MCID: MDL005
MIFTS: 73

Medulloblastoma

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

Aliases & Classifications for Medulloblastoma

MalaCards integrated aliases for Medulloblastoma:

Name: Medulloblastoma 54 12 50 56 71 29 13 52 42 14 69
Localized Primitive Neuroectodermal Tumor 12 69
Classic Medulloblastoma 56 69
Cpnet 12 69
Mdb 50 71
Infratentorial Primitive Neuroectodermal Tumor 12
Medulloblastoma, with Extensive Nodularity 69
Medulloblastoma with Extensive Nodularity 56
Desmoplastic/nodular Medulloblastoma 56
Neuroectodermal Tumors, Primitive 42
Medulloblastoma, Desmoplastic 54
Medulloblastoma Desmoplastic 52
Desmoplastic Medulloblastoma 69
Medulloblastoma, Somatic 54
Brain Medulloblastoma 12
Cns Pnet 12
Mben 56

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal dominant
autosomal recessive
somatic

Miscellaneous:
incomplete penetrance


HPO:

32
medulloblastoma:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 155255
Disease Ontology 12 DOID:0050902
ICD10 via Orphanet 34 C71.6
UMLS via Orphanet 70 C0751291 C0025149
MESH via Orphanet 43 D008527

Summaries for Medulloblastoma

NIH Rare Diseases : 50 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 localized primitive neuroectodermal tumor, is related to childhood medulloblastoma and melanotic medulloblastoma, and has symptoms including headache, vomiting and gait ataxia. An important gene associated with Medulloblastoma is SUFU (SUFU Negative Regulator Of Hedgehog Signaling), and among its related pathways/superpathways are ERK Signaling and Activation of cAMP-Dependent PKA. 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 Decreased viability in esophageal squamous lineage and Increased vaccinia virus (VACV) infection

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 : 54
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 Medulloblastoma, Ptch2-Related
Medulloblastoma, Sufu-Related

Diseases related to Medulloblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 202)
id Related Disease Score Top Affiliating Genes
1 childhood medulloblastoma 34.4 GFAP GLI1 MYCN PTCH1 SUFU TP53
2 melanotic medulloblastoma 34.3 GFAP MYC MYCN OTX2 TP53
3 basal cell nevus syndrome 33.4 GLI1 PTCH1 PTCH2 SMO SUFU
4 mismatch repair cancer syndrome 33.2 APC CTNNB1 MYCN
5 large cell medulloblastoma 12.1
6 adult medulloblastoma 12.0
7 cerebellar medulloblastoma 11.9
8 nodular medulloblastoma 11.9
9 cerebellar vermis medulloblastoma 11.9
10 brain stem medulloblastoma 11.7
11 medulloblastoma, sufu-related 11.7
12 anaplastic/large cell medulloblastoma 11.7
13 medulloblastoma, ptch2-related 11.7
14 basal cell carcinoma 1 11.2 PTCH1 PTCH2 SMO
15 anencephaly 11.2 APC CTNNB1
16 hemoglobinemia 11.1 CTNNB1 GFAP MYC
17 maxillary neoplasm 11.1 APC CTNNB1 TP53
18 desmoid disease, hereditary 11.1 APC CTNNB1 MYC
19 pancoast tumor 11.1 GFAP TP53
20 cerebellar liponeurocytoma 11.1
21 arrhythmogenic right ventricular cardiomyopathy 11.1 APC CTNNB1 MYC TP53
22 large intestine lipoma 11.1 GFAP PTCH1 SUFU TP53
23 gastric cancer, somatic 11.1 APC CTNNB1 MYC TP53
24 glycogen storage disease due to lactate dehydrogenase deficiency 11.1 CTNNB1 TP53
25 signet ring basal cell carcinoma 11.1 MYC PTCH1
26 brain stem astrocytic neoplasm 11.1 GFAP TP53
27 vulvar keratoacanthoma-like carcinoma 11.0 MYC MYCN TP53
28 devriendt syndrome 11.0 GFAP MYCN
29 functional colonic disease 11.0 CTNNB1 GFAP GLI1 PTCH1 SUFU
30 cystic lymphangioma 11.0 DMBT1 GFAP TP53
31 heavy chain disease 11.0 GLI1 PTCH1 TP53
32 autoimmune lymphoproliferative syndrome 11.0 GFAP PTCH1 SUFU TP53
33 oral antidiabetic drugs toxicity or dose selection 11.0 GLI1 PTCH1 SMO SUFU TP53
34 prostate embryonal rhabdomyosarcoma 11.0 GLI1 MYCN PTCH1
35 thrombophlebitis 11.0 ERBB4 MYC MYCN NTRK3 PTCH1 SUFU
36 camptocormism 11.0 PTCH1 TP53
37 giant cell glioblastoma 11.0 DMBT1 GFAP MYC TP53
38 bone squamous cell carcinoma 11.0 GLI1 PTCH1 SMO
39 renal pelvis urothelial papilloma 11.0 GFAP TP53
40 postmenopausal atrophic vaginitis 11.0 MYC MYCN TP53
41 adult central nervous system primitive neuroectodermal neoplasm 11.0
42 childhood central nervous system primitive neuroectodermal neoplasm 11.0
43 tendon sheath lipoma 11.0 GFAP TP53
44 cystadenoma 11.0 MYC MYCN TP53
45 prostate rhabdomyosarcoma 10.9 GLI1 MYCN PTCH1 TP53
46 small cell sarcoma 10.9 GLI1 MYC MYCN PTCH1 TP53
47 nodular goiter 10.9 CTNNB1 DMBT1 GFAP MYCN PTCH1 TP53
48 rhabdoid tumors, somatic 10.9
49 orchitis 10.9 CTNNB1 GLI1 PTCH1 PTCH2 SMO SUFU
50 gallbladder cancer 10.9 CTNNB1 MYC TP53

Graphical network of the top 20 diseases related to Medulloblastoma:



Diseases related to Medulloblastoma

Symptoms & Phenotypes for Medulloblastoma

Symptoms via clinical synopsis from OMIM:

54

Neoplasia:
medulloblastoma

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


Clinical features from OMIM:

155255

Human phenotypes related to Medulloblastoma:

32
id Description HPO Frequency HPO Source Accession
1 medulloblastoma 32 HP:0002885

UMLS symptoms related to Medulloblastoma:


headache, vomiting, gait ataxia, cerebellar ataxia/dyskinesia

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.7 APC BRCA2 CTNNB1 DAB2IP DMBT1 GFAP
2 Increased vaccinia virus (VACV) infection GR00249-S 9.62 CDCA7L CTNNB1 DAB2IP DMBT1 ERBB4 GFAP

MGI Mouse Phenotypes related to Medulloblastoma:

44 (show all 25)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.46 MYCN OTX2 PTCH1 SMO TP53 APC
2 behavior/neurological MP:0005386 10.44 OTX2 PTCH1 TP53 ZIC1 APC BRCA2
3 digestive/alimentary MP:0005381 10.44 TP53 APC BRCA2 CTNNB1 DMBT1 GFAP
4 cardiovascular system MP:0005385 10.43 APC CTNNB1 ERBB4 GFAP MYC MYCN
5 growth/size/body region MP:0005378 10.42 APC BRCA2 CTNNB1 GFAP GLI1 MYC
6 mortality/aging MP:0010768 10.41 MYC MYCN NTRK3 OTX2 PTCH1 SMO
7 embryo MP:0005380 10.4 APC BRCA2 CTNNB1 DMBT1 ERBB4 GLI1
8 nervous system MP:0003631 10.39 PTCH2 SMO SUFU TP53 ZIC1 APC
9 homeostasis/metabolism MP:0005376 10.37 APC BRCA2 CTNNB1 DAB2IP DMBT1 GFAP
10 craniofacial MP:0005382 10.35 APC CTNNB1 ERBB4 GLI1 MYC MYCN
11 immune system MP:0005387 10.29 CTNNB1 DMBT1 ERBB4 GFAP MYC PTCH1
12 normal MP:0002873 10.28 APC BRCA2 CTNNB1 ERBB4 GFAP GLI1
13 muscle MP:0005369 10.27 ZIC1 APC CTNNB1 ERBB4 GFAP MYC
14 endocrine/exocrine gland MP:0005379 10.24 APC BRCA2 CTNNB1 ERBB4 GLI1 MYC
15 limbs/digits/tail MP:0005371 10.22 PTCH1 SMO SUFU TP53 APC BRCA2
16 integument MP:0010771 10.19 APC BRCA2 CTNNB1 ERBB4 MYC PTCH1
17 neoplasm MP:0002006 10.18 APC BRCA2 CTNNB1 DMBT1 GLI1 MYC
18 hearing/vestibular/ear MP:0005377 10.17 SMO TP53 APC CTNNB1 DMBT1 MYC
19 no phenotypic analysis MP:0003012 10.13 APC CTNNB1 DAB2IP GLI1 MYC MYCN
20 reproductive system MP:0005389 10 APC BRCA2 CTNNB1 ERBB4 GLI1 MYC
21 pigmentation MP:0001186 9.91 APC CTNNB1 MYC OTX2 PTCH1 SUFU
22 renal/urinary system MP:0005367 9.87 APC CTNNB1 DMBT1 GLI1 MYCN PTCH1
23 respiratory system MP:0005388 9.85 CTNNB1 ERBB4 GLI1 MYCN NTRK3 OTX2
24 skeleton MP:0005390 9.7 SMO SUFU TP53 ZIC1 APC BRCA2
25 vision/eye MP:0005391 9.32 CTNNB1 GFAP MYCN NTRK3 OTX2 PTCH1

Drugs & Therapeutics for Medulloblastoma

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

(show top 50) (show all 297)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 4,Phase 2,Phase 3,Phase 1 41575-94-4 10339178 498142 38904
2
Cisplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
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 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 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 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 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 4053 460612
31
Levoleucovorin Approved 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
Isotretinoin Approved Phase 3,Phase 2,Phase 1 4759-48-2 5538 5282379
35
Cyproheptadine Approved Phase 3,Phase 2 129-03-3 2913
36
Histamine Approved, Investigational Phase 3,Phase 2 75614-87-8, 51-45-6 774
37
Metformin Approved Phase 3 657-24-9 14219 4091
38
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 50-02-2 5743
39
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
40
Ondansetron Approved Phase 3 99614-02-5 4595
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 246)

id 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 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
14 International Society of Paediatric Oncology (SIOP) PNET 5 Medulloblastoma Recruiting NCT02066220 Phase 2, Phase 3 Reduced-intensity maintenance chemotherapy;Maintenance chemotherapy
15 Hyperfractionated Versus Conventionally Fractionated Radiotherapy in Standard Risk Medulloblastoma Active, not recruiting NCT01351870 Phase 3
16 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
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 Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer Active, not recruiting NCT01987596 Phase 3
19 Acupressure in Controlling Nausea in Young Patients Receiving Highly Emetogenic Chemotherapy Active, not recruiting NCT01346267 Phase 3
20 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
21 Radiation Therapy and Combination Chemotherapy in Treating Young Patients With Metastatic Medulloblastoma Who Have Undergone Surgery Unknown status NCT00276666 Phase 2 cisplatin;lomustine;vincristine sulfate
22 High Risk Primitive Neuroectodermal (PNET) Brain Tumors in Childhood Unknown status NCT00180791 Phase 2 Etoposide, carboplatin, melphalan, cisplatin, thiotepa
23 Study of Vinorelbine and Cyclofosfamide Among Patients With Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
24 The Use of 5-aminolevulinic Acid (ALA) as an Intraoperative Tumor Marker for Resection of Pediatric Central Nervous System (CNS) Tumors Unknown status NCT02050243 Phase 1, Phase 2 5ALA
25 A Study of Aminolevulinic Acid (ALA) to Enhance Visualization and Resection of Malignant Glial Tumors of the Brain Unknown status NCT01403311 Phase 2 5-Aminolevuline Acid
26 Combination Chemotherapy With or Without Radiation Therapy in Treating Children With Brain Tumors Unknown status NCT00281905 Phase 2 carboplatin;cisplatin;cyclophosphamide;methotrexate;vincristine sulfate
27 Vismodegib in Treating Patients With Recurrent or Refractory Medulloblastoma Completed NCT00939484 Phase 2 Vismodegib
28 Vismodegib in Treating Younger Patients With Recurrent or Refractory Medulloblastoma Completed NCT01239316 Phase 2 Vismodegib
29 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
30 Combination Chemotherapy in Treating Younger Patients With Newly Diagnosed, Non-Metastatic Desmoplastic Medulloblastoma Completed NCT02017964 Phase 2 Vincristine Sulfate;Cyclophosphamide;Methotrexate;Etoposide;Carboplatin
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 Oxaliplatin in Treating Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Completed NCT00047177 Phase 2 Oxaliplatin
33 Concurrent Carboplatin and Reduced Dose Craniospinal Radiation for Medulloblastoma and Primitive Neuroectodermal Tumor (PNET) Completed NCT01542736 Phase 2 Carboplatin;Vincristine
34 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
35 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
36 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
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 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
39 Combination of Irinotecan and Temozolomide in Children With Brain Tumors. Completed NCT00404495 Phase 2 Irinotecan;Temozolomide
40 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
41 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
42 Combination Chemotherapy Plus Radiation Therapy in Treating Adult Patients With Brain Cancer Completed NCT00003309 Phase 2 cisplatin;cyclophosphamide;etoposide;vincristine sulfate
43 Lapatinib in Treating Young Patients With Recurrent or Refractory Central Nervous System Tumors Completed NCT00095940 Phase 1, Phase 2 lapatinib ditosylate
44 A Study of Pemetrexed in Children With Recurrent Cancer Completed NCT00520936 Phase 2 pemetrexed
45 Clinical Studies of Gemcitabine-Oxaliplatin Completed NCT00407433 Phase 2 Gemcitabine (Gemzar®), Oxaliplatin (Eloxatin®)
46 Rebeccamycin Analogue in Treating Children With Solid Tumors or Non-Hodgkin's Lymphoma Completed NCT00006102 Phase 2 becatecarin
47 Phenylbutyrate to Treat Children With Progressive or Recurrent Brain Tumors Completed NCT00006450 Phase 2 Phenylbutyrate
48 Topotecan Hydrochloride in Treating Children With Meningeal Cancer That Has Not Responded to Previous Treatment Completed NCT00005811 Phase 2 topotecan hydrochloride
49 Irinotecan in Treating Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
50 Carboplatin and Vincristine Plus Radiation Therapy Followed By Adjuvant Chemotherapy in Treating Young Patients With Newly Diagnosed CNS Embryonal Tumors Completed NCT00003203 Phase 2 carboplatin;cisplatin;cyclophosphamide;vincristine sulfate

Search NIH Clinical Center for Medulloblastoma

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: medulloblastoma

Genetic Tests for Medulloblastoma

Genetic tests related to Medulloblastoma:

id Genetic test Affiliating Genes
1 Medulloblastoma 29

Anatomical Context for Medulloblastoma

MalaCards organs/tissues related to Medulloblastoma:

39
Brain, Cerebellum, Bone, Bone Marrow, Liver, Myeloid, Lung

Publications for Medulloblastoma

Articles related to Medulloblastoma:

(show top 50) (show all 1544)
id Title Authors Year
1
Medulloblastoma and ependymoma cells display increased levels of 5-carboxylcytosine and elevated TET1 expression. ( 28228863 )
2017
2
Chemoradiation impairs normal developmental cortical thinning in medulloblastoma. ( 28534154 )
2017
3
Bone Marrow Buffy Coat Cell Block for Confirmation of Isolated Bone Marrow Relapse in Medulloblastoma. ( 28824255 )
2017
4
Oncogenic role of cytomegalovirus in medulloblastoma? ( 28844716 )
2017
5
Estrogen and soy isoflavonoids decrease sensitivity of medulloblastoma and central nervous system primitive neuroectodermal tumor cells to chemotherapeutic cytotoxicity. ( 28877739 )
2017
6
-Erratum for the paper "Kalogeraki A, Tamiolakis D, Mavrigiannaki P, Karvelaskalogerakis M, Datseri G, Agelaki S, Papadopoulos S. Recurrent Cerebellar Desmoplastic/Nodular Medulloblastoma in Cerebrospinal Fluid (CSF) in the Elderly. A Cytologic Diagnosis. Rom J Intern Med. 2016; 54(2):137-9". ( 28118148 )
2017
7
Expression and clinical relevance of SPOPL in medulloblastoma. ( 28928843 )
2017
8
PLK1-associated microRNAs are correlated with pediatric medulloblastoma prognosis. ( 28283778 )
2017
9
Concurrent paediatric medulloblastoma and Chiari I malformation with syringomyelia. ( 28432427 )
2017
10
Advances in Genomics Explain Medulloblastoma Behavior at the Bedside. ( 28899050 )
2017
11
Do we still need IQ-scores? Misleading interpretations of neurocognitive outcome in pediatric patients with medulloblastoma: a retrospective study. ( 28779461 )
2017
12
Outcome for children treated for medulloblastoma and supratentorial primitive neuroectodermal tumor (CNS-PNET) - a retrospective analysis spanning 40 years of treatment. ( 28325133 )
2017
13
Tailoring Medulloblastoma Treatment Through Genomics: Making a Change, One Subgroup at a Time. ( 28475368 )
2017
14
Endothelial Cells Promote Formation of Medulloblastoma Stem-Like Cells via Notch Pathway Activation. ( 28856557 )
2017
15
The polo-like kinase 4 gene (PLK4) is overexpressed in pediatric medulloblastoma. ( 28497182 )
2017
16
A phase II study of radioimmunotherapy with intraventricular (131) I-3F8 for medulloblastoma. ( 28940863 )
2017
17
Large cell/anaplastic medulloblastoma is associated with poor prognosis-a retrospective analysis at a single institute. ( 28488086 )
2017
18
Impact of radiation technique, radiation fraction dose, and total cisplatin dose on hearing : Retrospective analysis of 29A medulloblastoma patients. ( 28887665 )
2017
19
Silencing of Urothelial Carcinoma Associated 1 Inhibits the Proliferation and Migration of Medulloblastoma Cells. ( 28916736 )
2017
20
Near-Fatal Gastrointestinal Hemorrhage in a Child with Medulloblastoma on High Dose Dexamethasone. ( 28924528 )
2017
21
Response Assessment in Medulloblastoma and Leptomeningeal Seeding Tumors: Recommendations from the Response Assessment in Pediatric Neuro-Oncology Committee. ( 28449033 )
2017
22
A review of dosimetric and toxicity modeling of proton versus photon craniospinal irradiation for pediatrics medulloblastoma. ( 28509599 )
2017
23
Usp7 promotes medulloblastoma cell survival and metastasis by activating Shh pathway. ( 28137592 )
2017
24
The expression of FAT1 is associated with overall survival in children with medulloblastoma. ( 27834469 )
2017
25
Severe vincristine-induced polyneuropathy in a teenager with anaplastic medulloblastoma and undiagnosed Charcot-Marie-Tooth disease. ( 28438772 )
2017
26
Panobinostat, a histone deacetylase inhibitor, suppresses leptomeningeal seeding in a medulloblastoma animal model. ( 28915627 )
2017
27
Metabolic analysis of radioresistant medulloblastoma stem-like clones and potential therapeutic targets. ( 28426747 )
2017
28
Ganglioglioma Arising From Desmoplastic Medulloblastoma: A Case Report and Review of Literature. ( 28232638 )
2017
29
Synergistic anti-cancer effects of epigenetic drugs on medulloblastoma cells. ( 28429280 )
2017
30
Study of hTERT and Histone 3 Mutations in Medulloblastoma. ( 27694758 )
2017
31
An unusual combination of mirror-image dextrocardia with familial medulloblastoma : Is there a histogenetic relationship? ( 28844926 )
2017
32
Distinctive localization and MRI features correlate of molecular subgroups in adult medulloblastoma. ( 28808827 )
2017
33
Regulation of UHRF1 by microRNA-378 modulates medulloblastoma cell proliferation and apoptosis. ( 28901497 )
2017
34
The kinesin KIF14 is overexpressed in medulloblastoma and downregulation of KIF14 suppressed tumor proliferation and induced apoptosis. ( 28504687 )
2017
35
Novel molecular subgroups for clinical classification and outcome prediction in childhood medulloblastoma: a cohort study. ( 28545823 )
2017
36
Regulatory T cell subsets in patients with medulloblastoma at diagnosis and during standard irradiation and chemotherapy (PBTC N-11). ( 28825123 )
2017
37
Understanding medulloblastoma. ( 28953021 )
2017
38
Corrigendum: Selective targeting of HDAC1/2 elicits anticancer effects through Gli1 acetylation in preclinical models of SHH Medulloblastoma. ( 28429760 )
2017
39
Novel MYC-driven medulloblastoma models from multiple embryonic cerebellar cells. ( 28504719 )
2017
40
Risk factors for development of postoperative cerebellar mutism syndrome in children after medulloblastoma surgery. ( 28498095 )
2017
41
Potential role of long non-coding RNA ANRIL in pediatric medulloblastoma through promotion on proliferation and migration by targeting miR-323. ( 28513871 )
2017
42
Differential Expression of microRNAs in Medulloblastoma and the Potential Functional Consequences. ( 28481393 )
2017
43
Expression of large neutral amino acid transporters LAT1 and LAT2 in medulloblastoma. ( 28815339 )
2017
44
Pyruvate kinase inhibits proliferation during postnatal cerebellar neurogenesis and suppresses medulloblastoma formation. ( 28515149 )
2017
45
In vivo bioluminescence imaging using orthotopic xenografts towards patient's derived-xenograft Medulloblastoma models. ( 27982543 )
2017
46
Albumin nanoparticles for glutathione-responsive release of cisplatin: New opportunities for medulloblastoma. ( 27956195 )
2017
47
Detection of lower levels of SNAP25 using multiple microarray systems and its functional significance in medulloblastoma. ( 28339008 )
2017
48
Development of zebrafish medulloblastoma-like PNET model by TALEN-mediated somatic gene inactivation. ( 28903419 )
2017
49
ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients. ( 28338501 )
2017
50
High programmed cell death 1 ligand-1 expression: association with CD8+ T-cell infiltration and poor prognosis in human medulloblastoma. ( 28474991 )
2017

Variations for Medulloblastoma

UniProtKB/Swiss-Prot genetic disease variations for Medulloblastoma:

71
id 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 84)
id Gene Variation Type Significance SNP ID Assembly Location
1 SUFU NM_016169.3(SUFU): c.44C> T (p.Pro15Leu) single nucleotide variant Pathogenic rs28942088 GRCh37 Chromosome 10, 104263953: 104263953
2 SUFU SUFU, 1-BP INS, 143A insertion Pathogenic
3 SUFU NM_016169.3(SUFU): c.1022+1G> A single nucleotide variant Pathogenic rs587776578 GRCh37 Chromosome 10, 104359302: 104359302
4 SUFU SUFU, 2.5-Mb DEL deletion Pathogenic
5 SUFU NM_016169.3(SUFU): c.71delC (p.Pro24Argfs) deletion Pathogenic rs587776579 GRCh37 Chromosome 10, 104263980: 104263980
6 SUFU SUFU, 1-BP INS, 71C insertion Pathogenic
7 PTCH2 NM_001166292.1(PTCH2): c.1172_1173delCT (p.Ser391Terfs) deletion Pathogenic/Likely pathogenic rs56126236 GRCh37 Chromosome 1, 45295116: 45295117
8 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
9 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
10 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
11 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
12 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
13 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
14 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
15 PIK3CA NM_006218.3(PIK3CA): c.1636C> G (p.Gln546Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
16 PIK3CA NM_006218.3(PIK3CA): c.1636C> A (p.Gln546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
17 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh37 Chromosome 1, 115258745: 115258745
18 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121434596 GRCh37 Chromosome 1, 115258744: 115258744
19 CTNNB1 NM_001904.3(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
20 CTNNB1 NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913396 GRCh37 Chromosome 3, 41266098: 41266098
21 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
22 CTNNB1 NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28931588 GRCh37 Chromosome 3, 41266097: 41266097
23 CTNNB1 NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
24 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh37 Chromosome 3, 41266104: 41266104
25 CTNNB1 NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
26 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913281 GRCh37 Chromosome 3, 178952084: 178952084
27 PIK3CA NM_006218.3(PIK3CA): c.1637A> G (p.Gln546Arg) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh37 Chromosome 3, 178936095: 178936095
28 IDH1 NM_001282386.1(IDH1): c.395G> A (p.Arg132His) single nucleotide variant Pathogenic/Likely pathogenic rs121913500 GRCh38 Chromosome 2, 208248388: 208248388
29 SUFU NM_016169.3(SUFU): c.111delC (p.Tyr38Thrfs) deletion Pathogenic rs863224925 GRCh37 Chromosome 10, 104264020: 104264020
30 FGFR1 NM_023110.2(FGFR1): c.1638C> A (p.Asn546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs779707422 GRCh37 Chromosome 8, 38274849: 38274849
31 FGFR1 NM_023110.2(FGFR1): c.1966A> G (p.Lys656Glu) single nucleotide variant Pathogenic/Likely pathogenic rs869320694 GRCh37 Chromosome 8, 38272308: 38272308
32 TP53 NM_000546.5(TP53): c.818G> C (p.Arg273Pro) single nucleotide variant Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
33 TP53 NM_000546.5(TP53): c.743G> T (p.Arg248Leu) single nucleotide variant Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
34 TP53 NM_000546.5(TP53): c.743G> C (p.Arg248Pro) single nucleotide variant Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
35 NRAS NM_002524.4(NRAS): c.38G> T (p.Gly13Val) single nucleotide variant Pathogenic/Likely pathogenic rs121434596 GRCh37 Chromosome 1, 115258744: 115258744
36 IDH1 NM_005896.3(IDH1): c.395G> T (p.Arg132Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913500 GRCh37 Chromosome 2, 209113112: 209113112
37 IDH1 NM_001282387.1(IDH1): c.394C> T (p.Arg132Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 GRCh37 Chromosome 2, 209113113: 209113113
38 IDH1 NM_001282387.1(IDH1): c.394C> G (p.Arg132Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 GRCh37 Chromosome 2, 209113113: 209113113
39 IDH1 NM_001282387.1(IDH1): c.394C> A (p.Arg132Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 GRCh37 Chromosome 2, 209113113: 209113113
40 CTNNB1 NM_001904.3(CTNNB1): c.110C> A (p.Ser37Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
41 PIK3CA NM_006218.3(PIK3CA): c.1637A> C (p.Gln546Pro) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh37 Chromosome 3, 178936095: 178936095
42 PIK3CA NM_006218.3(PIK3CA): c.1637A> T (p.Gln546Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh37 Chromosome 3, 178936095: 178936095
43 SMO NM_005631.4(SMO): c.1417G> C (p.Asp473His) single nucleotide variant Pathogenic rs17710891 GRCh37 Chromosome 7, 128849189: 128849189
44 TP53 NM_001126112.2(TP53): c.746G> C (p.Arg249Thr) single nucleotide variant Likely pathogenic rs587782329 GRCh37 Chromosome 17, 7577535: 7577535
45 CTNNB1 NM_001904.3(CTNNB1): c.94G> C (p.Asp32His) single nucleotide variant Likely pathogenic rs28931588 GRCh37 Chromosome 3, 41266097: 41266097
46 CTNNB1 NM_001904.3(CTNNB1): c.94G> A (p.Asp32Asn) single nucleotide variant Likely pathogenic rs28931588 GRCh37 Chromosome 3, 41266097: 41266097
47 CTNNB1 NM_001904.3(CTNNB1): c.95A> C (p.Asp32Ala) single nucleotide variant Likely pathogenic rs121913396 GRCh37 Chromosome 3, 41266098: 41266098
48 CTNNB1 NM_001904.3(CTNNB1): c.95A> T (p.Asp32Val) single nucleotide variant Likely pathogenic rs121913396 GRCh37 Chromosome 3, 41266098: 41266098
49 CTNNB1 NM_001904.3(CTNNB1): c.98C> G (p.Ser33Cys) single nucleotide variant Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
50 CTNNB1 NM_001904.3(CTNNB1): c.100G> C (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh37 Chromosome 3, 41266103: 41266103

Cosmic variations for Medulloblastoma:

9 (show all 44)
id 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.? 26
2 COSM14464 PTCH1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.1804C>T p.R602* 26
3 COSM585 NRAS central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.183A>T p.Q61H 26
4 COSM5664 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.121A>G p.T41A 26
5 COSM13144 SMO central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.1598G>A p.S533N 25
6 COSM5679 CTNNB1 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,desmoplastic c.110C>G p.S37C 25
7 COSM10704 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.844C>T p.R282W 24
8 COSM10738 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.542G>A p.R181H 24
9 COSM10659 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.817C>T p.R273C 24
10 COSM11517 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.377A>G p.Y126C 24
11 COSM6932 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.733G>A p.G245S 24
12 COSM10662 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.743G>A p.R248Q 24
13 COSM11183 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.799C>T p.R267W 24
14 COSM10656 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.742C>T p.R248W 24
15 COSM10648 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.524G>A p.R175H 24
16 COSM17438 PTCH1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.2503G>T p.E835* 24
17 COSM580 NRAS central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.181C>A p.Q61K 24
18 COSM5673 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>A p.S33Y 24
19 COSM5667 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.134C>T p.S45F 24
20 COSM5677 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>G p.S33C 24
21 COSM5669 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>T p.S33F 24
22 COSM5682 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.97T>C p.S33P 24
23 COSM5661 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.94G>T p.D32Y 24
24 COSM5718 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.149G>A p.G50D 24
25 COSM5672 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.94G>A p.D32N 24
26 COSM5662 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.110C>T p.S37F 24
27 COSM5686 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.100G>A p.G34R 24
28 COSM5671 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.101G>A p.G34E 24
29 COSM5670 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.101G>T p.G34V 24
30 COSM5675 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.109T>G p.S37A 24
31 COSM5690 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.95A>C p.D32A 24
32 COSM5666 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.110C>A p.S37Y 24
33 COSM5687 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.109T>C p.S37P 24
34 COSM4972316 AXIN2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.2087A>G p.Q696R 24
35 COSM43651 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.763A>T p.I255F 23
36 COSM53285 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.379T>A p.S127T 23
37 COSM10660 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.818G>A p.R273H 23
38 COSM5991649 CXCR4 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,classic c.301G>A p.D101N 23
39 COSM5691 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,large cell c.95A>T p.D32V 23
40 COSM133744 AXIN1 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,classic c.652C>T p.P218S 23
41 COSM96955 SUFU central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,large cell c.1084C>T p.R362C 22
42 COSM3727816 TP53 central nervous system,cerebellum,glioma,anaplastic c.562C>A p.L188M 7
43 COSM3727817 TP53 central nervous system,cerebellum,glioma,anaplastic c.1118A>G p.K373R 7
44 COSM476 BRAF central nervous system,cerebellum,glioma,anaplastic c.1799T>A p.V600E 7

Copy number variations for Medulloblastoma from CNVD:

7 (show top 50) (show all 406)
id 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 GeneCards Suite gene sharing:

(show all 26)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 APC CTNNB1 ERBB4 GFAP GLI1 MYC
2
Show member pathways
13.45 CTNNB1 ERBB4 GLI1 KCTD11 NTRK3 PTCH1
3
Show member pathways
12.42 CTNNB1 ERBB4 MYC TP53
4
Show member pathways
12.35 CTNNB1 ERBB4 NTRK3 TP53
5 12.33 APC CTNNB1 MYC TP53
6 12.1 APC CTNNB1 MYC TP53
7 12.05 BRCA2 CTNNB1 MYC TP53
8 12.04 CTNNB1 ERBB4 MYC PTCH1 SMO TP53
9 11.92 APC BRCA2 CTNNB1 GLI1 MYC PTCH1
10
Show member pathways
11.91 APC CTNNB1 GLI1 PTCH1 PTCH2 SMO
11 11.89 APC CTNNB1 GLI1 PTCH1 PTCH2 SUFU
12 11.86 APC CTNNB1 MYC TP53
13
Show member pathways
11.83 GLI1 PTCH1 PTCH2 SMO SUFU
14 11.82 APC CTNNB1 MYC TP53
15 11.77 CTNNB1 GFAP MYC ZIC1
16 11.68 APC CTNNB1 MYC
17 11.6 MYC MYCN TP53
18 11.59 MYC NTRK3 TP53
19 11.5 APC CTNNB1 ERBB4 MYC
20 11.49 APC CTNNB1 MYC
21 11.41 APC CTNNB1 MYC
22 11.3 GLI1 PTCH1 SMO
23 11.22 CTNNB1 MYC TP53
24
Show member pathways
11.16 PTCH1 PTCH2 SMO
25
Show member pathways
10.95 MYC OTX2 TP53
26 10.27 MYC MYCN

GO Terms for Medulloblastoma

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

id Name GO ID Score Top Affiliating Genes
1 beta-catenin destruction complex GO:0030877 9.26 APC CTNNB1
2 catenin complex GO:0016342 9.16 APC CTNNB1
3 Wnt signalosome GO:1990909 8.96 APC CTNNB1
4 ciliary tip GO:0097542 8.8 GLI1 SMO SUFU
5 cytoplasm GO:0005737 10.17 APC BRCA2 CDCA7L CTNNB1 DAB2IP DMBT1

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

(show all 37)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.97 APC CTNNB1 DAB2IP ERBB4 NTRK3 TP53
2 positive regulation of cell proliferation GO:0008284 9.92 CDCA7L CTNNB1 ERBB4 GLI1 MYC MYCN
3 lung development GO:0030324 9.85 CTNNB1 GLI1 MYCN
4 regulation of growth GO:0040008 9.82 DAB2IP KCTD11 PTCH1
5 smoothened signaling pathway GO:0007224 9.82 GLI1 PTCH1 SMO
6 pattern specification process GO:0007389 9.8 PTCH1 SMO ZIC1
7 skin development GO:0043588 9.79 CTNNB1 PTCH2 SUFU
8 branching involved in ureteric bud morphogenesis GO:0001658 9.78 CTNNB1 MYC PTCH1
9 response to gamma radiation GO:0010332 9.76 BRCA2 MYC TP53
10 negative regulation of fibroblast proliferation GO:0048147 9.75 DAB2IP MYC TP53
11 dorsal/ventral pattern formation GO:0009953 9.73 CTNNB1 GLI1 PTCH1 SMO
12 renal system development GO:0072001 9.71 CTNNB1 PTCH1 SMO
13 positive regulation of mesenchymal cell proliferation GO:0002053 9.71 CTNNB1 MYC MYCN SMO
14 multicellular organism development GO:0007275 9.7 DAB2IP DMBT1 ERBB4 GLI1 KCTD11 NTRK3
15 cell fate determination GO:0001709 9.69 CTNNB1 PTCH1 PTCH2
16 dorsal/ventral neural tube patterning GO:0021904 9.67 PTCH1 SMO
17 canonical Wnt signaling pathway GO:0060070 9.67 APC CTNNB1 GLI1 MYC
18 regulation of osteoblast differentiation GO:0045667 9.66 CTNNB1 GLI1
19 cellular response to cholesterol GO:0071397 9.66 PTCH1 SMO
20 layer formation in cerebral cortex GO:0021819 9.65 CTNNB1 DAB2IP
21 negative regulation of astrocyte differentiation GO:0048712 9.65 MYCN NTRK3
22 mammary gland epithelial cell differentiation GO:0060644 9.65 ERBB4 PTCH1 SMO
23 negative regulation of cell division GO:0051782 9.64 MYC PTCH1
24 positive regulation of epidermal cell differentiation GO:0045606 9.63 PTCH1 PTCH2
25 cerebellar cortex morphogenesis GO:0021696 9.62 GLI1 SMO
26 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.59 GLI1 SMO
27 epidermal cell fate specification GO:0009957 9.57 PTCH1 PTCH2
28 regulation of smoothened signaling pathway GO:0008589 9.56 GLI1 OTX2 PTCH1 ZIC1
29 negative regulation of smoothened signaling pathway GO:0045879 9.46 KCTD11 PTCH1 PTCH2 SUFU
30 positive regulation of transcription, DNA-templated GO:0045893 9.36 BRCA2 CTNNB1 ERBB4 GLI1 MYC MYCN
31 regulation of transcription, DNA-templated GO:0006355 10.33 CDCA7L CTNNB1 ERBB4 GLI1 MYC MYCN
32 cell differentiation GO:0030154 10.14 CTNNB1 DMBT1 GLI1 KCTD11 NTRK3 TP53
33 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.11 CTNNB1 DAB2IP GLI1 MYC MYCN OTX2
34 negative regulation of transcription from RNA polymerase II promoter GO:0000122 10.1 CTNNB1 DAB2IP MYC PTCH1 SMO SUFU
35 negative regulation of transcription, DNA-templated GO:0045892 10.07 CTNNB1 DAB2IP PTCH1 SMO TP53
36 negative regulation of cell proliferation GO:0008285 10.02 APC CTNNB1 DAB2IP ERBB4 PTCH1 TP53
37 positive regulation of gene expression GO:0010628 10 CTNNB1 MYC MYCN NTRK3 SMO TP53

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

id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.77 APC CTNNB1 DAB2IP SUFU TP53
2 transcription regulatory region DNA binding GO:0044212 9.76 CTNNB1 ERBB4 GLI1 TP53
3 patched binding GO:0005113 9.4 PTCH1 SMO
4 hedgehog family protein binding GO:0097108 9.32 PTCH1 PTCH2
5 hedgehog receptor activity GO:0008158 9.26 PTCH1 PTCH2
6 smoothened binding GO:0005119 9.16 PTCH1 PTCH2
7 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.02 CTNNB1 GLI1 MYC OTX2 ZIC1
8 kinase binding GO:0019900 8.96 CTNNB1 DAB2IP
9 protein binding GO:0005515 10.36 APC BRCA2 CDCA7L CTNNB1 DAB2IP DMBT1

Sources for Medulloblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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