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RTPS
MCID: ATY005
MIFTS: 69

Atypical Teratoid Rhabdoid Tumor (RTPS)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Atypical Teratoid Rhabdoid Tumor

About this section

MalaCards integrated aliases for Atypical Teratoid Rhabdoid Tumor:

Name: Atypical Teratoid Rhabdoid Tumor 12 15 17
Rhabdoid Tumor Predisposition Syndrome 12 25 43 58 6 70
Atypical Teratoid/rhabdoid Tumor 12 29 6 70
Rhabdoid Predisposition Syndrome 25 43 36
Rtps 25 43 58
Familial Posterior Fossa Brain Tumor of Infancy 43 6
Familial Rhabdoid Tumor 43 58
Familial Posterior Fossa Brain Tumor Syndrome 43
Hereditary Swi/snf Deficiency Syndrome 43
Atypical Teratoid Rhabdoid Tumour 12
Atypical Teratoid/rhabdoid Tumour 12
Rhabdoid Tumour of the Cns 12
Rhabdoid Tumor of the Cns 12
at/rt 12

Characteristics:

Orphanet epidemiological data:

58
familial rhabdoid tumor
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

GeneReviews:

25
Penetrance Smarca4. most individuals with smarca4-related rtps have inherited the pathogenic variant from an unaffected, healthy parent. in smarca4-related rtps the penetrance for rhabdoid tumor in the preceding generation of seven informative families was zero. however, in one family, two sibs with a smarca4 pathogenic variant were both affected [schneppenheim et al 2010, hasselblatt et al 2014]....

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:2129
KEGG 36 H01134
NCIt 50 C6906
SNOMED-CT 67 128792003
ICD10 via Orphanet 33 C49.9
Orphanet 58 ORPHA231108
UMLS 70 C1266184 C2985524
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Summaries for Atypical Teratoid Rhabdoid Tumor

About this section
MedlinePlus Genetics : 43 Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a high risk of developing cancerous (malignant) growths called rhabdoid tumors. These highly aggressive tumors are called rhabdoid because their cells resemble rhabdomyoblasts, which are cells that are normally found in embryos before birth and develop into muscles used for movement (skeletal muscles).Rhabdoid tumors are rare in the general population. They usually occur in the first year of life, and are much less likely to appear after age 4. In people with RTPS, the tumors occur at an average age of 4 to 7 months, and can even occur before birth. Affected individuals may have multifocal synchronous tumors, which means that multiple tumors that develop independently (primary tumors) occur at the same time. The rhabdoid tumors that occur in RTPS usually grow and spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood.More than half of all malignant rhabdoid tumors (MRTs) develop in the cerebellum, which is the part of the brain that coordinates movement. Rhabdoid tumors in the brain and spinal cord (central nervous system) are called atypical teratoid/rhabdoid tumors (AT/RTs).Rhabdoid tumors also occur outside the central nervous system. These tumors include rhabdoid tumors of the kidneys (RTKs) and tumors that develop in other organs and tissues of the body (called extrarenal malignant rhabdoid tumors or eMRTs). The type of rhabdoid tumor can vary among individuals with RTPS, even within the same family.Tumors other than rhabdoid tumors can also occur in people with RTPS. Some affected children develop noncancerous (benign) tumors called schwannomas, which grow on nerve cells. Women with RTPS are at increased risk of developing a rare type of ovarian cancer called small cell cancer of the ovary hypercalcemic type (SCCOHT).

MalaCards based summary : Atypical Teratoid Rhabdoid Tumor, also known as rhabdoid tumor predisposition syndrome, is related to rhabdoid cancer and rhabdoid tumor predisposition syndrome 1. 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/superpathways are ERK Signaling and PI3K-Akt signaling pathway. The drugs Aspirin and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, brain and breast, and related phenotypes are nausea and vomiting and irritability

Disease Ontology : 12 A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.

KEGG : 36 Rhabdoid predisposition syndrome (RPS) is familial cases of highly malignant, aggressive, embryonal neoplasms manifested in early infancy and childhood that may originate from virtually any tissue, generally resulting in atypical teratoid rhabdoid tumors (AT/RTs) in the central nervous system and malignant rhabdoid tumors in the kidney or retroperitoneum. The vast majority demonstrate biallelic somatic inactivation of the SMARCB1 tumor suppressor within tumor cells. Mutations in SMRCA4 gene have also been identified.

Wikipedia : 73 An atypical teratoid rhabdoid tumor (AT/RT) is a rare tumor usually diagnosed in childhood. Although... more...

GeneReviews: NBK469816
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Related Diseases for Atypical Teratoid Rhabdoid Tumor

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

(show top 50) (show all 422)
# Related Disease Score Top Affiliating Genes
1 rhabdoid cancer 33.3 VIM TP53 SYP SMARCB1 SMARCA4 IGF2
2 rhabdoid tumor predisposition syndrome 1 33.2 TP53 SMARCB1 ATRX
3 medulloblastoma 32.1 VIM TP53 SYP SMARCB1 SMARCA4 IGF2
4 hydrocephalus 31.6 TP53 SYP SMARCB1 GFAP
5 rhabdoid meningioma 31.5 VIM SYP SMARCB1 GFAP
6 chordoma 31.4 VIM TP53 SMARCB1 GFAP
7 ganglioglioma 31.4 TP53 SYP SMARCB1 GFAP CHGA
8 neurilemmoma 31.3 VIM SMARCB1 GFAP
9 central nervous system cancer 31.3 TP53 SYP SMARCB1 GFAP CTNNB1 ATRX
10 meningioma, familial 31.3 VIM TP53 TEAD4 SYP SMARCB1 IGF2
11 pleomorphic xanthoastrocytoma 31.3 TP53 SYP SMARCB1 GFAP CHGA ATRX
12 choroid plexus cancer 31.3 TP53 SYP SMARCB1 SMARCA4 GFAP ATRX
13 kidney rhabdoid cancer 31.3 SYP SMARCB1 SMARCA4
14 pineal gland cancer 31.3 SYP SMARCB1 GFAP
15 cellular ependymoma 31.2 VIM SYP HOTAIR GFAP
16 nodular medulloblastoma 31.2 SYP SMARCB1 CTNNB1
17 pineocytoma 31.2 SYP GFAP CHGA
18 teratoma 31.2 TP53 SYP SMARCB1 GFAP CTNNB1 CHGA
19 gliosarcoma 31.1 VIM TP53 GFAP ATRX
20 high grade glioma 31.1 TP53 HOTAIR GFAP CTNNB1
21 sarcoma 31.1 VIM TP53 SMARCB1 HOTAIR CTNNB1 CCND1
22 anaplastic ependymoma 31.1 VIM SYP GFAP
23 epithelioid sarcoma 31.0 VIM SYP SMARCB1
24 ovarian small cell carcinoma 31.0 SYP SMARCB1 SMARCA4
25 spinal cancer 31.0 SYP SMARCB1 GFAP
26 adenoma 31.0 TP53 SYP CTNNB1 CHGA CCND1
27 brain cancer 31.0 TP53 SYP SMARCB1 GFAP CTNNB1 ALK
28 cauda equina neoplasm 31.0 SYP CHGA
29 glioblastoma 31.0 TP53 IGF1R HOTAIR GFAP CCND1 ALK
30 neurofibroma 31.0 VIM TP53 SYP
31 mammary analogue secretory carcinoma 31.0 TP53 CTNNB1 CCND1
32 mesenchymal cell neoplasm 30.9 TP53 HMGA2 ALK
33 ependymoblastoma 30.9 VIM SYP SMARCB1 LIN28A GFAP
34 medulloepithelioma 30.9 VIM SYP SMARCB1 LIN28A GFAP
35 childhood medulloblastoma 30.9 TP53 SMARCA4 CTNNB1 CCND1
36 hemangiopericytoma, malignant 30.9 VIM TLE1 SYP IGF2
37 papilloma of choroid plexus 30.9 TP53 SYP SMARCB1 IGF2 GFAP
38 small cell carcinoma 30.8 TP53 SYP SMARCA4 CHGA ALK
39 small-cell carcinoma of the ovary of hypercalcemic type 30.8 TP53 SMARCA4
40 beckwith-wiedemann syndrome 30.8 TP53 SMARCB1 IGF2 IGF1R CTNNB1
41 ewing sarcoma 30.8 VIM TP53 TLE1 SYP IGF2 IGF1R
42 mucoepidermoid carcinoma 30.8 TP53 HMGA2 CTNNB1 CHGA CCND1
43 basal cell nevus syndrome 30.8 TP53 SMARCB1 CTNNB1 CCND1
44 malignant peripheral nerve sheath tumor 30.6 VIM TP53 TLE1 SMARCB1 IGF1R HMGA2
45 osteogenic sarcoma 30.6 TP53 SPP1 IGF2 IGF1R HOTAIR ATRX
46 sarcoma, synovial 30.6 VIM TLE1 SMARCB1 IGF2 IGF1R HMGA2
47 retinoblastoma 30.5 TP53 SMARCB1 SMARCA4 HOTAIR CCND1
48 anaplastic astrocytoma 30.5 TP53 GFAP CCND1 ATRX
49 supratentorial primitive neuroectodermal tumor 30.4 SYP SMARCB1 GFAP
50 neuroblastoma 30.3 TP53 SYP SMARCA4 IGF2 IGF1R HOTAIR

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



Diseases related to Atypical Teratoid Rhabdoid Tumor
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Symptoms & Phenotypes for Atypical Teratoid Rhabdoid Tumor

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Human phenotypes related to Atypical Teratoid Rhabdoid Tumor:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nausea and vomiting 31 hallmark (90%) HP:0002017
2 irritability 31 hallmark (90%) HP:0000737
3 apathy 31 hallmark (90%) HP:0000741
4 malignant neoplasm of the central nervous system 31 hallmark (90%) HP:0100836
5 macrocephaly 31 frequent (33%) HP:0000256
6 ataxia 31 frequent (33%) HP:0001251
7 hydrocephalus 31 frequent (33%) HP:0000238
8 muscle weakness 31 frequent (33%) HP:0001324
9 reduced consciousness/confusion 31 frequent (33%) HP:0004372
10 hemiplegia/hemiparesis 31 frequent (33%) HP:0004374
11 migraine 31 frequent (33%) HP:0002076
12 limitation of joint mobility 31 frequent (33%) HP:0001376
13 seizure 31 frequent (33%) HP:0001250
14 cerebral calcification 31 occasional (7.5%) HP:0002514
15 cranial nerve paralysis 31 occasional (7.5%) HP:0006824
16 cerebral palsy 31 occasional (7.5%) HP:0100021

GenomeRNAi Phenotypes related to Atypical Teratoid Rhabdoid Tumor according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.89 SMARCA4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.89 VIM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.89 CCND1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.89 CCND1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.89 IGF1R
6 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.89 SMARCA4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.89 VIM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.89 VIM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.89 CCND1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.89 CCND1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.89 CCND1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.89 SMARCA4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.89 CCND1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.89 CTNNB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.89 IGF1R
16 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.89 VIM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.89 IGF1R
18 Decreased cell migration GR00055-A-1 9.46 ALK IGF1R VIM
19 Decreased cell migration GR00055-A-3 9.46 AURKA
20 Reduced mammosphere formation GR00396-S 9.23 ATRX CCND1 CHGA IGF1R IGF2 SMARCB1

MGI Mouse Phenotypes related to Atypical Teratoid Rhabdoid Tumor:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 ATRX AURKA CCND1 CHGA CTNNB1 GFAP
2 mortality/aging MP:0010768 10.39 ALK ATRX AURKA CCND1 CHGA CTNNB1
3 behavior/neurological MP:0005386 10.37 ALK ATRX CCND1 CTNNB1 GFAP IGF1R
4 cellular MP:0005384 10.35 ATRX AURKA CCND1 CTNNB1 GFAP IGF1R
5 growth/size/body region MP:0005378 10.34 ALK ATRX AURKA CCND1 CHGA CTNNB1
6 nervous system MP:0003631 10.27 ALK ATRX AURKA CCND1 CHGA CTNNB1
7 embryo MP:0005380 10.25 ATRX AURKA CTNNB1 IGF1R IGF2 LIN28A
8 muscle MP:0005369 10.17 CHGA CTNNB1 GFAP IGF1R IGF2 LIN28A
9 digestive/alimentary MP:0005381 10.13 CCND1 CTNNB1 GFAP IGF1R IGF2 SMARCA4
10 integument MP:0010771 10.13 ALK CCND1 CTNNB1 IGF1R IGF2 SMARCA4
11 neoplasm MP:0002006 10.06 ALK AURKA CCND1 CTNNB1 IGF1R SMARCA4
12 reproductive system MP:0005389 10.03 ALK ATRX CCND1 CHGA CTNNB1 IGF1R
13 normal MP:0002873 10.02 ALK CCND1 CTNNB1 GFAP LIN28A SMARCA4
14 respiratory system MP:0005388 9.81 ALK CCND1 CTNNB1 IGF1R IGF2 SMARCA4
15 skeleton MP:0005390 9.65 ALK CCND1 CTNNB1 IGF1R IGF2 LIN28A
16 vision/eye MP:0005391 9.4 ALK ATRX AURKA CCND1 CTNNB1 GFAP
Sources

Drugs & Therapeutics for Atypical Teratoid Rhabdoid Tumor

About this section

Drugs for Atypical Teratoid Rhabdoid Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 480)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
2
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
3
Nadroparin Approved, Investigational Phase 4
4
Isoniazid Approved, Investigational Phase 4 54-85-3 3767
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
9
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
10
Zinc Approved, Investigational Phase 4 7440-66-6 32051
11
Insulin aspart Approved Phase 4 116094-23-6 16132418
12
Argatroban Approved, Investigational Phase 4 74863-84-6 152951
13
Hydroxychloroquine Approved Phase 4 118-42-3 3652
14
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
15
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
16 Lipid Regulating Agents Phase 4
17 Hypolipidemic Agents Phase 4
18 Antitubercular Agents Phase 4
19 Neuroprotective Agents Phase 4
20 Methylprednisolone Acetate Phase 4
21 insulin Phase 4
22 Insulin, Globin Zinc Phase 4
23 Hypoglycemic Agents Phase 4
24 Antirheumatic Agents Phase 4
25 Antithrombins Phase 4
26 Antithrombin III Phase 4
27 Serine Proteinase Inhibitors Phase 4
28 Platelet Aggregation Inhibitors Phase 4
29 Antiparasitic Agents Phase 4
30 Antimalarials Phase 4
31 Antiprotozoal Agents Phase 4
32 Chloroquine diphosphate Phase 4 50-63-5
33 Amebicides Phase 4
34 Thromboplastin Phase 4
35
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
36
Hydrocortisone Approved, Vet_approved Phase 2, Phase 3 50-23-7 5754
37
Hydrocortisone acetate Approved, Vet_approved Phase 2, Phase 3 50-03-3
38
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
39
Dasatinib Approved, Investigational Phase 2, Phase 3 302962-49-8 3062316
40
Carmustine Approved, Investigational Phase 3 154-93-8 2578
41
Estramustine Approved, Investigational Phase 3 2998-57-4 18140 259331
42
Nedaplatin Approved, Investigational Phase 3 95734-82-0
43
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
44
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
45
Procarbazine Approved, Investigational Phase 3 671-16-9 4915
46
Enoxaparin Approved Phase 3 9005-49-6 772
47
Lomustine Approved, Investigational Phase 3 13010-47-4 3950
48
Mechlorethamine Approved, Investigational Phase 2, Phase 3 51-75-2 4033
49
Nifedipine Approved Phase 3 21829-25-4 4485
50
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021

Interventional clinical trials:

(show top 50) (show all 932)
# Name Status NCT ID Phase Drugs
1 Prolonged Hemodialysis Catheter Survival With Copolymer Coating and Rt-PA - PROCOPrt-PA Trial Unknown status NCT01670474 Phase 4 rt-PA (2mg/2mL) actilysis;rt-PA
2 The Efficacy and Safety of rhTNK-tPA in Comparison With Alteplase(Rt-PA) as Fibrinolytic Therapy of Acute ST Elevation Myocardial Infarction(STEMI): a Multi-center, Randomized, Open, Parallel, Non-inferiority, Active Controlled Trial Unknown status NCT02835534 Phase 4 rhTNK-tPA;alteplase
3 Low Dose Rt-PA Plus LMWH Compared With LMWH Alone for the Treatment of Normotensive Pulmonary Embolism Patients With Acute RV Dysfunction: A Randomized，Multi-Center，Controlled Trial Unknown status NCT01531829 Phase 4 Recombinant tissue plasminogen activator (rt-PA);Low Molecular Weight Heparin
4 Primary and Secondary Prevention of Human Papillomavirus (HPV) Disease in China Unknown status NCT01021904 Phase 4
5 Efficacy and Safety Evaluation of Low Dosage of Recombinant Tissue Plasminogen Activator (rt-PA) in the Treatment of Pulmonary Thromboembolism: A Multi-Center, Randomized Controlled Trial in China Completed NCT00781378 Phase 4 rt-PA;rt-PA
6 The Guard Control Trial - Randomized, Controlled, Muti-centric, Clinical Study to Assess Whether Type 1 Diabetic Patients in Poor Glycemic Control Can Improve Using the Real-time Values of the Guardian RT Versus Conventional Self-Monitoring Blood Glucose Completed NCT01331343 Phase 4
7 Randomized Trial for Pharmacogenomics-based Tuberculosis Therapy (RT-PGTT) Completed NCT00298870 Phase 4 Isoniazid;isoniazed
8 CompariSon of Manual Aspiration With Rheolytic Thrombectomy in Patients Undergoing Primary PCI. The SMART-PCI Trial Completed NCT01281033 Phase 4
9 Comparison of Hyperemic Efficacy Between Central and Peripheral Adenosine Infusion for Fractional Flow Reserve (FFR) Measurement Completed NCT01070420 Phase 4
10 Pilot Roll Out of the Xpert MTB/Rif for the Diagnosis of Pulmonary Tuberculosis in Two Municipalities in Brazil: a Stepped Wedge Trial Completed NCT01363765 Phase 4
11 Microtuning a Bonafide Treatment for GAD Patients - A Randomized Controlled Trial. Completed NCT02039193 Phase 4
12 Non Randomized, Multicenter, Prospective Pediatric Hodgkin Lymphoma Treatment Trial Stratified According to Initial Risk Factors and Response to Chemotherapy, Reduced Cumulative Doses of Antineoplastic Agents and Radiotherapy. Recruiting NCT03500133 Phase 4 Low risk with complete early response after two cycles of ABVD chemotherapy schedule. Only one more ABVD course is delivered.;Low risk with partial remisssion after 4 cycles of ABVD chemotherapy schedule. Two ESHAP courses are delivered.;Intermediate risk with complete early response after two cycles of ABVD chemotherapy schedule. Three more ABVD courses are delivered.;Intermediate risk with partial remission after two cycles of ABVD chemotherapy schedule. Four more chemotherapy courses are delivered alternating ESHAP and ABVD.;High risk with complete early response after 1 ABVD and 1 ESHAP courses. Four more chemotherapy courses are delivered alternating ESHAP and ABVD.;High risk with partial remission after 1 ABVD and 1 ESHAP courses. Six more chemotherapy courses are delivered alternating ESHAP and ABVD.;Low risk with partial remission at early response assessment after two cycles of ABVD chemotherpay schedule. Two ABVD courses are delivered.
13 Does the Use of Faster Insulin Aspart vs. Aspart Lead to the Prolonged Glycemic Time in Range in Children Suffering From Type 1 Diabetes Who Use Continuous Glucose Monitoring? Not yet recruiting NCT04772729 Phase 4 Insulin faster aspart (Fiasp, Novo Nordisk)
14 Use and Dosage of Hydroxychloroquine and Chloroquine to Convert Real Time Polymerase Chain Reaction (RT-PCR) Positive Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Coronavirus Infectious Disease 2019 (COVID-19) Patients to RT- PCR-Negative as a Means to Reduce Hospitalization Rate Terminated NCT04346667 Phase 4 Hydroxychloroquine Sulfate Regular dose;Hydroxychloroquine Sulfate Loading Dose;Chloroquine;Placebo
15 Use and Dosage of Hydroxychloroquine and Chloroquine to Convert Symptomatic RT-PCR Positive Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Coronavirus Infectious Disease 2019 (COVID-19) Patients to RT- PCR-Negative as a Means to Reduce Hospitalization Rate Terminated NCT04351191 Phase 4 Hydroxychloroquine Sulfate Regular dose;Hydroxychloroquine Sulfate Loading Dose;Chloroquine;Placebo
16 Argatroban Plus R-tPA for Acute Posterior Circulation Infarction (AR-PCI): a Prospective, Random, Blinded Assessment of Outcome and Open Label Multi-center Study Terminated NCT03506009 Phase 4 Argatroban combined with rt-PA;rt-PA
17 INTEnsification Radiotherapy With Accelerated Fractionation or ChemoTherapy And Local Excision After 3D External Radio-chemotherapy Unknown status NCT01653301 Phase 3 XELAC RT;XELOX RT
18 Phase III Trial of Surgery Followed by Conventional RT(5fr/Week)Vs.Concurrent Chemo-Radiotherapy Vs.Accelerated RT(6fr/Week)in High Risk, Loco-Regionally Advanced, Stage III&IVA, Resectable, Squamous Cell Carcinomas of Oralcavity Unknown status NCT00193843 Phase 3
19 A Phase III, Randomized, Double-Blind Placebo Controlled Study of the Probiotic Preparation VSL#3® Versus Placebo in Increasing the Pathological Major Response Rate in Patients Receiving Concurrent Chemotherapy and Pelvic Radiation Therapy Unknown status NCT01579591 Phase 3
20 Resource-sparing Radiotherapy for Breast Cancer Unknown status NCT01452672 Phase 3
21 A Phase III Protocol of Androgen Suppression (AS) and 3DCRT/IMRT Vs AS and 3DCTR/IMRT Followed by Chemotherapy With Docetaxel and Prednisone for Localized, High-Risk, Prostate Cancer Unknown status NCT00288080 Phase 3 Dexamethasone;Prednisone;docetaxel;Oral antiandrogen;LHRH agonist
22 A Clinical Trial Comparing Preoperative Radiation Therapy And Capecitabine With or Without Oxaliplatin With Preoperative Radiation Therapy And Continuous Intravenous Infusion Of 5-Fluorouracil With or Without Oxaliplatin In The Treatment Of Patients With Operable Carcinoma Of The Rectum Unknown status NCT00058474 Phase 3 capecitabine;fluorouracil;oxaliplatin
23 Phase III Randomized Trial of Comparing CCRT vs. RT Alone for Cervical Cancer Patients Primarily Treated by Radiotherapy and With Clinically Defined Good-prognosis Unknown status NCT00846508 Phase 3 Cisplatin
24 An Open Label, Randomized, Multi-center, Phase II/III Trial of High Intensity Versus Low Intensity Neoadjuvant Chemoradiotherapy With Intensity-modified Radiation Therapy (IMRT) in Local Advanced Rectal Cancer Unknown status NCT01064999 Phase 2, Phase 3 Oxaliplatin;Capecitabine
25 A Multicenter Trial Comparing Neoadjuvant Chemotherapy Followed by CCRT v.s. CCRT Alone in Locoregionally Advanced Nasopharyngeal Carcinoma Unknown status NCT00705627 Phase 3 neoadjuvant chemotherapy plus concurrent chemoradiotherapy
26 Randomised Phase III Clinical Trial on Concurent Chemoradiation vs. Neoadjuvant Chemoradiation and Surgery vs. Neoadjuvant Chemotherapy and Surgery in Early Stage Bulky Cervical Cancers (FIGO Stages IB2, IIA2 and IIB) Unknown status NCT01917695 Phase 3 Chemotherapy
27 Hypofractionated vs. Conventionally Fractionated Concurrent CRT for Unresectable Stage III NSCLC Unknown status NCT03331575 Phase 3
28 Investigation of Optimal Radiotherapy Regimen and Type of Irradiation in Treatment of Painful Bone Metastasis Completed NCT00610272 Phase 3
29 A PHASE III TRIAL OF THE STUDY OF ENDOCRINE THERAPY USED AS A CYTOREDUCTIVE AND CYTOSTATIC AGENT PRIOR TO RADIATION THERAPY IN GOOD PROGNOSIS LOCALLY CONFINED ADENOCARCINOMA OF THE PROSTATE Completed NCT00002597 Phase 3 flutamide;Zoladex;Lupron
30 Phase III Trial Comparing Conventional RT With Concomitant CT Versus Accelerated RT With Concomitant CT Versus Very Accelerated RT Alone in Patients With Head and Neck Squamous Cell Carcinoma Completed NCT00158652 Phase 3 5FU, Paraplatin
31 SYNTHESIS: a Randomized Controlled Trial on Intra-arterial Versus Intravenous Thrombolysis in Acute Ischemic Stroke. Start up Phase. Completed NCT00540527 Phase 3 local interarterial recombinant tissue plasminogen activator;intravenous (IV) rt-PA
32 Neoadjuvant Docetaxel+Cisplatin and 5-fluorouracil (TPF) Followed by Radiotherapy+Concomitant Chemo or Cetuximab Versus Radiotherapy+Concomitant Chemo or Cetuximab in Patients With Locally Advanced Squamous Cell Carcinoma of the Head and Neck. A Randomized Phase III Factorial Study. Completed NCT01086826 Phase 3 RT+CDDP/5-FU;RT+CETUXIMAB;INDUCTION CTx(TPF)+(RT+CDDP/5-FU);INDUCTION CTx(TPF)+(RT+CETUXIMAB)
33 A Phase III Study to Assess Conventional RT w/ Conventional Plus Accelerated Boost RT in the Treatment of Nasopharyngeal CA Completed NCT00535795 Phase 3
34 A Phase III Comparison of Hyperfractionated Radiation Therapy (RT) With BCNU and Conventional RT With BCNU for Supratentorial Malignant Glioma Completed NCT03722355 Phase 3 Carmustine
35 Early Salvage With High Dose Chemotherapy and Stem Cell Transplantation in Advanced Stage Hodgkin's Lymphoma Patients With Positive PET After Two Courses of ABVD (PET-2 Positive) and Comparison of RT Versus no RT in PET-2 Negative Patients Completed NCT00784537 Phase 2, Phase 3 ABVD;ABVD and Radiotherapy
36 A Phase III Study of Radiation Therapy (RT) and O6-Benzylguanine (O6-BG) Plus BCNU Versus RT and BCNU Alone for Newly Diagnosed Glioblastoma Multiforme (GBM) and Gliosarcoma Completed NCT00017147 Phase 3 carmustine;O6-Benzylguanine
37 A Phase III Protocol of Androgen Suppression (AS) and Radiation Therapy (RT) vs AS and RT Followed by Chemotherapy With Paclitaxel, Estramustine, and Etoposide (TEE) for Localized, High-Risk, Prostate Cancer Completed NCT00004054 Phase 3 bicalutamide;estramustine phosphate sodium;etoposide;flutamide;paclitaxel;Luteinizing hormone releasing hormone [LHRH] agonist;warfarin
38 A Randomized Phase III Non-inferiority Study of Concurrent Chemoradiotherapy With Nedaplatin Versus Cisplatin in Locoregionally Advanced Nasopharyngeal Carcinoma Completed NCT01540136 Phase 3 Nedaplatin;Cisplatin
39 A Three-Arm Phase III Study of Concomitant Versus Sequential Chemotherapy and Thoracic Radiotherapy for Patients With Locally Advanced Inoperable Non-small Cell Lung Cancer Completed NCT01134861 Phase 3 cisplatin;Etoposide;Vinblastine;Cisplatin
40 Randomized Controlled Study to Evaluate the Effects of Modafinil in Cancer Related Fatigue in Patients Undergoing Radiation Therapy Completed NCT01440621 Phase 3 Modafinil;Pyridoxine
41 A Phase III Trial of Post-Surgical Stereotactic Radiosurgery (SRS) Compared With Whole Brain Radiotherapy (WBRT) for Resected Metastatic Brain Disease Completed NCT01372774 Phase 3
42 Study for the Evaluation of the Impact of HEPILOR on the Possible Delay in the Development of Dysphagia in Breast Cancer Patients Undergoing Adjuvant Radiotherapy on the Breast/Thoracic Wall and Lymph Node Drainage. Completed NCT03997188 Phase 3
43 PILOT OBSERVATIONAL STUDY OF NEOADJUVANT 5 x 5 RADIOTHERAPY FOLLOWED BY TRANSANAL ENDOSCOPIC MICROSURGERY FOR T1-T2 EXTRAPERITONEAL RECTAL CANCER WITH CURATIVE INTENT Completed NCT02127645 Phase 3
44 Randomized Trial of Specialized Nutrition Therapy (SNT) Versus SNT Plus Resistance Training (RT) in Head and Neck Cancer Patients Undergoing Concurrent Chemo-Radiation Therapy (CCR) Completed NCT00696553 Phase 3
45 A Prospective, Randomised, Placebo Controlled, Double Blind Trial About Safety and Efficacy of Combined Treatment With Alteplase (Rt-PA) and Cerebrolysin® in Acute Ischemic Hemispheric Stroke Completed NCT00840671 Phase 3 Cerebrolysin;0.9% Saline Solution
46 Phase III Prospective Randomized Study of Craniospinal RT Followed by One of Two Adjuvant Chemotherapy Regimens (CCNU, CDDP, VCR OR CPM, CDDP, VCR) for Newly-Diagnosed Average Risk MedulloblastomaMEDULLOBLASTOMA Completed NCT00002875 Phase 3 cisplatin;cyclophosphamide;lomustine;mesna;vincristine sulfate
47 Raynaud's Treatment Study (RTS) Completed NCT00000530 Phase 3 nifedipine
48 An Open Label, Multicenter, Single-arm Trial to Assess Safety and Efficacy of Alteplase (Rt-PA) in Chinese Patients With Acute Ischemic Hemispheric Stroke Where Thrombolysis is Initiated Between 3 and 4.5 Hours After Stroke Onset Completed NCT02930837 Phase 3 alteplase
49 Randomized Controlled Trial to Evaluate Standard Thoracic Radiotherapy With or Without Concurrent Daily Low-dose Carboplatine in Elderly Patients With Locally Advanced Non-small Cell Lung Cancer (JCOG0301, NCSLC-Elderly-CBDCA-RT Phase III) Completed NCT00132665 Phase 3 B: CBDCA and Radiotherapy
50 Phase 3, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Weekly Doses of Palifermin (rHuKGF) for the Reduction of Oral Mucositis in Subjects With Advanced Head and Neck Cancer Receiving Adjuvant Radiotherapy and Chemotherapy(RT/CT) Completed NCT00131638 Phase 3 Placebo;Palifermin

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Genetic Tests for Atypical Teratoid Rhabdoid Tumor

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Genetic tests related to Atypical Teratoid Rhabdoid Tumor:

# Genetic test Affiliating Genes
1 Atypical Teratoid/rhabdoid Tumor 29
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Anatomical Context for Atypical Teratoid Rhabdoid Tumor

About this section

MalaCards organs/tissues related to Atypical Teratoid Rhabdoid Tumor:

40
Cerebellum, Brain, Breast, Spinal Cord, Prostate, Ovary, Pineal
Sources

Publications for Atypical Teratoid Rhabdoid Tumor

About this section

Articles related to Atypical Teratoid Rhabdoid Tumor:

(show top 50) (show all 577)
# Title Authors PMID Year
1
Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). 61 6 25
24123847 2014
2
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 25 61 6
20137775 2010
3
Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. 6 25
21208904 2011
4
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. 6
28608987 2017
5
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome. 25 61
28620006 2017
6
Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies. 61 25
26755072 2016
7
Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes. 61 25
26923874 2016
8
Multimodal therapy in children and adolescents with newly diagnosed atypical teratoid rhabdoid tumor: individual pooled data analysis and review of the literature. 61 25
26608522 2016
9
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. 25 61
26342593 2016
10
Rhabdoid tumor predisposition syndrome. 61 25
25494491 2015
11
Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor. 61 25
25262118 2014
12
Consistent SMARCB1 homozygous deletions in epithelioid sarcoma and in a subset of myoepithelial carcinomas can be reliably detected by FISH in archival material. 61 25
24585572 2014
13
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. 6
24658001 2014
14
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 6
24658002 2014
15
Intensive induction chemotherapy followed by myeloablative chemotherapy with autologous hematopoietic progenitor cell rescue for young children newly-diagnosed with central nervous system atypical teratoid/rhabdoid tumors: the Head Start III experience. 25 61
23934933 2014
16
Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again. 6
23775540 2013
17
Case report: long-term survival of an infant syndromic patient affected by atypical teratoid-rhabdoid tumor. 25 61
23510391 2013
18
Small cell carcinoma of the ovary of hypercalcemic type: a case report. 6
22424359 2012
19
Familial small cell carcinoma of the ovary. 6
19621450 2009
20
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. 6
19124645 2009
21
Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. 25 61
19064966 2009
22
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. 6
18647326 2008
23
A key role of the hSNF5/INI1 tumour suppressor in the control of the G1-S transition of the cell cycle. 6
12226744 2002
24
Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. 6
10739763 2000
25
Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. 6
10521299 1999
26
Immature teratomas of different origin carried by a pregnant mother and her fetus. 6
8269278 1993
27
The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases. 25
27866340 2017
28
A Phase I Study of the CDK4/6 Inhibitor Ribociclib (LEE011) in Pediatric Patients with Malignant Rhabdoid Tumors, Neuroblastoma, and Other Solid Tumors. 25
28432176 2017
29
Oncogenic roles of SMARCB1/INI1 and its deficient tumors. 25
28109176 2017
30
Assessment of the treatment approach and survival outcomes in a modern cohort of patients with atypical teratoid rhabdoid tumors using the National Cancer Database. 25
27861763 2017
31
Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors. 25
27960086 2016
32
Improved 6-year overall survival in AT/RT - results of the registry study Rhabdoid 2007. 25
27228363 2016
33
Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis. 25
25882982 2015
34
Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type. 25
25886974 2015
35
Biology and Treatment of Rhabdoid Tumor. 25
26349416 2015
36
Pathology and diagnosis of SMARCB1-deficient tumors. 25
25246033 2014
37
Mechanisms by which SMARCB1 loss drives rhabdoid tumor growth. 25
24853101 2014
38
SWI/SNF chromatin remodeling complexes and cancer. 25
25169151 2014
39
SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. 25
25060813 2014
40
Feasibility of intensive multimodal therapy in infants affected by rhabdoid tumors - experience of the EU-RHAB registry. 25
24633978 2014
41
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 25
23906836 2013
42
Extracranial rhabdoid tumours: what we have learned so far and future directions. 25
23816299 2013
43
Epidemiology of rhabdoid tumors of early childhood. 25
22434719 2013
44
Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. 25
22038540 2012
45
Central nervous system atypical teratoid rhabdoid tumours: the Canadian Paediatric Brain Tumour Consortium experience. 25
22023887 2012
46
Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. 25
20848638 2011
47
Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician. 25
21210147 2011
48
Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. 25
21108436 2011
49
Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome. 25
18087273 2008
50
Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations. 25
10556283 1999
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Variations for Atypical Teratoid Rhabdoid Tumor

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ClinVar genetic disease variations for Atypical Teratoid Rhabdoid Tumor:

6 (show top 50) (show all 2085)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCA4 NM_001128849.2(SMARCA4):c.3565C>T (p.Arg1189Ter) SNV Pathogenic 6554 rs267607070 GRCh37: 19:11143984-11143984
GRCh38: 19:11033308-11033308
2 SMARCB1 NM_003073.5(SMARCB1):c.591del (p.Gln198fs) Deletion Pathogenic 8024 rs587776678 GRCh37: 22:24145570-24145570
GRCh38: 22:23803383-23803383
3 SMARCB1 NM_003073.5(SMARCB1):c.986+1G>A SNV Pathogenic 8025 rs112038099 GRCh37: 22:24167603-24167603
GRCh38: 22:23825416-23825416
4 SMARCB1 NM_003073.5(SMARCB1):c.629-361_795+2103dup Duplication Pathogenic 8030 GRCh37: 22:24158592-24158593
GRCh38: 22:23816405-23816406
5 SMARCA4 NM_003072.4(SMARCA4):c.3533G>A (p.Trp1178Ter) SNV Pathogenic 139439 rs587777460 GRCh37: 19:11141556-11141556
GRCh38: 19:11030880-11030880
6 SMARCA4 NM_003072.4(SMARCA4):c.4170+1G>A SNV Pathogenic 139440 rs587777461 GRCh37: 19:11145809-11145809
GRCh38: 19:11035133-11035133
7 SMARCA4 NM_003072.4(SMARCA4):c.643C>T (p.Gln215Ter) SNV Pathogenic 139441 rs587777462 GRCh37: 19:11097152-11097152
GRCh38: 19:10986476-10986476
8 SMARCA4 NM_003072.4(SMARCA4):c.2617-3C>G SNV Pathogenic 139442 rs587777463 GRCh37: 19:11132398-11132398
GRCh38: 19:11021722-11021722
9 SMARCA4 NM_003072.4(SMARCA4):c.3239G>A (p.Gly1080Asp) SNV Pathogenic 139443 rs587777464 GRCh37: 19:11138483-11138483
GRCh38: 19:11027807-11027807
10 SMARCA4 NM_001128849.2(SMARCA4):c.2922del (p.Phe975fs) Deletion Pathogenic 212245 rs797045980 GRCh37: 19:11134254-11134254
GRCh38: 19:11023578-11023578
11 SMARCA4 NM_001128849.2(SMARCA4):c.3480dup (p.Leu1161fs) Duplication Pathogenic 212249 rs797045982 GRCh37: 19:11141497-11141498
GRCh38: 19:11030821-11030822
12 SMARCA4 NM_001128849.2(SMARCA4):c.4763del (p.Val1588fs) Deletion Pathogenic 212258 rs797045987 GRCh37: 19:11170460-11170460
GRCh38: 19:11059784-11059784
13 SMARCA4 NM_001128849.2(SMARCA4):c.4339C>T (p.Arg1447Ter) SNV Pathogenic 238464 rs878854224 GRCh37: 19:11152055-11152055
GRCh38: 19:11041379-11041379
14 SMARCB1 NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter) SNV Pathogenic 410703 rs1060503016 GRCh37: 22:24134001-24134001
GRCh38: 22:23791814-23791814
15 SMARCA4 NC_000019.10:g.(?_10984121)_(11062282_?)del Deletion Pathogenic 417442 GRCh37: 19:11094797-11172958
GRCh38: 19:10984121-11062282
16 SMARCB1 NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs) Deletion Pathogenic 410704 rs1060503017 GRCh37: 22:24167585-24167592
GRCh38: 22:23825398-23825405
17 SMARCB1 NM_003073.5(SMARCB1):c.118C>T (p.Arg40Ter) SNV Pathogenic 410698 rs1060503015 GRCh37: 22:24133967-24133967
GRCh38: 22:23791780-23791780
18 SMARCA4 NM_003072.4(SMARCA4):c.662del (p.Pro221fs) Deletion Pathogenic 408653 rs1060502085 GRCh37: 19:11097170-11097170
GRCh38: 19:10986494-10986494
19 SMARCA4 NM_003072.5(SMARCA4):c.1155_1157del (p.Glu386del) Deletion Pathogenic 438797 rs1555756326 GRCh37: 19:11100029-11100031
GRCh38: 19:10989353-10989355
20 SMARCB1 NC_000022.11:g.(?_23793553)_(23793694_?)del Deletion Pathogenic 464316 GRCh37: 22:24135740-24135881
GRCh38: 22:23793553-23793694
21 SMARCB1 NM_003073.5(SMARCB1):c.184A>T (p.Lys62Ter) SNV Pathogenic 464323 rs1555875917 GRCh37: 22:24134033-24134033
GRCh38: 22:23791846-23791846
22 SMARCA4 NM_003072.4(SMARCA4):c.300_301del (p.Gly102fs) Deletion Pathogenic 470331 rs780424104 GRCh37: 19:11096026-11096027
GRCh38: 19:10985350-10985351
23 SMARCB1 NC_000022.11:g.(?_23787164)_(23834186_?)del Deletion Pathogenic 464313 GRCh37: 22:24129351-24176373
GRCh38: 22:23787164-23834186
24 SMARCB1 NM_003073.5(SMARCB1):c.1118+1G>A SNV Pathogenic 464317 rs1555881586 GRCh37: 22:24175891-24175891
GRCh38: 22:23833704-23833704
25 SMARCA4 NC_000019.10:g.(?_11018951)_(11030899_?)del Deletion Pathogenic 470218 GRCh37: 19:11129627-11141575
GRCh38: 19:11018951-11030899
26 SMARCB1 NM_003073.5(SMARCB1):c.137_140dup (p.Tyr47Ter) Duplication Pathogenic 464322 rs1555875892 GRCh37: 22:24133984-24133985
GRCh38: 22:23791797-23791798
27 SMARCB1 NM_003073.5(SMARCB1):c.501-1G>C SNV Pathogenic 464328 rs1555877276 GRCh37: 22:24145481-24145481
GRCh38: 22:23803294-23803294
28 SMARCA4 NM_003072.4(SMARCA4):c.982_986del (p.Pro328fs) Deletion Pathogenic 537779 rs1555755067 GRCh37: 19:11098462-11098466
GRCh38: 19:10987786-10987790
29 SMARCA4 NM_001128849.2(SMARCA4):c.823C>T (p.Gln275Ter) SNV Pathogenic 537803 rs1555754293 GRCh37: 19:11097643-11097643
GRCh38: 19:10986967-10986967
30 SMARCA4 NM_001128849.2(SMARCA4):c.4756C>T (p.Gln1586Ter) SNV Pathogenic 537813 rs1555795884 GRCh37: 19:11170453-11170453
GRCh38: 19:11059777-11059777
31 SMARCA4 NM_001128849.2(SMARCA4):c.2164C>T (p.Gln722Ter) SNV Pathogenic 537814 rs1555773269 GRCh37: 19:11121097-11121097
GRCh38: 19:11010421-11010421
32 SMARCA4 NM_001128849.2(SMARCA4):c.1831C>T (p.Gln611Ter) SNV Pathogenic 567436 rs1568455217 GRCh37: 19:11113723-11113723
GRCh38: 19:11003047-11003047
33 SMARCA4 NM_001128849.2(SMARCA4):c.4567C>T (p.Arg1523Ter) SNV Pathogenic 567464 rs758517117 GRCh37: 19:11168977-11168977
GRCh38: 19:11058301-11058301
34 SMARCA4 NM_001128849.2(SMARCA4):c.1408C>T (p.Gln470Ter) SNV Pathogenic 537800 rs1555757738 GRCh37: 19:11101988-11101988
GRCh38: 19:10991312-10991312
35 SMARCA4 NM_003072.4(SMARCA4):c.2329del (p.Leu777fs) Deletion Pathogenic 537835 rs1555774702 GRCh37: 19:11123678-11123678
GRCh38: 19:11013002-11013002
36 SMARCA4 NM_001128849.2(SMARCA4):c.493C>T (p.Gln165Ter) SNV Pathogenic 574179 rs1568422286 GRCh37: 19:11097002-11097002
GRCh38: 19:10986326-10986326
37 SMARCA4 NC_000019.10:g.(?_11018947)_(11030903_?)del Deletion Pathogenic 584068 GRCh37: 19:11129623-11141579
GRCh38: 19:11018947-11030903
38 SMARCA4 NM_001128849.2(SMARCA4):c.1754_1757del (p.Lys585fs) Deletion Pathogenic 640321 rs1555763780 GRCh37: 19:11107048-11107051
GRCh38: 19:10996372-10996375
39 SMARCA4 NM_001128849.2(SMARCA4):c.229G>T (p.Glu77Ter) SNV Pathogenic 580699 rs1568419675 GRCh37: 19:11095955-11095955
GRCh38: 19:10985279-10985279
40 SMARCB1 NM_003073.5(SMARCB1):c.362+1G>A SNV Pathogenic 582116 rs1568937197 GRCh37: 22:24135876-24135876
GRCh38: 22:23793689-23793689
41 SMARCA4 NM_001128849.2(SMARCA4):c.2032C>T (p.Gln678Ter) SNV Pathogenic 486489 rs1555771571 GRCh37: 19:11118608-11118608
GRCh38: 19:11007932-11007932
42 SMARCA4 NM_001128849.2(SMARCA4):c.1189C>T (p.Arg397Ter) SNV Pathogenic 661795 rs1295192121 GRCh37: 19:11100063-11100063
GRCh38: 19:10989387-10989387
43 SMARCA4 NM_001128849.2(SMARCA4):c.4834G>T (p.Glu1612Ter) SNV Pathogenic 664097 rs1600644640 GRCh37: 19:11170531-11170531
GRCh38: 19:11059855-11059855
44 SMARCB1 NM_003073.5(SMARCB1):c.812del (p.Gly271fs) Deletion Pathogenic 695025 rs1601433318 GRCh37: 22:24167426-24167426
GRCh38: 22:23825239-23825239
45 SMARCA4 NM_001128849.2(SMARCA4):c.2932C>T (p.Arg978Ter) SNV Pathogenic 639395 rs1064796254 GRCh37: 19:11134266-11134266
GRCh38: 19:11023590-11023590
46 SMARCA4 NM_003072.5(SMARCA4):c.1243C>T (p.Gln415Ter) SNV Pathogenic 835142 GRCh37: 19:11100117-11100117
GRCh38: 19:10989441-10989441
47 SMARCA4 NM_003072.5(SMARCA4):c.2292G>A (p.Trp764Ter) SNV Pathogenic 846208 GRCh37: 19:11123642-11123642
GRCh38: 19:11012966-11012966
48 SMARCA4 NM_003072.5(SMARCA4):c.3169G>T (p.Glu1057Ter) SNV Pathogenic 839007 GRCh37: 19:11136976-11136976
GRCh38: 19:11026300-11026300
49 SMARCA4 NM_003072.5(SMARCA4):c.916C>T (p.Gln306Ter) SNV Pathogenic 844961 GRCh37: 19:11098398-11098398
GRCh38: 19:10987722-10987722
50 SMARCA4 NM_003072.5(SMARCA4):c.3809_3825dup (p.Pro1276fs) Duplication Pathogenic 854412 GRCh37: 19:11144476-11144477
GRCh38: 19:11033800-11033801

Cosmic variations for Atypical Teratoid Rhabdoid Tumor:

9 (show top 50) (show all 1809)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM102626869 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1244C>T p.A415V 16:2061995-2061995 12
2 COSM150321699 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1244C>T p.A415V 16:2061995-2061995 12
3 COSM90411747 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1244C>T p.A415V 16:2061995-2061995 12
4 COSM136625397 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1277C>T p.A426V 16:2061995-2061995 12
5 COSM151517264 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1244C>T p.A415V 16:2061995-2061995 12
6 COSM149810697 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1244C>T p.A415V 16:2061995-2061995 12
7 COSM150363122 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1244C>T p.A415V 16:2061995-2061995 12
8 COSM87036964 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1244C>T p.A415V 16:2061995-2061995 12
9 COSM150582006 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1244C>T p.A415V 16:2061995-2061995 12
10 COSM151375132 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1244C>T p.A415V 16:2061995-2061995 12
11 COSM148989215 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1244C>T p.A415V 16:2061995-2061995 12
12 COSM151751646 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1244C>T p.A415V 16:2061995-2061995 12
13 COSM110111379 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1133C>T p.A378V 16:2061995-2061995 12
14 COSM147703913 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1244C>T p.A415V 16:2061995-2061995 12
15 COSM101188530 TSC2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1097C>T p.A366V 16:2061995-2061995 12
16 COSM94186414 TPR central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.3061G>T p.D1021Y 1:186346170-186346170 12
17 COSM144091386 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.65G>A p.R22H 17:7675070-7675070 12
18 COSM87906185 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.517G>T p.V173L 17:7675095-7675095 12
19 COSM142559879 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.701G>A p.R234H 17:7673802-7673802 12
20 COSM143943866 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.59A>G p.H20R 17:7675076-7675076 12
21 COSM143944155 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.367C>T p.R123W 17:7673776-7673776 12
22 COSM122734408 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.421C>T p.R141C 17:7673803-7673803 12
23 COSM87907024 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.799C>T p.R267W 17:7673821-7673821 12
24 COSM144013367 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.710G>A p.R237Q 17:7674220-7674220 12
25 COSM111758775 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.733G>A p.G245S 17:7674230-7674230 12
26 COSM93183877 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.733G>A p.G245S 17:7674230-7674230 12
27 COSM144087106 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.266G>A p.R89Q 17:7674220-7674220 12
28 COSM144660686 TP53 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,NS c.356G>A p.R119H 17:7675139-7675139 12
29 COSM144652630 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.467T>C p.I156T 17:7674947-7674947 12
30 COSM121885381 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.-18T>A p.? 17:7675233-7675233 12
31 COSM144087276 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.367C>T p.R123W 17:7673776-7673776 12
32 COSM142571289 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.739G>T p.E247* 17:7673764-7673764 12
33 COSM144311356 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.467T>C p.I156T 17:7674947-7674947 12
34 COSM144309944 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.407G>A p.R136H 17:7675088-7675088 12
35 COSM122734738 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.367A>T p.I123F 17:7674200-7674200 12
36 COSM142560476 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.616G>A p.G206S 17:7674230-7674230 12
37 COSM142561467 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.467T>C p.I156T 17:7674947-7674947 12
38 COSM106059804 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.517G>T p.V173L 17:7675095-7675095 12
39 COSM122279858 TP53 central nervous system,cerebellum,primitive neuroectodermal tumour-medulloblastoma,NS c.77G>A p.R26H 17:7675139-7675139 12
40 COSM121875983 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.347G>A p.R116Q 17:7674220-7674220 12
41 COSM143371158 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.700C>T p.R234C 17:7673803-7673803 12
42 COSM111921302 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.1043T>A p.L348* 17:7670666-7670666 12
43 COSM144093515 TP53 central nervous system,supratentorial,primitive neuroectodermal tumour-medulloblastoma,NS c.234G>T p.M78I 17:7674252-7674252 12
44 COSM106053434 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.742C>T p.R248W 17:7674221-7674221 12
45 COSM145024458 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.425G>A p.R142H 17:7675070-7675070 12
46 COSM143944601 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.286A>T p.I96F 17:7674200-7674200 12
47 COSM143156608 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.47G>A p.R16H 17:7675088-7675088 12
48 COSM142837497 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.733G>A p.G245S 17:7674230-7674230 12
49 COSM142842863 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.799C>T p.R267W 17:7673821-7673821 12
50 COSM144087230 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,NS c.256G>A p.G86S 17:7674230-7674230 12
Sources

Expression for Atypical Teratoid Rhabdoid Tumor

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

Pathways for Atypical Teratoid Rhabdoid Tumor

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

(show all 23)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.68 VIM TP53 TEAD4 SPP1 IGF2 IGF1R
2
PI3K-Akt signaling pathway 36
Show member pathways
 12.86 TP53 SPP1 IGF2 IGF1R CTNNB1 CCND1
3
Pathways in cancer 36
12.66 TP53 IGF2 IGF1R CTNNB1 CCND1 ALK
4
DNA Damage 4
12.35 VIM TP53 SMARCA4 CCND1 AURKA
5
Chromatin Regulation / Acetylation 4
12.31 SMARCB1 SMARCA4 HMGA2 ATRX
6
Development IGF-1 receptor signaling 23
Show member pathways
 12.28 TP53 IGF2 IGF1R CCND1
7
Translation Non-genomic (rapid) action of Androgen Receptor 23
Show member pathways
 12.2 TP53 IGF1R CTNNB1 CCND1
8
Gastric cancer 36
Show member pathways
 12.17 TP53 SMARCB1 SMARCA4 IGF2 IGF1R CTNNB1
9
Wnt / Hedgehog / Notch 4
12.12 TLE1 TEAD4 LIN28A CTNNB1
10
Proteoglycans in cancer 36
12.11 TP53 IGF2 IGF1R CTNNB1 CCND1
11
Wnt signaling pathway 36
12.06 TP53 TLE1 CTNNB1 CCND1
12
WNT Signaling 63
12.03 VIM TP53 TEAD4 SMARCA4 CTNNB1 CCND1
13
Integrated Breast Cancer Pathway 1
11.84 TP53 SMARCA4 CTNNB1 CCND1 AURKA
14
Spinal Cord Injury 1
11.81 VIM TP53 GFAP CCND1
15
BRCA1 Pathway 63
Show member pathways
 11.69 TP53 SMARCB1 SMARCA4
16
Transcription Ligand-dependent activation of the ESR1/SP pathway 23
Show member pathways
 11.61 SMARCB1 SMARCA4 CCND1
17
Regulation of Wnt-mediated beta catenin signaling and target gene transcription 1
11.57 TLE1 SMARCA4 CTNNB1 CCND1
18
Endochondral Ossification 1
11.56 SPP1 IGF2 IGF1R
19
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.52 VIM SYP SMARCA4 GFAP
20
Presenilin action in Notch and Wnt signaling 1
11.36 TLE1 CTNNB1 CCND1
21
Glioblastoma Multiforme 63
11.07 TP53 IGF2 IGF1R CTNNB1 CCND1
22
G-protein signaling_Rap2B regulation pathway 23
10.87 VIM SPP1 IGF2 IGF1R GFAP ALK
23
LncRNA-mediated mechanisms of therapeutic resistance 1
10.69 TP53 HOTAIR
Sources

GO Terms for Atypical Teratoid Rhabdoid Tumor

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Cellular components related to Atypical Teratoid Rhabdoid Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.46 TP53 TLE1 TEAD4 CTNNB1
2 npBAF complex GO:0071564 9.26 SMARCB1 SMARCA4
3 nuclear chromosome GO:0000228 9.13 SMARCB1 HMGA2 ATRX
4 protein-DNA complex GO:0032993 8.8 TEAD4 HMGA2 CTNNB1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.01 TP53 SMARCA4 IGF2 HMGA2 CTNNB1 CCND1
2 positive regulation of gene expression GO:0010628 9.92 VIM TP53 TLE1 HMGA2 CTNNB1
3 positive regulation of transcription, DNA-templated GO:0045893 9.85 TP53 TEAD4 SPP1 SMARCA4 HMGA2 CTNNB1
4 in utero embryonic development GO:0001701 9.73 TP53 TEAD4 IGF2 CTNNB1
5 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.55 TP53 LIN28A
6 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.51 SMARCB1 SMARCA4
7 embryonic organ development GO:0048568 9.5 TP53 TEAD4 CTNNB1
8 Bergmann glial cell differentiation GO:0060020 9.49 VIM GFAP
9 mitotic G1 DNA damage checkpoint GO:0031571 9.48 TP53 CCND1
10 RNA polymerase I preinitiation complex assembly GO:0001188 9.46 SMARCB1 SMARCA4
11 meiotic spindle organization GO:0000212 9.4 AURKA ATRX
12 positive regulation of glucose mediated signaling pathway GO:1902661 9.26 SMARCB1 SMARCA4
13 positive regulation of transcription by RNA polymerase II GO:0045944 9.23 TP53 TEAD4 SMARCB1 SMARCA4 IGF2 HMGA2
14 intermediate filament-based process GO:0045103 9.16 VIM GFAP
15 beta-catenin-TCF complex assembly GO:1904837 9.13 TLE1 SMARCA4 CTNNB1

Molecular functions related to Atypical Teratoid Rhabdoid Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.38 VIM TP53 TLE1 TEAD4 SYP SPP1
2 p53 binding GO:0002039 9.5 TP53 SMARCB1 SMARCA4
3 transcription corepressor activity GO:0003714 9.46 TLE1 SMARCA4 HMGA2 CCND1
4 Tat protein binding GO:0030957 9.37 SMARCB1 SMARCA4
5 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.26 SMARCB1 SMARCA4
6 nucleosomal DNA binding GO:0031492 9.13 SMARCB1 SMARCA4 HMGA2
7 transcription factor binding GO:0008134 9.1 TP53 TLE1 SMARCA4 HMGA2 CTNNB1 CCND1
Sources

Sources for Atypical Teratoid Rhabdoid Tumor

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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