MCID: MDL003
MIFTS: 33

Medullomyoblastoma malady

Cancer diseases category

Aliases & Classifications for Medullomyoblastoma

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Aliases & Descriptions for Medullomyoblastoma:

Name: Medullomyoblastoma 10 12 65


Classifications:



External Ids:

Disease Ontology10 DOID:3861
NCIt42 C3706
SNOMED-CT59 24604009
MeSH36 D008527

Summaries for Medullomyoblastoma

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MalaCards based summary: Medullomyoblastoma is related to rhabdomyosarcoma and medulloblastoma. 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 digestive/alimentary and vision/eye.

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 182)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma30.7GFAP, SMARCB1
2medulloblastoma29.4ENO2, GFAP, MYC, MYCN, OTX2, SMARCB1
3global disaccharide intolerance10.4DES, GFAP
4orbital cancer10.4MB, MYOG
5breast apocrine carcinoma10.4DES, MYOG
6giant congenital nevus10.4DES, MB
7cutaneous paget's disease10.3GFAP, SYP
8pineal parenchymal tumor of intermediate differenciation10.3GFAP, SYP
9kidney leiomyosarcoma10.3DES, GFAP
10ureter small cell carcinoma10.3GFAP, SYP
11orbit alveolar rhabdomyosarcoma10.3DES, MB
12chiari malformation type 110.3GFAP, SYP
13metal metabolism disorder10.3DES, MB
14lung oat cell carcinoma10.3DES, GFAP
15hantavirus pulmonary syndrome10.3GFAP, SYP
16orbital disease10.3MB, SYP
17lymphoplasmacyte-rich meningioma10.3DES, GFAP, MB
18subglottis squamous cell carcinoma10.3GFAP, SYP
19familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement10.3GFAP, SYP
20ophthalmia neonatorum10.3GFAP, SYP
21taylor's syndrome10.3GFAP, TP53
22carotenemia10.3GFAP, SYP
23lung hilum cancer10.3GFAP, MYOG, SYP
24histiocytoid hemangioma10.3MYC, SYP
25pineal gland astrocytoma10.3GFAP, TP53
26childhood cerebral astrocytoma10.3GFAP, TP53
27gastric liposarcoma10.3MB, TP53
28paranoid schizophrenia10.3GFAP, SMARCB1
29vulvar syringoma10.3DES, GFAP, TP63
30benign mediastinal neurilemmoma10.3GFAP, SYP
31meningitis10.3MB, TP53
32ovary adenocarcinoma10.3DES, SYP
33oligodendroglioma10.3GFAP, SYP
34uveal diseases10.3DES, MB, SMARCB1
35cerebellopontine angle tumor10.2GFAP, TP53
36mesenchymoma10.2DES, SMARCB1, SYP
37cervical incompetence10.2GFAP, SMARCB1, SYP
38cerebral creatine deficiency syndrome10.2GFAP, TP53
39unilateral retinoblastoma10.2DES, MB, MYCN
40pineal region yolk sac tumor10.2DES, SYP, TP63
41neuritis10.2DES, GFAP, SMARCB1
42pediculus humanus capitis infestation10.2GFAP, SMARCB1, SYP
43nail disease10.2GFAP, SMARCB1, SYP
44parasitic conjunctivitis10.2MYC, MYCN
45pineal region teratoma10.2GFAP, SAG, SYP
46pneumatosis cystoides intestinalis10.2GFAP, SMARCB1, SYP
47rhabdomyomatous mesenchymal hamartoma10.2DES, SMARCB1, SYP
48pleural cancer10.2DES, MB, TP53
49desmoplastic small round cell tumor10.2GFAP, MYCN, SYP
50pituitary adenoma10.2GFAP, SAG, SYP

Graphical network of the top 20 diseases related to Medullomyoblastoma:



Diseases related to medullomyoblastoma

Symptoms for Medullomyoblastoma

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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:

33
Cerebellum, Brain

Animal Models for Medullomyoblastoma or affiliated genes

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MGI Mouse Phenotypes related to Medullomyoblastoma:

38 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8GFAP, MYC, MYCN, OTX2, SMARCB1, TP53
2MP:00053918.6GFAP, MYCN, OTX2, SAG, SMARCB1, TP53
3MP:00053828.6ENO2, MYC, MYCN, OTX2, TP53, TP63
4MP:00053908.5MYC, MYCN, MYOD1, MYOG, OTX2, TP53
5MP:00053808.3MB, MYC, MYCN, MYOG, OTX2, SMARCB1
6MP:00053857.8DES, GFAP, MB, MYC, MYCN, MYOD1
7MP:00053847.8ENO2, GFAP, MB, MYC, MYCN, OTX2
8MP:00053697.7DES, GFAP, MB, MYC, MYCN, MYOD1
9MP:00053787.5GFAP, MB, MYC, MYCN, MYOD1, MYOG
10MP:00028737.5GFAP, INA, MYC, MYCN, MYOD1, MYOG
11MP:00053887.4ENO2, MB, MYCN, MYOD1, MYOG, OTX2
12MP:00053867.3DES, ENO2, GFAP, MYC, MYCN, MYOG
13MP:00036316.8ENO2, GFAP, INA, MYC, MYCN, OTX2
14MP:00053766.8DES, GFAP, MB, MYC, MYCN, MYOD1
15MP:00107686.7DES, GFAP, MB, MYC, MYCN, MYOD1

Publications for Medullomyoblastoma

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Articles related to Medullomyoblastoma:

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MYC, MYCN
2
Show member pathways
9.5DES, GFAP, INA
3
Show member pathways
9.3MYC, OTX2, TP53, TP63
48.5ENO2, GFAP, MYCN, SAG, SYP

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
1contractile fiberGO:00432929.8DES, PPP1R12A
2protein complexGO:00432349.0MYC, OTX2, SMARCB1, TP53, TP63
3nuclear chromatinGO:00007908.7MYOD1, SMARCB1, TP53, TP63

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:001567110.7MB, MYC
2DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.4TP53, TP63
3positive regulation of skeletal muscle fiber developmentGO:004874310.2MYOD1, MYOG
4muscle cell fate commitmentGO:004269310.2MYOD1, MYOG
5chromatin remodelingGO:000633810.1MYC, SMARCB1, TP63
6response to gamma radiationGO:001033210.1MYC, TP53, TP63
7myotube differentiationGO:001490210.1MYOD1, MYOG
8positive regulation of myoblast fusionGO:19017419.9MYOD1, MYOG
9cellular response to UVGO:00346449.8MYC, TP53, TP63
10myoblast differentiationGO:00454459.6MYOD1, MYOG
11mitotic G1 DNA damage checkpointGO:00315719.5TP53, TP63
12cell differentiationGO:00301548.9INA, OTX2, SMARCB1, TP53, TP63
13regulation of transcription from RNA polymerase II promoterGO:00063578.6MYCN, MYOD1, OTX2, SMARCB1, TP53
14positive regulation of transcription, DNA-templatedGO:00458938.2MYC, MYCN, MYOD1, MYOG, OTX2, TP53
15positive regulation of transcription from RNA polymerase II promoterGO:00459447.4MYC, MYOD1, MYOG, OTX2, PPP1R12A, SMARCB1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1p53 bindingGO:000203910.0SMARCB1, TP53, TP63
2E-box bindingGO:00708889.8MYC, MYOD1, MYOG
3structural constituent of cytoskeletonGO:00052009.5DES, GFAP, INA
4transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.4MYC, MYOG, OTX2, TP53, TP63
5protein dimerization activityGO:00469839.3MYC, MYCN, MYOD1, MYOG
6RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.1MYC, MYOD1, MYOG, OTX2, SMARCB1
7transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.1MYOD1, MYOG, TP53
8sequence-specific DNA bindingGO:00435658.6MYOD1, MYOG, OTX2, TP53, TP63
9DNA bindingGO:00036777.8MYC, MYCN, MYOD1, MYOG, OTX2, SMARCB1
10transcription factor activity, sequence-specific DNA bindingGO:00037007.7MYC, MYCN, MYOD1, MYOG, OTX2, TP53

Sources for Medullomyoblastoma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet