MCID: ATY005
MIFTS: 50

Atypical Teratoid Rhabdoid Tumor malady

Neuronal, Cancer categories

Summaries for Atypical Teratoid Rhabdoid Tumor

Sources:
8Disease Ontology, 64Wikipedia, 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 rhabdoid tumor and ganglioglioma. 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), and among its related pathways are Glioma and Integrins in angiogenesis. The compounds estrogen and butyrate have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and lung, and related mouse phenotypes are reproductive system and muscle.

Wikipedia:64 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

Sources:
8Disease Ontology, 10DISEASES, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 47OMIM
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
atypical teratoid/rhabdoid tumor:
Inheritance: Sporadic; Age of onset: Childhood


Aliases & Descriptions:

atypical teratoid rhabdoid tumor 8 10
atypical teratoid/rhabdoid tumor 8 49 61
rhabdoid tumor of the cns 8
at/rt 49


External Ids:

Disease Ontology8 DOID:2129
NCIt40 C6906
SNOMED-CT57 128792003
OMIM47 609322

Related Diseases for Atypical Teratoid Rhabdoid Tumor

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Atypical Teratoid Rhabdoid Tumor via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 195)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdoid tumor32.1SMARCB1, SPP1, ACTC1, MUC1, IGF1R, IGF2
2ganglioglioma30.9GFAP, SYP
3choroid plexus carcinoma30.7SMARCB1
4acute leukemia30.5SMARCB1, HSP90AA1
5beckwith-wiedemann syndrome30.5IGF1R, IGF2
6childhood medulloblastoma10.5
7cerebral primitive neuroectodermal tumor10.4
8neurofibromatosis10.4
9canavan disease10.4
10supratentorial primitive neuroectodermal tumor10.4
11atypical neurofibroma10.4
12ectomesenchymoma10.4
13mutism10.4
14nodular medulloblastoma10.4
15pleomorphic xanthoastrocytoma10.4
16phelan-mcdermid syndrome10.4
17atypical mole syndrome10.4
18tuberculous meningitis10.4
19cataract, congenital10.4
20neuroblastoma10.0SYP
21hemangioma10.0ACTC1
22pituitary adenoma10.0SYP
23von hippel-lindau disease10.0RASSF1
24rhabdoid cancer10.0SMARCB1
25merkel cell carcinoma10.0SYP
26congenital mesoblastic nephroma10.0SMARCB1
27fasciitis10.0ACTC1
28medulloepithelioma10.0SYP
29melanotic neuroectodermal tumor10.0SYP
30sertoli-leydig cell tumor10.0MUC1
31infantile myofibromatosis10.0DES
32collecting duct carcinoma10.0SMARCB1
33osteofibrous dysplasia10.0SPP1
34rhabdoid tumors, somatic10.0
35cystadenocarcinoma10.0MUC1
36ductal carcinoma in situ10.0CCND1
37nephroblastoma10.0CTNNB1
38cervical squamous cell carcinoma10.0RASSF1
39multiple myeloma10.0CCND1
40hepatitis c10.0HSP90AA1
41oral cancer10.0CCND1
42esophageal cancer10.0CCND1
43giant cell glioblastoma10.0GFAP
44benign mesothelioma10.0SPP1
45papilloma10.0ACTC1, RASSF1
46craniopharyngioma10.0CTNNB1
47retroperitoneal leiomyosarcoma10.0SMARCB1
48hypoglycemia10.0IGF2
49schizophrenia10.0SYP
50myopathy10.0DES

Graphical network of the top 20 diseases related to Atypical Teratoid Rhabdoid Tumor:



Diseases related to atypical teratoid rhabdoid tumor

Clinical Features for Atypical Teratoid Rhabdoid Tumor

Sources:
47OMIM
See all sources

Clinical features from OMIM:

609322

Drugs & Therapeutics for Atypical Teratoid Rhabdoid Tumor

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Atypical Teratoid Rhabdoid Tumor

Drug clinical trials:

Search ClinicalTrials for Atypical Teratoid Rhabdoid Tumor

Search NIH Clinical Center for Atypical Teratoid Rhabdoid Tumor

Search CenterWatch for Atypical Teratoid Rhabdoid Tumor

Genetic Tests for Atypical Teratoid Rhabdoid Tumor

Anatomical Context for Atypical Teratoid Rhabdoid Tumor

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Atypical Teratoid Rhabdoid Tumor:

33
Spinal cord, Brain, Lung, Cerebellum, Pineal

Animal Models for Atypical Teratoid Rhabdoid Tumor or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Atypical Teratoid Rhabdoid Tumor:

37 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.6HSP90AA1, CCND1, CTNNB1, SPP1
2MP:00053699.2IGF2, IGF1R, CDH2, GFAP, ACTC1, SPP1
3MP:00053809.2VIM, BMP1, IGF1R, CDH2, CLDN6
4MP:00053709.2SMARCB1, SPP1, MUC1, IGF1R, IGF2, CTNNB1
5MP:00036319.1CTSD, SYP, IGF1R, CDH2, INA, GFAP
6MP:00020069.1CCND1, AURKA, CTNNB1, IGF1R, MUC1, RASSF1
7MP:00107718.9CCND1, CTNNB1, IGF2, IGF1R, CLDN6, SPP1
8MP:00053818.8CCND1, CTNNB1, CTSD, BMP1, IGF2, IGF1R
9MP:00053918.8VIM, CCND1, CTNNB1, CTSD, IGF2, MUC1
10MP:00053768.7CTSD, DES, IGF2, IGF1R, CDH2, GFAP
11MP:00053828.7CCND1, CTNNB1, BMP1, IGF2, IGF1R, CLDN6
12MP:00028738.6CCND1, CTNNB1, SYP, MUC1, CLDN6, INA
13MP:00053868.3VIM, CCND1, CTNNB1, CTSD, DES, IGF2
14MP:00053878.2VIM, HSP90AA1, CCND1, CTNNB1, CTSD, IGF2
15MP:00053857.8VIM, CCND1, CTNNB1, BMP1, DES, IGF2
16MP:00053847.6CTSD, CTNNB1, AURKA, CCND1, HSP90AA1, VIM
17MP:00053787.5BMP1, CTSD, CTNNB1, AURKA, CCND1, VIM
18MP:00107686.9SMARCB1, VIM, HSP90AA1, CCND1, AURKA, CTNNB1

Publications for Atypical Teratoid Rhabdoid Tumor

Sources:
51PubMed
See all sources

Articles related to Atypical Teratoid Rhabdoid Tumor:

(show top 50)    (show all 160)
idTitleAuthorsYear
1
Frequent overexpression of HMGA2 in human atypical teratoid/rhabdoid tumor and its correlation with let-7a3/let-7b miRNA. (24423609)
2014
2
A Primary Spinal Extradural Atypical Teratoid/Rhabdoid Tumor of the Cervical Spine With Bony Involvement. (24396129)
2014
3
Epigenetic modification after inhibition of IGF-1R signaling in human central nervous system atypical teratoid rhabdoid tumor (AT/RT). (23624780)
2013
4
Case report: long-term survival of an infant syndromic patient affected by atypical teratoid-rhabdoid tumor. (23510391)
2013
5
Atypical presentation of atypical teratoid rhabdoid tumor in a child. (23781363)
2013
6
Peritoneal metastasis of third ventricular atypical teratoid/rhabdoid tumor after VP shunt implantation for unexplained hydrocephalus. (23151867)
2012
7
Ion channels in pediatric CNS Atypical Teratoid/Rhabdoid Tumor (AT/RT) cells: potential targets for novel therapeutic agents. (21971736)
2012
8
Survival outcomes in atypical teratoid rhabdoid tumor for patients undergoing radiotherapy in a Surveillance, Epidemiology, and End Results analysis. (22213196)
2012
9
Atypical teratoid/rhabdoid tumor with 26-year overall survival: case report. (22462705)
2012
10
Histone deacetylase inhibition decreases proliferation and potentiates the effect of ionizing radiation in atypical teratoid/rhabdoid tumor cells. (22156471)
2012
11
Treatment-related morbidity in atypical teratoid/rhabdoid tumor: multifocal necrotizing leukoencephalopathy. (21613772)
2011
12
Absence of chromosome 19q13.41 amplification in a case of atypical teratoid/rhabdoid tumor with ependymoblastic differentiation. (21086133)
2011
13
Atypical teratoid/rhabdoid tumor arising in a ganglioglioma: genetic characterization. (22082607)
2011
14
A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature. (21127945)
2011
15
Adult variant of atypical teratoid/rhabdoid tumor: immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica. (20705400)
2010
16
Claudin 6 is a positive marker for atypical teratoid/rhabdoid tumors. (19220299)
2010
17
The tyrosine kinase c-Abl promotes proliferation and is expressed in atypical teratoid and malignant rhabdoid tumors. (20629032)
2010
18
Meningeal presentation of an atypical teratoid/rhabdoid tumor. (20739832)
2010
19
Atypical teratoid/rhabdoid tumor of the pineal region in an adult. (19911885)
2010
20
Atypical teratoid/rhabdoid tumor of the spine in a 4-year-old girl. (19073850)
2008
21
Atypical teratoid rhabdoid tumor (AT/RT) in adults: review of four cases. (18369529)
2008
22
Atypical teratoid/rhabdoid tumor arising from the third cranial nerve. (18769285)
2008
23
Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma. (17431546)
2007
24
Primary atypical teratoid/rhabdoid tumor of the clival region. Case report. (17465367)
2007
25
MRI of primary spinal atypical teratoid/rhabdoid tumor: a case report and literature review. (17361332)
2007
26
A case of congenital supratentorial tumor: atypical teratoid/rhabdoid tumor or primitive neuroectodermal tumor? (18021375)
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
Epigenetic repression of RASSF1A but not CASP8 in supratentorial PNET (sPNET) and atypical teratoid/rhabdoid tumors (AT/RT) of childhood. (16186793)
2006
30
Impact of radiotherapy for pediatric CNS atypical teratoid/rhabdoid tumor (single institute experience). (16406394)
2006
31
Atypical teratoid/rhabdoid tumor arising from the spinal cord--case report and review of the literature. (16550741)
2006
32
Clinicopathologic and immunohistochemical study of atypical teratoid/rhabdoid tumor of central nervous system]. (17069697)
2006
33
Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. (15779233)
2005
34
Atypical teratoid/rhabdoid tumor case report: treatment with surgical excision, radiation therapy, and alternative medicines. (15803380)
2005
35
Atypical teratoid/rhabdoid tumor of the brain: cytopathologic characteristics and differential diagnosis. (15690353)
2005
36
Atypical teratoid/rhabdoid tumors of the central nervous system. (16195799)
2005
37
E, N-cadherins and beta-catenin expression in medulloblastoma and atypical teratoid/rhabdoid tumor. (15508347)
2004
38
Atypical teratoid/rhabdoid tumor: an unusual presentation. (15322781)
2004
39
Atypical teratoid/rhabdoid tumor: cytology and differential diagnosis in adults. (15236268)
2004
40
Atypical teratoid/rhabdoid tumor of the central nervous system in children: an atypical series and review. (12759791)
2003
41
Pathology teach and tell: central nervous system atypical teratoid/rhabdoid tumor. (14692196)
2003
42
A unique occurrence of a cerebral atypical teratoid/rhabdoid tumor in an infant and a spinal canal primitive neuroectodermal tumor in her father. (12675315)
2003
43
Primary intracranial atypical teratoid/rhabdoid tumor in a child: a case report. (12378033)
2002
44
Atypical teratoid/rhabdoid tumor of the central nervous system: clinico-pathological study. (12564764)
2002
45
Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop. (12142780)
2002
46
Association between DNA content and tumor suppressor gene expression and aggressiveness of atypical teratoid/rhabdoid tumors. (12382173)
2002
47
Spinal atypical teratoid/rhabdoid tumor in an infant. (10867562)
2000
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
Primary intracranial atypical teratoid/rhabdoid tumor in a child with Canavan disease. (7619723)
1995
50
Monosomy 22 in rhabdoid or atypical teratoid tumors of the brain. (2770830)
1989

Genetic Variations for Atypical Teratoid Rhabdoid Tumor

Expression for genes affiliated with Atypical Teratoid Rhabdoid Tumor

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Atypical Teratoid Rhabdoid Tumor

Search GEO for disease gene expression data for Atypical Teratoid Rhabdoid Tumor.

Pathways for genes affiliated with Atypical Teratoid Rhabdoid Tumor

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 4Cell Signaling Technology, 52QIAGEN
See all sources

Pathways related to Atypical Teratoid Rhabdoid Tumor according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9IGF1R, HSP90AA1
29.9IGF1R, HSP90AA1
39.9ACTC1, IGF2, BMP1
4
Hide members
9.8VIM, DES, ACTC1
59.8DES, AURKA, VIM
69.8SPP1, IGF1R, IGF2
79.7ACTC1, CDH2, CTNNB1
8
Hide members
9.7HSP90AA1, IGF2, IGF1R
99.7CDH2, MUC1, CTNNB1
109.6CDH2, CTNNB1, VIM
11
Hide members
9.5SPP1, IGF1R, CTNNB1, CCND1
12
Hide members
9.5CTNNB1, DES, CDH2, ACTC1
139.5CCND1, CTNNB1, IGF2, IGF1R
149.5IGF1R, IGF2, CTNNB1, CCND1
15
Hide members
9.4HSP90AA1, CCND1, IGF2, IGF1R
16
Hide members
9.4VIM, DES, INA, GFAP
179.3VIM, CCND1, CTNNB1, CDH2
189.3HSP90AA1, CCND1, CTNNB1, IGF1R, RASSF1
19
Hide members
9.1VIM, HSP90AA1, CTNNB1, BMP1, CDH2
20
Hide members
7.8SPP1, VIM, CCND1, CTNNB1, BMP1, DES

Compounds for genes affiliated with Atypical Teratoid Rhabdoid Tumor

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Atypical Teratoid Rhabdoid Tumor according to GeneCards/GeneDecks:

(show top 50)    (show all 141)
idCompoundScoreTop Affiliating Genes
1estrogen4510.7GFAP
2butyrate4510.7GFAP
3glutamate4510.5BMP1, GFAP
4mucicarmine459.8MUC1, VIM, DES, ACTC1, SYP
5dihydrotestosterone45 29 11 2412.8VIM, HSP90AA1, DES, IGF1R
6s 100459.7VIM, DES, SYP, MUC1, GFAP, ACTC1
7reticulin459.7VIM, ACTC1, GFAP, MUC1, SYP, DES
8hematoxylin459.6VIM, DES, ACTC1, GFAP, MUC1, SYP
9steroid459.5CTSD, ACTC1, HSP90AA1, CCND1, SYP, DES
10b 723459.5ACTC1, VIM, CDH2, MUC1, SYP, DES
11creatinine459.4SPP1, IGF1R, GFAP, IGF2, ACTC1, SYP
12trastuzumab45 50 1111.4CCND1, CTSD, MUC1, IGF1R, HSP90AA1, CTNNB1
13neomycin459.4VIM, HSP90AA1, IGF2, GFAP, SPP1
14dexamethasone45 50 29 1112.3GFAP, IGF2, CTNNB1, IGF1R, CDH2, SPP1
15paclitaxel45 50 1111.3GFAP, CTSD, CCND1, IGF1R, CTNNB1, IGF2
16hyaluronic acid45 2410.2VIM, CTSD, DES, MUC1, SPP1, IGF1R
17serine459.2DES, CCND1, AURKA, RASSF1, GFAP, CDH2
18formaldehyde45 2410.2MUC1, VIM, CCND1, CTSD, DES, GFAP
19bromodeoxyuridine459.2CCND1, IGF1R, VIM, CTNNB1, GFAP, DES
20progestin459.2CCND1, CTSD, IGF2, VIM, IGF1R, MUC1
21gefitinib45 50 1111.2IGF2, CTNNB1, VIM, CCND1, IGF1R
22adriamycin459.2CCND1, CTNNB1, VIM, CTSD, DES, IGF1R
23imatinib45 50 1111.2DES, HSP90AA1, IGF2, CCND1, IGF1R, ACTC1
24h2o2459.1HSP90AA1, VIM, IGF1R, SYP, DES, CTSD
25phalloidin459.1CDH2, DES, CTNNB1, VIM
265fluorouracil459.0HSP90AA1, MUC1, IGF1R, CTNNB1, IGF2, CTSD
27thymidine45 249.9IGF1R, MUC1, GFAP, IGF2, CTSD, CTNNB1
28glutamine458.8VIM, HSP90AA1, CTNNB1, CTSD, SYP, IGF2
29tamoxifen45 50 29 1111.8HSP90AA1, IGF1R, IGF2, CCND1, VIM, MUC1
30glucose458.8CTSD, IGF1R, MUC1, CDH2, GFAP, ACTC1
31lactate458.8GFAP, SPP1, IGF1R, IGF2, DES, CTSD
32doxorubicin45 50 1110.8CCND1, IGF1R, CTSD, CTNNB1, HSP90AA1, VIM
33estradiol45 11 2410.8IGF2, GFAP, SYP, IGF1R, DES, MUC1
344-hydroxytamoxifen458.7CDH2, CTNNB1, HSP90AA1, IGF1R, IGF2, CTSD
35matrigel458.7CDH2, GFAP, ACTC1, SPP1, IGF1R, CCND1
36agar458.6IGF1R, IGF2, CTSD, GFAP, SPP1, CCND1
37threonine458.6MUC1, SPP1, GFAP, CCND1, AURKA, HSP90AA1
38arginine458.5BMP1, VIM, CTNNB1, HSP90AA1, SPP1, GFAP
39alanine458.5IGF1R, RASSF1, HSP90AA1, VIM, GFAP, IGF2
40cisplatin45 50 60 1111.5CTNNB1, CTSD, SYP, CCND1, HSP90AA1, IGF2
41adenylate458.4IGF2, GFAP, CDH2, IGF1R, DES, CCND1
42genistein45 29 60 2 11 2413.4SYP, CCND1, CTNNB1, CTSD, IGF1R, CDH2
43glycogen45 249.3ACTC1, GFAP, MUC1, VIM, CTNNB1, DES
44tyrosine458.0IGF1R, IGF2, SYP, GFAP, ACTC1, SPP1
45paraffin457.9SPP1, ACTC1, GFAP, CDH2, MUC1, IGF1R
46cysteine457.8IGF2, IGF1R, MUC1, CDH2, GFAP, SYP
47testosterone45 60 11 2410.6HSP90AA1, VIM, CCND1, CTNNB1, CTSD, SPP1
48progesterone45 60 29 11 2411.6SPP1, CCND1, ACTC1, GFAP, VIM, CDH2
49vegf457.6ACTC1, SYP, DES, CTSD, CTNNB1, CCND1
50retinoic acid45 248.1SPP1, ACTC1, GFAP, RASSF1, INA, CDH2

GO Terms for genes affiliated with Atypical Teratoid Rhabdoid Tumor

Sources:
16Gene Ontology
See all sources

Cellular components related to Atypical Teratoid Rhabdoid Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1catenin complexGO:0163429.9CDH2, CTNNB1
2fascia adherensGO:0059169.4CDH2, DES, CTNNB1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1Bergmann glial cell differentiationGO:06002010.1VIM, GFAP
2astrocyte developmentGO:01400210.0VIM, GFAP
3muscle filament slidingGO:0300499.9ACTC1, DES, VIM
4response to vitamin EGO:0331979.8IGF1R, CCND1
5extracellular matrix organizationGO:0301989.7SPP1, GFAP, BMP1, CTSD
6intermediate filament organizationGO:0451099.7GFAP, VIM
7positive regulation of MAPK cascadeGO:0434109.5CDH2, IGF1R, IGF2, CTNNB1

Molecular functions related to Atypical Teratoid Rhabdoid Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein phosphatase bindingGO:0199039.6CDH2, CTNNB1, HSP90AA1
2alpha-catenin bindingGO:0452949.6CTNNB1, CDH2
3protein kinase bindingGO:0199019.5CTNNB1, AURKA, CCND1, HSP90AA1
4structural constituent of cytoskeletonGO:0052009.5VIM, DES, INA, GFAP
5identical protein bindingGO:0428028.9RASSF1, CLDN6, IGF1R, SYP, DES, HSP90AA1
6protein bindingGO:0055157.3CTNNB1, AURKA, CCND1, HSP90AA1, VIM, CTSD

Products for genes affiliated with Atypical Teratoid Rhabdoid Tumor

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Atypical Teratoid Rhabdoid Tumor

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet