MCID: MDL003
MIFTS: 38

Medullomyoblastoma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Medullomyoblastoma

MalaCards integrated aliases for Medullomyoblastoma:

Name: Medullomyoblastoma 12 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:3861
MeSH 44 D008527
NCIt 50 C3706
SNOMED-CT 68 24604009
UMLS 73 C0205833

Summaries for Medullomyoblastoma

MalaCards based summary : Medullomyoblastoma is related to neuroma and teratoma, and has symptoms including headache, vomiting and gait ataxia. An important gene associated with Medullomyoblastoma is MB (Myoglobin), and among its related pathways/superpathways are Neuroscience and Spinal Cord Injury. Affiliated tissues include cerebellum and brain, and related phenotypes are Decreased viability in esophageal squamous lineage and Increased proliferation

Related Diseases for Medullomyoblastoma

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

(show top 50) (show all 193)
# Related Disease Score Top Affiliating Genes
1 neuroma 30.1 ENO2 GFAP SMARCB1
2 teratoma 29.4 ENO2 GFAP SYP TP53
3 embryonal rhabdomyosarcoma 29.4 DES MB MYCN MYOD1 MYOG
4 rhabdomyosarcoma 27.7 DES ENO2 MB MYCN MYOD1 MYOG
5 medulloblastoma 26.5 DES ENO2 GFAP MYC MYCN OTX2
6 gliomatosis peritonei 11.0 DES GFAP
7 orbit rhabdomyosarcoma 11.0 MB MYOG
8 giant cell myocarditis 11.0 DES MB
9 malignant triton tumor 11.0 DES MB
10 cutaneous leiomyosarcoma 10.9 DES GFAP
11 extraventricular neurocytoma 10.9 GFAP SYP
12 parachordoma 10.9 DES GFAP
13 gangliocytoma 10.8 GFAP SYP
14 syringocystadenoma papilliferum 10.8 DES GFAP
15 pilomyxoid astrocytoma 10.8 GFAP SYP
16 cervical polyp 10.8 DES MYOD1
17 chordoid meningioma 10.7 GFAP SYP
18 intracranial cysts 10.7 ENO2 GFAP
19 lung combined type small cell carcinoma 10.7 GFAP MYOG SYP
20 ureter small cell carcinoma 10.7 ENO2 SYP
21 malignant ectomesenchymoma 10.7 DES ENO2
22 malignant sertoli cell tumor 10.7 ENO2 SYP
23 urinary bladder small cell neuroendocrine carcinoma 10.7 ENO2 SYP
24 undifferentiated embryonal sarcoma of the liver 10.7 MYOD1 MYOG
25 chiari malformation 10.7 GFAP SYP
26 dysembryoplastic neuroepithelial tumor 10.7 GFAP SYP
27 myofibroma 10.7 DES MB
28 auditory system cancer 10.7 ENO2 SYP
29 ectomesenchymoma 10.7 DES ENO2
30 medulloepithelioma 10.7 GFAP INA SYP
31 syringoma 10.7 DES GFAP TP63
32 proliferative fasciitis 10.7 MB SMARCB1
33 sinonasal undifferentiated carcinoma 10.7 ENO2 SYP
34 sensory organ benign neoplasm 10.7 ENO2 SYP
35 gallbladder small cell carcinoma 10.7 ENO2 SYP
36 epulis 10.7 DES ENO2
37 pancreatic somatostatinoma 10.6 ENO2 SYP
38 cutaneous ganglioneuroma 10.6 ENO2 SYP
39 botryoid rhabdomyosarcoma 10.6 DES MB MYOD1
40 mesenchymoma 10.6 DES MB MYOD1
41 extrahepatic bile duct adenocarcinoma 10.6 ENO2 SYP
42 small cell carcinoma of the bladder 10.6 ENO2 SYP
43 papillary tumor of the pineal region 10.6 ENO2 SYP
44 ossifying fibromyxoid tumor 10.6 DES ENO2
45 gallbladder sarcoma 10.6 DES MYOD1 MYOG
46 orbital cancer 10.6 ENO2 SYP
47 epithelioid leiomyosarcoma 10.6 DES ENO2
48 cerebellar medulloblastoma 10.6 ENO2 GFAP
49 inflammatory leiomyosarcoma 10.6 DES MYOD1 MYOG
50 large cell medulloblastoma 10.6 MYC SYP

Graphical network of the top 20 diseases related to Medullomyoblastoma:



Diseases related to Medullomyoblastoma

Symptoms & Phenotypes for Medullomyoblastoma

UMLS symptoms related to Medullomyoblastoma:


headache, vomiting, gait ataxia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.7 DES GFAP IRGC MB MYCN MYOD1
2 Increased proliferation GR00094-A 8.62 SMARCB1 TP53

MGI Mouse Phenotypes related to Medullomyoblastoma:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.26 MYOG SMARCB1 SYP OTX2 TP53 TP63
2 cardiovascular system MP:0005385 10.25 PPP1R12A MYOD1 SMARCB1 OTX2 TP53 TP63
3 growth/size/body region MP:0005378 10.21 PPP1R12A MYOD1 MYOG SMARCB1 OTX2 TP53
4 cellular MP:0005384 10.19 SMARCB1 OTX2 TP53 TP63 MYC GFAP
5 homeostasis/metabolism MP:0005376 10.18 SAG MYOD1 MYOG SMARCB1 OTX2 TP53
6 mortality/aging MP:0010768 10.15 PPP1R12A MYOD1 MYOG SMARCB1 OTX2 TP53
7 muscle MP:0005369 10.1 PPP1R12A MYOD1 MYOG SMARCB1 OTX2 TP53
8 digestive/alimentary MP:0005381 10.08 TP53 PPP1R12A SMARCB1 OTX2 TP63 GFAP
9 embryo MP:0005380 10.06 MYOG SMARCB1 OTX2 TP53 TP63 MYCN
10 nervous system MP:0003631 9.96 SAG SMARCB1 SYP OTX2 TP53 GFAP
11 normal MP:0002873 9.85 MYOD1 MYOG OTX2 SYP TP53 TP63
12 respiratory system MP:0005388 9.56 MYOD1 MYOG OTX2 TP53 TP63 MYCN
13 vision/eye MP:0005391 9.17 OTX2 SAG SMARCB1 TP53 TP63 GFAP

Drugs & Therapeutics for Medullomyoblastoma

Search Clinical Trials , NIH Clinical Center for Medullomyoblastoma

Genetic Tests for Medullomyoblastoma

Anatomical Context for Medullomyoblastoma

MalaCards organs/tissues related to Medullomyoblastoma:

41
Cerebellum, Brain

Publications for Medullomyoblastoma

Articles related to Medullomyoblastoma:

(show all 36)
# Title Authors Year
1
Medullomyoblastoma: A report of two cases. ( 28488644 )
2017
2
Medullomyoblastoma: A rare case in an unusual location in an atypical age group. ( 27366275 )
2016
3
Medullomyoblastoma treated with craniospinal radiation and adjuvant chemotherapy: Report of 4 cases and review of the literature. ( 25936510 )
2015
4
Isochromosome 17q, MYC amplification and large cell/anaplastic phenotype in a case of medullomyoblastoma with extracranial metastases. ( 22147345 )
2012
5
Medullomyoblastoma: a case report and literature review of a rare tumor entity. ( 23155263 )
2012
6
A case of medullomyoblastoma. ( 21696510 )
2011
7
[Medullomyoblastoma: a medulloblastoma with rhabdomyoblastic differentiation]. ( 20451073 )
2010
8
The role of immunohistochemistry in medullomyoblastoma--a case series highlighting divergent differentiation. ( 18439235 )
2008
9
Medullomyoblastoma with calcification: a case report. ( 18181837 )
2008
10
Cerebellar medullomyoblastoma with melanotic tubular structures. ( 16550533 )
2008
11
Medullomyoblastoma: teratoid nature of a quite rare neoplasm. ( 18261773 )
2008
12
Concurrent gain of 17q and the MYC oncogene in a medullomyoblastoma. ( 18021376 )
2007
13
A 3 1/2-year-old child with a posterior fossa mass. Pigmented medullomyoblastoma. ( 16594755 )
2006
14
Unusually long survival in a case of medullomyoblastoma. ( 16326277 )
2005
15
A case of medullomyoblastoma of cerebellopontine angle mimicking acoustic neuroma. ( 15344215 )
2004
16
Medullomyoblastoma: a radiographic and clinicopathologic analysis of six cases and review of the literature. ( 15368333 )
2004
17
Medullomyoblastoma: case report. ( 11510933 )
2001
18
Ultrastructural changes in medullomyoblastoma. Similarities with foetal rhabdomyoma. ( 10514575 )
1999
19
Medullomyoblastoma: A case report. ( 10339710 )
1999
20
Medullomyoblastoma: a histological, immunohistochemical, ultrastructural and molecular genetic study. ( 9498058 )
1998
21
Medullomyoblastoma. A rare cerebellar tumour in children. ( 9726581 )
1998
22
Development of medullomyoblastoma from classical medulloblastoma following a long term latency. ( 8867688 )
1995
23
Medullomyoblastoma: report of two cases. ( 1327526 )
1992
24
Cerebellar medullomyoblastoma with advanced neuronal differentiation and hamartomatous component. ( 1662856 )
1991
25
[Medullomyoblastoma: immunohistochemical and ultrastructural study]. ( 2281954 )
1990
26
Medullomyoblastoma. ( 2290468 )
1990
27
Medullomyoblastoma in an adult. ( 2403482 )
1990
28
Medullomyoblastoma. A case report. ( 2561483 )
1989
29
Medullomyoblastoma: a case report. ( 2819571 )
1989
30
Pigmented primitive neuroectodermal tumor with multipotential differentiation in cerebellum (pigmented medullomyoblastoma). A case with light- and electron-microscopic, and immunohistochemical analysis. ( 3136447 )
1987
31
Medullomyoblastoma. A teratoma. ( 3978542 )
1985
32
Medullomyoblastoma. A histologic, immunohistochemical, and ultrastructural study. ( 6202392 )
1984
33
Ultrastructural study of medullomyoblastoma. ( 230690 )
1979
34
Primary cerebral rhabdomyosarcoma and the problem of medullomyoblastoma. ( 5049814 )
1972
35
Embryonal rhabdomyosarcoma of the middle ear primary to so-called medullomyoblastoma of brain. ( 5446604 )
1970
36
A CASE OF MEDULLOMYOBLASTOMA. ( 14190997 )
1963

Variations for Medullomyoblastoma

Expression for Medullomyoblastoma

Search GEO for disease gene expression data for Medullomyoblastoma.

Pathways for Medullomyoblastoma

Pathways related to Medullomyoblastoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.89 ENO2 GFAP MYCN SAG SYP
2 11.62 GFAP MYC TP53
3
Show member pathways
11.53 DES GFAP INA
4 11.25 MYC MYCN TP53
5
Show member pathways
10.27 MYC OTX2 TP53 TP63
6 9.85 MYC MYCN

GO Terms for Medullomyoblastoma

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

# Name GO ID Score Top Affiliating Genes
1 contractile fiber GO:0043292 9.26 DES PPP1R12A
2 neurofilament GO:0005883 9.16 GFAP INA
3 intermediate filament cytoskeleton GO:0045111 9.13 DES GFAP INA
4 nuclear chromatin GO:0000790 9.02 MYC MYOD1 SMARCB1 TP53 TP63

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.85 MYC MYCN MYOD1 OTX2 TP53 TP63
2 chromatin remodeling GO:0006338 9.75 MYC SMARCB1 TP63
3 cellular response to drug GO:0035690 9.63 MYC PPP1R12A TP53
4 positive regulation of myoblast fusion GO:1901741 9.58 MYOD1 MYOG
5 cellular response to UV GO:0034644 9.58 MYC TP53 TP63
6 oxygen transport GO:0015671 9.57 MB MYC
7 intermediate filament organization GO:0045109 9.56 DES GFAP
8 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.55 TP53 TP63
9 positive regulation of glial cell proliferation GO:0060252 9.52 GFAP MYC
10 myotube differentiation GO:0014902 9.51 MYOD1 MYOG
11 positive regulation of transcription, DNA-templated GO:0045893 9.5 MYC MYCN MYOD1 MYOG OTX2 TP53
12 mitotic G1 DNA damage checkpoint GO:0031571 9.49 TP53 TP63
13 positive regulation of skeletal muscle fiber development GO:0048743 9.48 MYOD1 MYOG
14 muscle cell fate commitment GO:0042693 9.43 MYOD1 MYOG
15 response to gamma radiation GO:0010332 9.43 MYC TP53 TP63
16 positive regulation of mesenchymal cell proliferation GO:0002053 9.33 MYC MYCN TP63
17 positive regulation of oxidative phosphorylation GO:1903862 9.32 MYC MYOG
18 positive regulation of transcription by RNA polymerase II GO:0045944 9.28 MYC MYCN MYOD1 MYOG OTX2 PPP1R12A
19 cell differentiation GO:0030154 10.01 INA MYOD1 MYOG SMARCB1 TP53 TP63

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.95 MYC MYCN MYOD1 MYOG OTX2 TP53
2 sequence-specific DNA binding GO:0043565 9.88 MYC MYOD1 MYOG OTX2 TP63
3 DNA binding transcription factor activity GO:0003700 9.8 MYC MYCN MYOD1 MYOG OTX2 TP53
4 structural constituent of cytoskeleton GO:0005200 9.63 DES GFAP INA
5 protein dimerization activity GO:0046983 9.62 MYC MYCN MYOD1 MYOG
6 p53 binding GO:0002039 9.54 SMARCB1 TP53 TP63
7 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.35 MYC MYCN MYOG OTX2 TP63
8 E-box binding GO:0070888 9.33 MYC MYOD1 MYOG
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.17 MYC MYCN MYOD1 MYOG OTX2 SMARCB1
10 DNA binding GO:0003677 10.03 MYC MYCN MYOD1 MYOG OTX2 SMARCB1

Sources for Medullomyoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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