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MDB
MCID: MDL005
MIFTS: 76

Medulloblastoma (MDB)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Medulloblastoma

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MalaCards integrated aliases for Medulloblastoma:

Name: Medulloblastoma 57 11 19 58 75 73 28 12 53 5 43 14 38 16 71
Mdb 57 19 73
Localized Primitive Neuroectodermal Tumor 11 71
Classic Medulloblastoma 58 71
Cpnet 11 71
Infratentorial Primitive Neuroectodermal Tumor 11
Medulloblastoma, with Extensive Nodularity 71
Medulloblastoma Predisposition Syndrome 57
Medullomyoblastoma of Unspecified Site 33
Medulloblastoma of Unspecified Site 33
Neuroectodermal Tumors, Primitive 43
Desmoplastic Medulloblastoma 71
Medulloblastoma, Somatic 57
Brain Medulloblastoma 11
Medulloblastomas 14
Cns Pnet 11

Characteristics:


Inheritance:

Somatic mutation 57

Prevelance:

1-9/1000000 (Europe, United States) 1-9/100000 (Europe) 58

Age Of Onset:

Medulloblastoma: All ages 58
Classic Medulloblastoma: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
incomplete penetrance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32
ICD11: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0050902
OMIM® 57 155255
SNOMED-CT 68 189925001 443333004
MESH via Orphanet 44 D008527
ICD10 via Orphanet 32 C71.6
UMLS via Orphanet 72 C0025149
ICD11 33 290815825
UMLS 71 C0025149 C0206663 C0751291 more
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Summaries for Medulloblastoma

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OMIM®: 57 Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features. (155255) (Updated 08-Dec-2022)

MalaCards based summary: Medulloblastoma, also known as mdb, is related to desmoplastic nodular medulloblastoma and childhood 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 Signaling by Hedgehog and Wnt / Hedgehog / Notch. The drugs Carboplatin and Coenzyme M have been mentioned in the context of this disorder. Affiliated tissues include lower part of the brain, brain and cerebellum, and related phenotypes are nausea and vomiting and increased intracranial pressure

Orphanet 58 Medulloblastoma: A rare embryonic tumor of the neuroepithelial tissue characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia. The disease can be classified according to histological (classic, anaplastic, large-cell, or desmoplatic medulloblastoma, or medulloblastoma with extensive nodularity) and molecular criteria (WNT-activated, sonic-hedgehog-activated, group 3, group 4).

Classic medulloblastoma: Classic medulloblastoma is a histological variant of medulloblastoma (see this term) ,an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.

GARD: 19 A rare embryonic tumor of the neuroepithelial tissue characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia. The disease can be classified according to histological (classic, anaplastic, large-cell, or desmoplatic medulloblastoma, or medulloblastoma with extensive nodularity) and molecular criteria (WNT-activated, sonic-hedgehog-activated, group 3, group 4).

Disease Ontology: 11 An infratentorial cancer that is located in the lower part of the brain and is a type of primitive neuroectodermal tumor.

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

Wikipedia: 75 Medulloblastoma is a common type of primary brain cancer in children. It originates in the part of the... more...
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Related Diseases for Medulloblastoma

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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 766)
# Related Disease Score Top Affiliating Genes
1 desmoplastic nodular medulloblastoma 33.5 SUFU PTCH2 PTCH1
2 childhood medulloblastoma 33.4 SUFU PTCH1 CTNNB1
3 large cell medulloblastoma 32.9 SUFU PTCH1
4 cerebellar medulloblastoma 32.8 SUFU PTCH1
5 adult medulloblastoma 32.8 SUFU PTCH1
6 basal cell nevus syndrome 32.8 SUFU SMO PTCH2 PTCH1 LOC100507346 GPR161
7 meningioma, familial 31.9 SUFU SMO PTCH2 PTCH1 MIR34A CTNNB1
8 basal cell carcinoma 31.8 SUFU SMO PTCH2 PTCH1 MIR18A CTNNB1
9 brain cancer 31.7 PTCH1 MIR34A MIR20A MIR19A MIR17 MIR125A
10 basal cell carcinoma 1 31.6 SMO PTCH2 PTCH1 LOC100507346
11 li-fraumeni syndrome 31.2 SUFU PTCH1 CTNNB1 BRCA2
12 rhabdomyosarcoma 31.2 SUFU PTCH2 PTCH1 CTNNB1 BRCA2
13 bap1 tumor predisposition syndrome 31.0 SUFU PTCH1 LOC100507346 BRCA2
14 inherited cancer-predisposing syndrome 31.0 SUFU PTCH1 LOC100507346 BRCA2
15 medullomyoblastoma 30.9 SUFU SMO
16 focal dermal hypoplasia 30.8 SUFU PTCH2 PTCH1 CTNNB1
17 glioma 30.7 MIR34A MIR20A MIR19A MIR17
18 cerebellum cancer 30.6 SUFU PTCH1
19 cowden syndrome 30.6 PTCH1 MIR19A CTNNB1 BRCA2
20 skin carcinoma 30.3 SUFU PTCH2 PTCH1 MIR18A CTNNB1
21 peripheral nervous system disease 30.3 MIR34A MIR324 MIR30B MIR17 MIR125A ELP1
22 central nervous system cancer 30.2 MIR34A MIR324 MIR30B MIR20A MIR19A MIR18A
23 precocious puberty 30.2 PTCH1 LOC100507346
24 thyroid gland cancer 30.2 PTCH1 MIR17 MIR125A CTNNB1
25 lynch syndrome 30.1 MIR18A MIR17 CTNNB1 BRCA2
26 muscular dystrophy, duchenne type 30.0 MIR34A MIR30D MIR30B MIR199B
27 colorectal adenoma 29.9 MIR18A MIR17 CTNNB1
28 leukemia, acute myeloid 29.8 MIR34A MIR326 MIR324 MIR30D MIR199B MIR18A
29 hematologic cancer 29.7 MIR34A MIR20A MIR19A MIR18A MIR17 MIR125A
30 ovarian disease 29.7 MIR34A MIR324 MIR17 MIR125A CTNNB1 BRCA2
31 thyroid gland anaplastic carcinoma 29.6 PTCH1 MIR30D MIR19A MIR18A MIR17 CTNNB1
32 leukemia, chronic myeloid 29.5 MIR20A MIR19A MIR18A MIR17 MIR125A CTNNB1
33 nasopharyngeal carcinoma 29.5 MIR324 MIR18A MIR17 MIR125A CTNNB1
34 melanoma 29.4 MIR34A MIR324 MIR30B MIR19A MIR199B MIR17
35 head and neck cancer 29.4 MIR34A MIR324 MIR20A MIR18A MIR17 MIR125A
36 esophageal cancer 29.4 MIR34A MIR324 MIR20A MIR18A MIR17 MIR125A
37 spinal disease 29.2 MIR34A MIR324 MIR30B MIR20A MIR19A MIR18A
38 malignant astrocytoma 29.2 MIR34A MIR324 MIR30B MIR20A MIR19A MIR18A
39 hepatocellular carcinoma 29.1 PTCH1 MIR34A MIR324 MIR30B MIR20A MIR19A
40 central nervous system disease 29.1 MIR34A MIR324 MIR30B MIR20A MIR19A MIR18A
41 nervous system disease 28.9 PTCH1 MIR34A MIR324 MIR30D MIR30B MIR20A
42 renal cell carcinoma, nonpapillary 28.9 MIR34A MIR324 MIR30B MIR20A MIR19A MIR18A
43 medulloblastoma shh activated and tp53 wild-type 11.3
44 medulloblastoma wnt activated 11.3
45 medulloblastoma shh activated 11.3
46 medulloblastoma shh activated and tp53 mutant 11.3
47 medulloblastoma non-wnt/non-shh 11.3
48 melanotic medulloblastoma 11.2
49 cerebellar vermis medulloblastoma 11.2
50 anaplastic/large cell medulloblastoma 11.2

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neoplasia:
medulloblastoma

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

Clinical features from OMIM®:

155255 (Updated 08-Dec-2022)

UMLS symptoms related to Medulloblastoma:


vomiting; headache; gait ataxia; cerebellar ataxia/dyskinesia

MGI Mouse Phenotypes related to Medulloblastoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.86 BRCA2 CTNNB1 MIR18A MIR34A PTCH1 PTCH2
2 limbs/digits/tail MP:0005371 9.7 BRCA2 CTNNB1 ELP1 GPR161 PTCH1 SMO
3 digestive/alimentary MP:0005381 9.56 BRCA2 CTNNB1 ELP1 GPR161 PTCH1 PTCH2
4 integument MP:0010771 9.28 BRCA2 CTNNB1 ELP1 GPR161 MIR34A PTCH1
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 260)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 4 41575-94-4 10339178 38904
2
Coenzyme M Approved, Investigational Phase 4 3375-50-6 598 23662354
3
Thiotepa Approved, Investigational Phase 4 52-24-4 5453
4
Etoposide Approved Phase 3 33419-42-0 36462
5
Lomustine Approved, Investigational Phase 3 13010-47-4 3950
6
Metformin Approved Phase 3 1115-70-4, 657-24-9 4091
7
Povidone K30 Approved, Experimental, Withdrawn Phase 3 9003-39-8 6917 131751496
8
Titanium dioxide Approved Phase 3 13463-67-7
9
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
10
Picropodophyllin Approved, Investigational Phase 3 518-28-5, 477-47-4 10607 72435
11
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
12
Temozolomide Approved, Investigational Phase 3 85622-93-1 5394
13
Vinblastine Approved Phase 2, Phase 3 865-21-4 241903 13342
14
Daunorubicin Approved Phase 3 20830-81-3 30323
15
Dexrazoxane Approved, Withdrawn Phase 3 24584-09-6 71384
16 Grape Approved Phase 3
17 Cranberry Approved, Investigational Phase 3
18
Lenograstim Approved, Investigational Phase 3 135968-09-1
19
Isotretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4, 4759-48-2 5538 444795 5282379
20
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8 5280382 445354
21
Trofosfamide Investigational Phase 2, Phase 3 22089-22-1 65702
22
Camptothecin Experimental Phase 3 7689-03-4 24360
23 Immunosuppressive Agents Phase 3
24
Etoposide phosphate Phase 3 16760419
25 Antimitotic Agents Phase 3
26 Tubulin Modulators Phase 3
27 Antidotes Phase 3
28 Chelating Agents Phase 3
29 Liver Extracts Phase 3
30 Hypoglycemic Agents Phase 3
31 Immunologic Factors Phase 3
32 Alkylating Agents Phase 3
33 Antirheumatic Agents Phase 3
34 Antineoplastic Agents, Alkylating Phase 3
35 Keratolytic Agents Phase 3
36 Dermatologic Agents Phase 3
37 Protective Agents Phase 3
38 Vitamins Phase 3
39 Trace Elements Phase 3
40 Micronutrients Phase 3
41 Retinol palmitate Phase 3
42 topoisomerase I inhibitors Phase 3
43 Vaccines Phase 3
44 Calcium, Dietary Phase 3
45 Cardiotonic Agents Phase 3
46
Razoxane Phase 3
47 3,6-bis(5-chloro-2-piperidyl)-2,5-piperazinedione Phase 3
48
Sodium thiosulfate Phase 3
49 Antitubercular Agents Phase 3
50 Antioxidants Phase 3

Interventional clinical trials:

(show top 50) (show all 287)
# Name Status NCT ID Phase Drugs
1 HeadStart4: Newly Diagnosed Children (<10 y/o) With Medulloblastoma and Other CNS Embryonal Tumors Clinical and Molecular Risk-Tailored Intensive and Compressed Induction Chemotherapy Followed by Consolidation With Randomization to Either Single Cycle or to Three Tandem Cycles of Marrow-Ablative Chemotherapy With Autologous Hematopoietic Progenitor Cell Rescue Recruiting NCT02875314 Phase 4 Induction;Single Cycle Intensive Chemotherapy;Tandem 3 Cycle Intensive Chemotherapy
2 A Prospective Randomised Controlled Trial Of Hyperfractionated Versus Conventionally Fractionated Radiotherapy In Standard Risk Medulloblastoma Unknown status NCT00053872 Phase 3 cisplatin;lomustine;vincristine sulfate
3 A Prospective Randomised Controlled Trial of Hyperfractionated Versus Conventionally Fractionated Radiotherapy in Standard Risk Medulloblastoma Unknown status NCT01351870 Phase 3
4 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
5 Systemic Chemotherapy, Second Look Surgery and Conformal Radiation Therapy Limited to the Posterior Fossa and Primary Site for Children >/= to 8 Months and <3 Years With Non-metastatic Medulloblastoma: A Children's Oncology Group Phase III Study Completed NCT00006461 Phase 3 cisplatin;cyclophosphamide;vincristine sulfate;etoposide
6 A Randomized Phase III Study of Sodium Thiosulfate for the Prevention of Cisplatin-Induced Ototoxicity in Children Completed NCT00716976 Phase 3 sodium thiosulfate
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 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
9 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
10 Phase III Randomized Double-blind Placebo-controlled Trial of Metformin for Cognitive Recovery and White Matter Growth in Paediatric Medulloblastoma Patients Recruiting NCT05230758 Phase 3 Metformin hydrochloride (HCl) 500mg tablet;Placebo
11 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
12 AN INTERNATIONAL PROSPECTIVE TRIAL ON MEDULLOBLASTOMA (MB) IN CHILDREN OLDER THAN 3 TO 5 YEARS WITH WNT BIOLOGICAL PROFILE (PNET 5 MB - LR and PNET 5 MB - WNT-HR), AVERAGE-RISK BIOLOGICAL PROFILE (PNET 5 MB -SR), OR TP53 MUTATION, AND REGISTRY FOR MB OCCURRING IN THE CONTEXT OF GENETIC PREDISPOSITION Active, not recruiting NCT02066220 Phase 2, Phase 3 Reduced-intensity maintenance chemotherapy;Maintenance chemotherapy;Induction Chemotherapy;Vinblastin Maintenance
13 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
14 A Phase III Randomized Trial for the Treatment of Newly Diagnosed Supratentorial PNET and High Risk Medulloblastoma in Children <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
15 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
16 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
17 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;Dexrazoxane;Doxorubicin Hydrochloride;Etoposide;Ifosfamide;Topotecan Hydrochloride;Vincristine Sulfate
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 3 Study of Sodium Thiosulfate for Reduction of Cisplatin-Induced Ototoxicity in Children With Average-Risk Medulloblastoma and Reduced Therapy in Children With Medulloblastoma With Low-Risk Features Not yet recruiting NCT05382338 Phase 3 Cisplatin;Cyclophosphamide;Lomustine;Mesna;Sodium Thiosulfate;Vincristine
20 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Terminated NCT01987596 Phase 3
21 Phase 2 Study of Radiation Therapy and Combination Chemotherapy Following Surgery in Treating Children With Newly Diagnosed Medulloblastoma Unknown status NCT02681705 Phase 2 Temozolomide
22 Hyperfractionated Accelerated Radiotherapy (HART) With Chemotherapy (Cisplatin, CCNU, Vincristine) for Metastatic (M1-3) Medulloblastoma Unknown status NCT00276666 Phase 2 cisplatin;lomustine;vincristine sulfate
23 National, Multicentric, Prospective Phase II Study Estimating the Interest of a Dose Decrease for Radiation Therapy Associated With a Carboplatine and Etoposide Based Chemotherapy for the Treatment of Standard Risk Adult Medulloblastomas Unknown status NCT01857453 Phase 2 carboplatine;Etoposide
24 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
25 Phase II Study of Vinorelbine + Cyclofosfamide Association Among Patients Reached of Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
26 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
27 A Phase I/II Study of LDE225 in Pediatric Patients With Recurrent or Refractory Medulloblastoma or Other Tumors Potentially Dependent on the Hedgehog-signaling Pathway and Adult Patients With Recurrent or Refractory Medulloblastoma Completed NCT01125800 Phase 1, Phase 2 LDE225
28 Comparator Study of 68Ga-DOTATOC PET/CT With Octreoscan + High-resolution, Contrast-enhanced CT for Diagnosis and Staging in Neuroendocrine Tumors and Other Somatostatin Receptor Positive Tumors Completed NCT01869725 Phase 2 gallium Ga 68-edotreotide
29 Temozolomide With Irinotecan Versus Temozolomide, Irinotecan Plus Bevacizumab (NSC# 704865) for Recurrent/Refractory Medulloblastoma/CNS PNET of Childhood, a COG Randomized Phase II Screening Trial Completed NCT01217437 Phase 2 Irinotecan Hydrochloride;Temozolomide
30 A Phase II, Multi-center, Open-label, Single-arm Study of the Efficacy and Safety of Oral LDE225 in Patients With Hh-pathway Activated Relapsed Medulloblastoma Completed NCT01708174 Phase 2 LDE225;TMZ
31 Phase 2 Single-Arm, Open Label Study Of Irinotecan In Combination With Temozolomide In Children With Recurrent Or Refractory Medulloblastoma And In Children With Newly Diagnosed High-Grade Glioma. Completed NCT00404495 Phase 2 Irinotecan;Temozolomide
32 Molecular Biology and Phase II Study of Lapatinib (GW572016) in Pediatric Patients With Recurrent or Refractory Medulloblastoma, Malignant Glioma or Ependymoma Completed NCT00095940 Phase 1, Phase 2 lapatinib ditosylate
33 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
34 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
35 A Phase I/II Feasibility Study of Oral Etoposide Given Concurrently With Radiotherapy Followed With Dose Intensive Adjuvant Chemotherapy for Children With Newly Diagnosed High Stage Medulloblastoma Completed NCT00003573 Phase 2 cisplatin;cyclophosphamide;etoposide;vincristine sulfate
36 Dose-Intensive Melphalan and Cyclophosphamide With Autologous Bone Marrow Rescue for Recurrent Medulloblastoma and Germ Cell Tumors Completed NCT00002594 Phase 2 cyclophosphamide;melphalan
37 A Phase II Clinical Trial Evaluating the Efficacy and Safety of GDC-0449 in Adults With Recurrent or Refractory Medulloblastoma Completed NCT00939484 Phase 2 Vismodegib
38 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
39 A Phase II Trial of Preradiation Multiagent Chemotherapy for Adults With "Poor Risk" Medulloblastoma, PNET, and Disseminated Ependymoma Completed NCT00003309 Phase 2 cisplatin;cyclophosphamide;etoposide;vincristine sulfate
40 Multicenter Pilot-study for the Therapy of Medulloblastoma of Adults (NOA-07) Completed NCT01614132 Phase 1, Phase 2 maintenance chemotherapy (vincristin, cisplatin and CCNU)
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 A Phase II Clinical Trial Evaluating the Efficacy and Safety of GDC-0449 in Children With Recurrent or Refractory Medulloblastoma Completed NCT01239316 Phase 2 Vismodegib
43 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
44 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
45 A Phase II Study of Pemetrexed in Children With Recurrent Malignancies Completed NCT00520936 Phase 2 pemetrexed
46 Phase 1/2 Study of Bempegaldesleukin in Combination With Nivolumab in Children, Adolescents, and Young Adults With Recurrent or Refractory Malignancies (PIVOT IO 020) Completed NCT04730349 Phase 1, Phase 2
47 Phase 2 Single-Arm Studies of Gemcitabine in Combination With Oxaliplatin Refractory and Relapsed Pediatric Solid Tumors Completed NCT00407433 Phase 2 Gemcitabine (Gemzar®), Oxaliplatin (Eloxatin®)
48 Phase II Study of Bevacizumab Plus Irinotecan (Camptosar™) in Children With Recurrent, Progressive, or Refractory Malignant Gliomas, Diffuse/Intrinsic Brain Stem Gliomas, Medulloblastomas, Ependymomas and Low Grade Gliomas Completed NCT00381797 Phase 2 Irinotecan Hydrochloride
49 Safety & Efficacy of 68Ga-DOTA-tyr3-Octreotide PET/CT in Diagnosis, Staging & Measurement of Response to Treatment in Patients With Somatostatin Receptor Positive Tumors: Comparison to Octreoscan Plus High-Resolution, Contrast Enhanced CT. Completed NCT01619865 Phase 1, Phase 2 68Ga-DOTATOC PET/CT
50 A Phase II Study of Intrathecal Topotecan (NSC #609699) in Patients With Refractory Meningeal Malignancies Completed NCT00005811 Phase 2 topotecan hydrochloride

Search NIH Clinical Center for Medulloblastoma

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Carmustine

Cochrane evidence based reviews: medulloblastoma

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Genetic Tests for Medulloblastoma

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Genetic tests related to Medulloblastoma:

# Genetic test Affiliating Genes
1 Medulloblastoma 28 BRCA2 CTNNB1 ELP1 GPR161 PTCH2 SUFU
Sources

Anatomical Context for Medulloblastoma

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Organs/tissues related to Medulloblastoma:

FMA: Lower Part Of The Brain
MalaCards : Brain, Cerebellum, Bone Marrow, Spinal Cord, Eye, T Cells, Lung
ODiseA: Brain
Sources

Publications for Medulloblastoma

About this section

Articles related to Medulloblastoma:

(show top 50) (show all 9246)
# Title Authors PMID Year
1
APC mutations in sporadic medulloblastomas. 53 62 57 5
10666372 2000
2
Germline Elongator mutations in Sonic Hedgehog medulloblastoma. 62 57 5
32296180 2020
3
Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma. 62 57 5
31609649 2020
4
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. 62 57 5
19833601 2010
5
Mutations in SUFU predispose to medulloblastoma. 62 57 5
12068298 2002
6
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. 57 5
15689453 2005
7
Bmi1 is essential for cerebellar development and is overexpressed in human medulloblastomas. 53 62 57
15029199 2004
8
BMP-2 mediates retinoid-induced apoptosis in medulloblastoma cells through a paracrine effect. 53 62 57
12872164 2003
9
Expression profiling of medulloblastoma: PDGFRA and the RAS/MAPK pathway as therapeutic targets for metastatic disease. 53 62 57
11544480 2001
10
Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. 53 62 5
9931336 1999
11
DMBT1, a new member of the SRCR superfamily, on chromosome 10q25.3-26.1 is deleted in malignant brain tumours. 53 62 57
9288095 1997
12
Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis. 53 62 57
1347196 1992
13
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma. 62 57
31664194 2019
14
Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same. 62 5
29356994 2018
15
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. 62 5
29753700 2018
16
The whole-genome landscape of medulloblastoma subtypes. 62 57
28726821 2017
17
Medulloblastoma. 62 57
26336203 2016
18
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. 62 5
25403219 2014
19
Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. 62 57
22820256 2012
20
Dissecting the genomic complexity underlying medulloblastoma. 62 57
22832583 2012
21
Novel mutations target distinct subgroups of medulloblastoma. 62 57
22722829 2012
22
Subgroup-specific structural variation across 1,000 medulloblastoma genomes. 62 57
22832581 2012
23
High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. 62 5
22508808 2012
24
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma. 62 5
21188540 2011
25
The genetic landscape of the childhood cancer medulloblastoma. 62 57
21163964 2011
26
Subtypes of medulloblastoma have distinct developmental origins. 62 57
21150899 2010
27
Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 62 5
19726788 2009
28
Treatment of medulloblastoma with hedgehog pathway inhibitor GDC-0449. 62 57
19726761 2009
29
Identification of a SUFU germline mutation in a family with Gorlin syndrome. 62 5
19533801 2009
30
Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 62 57
19270706 2009
31
MicroRNA profiling in human medulloblastoma. 53 62 46
18973228 2009
32
Signaling pathways in medulloblastoma. 62 57
18651559 2008
33
Medulloblastoma in childhood: new biological advances. 62 57
18031705 2007
34
CIC, a gene involved in cerebellar development and ErbB signaling, is significantly expressed in medulloblastomas. 62 57
15981098 2005
35
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 62 5
14670928 2004
36
PDGFRB is overexpressed in metastatic medulloblastoma. 62 57
14593398 2003
37
Medulloblastoma growth inhibition by hedgehog pathway blockade. 62 57
12202832 2002
38
Prediction of central nervous system embryonal tumour outcome based on gene expression. 62 57
11807556 2002
39
Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping. 62 57
10969942 2000
40
Induction of medulloblastomas in p53-null mutant mice by somatic inactivation of Rb in the external granular layer cells of the cerebellum. 62 57
10783170 2000
41
The molecular basis of Turcot's syndrome. 62 57
7661930 1995
42
Deletion mapping of the medulloblastoma locus on chromosome 17p. 62 57
1979050 1990
43
Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway. 5
31639285 2019
44
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. 5
28965847 2017
45
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. 5
28873162 2017
46
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 5
26619011 2016
47
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
48
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 5
25157968 2014
49
Vismodegib. 5
22679179 2012
50
MicroRNA-34a inhibits glioblastoma growth by targeting multiple oncogenes. 62 46
19773441 2009
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Variations for Medulloblastoma

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ClinVar genetic disease variations for Medulloblastoma:

5 (show top 50) (show all 998)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTNNB1 NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) SNV Likely Pathogenic; Other
 376231 rs121913400 GRCh37: 3:41266101-41266101
GRCh38: 3:41224610-41224610
2 CTNNB1 NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) SNV Likely Pathogenic; Other
 17581 rs28931588 GRCh37: 3:41266097-41266097
GRCh38: 3:41224606-41224606
3 DDX3X NM_001356.5(DDX3X):c.1592G>A (p.Arg531His) SNV Other
 438760 rs1555954275 GRCh37: X:41205852-41205852
GRCh38: X:41346599-41346599
4 ARID1B NM_001374828.1(ARID1B):c.3714+1G>A SNV Other
 438752 rs1554231278 GRCh37: 6:157502313-157502313
GRCh38: 6:157181179-157181179
5 DDX3X NM_001356.5(DDX3X):c.1033G>C (p.Val345Leu) SNV Other
 438761 rs1555953796 GRCh37: X:41204440-41204440
GRCh38: X:41345187-41345187
6 NONO NM_007363.5(NONO):c.731dup (p.Asn244fs) DUP Other
 438778 rs1555950011 GRCh37: X:70516489-70516490
GRCh38: X:71296639-71296640
7 FOXO3 NM_001455.4(FOXO3):c.699G>A (p.Trp233Ter) SNV Other
 438764 rs1554218944 GRCh37: 6:108984735-108984735
GRCh38: 6:108663532-108663532
8 ARID1A NM_006015.6(ARID1A):c.2732G>T (p.Arg911Met) SNV Other
 438751 rs1553152166 GRCh37: 1:27089776-27089776
GRCh38: 1:26763285-26763285
9 DDX3X NM_001356.5(DDX3X):c.1588G>T (p.Gly530Cys) SNV Other
 438759 rs1555954272 GRCh37: X:41205848-41205848
GRCh38: X:41346595-41346595
10 CTNNB1 NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) SNV Likely Pathogenic; Other
 17584 rs28931589 GRCh37: 3:41266104-41266104
GRCh38: 3:41224613-41224613
11 PRKAR1A NM_002734.5(PRKAR1A):c.329C>T (p.Ala110Val) SNV Other
 438784 rs1194755479 GRCh37: 17:66519048-66519048
GRCh38: 17:68522907-68522907
12 SMARCA4 NM_003072.5(SMARCA4):c.2729C>T (p.Thr910Met) SNV Other
 438790 rs1238758086 GRCh37: 19:11132513-11132513
GRCh38: 19:11021837-11021837
13 BRCA2 NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) SNV Pathogenic
 37989 rs41293497 GRCh37: 13:32914174-32914174
GRCh38: 13:32340037-32340037
14 BRCA2 NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) SNV Pathogenic
Pathogenic
 38215 rs28897756 GRCh37: 13:32954050-32954050
GRCh38: 13:32379913-32379913
15 BRCA2 NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) SNV Pathogenic
Pathogenic
 51952 rs80358814 GRCh37: 13:32914349-32914349
GRCh38: 13:32340212-32340212
16 BRCA2 NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) SNV Pathogenic
 51129 rs80358435 GRCh37: 13:32893291-32893291
GRCh38: 13:32319154-32319154
17 BRCA2 NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) SNV Pathogenic
 38099 rs80358972 GRCh37: 13:32930609-32930609
GRCh38: 13:32356472-32356472
18 SUFU NM_016169.4(SUFU):c.585_586dup (p.Thr196fs) DUP Pathogenic
 453967 rs1554852279 GRCh37: 10:104352468-104352469
GRCh38: 10:102592711-102592712
19 SUFU NM_016169.4(SUFU):c.436C>T (p.Arg146Ter) SNV Pathogenic
 406388 rs1060501109 GRCh37: 10:104309845-104309845
GRCh38: 10:102550088-102550088
20 BRCA2 NM_000059.4(BRCA2):c.658_659del (p.Val220fs) DEL Pathogenic
 9342 rs80359604 GRCh37: 13:32903605-32903606
GRCh38: 13:32329468-32329469
21 BRCA2 NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) SNV Pathogenic
 9346 rs80358785 GRCh37: 13:32914137-32914137
GRCh38: 13:32340000-32340000
22 SUFU NM_016169.4(SUFU):c.1077del (p.Glu359fs) DEL Pathogenic
 1457629 GRCh37: 10:104375079-104375079
GRCh38: 10:102615322-102615322
23 SUFU NM_016169.4(SUFU):c.73dup (p.Ala25fs) DUP Pathogenic
 1458799 GRCh37: 10:104263980-104263981
GRCh38: 10:102504223-102504224
24 SUFU NC_000010.10:g.(?_104263900)_(104389922_?)del DEL Pathogenic
 1460284 GRCh37: 10:104263900-104389922
GRCh38:
25 SUFU NM_016169.4(SUFU):c.886C>T (p.Gln296Ter) SNV Pathogenic
 1428202 GRCh37: 10:104357026-104357026
GRCh38: 10:102597269-102597269
26 SUFU NM_016169.4(SUFU):c.82_86del (p.Ser28fs) MICROSAT Pathogenic
 1454347 GRCh37: 10:104263984-104263988
GRCh38: 10:102504227-102504231
27 overlap with 6 genes NC_000010.10:g.(?_104262628)_(104595248_?)del DEL Pathogenic
 1460216 GRCh37: 10:104262628-104595248
GRCh38:
28 PTCH1 NM_000264.5(PTCH1):c.1237C>T (p.Gln413Ter) SNV Pathogenic
 1072730 GRCh37: 9:98240447-98240447
GRCh38: 9:95478165-95478165
29 GPR161 NM_001375883.1(GPR161):c.487_488del (p.Leu163fs) DEL Pathogenic
 1710300 rs147891461 GRCh37: 1:168066357-168066358
GRCh38: 1:168097119-168097120
30 ELP1 NM_003640.5(ELP1):c.138dup (p.Val47fs) DUP Pathogenic
 1299758 GRCh37: 9:111693288-111693289
GRCh38: 9:108931008-108931009
31 ELP1 NM_003640.5(ELP1):c.312T>C (p.Cys104=) SNV Pathogenic
 1299759 GRCh37: 9:111689725-111689725
GRCh38: 9:108927445-108927445
32 SUFU NM_016169.4(SUFU):c.859_863dup (p.Ser288fs) DUP Pathogenic
 1395659 GRCh37: 10:104356996-104356997
GRCh38: 10:102597239-102597240
33 SUFU NM_016169.4(SUFU):c.53_59del (p.Pro18fs) DEL Pathogenic
 1373805 GRCh37: 10:104263957-104263963
GRCh38: 10:102504200-102504206
34 SUFU NM_016169.4(SUFU):c.576dup (p.Gly193fs) DUP Pathogenic
 1366442 GRCh37: 10:104352457-104352458
GRCh38: 10:102592700-102592701
35 SUFU NM_016169.4(SUFU):c.157C>T (p.Gln53Ter) SNV Pathogenic
 1453994 GRCh37: 10:104264066-104264066
GRCh38: 10:102504309-102504309
36 SUFU NM_016169.4(SUFU):c.53del (p.Pro18fs) DEL Pathogenic
 1431589 GRCh37: 10:104263959-104263959
GRCh38: 10:102504202-102504202
37 SUFU NM_016169.4(SUFU):c.37_53dup (p.Gly19fs) DUP Pathogenic
 1455211 GRCh37: 10:104263931-104263932
GRCh38: 10:102504174-102504175
38 SUFU NM_016169.4(SUFU):c.171dup (p.Val58fs) DUP Pathogenic
 406395 rs1554840869 GRCh37: 10:104264079-104264080
GRCh38: 10:102504322-102504323
39 SUFU NM_016169.4(SUFU):c.341del (p.Ser114fs) DEL Pathogenic
 406387 rs1060501108 GRCh37: 10:104309750-104309750
GRCh38: 10:102549993-102549993
40 SUFU NC_000010.11:g.(?_102593630)_(102597299_?)del DEL Pathogenic
 524681 GRCh37: 10:104353387-104357056
GRCh38: 10:102593630-102597299
41 SUFU NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs) INSERT Pathogenic
 573948 rs1564698850 GRCh37: 10:104357035-104357036
GRCh38: 10:102597278-102597279
42 SUFU NM_016169.4(SUFU):c.454+1G>A SNV Pathogenic
 571265 rs1564676479 GRCh37: 10:104309864-104309864
GRCh38: 10:102550107-102550107
43 SUFU NM_016169.4(SUFU):c.824G>A (p.Trp275Ter) SNV Pathogenic
 578241 rs1564698683 GRCh37: 10:104356964-104356964
GRCh38: 10:102597207-102597207
44 SUFU NM_016169.4(SUFU):c.175A>T (p.Lys59Ter) SNV Pathogenic
 581907 rs1564654588 GRCh37: 10:104264084-104264084
GRCh38: 10:102504327-102504327
45 PTCH1, LOC100507346 NM_000264.5(PTCH1):c.2244del (p.Ala749fs) DEL Pathogenic
 571864 rs1564032829 GRCh37: 9:98231039-98231039
GRCh38: 9:95468757-95468757
46 CTNNB1 NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) SNV Pathogenic
 265443 rs775104326 GRCh37: 3:41266486-41266486
GRCh38: 3:41224995-41224995
47 SMO NM_005631.5(SMO):c.1417G>C (p.Asp473His) SNV Pathogenic
 375938 rs17710891 GRCh37: 7:128849189-128849189
GRCh38: 7:129209348-129209348
48 SUFU NM_016169.4(SUFU):c.44C>T (p.Pro15Leu) SNV Pathogenic
 3569 rs28942088 GRCh37: 10:104263953-104263953
GRCh38: 10:102504196-102504196
49 PTCH2 NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) MICROSAT Pathogenic
 6145 rs56126236 GRCh37: 1:45295116-45295117
GRCh38: 1:44829444-44829445
50 SUFU NM_016169.4(SUFU):c.111del (p.Tyr38fs) DEL Pathogenic
 217007 rs863224925 GRCh37: 10:104264020-104264020
GRCh38: 10:102504263-102504263

UniProtKB/Swiss-Prot genetic disease variations for Medulloblastoma:

73
# Symbol AA change Variation ID SNP ID
1 APC p.Ala1296Val VAR_017653 rs1291513037
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:

8 (show top 50) (show all 2032)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM143944155 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.367C>T p.R123W 17:7673776-7673776 25
2 COSM87907024 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.799C>T p.R267W 17:7673821-7673821 25
3 COSM144087106 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.266G>A p.R89Q 17:7674220-7674220 25
4 COSM144309944 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.407G>A p.R136H 17:7675088-7675088 25
5 COSM121875983 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.347G>A p.R116Q 17:7674220-7674220 25
6 COSM106053434 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.742C>T p.R248W 17:7674221-7674221 25
7 COSM145024458 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.425G>A p.R142H 17:7675070-7675070 25
8 COSM142837497 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.733G>A p.G245S 17:7674230-7674230 25
9 COSM142842863 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.799C>T p.R267W 17:7673821-7673821 25
10 COSM144087230 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.256G>A p.G86S 17:7674230-7674230 25
11 COSM144097017 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.-101A>G p.? 17:7675235-7675235 25
12 COSM93191517 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.799C>T p.R267W 17:7673821-7673821 25
13 COSM122734399 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.346C>T p.R116W 17:7674221-7674221 25
14 COSM111758883 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.817C>T p.R273C 17:7673803-7673803 25
15 COSM122277714 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.146G>A p.R49H 17:7675070-7675070 25
16 COSM122734176 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.347G>A p.R116Q 17:7674220-7674220 25
17 COSM93184014 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.817C>T p.R273C 17:7673803-7673803 25
18 COSM143377232 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.425G>A p.R142H 17:7675070-7675070 25
19 COSM106053362 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.733G>A p.G245S 17:7674230-7674230 25
20 COSM121885286 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.403C>T p.R135W 17:7673821-7673821 25
21 COSM142560569 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.700C>T p.R234C 17:7673803-7673803 25
22 COSM112253124 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.524G>A p.R175H 17:7675088-7675088 25
23 COSM111758247 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.524G>A p.R175H 17:7675088-7675088 25
24 COSM93183975 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.742C>T p.R248W 17:7674221-7674221 25
25 COSM144310203 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.626G>A p.R209Q 17:7674220-7674220 25
26 COSM87898351 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.743G>A p.R248Q 17:7674220-7674220 25
27 COSM145017657 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.626G>A p.R209Q 17:7674220-7674220 25
28 COSM106053189 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.743G>A p.R248Q 17:7674220-7674220 25
29 COSM143950313 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.322C>T p.R108W 17:7673821-7673821 25
30 COSM144025222 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.344A>G p.Y115C 17:7675235-7675235 25
31 COSM122271820 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.346C>T p.R116W 17:7674221-7674221 25
32 COSM122284241 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.-20A>G p.? 17:7675235-7675235 25
33 COSM142560281 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.626G>A p.R209Q 17:7674220-7674220 25
34 COSM145017959 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.700C>T p.R234C 17:7673803-7673803 25
35 COSM142837093 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.524G>A p.R175H 17:7675088-7675088 25
36 COSM93183630 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.743G>A p.R248Q 17:7674220-7674220 25
37 COSM142560553 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.625C>T p.R209W 17:7674221-7674221 25
38 COSM143944147 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.265C>T p.R89W 17:7674221-7674221 25
39 COSM144092487 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.322C>T p.R108W 17:7673821-7673821 25
40 COSM106053452 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.817C>T p.R273C 17:7673803-7673803 25
41 COSM145029894 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.260A>G p.Y87C 17:7675235-7675235 25
42 COSM87905773 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.542G>A p.R181H 17:7675070-7675070 25
43 COSM142560558 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.727C>T p.R243W 17:7673776-7673776 25
44 COSM143167193 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.-101A>G p.? 17:7675235-7675235 25
45 COSM121876459 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.346C>T p.R116W 17:7674221-7674221 25
46 COSM112259585 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.542G>A p.R181H 17:7675070-7675070 25
47 COSM144013676 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.709C>T p.R237W 17:7674221-7674221 25
48 COSM105620642 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.742C>T p.R248W 17:7674221-7674221 25
49 COSM143163130 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.322C>T p.R108W 17:7673821-7673821 25
50 COSM143943997 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.256G>A p.G86S 17:7674230-7674230 25

Copy number variations for Medulloblastoma from CNVD:

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

Expression for Medulloblastoma

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Search GEO for disease gene expression data for Medulloblastoma.
Sources

Pathways for Medulloblastoma

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Pathways related to Medulloblastoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Signaling by Hedgehog 66
Show member pathways
 12.18 SUFU SMO PTCH1 GPR161
2
Wnt / Hedgehog / Notch 3
11.97 SUFU PTCH2 PTCH1 CTNNB1
3
Bardet-Biedl syndrome 74
Show member pathways
 11.76 SUFU SMO PTCH1 GPR161
4
Ciliopathies 74
11.7 SUFU SMO GPR161
6
Hedgehog signaling events mediated by Gli proteins 61
11.12 SUFU SMO PTCH1
7
miRNAs involved in DNA damage response 74
11.08 MIR20A MIR19A MIR18A MIR17
8
Signaling events mediated by the Hedgehog family 61
Show member pathways
 10.99 SMO PTCH2 PTCH1
9
Alstrom syndrome 74
10.79 SMO PTCH1 GPR161
10
Hedgehog signaling pathway 74
10.64 SUFU SMO PTCH2 PTCH1 GPR161
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 ciliary membrane GO:0060170 9.63 SMO PTCH1 GPR161
2 RISC complex GO:0016442 9.62 MIR326 MIR324 MIR30D MIR30B MIR20A MIR19A
3 extracellular vesicle GO:1903561 9.5 MIR34A MIR30D MIR30B MIR20A MIR19A MIR17

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.15 SMO MIR34A MIR30B MIR17 MIR125A CTNNB1
2 negative regulation of osteoblast differentiation GO:0045668 9.97 SUFU PTCH1 MIR17
3 stem cell proliferation GO:0072089 9.96 PTCH1 CTNNB1 BRCA2
4 negative regulation of gene expression GO:0010629 9.91 SMO MIR34A MIR20A MIR19A MIR17 MIR125A
5 skin development GO:0043588 9.89 SUFU PTCH2 CTNNB1
6 positive regulation of epidermal cell differentiation GO:0045606 9.88 PTCH2 PTCH1
7 negative regulation of smoothened signaling pathway GO:0045879 9.88 PTCH1 PTCH2 SUFU
8 smoothened signaling pathway GO:0007224 9.85 SUFU SMO PTCH2 PTCH1
9 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901621 9.84 GPR161 SUFU
10 dorsal/ventral pattern formation GO:0009953 9.83 SMO PTCH1 CTNNB1
11 negative regulation of angiogenesis GO:0016525 9.83 MIR34A MIR30B MIR125A CTNNB1
12 embryonic organ development GO:0048568 9.78 SMO PTCH1 CTNNB1
13 epidermal cell fate specification GO:0009957 9.76 PTCH2 PTCH1
14 miRNA-mediated gene silencing GO:0035195 9.66 MIR34A MIR326 MIR324 MIR30D MIR30B MIR20A
15 positive regulation of B cell receptor signaling pathway GO:0050861 9.58 MIR19A MIR18A
16 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.51 MIR20A MIR17
17 negative regulation of vascular endothelial growth factor production GO:1904046 9.46 MIR34A MIR20A MIR17 MIR125A
18 negative regulation of sprouting angiogenesis GO:1903671 9.35 MIR17 MIR18A MIR19A MIR20A MIR34A
19 positive regulation of pulmonary blood vessel remodeling GO:1905111 9.32 MIR20A MIR17

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

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 9.67 SMO PTCH1
2 hedgehog family protein binding GO:0097108 9.62 PTCH2 PTCH1
3 hedgehog receptor activity GO:0008158 9.56 PTCH2 PTCH1
4 mRNA 3'-UTR binding GO:0003730 9.5 MIR34A MIR326 MIR30D MIR20A MIR19A MIR17
5 smoothened binding GO:0005119 9.46 PTCH2 PTCH1
6 mRNA base-pairing translational repressor activity GO:1903231 9.32 MIR34A MIR326 MIR30D MIR30B MIR20A MIR19A
Sources

Sources for Medulloblastoma

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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