MCID: MDL005
MIFTS: 76

Medulloblastoma

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

Aliases & Classifications for Medulloblastoma

MalaCards integrated aliases for Medulloblastoma:

Name: Medulloblastoma 53 12 72 49 55 71 36 28 13 51 41 14 69
Mdb 53 49 71
Localized Primitive Neuroectodermal Tumor 12 69
Classic Medulloblastoma 55 69
Cpnet 12 69
Infratentorial Primitive Neuroectodermal Tumor 12
Medulloblastoma, with Extensive Nodularity 69
Medulloblastoma with Extensive Nodularity 55
Desmoplastic/nodular Medulloblastoma 55
Neuroectodermal Tumors, Primitive 41
Medulloblastoma, Desmoplastic 53
Medulloblastoma Desmoplastic 51
Desmoplastic Medulloblastoma 69
Medulloblastoma, Somatic 53
Brain Medulloblastoma 12
Cns Pnet 12
Mben 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive
autosomal dominant
somatic

Miscellaneous:
incomplete penetrance


HPO:

31
medulloblastoma:
Onset and clinical course incomplete penetrance
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Medulloblastoma

NIH Rare Diseases : 49 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. Last updated: 10/21/2014

MalaCards based summary : Medulloblastoma, also known as mdb, is related to childhood medulloblastoma and adult medulloblastoma, and has symptoms including headache, vertigo and back pain. 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 brain, cerebellum and bone, and related phenotypes are Increased vaccinia virus (VACV) infection and cellular

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 : 53 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 : 71 Medulloblastoma: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

Wikipedia : 72 Medulloblastoma (/məˌdʌloʊblæˈstoʊmə/) is the most common type of pediatric malignant primary brain... 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 204)
# Related Disease Score Top Affiliating Genes
1 childhood medulloblastoma 34.3 ERBB4 MYC NTRK3 PTCH1 SUFU
2 adult medulloblastoma 34.2 GFAP GLI1 PTCH1 SUFU
3 nodular medulloblastoma 34.1 CTNNB1 GFAP GLI1 PTCH1 SUFU
4 basal cell nevus syndrome 33.0 GLI1 PTCH1 PTCH2 SMO SUFU
5 cerebellar liponeurocytoma 32.8 GFAP PTCH1 SUFU
6 basal cell carcinoma 1 31.3 PTCH1 SMO
7 basal cell carcinoma 31.1 CTNNB1 GLI1 PTCH1 PTCH2 SMO SUFU
8 medullomyoblastoma 30.5 GFAP MYC OTX2
9 glioblastoma 30.4 BRCA2 DMBT1 GLI1 MYC
10 brain cancer 30.3 CTNNB1 DMBT1 GFAP PTCH1
11 nervous system cancer 30.2 GFAP GLI1 MYC PTCH1
12 familial adenomatous polyposis 30.1 APC CTNNB1 MYC
13 large cell medulloblastoma 12.3
14 cerebellar medulloblastoma 12.1
15 melanotic medulloblastoma 12.1
16 cerebellar vermis medulloblastoma 12.0
17 brain stem medulloblastoma 11.9
18 anaplastic/large cell medulloblastoma 11.8
19 mismatch repair cancer syndrome 11.5
20 rhabdoid tumor predisposition syndrome 1 11.4
21 central nervous system primitive neuroectodermal neoplasm 11.3
22 curry-jones syndrome 11.2
23 adult central nervous system primitive neuroectodermal neoplasm 11.1
24 childhood central nervous system primitive neuroectodermal neoplasm 11.1
25 rhabdoid tumor predisposition syndrome 2 10.9
26 blastoma 10.9
27 desmoid disease, hereditary 10.7 APC CTNNB1
28 basal cell carcinoma, multiple 10.7 PTCH1 PTCH2 SMO
29 vulva basal cell carcinoma 10.7 MYC PTCH1
30 hemimegalencephaly 10.7 CTNNB1 GFAP MYC
31 keratocystic odontogenic tumor 10.7 GLI1 PTCH1 SMO SUFU
32 familial adenomatous polyposis 1 10.7 APC CTNNB1
33 ameloblastoma 10.6 GLI1 PTCH1 SMO
34 pilomyxoid astrocytoma 10.6 GFAP SUFU
35 spina bifida occulta 10.5 PTCH1 ZIC1
36 infratentorial cancer 10.5 CTNNB1 GFAP GLI1 KCTD11 MYC NTRK3
37 cerebellum cancer 10.5 PTCH1 SUFU
38 acinar cell carcinoma 10.4 APC BRCA2 CTNNB1
39 desmoid tumor 10.3 APC CTNNB1
40 female reproductive organ cancer 10.3 BRCA2 CTNNB1 MYC
41 colonic benign neoplasm 10.3 APC BRCA2 CTNNB1
42 pancreas adenocarcinoma 10.3 BRCA2 CTNNB1 GLI1
43 neuronitis 10.3
44 reproductive organ cancer 10.2 BRCA2 CTNNB1 MYC
45 astrocytoma 10.2
46 supratentorial primitive neuroectodermal tumor 10.1
47 ependymoma 10.1
48 atypical teratoid rhabdoid tumor 10.0
49 glioma 10.0
50 meningioma, familial 10.0

Graphical network of the top 20 diseases related to Medulloblastoma:



Diseases related to Medulloblastoma

Symptoms & Phenotypes for Medulloblastoma

Symptoms via clinical synopsis from OMIM:

53
Neoplasia:
medulloblastoma

LaboratoryAbnormalities:
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:

55 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 headache 55 31 frequent (33%) Frequent (79-30%) HP:0002315
2 vertigo 55 31 occasional (7.5%) Occasional (29-5%) HP:0002321
3 back pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0003418
4 nausea and vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002017
5 lethargy 55 31 frequent (33%) Frequent (79-30%) HP:0001254
6 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
7 diplopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000651
8 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
9 increased intracranial pressure 55 31 frequent (33%) Frequent (79-30%) HP:0002516
10 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
11 irritability 55 31 occasional (7.5%) Occasional (29-5%) HP:0000737
12 progressive visual loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0000529
13 elevated hepatic transaminases 55 31 very rare (1%) Very rare (<4-1%) HP:0002910
14 dysmetria 55 31 frequent (33%) Frequent (79-30%) HP:0001310
15 intention tremor 55 31 frequent (33%) Frequent (79-30%) HP:0002080
16 adenomatous colonic polyposis 55 31 occasional (7.5%) Occasional (29-5%) HP:0005227
17 neoplasm of the lung 55 31 very rare (1%) Very rare (<4-1%) HP:0100526
18 abnormality of bone marrow cell morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0005561
19 neuroblastoma 55 31 very rare (1%) Very rare (<4-1%) HP:0003006
20 spinal cord tumor 55 31 occasional (7.5%) Occasional (29-5%) HP:0010302
21 delayed cranial suture closure 55 31 frequent (33%) Frequent (79-30%) HP:0000270
22 medulloblastoma 55 31 Obligate (100%) HP:0002885
23 abnormal brain fdg positron emission tomography 55 31 frequent (33%) Frequent (79-30%) HP:0012658
24 abnormality of the cranial nerves 55 31 frequent (33%) Frequent (79-30%) HP:0001291
25 progressive cerebellar ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0002073
26 bilateral sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0008619
27 cerebellar medulloblastoma 55 31 frequent (33%) Frequent (79-30%) HP:0007129
28 progressive macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0004481
29 cerebellar ataxia associated with quadrupedal gait 55 31 frequent (33%) Frequent (79-30%) HP:0009878
30 cerebellar cyst 55 31 occasional (7.5%) Occasional (29-5%) HP:0002350
31 cerebellar calcifications 55 31 occasional (7.5%) Occasional (29-5%) HP:0007352
32 total ophthalmoplegia 55 31 occasional (7.5%) Occasional (29-5%) HP:0007824
33 cerebellar hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0011695
34 ataxia 55 Frequent (79-30%)

UMLS symptoms related to Medulloblastoma:


gait ataxia, vomiting, headache, cerebellar ataxia/dyskinesia

GenomeRNAi Phenotypes related to Medulloblastoma according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.62 APC BRCA2 CDCA7L CTNNB1 DAB2IP DMBT1

MGI Mouse Phenotypes related to Medulloblastoma:

43 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 DAB2IP BRCA2 APC CTNNB1 GFAP MYC
2 digestive/alimentary MP:0005381 10.35 BRCA2 APC CTNNB1 GLI1 DMBT1 MYC
3 behavior/neurological MP:0005386 10.34 CTNNB1 BRCA2 APC GFAP GLI1 ERBB4
4 mortality/aging MP:0010768 10.34 BRCA2 APC CTNNB1 GFAP MYC DMBT1
5 cardiovascular system MP:0005385 10.33 APC CTNNB1 GFAP MYC ERBB4 OTX2
6 growth/size/body region MP:0005378 10.33 CTNNB1 BRCA2 APC GFAP GLI1 OTX2
7 nervous system MP:0003631 10.31 BRCA2 DAB2IP APC CTNNB1 GFAP GLI1
8 embryo MP:0005380 10.3 BRCA2 APC CTNNB1 DMBT1 GLI1 ERBB4
9 craniofacial MP:0005382 10.23 APC CTNNB1 MYC GLI1 ERBB4 OTX2
10 muscle MP:0005369 10.18 APC CTNNB1 GFAP ERBB4 MYC PTCH1
11 normal MP:0002873 10.18 BRCA2 APC CTNNB1 GFAP GLI1 ERBB4
12 hearing/vestibular/ear MP:0005377 10.14 APC CTNNB1 MYC DMBT1 OTX2 NTRK3
13 integument MP:0010771 10.13 CTNNB1 BRCA2 APC ERBB4 PTCH1 MYC
14 limbs/digits/tail MP:0005371 10.11 BRCA2 APC CTNNB1 MYC GLI1 PTCH1
15 neoplasm MP:0002006 10.11 BRCA2 APC CTNNB1 DMBT1 GLI1 MYC
16 no phenotypic analysis MP:0003012 10.01 APC CTNNB1 DAB2IP GLI1 MYC NTRK3
17 reproductive system MP:0005389 9.91 CTNNB1 BRCA2 APC GLI1 ERBB4 PTCH1
18 pigmentation MP:0001186 9.8 APC CTNNB1 MYC OTX2 PTCH1 SUFU
19 respiratory system MP:0005388 9.76 CTNNB1 GLI1 ERBB4 OTX2 NTRK3 PTCH1
20 skeleton MP:0005390 9.61 CTNNB1 BRCA2 APC PTCH1 OTX2 MYC
21 vision/eye MP:0005391 9.23 CTNNB1 APC GFAP PTCH1 OTX2 NTRK3

Drugs & Therapeutics for Medulloblastoma

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

(show top 50) (show all 297)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 4,Phase 2,Phase 3,Phase 1 41575-94-4 10339178 38904 498142
2
Cisplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 15663-27-1 2767 441203 84093
3
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
4
Etoposide Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 33419-42-0 36462
5
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 135968-09-1
6
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1959-05-2, 59-05-2 126941
7 Thiotepa Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 52-24-4 5453
8
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
9
Mesna Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 3375-50-6 598
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
11
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-05-9 143 6006
12 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
13 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Antineoplastic Agents, Phytogenic Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
18 Dermatologic Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
19 Etoposide phosphate Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
20 Folic Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
21 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
22 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
23 Topoisomerase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
24 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
25 Folate Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
27
Lomustine Approved, Investigational Phase 3,Phase 2,Phase 1 13010-47-4 3950
28
Dacarbazine Approved, Investigational Phase 2, Phase 3,Phase 1 4342-03-4 5351166
29
Temozolomide Approved, Investigational Phase 2, Phase 3, Phase 1 85622-93-1 5394
30
Melphalan Approved Phase 2, Phase 3,Phase 1 148-82-3 460612 4053
31
Levoleucovorin Approved, Investigational Phase 3,Phase 2,Early Phase 1 68538-85-2
32
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
33
Donepezil Approved Phase 3,Phase 2,Early Phase 1 120014-06-4 3152
34
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 50-02-2 5743
35
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
36
Ondansetron Approved Phase 3 99614-02-5 4595
37
Isotretinoin Approved Phase 3,Phase 2,Phase 1 4759-48-2 5282379 5538
38
Cyproheptadine Approved Phase 3,Phase 2 129-03-3 2913
39
Histamine Approved, Investigational Phase 3,Phase 2 51-45-6, 75614-87-8 774
40
Metformin Approved Phase 3 657-24-9 4091 14219
41 Trofosfamide Investigational Phase 2, Phase 3 22089-22-1
42 Pancreatic Polypeptide Investigational Phase 3,Phase 1 59763-91-6
43 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1
44 Protective Agents Phase 3,Phase 2,Phase 1
45 Liver Extracts Phase 3,Phase 2,Phase 1
46 Antidotes Phase 3,Phase 2,Phase 1
47 Calcium, Dietary Phase 3,Phase 2,Phase 1
48 Micronutrients Phase 3,Phase 2,Phase 1
49 Trace Elements Phase 3,Phase 2,Phase 1
50 Vitamins Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 250)

# 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 Interest of a Dose Decrease for Radiotherapy Associated With Chemotherapy for Treatment of Standard Risk Adult Medulloblastomas Unknown status NCT01857453 Phase 2 carboplatine;Etoposide
22 Radiation Therapy and Combination Chemotherapy in Treating Young Patients With Metastatic Medulloblastoma Who Have Undergone Surgery Unknown status NCT00276666 Phase 2 cisplatin;lomustine;vincristine sulfate
23 High Risk Primitive Neuroectodermal (PNET) Brain Tumors in Childhood Unknown status NCT00180791 Phase 2 Etoposide, carboplatin, melphalan, cisplatin, thiotepa
24 Study of Vinorelbine and Cyclofosfamide Among Patients With Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
25 The Use of 5-aminolevulinic Acid (ALA) as an Intraoperative Tumor Marker for Resection of Pediatric Central Nervous System (CNS) Tumors Unknown status NCT02050243 Phase 1, Phase 2 5ALA
26 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
27 Combination Chemotherapy With or Without Radiation Therapy in Treating Children With Brain Tumors Unknown status NCT00281905 Phase 2 carboplatin;cisplatin;cyclophosphamide;methotrexate;vincristine sulfate
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 A Phase II Study of Oral LDE225 in Patients With Hedge-Hog (Hh)-Pathway Activated Relapsed Medulloblastoma (MB) Completed NCT01708174 Phase 2 LDE225;TMZ
32 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
33 Concurrent Carboplatin and Reduced Dose Craniospinal Radiation for Medulloblastoma and Primitive Neuroectodermal Tumor (PNET) Completed NCT01542736 Phase 2 Carboplatin;Vincristine
34 Oxaliplatin in Treating Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Completed NCT00047177 Phase 2 Oxaliplatin
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 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
38 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
39 Combination of Irinotecan and Temozolomide in Children With Brain Tumors. Completed NCT00404495 Phase 2 Irinotecan;Temozolomide
40 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
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 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
43 Combination Chemotherapy Plus Radiation Therapy in Treating Adult Patients With Brain Cancer Completed NCT00003309 Phase 2 cisplatin;cyclophosphamide;etoposide;vincristine sulfate
44 Lapatinib in Treating Young Patients With Recurrent or Refractory Central Nervous System Tumors Completed NCT00095940 Phase 1, Phase 2 lapatinib ditosylate
45 A Study of Pemetrexed in Children With Recurrent Cancer Completed NCT00520936 Phase 2 pemetrexed
46 Clinical Studies of Gemcitabine-Oxaliplatin Completed NCT00407433 Phase 2 Gemcitabine (Gemzar®), Oxaliplatin (Eloxatin®)
47 Rebeccamycin Analogue in Treating Children With Solid Tumors or Non-Hodgkin's Lymphoma Completed NCT00006102 Phase 2 becatecarin
48 Phenylbutyrate to Treat Children With Progressive or Recurrent Brain Tumors Completed NCT00006450 Phase 2 Phenylbutyrate
49 Irinotecan in Treating Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
50 Topotecan Hydrochloride in Treating Children With Meningeal Cancer That Has Not Responded to Previous Treatment Completed NCT00005811 Phase 2 topotecan hydrochloride

Search NIH Clinical Center for Medulloblastoma

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: medulloblastoma

Genetic Tests for Medulloblastoma

Genetic tests related to Medulloblastoma:

# Genetic test Affiliating Genes
1 Medulloblastoma 28 BRCA2 CTNNB1 PTCH2 SUFU

Anatomical Context for Medulloblastoma

MalaCards organs/tissues related to Medulloblastoma:

38
Brain, Cerebellum, Bone, Bone Marrow, Liver, Lung, Myeloid

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

18
The Lower Part Of The Brain

Publications for Medulloblastoma

Articles related to Medulloblastoma:

(show top 50) (show all 1578)
# Title Authors Year
1
Characterization of a novel OTX2-driven stem cell program in Group 3 and Group 4 medulloblastoma. ( 29377567 )
2018
2
Basal Suppression of the Sonic Hedgehog Pathway by the G-Protein-Coupled Receptor Gpr161 Restricts Medulloblastoma Pathogenesis. ( 29386106 )
2018
3
Medulloblastoma in association with sacral agenesis; a case report. ( 29404676 )
2018
4
Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a. ( 29167993 )
2018
5
Prognostic relevance of tumor-infiltrating lymphocytes and immune checkpoints in pediatric medulloblastoma. ( 29399402 )
2018
6
Intellectual, educational, and situation-based social outcome in adult survivors of childhood medulloblastoma. ( 29336639 )
2018
7
Disruption of the ciliary GTPase Arl13b suppresses Sonic hedgehog overactivation and inhibits medulloblastoma formation. ( 29378965 )
2018
8
Long-term outcomes of adult medulloblastoma patients treated with radiotherapy. ( 29019042 )
2018
9
Medulloblastoma with transitional features between Group 3 and Group 4 is associated with good prognosis. ( 29427151 )
2018
10
The FDA approved PI3K inhibitor GDC-0941 enhances inA vitro the anti-neoplastic efficacy of Axitinib against c-myc-amplified high-risk medulloblastoma. ( 29377550 )
2018
11
Ovulation induction and oocyte retrieval for fertility preservation in young adolescents newly diagnosed with medulloblastoma: a case series. ( 29390921 )
2018
12
Glutamine metabolism, the Achilles heel for medulloblastoma tumor. ( 29358733 )
2018
13
Treatment outcome and prognostic factors for adult patients with medulloblastoma: The Rare Cancer Network (RCN) experience. ( 29373196 )
2018
14
Medulloblastoma: A turning point from fundamental advances to improved survival and decreased sequelae. ( 29433819 )
2018
15
Further Investigation About the Expression of SST, GAD2, and PVALB in Medulloblastoma. ( 29433172 )
2018
16
Medulloblastoma: A turning point from fundamental advances to improved survival and decreased sequelae. ( 29448992 )
2018
17
Survival Following Tumor Recurrence in Children With Medulloblastoma. ( 29432312 )
2018
18
Ototoxicity and cochlear sparing in children with medulloblastoma: Proton vs. photon radiotherapy. ( 29373195 )
2018
19
Statins Synergize with Hedgehog Pathway Inhibitors for Treatment of Medulloblastoma. ( 29437795 )
2018
20
Medulloblastoma with myogenic and/or melanotic differentiation does not align immunohistochemically with the genetically defined molecular subgroups. ( 29412177 )
2018
21
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
22
Pre-treatment lymphopenia and indication of tumor-induced systemic immunosuppression in medulloblastoma. ( 29143922 )
2018
23
Pearls & Oy-sters: Positional vertigo and vertical nystagmus in medulloblastoma: A picture is worth a thousand words. ( 29358519 )
2018
24
Ginsenoside Rh2 inhibits proliferation and migration of medulloblastoma Daoy by down-regulation of microRNA-31. ( 29377269 )
2018
25
Near-Fatal Gastrointestinal Hemorrhage in a Child with Medulloblastoma on High Dose Dexamethasone. ( 28924528 )
2017
26
A review of dosimetric and toxicity modeling of proton versus photon craniospinal irradiation for pediatrics medulloblastoma. ( 28509599 )
2017
27
Detection of lower levels of SNAP25 using multiple microarray systems and its functional significance in medulloblastoma. ( 28339008 )
2017
28
Risk factors for development of postoperative cerebellar mutism syndrome in children after medulloblastoma surgery. ( 28498095 )
2017
29
Pyruvate kinase inhibits proliferation during postnatal cerebellar neurogenesis and suppresses medulloblastoma formation. ( 28515149 )
2017
30
Distinctive localization and MRI features correlate of molecular subgroups in adult medulloblastoma. ( 28808827 )
2017
31
Medulloblastoma and ependymoma cells display increased levels of 5-carboxylcytosine and elevated TET1 expression. ( 28228863 )
2017
32
Understanding medulloblastoma. ( 28953021 )
2017
33
Multiple pilomatrixomas in a survivor of WNT-activated medulloblastoma leading to the discovery of a germline APC mutation and the diagnosis of familial adenomatous polyposis. ( 28792655 )
2017
34
Chemoradiation impairs normal developmental cortical thinning in medulloblastoma. ( 28534154 )
2017
35
High OCT4A levels drive tumorigenicity and metastatic potential of medulloblastoma cells. ( 28186969 )
2017
36
Study of hTERT and Histone 3 Mutations in Medulloblastoma. ( 27694758 )
2017
37
Oncogenic role of cytomegalovirus in medulloblastoma? ( 28844716 )
2017
38
Corrigendum: Selective targeting of HDAC1/2 elicits anticancer effects through Gli1 acetylation in preclinical models of SHH Medulloblastoma. ( 28429760 )
2017
39
Advances in Genomics Explain Medulloblastoma Behavior at the Bedside. ( 28899050 )
2017
40
Imaging mass spectrometry identifies prognostic ganglioside species in rodent intracranial transplants of glioma and medulloblastoma. ( 28463983 )
2017
41
PLK1-associated microRNAs are correlated with pediatric medulloblastoma prognosis. ( 28283778 )
2017
42
Severe vincristine-induced polyneuropathy in a teenager with anaplastic medulloblastoma and undiagnosed Charcot-Marie-Tooth disease. ( 28438772 )
2017
43
Potential role of long non-coding RNA ANRIL in pediatric medulloblastoma through promotion on proliferation and migration by targeting miR-323. ( 28513871 )
2017
44
An unusual combination of mirror-image dextrocardia with familial medulloblastoma : Is there a histogenetic relationship? ( 28844926 )
2017
45
Tailoring Medulloblastoma Treatment Through Genomics: Making a Change, One Subgroup at a Time. ( 28475368 )
2017
46
ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients. ( 28338501 )
2017
47
Bone Marrow Buffy Coat Cell Block for Confirmation of Isolated Bone Marrow Relapse in Medulloblastoma. ( 28824255 )
2017
48
Ganglioglioma Arising From Desmoplastic Medulloblastoma: A Case Report and Review of Literature. ( 28232638 )
2017
49
Silencing of Urothelial Carcinoma Associated 1 Inhibits the Proliferation and Migration of Medulloblastoma Cells. ( 28916736 )
2017
50
Regulation of UHRF1 by microRNA-378 modulates medulloblastoma cell proliferation and apoptosis. ( 28901497 )
2017

Variations for Medulloblastoma

UniProtKB/Swiss-Prot genetic disease variations for Medulloblastoma:

71
# 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 91)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
2 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
3 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
4 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
5 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121912657 GRCh37 Chromosome 17, 7577124: 7577124
6 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
7 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
8 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
9 PIK3CA NM_006218.3(PIK3CA): c.1636C> G (p.Gln546Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
10 PIK3CA NM_006218.3(PIK3CA): c.1636C> A (p.Gln546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
11 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh37 Chromosome 1, 115258745: 115258745
12 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121434596 GRCh37 Chromosome 1, 115258744: 115258744
13 CTNNB1 NM_001904.3(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
14 CTNNB1 NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913396 GRCh37 Chromosome 3, 41266098: 41266098
15 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
16 CTNNB1 NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28931588 GRCh37 Chromosome 3, 41266097: 41266097
17 CTNNB1 NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
18 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh37 Chromosome 3, 41266104: 41266104
19 CTNNB1 NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
20 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh37 Chromosome 13, 32914174: 32914174
21 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh37 Chromosome 13, 32930609: 32930609
22 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh37 Chromosome 13, 32954050: 32954050
23 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913281 GRCh37 Chromosome 3, 178952084: 178952084
24 PIK3CA NM_006218.3(PIK3CA): c.1637A> G (p.Gln546Arg) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh37 Chromosome 3, 178936095: 178936095
25 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh37 Chromosome 13, 32893291: 32893291
26 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh37 Chromosome 13, 32914349: 32914349
27 IDH1 NM_001282386.1(IDH1): c.395G> A (p.Arg132His) single nucleotide variant Pathogenic/Likely pathogenic rs121913500 GRCh38 Chromosome 2, 208248388: 208248388
28 SUFU NM_016169.3(SUFU): c.44C> T (p.Pro15Leu) single nucleotide variant Pathogenic rs28942088 GRCh37 Chromosome 10, 104263953: 104263953
29 SUFU SUFU, 1-BP INS, 143A insertion Pathogenic
30 SUFU NM_016169.3(SUFU): c.1022+1G> A single nucleotide variant Pathogenic rs587776578 GRCh37 Chromosome 10, 104359302: 104359302
31 SUFU SUFU, 2.5-Mb DEL deletion Pathogenic
32 SUFU NM_016169.3(SUFU): c.71delC (p.Pro24Argfs) deletion Pathogenic rs587776579 GRCh37 Chromosome 10, 104263980: 104263980
33 SUFU SUFU, 1-BP INS, 71C insertion Pathogenic
34 PTCH2 NM_001166292.1(PTCH2): c.1172_1173delCT (p.Ser391Terfs) deletion Pathogenic/Likely pathogenic rs56126236 GRCh37 Chromosome 1, 45295116: 45295117
35 SUFU NM_016169.3(SUFU): c.111delC (p.Tyr38Thrfs) deletion Pathogenic rs863224925 GRCh37 Chromosome 10, 104264020: 104264020
36 FGFR1 NM_023110.2(FGFR1): c.1638C> A (p.Asn546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs779707422 GRCh37 Chromosome 8, 38274849: 38274849
37 FGFR1 NM_023110.2(FGFR1): c.1966A> G (p.Lys656Glu) single nucleotide variant Pathogenic/Likely pathogenic rs869320694 GRCh37 Chromosome 8, 38272308: 38272308
38 TP53 NM_000546.5(TP53): c.818G> C (p.Arg273Pro) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
39 TP53 NM_000546.5(TP53): c.743G> T (p.Arg248Leu) single nucleotide variant Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
40 TP53 NM_000546.5(TP53): c.743G> C (p.Arg248Pro) single nucleotide variant Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
41 NRAS NM_002524.4(NRAS): c.38G> T (p.Gly13Val) single nucleotide variant Pathogenic/Likely pathogenic rs121434596 GRCh37 Chromosome 1, 115258744: 115258744
42 IDH1 NM_005896.3(IDH1): c.395G> T (p.Arg132Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913500 GRCh37 Chromosome 2, 209113112: 209113112
43 IDH1 NM_001282387.1(IDH1): c.394C> T (p.Arg132Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 GRCh37 Chromosome 2, 209113113: 209113113
44 IDH1 NM_001282387.1(IDH1): c.394C> G (p.Arg132Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 GRCh37 Chromosome 2, 209113113: 209113113
45 IDH1 NM_001282387.1(IDH1): c.394C> A (p.Arg132Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 GRCh37 Chromosome 2, 209113113: 209113113
46 CTNNB1 NM_001904.3(CTNNB1): c.110C> A (p.Ser37Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
47 PIK3CA NM_006218.3(PIK3CA): c.1637A> C (p.Gln546Pro) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh37 Chromosome 3, 178936095: 178936095
48 PIK3CA NM_006218.3(PIK3CA): c.1637A> T (p.Gln546Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh37 Chromosome 3, 178936095: 178936095
49 SMO NM_005631.4(SMO): c.1417G> C (p.Asp473His) single nucleotide variant Pathogenic rs17710891 GRCh37 Chromosome 7, 128849189: 128849189
50 TP53 NM_001126112.2(TP53): c.746G> C (p.Arg249Thr) single nucleotide variant Likely pathogenic rs587782329 GRCh37 Chromosome 17, 7577535: 7577535

Cosmic variations for Medulloblastoma:

9 (show top 50) (show all 197)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM1371 SUFU central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.1022+1G>A p.? 30
2 COSM14464 PTCH1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.1804C>T p.R602* 30
3 COSM585 NRAS central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.183A>T p.Q61H 30
4 COSM5664 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.121A>G p.T41A 30
5 COSM13144 SMO central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.1598G>A p.S533N 29
6 COSM5679 CTNNB1 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.110C>G p.S37C 29
7 COSM10704 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.844C>T p.R282W 27
8 COSM10738 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.542G>A p.R181H 27
9 COSM10659 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.817C>T p.R273C 27
10 COSM11517 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.377A>G p.Y126C 27
11 COSM6932 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.733G>A p.G245S 27
12 COSM17438 PTCH1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.2503G>T p.E835* 27
13 COSM580 NRAS central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.181C>A p.Q61K 27
14 COSM5667 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.134C>T p.S45F 27
15 COSM5687 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.109T>C p.S37P 27
16 COSM5672 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.94G>A p.D32N 27
17 COSM5677 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>G p.S33C 27
18 COSM5669 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>T p.S33F 27
19 COSM5682 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.97T>C p.S33P 27
20 COSM5661 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.94G>T p.D32Y 27
21 COSM5718 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.149G>A p.G50D 27
22 COSM5673 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>A p.S33Y 27
23 COSM5662 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.110C>T p.S37F 27
24 COSM5686 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.100G>A p.G34R 27
25 COSM5671 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.101G>A p.G34E 27
26 COSM5670 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.101G>T p.G34V 27
27 COSM5675 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.109T>G p.S37A 27
28 COSM5690 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.95A>C p.D32A 27
29 COSM5666 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.110C>A p.S37Y 27
30 COSM4972316 AXIN2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.2087A>G p.Q696R 27
31 COSM43651 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.763A>T p.I255F 26
32 COSM53285 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.379T>A p.S127T 26
33 COSM5991649 CXCR4 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,classic c.301G>A p.D101N 26
34 COSM5691 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.95A>T p.D32V 26
35 COSM133744 AXIN1 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,classic c.652C>T p.P218S 26
36 COSM96955 SUFU central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,large cell c.1084C>T p.R362C 25
37 COSM10648 TP53 central nervous system,brain,glioma,anaplastic c.524G>A p.R175H 8
38 COSM10654 TP53 central nervous system,brain,glioma,anaplastic c.637C>T p.R213* 8
39 COSM11166 TP53 central nervous system,brain,glioma,anaplastic c.406C>T p.Q136* 8
40 COSM10810 TP53 central nervous system,brain,glioma,anaplastic c.725G>T p.C242F 8
41 COSM43742 TP53 central nervous system,brain,glioma,anaplastic c.419C>T p.T140I 8
42 COSM43679 TP53 central nervous system,brain,glioma,anaplastic c.531C>T p.P177P 8
43 COSM43748 TP53 central nervous system,brain,glioma,anaplastic c.783T>C p.S261S 8
44 COSM44606 TP53 central nervous system,brain,glioma,anaplastic c.665C>T p.P222L 8
45 COSM11090 TP53 central nervous system,brain,glioma,anaplastic c.541C>T p.R181C 8
46 COSM44249 TP53 central nervous system,brain,glioma,anaplastic c.623A>T p.D208V 8
47 COSM10660 TP53 central nervous system,brain,glioma,anaplastic c.818G>A p.R273H 8
48 COSM10834 TP53 central nervous system,brain,glioma,anaplastic c.711G>A p.M237I 8
49 COSM43765 TP53 central nervous system,brain,glioma,anaplastic c.727A>C p.M243L 8
50 COSM11071 TP53 central nervous system,brain,glioma,anaplastic c.1009C>T p.R337C 8

Copy number variations for Medulloblastoma from CNVD:

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

Expression for Medulloblastoma

Search GEO for disease gene expression data for Medulloblastoma.

Pathways for Medulloblastoma

Pathways related to Medulloblastoma according to KEGG:

36
# 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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 APC CTNNB1 ERBB4 GLI1 MYC NTRK3
2
Show member pathways
13.32 CTNNB1 ERBB4 GLI1 KCTD11 KCTD6 NTRK3
3
Show member pathways
12.88 CTNNB1 GLI1 PTCH1 PTCH2 SMO SUFU
4 12.11 CTNNB1 ERBB4 MYC PTCH1 SMO
5 12 APC BRCA2 CTNNB1 GLI1 MYC PTCH1
6 11.89 APC CTNNB1 GLI1 PTCH1 PTCH2 SUFU
7
Show member pathways
11.86 APC CTNNB1 GLI1 PTCH1 PTCH2 SMO
8
Show member pathways
11.77 GLI1 PTCH1 PTCH2 SMO SUFU
9 11.74 CTNNB1 GFAP MYC ZIC1
10 11.62 APC CTNNB1 MYC
11 11.46 APC CTNNB1 ERBB4 MYC
12 11.42 APC CTNNB1 MYC
13 11.35 APC CTNNB1 MYC
14 11.24 GLI1 PTCH1 SMO
15
Show member pathways
11.15 PTCH1 PTCH2 SMO

GO Terms for Medulloblastoma

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.83 APC BRCA2 CDCA7L CTNNB1 DAB2IP DMBT1
2 cilium GO:0005929 9.67 GLI1 PTCH1 SMO SUFU
3 beta-catenin destruction complex GO:0030877 9.32 APC CTNNB1
4 catenin complex GO:0016342 9.26 APC CTNNB1
5 Wnt signalosome GO:1990909 9.16 APC CTNNB1
6 ciliary tip GO:0097542 8.8 GLI1 SMO SUFU

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.99 APC CTNNB1 DAB2IP ERBB4 NTRK3
2 positive regulation of cell proliferation GO:0008284 9.98 CDCA7L CTNNB1 ERBB4 GLI1 MYC NTRK3
3 protein homooligomerization GO:0051260 9.94 APC KCTD11 KCTD21 KCTD6
4 in utero embryonic development GO:0001701 9.92 CTNNB1 MYC PTCH1 SMO
5 response to estradiol GO:0032355 9.85 CTNNB1 MYC PTCH1
6 response to wounding GO:0009611 9.83 GFAP GLI1 MYC
7 negative regulation of cell death GO:0060548 9.82 CTNNB1 MYC NTRK3
8 smoothened signaling pathway GO:0007224 9.8 GLI1 PTCH1 SMO
9 pattern specification process GO:0007389 9.77 PTCH1 SMO ZIC1
10 skin development GO:0043588 9.75 CTNNB1 PTCH2 SUFU
11 branching involved in ureteric bud morphogenesis GO:0001658 9.74 CTNNB1 MYC PTCH1
12 cellular response to epidermal growth factor stimulus GO:0071364 9.73 DAB2IP ERBB4 MYC
13 canonical Wnt signaling pathway GO:0060070 9.72 APC CTNNB1 GLI1 MYC SMO
14 liver regeneration GO:0097421 9.71 GLI1 MYC PTCH1
15 dorsal/ventral pattern formation GO:0009953 9.71 CTNNB1 GLI1 PTCH1 SMO
16 cell fate specification GO:0001708 9.69 CTNNB1 SMO
17 prostate gland development GO:0030850 9.69 GLI1 PTCH1
18 positive regulation of mesenchymal cell proliferation GO:0002053 9.69 CTNNB1 MYC SMO
19 somite development GO:0061053 9.68 PTCH1 SMO
20 regulation of protein complex assembly GO:0043254 9.67 DAB2IP GFAP
21 dorsal/ventral neural tube patterning GO:0021904 9.67 PTCH1 SMO
22 regulation of osteoblast differentiation GO:0045667 9.67 CTNNB1 GLI1
23 renal system development GO:0072001 9.67 CTNNB1 PTCH1 SMO
24 cellular response to cholesterol GO:0071397 9.66 PTCH1 SMO
25 layer formation in cerebral cortex GO:0021819 9.66 CTNNB1 DAB2IP
26 positive regulation of glial cell proliferation GO:0060252 9.65 GFAP MYC
27 cell fate determination GO:0001709 9.65 CTNNB1 PTCH1 PTCH2
28 regulation of growth GO:0040008 9.65 DAB2IP KCTD11 KCTD21 KCTD6 PTCH1
29 mammary gland epithelial cell differentiation GO:0060644 9.63 ERBB4 PTCH1 SMO
30 negative regulation of cell division GO:0051782 9.62 MYC PTCH1
31 positive regulation of epidermal cell differentiation GO:0045606 9.61 PTCH1 PTCH2
32 positive regulation of transcription, DNA-templated GO:0045893 9.61 BRCA2 CTNNB1 ERBB4 GLI1 MYC OTX2
33 cerebellar cortex morphogenesis GO:0021696 9.58 GLI1 SMO
34 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.55 GLI1 SMO
35 epidermal cell fate specification GO:0009957 9.52 PTCH1 PTCH2
36 regulation of smoothened signaling pathway GO:0008589 9.46 GLI1 OTX2 PTCH1 ZIC1
37 negative regulation of smoothened signaling pathway GO:0045879 9.1 KCTD11 KCTD21 KCTD6 PTCH1 PTCH2 SUFU
38 cell differentiation GO:0030154 10.16 CTNNB1 DMBT1 GLI1 KCTD11 NTRK3 ZIC1
39 positive regulation of transcription by RNA polymerase II GO:0045944 10.15 CTNNB1 DAB2IP GLI1 MYC OTX2 SMO
40 negative regulation of transcription by RNA polymerase II GO:0000122 10.12 CTNNB1 DAB2IP MYC PTCH1 SMO SUFU
41 nervous system development GO:0007399 10.07 CTNNB1 ERBB4 KCTD11 NTRK3 ZIC1
42 multicellular organism development GO:0007275 10.07 DAB2IP DMBT1 ERBB4 GLI1 KCTD11 NTRK3
43 negative regulation of cell proliferation GO:0008285 10.03 APC CTNNB1 DAB2IP ERBB4 PTCH1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 CTNNB1 GLI1 MYC OTX2 ZIC1
2 kinase binding GO:0019900 9.54 CTNNB1 DAB2IP GFAP
3 patched binding GO:0005113 9.32 PTCH1 SMO
4 hedgehog family protein binding GO:0097108 9.16 PTCH1 PTCH2
5 smoothened binding GO:0005119 8.96 PTCH1 PTCH2
6 hedgehog receptor activity GO:0008158 8.62 PTCH1 PTCH2

Sources for Medulloblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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