MCID: MDL003
MIFTS: 35

Medullomyoblastoma malady

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Medullomyoblastoma

Aliases & Descriptions for Medullomyoblastoma:

Name: Medullomyoblastoma 12 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:3861
MeSH 42 D008527
NCIt 47 C3706
SNOMED-CT 64 24604009
UMLS 69 C0205833

Summaries for Medullomyoblastoma

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/superpathways are Neuroscience and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include brain and cerebellum, 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 153)
id Related Disease Score Top Affiliating Genes
1 glucosidase acid-1,4-alpha deficiency 10.4 DES GFAP
2 subacute leukemia 10.3 MB MYOG
3 heart leiomyosarcoma 10.3 DES MYOG
4 papillary tumor of the pineal region 10.3 GFAP SYP
5 glaucoma iridogoniodysgenesia 10.3 DES MB
6 brain stem ependymoma 10.3 GFAP SYP
7 vagina leiomyosarcoma 10.3 DES GFAP
8 intrahepatic bile duct adenoma 10.3 GFAP MYOG SYP
9 pilocytic astrocytoma of cerebellum 10.3 GFAP SYP
10 vulvar squamous papilloma 10.3 DES GFAP TP63
11 intrahepatic bile duct cystadenoma 10.3 DES MB MYOD1
12 transitional cell carcinoma 10.2 DES MB MYOD1
13 bile duct rhabdomyosarcoma 10.2 DES MB MYOD1
14 testis sarcoma 10.2 DES MYOD1 MYOG
15 children's interstitial lung disease 10.2 GFAP SYP
16 mediastinal granular cell myoblastoma 10.2 GFAP SAG SYP
17 brain stem infarction 10.2 MB MYOD1 MYOG
18 pneumothorax 10.2 GFAP SAG SYP
19 scirrhous adenocarcinoma 10.2 DES SYP TP63
20 myelinoclastic diffuse sclerosis 10.2 ENO2 GFAP
21 infiltrating renal pelvis transitional cell carcinoma 10.2 ENO2 SYP
22 extraosseous osteosarcoma 10.2 DES MYC MYOD1
23 thymus small cell carcinoma 10.2 ENO2 SYP
24 malignant mixed mullerian tumor 10.2 DES ENO2
25 myxopapillary ependymoma 10.2 GFAP SMARCB1 SYP
26 van regemorter pierquin vamos syndrome 10.2 DES MB SMARCB1
27 liver fibrosarcoma 10.2 GFAP TP53
28 dysgerminoma of ovary 10.2 GFAP SMARCB1 SYP
29 skin glomus tumor 10.2 DES ENO2 GFAP
30 male reproductive system disease 10.2 DES GFAP INA SYP
31 nephrogenic adenoma of urinary bladder 10.2 ENO2 GFAP SYP
32 skeletal-extraskeletal angiomatosis 10.2 ENO2 SYP
33 c-p angle neurinoma 10.2 DES GFAP SMARCB1
34 temporal lobe neoplasm 10.2 GFAP SMARCB1 SYP
35 superior vena cava syndrome 10.2 ENO2 GFAP SYP
36 melanotic neurilemmoma 10.2 GFAP SMARCB1 SYP
37 extracutaneous mastocytoma 10.2 DES MB MYCN
38 microsporidiosis 10.2 ENO2 MB SYP
39 congenital muscular dystrophy with hyperlaxity 10.2 DES ENO2 SYP
40 hyperpituitarism 10.2 DES ENO2 MB
41 mediastinum rhabdomyosarcoma 10.2 MB MYOD1 MYOG
42 prolactin producing pituitary tumor 10.2 ENO2 SYP
43 diabetes hypogonadism deafness mental retardation 10.2 GFAP MYCN SYP
44 cervical adenoid cystic carcinoma 10.2 GFAP TP53
45 ovarian cystadenoma 10.2 DES GFAP MB MYOD1
46 mixed type rhabdomyosarcoma 10.2 DES MB MYOD1 MYOG
47 advanced sleep-phase syndrome, familial, 2 10.2 DES MB MYOD1 SYP
48 granular cell leiomyosarcoma 10.2 ENO2 GFAP SYP
49 epimetaphyseal dysplasia cataract 10.2 ENO2 GFAP SYP
50 hormone producing pituitary cancer 10.1 MYOD1 MYOG SMARCB1

Graphical network of the top 20 diseases related to Medullomyoblastoma:



Diseases related to Medullomyoblastoma

Symptoms & Phenotypes for Medullomyoblastoma

UMLS symptoms related to Medullomyoblastoma:


headache, vomiting, gait ataxia

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.7 SMARCB1 TP53 TP63 DES GFAP IRGC
2 Increased proliferation GR00094-A 8.62 SMARCB1 TP53

MGI Mouse Phenotypes related to Medullomyoblastoma:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.26 MYCN MYOG OTX2 SMARCB1 SYP TP53
2 cardiovascular system MP:0005385 10.25 DES GFAP MB MYC MYCN MYOD1
3 growth/size/body region MP:0005378 10.21 MYCN MYOD1 MYOG OTX2 PPP1R12A SMARCB1
4 cellular MP:0005384 10.19 TP53 TP63 DES ENO2 GFAP MB
5 homeostasis/metabolism MP:0005376 10.18 DES GFAP MB MYC MYCN MYOD1
6 mortality/aging MP:0010768 10.15 GFAP MB MYC MYCN MYOD1 MYOG
7 muscle MP:0005369 10.1 PPP1R12A SMARCB1 TP53 TP63 DES GFAP
8 digestive/alimentary MP:0005381 10.08 OTX2 PPP1R12A SMARCB1 TP53 TP63 GFAP
9 embryo MP:0005380 10.06 MB MYC MYCN MYOG OTX2 SMARCB1
10 nervous system MP:0003631 9.96 ENO2 GFAP INA MYC MYCN OTX2
11 normal MP:0002873 9.85 GFAP INA MYC MYCN MYOD1 MYOG
12 respiratory system MP:0005388 9.56 ENO2 MB MYCN MYOD1 MYOG OTX2
13 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:

39
Brain, Cerebellum

Publications for Medullomyoblastoma

Articles related to Medullomyoblastoma:

(show all 35)
id Title Authors Year
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

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:

id Super pathways Score Top Affiliating Genes
1 11.86 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:

id Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.55 MYC OTX2 SMARCB1 TP53 TP63
2 contractile fiber GO:0043292 9.26 DES PPP1R12A
3 nuclear chromatin GO:0000790 9.26 MYOD1 SMARCB1 TP53 TP63
4 intermediate filament cytoskeleton GO:0045111 8.8 DES GFAP INA

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.95 INA MYOD1 MYOG SMARCB1 TP53 TP63
2 transcription from RNA polymerase II promoter GO:0006366 9.92 MYC MYOD1 OTX2 TP53 TP63
3 chromatin remodeling GO:0006338 9.69 MYC SMARCB1 TP63
4 cellular response to drug GO:0035690 9.63 MYC PPP1R12A TP53
5 myoblast differentiation GO:0045445 9.57 MYOD1 MYOG
6 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.56 TP53 TP63
7 oxygen transport GO:0015671 9.55 MB MYC
8 myotube differentiation GO:0014902 9.54 MYOD1 MYOG
9 cellular response to UV GO:0034644 9.5 MYC TP53 TP63
10 positive regulation of transcription, DNA-templated GO:0045893 9.5 MYC MYCN MYOD1 MYOG OTX2 TP53
11 mitotic G1 DNA damage checkpoint GO:0031571 9.49 TP53 TP63
12 positive regulation of skeletal muscle fiber development GO:0048743 9.43 MYOD1 MYOG
13 response to gamma radiation GO:0010332 9.43 MYC TP53 TP63
14 muscle cell fate commitment GO:0042693 9.4 MYOD1 MYOG
15 positive regulation of oxidative phosphorylation GO:1903862 9.37 MYC MYOG
16 positive regulation of mesenchymal cell proliferation GO:0002053 9.33 MYC MYCN TP63
17 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.28 MYC MYCN MYOD1 MYOG OTX2 PPP1R12A

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.8 MYC MYOD1 MYOG OTX2 TP63
2 transcription factor activity, sequence-specific DNA binding GO:0003700 9.7 MYC MYCN MYOD1 MYOG OTX2 TP53
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.67 MYC MYOG OTX2 TP63
4 structural constituent of cytoskeleton GO:0005200 9.61 DES GFAP INA
5 protein dimerization activity GO:0046983 9.56 MYC MYCN MYOD1 MYOG
6 p53 binding GO:0002039 9.5 SMARCB1 TP53 TP63
7 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.35 MYC MYOD1 MYOG OTX2 SMARCB1
8 E-box binding GO:0070888 8.8 MYC MYOD1 MYOG
9 DNA binding GO:0003677 10.06 MYC MYCN MYOD1 MYOG OTX2 SMARCB1

Sources for Medullomyoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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