MCID: MDL003
MIFTS: 39

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 vomiting, gait ataxia and headache. An important gene associated with Medullomyoblastoma is MB (Myoglobin), and among its related pathways/superpathways are Neuroscience and Spinal Cord Injury. Affiliated tissues include brain, lung and kidney, 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 203)
# Related Disease Score Top Affiliating Genes
1 neuroma 30.1 ENO2 GFAP SMARCB1
2 teratoma 29.9 ENO2 GFAP SYP TP53
3 embryonal rhabdomyosarcoma 29.9 DES MB MYCN MYOD1 MYOG
4 rhabdomyosarcoma 29.5 DES ENO2 MB MYCN MYOD1 MYOG
5 medulloblastoma 29.1 DES ENO2 GFAP MYC MYCN OTX2
6 myofibroma 10.3 DES MB
7 parachordoma 10.3 DES GFAP
8 syringocystadenoma papilliferum 10.3 DES GFAP
9 dysembryoplastic neuroepithelial tumor 10.3 GFAP SYP
10 chordoid meningioma 10.3 GFAP SYP
11 chiari malformation 10.3 GFAP SYP
12 large cell medulloblastoma 10.3 MYC SYP
13 venous hemangioma 10.3 MYC SYP
14 cornea cancer 10.3 GFAP TP63
15 horner's syndrome 10.3 DES MYOD1
16 gliomatosis peritonei 10.3 DES GFAP
17 pleomorphic rhabdomyosarcoma 10.3 MB MYOD1
18 panophthalmitis 10.3 SAG SYP
19 ossifying fibromyxoid tumor 10.3 DES ENO2
20 conventional leiomyosarcoma 10.3 MYOD1 MYOG
21 epithelioid leiomyosarcoma 10.3 DES ENO2
22 epulis 10.3 DES ENO2
23 orbit rhabdomyosarcoma 10.3 MB MYOG
24 cerebellar medulloblastoma 10.3 ENO2 GFAP
25 plexiform schwannoma 10.3 ENO2 GFAP
26 microcystic meningioma 10.3 ENO2 GFAP
27 sensory organ benign neoplasm 10.3 ENO2 SYP
28 olfactory nerve neoplasm 10.3 ENO2 SYP
29 cauda equina neoplasm 10.3 ENO2 SYP
30 middle ear adenoma 10.3 ENO2 SYP
31 pulmonary large cell neuroendocrine carcinoma 10.3 ENO2 SYP
32 endometrial small cell carcinoma 10.3 ENO2 SYP
33 papillary tumor of the pineal region 10.3 ENO2 SYP
34 giant cell myocarditis 10.3 DES MB
35 extraventricular neurocytoma 10.3 GFAP SYP
36 nodular medulloblastoma 10.3 GFAP SMARCB1
37 rhabdoid meningioma 10.3 GFAP SMARCB1
38 cutaneous leiomyosarcoma 10.2 DES GFAP
39 lung combined type small cell carcinoma 10.2 GFAP MYOG SYP
40 carotid body cancer 10.2 ENO2 SYP
41 mesenchymoma 10.2 DES MB MYOD1
42 medulloepithelioma 10.2 GFAP INA SYP
43 syringoma 10.2 DES GFAP TP63
44 sclerosing liposarcoma 10.2 MB TP53
45 chordoid glioma 10.2 GFAP TP53
46 malignant triton tumor 10.2 DES MB MYOD1
47 botryoid rhabdomyosarcoma 10.2 DES MB MYOD1
48 ependymoblastoma 10.2 GFAP TP53
49 mixed glioma 10.2 GFAP TP53
50 intracranial cysts 10.2 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:


vomiting, gait ataxia, headache

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 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.28 DES ENO2 GFAP MYC MYCN MYOG
2 cardiovascular system MP:0005385 10.26 DES GFAP MB MYC MYCN MYOD1
3 cellular MP:0005384 10.21 DES ENO2 GFAP MB MYC MYCN
4 growth/size/body region MP:0005378 10.21 ENO2 GFAP MB MYC MYCN MYOD1
5 homeostasis/metabolism MP:0005376 10.18 DES GFAP MB MYC MYCN MYOD1
6 mortality/aging MP:0010768 10.15 DES GFAP MB MYC MYCN MYOD1
7 muscle MP:0005369 10.1 DES GFAP MB MYC MYCN MYOD1
8 digestive/alimentary MP:0005381 10.08 GFAP MYC MYCN OTX2 PPP1R12A SMARCB1
9 embryo MP:0005380 10.06 MB MYC MYCN MYOG OTX2 SMARCB1
10 craniofacial MP:0005382 9.97 ENO2 MYC MYCN OTX2 TP53 TP63
11 nervous system MP:0003631 9.96 ENO2 GFAP INA MYC MYCN OTX2
12 normal MP:0002873 9.85 GFAP INA MYC MYCN MYOD1 MYOG
13 respiratory system MP:0005388 9.56 ENO2 MB MYCN MYOD1 MYOG OTX2
14 vision/eye MP:0005391 9.17 GFAP MYCN OTX2 SAG SMARCB1 TP53

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
Brain, Lung, Kidney, Liver, Bone, Cervix, Pineal

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 protein-containing complex GO:0032991 9.65 MYC OTX2 SMARCB1 TP53 TP63
2 contractile fiber GO:0043292 9.32 DES PPP1R12A
3 neurofilament GO:0005883 9.16 GFAP INA
4 intermediate filament cytoskeleton GO:0045111 9.13 DES GFAP INA
5 nuclear chromatin GO:0000790 9.02 MYC MYOD1 SMARCB1 TP53 TP63

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.93 INA MYOD1 MYOG SMARCB1 TP53 TP63
2 transcription by RNA polymerase II GO:0006366 9.73 MYC MYCN MYOD1 OTX2 TP53 TP63
3 chromatin remodeling GO:0006338 9.65 MYC SMARCB1 TP63
4 intermediate filament organization GO:0045109 9.57 DES GFAP
5 positive regulation of myoblast fusion GO:1901741 9.56 MYOD1 MYOG
6 positive regulation of glial cell proliferation GO:0060252 9.55 GFAP MYC
7 cellular response to drug GO:0035690 9.54 MYC PPP1R12A TP53
8 oxygen transport GO:0015671 9.52 MB MYC
9 myotube differentiation GO:0014902 9.51 MYOD1 MYOG
10 positive regulation of transcription, DNA-templated GO:0045893 9.5 MYC MYCN MYOD1 MYOG OTX2 TP53
11 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.43 MYCN TP53
12 positive regulation of skeletal muscle fiber development GO:0048743 9.4 MYOD1 MYOG
13 muscle cell fate commitment GO:0042693 9.32 MYOD1 MYOG
14 positive regulation of transcription by RNA polymerase II GO:0045944 9.28 MYC MYCN MYOD1 MYOG OTX2 PPP1R12A
15 positive regulation of oxidative phosphorylation GO:1903862 9.16 MYC MYOG
16 regulation of transcription, DNA-templated GO:0006355 10.04 MYC MYCN MYOD1 MYOG OTX2 TP53
17 multicellular organism development GO:0007275 10.01 INA MYOD1 MYOG OTX2 TP53 TP63

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific 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 structural constituent of cytoskeleton GO:0005200 9.63 DES GFAP INA
4 protein dimerization activity GO:0046983 9.62 MYC MYCN MYOD1 MYOG
5 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.55 MYC MYCN MYOG OTX2 TP63
6 p53 binding GO:0002039 9.54 SMARCB1 TP53 TP63
7 DNA-binding transcription factor activity GO:0003700 9.5 MYC MYCN MYOD1 MYOG OTX2 TP53
8 E-box binding GO:0070888 9.43 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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