MCID: MDL003
MIFTS: 36

Medullomyoblastoma malady

Categories: Cancer diseases, Immune diseases, Blood diseases, Neuronal diseases

Aliases & Classifications for Medullomyoblastoma

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Aliases & Descriptions for Medullomyoblastoma:

Name: Medullomyoblastoma 11 13 68

Classifications:



External Ids:

Disease Ontology11 DOID:3861
MeSH39 D008527
SNOMED-CT62 24604009
NCIt45 C3706

Summaries for Medullomyoblastoma

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MalaCards based summary: Medullomyoblastoma is related to medulloblastoma and salcedo syndrome, and has symptoms including headache, vomiting and gait ataxia. An important gene associated with Medullomyoblastoma is MB (Myoglobin), and among its related pathways are Notch Pathway and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include cerebellum and brain, and related mouse phenotypes are Increased proliferation and Decreased viability in esophageal squamous lineage.

Related Diseases for Medullomyoblastoma

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

(show top 50)    (show all 172)
idRelated DiseaseScoreTop Affiliating Genes
1medulloblastoma27.7ENO2, GFAP, MYC, MYCN, OTX2, SMARCB1
2salcedo syndrome10.8DES, GFAP
3spindle cell rhabdomyosarcoma10.7MB, MYOG
4central nervous system leiomyosarcoma10.7DES, MYOG
5geleophysic dwarfism10.7DES, MB
6absence of fingerprints congenital milia10.7DES, MB
7papillary glioneuronal tumor10.7GFAP, SYP
8lice infestation10.7GFAP, SYP
9chondroblastoma10.7DES, GFAP
10soft tissue peripheral neuroepithelioma10.7DES, MB
11chiari malformation type 410.7GFAP, SYP
12cauda equina neoplasm10.7GFAP, SYP
13pulmonary venoocclusive disease10.7DES, GFAP
14glomus tumor10.6GFAP, SYP
15gastrointestinal neuroendocrine benign tumor10.6MB, SYP
16jewett-marshall bladder cancer10.6GFAP, SYP
17lumbar plexus neoplasm10.6GFAP, SYP
18urethra adenocarcinoma10.6SYP, TP63
19pilomyxoid astrocytoma10.6GFAP, SYP
20bladder flat intraepithelial lesion10.6GFAP, MYOG, SYP
21cauda equina intradural extramedullary astrocytoma10.6GFAP, SYP
22gallbladder sarcoma10.6DES, MYOD1
23familial long qt syndrome10.5MYOD1, MYOG
24gallbladder leiomyosarcoma10.5DES, GFAP, SYP
252q33.1 microdeletion syndrome10.5ENO2, SYP
26benign breast phyllodes tumor10.5SYP, TP63
27ependymoblastoma10.5GFAP, INA, SYP
28choroid disease10.5GFAP, SYP
29phencyclidine abuse10.5SMARCB1, SYP
30vitamin metabolic disorder10.5GFAP, SYP
31skin meningioma10.5GFAP, TP53
32transitional papilloma10.5DES, MB, MYOD1
33pseudoglandular variant testicular seminoma10.5GFAP, SMARCB1
34prostate rhabdomyosarcoma10.5DES, MB, MYOD1
35glomeruloid hemangioma10.5GFAP, TP53
36isolated ectopia lentis10.5DES, ENO2
37pineoblastoma10.5GFAP, SYP
38breast rhabdomyosarcoma10.5DES, MYOD1, MYOG
39lyme disease - neurological complications10.5ENO2, GFAP
40colonic pseudo-obstruction10.5GFAP, SMARCB1
41paranasal sinus cancer10.5ENO2, SYP
42malignant granular cell esophageal tumor10.5GFAP, SAG, SYP
43infiltrating lipoma10.5GFAP, TP53
44esophagus small cell carcinoma10.4ENO2, SYP
45pediatric fibrosarcoma10.4MB, MYOD1, MYOG
46adult ependymoblastoma10.4MB, TP53
47acquired night blindness10.4DES, MYOD1
48renal pelvis inverted papilloma10.4GFAP, TP53
49hing torack dowston syndrome10.4ENO2, SYP
50median neuropathy10.4MB, TP53

Graphical network of the top 20 diseases related to Medullomyoblastoma:



Diseases related to medullomyoblastoma

Symptoms & Phenotypes for Medullomyoblastoma

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UMLS symptoms related to Medullomyoblastoma:


headache, vomiting, gait ataxia

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00094-A10.3SMARCB1, TP53
2GR00235-A6.6DES, GFAP, IRGC, MB, MYCN, MYOD1

MGI Mouse Phenotypes related to Medullomyoblastoma according to GeneCards Suite gene sharing:

41 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5ENO2, MYC, MYCN, OTX2, TP53, TP63
2MP:00053918.4GFAP, MYCN, OTX2, SAG, SMARCB1, TP53
3MP:00053808.1MB, MYC, MYCN, MYOG, OTX2, SMARCB1
4MP:00053887.8ENO2, MB, MYCN, MYOD1, MYOG, OTX2
5MP:00053847.5DES, ENO2, GFAP, MB, MYC, MYCN
6MP:00028737.4GFAP, INA, MYC, MYCN, MYOD1, MYOG
7MP:00053817.3GFAP, MYC, MYCN, OTX2, PPP1R12A, SMARCB1
8MP:00036317.1ENO2, GFAP, INA, MYC, MYCN, OTX2
9MP:00053866.8DES, ENO2, GFAP, MYC, MYCN, MYOG
10MP:00053766.4DES, GFAP, MB, MYC, MYCN, MYOD1
11MP:00053696.4DES, GFAP, MB, MYC, MYCN, MYOD1
12MP:00053856.3DES, GFAP, MB, MYC, MYCN, MYOD1
13MP:00107686.2DES, GFAP, MB, MYC, MYCN, MYOD1
14MP:00053785.8ENO2, GFAP, MB, MYC, MYCN, MYOD1

Drugs & Therapeutics for Medullomyoblastoma

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Medullomyoblastoma

Genetic Tests for Medullomyoblastoma

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Anatomical Context for Medullomyoblastoma

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MalaCards organs/tissues related to Medullomyoblastoma:

36
Cerebellum, Brain

Publications for Medullomyoblastoma

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Articles related to Medullomyoblastoma:

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

Variations for Medullomyoblastoma

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Expression for genes affiliated with Medullomyoblastoma

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Search GEO for disease gene expression data for Medullomyoblastoma.

Pathways for genes affiliated with Medullomyoblastoma

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GO Terms for genes affiliated with Medullomyoblastoma

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeletonGO:004511110.4DES, GFAP, INA
2contractile fiberGO:004329210.1DES, PPP1R12A
3nuclear chromatinGO:00007909.6MYOD1, SMARCB1, TP53, TP63
4protein complexGO:00432348.8MYC, OTX2, SMARCB1, TP53, TP63

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:004510910.8DES, GFAP
2oxygen transportGO:001567110.7MB, MYC
3positive regulation of glial cell proliferationGO:006025210.7GFAP, MYC
4DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.5TP53, TP63
5mitotic G1 DNA damage checkpointGO:003157110.5TP53, TP63
6positive regulation of oxidative phosphorylationGO:190386210.4MYC, MYOG
7muscle cell fate commitmentGO:004269310.4MYOD1, MYOG
8myotube differentiationGO:001490210.4MYOD1, MYOG
9positive regulation of myoblast fusionGO:190174110.4MYOD1, MYOG
10positive regulation of skeletal muscle fiber developmentGO:004874310.4MYOD1, MYOG
11chromatin remodelingGO:000633810.3MYC, SMARCB1, TP63
12positive regulation of mesenchymal cell proliferationGO:000205310.2MYC, MYCN, TP63
13cellular response to UVGO:003464410.2MYC, TP53, TP63
14response to gamma radiationGO:001033210.1MYC, TP53, TP63
15cellular response to drugGO:00356909.7MYC, PPP1R12A, TP53
16transcription from RNA polymerase II promoterGO:00063668.8MYC, MYOD1, OTX2, TP53, TP63
17positive regulation of transcription, DNA-templatedGO:00458938.6MYC, MYCN, MYOD1, MYOG, OTX2, TP53
18positive regulation of transcription from RNA polymerase II promoterGO:00459447.4MYC, MYCN, MYOD1, MYOG, OTX2, PPP1R12A

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:000520010.5DES, GFAP, INA
2double-stranded DNA bindingGO:000369010.2MYC, TP53, TP63
3p53 bindingGO:000203910.1SMARCB1, TP53, TP63
4E-box bindingGO:007088810.1MYC, MYOD1, MYOG
5transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.6MYC, MYOG, OTX2, TP63
6RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.4MYC, MYOD1, MYOG, OTX2, SMARCB1
7sequence-specific DNA bindingGO:00435659.3MYC, MYOD1, MYOG, TP53, TP63
8transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.2MYOD1, MYOG, TP53
9transcription factor activity, sequence-specific DNA bindingGO:00037008.8MYC, MYCN, MYOD1, MYOG, TP53, TP63

Sources for Medullomyoblastoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet