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MDB
MCID: MDL005
MIFTS: 77

Medulloblastoma (MDB)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Medulloblastoma

About this section

MalaCards integrated aliases for Medulloblastoma:

Name: Medulloblastoma 56 12 74 52 58 73 36 29 13 54 6 43 15 39 17 71
Mdb 56 52 73
Localized Primitive Neuroectodermal Tumor 12 71
Medulloblastoma with Extensive Nodularity 58 6
Medulloblastoma, Desmoplastic 56 6
Desmoplastic Medulloblastoma 17 71
Classic Medulloblastoma 58 71
Cpnet 12 71
Infratentorial Primitive Neuroectodermal Tumor 12
Medulloblastoma, with Extensive Nodularity 71
Desmoplastic/nodular Medulloblastoma 58
Neuroectodermal Tumors, Primitive 43
Medulloblastoma Desmoplastic 54
Medulloblastoma, Somatic 56
Brain Medulloblastoma 12
Medulloblastomas 15
Cns Pnet 12
Mben 58

Characteristics:

Orphanet epidemiological data:

58
medulloblastoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe),1-9/1000000 (United States); Age of onset: All ages; Age of death: adolescent,adult,early childhood,infantile,late childhood,young Adult;
classic medulloblastoma
Age of onset: Childhood;
desmoplastic/nodular medulloblastoma
Inheritance: Not applicable; Age of onset: Adult;
medulloblastoma with extensive nodularity
Inheritance: Not applicable; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
somatic mutation
autosomal recessive
autosomal dominant

Miscellaneous:
incomplete penetrance


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Fetal diseases
Anatomical: Neuronal diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050902
OMIM 56 155255
KEGG 36 H01667
MESH via Orphanet 44 D008527
ICD10 via Orphanet 33 C71.6
UMLS via Orphanet 72 C0025149 C0751291
UMLS 71 C0025149 C0206663 C0751291 more
Sources

Summaries for Medulloblastoma

About this section
NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 616 Definition Medulloblastoma (MB) is an embryonic tumor of the neuroepithelial tissue and the most frequent primary pediatric solid malignancy. MB represents a heterogeneous group of cerebellar tumors characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia . Epidemiology MB is the most common malignant brain tumor in childhood. Annual incidence is estimated at 1/909,000 in Europe. Males are more affected than females. Clinical description Age of disease onset is variable and can occur in patients ranging in age from the newborn period to adulthood (peak age at presentation is children 3-6 years, with only 25% of patients being between 15 and 44 years). The most common presenting symptoms are headache, vomiting, and ataxia. Additional features that may be observed include lethargy, motor or cranial nerve impairment, gaze palsy, visual impairment due to hydrocephalia, vertigo/hearing loss , behavioral changes/irritability, and extracranial pain (e.g. back pain in those with spinal metastases). Around 30% of pediatric cases present with metastases at diagnosis. Most metastases occur within the central nervous system by seeding via the cerebrospinal fluid (cranial or spinal), while spread to extracranial organs (e.g. bone marrow, liver, lungs) is very rare at diagnosis. In a minority of patients, MB is associated with Gorlin syndrome , familial adenomatous polyposis (FAP; the association of FAP and MB is referred to as the Turcot syndrome with polyposis) or with Li-Fraumeni Syndrome (see these terms). Increased susceptibility to certain tumors (neuroblastoma), hematological malignancies (acute lymphoblastic leukemia, acute myeloid leukemia) or disorders caused by mutations in genes encoding components of the RAS signaling pathway (Noonan syndrome or neurofibromatosis-Noonan syndrome) have been reported in MB (see these terms). Etiology To date, the exact etiology of MB is still unknown but genomic data has identified multiple candidate genes that contribute to the pathogenesis of different subgroups of MB. This includes an inhibitor of the sonic hedgehog pathway SUFU (10q24.32), the RNA helicase DDX3X (Xp11.3-p11.23), chromatin regulators KDM6A (Xp11.2) and N-CoR complex genes BCOR (Xp11.4), and the Parkinson's disease genes KMT2D (12q13.12), SMARCA4 (19p13.3), MYCN (2p24.3), and TP53 (17p13.1). Diagnostic methods MB occurs in the vermis and 20% occurs in the hemispheres of the cerebellum. Histologically, MB is characterized by small, round cells that stain blue with haematoxylin spectrum and appearance ranges from tumors with extensive nodularity to those with large cell/anaplastic features. Apart from classical MB, four histological variants of MB are recognized: anaplastic MB, large cell MB, MB with extensive nodularity, and desmoplastic/nodular MB. Differential diagnosis Differential diagnosis includes other brain tumors (ependymoma, glial tumor, atypical teratoid rhabdoid tumor; see these terms) and other causes of cerebellar alterations (infectious or cystic lesions, hemorrhages). Management and treatment Initially, patients need to be checked for increased intracranial pressure, which if present, needs to be controlled either by drugs (e.g. steroids) or by neurosurgical drainage (e.g. external drainage). The postoperative treatment depends on age, histological variant, and result of staging assessments. In children older than 3-5 years, combinations of chemotherapy and craniospinal irradiation are applied. In younger children, brain sparing therapies avoiding irradiation can be administered in very specific constellations. Prognosis The overall survival rates are now 80% in standard risk patients, and 30-60 % in high-risk patients. Relapses occur in nearly 75% of pediatric cases within 2 years. Visit the Orphanet disease page for more resources.

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

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

KEGG : 36 Medulloblastoma is the most common embryonal CNS tumor of childhood and is likely composed of biologically different subsets of tumors arising from stem and/or progenitor cells of the cerebellum. Recently, four distinct molecular subgroups of medulloblastoma have been identified [WNT (wingless), SHH (sonic hedgehog), Group 3, and Group 4]. Nearly all (90 %) of WNT patients have somatic missense mutations in CTNNB1 which promote protein stabilization. Alterations in SHH subgroup most often fall within the Shh signalling pathway. The most common are somatic or germline inactivating alterations or loss of PTCH1 and SUFU, or somatic missense mutations activating SMO. Group 3 tumors are characterized by MYC amplification resulting in high MYC mRNA expression levels compared with SHH and Group 4 tumors.The most frequently mutated somatic gene in Group 4 medulloblastoma is KDM6A, a histone H3 Lys27 (H3K27) demethylase.

UniProtKB/Swiss-Prot : 73 Medulloblastoma: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

Wikipedia : 74 Medulloblastoma is the most common type of primary brain cancer in children. It originates in the part... 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 641)
# Related Disease Score Top Affiliating Genes
1 childhood medulloblastoma 35.5 TP53 SUFU PTCH1 CTNNB1
2 nodular medulloblastoma 35.2 SUFU PTCH2 PTCH1
3 melanotic medulloblastoma 35.0 SUFU PTCH1
4 basal cell nevus syndrome 34.7 TP53 SUFU SMO PTCH2 PTCH1 CTNNB1
5 glioblastoma multiforme 32.9 TP53 PIK3CA NRAS IDH1 FGFR1 CTNNB1
6 basal cell carcinoma 32.7 TP53 SUFU SMO PTCH2 PTCH1 CTNNB1
7 neuroblastoma 32.7 TP53 PTCH1 PIK3CA NRAS MIR34A MIR17
8 meningioma, familial 32.6 TP53 SUFU PTCH1 PIK3CA MIR34A IDH1
9 li-fraumeni syndrome 32.2 WRN TP53 SUFU PTCH1 IDH1 CTNNB1
10 brain cancer 32.2 TP53 PTCH1 PIK3CA NRAS MIR19A MIR18A
11 glioma susceptibility 1 32.0 TP53 PIK3CA NRAS MIR34A MIR326 IDH1
12 atypical teratoid rhabdoid tumor 32.0 TP53 CTNNB1 BRCA2
13 glioma 31.9 TP53 PIK3CA MIR34A MIR20A MIR19A MIR17
14 hydrocephalus 31.8 TP53 PTCH1 NRAS FGFR1
15 cerebellum cancer 31.7 TP53 PTCH1 IDH1
16 adenocarcinoma 31.6 TP53 PIK3CA FGFR1 CTNNB1 BRCA2
17 carcinosarcoma 31.6 TP53 PIK3CA CTNNB1
18 leukemia, acute myeloid 31.5 TP53 PIK3CA NRAS MIR34A MIR326 MIR324
19 medullomyoblastoma 31.4 SUFU SMO
20 breast carcinoma in situ 31.4 TP53 PIK3CA FGFR1 CTNNB1 BRCA2
21 thyroid gland cancer 31.3 TP53 PTCH1 PIK3CA NRAS MIR17 CTNNB1
22 skin carcinoma 31.3 TP53 SUFU PTCH1 NRAS CTNNB1
23 pancreatic cancer 31.3 TP53 SMO PTCH1 PIK3CA MIR34A MIR20A
24 brain stem glioma 31.2 TP53 PIK3CA IDH1 FGFR1
25 basal cell carcinoma 1 31.2 SMO PTCH2 PTCH1
26 focal dermal hypoplasia 31.1 SUFU PTCH2 PTCH1
27 rectum adenocarcinoma 31.1 TP53 PIK3CA CTNNB1
28 in situ carcinoma 31.0 TP53 PIK3CA MIR17 CTNNB1 BRCA2
29 gastric cancer 31.0 TP53 PTCH1 PIK3CA NRAS MIR34A MIR20A
30 craniopharyngioma 31.0 SUFU PTCH1 CTNNB1
31 nevus, epidermal 31.0 PIK3CA NRAS FGFR1
32 cowden syndrome 31.0 TP53 PIK3CA MIR19A CTNNB1 BRCA2
33 lynch syndrome 31.0 TP53 PIK3CA MIR17 CTNNB1 BRCA2
34 infratentorial cancer 30.9 TP53 SUFU PTCH2 PTCH1 MIR324 MIR20A
35 melanoma 30.9 TP53 PIK3CA NRAS MIR34A MIR324 MIR19A
36 ductal carcinoma in situ 30.9 TP53 PIK3CA MIR17 BRCA2
37 nasopharyngeal carcinoma 30.8 TP53 PIK3CA NRAS MIR324 MIR17 FGFR1
38 renal cell carcinoma, nonpapillary 30.7 TP53 PIK3CA NRAS MIR34A MIR18A MIR17
39 myeloma, multiple 30.7 TP53 NRAS MIR19A MIR17 IDH1 CTNNB1
40 keratosis 30.7 TP53 PIK3CA CTNNB1
41 endocrine gland cancer 30.5 MIR34A MIR324 MIR20A MIR18A MIR17
42 leukemia, chronic myeloid 30.4 TP53 NRAS MIR20A MIR19A MIR18A MIR17
43 ovarian disease 30.4 TP53 MIR17 CTNNB1 BRCA2
44 colorectal adenoma 30.4 TP53 MIR17 CTNNB1
45 central nervous system cancer 30.4 TP53 SUFU PTCH1 MIR34A MIR324 MIR19A
46 hepatocellular carcinoma 30.3 TP53 PTCH1 PIK3CA NRAS MIR34A MIR324
47 lung cancer 30.2 TP53 PIK3CA NRAS MIR34A MIR324 MIR20A
48 central nervous system disease 30.1 MIR34A MIR324 MIR18A MIR17
49 nervous system disease 29.8 MIR34A MIR324 MIR20A MIR19A MIR18A MIR17
50 hematologic cancer 29.8 TP53 MIR34A MIR324 MIR20A MIR19A MIR18A

Graphical network of the top 20 diseases related to Medulloblastoma:



Diseases related to Medulloblastoma
Sources

Symptoms & Phenotypes for Medulloblastoma

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Human phenotypes related to Medulloblastoma:

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

Symptoms via clinical synopsis from OMIM:

56
Neoplasia:
medulloblastoma

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

Clinical features from OMIM:

155255

UMLS symptoms related to Medulloblastoma:


vomiting, headache, gait ataxia, cerebellar ataxia/dyskinesia

MGI Mouse Phenotypes related to Medulloblastoma:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 CTNNB1 FGFR1 NRAS PIK3CA PTCH1 PTCH2
2 immune system MP:0005387 10.2 BRCA2 CTNNB1 FGFR1 IDH1 NRAS PIK3CA
3 digestive/alimentary MP:0005381 10.19 BRCA2 CTNNB1 FGFR1 NRAS PTCH1 PTCH2
4 integument MP:0010771 10.17 BRCA2 CTNNB1 FGFR1 NRAS PIK3CA PTCH1
5 embryo MP:0005380 10.13 BRCA2 CTNNB1 FGFR1 NRAS PIK3CA PTCH1
6 craniofacial MP:0005382 10.11 CTNNB1 FGFR1 NRAS PTCH1 SMO SUFU
7 limbs/digits/tail MP:0005371 10.06 BRCA2 CTNNB1 FGFR1 NRAS PTCH1 SMO
8 neoplasm MP:0002006 10.02 BRCA2 CTNNB1 NRAS PIK3CA PTCH1 PTCH2
9 normal MP:0002873 9.91 BRCA2 CTNNB1 FGFR1 NRAS PTCH1 PTCH2
10 no phenotypic analysis MP:0003012 9.87 CTNNB1 FGFR1 NRAS PIK3CA PTCH1 SUFU
11 skeleton MP:0005390 9.7 BRCA2 CTNNB1 FGFR1 IDH1 NRAS PIK3CA
12 pigmentation MP:0001186 9.55 CTNNB1 NRAS PTCH1 SUFU TP53
13 vision/eye MP:0005391 9.28 CTNNB1 FGFR1 NRAS PIK3CA PTCH1 SMO
Sources

Drugs & Therapeutics for Medulloblastoma

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

(show top 50) (show all 283)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
2
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
3
Metformin Approved Phase 3 657-24-9 14219 4091
4
Donepezil Approved Phase 3 120014-06-4 3152
5
Ondansetron Approved Phase 3 99614-02-5 4595
6
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
8
Lomustine Approved, Investigational Phase 2, Phase 3 13010-47-4 3950
9
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
10 Grape Approved Phase 3
11 Cranberry Approved, Investigational Phase 3
12
Daunorubicin Approved Phase 3 20830-81-3 30323
13
Histamine Approved, Investigational Phase 3 51-45-6 774
14
Cyproheptadine Approved Phase 3 129-03-3 2913
15 Trofosfamide Investigational Phase 2, Phase 3 22089-22-1
16 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
17
Camptothecin Experimental Phase 3 7689-03-4
18 Antiemetics Phase 3
19 Analgesics Phase 3
20 Liver Extracts Phase 3
21 Hypoglycemic Agents Phase 3
22 Cholinesterase Inhibitors Phase 3
23 Cholinergic Agents Phase 3
24 Anesthetics Phase 3
25 Emetics Phase 3
26 Cola Phase 3
27 Narcotics Phase 3
28 Analgesics, Opioid Phase 3
29 Anesthetics, General Phase 3
30 Anesthetics, Intravenous Phase 3
31 Podophyllotoxin Phase 3 518-28-5
32 Vaccines Phase 3
33 Antibiotics, Antitubercular Phase 3
34
Liposomal doxorubicin Phase 3 31703
35 Immunoglobulins Phase 3
36 Antibodies Phase 3
37 Antibodies, Monoclonal Phase 3
38 Gastrointestinal Agents Phase 3
39 Neurotransmitter Agents Phase 3
40 Histamine Antagonists Phase 3
41 Anti-Allergic Agents Phase 3
42
Histamine Phosphate Phase 3 51-74-1 65513
43 Histamine H1 Antagonists Phase 3
44
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
45
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
46
Aminolevulinic acid Approved Phase 1, Phase 2 106-60-5 137
47
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
48
Isotretinoin Approved Phase 2 4759-48-2 5282379 5538
49
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 6857599 5310940 9887054
50
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062

Interventional clinical trials:

(show top 50) (show all 387)
# Name Status NCT ID Phase Drugs
1 HeadStart4: Newly Diagnosed Children (<10 y/o) With Medulloblastoma and Other CNS Embryonal Tumors Clinical and Molecular Risk-Tailored Intensive and Compressed Induction Chemotherapy Followed by Consolidation With Randomization to Either Single Cycle or to Three Tandem Cycles of Marrow-Ablative Chemotherapy With Autologous Hematopoietic Progenitor Cell Rescue Recruiting NCT02875314 Phase 4 Induction;Single Cycle Intensive Chemotherapy;Tandem 3 Cycle Intensive Chemotherapy
2 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Unknown status NCT01987596 Phase 3
3 A Prospective Randomised Controlled Trial Of Hyperfractionated Versus Conventionally Fractionated Radiotherapy In Standard Risk Medulloblastoma Unknown status NCT00053872 Phase 3 cisplatin;lomustine;vincristine sulfate
4 Phase II Prospective Study of Sequential Myeloablative Chemotherapy With Stem Cell Rescue for the Treatment of Selected High Risk CNS Tumors and Recurrent CNS Tumors Unknown status NCT00179803 Phase 2, Phase 3
5 Dose Intensive Chemotherapy for Children Less Than Ten Years of Age Newly-Diagnosed With Malignant Brain Tumors: A Pilot Study of Two Alternative Intensive Induction Chemotherapy Regimens, Followed by Consolidation With Myeloablative Chemotherapy (Thiotepa and Carboplatin, With or Without Etoposide) and Autologous Stem Cell Rescue [HEAD START III] Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
6 Systemic Chemotherapy, Second Look Surgery and Conformal Radiation Therapy Limited to the Posterior Fossa and Primary Site for Children &gt;/= to 8 Months and &lt;3 Years With Non-metastatic Medulloblastoma: A Children&Apos;s Oncology Group Phase III Study Completed NCT00006461 Phase 3 cisplatin;cyclophosphamide;vincristine sulfate;etoposide
7 Therapy-Optimization Trial and Phase II Study for the Treatment of Relapsed or Refractory of Primitive Neuroectodermal Brain Tumors and Ependymomas in Children and Adolescents Completed NCT00749723 Phase 2, Phase 3 carboplatin;etoposide;temozolomide;thiotepa, carboplatin, etoposide;temozolomide, thiotepa;intraventricular etoposide;trofosfamide, etoposide
8 Trial of Chemotherapy Utilizing Carboplatin, Vincristine, Cyclophosphamide and Etoposide for the Treatment of Central Nervous System Primitive Neurectodermal Tumors of Childhood Completed NCT00003859 Phase 3 carboplatin;cyclophosphamide;etoposide;vincristine sulfate
9 Placebo Controlled Double Blind Crossover Trial of Metformin for Brain Repair in Children With Cranial-Spinal Radiation for Medulloblastoma Completed NCT02040376 Phase 3 Metformin;Placebo
10 Phase III Prospective Randomized Study of Craniospinal RT Followed by One of Two Adjuvant Chemotherapy Regimens (CCNU, CDDP, VCR OR CPM, CDDP, VCR) for Newly-Diagnosed Average Risk MedulloblastomaMEDULLOBLASTOMA Completed NCT00002875 Phase 3 cisplatin;cyclophosphamide;lomustine;mesna;vincristine sulfate
11 A Randomized Phase III Study of Sodium Thiosulfate for the Prevention of Cisplatin-Induced Ototoxicity in Children Completed NCT00716976 Phase 3 sodium thiosulfate
12 Phase III Double Blind, Placebo Controlled Study of Donepezil in the Irradiated Brain Completed NCT00369785 Phase 3 donepezil hydrochloride;Placebo
13 Randomized Controlled Trial of Acupressure to Control Chemotherapy-Induced Nausea (CIN) in Children Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
14 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
15 An International Prospective Study on Clinically Standard-risk Medulloblastoma in Children Older Than 3 to 5 Years With Low-risk Biological Profile (PNET 5 MB-LR) or Average-risk Biological Profile (PNET 5 MB-SR) Recruiting NCT02066220 Phase 2, Phase 3 Reduced-intensity maintenance chemotherapy;Maintenance chemotherapy
16 A Phase III Randomized Trial for the Treatment of Newly Diagnosed Supratentorial PNET and High Risk Medulloblastoma in Children &lt;36 Months Old With Intensive Induction Chemotherapy With Methotrexate Followed by Consolidation With Stem Cell Rescue Versus the Same Therapy Without Methotrexate Active, not recruiting NCT00336024 Phase 3 etoposide;cyclophosphamide;cisplatin;carboplatin;thiotepa;methotrexate;leucovorin calcium;vincristine sulfate
17 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
18 A Multi-Center Phase III, Randomized, Open-Label Trial of Vigil (Bi-shRNAfurin and GMCSF Augmented Autologous Tumor Cell Immunotherapy) in Combination With Irinotecan and Temozolomide as a Second-Line Regimen for Ewing's Sarcoma Active, not recruiting NCT03495921 Phase 3 Irinotecan;Temozolomide
19 A Phase III Randomized Trial of Adding Vincristine-Topotecan-Cyclophosphamide to Standard Chemotherapy in Initial Treatment of Non-Metastatic Ewing Sarcoma Active, not recruiting NCT01231906 Phase 3 Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Ifosfamide;Topotecan Hydrochloride;Vincristine Sulfate
20 Randomized Phase 3 Trial Evaluating the Addition of the IGF-1R Monoclonal Antibody Ganitumab (AMG 479, NSC# 750008) to Multiagent Chemotherapy for Patients With Newly Diagnosed Metastatic Ewing Sarcoma Active, not recruiting NCT02306161 Phase 3 Cyclophosphamide;Doxorubicin;Doxorubicin Hydrochloride;Etoposide;Etoposide Phosphate;Ifosfamide;Vincristine;Vincristine Sulfate
21 A Prospective Randomised Controlled Trial of Hyperfractionated Versus Conventionally Fractionated Radiotherapy in Standard Risk Medulloblastoma Active, not recruiting NCT01351870 Phase 3
22 A Study Evaluating Limited Target Volume Boost Irradiation and Reduced Dose Craniospinal Radiotherapy (18.00 Gy) and Chemotherapy in Children With Newly Diagnosed Standard Risk Medulloblastoma: A Phase III Double Randomized Trial Active, not recruiting NCT00085735 Phase 3 Cisplatin;Cyclophosphamide;Lomustine;Vincristine Sulfate
23 Efficacy of Carboplatin Administered Concomitantly With Radiation and Isotretinoin as a Pro-Apoptotic Agent in Other Than Average Risk Medulloblastoma/PNET Patients Active, not recruiting NCT00392327 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Isotretinoin;Vincristine Sulfate
24 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
25 Treatment Protocol for High-Risk PNET Brain Tumors in Children With Surgery, Sequential Chemotherapy, Conventional and High-Dose With Peripheral Blood Stem Cell Transplantation and Radiation Therapy Unknown status NCT00180791 Phase 2 Etoposide, carboplatin, melphalan, cisplatin, thiotepa
26 Phase II Study of Vinorelbine + Cyclofosfamide Association Among Patients Reached of Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
27 A Randomized, Placebo-Controlled Pilot Study of Genistein Supplementation in Pediatric Cancer Patients Receiving Myelosuppressive Chemotherapy Unknown status NCT02624388 Phase 2 Genistein;Placebo
28 Hyperfractionated Accelerated Radiotherapy (HART) With Chemotherapy (Cisplatin, CCNU, Vincristine) for Non-Pineal Supratentorial Primitive Neuroectodermal Tumours Unknown status NCT00274911 Phase 2 cisplatin;lomustine;vincristine sulfate
29 Hyperfractionated Accelerated Radiotherapy (HART) With Chemotherapy (Cisplatin, CCNU, Vincristine) for Metastatic (M1-3) Medulloblastoma Unknown status NCT00276666 Phase 2 cisplatin;lomustine;vincristine sulfate
30 The Use of 5-aminolevulinic Acid (ALA) as an Intraoperative Tumor Marker for Resection of Pediatric CNS Tumors Unknown status NCT02050243 Phase 1, Phase 2 5ALA
31 Phase 2 Study of Radiation Therapy and Combination Chemotherapy Following Surgery in Treating Children With Newly Diagnosed Medulloblastoma Unknown status NCT02681705 Phase 2 Temozolomide
32 A Phase 2 Study of Aminolevulinic Acid (ALA) to Enhance Visualization and Resection of Malignant Glial Tumors of the Brain Unknown status NCT01403311 Phase 2 5-Aminolevuline Acid
33 A Prospective, Multicentre Trial on the Value of 18F-FET PET in the Post-therapeutic Evaluation of Childhood Brain Tumours Unknown status NCT03216148 Phase 2
34 Management of Children Aged Less Than 3 Years With Brain Tumors Unknown status NCT00281905 Phase 2 carboplatin;cisplatin;cyclophosphamide;methotrexate;vincristine sulfate
35 Feasibility of Using Concurrent Carboplatin and Reduced Dose Craniospinal Radiation (24Gy) for Metastatic Medulloblastoma, High-Risk Supratentorial PNET and Metastatic PNET Completed NCT01542736 Phase 2 Carboplatin;Vincristine
36 A Phase II Study of Pemetrexed in Children With Recurrent Malignancies Completed NCT00520936 Phase 2 pemetrexed
37 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
38 A Phase I/II Study of Local Field Irradiation and Temozolomide Followed by Continuous Infusion Plerixafor as an Upfront Therapy for Newly Diagnosed Glioblastoma GBM Completed NCT01977677 Phase 1, Phase 2 temozolomide;plerixafor
39 A Phase II Study of R115777 (Zarnestra) (NSC # 702818, IND# 58,359) in Children With Recurrent or Progressive: High Grade Glioma, Medulloblastoma/PNET or Brainstem Glioma Completed NCT00070525 Phase 2 tipifarnib
40 A Phase II Study of Oxaliplatin in Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumors and Atypical Teratoid Rhabdoid Tumors Completed NCT00047177 Phase 2 Oxaliplatin
41 Dose Intensive Chemotherapy for Patients Greater Than or Equal To 10 Years of Age With Newly Diagnosed High Stage Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumors (PNET) and Ependymoma: A Feasibility Study of an Intensive Induction Chemotherapy Regimen Followed by Standard Irradiation Completed NCT00006258 Phase 2 cisplatin;cyclophosphamide;etoposide;methotrexate;vincristine sulfate
42 Phase II Multicenter, Open-label, Clinical and Pharmacokinetic Study of Zalypsis® (PM00104) in Patients With Unresectable Locally Advanced and/or Metastatic Ewing Family of Tumors (EFT) Progressing After at Least One Prior Line of Chemotherapy Completed NCT01222767 Phase 2 Zalypsis
43 CAMP 013:- Tandem Thiotepa Regimen For Selected Malignant Gliomas:1) Primary Or Recurrent Glioblastoma Multiforme (GBM); and 2) Recurrent Anaplastic Astrocytomas (AA), Oligodendrogliomas (O), Oligoastrocytomas (OA), Ependymomas And Primitive Neuroectodermal Tumors (PNET) That Have Either Progressed After Primary Therapy Or Are Refractory To Standard Chemotherapy Completed NCT00008008 Phase 2 cyclophosphamide;thiotepa
44 Treatment of Newly Diagnosed Medulloblastoma and Supratentorial PNET in Patients At Least 3 Years With a Phase II Topotecan Window (High-Risk Patients Only), Risk-Adapted Radiation Therapy, and Dose-Intensive Chemotherapy With Peripheral Blood Stem Cell Support Completed NCT00003211 Phase 2 amifostine trihydrate;cisplatin;cyclophosphamide;vincristine sulfate
45 Phase II Study of Methotrexate, Mechlorethamine, Vincristine, Prednisone, and Procarbazine (MMOPP) as Primary Therapy in Infants or Young Children With Primitive Neuroectodermal Tumors or High-Grade Astrocytoma Completed NCT00002463 Phase 2 MOPP Regimen;Leucovorin Calcium;Mechlorethamine Hydrochloride;Methotrexate;Prednisone;Procarbazine Hydrochloride;Vincristine Sulfate
46 Multicenter Pilot-study for the Therapy of Medulloblastoma of Adults (NOA-07) Completed NCT01614132 Phase 1, Phase 2 maintenance chemotherapy (vincristin, cisplatin and CCNU)
47 Treatment of High Risk Central Nervous System Embryonal Tumors With Conventional Radiotherapy and Intensive Consolidation Chemotherapy With Peripheral Blood Progenitor Cell (PBSC) Support Completed NCT00003846 Phase 2 carboplatin;cyclophosphamide;thiotepa;vincristine sulfate
48 A Phase 2 Study of AMG 479 in Relapsed or Refractory Ewing's Family Tumor and Desmoplastic Small Round Cell Tumors Completed NCT00563680 Phase 2 AMG 479
49 A Phase II Study of Single Agent Depsipeptide (FK228) in Metastatic or Unresectable Soft Tissue Sarcomas Completed NCT00112463 Phase 2 romidepsin
50 A Phase II Study of Oxaliplatin in Children With Recurrent Solid Tumors Completed NCT00091182 Phase 2 oxaliplatin

Search NIH Clinical Center for Medulloblastoma

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Carmustine

Cochrane evidence based reviews: medulloblastoma

Sources

Genetic Tests for Medulloblastoma

About this section

Genetic tests related to Medulloblastoma:

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

Anatomical Context for Medulloblastoma

About this section

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

19
Lower Part Of The Brain

MalaCards organs/tissues related to Medulloblastoma:

40
Brain, Cerebellum, Bone, Bone Marrow, T Cells, Lung, Myeloid
Sources

Publications for Medulloblastoma

About this section

Articles related to Medulloblastoma:

(show top 50) (show all 7101)
# Title Authors PMID Year
1
APC mutations in sporadic medulloblastomas. 54 61 6 56
10666372 2000
2
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. 6 56 61
19833601 2010
3
Mutations in SUFU predispose to medulloblastoma. 56 6 61
12068298 2002
4
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. 6 56
15689453 2005
5
Bmi1 is essential for cerebellar development and is overexpressed in human medulloblastomas. 54 56 61
15029199 2004
6
BMP-2 mediates retinoid-induced apoptosis in medulloblastoma cells through a paracrine effect. 54 56 61
12872164 2003
7
Expression profiling of medulloblastoma: PDGFRA and the RAS/MAPK pathway as therapeutic targets for metastatic disease. 54 56 61
11544480 2001
8
Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. 61 54 6
9931336 1999
9
DMBT1, a new member of the SRCR superfamily, on chromosome 10q25.3-26.1 is deleted in malignant brain tumours. 54 61 56
9288095 1997
10
Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis. 54 56 61
1347196 1992
11
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma. 56 61
31664194 2019
12
The whole-genome landscape of medulloblastoma subtypes. 56 61
28726821 2017
13
Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. 56 61
22820256 2012
14
Novel mutations target distinct subgroups of medulloblastoma. 56 61
22722829 2012
15
Subgroup-specific structural variation across 1,000 medulloblastoma genomes. 56 61
22832581 2012
16
Dissecting the genomic complexity underlying medulloblastoma. 61 56
22832583 2012
17
The genetic landscape of the childhood cancer medulloblastoma. 61 56
21163964 2011
18
Subtypes of medulloblastoma have distinct developmental origins. 56 61
21150899 2010
19
Treatment of medulloblastoma with hedgehog pathway inhibitor GDC-0449. 61 56
19726761 2009
20
Identification of a SUFU germline mutation in a family with Gorlin syndrome. 6 61
19533801 2009
21
Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 56 61
19270706 2009
22
MicroRNA profiling in human medulloblastoma. 61 46 54
18973228 2009
23
Signaling pathways in medulloblastoma. 56 61
18651559 2008
24
Medulloblastoma in childhood: new biological advances. 56 61
18031705 2007
25
CIC, a gene involved in cerebellar development and ErbB signaling, is significantly expressed in medulloblastomas. 56 61
15981098 2005
26
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 61 6
14670928 2004
27
PDGFRB is overexpressed in metastatic medulloblastoma. 56 61
14593398 2003
28
Medulloblastoma growth inhibition by hedgehog pathway blockade. 56 61
12202832 2002
29
Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping. 56 61
10969942 2000
30
Induction of medulloblastomas in p53-null mutant mice by somatic inactivation of Rb in the external granular layer cells of the cerebellum. 56 61
10783170 2000
31
The molecular basis of Turcot's syndrome. 56 61
7661930 1995
32
Deletion mapping of the medulloblastoma locus on chromosome 17p. 56 61
1979050 1990
33
MicroRNA-34a inhibits glioblastoma growth by targeting multiple oncogenes. 61 46
19773441 2009
34
Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma. 46 61
19584924 2009
35
The miR-17/92 polycistron is up-regulated in sonic hedgehog-driven medulloblastomas and induced by N-myc in sonic hedgehog-treated cerebellar neural precursors. 46 61
19351822 2009
36
The miR-17~92 cluster collaborates with the Sonic Hedgehog pathway in medulloblastoma. 61 46
19196975 2009
37
MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. 46 61
19308264 2009
38
Concerted microRNA control of Hedgehog signalling in cerebellar neuronal progenitor and tumour cells. 61 46
18756266 2008
39
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 6
16825431 2007
40
Prediction of central nervous system embryonal tumour outcome based on gene expression. 56
11807556 2002
41
A common human skin tumour is caused by activating mutations in beta-catenin. 6
10192393 1999
42
Inhibition of Aurora Kinase A enhances chemosensitivity of medulloblastoma cell lines. 61 54
20232424 2010
43
Recurrence in medulloblastoma - influence of clinical, histological and immunohistochemical factors. 61 54
20465457 2010
44
Cross-talk between T-Ag presence and pRb family and p53/p73 signaling in mouse and human medulloblastoma. 54 61
20336668 2010
45
p53 Regulates LIF expression in human medulloblastoma cells. 54 61
19907922 2010
46
Differential roles of Trk and p75 neurotrophin receptors in tumorigenesis and chemoresistance ex vivo and in vivo. 54 61
19701634 2010
47
On the death Trk. 54 61
20186708 2010
48
Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations. 54 61
20142599 2010
49
Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation. 54 61
20081843 2010
50
Small-molecule inhibitors of phosphatidylinositol 3-kinase/Akt signaling inhibit Wnt/beta-catenin pathway cross-talk and suppress medulloblastoma growth. 54 61
20028853 2010
Sources

Variations for Medulloblastoma

About this section

ClinVar genetic disease variations for Medulloblastoma:

6 (show top 50) (show all 516) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NONO NM_007363.5(NONO):c.731dup (p.Asn244fs)duplication other 438778 rs1555950011 X:70516489-70516490 X:71296639-71296640
2 ARID1A NM_006015.6(ARID1A):c.2732G>T (p.Arg911Met)SNV other 438751 rs1553152166 1:27089776-27089776 1:26763285-26763285
3 ARID1B NM_017519.2(ARID1B):c.3306+1G>ASNV other 438752 rs1554231278 6:157502313-157502313 6:157181179-157181179
4 DDX3X NM_001356.4(DDX3X):c.1588G>T (p.Gly530Cys)SNV other 438759 rs1555954272 X:41205848-41205848 X:41346595-41346595
5 DDX3X NM_001356.4(DDX3X):c.1592G>A (p.Arg531His)SNV other 438760 rs1555954275 X:41205852-41205852 X:41346599-41346599
6 DDX3X NM_001356.4(DDX3X):c.1033G>C (p.Val345Leu)SNV other 438761 rs1555953796 X:41204440-41204440 X:41345187-41345187
7 FOXO3 NM_001455.4(FOXO3):c.699G>A (p.Trp233Ter)SNV other 438764 rs1554218944 6:108984735-108984735 6:108663532-108663532
8 SUFU NM_016169.3(SUFU):c.171dup (p.Val58fs)duplication Pathogenic 406395 rs1554840869 10:104264079-104264080 10:102504322-102504323
9 SUFU NM_016169.3(SUFU):c.436C>T (p.Arg146Ter)SNV Pathogenic 406388 rs1060501109 10:104309845-104309845 10:102550088-102550088
10 SUFU NM_016169.3(SUFU):c.341del (p.Ser114fs)deletion Pathogenic 406387 rs1060501108 10:104309750-104309750 10:102549993-102549993
11 SUFU NM_016169.3(SUFU):c.585_586dup (p.Thr196fs)duplication Pathogenic 453967 rs1554852279 10:104352468-104352469 10:102592711-102592712
12 SUFU NC_000010.11:g.(?_102593630)_(102597299_?)deldeletion Pathogenic 524681 10:104353387-104357056 10:102593630-102597299
13 PTCH1 NM_000264.5(PTCH1):c.2244del (p.Ala749fs)deletion Pathogenic 571864 rs1564032829 9:98231039-98231039 9:95468757-95468757
14 SUFU NM_016169.3(SUFU):c.175A>T (p.Lys59Ter)SNV Pathogenic 581907 rs1564654588 10:104264084-104264084 10:102504327-102504327
15 SUFU NM_016169.3(SUFU):c.824G>A (p.Trp275Ter)SNV Pathogenic 578241 rs1564698683 10:104356964-104356964 10:102597207-102597207
16 SUFU NM_016169.3(SUFU):c.846dup (p.Glu283fs)duplication Pathogenic 570890 rs1477199832 10:104356980-104356981 10:102597223-102597224
17 SUFU NM_016169.3(SUFU):c.649_661del (p.Gln217fs)deletion Pathogenic 643519 10:104353442-104353454 10:102593685-102593697
18 SUFU NC_000010.11:g.(?_102504143)_(102550116_?)deldeletion Pathogenic 646409 10:104263900-104309873 10:102504143-102550116
19 SUFU NM_016169.3(SUFU):c.895_896insTGTGT (p.Arg299fs)insertion Pathogenic 573948 rs1564698850 10:104357035-104357036 10:102597278-102597279
20 SUFU NC_000010.11:g.(?_102549960)_(102550116_?)deldeletion Pathogenic 664441 10:104309717-104309873 10:102549960-102550116
21 SUFU NM_016169.4(SUFU):c.892del (p.Arg298fs)deletion Pathogenic 852072 10:104357029-104357029 10:102597272-102597272
22 SUFU NM_016169.4(SUFU):c.124dup (p.Arg42fs)duplication Pathogenic 858345 10:104264031-104264032 10:102504274-102504275
23 SUFU NM_016169.4(SUFU):c.811_818dup (p.Cys273fs)duplication Pathogenic 839802 10:104356950-104356951 10:102597193-102597194
24 SUFU NM_016169.4(SUFU):c.847dup (p.Glu283fs)duplication Pathogenic 863146 10:104356986-104356987 10:102597229-102597230
25 SUFU NM_016169.3(SUFU):c.44C>T (p.Pro15Leu)SNV Pathogenic 3569 rs28942088 10:104263953-104263953 10:102504196-102504196
26 SUFU NM_016169.3(SUFU):c.143dup (p.Pro49fs)duplication Pathogenic 3570 10:104264051-104264052 10:102504294-102504295
27 SUFU NM_016169.3(SUFU):c.1022+1G>ASNV Pathogenic 3571 rs587776578 10:104359302-104359302 10:102599545-102599545
28 SUFU SUFU, 2.5-Mb DELdeletion Pathogenic 3572
29 SUFU NM_016169.3(SUFU):c.71del (p.Pro24fs)deletion Pathogenic 3573 rs587776579 10:104263974-104263974 10:102504217-102504217
30 SUFU NM_016169.3(SUFU):c.71dup (p.Ala25fs)duplication Pathogenic 3574 10:104263973-104263974 10:102504216-102504217
31 BRCA2 NM_000059.3(BRCA2):c.658_659del (p.Val220fs)deletion Pathogenic 9342 rs80359604 13:32903605-32903606 13:32329468-32329469
32 BRCA2 NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)SNV Pathogenic 9346 rs80358785 13:32914137-32914137 13:32340000-32340000
33 TP53 NM_000546.6(TP53):c.742C>T (p.Arg248Trp)SNV Pathogenic 12347 rs121912651 17:7577539-7577539 17:7674221-7674221
34 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln)SNV Pathogenic 12356 rs11540652 17:7577538-7577538 17:7674220-7674220
35 TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His)SNV Pathogenic 12366 rs28934576 17:7577120-7577120 17:7673802-7673802
36 PIK3CA NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)SNV Pathogenic 13652 rs121913279 3:178952085-178952085 3:179234297-179234297
37 PIK3CA NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)SNV Pathogenic 13653 rs121913279 3:178952085-178952085 3:179234297-179234297
38 NRAS NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)SNV Pathogenic 13901 rs121434596 1:115258744-115258744 1:114716123-114716123
39 BRCA2 NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)SNV Pathogenic 37819 rs80358557 13:32911601-32911601 13:32337464-32337464
40 BRCA2 NM_000059.3(BRCA2):c.4243G>T (p.Glu1415Ter)SNV Pathogenic 37890 rs397507327 13:32912735-32912735 13:32338598-32338598
41 BRCA2 NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)SNV Pathogenic 37936 rs80358721 13:32913457-32913457 13:32339320-32339320
42 BRCA2 NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)SNV Pathogenic 37989 rs41293497 13:32914174-32914174 13:32340037-32340037
43 BRCA2 NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)SNV Pathogenic 38076 rs80358920 13:32920978-32920978 13:32346841-32346841
44 BRCA2 NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)SNV Pathogenic 38099 rs80358972 13:32930609-32930609 13:32356472-32356472
45 BRCA2 NM_000059.4(BRCA2):c.8488-1G>ASNV Pathogenic 38164 rs397507404 13:32945092-32945092 13:32370955-32370955
46 BRCA2 NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)SNV Pathogenic 38215 rs28897756 13:32954050-32954050 13:32379913-32379913
47 BRCA2 NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)SNV Pathogenic 38229 rs80359200 13:32968863-32968863 13:32394726-32394726
48 PIK3CA NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)SNV Pathogenic 45466 rs397517201 3:178936095-178936095 3:179218307-179218307
49 BRCA2 NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)SNV Pathogenic 51041 rs80358391 13:32893246-32893246 13:32319109-32319109
50 BRCA2 NM_000059.3(BRCA2):c.1399A>T (p.Lys467Ter)SNV Pathogenic 51118 rs80358427 13:32907014-32907014 13:32332877-32332877

UniProtKB/Swiss-Prot genetic disease variations for Medulloblastoma:

73
# Symbol AA change Variation ID SNP ID
1 APC p.Ala1296Val VAR_017653 rs129151303
2 APC p.Val1472Ile VAR_017654 rs878853445
3 APC p.Ser1495Gly VAR_017655
4 CTNNB1 p.Ser33Phe VAR_017617 rs121913400
5 CTNNB1 p.Ser37Ala VAR_017624 rs121913228

Cosmic variations for Medulloblastoma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM144091386 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.65G>A p.R22H 17:7675070-7675070 8

Copy number variations for Medulloblastoma from CNVD:

7 (show top 50) (show all 406)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13756 1 1 27800000 Deletion Medulloblastoma
2 13826 1 1 84700000 Deletion Medulloblastoma
3 13834 1 1 94500000 Deletion Medulloblastoma
4 14508 1 109116339 109116457 Amplification Medulloblastoma
5 15075 1 112496243 112497197 Deletion Medulloblastoma
6 16439 1 124300000 247249719 Gain Medulloblastoma
7 16481 1 125000000 249250621 Gain Medulloblastoma
8 18169 1 144250173 193504146 Gain Medulloblastoma
9 22567 1 167495768 167505182 Deletion Medulloblastoma
10 25322 1 187353840 187354239 Amplification Medulloblastoma
11 25794 1 194888508 194889123 Amplification Medulloblastoma
12 27709 1 211370717 247249719 Gain Medulloblastoma
13 28242 1 220443401 220443721 Deletion Medulloblastoma
14 29306 1 2300000 57866667 Deletion Medulloblastoma
15 29307 1 2300000 68700000 Deletion Medulloblastoma
16 31250 1 26333039 26333369 Deletion Medulloblastoma
17 31487 1 27800000 120700000 Deletion Medulloblastoma
18 31730 1 30200000 63811651 Gain Medulloblastoma
19 32194 1 34400000 43900000 Amplification Medulloblastoma
20 32220 1 34600000 44100000 Copy number 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 translocation PCDH15 Medulloblastoma
42 44628 10 60813485 133778458 Loss Medulloblastoma
43 44902 10 64800000 135374737 Deletion Medulloblastoma
44 45281 10 69738803 69739239 Deletion Medulloblastoma
45 47498 10 94192885 94194314 Deletion Medulloblastoma
46 48314 11 1 134452384 Deletion Medulloblastoma
47 48316 11 1 134452384 Gain Medulloblastoma
48 48367 11 1 36400000 Deletion Medulloblastoma
49 48483 11 1 48800000 Deletion Medulloblastoma
50 48690 11 101740351 101781327 Deletion BIRC2 Medulloblastoma
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:

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 25)
# Super pathways Score Top Affiliating Genes
1
G-Beta Gamma Signaling 63
Show member pathways
 12.96 SUFU SMO PTCH2 PTCH1 NRAS CTNNB1
2
Endometrial cancer 36
Show member pathways
 12.79 TP53 PIK3CA NRAS FGFR1 CTNNB1 BRCA2
3
Gastric cancer 36
Show member pathways
 12.64 TP53 PIK3CA NRAS FGFR1 CTNNB1 BRCA2
4
Glioma 36
Show member pathways
 12.59 TP53 PIK3CA NRAS FGFR1 BRCA2
5
VEGF Signaling 66
Show member pathways
 12.42 TP53 PIK3CA NRAS FGFR1 CTNNB1
6
Pathways in cancer 36
12.38 TP53 SUFU SMO PTCH2 PTCH1 PIK3CA
7
Apoptosis Pathway 70
Show member pathways
 12.33 TP53 PIK3CA NRAS FGFR1 CTNNB1
8
DNA Damage Response 1
Show member pathways
 12.25 TP53 MIR20A MIR19A MIR18A MIR17
9
Wnt / Hedgehog / Notch 4
12.17 SUFU PTCH2 PTCH1 CTNNB1
10
Axon guidance 36
12.16 SMO PTCH1 PIK3CA NRAS
11
Translation Non-genomic (rapid) action of Androgen Receptor 22
Show member pathways
 12.12 TP53 SUFU SMO PTCH2 PTCH1 PIK3CA
12
Signaling pathways regulating pluripotency of stem cells 36
12.03 PIK3CA NRAS FGFR1 CTNNB1
13
Proteoglycans in cancer 36
12.01 TP53 SMO PTCH1 PIK3CA NRAS FGFR1
14
Thyroid hormone signaling pathway 36
11.92 TP53 PIK3CA NRAS CTNNB1
15
DNA Damage Response (only ATM dependent) 1
11.89 TP53 PIK3CA NRAS CTNNB1
16
MicroRNAs in cancer 36
11.85 TP53 PIK3CA NRAS MIR34A MIR326 MIR324
17
FGFR1 mutant receptor activation 65
Show member pathways
 11.75 PIK3CA NRAS FGFR1
18
VEGF Pathway (Tocris) 60
Show member pathways
 11.71 PIK3CA NRAS FGFR1
19
Parkinsons Disease Pathway 1
11.68 MIR20A MIR19A MIR18A MIR17
20
Central carbon metabolism in cancer 36
11.61 TP53 PIK3CA NRAS IDH1 FGFR1
21
Hedgehog signaling pathway (KEGG) 36
11.43 SUFU SMO PTCH2 PTCH1
22
Hedgehog signaling events mediated by Gli proteins 1
11.4 SUFU SMO PTCH1
23
N-cadherin signaling events 1
11.24 PIK3CA FGFR1 CTNNB1
24
Signaling events mediated by the Hedgehog family 1
Show member pathways
 11.18 SMO PTCH2 PTCH1 PIK3CA
25
Hedgehog Signaling Pathway (WikiPathways) 1
Show member pathways
 10.9 SUFU SMO PTCH2 PTCH1
Sources

GO Terms for Medulloblastoma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular vesicle GO:1903561 8.92 MIR34A MIR20A MIR19A MIR17

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.1 TP53 SUFU SMO PTCH1 FGFR1 CTNNB1
2 brain development GO:0007420 9.94 WRN PTCH1 FGFR1 BRCA2
3 regulation of cell proliferation GO:0042127 9.9 TP53 PTCH1 FGFR1 CTNNB1
4 in utero embryonic development GO:0001701 9.83 TP53 SMO PTCH1 FGFR1 CTNNB1
5 gene silencing by miRNA GO:0035195 9.8 MIR34A MIR326 MIR20A MIR19A MIR199B MIR18A
6 double-strand break repair GO:0006302 9.77 WRN TP53 BRCA2
7 embryonic organ development GO:0048568 9.74 TP53 SMO PTCH1
8 skin development GO:0043588 9.73 SUFU PTCH2 CTNNB1
9 dorsal/ventral pattern formation GO:0009953 9.72 SMO PTCH1 CTNNB1
10 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.71 MIR20A MIR19A MIR199B
11 cell aging GO:0007569 9.67 WRN TP53 BRCA2
12 mammary gland epithelial cell differentiation GO:0060644 9.66 SMO PTCH1
13 smooth muscle tissue development GO:0048745 9.65 SMO PTCH1
14 dorsal/ventral neural tube patterning GO:0021904 9.65 SMO PTCH1
15 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.65 TP53 BRCA2
16 negative regulation of smoothened signaling pathway GO:0045879 9.65 SUFU PTCH2 PTCH1
17 negative regulation of matrix metallopeptidase secretion GO:1904465 9.64 MIR19A MIR199B
18 commissural neuron axon guidance GO:0071679 9.63 SMO PTCH1
19 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.63 MIR20A MIR17
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.63 SMO FGFR1 CTNNB1
21 negative regulation of gene expression GO:0010629 9.63 TP53 SMO MIR20A MIR17 FGFR1 CTNNB1
22 positive regulation of B cell receptor signaling pathway GO:0050861 9.62 MIR19A MIR18A
23 smoothened signaling pathway GO:0007224 9.62 SUFU SMO PTCH2 PTCH1
24 response to UV-C GO:0010225 9.61 WRN BRCA2
25 lung-associated mesenchyme development GO:0060484 9.61 FGFR1 CTNNB1
26 positive regulation of epidermal cell differentiation GO:0045606 9.58 PTCH2 PTCH1
27 chordate embryonic development GO:0043009 9.58 FGFR1 BRCA2
28 positive regulation of cardiac muscle cell apoptotic process GO:0010666 9.58 TP53 MIR34A MIR17
29 cell fate determination GO:0001709 9.54 PTCH2 PTCH1 CTNNB1
30 positive regulation of pulmonary blood vessel remodeling GO:1905111 9.52 MIR20A MIR17
31 epidermal cell fate specification GO:0009957 9.51 PTCH2 PTCH1
32 negative regulation of vascular endothelial growth factor production GO:1904046 9.26 MIR34A MIR20A MIR199B MIR17
33 negative regulation of sprouting angiogenesis GO:1903671 9.02 MIR34A MIR20A MIR19A MIR18A MIR17

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

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 9.32 SMO PTCH1
2 hedgehog family protein binding GO:0097108 9.26 PTCH2 PTCH1
3 hedgehog receptor activity GO:0008158 9.16 PTCH2 PTCH1
4 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.1 MIR34A MIR20A MIR19A MIR199B MIR18A MIR17
5 smoothened binding GO:0005119 8.96 PTCH2 PTCH1
Sources

Sources for Medulloblastoma

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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