MCID: MDL003
MIFTS: 35

Medullomyoblastoma malady

Categories: Cancer 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 glucosidase acid-1,4-alpha deficiency and subacute leukemia, and has symptoms including headache, vomiting and gait ataxia. An important gene associated with Medullomyoblastoma is MB (Myoglobin), and among its related pathways are Cytoskeleton remodeling Neurofilaments and Notch Pathway. 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 153)
idRelated DiseaseScoreTop Affiliating Genes
1glucosidase acid-1,4-alpha deficiency10.4DES, GFAP
2subacute leukemia10.3MB, MYOG
3heart leiomyosarcoma10.3DES, MYOG
4papillary tumor of the pineal region10.3GFAP, SYP
5glaucoma iridogoniodysgenesia10.3DES, MB
6brain stem ependymoma10.3GFAP, SYP
7vagina leiomyosarcoma10.3DES, GFAP
8intrahepatic bile duct adenoma10.3GFAP, MYOG, SYP
9pilocytic astrocytoma of cerebellum10.3GFAP, SYP
10vulvar squamous papilloma10.3DES, GFAP, TP63
11intrahepatic bile duct cystadenoma10.3DES, MB, MYOD1
12transitional cell carcinoma10.2DES, MB, MYOD1
13bile duct rhabdomyosarcoma10.2DES, MB, MYOD1
14testis sarcoma10.2DES, MYOD1, MYOG
15children's interstitial lung disease10.2GFAP, SYP
16mediastinal granular cell myoblastoma10.2GFAP, SAG, SYP
17brain stem infarction10.2MB, MYOD1, MYOG
18pneumothorax10.2GFAP, SAG, SYP
19scirrhous adenocarcinoma10.2DES, SYP, TP63
20myelinoclastic diffuse sclerosis10.2ENO2, GFAP
21infiltrating renal pelvis transitional cell carcinoma10.2ENO2, SYP
22extraosseous osteosarcoma10.2DES, MYC, MYOD1
23thymus small cell carcinoma10.2ENO2, SYP
24malignant mixed mullerian tumor10.2DES, ENO2
25myxopapillary ependymoma10.2GFAP, SMARCB1, SYP
26van regemorter pierquin vamos syndrome10.2DES, MB, SMARCB1
27liver fibrosarcoma10.2GFAP, TP53
28dysgerminoma of ovary10.2GFAP, SMARCB1, SYP
29skin glomus tumor10.2DES, ENO2, GFAP
30male reproductive system disease10.2DES, GFAP, INA, SYP
31nephrogenic adenoma of urinary bladder10.2ENO2, GFAP, SYP
32skeletal-extraskeletal angiomatosis10.2ENO2, SYP
33c-p angle neurinoma10.2DES, GFAP, SMARCB1
34temporal lobe neoplasm10.2GFAP, SMARCB1, SYP
35superior vena cava syndrome10.2ENO2, GFAP, SYP
36melanotic neurilemmoma10.2GFAP, SMARCB1, SYP
37extracutaneous mastocytoma10.2DES, MB, MYCN
38microsporidiosis10.2ENO2, MB, SYP
39congenital muscular dystrophy with hyperlaxity10.2DES, ENO2, SYP
40hyperpituitarism10.2DES, ENO2, MB
41mediastinum rhabdomyosarcoma10.2MB, MYOD1, MYOG
42prolactin producing pituitary tumor10.2ENO2, SYP
43diabetes hypogonadism deafness mental retardation10.2GFAP, MYCN, SYP
44cervical adenoid cystic carcinoma10.2GFAP, TP53
45ovarian cystadenoma10.2DES, GFAP, MB, MYOD1
46mixed type rhabdomyosarcoma10.2DES, MB, MYOD1, MYOG
47advanced sleep-phase syndrome, familial, 210.2DES, MB, MYOD1, SYP
48granular cell leiomyosarcoma10.2ENO2, GFAP, SYP
49epimetaphyseal dysplasia cataract10.2ENO2, GFAP, SYP
50hormone producing pituitary cancer10.1MYOD1, MYOG, SMARCB1

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-A10.1SMARCB1, TP53
2GR00235-A5.6DES, GFAP, IRGC, MB, MYCN, MYOD1

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

41 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1GFAP, MYCN, OTX2, SAG, SMARCB1, TP53
2MP:00053807.9MB, MYC, MYCN, MYOG, OTX2, SMARCB1
3MP:00053887.4ENO2, MB, MYCN, MYOD1, MYOG, OTX2
4MP:00053817.2GFAP, MYC, MYCN, OTX2, PPP1R12A, SMARCB1
5MP:00028737.2GFAP, INA, MYC, MYCN, MYOD1, MYOG
6MP:00053847.2DES, ENO2, GFAP, MB, MYC, MYCN
7MP:00036316.9ENO2, GFAP, INA, MYC, MYCN, OTX2
8MP:00053866.8DES, ENO2, GFAP, MYC, MYCN, MYOG
9MP:00053766.6DES, GFAP, MB, MYC, MYCN, MYOD1
10MP:00053856.6DES, GFAP, MB, MYC, MYCN, MYOD1
11MP:00107686.4DES, GFAP, MB, MYC, MYCN, MYOD1
12MP:00053696.3DES, GFAP, MB, MYC, MYCN, MYOD1
13MP:00053786.1ENO2, 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 with calcification: a case report. (18181837)
2008
10
Medullomyoblastoma: teratoid nature of a quite rare neoplasm. (18261773)
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. (2290468)
1990
25
Medullomyoblastoma in an adult. (2403482)
1990
26
Medullomyoblastoma: immunohistochemical and ultrastructural study]. (2281954)
1990
27
Medullomyoblastoma: a case report. (2819571)
1989
28
Medullomyoblastoma. A case report. (2561483)
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:004329210.4DES, PPP1R12A
3nuclear chromatinGO:00007909.4MYOD1, SMARCB1, TP53, TP63
4protein complexGO:00432348.6MYC, OTX2, SMARCB1, TP53, TP63

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:001567110.7MB, MYC
2positive regulation of oxidative phosphorylationGO:190386210.6MYC, MYOG
3muscle cell fate commitmentGO:004269310.5MYOD1, MYOG
4myoblast differentiationGO:004544510.5MYOD1, MYOG
5myotube differentiationGO:001490210.5MYOD1, MYOG
6positive regulation of skeletal muscle fiber developmentGO:004874310.5MYOD1, MYOG
7DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.3TP53, TP63
8mitotic G1 DNA damage checkpointGO:003157110.3TP53, TP63
9chromatin remodelingGO:000633810.2MYC, SMARCB1, TP63
10positive regulation of mesenchymal cell proliferationGO:000205310.1MYC, MYCN, TP63
11cellular response to UVGO:003464410.0MYC, TP53, TP63
12response to gamma radiationGO:00103329.9MYC, TP53, TP63
13cellular response to drugGO:00356909.8MYC, PPP1R12A, TP53
14cell differentiationGO:00301548.9INA, MYOD1, MYOG, SMARCB1, TP53, TP63
15transcription from RNA polymerase II promoterGO:00063668.6MYC, MYOD1, OTX2, TP53, TP63
16positive regulation of transcription, DNA-templatedGO:00458938.4MYC, MYCN, MYOD1, MYOG, OTX2, TP53
17positive regulation of transcription from RNA polymerase II promoterGO:00459447.5MYC, 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
2E-box bindingGO:007088810.2MYC, MYOD1, MYOG
3p53 bindingGO:00020399.9SMARCB1, TP53, TP63
4protein dimerization activityGO:00469839.7MYC, MYCN, MYOD1, MYOG
5sequence-specific DNA bindingGO:00435659.6MYC, MYOD1, MYOG, OTX2, TP63
6RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.5MYC, MYOD1, MYOG, OTX2, SMARCB1
7transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.3MYC, MYOG, OTX2, TP63
8transcription factor activity, sequence-specific DNA bindingGO:00037008.4MYC, MYCN, MYOD1, MYOG, OTX2, TP53
9DNA bindingGO:00036778.1MYC, MYCN, MYOD1, MYOG, OTX2, SMARCB1

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