MCID: ATY005
MIFTS: 35

Atypical Teratoid Rhabdoid Tumor malady

Cancer diseases category
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Summaries for Atypical Teratoid Rhabdoid Tumor

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8Disease Ontology, 65Wikipedia, 47OMIM, 33MalaCards
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Disease Ontology:8 An embryonal cancer that is usually located in the brain, but can occur anywhere in the central nervous system.

MalaCards: Atypical Teratoid Rhabdoid Tumor, also known as atypical teratoid/rhabdoid tumor, is related to medulloblastoma and rhabdoid tumor. An important gene associated with Atypical Teratoid Rhabdoid Tumor is SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1). Affiliated tissues include brain, pineal and cerebellum, and related mouse phenotypes are pigmentation and growth/size/body.

Wikipedia:65 Atypical teratoid rhabdoid tumor (AT/RT) is a rare tumor usually diagnosed in childhood. Although... more...

Description from OMIM:47 609322

Aliases & Classifications for Atypical Teratoid Rhabdoid Tumor

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8Disease Ontology, 10DISEASES, 62UMLS, 40NCIt, 47OMIM, 58SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases


Aliases & Descriptions:

atypical teratoid rhabdoid tumor 8 10
atypical teratoid/rhabdoid tumor 8 62
rhabdoid tumor of the cns 8


External Ids:

Disease Ontology8 DOID:2129
NCIt40 C6906
SNOMED-CT58 128792003
OMIM47 609322

Related Diseases for Atypical Teratoid Rhabdoid Tumor

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Atypical Teratoid Rhabdoid Tumor:



Diseases related to atypical teratoid rhabdoid tumor

Symptoms for Atypical Teratoid Rhabdoid Tumor

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47OMIM
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Clinical features from OMIM:

609322

Drugs & Therapeutics for Atypical Teratoid Rhabdoid Tumor

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Atypical Teratoid Rhabdoid Tumor

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Anatomical Context for Atypical Teratoid Rhabdoid Tumor

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33MalaCards
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MalaCards organs/tissues related to Atypical Teratoid Rhabdoid Tumor:

33
Brain, Pineal, Cerebellum, Spinal cord, Lung

Animal Models for Atypical Teratoid Rhabdoid Tumor or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Atypical Teratoid Rhabdoid Tumor:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0CRX, CLDN6
2MP:00053788.6CLDN6, SMARCB1, AURKA
3MP:00053808.5CLDN6, SMARCB1, AURKA

Publications for Atypical Teratoid Rhabdoid Tumor

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52PubMed
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Articles related to Atypical Teratoid Rhabdoid Tumor:

(show top 50)    (show all 149)
idTitleAuthorsYear
1
Frequent overexpression of HMGA2 in human atypical teratoid/rhabdoid tumor and its correlation with let-7a3/let-7b miRNA. (24423609)
2014
2
Large congenital melanocytic nevi with atypical teratoid/rhabdoid tumor. (23519929)
2013
3
CRX/OTX3: a useful marker in the differential diagnosis of tumors of the pineal region and indicator of photoreceptor differentiation in medulloblastomas and atypical teratoid rhabdoid tumors. (23235340)
2013
4
Atypical teratoid rhabdoid tumor: improved long-term survival with an intensive multimodal therapy and delayed radiotherapy. The Medical University of Vienna Experience 1992-2012. (24402832)
2013
5
High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. (23074045)
2013
6
Epigenetic modification after inhibition of IGF-1R signaling in human central nervous system atypical teratoid rhabdoid tumor (AT/RT). (23624780)
2013
7
Rapidly progressive primary leptomeningeal atypical teratoid/rhabdoid tumor: a report of 2 cases. (22378667)
2012
8
Evaluation of cerebellar mutism by arterial spin-labeling perfusion magnetic resonance imaging in a patient with atypical teratoid/rhabdoid tumor (AT/RT): a case report. (22476660)
2012
9
Treatment-related morbidity in atypical teratoid/rhabdoid tumor: multifocal necrotizing leukoencephalopathy. (21613772)
2011
10
Supratentorial atypical teratoid rhabdoid tumor: An uncommon childhood tumor. (21977104)
2011
11
Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. (21566516)
2011
12
Atypical teratoid/rhabdoid tumor: short clinical description and insight into possible mechanism of the disease. (21159066)
2011
13
High expression of BMP pathway genes distinguishes a subset of atypical teratoid/rhabdoid tumors associated with shorter survival. (21946044)
2011
14
Adult variant of atypical teratoid/rhabdoid tumor: immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica. (20705400)
2010
15
Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. (19902524)
2010
16
Primary atypical teratoid/rhabdoid tumor of the spine in an infant. (21311641)
2010
17
Claudin 6 is a positive marker for atypical teratoid/rhabdoid tumors. (19220299)
2010
18
Disabling c-Myc in childhood medulloblastoma and atypical teratoid/rhabdoid tumor cells by the potent G-quadruplex interactive agent S2T1-6OTD. (20053783)
2010
19
Atypical teratoid rhabdoid tumor of the brain: case series and review of literature. (19484251)
2009
20
Ultrastructural evidence of ependymal differentiation in a genetically proven atypical teratoid/rhabdoid tumor. (19554334)
2009
21
Atypical teratoid/rhabdoid tumor of the spine in a 4-year-old girl. (19073850)
2008
22
Atypical teratoid/rhabdoid tumor of the central nervous system associated with congenital cataract. (18723966)
2008
23
Successful multimodal therapies for a primary atypical teratoid/rhabdoid tumor in the cervical spine. (18703889)
2008
24
Central nervous system atypical teratoid rhabdoid tumor: experience at the National Institute of Pediatrics, Mexico City. (17876589)
2008
25
Identification of CD133-positive radioresistant cells in atypical teratoid/rhabdoid tumor. (18509505)
2008
26
Spinal atypical teratoid/rhabdoid tumor in a 7-year-old boy. (17494515)
2007
27
Atypical teratoid/rhabdoid tumor of the spinal canal. (16411024)
2006
28
Atypical teratoid rhabdoid tumor in a child with neurofibromatosis 1. (16086409)
2006
29
Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study. (16443951)
2006
30
Epigenetic repression of RASSF1A but not CASP8 in supratentorial PNET (sPNET) and atypical teratoid/rhabdoid tumors (AT/RT) of childhood. (16186793)
2006
31
Impact of radiotherapy for pediatric CNS atypical teratoid/rhabdoid tumor (single institute experience). (16406394)
2006
32
Continuous remission of newly diagnosed and relapsed central nervous system atypical teratoid/rhabdoid tumor. (15803379)
2005
33
Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. (15779233)
2005
34
Elevation of plasma and cerebrospinal fluid osteopontin levels in patients with atypical teratoid/rhabdoid tumor. (15842057)
2005
35
E, N-cadherins and beta-catenin expression in medulloblastoma and atypical teratoid/rhabdoid tumor. (15508347)
2004
36
Atypical teratoid/rhabdoid tumor of the cerebellum: report of two infantile cases. (15037476)
2004
37
Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. (15254056)
2004
38
Atypical teratoid/rhabdoid tumor of the central nervous system in children: an atypical series and review. (12759791)
2003
39
The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors. (11782395)
2002
40
Primary intracranial atypical teratoid/rhabdoid tumor in a child: a case report. (12378033)
2002
41
Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. (12429635)
2002
42
Atypical teratoid/rhabdoid tumor or medulloblastoma? (11344497)
2001
43
CSF cytology of atypical teratoid/rhabdoid tumor of the brain in a two-year-old girl: a case report. (11074628)
2000
44
Atypical teratoid/rhabdoid tumor of the central nervous system: a comparative study with primitive neuroectodermal tumor/medulloblastoma. (10805090)
2000
45
Spinal atypical teratoid/rhabdoid tumor in an infant. (10867562)
2000
46
Atypical teratoid/rhabdoid tumor--a stereogram unveiled. (10331072)
1999
47
Simultaneous presentation of atypical teratoid/rhabdoid tumor in siblings. (10448873)
1999
48
Atypical teratoid/rhabdoid tumor of the CNS: cytopathology and immunohistochemistry of insulin-like growth factor-II, insulin-like growth factor receptor type 1, cathepsin D, and Ki-67. (10229502)
1999
49
Characterization of a primary central nervous system atypical teratoid/rhabdoid tumor and derivative cell line: immunophenotype and neoplastic properties. (9786246)
1998
50
Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. (9206002)
1997

Variations for Atypical Teratoid Rhabdoid Tumor

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Expression for genes affiliated with Atypical Teratoid Rhabdoid Tumor

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Atypical Teratoid Rhabdoid Tumor

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Pathways for genes affiliated with Atypical Teratoid Rhabdoid Tumor

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Compounds for genes affiliated with Atypical Teratoid Rhabdoid Tumor

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GO Terms for genes affiliated with Atypical Teratoid Rhabdoid Tumor

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16Gene Ontology
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Biological processes related to Atypical Teratoid Rhabdoid Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:0459449.3CRX, SMARCB1

Products for genes affiliated with Atypical Teratoid Rhabdoid Tumor

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Sources for Atypical Teratoid Rhabdoid Tumor

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet