MCID: ATY005
MIFTS: 37

Atypical Teratoid Rhabdoid Tumor malady

Neuronal diseases, Cancer diseases, Rare diseases categories

Summaries for Atypical Teratoid Rhabdoid Tumor

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Disease Ontology:9 A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.

MalaCards based summary: Atypical Teratoid Rhabdoid Tumor, also known as atypical teratoid/rhabdoid tumor, is related to medulloblastoma and rhabdoid tumor, and has symptoms including nausea and vomiting, neoplasm of the nervous system and hydrocephalus. 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:63 Atypical teratoid rhabdoid tumor (AT/RT) is a rare tumor usually diagnosed in childhood. Although... more...

Aliases & Classifications for Atypical Teratoid Rhabdoid Tumor

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Atypical Teratoid Rhabdoid Tumor, Aliases & Descriptions:

Name: Atypical Teratoid Rhabdoid Tumor 9 11 47
Atypical Teratoid/rhabdoid Tumor 9 60
 
Rhabdoid Tumor of the Cns 9
Atrt 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

47
atypical teratoid rhabdoid tumor:
Prevalence: 1-9/100000 (Austria); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: adolescent,early childhood,infantile,late childhood,stillbirth


External Ids:

Disease Ontology9 DOID:2129
NCIt38 C6906
SNOMED-CT55 128792003
Orphanet47 99966

Related Diseases for Atypical Teratoid Rhabdoid Tumor

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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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Symptoms:

 47 (show all 16)
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hydrocephaly
  • facial pain/cephalalgia/migraine
  • ataxia/incoordination/trouble of the equilibrium
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • sleep and vigilance disorders
  • muscle weakness/flaccidity
  • restricted joint mobility/joint stiffness/ankylosis
  • early death/lethality
  • intracranial/cerebral calcifications
  • cranial nerves palsy
  • acute palsy

HPO human phenotypes related to Atypical Teratoid Rhabdoid Tumor:

(show all 14)
id Description Frequency HPO Source Accession
1 nausea and vomiting hallmark (90%) HP:0002017
2 neoplasm of the nervous system hallmark (90%) HP:0004375
3 hydrocephalus typical (50%) HP:0000238
4 macrocephaly typical (50%) HP:0000256
5 seizures typical (50%) HP:0001250
6 muscle weakness typical (50%) HP:0001324
7 limitation of joint mobility typical (50%) HP:0001376
8 migraine typical (50%) HP:0002076
9 incoordination typical (50%) HP:0002311
10 sleep disturbance typical (50%) HP:0002360
11 hemiplegia/hemiparesis typical (50%) HP:0004374
12 cerebral calcification occasional (7.5%) HP:0002514
13 cranial nerve paralysis occasional (7.5%) HP:0006824
14 cerebral palsy occasional (7.5%) HP:0100021

Drugs & Therapeutics for Atypical Teratoid Rhabdoid Tumor

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Drug clinical trials:

Search ClinicalTrials for Atypical Teratoid Rhabdoid Tumor

Search NIH Clinical Center for Atypical Teratoid Rhabdoid Tumor

Genetic Tests for Atypical Teratoid Rhabdoid Tumor

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Anatomical Context for Atypical Teratoid Rhabdoid Tumor

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MalaCards organs/tissues related to Atypical Teratoid Rhabdoid Tumor:

31
Brain, Pineal, Cerebellum, Spinal cord, Lung, Temporal lobe

Animal Models for Atypical Teratoid Rhabdoid Tumor or affiliated genes

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MGI Mouse Phenotypes related to Atypical Teratoid Rhabdoid Tumor:

35
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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Articles related to Atypical Teratoid Rhabdoid Tumor:

(show top 50)    (show all 173)
idTitleAuthorsYear
1
Atypical teratoid/rhabdoid tumor (AT/RT) arising from the acoustic nerve in a young adult: a case report and a review of literature. (25634176)
2015
2
Intracranial atypical teratoid rhabdoid tumor: current management and a single institute experience of 15 patients from north India. (25646852)
2015
3
Primary atypical teratoid/rhabdoid tumor of central nervous system in children: a clinicopathological analysis and review of literature in China. (24966951)
2014
4
A gene signature for a long-term survivor of an atypical teratoid/rhabdoid tumor. (25052142)
2014
5
Atypical teratoid/rhabdoid tumor in sellar turcica in an adult: A case report and review of the literature. (24949218)
2014
6
Frequent overexpression of HMGA2 in human atypical teratoid/rhabdoid tumor and its correlation with let-7a3/let-7b miRNA. (24423609)
2014
7
Atypical teratoid rhabdoid tumor in childhood, 15 cases of a single institute experience. (24448710)
2014
8
Large congenital melanocytic nevi with atypical teratoid/rhabdoid tumor. (23519929)
2013
9
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
10
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
11
High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. (23074045)
2013
12
Epigenetic modification after inhibition of IGF-1R signaling in human central nervous system atypical teratoid rhabdoid tumor (AT/RT). (23624780)
2013
13
Temporal lobe atypical teratoid/ rhabdoid tumor in a 24-year old adult female. (24455633)
2013
14
Treatment-related morbidity in atypical teratoid/rhabdoid tumor: multifocal necrotizing leukoencephalopathy. (21613772)
2011
15
Supratentorial atypical teratoid rhabdoid tumor: An uncommon childhood tumor. (21977104)
2011
16
Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. (21566516)
2011
17
Atypical teratoid/rhabdoid tumor: short clinical description and insight into possible mechanism of the disease. (21159066)
2011
18
High expression of BMP pathway genes distinguishes a subset of atypical teratoid/rhabdoid tumors associated with shorter survival. (21946044)
2011
19
Adult variant of atypical teratoid/rhabdoid tumor: immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica. (20705400)
2010
20
Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. (19902524)
2010
21
Claudin 6 is a positive marker for atypical teratoid/rhabdoid tumors. (19220299)
2010
22
Disabling c-Myc in childhood medulloblastoma and atypical teratoid/rhabdoid tumor cells by the potent G-quadruplex interactive agent S2T1-6OTD. (20053783)
2010
23
Atypical teratoid rhabdoid tumor of the brain: case series and review of literature. (19484251)
2009
24
Ultrastructural evidence of ependymal differentiation in a genetically proven atypical teratoid/rhabdoid tumor. (19554334)
2009
25
Atypical teratoid/rhabdoid tumor of the spine in a 4-year-old girl. (19073850)
2008
26
Atypical teratoid/rhabdoid tumor of the central nervous system associated with congenital cataract. (18723966)
2008
27
Successful multimodal therapies for a primary atypical teratoid/rhabdoid tumor in the cervical spine. (18703889)
2008
28
Central nervous system atypical teratoid rhabdoid tumor: experience at the National Institute of Pediatrics, Mexico City. (17876589)
2008
29
Atypical teratoid/rhabdoid tumor of the spinal canal. (16411024)
2006
30
Atypical teratoid rhabdoid tumor in a child with neurofibromatosis 1. (16086409)
2006
31
Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study. (16443951)
2006
32
Epigenetic repression of RASSF1A but not CASP8 in supratentorial PNET (sPNET) and atypical teratoid/rhabdoid tumors (AT/RT) of childhood. (16186793)
2006
33
Continuous remission of newly diagnosed and relapsed central nervous system atypical teratoid/rhabdoid tumor. (15803379)
2005
34
Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. (15779233)
2005
35
Elevation of plasma and cerebrospinal fluid osteopontin levels in patients with atypical teratoid/rhabdoid tumor. (15842057)
2005
36
E, N-cadherins and beta-catenin expression in medulloblastoma and atypical teratoid/rhabdoid tumor. (15508347)
2004
37
Atypical teratoid/rhabdoid tumor of the cerebellum: report of two infantile cases. (15037476)
2004
38
Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. (15254056)
2004
39
Atypical teratoid/rhabdoid tumor of the central nervous system in children: an atypical series and review. (12759791)
2003
40
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
41
Primary intracranial atypical teratoid/rhabdoid tumor in a child: a case report. (12378033)
2002
42
Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. (12429635)
2002
43
Atypical teratoid/rhabdoid tumor or medulloblastoma? (11344497)
2001
44
CSF cytology of atypical teratoid/rhabdoid tumor of the brain in a two-year-old girl: a case report. (11074628)
2000
45
Atypical teratoid/rhabdoid tumor of the central nervous system: a comparative study with primitive neuroectodermal tumor/medulloblastoma. (10805090)
2000
46
Spinal atypical teratoid/rhabdoid tumor in an infant. (10867562)
2000
47
Atypical teratoid/rhabdoid tumor--a stereogram unveiled. (10331072)
1999
48
Simultaneous presentation of atypical teratoid/rhabdoid tumor in siblings. (10448873)
1999
49
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
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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Search GEO for disease gene expression data for Atypical Teratoid Rhabdoid Tumor.

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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Biological processes related to Atypical Teratoid Rhabdoid Tumor according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:00459449.3CRX, SMARCB1

Products for genes affiliated with Atypical Teratoid Rhabdoid Tumor

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Sources for Atypical Teratoid Rhabdoid Tumor

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet