MCID: MDL003
MIFTS: 38

Medullomyoblastoma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Medullomyoblastoma

MalaCards integrated aliases for Medullomyoblastoma:

Name: Medullomyoblastoma 12 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:3861
MeSH 41 D008527
NCIt 46 C3706
SNOMED-CT 64 24604009
UMLS 69 C0205833

Summaries for Medullomyoblastoma

MalaCards based summary : Medullomyoblastoma is related to neuroma and embryonal rhabdomyosarcoma, and has symptoms including gait ataxia, vomiting and headache. An important gene associated with Medullomyoblastoma is MB (Myoglobin), and among its related pathways/superpathways are Neuroscience and Cytoskeleton remodeling Neurofilaments. 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 183)
# Related Disease Score Top Affiliating Genes
1 neuroma 29.9 ENO2 GFAP SMARCB1
2 embryonal rhabdomyosarcoma 29.5 DES MB MYCN MYOD1 MYOG
3 teratoma 29.5 ENO2 GFAP SYP TP53
4 rhabdomyosarcoma 28.5 DES ENO2 MB MYCN MYOD1 MYOG
5 medulloblastoma 28.0 ENO2 GFAP MYC MYCN OTX2 SMARCB1
6 gliomatosis peritonei 10.6 DES GFAP
7 orbit rhabdomyosarcoma 10.6 MB MYOG
8 giant cell myocarditis 10.6 DES MB
9 extraventricular neurocytoma 10.6 GFAP SYP
10 cutaneous leiomyosarcoma 10.6 DES GFAP
11 parachordoma 10.5 DES GFAP
12 gangliocytoma 10.5 GFAP SYP
13 pilomyxoid astrocytoma 10.5 GFAP SYP
14 syringocystadenoma papilliferum 10.5 DES GFAP
15 cervical polyp 10.5 DES MYOD1
16 lung combined type small cell carcinoma 10.5 GFAP MYOG SYP
17 proliferative fasciitis 10.4 MB SMARCB1
18 chordoid meningioma 10.4 GFAP SYP
19 undifferentiated embryonal sarcoma of the liver 10.4 MYOD1 MYOG
20 medulloepithelioma 10.4 GFAP INA SYP
21 syringoma 10.4 DES GFAP TP63
22 intracranial cysts 10.4 ENO2 GFAP
23 chiari malformation 10.4 GFAP SYP
24 malignant ectomesenchymoma 10.4 DES ENO2
25 malignant sertoli cell tumor 10.4 ENO2 SYP
26 urinary bladder small cell neuroendocrine carcinoma 10.4 ENO2 SYP
27 malignant triton tumor 10.4 DES MB MYOD1
28 mesenchymoma 10.4 DES MB MYOD1
29 sinonasal undifferentiated carcinoma 10.4 ENO2 SYP
30 dysembryoplastic neuroepithelial tumor 10.4 GFAP SYP
31 auditory system cancer 10.4 ENO2 SYP
32 gallbladder sarcoma 10.4 DES MYOD1 MYOG
33 cutaneous ganglioneuroma 10.4 ENO2 SYP
34 ectomesenchymoma 10.4 DES ENO2
35 inflammatory leiomyosarcoma 10.4 DES MYOD1 MYOG
36 sensory organ benign neoplasm 10.4 ENO2 SYP
37 adult fibrosarcoma 10.4 MB MYOD1 MYOG
38 middle ear adenoma 10.4 ENO2 SYP
39 pineoblastoma 10.4 GFAP SAG SYP
40 gallbladder small cell carcinoma 10.4 ENO2 SYP
41 epulis 10.4 DES ENO2
42 myofibroma 10.3 DES MB
43 pancreatic somatostatinoma 10.3 ENO2 SYP
44 extrahepatic bile duct adenocarcinoma 10.3 ENO2 SYP
45 small cell carcinoma of the bladder 10.3 ENO2 SYP
46 malignant fibrous histiocytoma of bone 10.3 DES MYC MYOD1
47 papillary tumor of the pineal region 10.3 ENO2 SYP
48 ossifying fibromyxoid tumor 10.3 DES ENO2
49 uterine sarcoma 10.3 DES MB SMARCB1
50 primitive neuroectodermal tumor of the cervix uteri 10.3 DES ENO2 GFAP

Graphical network of the top 20 diseases related to Medullomyoblastoma:



Diseases related to Medullomyoblastoma

Symptoms & Phenotypes for Medullomyoblastoma

UMLS symptoms related to Medullomyoblastoma:


gait ataxia, vomiting, headache

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

25
# 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:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 SMARCB1 MYOG SYP OTX2 TP53 DES
2 cardiovascular system MP:0005385 10.24 SMARCB1 OTX2 TP53 PPP1R12A MYOD1 DES
3 cellular MP:0005384 10.18 SMARCB1 OTX2 MB DES ENO2 MYC
4 growth/size/body region MP:0005378 10.18 SMARCB1 MYOG OTX2 TP53 PPP1R12A MYOD1
5 homeostasis/metabolism MP:0005376 10.15 MYOD1 SMARCB1 MYOG OTX2 TP53 SAG
6 mortality/aging MP:0010768 10.1 MYOD1 SMARCB1 MYOG OTX2 TP53 PPP1R12A
7 digestive/alimentary MP:0005381 10.06 SMARCB1 OTX2 TP53 PPP1R12A MYC GFAP
8 embryo MP:0005380 10.03 SMARCB1 MYOG OTX2 TP53 MB MYC
9 muscle MP:0005369 10.03 SMARCB1 MYOG OTX2 TP53 PPP1R12A MYOD1
10 nervous system MP:0003631 9.85 SAG SMARCB1 SYP OTX2 TP53 ENO2
11 normal MP:0002873 9.65 MYOG SYP OTX2 TP53 MYOD1 MYC
12 respiratory system MP:0005388 9.23 MYOG OTX2 TP53 MYOD1 MB ENO2

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:

38
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 rare cerebellar tumour in children. ( 9726581 )
1998
21
Medullomyoblastoma: a histological, immunohistochemical, ultrastructural and molecular genetic study. ( 9498058 )
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 in an adult. ( 2403482 )
1990
27
Medullomyoblastoma. ( 2290468 )
1990
28
Medullomyoblastoma: a case report. ( 2819571 )
1989
29
Medullomyoblastoma. A case report. ( 2561483 )
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
Show member pathways
11.58 DES GFAP INA
3 11.48 DES MYOD1 MYOG
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 protein complex GO:0043234 9.72 MYC OTX2 SMARCB1 TP53 TP63
2 transcription factor complex GO:0005667 9.46 MYOD1 MYOG TP53 TP63
3 contractile fiber GO:0043292 9.37 DES PPP1R12A
4 neurofilament GO:0005883 9.26 GFAP INA
5 intermediate filament cytoskeleton GO:0045111 9.13 DES GFAP INA
6 nuclear chromatin GO:0000790 9.02 MYC MYOD1 SMARCB1 TP53 TP63

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.99 INA MYOD1 MYOG SMARCB1 TP53 TP63
2 transcription by RNA polymerase II GO:0006366 9.8 MYC MYCN MYOD1 OTX2 TP53 TP63
3 chromatin remodeling GO:0006338 9.71 MYC SMARCB1 TP63
4 cellular response to drug GO:0035690 9.63 MYC PPP1R12A TP53
5 intermediate filament organization GO:0045109 9.58 DES GFAP
6 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.57 TP53 TP63
7 oxygen transport GO:0015671 9.56 MB MYC
8 myotube differentiation GO:0014902 9.55 MYOD1 MYOG
9 cellular response to UV GO:0034644 9.54 MYC TP53 TP63
10 positive regulation of glial cell proliferation GO:0060252 9.52 GFAP MYC
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 oxidative phosphorylation GO:1903862 9.4 MYC MYOG
17 positive regulation of mesenchymal cell proliferation GO:0002053 9.33 MYC MYCN TP63
18 positive regulation of transcription by RNA polymerase II GO:0045944 9.28 MYC MYCN MYOD1 MYOG OTX2 PPP1R12A

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.87 MYC MYCN MYOD1 MYOG OTX2 TP53
2 protein dimerization activity GO:0046983 9.71 MYC MYCN MYOD1 MYOG
3 structural constituent of cytoskeleton GO:0005200 9.63 DES GFAP INA
4 sequence-specific DNA binding GO:0043565 9.63 MYC MYOD1 MYOG OTX2 TP53 TP63
5 p53 binding GO:0002039 9.61 SMARCB1 TP53 TP63
6 E-box binding GO:0070888 9.43 MYC MYOD1 MYOG
7 MDM2/MDM4 family protein binding GO:0097371 9.37 TP53 TP63
8 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.35 MYC MYCN MYOG OTX2 TP63
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.1 MYC MYCN MYOD1 MYOG OTX2 SMARCB1
10 DNA binding GO:0003677 10.08 MYC MYCN MYOD1 MYOG OTX2 SMARCB1

Sources for Medullomyoblastoma

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