 GRCh37 Chromosome 3, 41266098: 41266098
39 CTNNB1 NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913396 GRCh38 Chromosome 3, 41224607: 41224607
40 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
41 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh38 Chromosome 3, 41224622: 41224622
42 CTNNB1 NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28931588 GRCh37 Chromosome 3, 41266097: 41266097
43 CTNNB1 NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28931588 GRCh38 Chromosome 3, 41224606: 41224606
44 CTNNB1 NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
45 CTNNB1 NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh38 Chromosome 3, 41224610: 41224610
46 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh37 Chromosome 3, 41266104: 41266104
47 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh38 Chromosome 3, 41224613: 41224613
48 CTNNB1 NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
49 CTNNB1 NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh38 Chromosome 3, 41224622: 41224622
50 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh37 Chromosome 13, 32914174: 32914174

Cosmic variations for Medulloblastoma:

9
(show top 50) (show all 75)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM1371 SUFU central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.1022+1G>A p.? 10:102599545-102599545 30
2 COSM14464 PTCH1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.1804C>T p.R602* 9:95469856-95469856 30
3 COSM585 NRAS central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.183A>T p.Q61H 1:114713907-114713907 30
4 COSM5664 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.121A>G p.T41A 3:41224633-41224633 30
5 COSM13144 SMO central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.1598G>A p.S533N 7:129210494-129210494 29
6 COSM5679 CTNNB1 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.110C>G p.S37C 3:41224622-41224622 29
7 COSM10659 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.817C>T p.R273C 17:7673803-7673803 27
8 COSM10662 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.743G>A p.R248Q 17:7674220-7674220 27
9 COSM11183 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.799C>T p.R267W 17:7673821-7673821 27
10 COSM10656 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.742C>T p.R248W 17:7674221-7674221 27
11 COSM10648 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.524G>A p.R175H 17:7675088-7675088 27
12 COSM10704 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.844C>T p.R282W 17:7673776-7673776 27
13 COSM11517 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.377A>G p.Y126C 17:7675235-7675235 27
14 COSM6932 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.733G>A p.G245S 17:7674230-7674230 27
15 COSM17438 PTCH1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.2503G>T p.E835* 9:95467173-95467173 27
16 COSM580 NRAS central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.181C>A p.Q61K 1:114713909-114713909 27
17 COSM5673 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>A p.S33Y 3:41224610-41224610 27
18 COSM5677 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>G p.S33C 3:41224610-41224610 27
19 COSM5669 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>T p.S33F 3:41224610-41224610 27
20 COSM5682 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.97T>C p.S33P 3:41224609-41224609 27
21 COSM5672 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.94G>A p.D32N 3:41224606-41224606 27
22 COSM5670 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.101G>T p.G34V 3:41224613-41224613 27
23 COSM5675 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.109T>G p.S37A 3:41224621-41224621 27
24 COSM5686 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.100G>A p.G34R 3:41224612-41224612 27
25 COSM5671 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.101G>A p.G34E 3:41224613-41224613 27
26 COSM5691 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.95A>T p.D32V 3:41224607-41224607 27
27 COSM5661 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.94G>T p.D32Y 3:41224606-41224606 27
28 COSM5690 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.95A>C p.D32A 3:41224607-41224607 27
29 COSM5666 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.110C>A p.S37Y 3:41224622-41224622 27
30 COSM5687 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.109T>C p.S37P 3:41224621-41224621 27
31 COSM5667 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.134C>T p.S45F 3:41224646-41224646 27
32 COSM5718 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.149G>A p.G50D 3:41224661-41224661 27
33 COSM5662 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.110C>T p.S37F 3:41224622-41224622 27
34 COSM4972316 AXIN2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.2087A>G p.Q696R 17:65536374-65536374 27
35 COSM43651 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.763A>T p.I255F 17:7674200-7674200 26
36 COSM10738 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.542G>A p.R181H 17:7675070-7675070 26
37 COSM53285 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.379T>A p.S127T 17:7675233-7675233 26
38 COSM10660 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.818G>A p.R273H 17:7673802-7673802 26
39 COSM5991649 CXCR4 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,classic c.301G>A p.D101N 2:136115639-136115639 26
40 COSM133744 AXIN1 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,classic c.652C>T p.P218S 16:346374-346374 26
41 COSM96955 SUFU central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,large cell c.1084C>T p.R362C 10:102615329-102615329 25
42 COSM3727816 TP53 central nervous system,cerebellum,glioma,anaplastic c.562C>A p.L188M 17:7674969-7674969 7
43 COSM10911 TP53 central nervous system,brain,glioma,ependymoma Grade III-IV c.847C>T p.R283C 17:7673773-7673773 7
44 COSM3727817 TP53 central nervous system,cerebellum,glioma,anaplastic c.1118A>G p.K373R 17:7669673-7669673 7
45 COSM989 SMARCB1 central nervous system,brain,glioma,ependymoma Grade III-IV c.1130G>A p.R377H 22:23834152-23834152 7
46 COSM6289136 SMARCA4 central nervous system,brain,glioma,ependymoma Grade III-IV c.2143G>A p.D715N 19:11010400-11010400 7
47 COSM6958006 RB1 central nervous system,brain,glioma,ependymoma Grade III-IV c.380+2T>C p.? 13:48342716-48342716 7
48 COSM4749148 PTPRS central nervous system,brain,glioma,ependymoma Grade III-IV c.2600G>A p.R867H 19:5223192-5223192 7
49 COSM5149 PTEN central nervous system,brain,glioma,ependymoma Grade III-IV c.511C>T p.Q171* 10:87952136-87952136 7
50 COSM6968454 PIK3R3 central nervous system,brain,glioma,ependymoma Grade III-IV c.1320C>A p.H440Q 1:46043739-46043739 7

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
Sources

Expression for Medulloblastoma

About this section
Search GEO for disease gene expression data for Medulloblastoma.
Sources

Pathways for Medulloblastoma

About this section

Pathways related to Medulloblastoma according to KEGG:

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

Pathways related to Medulloblastoma according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 37
Show member pathways
 12.9 APC CTNNB1 FGFR1 NRAS PIK3CA TP53
2
Endometrial cancer 37
Show member pathways
 12.72 APC BRCA2 CTNNB1 FGFR1 NRAS PIK3CA
3
Glioma 37
Show member pathways
 12.69 BRCA2 FGFR1 NRAS PIK3CA TP53
4
Development HGF signaling pathway 22
Show member pathways
 12.64 APC CTNNB1 NRAS PIK3CA TP53
5
Gastric cancer 37
Show member pathways
 12.58 APC BRCA2 CTNNB1 FGFR1 NRAS PIK3CA
6
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.44 APC FGFR1 NRAS PIK3CA TP53
7
Pathways in cancer 37
12.38 APC BRCA2 CTNNB1 FGFR1 NRAS PIK3CA
8
Apoptosis Pathway 72
Show member pathways
 12.34 CTNNB1 FGFR1 NRAS PIK3CA TP53
9
HTLV-I infection 37
12.31 APC CTNNB1 NRAS PIK3CA TP53
10
DNA Damage Response 1
Show member pathways
 12.26 MIR17 MIR18A MIR19A MIR20A TP53
11
Wnt / Hedgehog / Notch 4
12.17 APC CTNNB1 PTCH2 SUFU
12
AKT Signaling Pathway 67
12.07 FGFR1 NRAS PIK3CA TP53
13
Proteoglycans in cancer 37
12.04 CTNNB1 FGFR1 NRAS PIK3CA SMO TP53
14
Signaling pathways regulating pluripotency of stem cells 37
11.94 APC CTNNB1 FGFR1 NRAS PIK3CA
15
Thyroid hormone signaling pathway 37
11.92 CTNNB1 NRAS PIK3CA TP53
16
MicroRNAs in cancer 37
11.91 APC MIR125A MIR17 MIR18A MIR19A MIR20A
17
Glioblastoma Multiforme 64
11.88 APC CTNNB1 NRAS TP53
18
Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling 65
Show member pathways
 11.81 APC CTNNB1 PTCH2 SMO SUFU TP53
19
DNA Damage Response (only ATM dependent) 1
11.78 APC CTNNB1 NRAS PIK3CA TP53
20
FGFR1 mutant receptor activation 66
Show member pathways
 11.76 FGFR1 NRAS PIK3CA
21
VEGF Pathway (Tocris) 72
Show member pathways
 11.72 FGFR1 NRAS PIK3CA
22
Parkinsons Disease Pathway 1
11.7 MIR17 MIR18A MIR19A MIR20A
23
Central carbon metabolism in cancer 37
11.57 FGFR1 NRAS PIK3CA TP53
24
Copper homeostasis 1
11.51 APC PIK3CA TP53
25
N-cadherin signaling events 1
11.27 CTNNB1 FGFR1 PIK3CA
26
Signaling events mediated by the Hedgehog family 1
Show member pathways
 11.26 PIK3CA PTCH2 SMO
27
Extracellular vesicle-mediated signaling in recipient cells 1
11.2 APC CTNNB1 NRAS
Sources

GO Terms for Medulloblastoma

About this section

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

# Name GO ID Score Top Affiliating Genes
1 beta-catenin destruction complex GO:0030877 8.96 APC CTNNB1
2 Wnt signalosome GO:1990909 8.62 APC CTNNB1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.89 CTNNB1 MIR125A MIR30B SMO TP53
2 regulation of gene expression GO:0010468 9.83 CTNNB1 FGFR1 PIK3CA SMO
3 canonical Wnt signaling pathway GO:0060070 9.72 APC CTNNB1 SMO
4 negative regulation of angiogenesis GO:0016525 9.67 CTNNB1 MIR125A MIR30B MIR34A
5 skin development GO:0043588 9.65 CTNNB1 PTCH2 SUFU
6 regulation of cell differentiation GO:0045595 9.63 APC CTNNB1 FGFR1
7 negative regulation of gene expression GO:0010629 9.63 CTNNB1 FGFR1 MIR125A MIR17 MIR20A SMO
8 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.57 BRCA2 TP53
9 positive regulation of cardiac muscle cell apoptotic process GO:0010666 9.56 MIR17 MIR34A
10 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.54 MIR17 MIR20A
11 lung-associated mesenchyme development GO:0060484 9.51 CTNNB1 FGFR1
12 positive regulation of mesenchymal cell proliferation GO:0002053 9.5 CTNNB1 FGFR1 SMO
13 gene silencing by miRNA GO:0035195 9.5 MIR125A MIR17 MIR18A MIR19A MIR20A MIR30B
14 chordate embryonic development GO:0043009 9.43 BRCA2 FGFR1
15 cell fate specification GO:0001708 9.43 APC CTNNB1 SMO
16 positive regulation of pulmonary blood vessel remodeling GO:1905111 9.4 MIR17 MIR20A
17 negative regulation of sprouting angiogenesis GO:1903671 9.02 MIR17 MIR18A MIR19A MIR20A MIR34A

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.17 MIR125A MIR17 MIR18A MIR19A MIR20A MIR30B
Sources

Sources for Medulloblastoma

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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