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ATRT
MCID: ATY005
MIFTS: 66

Atypical Teratoid Rhabdoid Tumor (ATRT)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Atypical Teratoid Rhabdoid Tumor

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MalaCards integrated aliases for Atypical Teratoid Rhabdoid Tumor:

Name: Atypical Teratoid Rhabdoid Tumor 11 58 28 5 14 16 75
Rhabdoid Tumor Predisposition Syndrome 11 24 42 58 5 71
Rtps 24 42 58
Familial Posterior Fossa Brain Tumor of Infancy 42 5
Atypical Teratoid/rhabdoid Tumor 11 71
Rhabdoid Predisposition Syndrome 24 42
Familial Rhabdoid Tumor 42 58
Familial Posterior Fossa Brain Tumor Syndrome 42
Hereditary Swi/snf Deficiency Syndrome 42
Atypical Teratoid Rhabdoid Tumour 11
Atypical Teratoid/rhabdoid Tumour 11
Rhabdoid Tumour of the Cns 11
Rhabdoid Tumor of the Cns 11
at/rt 11
Atrt 58

Characteristics:


Inheritance:

Familial Rhabdoid Tumor: Autosomal dominant 58

Prevelance:

Atypical Teratoid Rhabdoid Tumor: 1-9/100000 (Austria) 58
Familial Rhabdoid Tumor: <1/1000000 (Worldwide) 58

Age Of Onset:

Atypical Teratoid Rhabdoid Tumor: Antenatal,Childhood,Infancy,Neonatal 58
Familial Rhabdoid Tumor: Childhood 58

GeneReviews:

24
Penetrance Smarcb1. penetrance of smarcb1-related rtps may be extremely high (>90% by age 5 years) [holsten et al 2018, nemes et al 2018]. however, these data may be based on selection bias, and larger series of systematically screened trios (parents and affected offspring) are needed to accurately define penetrance. rarely a smarcb1 disease-causing variant is inherited from an unaffected parent or a parent with late-onset or undiagnosed rtps [ammerlaan et al 2008]. germline mosaicism may account for up to half of the families with sibs affected by rtps....

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases Genetic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:2129
NCIt 49 C6906
SNOMED-CT 68 128792003
ICD10 via Orphanet 32 C49.9
UMLS 71 C1266184 C2985524
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Summaries for Atypical Teratoid Rhabdoid Tumor

About this section

MedlinePlus Genetics: 42 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 central nervous system cancer. 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 Chromatin Regulation / Acetylation and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. The drugs Etoposide and Picropodophyllin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and pineal, and related phenotypes are nausea and vomiting and irritability

Orphanet: 58 A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.

Disease Ontology: 11 A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.

Wikipedia: 75 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 429)
# Related Disease Score Top Affiliating Genes
1 rhabdoid cancer 33.6 TP53 SYP SMARCB1 SMARCA4 SHH EWSR1
2 central nervous system cancer 32.0 TP53 SMARCB1 MIR25 MIR142 MIR124-1 MIR106B
3 ewing sarcoma 31.8 TP53 SYP SMARCB1 MYCN MYC EWSR1
4 hydrocephalus 31.7 TP53 SYP SMARCB1 GFAP
5 medulloblastoma 31.7 TP53 SYP SMARCB1 SMARCA4 SHH MYCN
6 brain cancer 31.7 TP53 SYP SMARCB1 SHH NF2 MYCN
7 bap1 tumor predisposition syndrome 31.6 TP53 SMARCB1 SMARCA4 NF2
8 pleomorphic xanthoastrocytoma 31.5 TP53 SYP ATRX
9 kidney rhabdoid cancer 31.4 SMARCB1 SMARCA4 EWSR1
10 rhabdoid meningioma 31.4 SYP SMARCB1 NF2 GFAP
11 ganglioglioma 31.4 TP53 SYP SMARCB1 MYCN GFAP
12 teratoma 31.4 TP53 SYP SHH GFAP
13 inherited cancer-predisposing syndrome 31.2 TP53 SMARCB1 SMARCA4 NF2
14 cellular ependymoma 31.2 SYP NF2 HOTAIR GFAP
15 choroid plexus cancer 31.2 TP53 SYP SMARCB1 SMARCA4 SHH GFAP
16 high grade glioma 31.2 TP53 MIR142 MIR124-1 HOTAIR GFAP
17 neurilemmoma 31.2 TYR SYP SMARCB1 NF2 GFAP
18 mesenchymal cell neoplasm 31.2 TP53 SMARCB1 EWSR1
19 epithelioid sarcoma 31.2 SMARCB1 SMARCA4 EWSR1
20 spinal cancer 31.1 SMARCB1 NF2 GFAP ATRX
21 meningioma, familial 31.1 TP53 SYP SMARCB1 SMARCA4 SHH NF2
22 obstructive hydrocephalus 31.1 SYP SHH NF2 GFAP
23 pineal gland cancer 31.1 SYP SMARCB1 SHH MYCN GFAP
24 gliosarcoma 31.1 TP53 SYP MYCN GFAP ATRX
25 desmoplastic nodular medulloblastoma 31.0 TP53 SYP SMARCB1 SHH MYCN MYC
26 neurilemmomatosis 31.0 SMARCB1 SMARCA4 NF2
27 ovarian small cell carcinoma 31.0 SYP SMARCB1 SMARCA4
28 low grade glioma 31.0 TP53 SYP MIR142 MIR124-1 MIR106B GFAP
29 cauda equina neoplasm 31.0 SYP EWSR1
30 dysembryoplastic neuroepithelial tumor 31.0 SYP GFAP ATRX
31 small-cell carcinoma of the ovary of hypercalcemic type 30.9 TP53 SMARCA4
32 papilloma of choroid plexus 30.9 TP53 SYP SMARCB1 GFAP
33 small cell carcinoma 30.9 TP53 SYP SMARCA4 MYCN
34 anaplastic ependymoma 30.9 SYP SMARCB1 NF2 GFAP
35 neurofibromatosis, type i 30.9 TP53 NF2 EWSR1
36 cerebellopontine angle tumor 30.9 SMARCB1 NF2
37 ectomesenchymoma 30.9 SYP EWSR1
38 sarcoma, synovial 30.9 SMARCB1 SMARCA4 MYCN EWSR1
39 neurofibroma 30.9 TYR TP53 SYP NF2
40 germ cell cancer 30.9 TP53 MYC MIR373 LIN28A
41 glioblastoma 30.9 TP53 SHH NF2 MYCN MYC MIR25
42 childhood medulloblastoma 30.9 TP53 SMARCA4 SHH MYCN MYC
43 kidney cancer 30.9 TP53 MIR142 MIR106B HOTAIR
44 hematologic cancer 30.8 MIR25 MIR142 MIR124-1 MIR106B LUC7L2
45 rhabdomyosarcoma 30.8 TP53 SYP SMARCB1 SMARCA4 SHH MYCN
46 pineoblastoma 30.8 TP53 SYP SMARCB1 SHH MYCN GFAP
47 blastoma 30.8 TP53 SYP SHH MYCN
48 embryonal tumor with multilayered rosettes, c19mc-altered 30.8 SYP SMARCB1 SHH MYCN LIN28A GFAP
49 medulloepithelioma 30.8 SYP SMARCB1 MYCN MIR124-1 LIN28A GFAP
50 leukemia, acute lymphoblastic 30.8 TP53 MYCN MYC MIR142 MIR124-1

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:

58 30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002017
2 irritability 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000737
3 apathy 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000741
4 malignant neoplasm of the central nervous system 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0100836
5 macrocephaly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000256
6 seizure 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001250
7 ataxia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001251
8 hydrocephalus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000238
9 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001324
10 reduced consciousness/confusion 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004372
11 hemiplegia/hemiparesis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004374
12 migraine 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002076
13 limitation of joint mobility 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001376
14 cerebral calcification 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002514
15 cranial nerve paralysis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0006824
16 cerebral palsy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100021

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

25 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 EWSR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.7 TP53
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.7 TP53
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.7 TP53
5 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.7 EWSR1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.7 ATRX LUC7L2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.7 EWSR1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.7 TP53
9 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.7 TP53
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.7 EWSR1 LUC7L2 TP53
11 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.7 TP53
12 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.7 TP53
13 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.7 EWSR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.7 TP53
15 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.7 TP53
16 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.7 EWSR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.7 TP53
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.7 ATRX
19 Increased shRNA abundance (Z-score > 2) GR00366-A-71 9.7 ATRX
20 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.7 EWSR1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.7 EWSR1
22 Increased proliferation GR00094-A 9.13 NF2 SMARCB1 TP53

MGI Mouse Phenotypes related to Atypical Teratoid Rhabdoid Tumor:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.32 ATRX GFAP LIN28A MIR124-1 MYC MYCN
2 normal MP:0002873 10.22 EWSR1 GFAP LIN28A MYC MYCN SHH
3 embryo MP:0005380 10.16 ATRX LIN28A MYC MYCN NF2 SHH
4 muscle MP:0005369 10.15 EWSR1 GFAP LIN28A MYC MYCN SHH
5 cellular MP:0005384 10.15 ATRX EWSR1 GFAP LIN28A MIR124-1 MYC
6 neoplasm MP:0002006 10.14 EWSR1 MYC NF2 SHH SMARCA4 SMARCB1
7 behavior/neurological MP:0005386 10.13 ATRX EWSR1 GFAP LIN28A MIR124-1 MYC
8 limbs/digits/tail MP:0005371 10.08 EWSR1 HOTAIR MYC MYCN SHH SMARCA4
9 digestive/alimentary MP:0005381 10.03 GFAP MYC MYCN NF2 SHH SMARCA4
10 reproductive system MP:0005389 9.96 ATRX EWSR1 LIN28A MYC MYCN NF2
11 craniofacial MP:0005382 9.95 MYC MYCN NF2 SHH SMARCA4 TP53
12 skeleton MP:0005390 9.85 EWSR1 HOTAIR LIN28A MYC MYCN NF2
13 vision/eye MP:0005391 9.65 ATRX GFAP MIR124-1 MYCN NF2 SHH
14 mortality/aging MP:0010768 9.47 ATRX EWSR1 GFAP LIN28A MIR124-1 MIR142
Sources

Drugs & Therapeutics for Atypical Teratoid Rhabdoid Tumor

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

(show top 50) (show all 140)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 3 33419-42-0 36462
2
Picropodophyllin Approved, Investigational Phase 3 518-28-5, 477-47-4 10607 72435
3
Thiotepa Approved, Investigational Phase 3 52-24-4 5453
4
Cisplatin Approved Phase 3 15663-27-1 2767 5702198 441203
5
Lenograstim Approved, Investigational Phase 3 135968-09-1
6
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
7
Carboplatin Approved Phase 3 41575-94-4 10339178 38904
8
Etoposide phosphate Phase 3 16760419
9 Antimitotic Agents Phase 3
10 Keratolytic Agents Phase 3
11 Tubulin Modulators Phase 3
12 Vitamins Phase 3
13 Adjuvants, Immunologic Phase 3
14 Trace Elements Phase 3
15 Antidotes Phase 3
16 Calcium, Dietary Phase 3
17 Micronutrients Phase 3
18 Protective Agents Phase 3
19 Hematinics Phase 3
20
Calcium Nutraceutical Phase 3 7440-70-2 271
21
Dactinomycin Approved, Investigational Phase 2 50-76-0 2019 457193
22
Hydrocortisone succinate Approved Phase 2 2203-97-6 3643
23
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
24
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 3640 5754
25
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
26
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
27
Dexrazoxane Approved, Withdrawn Phase 2 24584-09-6 71384
28
Atezolizumab Approved, Investigational Phase 1, Phase 2 1380723-44-3
29
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
30
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
31
Bevacizumab Approved, Investigational Phase 2 216974-75-3 135329020
32
Fenofibric acid Approved Phase 2 42017-89-0 64929
33
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
34
Nivolumab Approved Phase 1, Phase 2 946414-94-4
35
Ipilimumab Approved Phase 1, Phase 2 477202-00-9
36
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
37
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
38
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
39
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60699 60700
40
Panobinostat Approved, Investigational Phase 2 404950-80-7 6918837
41
Lysine Approved, Nutraceutical Phase 2 56-87-1 5962
42
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
43
Imidazole Experimental, Investigational Phase 2 288-32-4 795
44 Antibiotics, Antitubercular Phase 2
45 Cardiotonic Agents Phase 2
46
Razoxane Phase 2
47 Cactinomycin Phase 2
48 Liposomal doxorubicin Phase 2
49 Hydrocortisone-17-butyrate Phase 2
50 Hydrocortisone 17-butyrate 21-propionate Phase 2

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 Treatment of Patients With Newly Diagnosed Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Active, not recruiting NCT00085202 Phase 3 cisplatin;cyclophosphamide;vincristine
2 Treatment of Atypical Teratoid/Rhabdoid Tumors (AT/RT) of the Central Nervous System With Surgery, Intensive Chemotherapy, and 3-D Conformal Radiation Active, not recruiting NCT00653068 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Leucovorin Calcium;Methotrexate;Thiotepa;Vincristine Sulfate
3 A Phase II Study of Intrathecal and Systemic Chemotherapy With Radiation Therapy for Children With Central Nervous System Atypical Teratoid/Rhabdoid Tumor (AT/RT) Tumor Completed NCT00084838 Phase 2 cisplatin;cyclophosphamide;cytarabine;dexrazoxane hydrochloride;doxorubicin hydrochloride;etoposide;leucovorin calcium;methotrexate;temozolomide;therapeutic hydrocortisone;vincristine sulfate;Dactinomycin
4 A Phase 1/2 Study of Tiragolumab (NSC# 827799) and Atezolizumab (NSC# 783608) in Patients With Relapsed or Refractory SMARCB1 or SMARCA4 Deficient Tumors Recruiting NCT05286801 Phase 1, Phase 2
5 Phase 2 Study of Alisertib as a Single Agent in Recurrent or Progressive Central Nervous System (CNS) Atypical Teratoid Rhabdoid Tumors (AT/RT) and Extra-CNS Malignant Rhabdoid Tumors (MRT) and in Combination Therapy in Newly Diagnosed AT/RT Recruiting NCT02114229 Phase 2 alisertib;methotrexate;cisplatin;carboplatin;cyclophosphamide;etoposide;topotecan;vincristine
6 Phase 2 Proof of Concept Study of Nivolumab and Ipilimumab in Children and Young Adults With Relapsed or Refractory INI1-negative Cancers Recruiting NCT04416568 Phase 2 Nivolumab;Ipilimumab
7 A Phase II Study of Metronomic and Targeted Anti-angiogenesis Therapy for Children With Recurrent/Progressive Medulloblastoma, Ependymoma and ATRT Recruiting NCT01356290 Phase 2 Bevacizumab;Thalidomide;Celecoxib;Fenofibric acid;Etoposide;Cyclophosphamide;Etoposide phosphate;Cytarabine
8 A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma Active, not recruiting NCT02601950 Phase 2 Tazemetostat
9 TAZNI: A Phase I/II Combination Trial of Tazemetostat With Nivolumab and Ipilimumab for Children With INI1-Negative or SMARCA4-Deficient Tumors Not yet recruiting NCT05407441 Phase 1, Phase 2 Tazemetostat;Nivolumab;Ipilimumab
10 A Phase II Study of Intraventricular Methotrexate With Systemic Topotecan and Cyclophosphamide in Children With Recurrent or Progressive Malignant Brain Tumors Terminated NCT02684071 Phase 2 Intra thecal methotrexate;topotecan;cyclophosphamide
11 A Phase II Study of Panobinostat in Pediatric, Adolescent and Young Adult Patients With Solid Tumors Including Osteosarcoma, Malignant Rhabdoid Tumor/Atypical Teratoid Rhabdoid Tumors and Neuroblastoma Terminated NCT04897880 Phase 2 Panobinostat
12 A Phase I Trial of CC-5013 (Lenalidomide) in Pediatric Patients With Recurrent or Refractory Primary CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
13 A Phase I Study of SAHA and Temozolomide in Children With Relapsed or Refractory Primary Brain or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
14 A Phase 1 Study of SAHA (NSC# 701852) in Pediatric Patients With Recurrent or Refractory Solid Tumors (Including Lymphomas) and Leukemia Followed by a Phase I Study of SAHA in Combination With 13-Cis-Retinoic Acid for Patients With Selected Recurrent/Refractory Solid Tumors Completed NCT00217412 Phase 1 vorinostat;isotretinoin
15 A Phase I Clinical Trial of AZD2171 in Children With Recurrent or Progressive Central Nervous System (CNS) Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
16 A Phase I Study of ABT-888, an Oral Inhibitor of Poly (ADP-Ribose) Polymerase and Temozolomide in Children With Recurrent/Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
17 A Phase I and Surgical Study of Ribociclib and Everolimus (RAD001) in Children With Recurrent or Refractory Malignant Brain Tumors Completed NCT03387020 Phase 1 Everolimus;Ribociclib
18 Sirolimus in Combination With Metronomic Therapy in Children With Recurrent and Refractory Solid Tumors: A Phase I Study Completed NCT01331135 Phase 1 sirolimus
19 A Pilot Study of Allogeneic Hematopoietic Cell Transplantation for Patients With High Grade Central Nervous System Malignancies Recruiting NCT04521946 Phase 1 Etoposide;Fludarabine Phosphate;Melphalan;Mycophenolate Mofetil;Tacrolimus;Thiotepa
20 A Phase 1 Study of Modified Measles Virus (MV-NIS) for the Treatment of Children and Young Adults With Recurrent Medulloblastoma or Recurrent Atypical Teratoid Rhabdoid Tumors (ATRT) Recruiting NCT02962167 Phase 1
21 Phase 1 Study of B7-H3-Specific CAR T Cell Locoregional Immunotherapy for Diffuse Intrinsic Pontine Glioma/Diffuse Midline Glioma and Recurrent or Refractory Pediatric Central Nervous System Tumors Recruiting NCT04185038 Phase 1
22 Phase 1 Study of EGFR806-specific CAR T Cell Locoregional Immunotherapy for EGFR-positive Recurrent or Refractory Pediatric Central Nervous System Tumors Recruiting NCT03638167 Phase 1
23 Phase 1 Study of HER2-Specific CAR T Cell Locoregional Immunotherapy for HER2 Positive Recurrent/Refractory Pediatric Central Nervous System Tumors Recruiting NCT03500991 Phase 1
24 Phase Ib Study of Oncolytic Polio/Rhinovirus Recombinant Against Recurrent Malignant Glioma in Children Active, not recruiting NCT03043391 Phase 1
25 Phase 1 Study of Replication Competent Reovirus (Reolysin®) in Combination With GM-CSF in Pediatric Patients With Relapsed or Refractory Brain Tumors Active, not recruiting NCT02444546 Phase 1
26 Molecularly-Driven Doublet Therapy for All Children With Refractory or Recurrent CNS Malignant Neoplasms and Young Adults With Refractory or Recurrent SHH Medulloblastoma Active, not recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib
27 A PHASE 1/2 STUDY OF RO4929097, AN ORAL SMALL MOLECULE INHIBITOR OF GAMMA-SECRETASE, IN CHILDREN WITH RELAPSED/REFRACTORY SOLID OR CNS TUMORS, LYMPHOMA, OR T-CELL LEUKEMIA Terminated NCT01088763 Phase 1 gamma-secretase/Notch signalling pathway inhibitor RO4929097;dexamethasone
28 A Children's Oncology Group Protocol for Collecting and Banking Pediatric Brain Tumor Research Specimens Completed NCT00919750
29 Evaluation of Radiation Therapy Positioning System (RTPS) in Patients With Localized Prostate Cancer Completed NCT00921193
30 Alkylator-Intense Conditioning Followed by Autologous Transplantation for Patients With High Risk or Relapsed Solid or CNS Tumors Recruiting NCT01505569 Ifosfamide;Etoposide;Mesna;Busulfan;Melphalan;Thiotepa;Carboplatin;Paclitaxel;Anti-seizure prophylaxis;Ursodiol
31 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
32 Heterogeneity in Rhabdoid Tumors : Proteomic and Single-Cell Analyses to Identify New Therapeutic Targets Recruiting NCT04868799
33 Hétérogénéité Des Tumeurs Rhabdoides : Approches en " Cellules Uniques " Pour Identifier Des Cibles thérapeutiques Recruiting NCT04987476
34 Tazemetostat Expanded Access Program for Adults With Solid Tumors Temporarily not available NCT03874455 Tazemetostat
35 Gene Expression (GE) and MicroRNA (MIRNA) Expression Profiles of Malignant Rhabdoid Tumors (MRT) of the Kidney (RTK) and Atypical Teratoid Rhabdoid Tumor (ATRT) Withdrawn NCT01453465

Search NIH Clinical Center for Atypical Teratoid Rhabdoid Tumor

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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 28
Sources

Anatomical Context for Atypical Teratoid Rhabdoid Tumor

About this section

Organs/tissues related to Atypical Teratoid Rhabdoid Tumor:

MalaCards : Brain, Spinal Cord, Pineal, Cerebellum, Ovary, Prostate, Whole Blood
Sources

Publications for Atypical Teratoid Rhabdoid Tumor

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Articles related to Atypical Teratoid Rhabdoid Tumor:

(show top 50) (show all 2566)
# Title Authors PMID Year
1
Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). 62 24 5
24123847 2014
2
Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. 62 24 5
21208904 2011
3
Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. 62 5
10521299 1999
4
SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome. 62 24
35446794 2022
5
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group. 62 24
33532948 2021
6
Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases. 62 24
33331994 2021
7
Age and DNA methylation subgroup as potential independent risk factors for treatment stratification in children with atypical teratoid/rhabdoid tumors. 62 24
31883020 2020
8
Molecular subgrouping of atypical teratoid/rhabdoid tumors-a reinvestigation and current consensus. 62 24
31889194 2020
9
Efficacy of High-Dose Chemotherapy and Three-Dimensional Conformal Radiation for Atypical Teratoid/Rhabdoid Tumor: A Report From the Children's Oncology Group Trial ACNS0333. 62 24
32105509 2020
10
Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort. 62 24
31571386 2020
11
Identification and Analyses of Extra-Cranial and Cranial Rhabdoid Tumor Molecular Subgroups Reveal Tumors with Cytotoxic T Cell Infiltration. 62 24
31708418 2019
12
Atypical Teratoid/Rhabdoid Sellar Tumor in an Adult with a Familial History of a Germline SMARCB1 Mutation: Case Report and Review of the Literature. 62 24
31004861 2019
13
The extraordinary challenge of treating patients with congenital rhabdoid tumors-a collaborative European effort. 62 24
29418059 2018
14
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1. 62 24
29779243 2018
15
Emerging therapeutic targets for the treatment of malignant rhabdoid tumors. 62 24
29528755 2018
16
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. 5
28873162 2017
17
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome. 62 24
28620006 2017
18
Atypical teratoid rhabdoid tumor in the first year of life: the Canadian ATRT registry experience and review of the literature. 62 24
28102486 2017
19
Assessment of the treatment approach and survival outcomes in a modern cohort of patients with atypical teratoid rhabdoid tumors using the National Cancer Database. 62 24
27861763 2017
20
Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors. 62 24
27960086 2016
21
Improved 6-year overall survival in AT/RT - results of the registry study Rhabdoid 2007. 62 24
27228363 2016
22
Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes. 62 24
26923874 2016
23
Multimodal therapy in children and adolescents with newly diagnosed atypical teratoid rhabdoid tumor: individual pooled data analysis and review of the literature. 62 24
26608522 2016
24
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. 62 24
26342593 2016
25
Investigation of the location of atypical teratoid/rhabdoid tumor. 62 24
25953096 2015
26
Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis. 62 24
25882982 2015
27
Rhabdoid tumor predisposition syndrome. 62 24
25494491 2015
28
Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor. 62 24
25262118 2014
29
Mechanisms by which SMARCB1 loss drives rhabdoid tumor growth. 62 24
24853101 2014
30
Consistent SMARCB1 homozygous deletions in epithelioid sarcoma and in a subset of myoepithelial carcinomas can be reliably detected by FISH in archival material. 62 24
24585572 2014
31
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. 62 24
23934933 2014
32
Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again. 62 24
23775540 2013
33
Epidemiology of rhabdoid tumors of early childhood. 62 24
22434719 2013
34
Central nervous system atypical teratoid rhabdoid tumours: the Canadian Paediatric Brain Tumour Consortium experience. 62 24
22023887 2012
35
Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. 62 24
20848638 2011
36
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 62 24
20137775 2010
37
Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. 62 24
19064966 2009
38
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. 5
19124645 2009
39
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. 5
18647326 2008
40
Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome. 62 24
18087273 2008
41
A key role of the hSNF5/INI1 tumour suppressor in the control of the G1-S transition of the cell cycle. 5
12226744 2002
42
Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. 5
10739763 2000
43
Current and Emerging Therapeutic Approaches for Extracranial Malignant Rhabdoid Tumors. 24
35173482 2022
44
SMARCA4-deficient rhabdoid tumours show intermediate molecular features between SMARCB1-deficient rhabdoid tumours and small cell carcinomas of the ovary, hypercalcaemic type. 24
33999421 2021
45
Prenatal detection of disseminated extrarenal malignant rhabdoid tumor with placental metastases. 24
32621313 2021
46
Clinical and genetic risk factors define two risk groups of extracranial malignant rhabdoid tumours (eMRT/RTK). 24
33249395 2021
47
Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review. 24
34504799 2021
48
Incidence of childhood renal tumours: An international population-based study. 24
32902866 2020
49
Lineage-Independent Tumors in Bilateral Neuroblastoma. 24
33211929 2020
50
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes? 24
32686290 2020
Sources

Variations for Atypical Teratoid Rhabdoid Tumor

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ClinVar genetic disease variations for Atypical Teratoid Rhabdoid Tumor:

5 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCB1 NM_003073.5(SMARCB1):c.591del (p.Gln198fs) DEL Pathogenic
 8024 rs587776678 GRCh37: 22:24145570-24145570
GRCh38: 22:23803383-23803383
2 SMARCB1 NM_003073.5(SMARCB1):c.986+1G>A SNV Pathogenic
 8025 rs112038099 GRCh37: 22:24167603-24167603
GRCh38: 22:23825416-23825416
3 SMARCB1 NC_000022.11:g.(?_23793553)_(23793694_?)del DEL Pathogenic
 464316 GRCh37: 22:24135740-24135881
GRCh38: 22:23793553-23793694
4 SMARCB1 NM_003073.5(SMARCB1):c.184A>T (p.Lys62Ter) SNV Pathogenic
 464323 rs1555875917 GRCh37: 22:24134033-24134033
GRCh38: 22:23791846-23791846
5 SMARCB1 NC_000022.11:g.(?_23787164)_(23834186_?)del DEL Pathogenic
 464313 GRCh37: 22:24129351-24176373
GRCh38: 22:23787164-23834186
6 SMARCB1 NM_003073.5(SMARCB1):c.118C>T (p.Arg40Ter) SNV Pathogenic
 410698 rs1060503015 GRCh37: 22:24133967-24133967
GRCh38: 22:23791780-23791780
7 SMARCB1 NM_003073.5(SMARCB1):c.629-361_795+2103dup DUP Pathogenic
 8030 GRCh37: 22:24158592-24158593
GRCh38: 22:23816405-23816406
8 SMARCB1 NM_003073.5(SMARCB1):c.812del (p.Gly271fs) DEL Pathogenic
 695025 rs1601433318 GRCh37: 22:24167426-24167426
GRCh38: 22:23825239-23825239
9 SMARCB1 NM_003073.5(SMARCB1):c.1062_1063del (p.Glu354fs) MICROSAT Pathogenic
 1032872 rs2030790572 GRCh37: 22:24175832-24175833
GRCh38: 22:23833645-23833646
10 SMARCB1 NM_003073.5(SMARCB1):c.1118+1G>A SNV Pathogenic
 464317 rs1555881586 GRCh37: 22:24175891-24175891
GRCh38: 22:23833704-23833704
11 SMARCB1 NM_003073.5(SMARCB1):c.137_140dup (p.Tyr47Ter) DUP Pathogenic
 464322 rs1555875892 GRCh37: 22:24133984-24133985
GRCh38: 22:23791797-23791798
12 SMARCB1 NM_003073.5(SMARCB1):c.501-1G>C SNV Pathogenic
 464328 rs1555877276 GRCh37: 22:24145481-24145481
GRCh38: 22:23803294-23803294
13 SMARCB1 NM_003073.5(SMARCB1):c.362+1G>A SNV Pathogenic
 582116 rs1568937197 GRCh37: 22:24135876-24135876
GRCh38: 22:23793689-23793689
14 SMARCB1 NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter) SNV Pathogenic
 410703 rs1060503016 GRCh37: 22:24134001-24134001
GRCh38: 22:23791814-23791814
15 SMARCB1 NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs) DEL Pathogenic
 410704 rs1060503017 GRCh37: 22:24167585-24167592
GRCh38: 22:23825398-23825405
16 TP53 NM_000546.6(TP53):c.733G>A (p.Gly245Ser) SNV Pathogenic
 12365 rs28934575 GRCh37: 17:7577548-7577548
GRCh38: 17:7674230-7674230
17 ATRX NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) SNV Pathogenic
 11724 rs45439799 GRCh37: X:76856021-76856021
GRCh38: X:77600552-77600552
18 SMARCB1 NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter) SNV Pathogenic
 995897 GRCh37: 22:24143240-24143240
GRCh38: 22:23801053-23801053
19 SMARCB1 NC_000022.11:g.(?_23833566)_(23834186_?)del DEL Likely Pathogenic
 532988 GRCh37: 22:24175753-24176373
GRCh38: 22:23833566-23834186
20 SMARCB1 NM_003073.5(SMARCB1):c.1070C>T (p.Thr357Ile) SNV Likely Pathogenic
 580796 rs1555881567 GRCh37: 22:24175842-24175842
GRCh38: 22:23833655-23833655
21 SMARCB1 NM_003073.5(SMARCB1):c.233-2A>G SNV Likely Pathogenic
 581570 rs1568937087 GRCh37: 22:24135744-24135744
GRCh38: 22:23793557-23793557
22 SMARCB1 NM_003073.5(SMARCB1):c.*279G>A SNV Uncertain Significance
 340921 rs886057287 GRCh37: 22:24176646-24176646
GRCh38: 22:23834459-23834459
23 SMARCB1 NM_003073.5(SMARCB1):c.-107A>G SNV Uncertain Significance
 340910 rs886057284 GRCh37: 22:24129250-24129250
GRCh38: 22:23787063-23787063
24 SMARCB1 NM_003073.5(SMARCB1):c.-157G>A SNV Uncertain Significance
 340905 rs886057281 GRCh37: 22:24129200-24129200
GRCh38: 22:23787013-23787013
25 SMARCB1 NM_003073.5(SMARCB1):c.-148T>C SNV Uncertain Significance
 340907 rs886057283 GRCh37: 22:24129209-24129209
GRCh38: 22:23787022-23787022
26 SMARCB1 NM_003073.5(SMARCB1):c.*159C>G SNV Uncertain Significance
 899471 rs1022324232 GRCh37: 22:24176526-24176526
GRCh38: 22:23834339-23834339
27 SMARCB1 NM_003073.5(SMARCB1):c.*113C>T SNV Uncertain Significance
 340920 rs886057286 GRCh37: 22:24176480-24176480
GRCh38: 22:23834293-23834293
28 SMARCB1 NC_000022.10:g.(?_24133937)_(24176373_?)dup DUP Uncertain Significance
 464315 GRCh37: 22:24133937-24176373
GRCh38: 22:23791750-23834186
29 SMARCB1 NC_000022.10:g.(?_24143125)_(24176373_?)dup DUP Uncertain Significance
 464318 GRCh37: 22:24143125-24176373
GRCh38:
30 SMARCB1 NM_003073.5(SMARCB1):c.302A>G (p.Asp101Gly) SNV Uncertain Significance
 582394 rs762188226 GRCh37: 22:24135815-24135815
GRCh38: 22:23793628-23793628
31 SMARCB1 NM_003073.5(SMARCB1):c.284A>G (p.Glu95Gly) SNV Uncertain Significance
 582740 rs1568937129 GRCh37: 22:24135797-24135797
GRCh38: 22:23793610-23793610
32 SMARCB1 NM_003073.5(SMARCB1):c.539C>T (p.Ala180Val) SNV Uncertain Significance
 464329 rs1555877280 GRCh37: 22:24145520-24145520
GRCh38: 22:23803333-23803333
33 SMARCB1 NM_003073.5(SMARCB1):c.613A>T (p.Thr205Ser) SNV Uncertain Significance
 464331 rs1555877290 GRCh37: 22:24145594-24145594
GRCh38: 22:23803407-23803407
34 SMARCB1 NM_003073.5(SMARCB1):c.508G>A (p.Asp170Asn) SNV Uncertain Significance
 565841 rs1568943134 GRCh37: 22:24145489-24145489
GRCh38: 22:23803302-23803302
35 SMARCB1 NM_003073.5(SMARCB1):c.985A>G (p.Ser329Gly) SNV Uncertain Significance
 566461 rs1568957782 GRCh37: 22:24167601-24167601
GRCh38: 22:23825414-23825414
36 SMARCB1 NM_003073.5(SMARCB1):c.469G>T (p.Gly157Cys) SNV Uncertain Significance
 570203 rs1568941668 GRCh37: 22:24143237-24143237
GRCh38: 22:23801050-23801050
37 SMARCB1 NM_003073.5(SMARCB1):c.582G>C (p.Glu194Asp) SNV Uncertain Significance
 571583 rs759241720 GRCh37: 22:24145563-24145563
GRCh38: 22:23803376-23803376
38 SMARCB1 NM_003073.5(SMARCB1):c.828G>A (p.Val276=) SNV Uncertain Significance
 574884 rs1568957579 GRCh37: 22:24167444-24167444
GRCh38: 22:23825257-23825257
39 SMARCB1 NM_003073.5(SMARCB1):c.14C>T (p.Ala5Val) SNV Uncertain Significance
 577312 rs1568933235 GRCh37: 22:24129370-24129370
GRCh38: 22:23787183-23787183
40 SMARCB1 NM_003073.5(SMARCB1):c.673G>T (p.Asp225Tyr) SNV Uncertain Significance
 581167 rs768379745 GRCh37: 22:24159001-24159001
GRCh38: 22:23816814-23816814
41 SMARCB1 NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn) SNV Uncertain Significance
 198489 rs769322487 GRCh37: 22:24167504-24167504
GRCh38: 22:23825317-23825317
42 BRCA2 NM_000059.3(BRCA2):c.9503_9506delinsTAAG (p.Asn3168_Ile3169delinsIleSer) INDEL Uncertain Significance
 620616 rs1566260060 GRCh37: 13:32971036-32971039
GRCh38: 13:32396899-32396902
43 SMARCB1 and overlap with 1 gene(s) NM_003073.4(SMARCB1):c.987-?_*338dup510 DUP Uncertain Significance
 239486 GRCh37: 22:24175759-24176705
GRCh38: 22:23833572-23834518
44 overlap with 2 genes NM_003073.4(SMARCB1):c.-207-?_*338dup1703 DUP Uncertain Significance
 239480 GRCh37: 22:24129150-24176705
GRCh38: 22:23786963-23834518
45 SMARCB1 NM_003073.5(SMARCB1):c.*12_*14dup DUP Uncertain Significance
 340916 rs779825754 GRCh37: 22:24176376-24176377
GRCh38: 22:23834189-23834190
46 SMARCB1 NM_003073.5(SMARCB1):c.790A>C (p.Ile264Leu) SNV Uncertain Significance
 410701 rs887245809 GRCh37: 22:24159118-24159118
GRCh38: 22:23816931-23816931
47 SMARCB1 NM_003073.5(SMARCB1):c.713C>T (p.Ala238Val) SNV Uncertain Significance
 410708 rs1060503019 GRCh37: 22:24159041-24159041
GRCh38: 22:23816854-23816854
48 SMARCB1 NM_003073.5(SMARCB1):c.987-4G>C SNV Uncertain Significance
 340915 rs745773662 GRCh37: 22:24175755-24175755
GRCh38: 22:23833568-23833568
49 SMARCB1 NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) SNV Uncertain Significance
 340912 rs762962010 GRCh37: 22:24145588-24145588
GRCh38: 22:23803401-23803401
50 SMARCB1 NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) SNV Uncertain Significance
 340914 rs752910574 GRCh37: 22:24159051-24159051
GRCh38: 22:23816864-23816864

Cosmic variations for Atypical Teratoid Rhabdoid Tumor:

8 (show top 50) (show all 1788)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM105069436 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.445C>T p.R149* 22:23801053-23801053 23
2 COSM151736677 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.472C>T p.R158* 22:23801053-23801053 23
3 COSM151737743 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.157C>T p.R53* 22:23791819-23791819 23
4 COSM90104450 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.445C>T p.R149* 22:23801053-23801053 23
5 COSM90104345 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.118C>T p.R40* 22:23791780-23791780 23
6 COSM105071673 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.157C>T p.R53* 22:23791819-23791819 23
7 COSM90106002 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.870G>A p.W290* 22:23825272-23825272 23
8 COSM90111259 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.398T>G p.L133* 22:23801006-23801006 23
9 COSM90106422 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.157C>T p.R53* 22:23791819-23791819 23
10 COSM85810567 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.146C>A p.S49* 22:23791808-23791808 23
11 COSM85811673 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.157C>T p.R53* 22:23791819-23791819 23
12 COSM151737406 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.618G>A p.W206* 22:23803412-23803412 23
13 COSM85812637 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.640C>T p.Q214* 22:23816919-23816919 23
14 COSM85809521 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.363-2242C>T p.? 22:23801053-23801053 23
15 COSM151740656 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.793A>T p.K265* 22:23816934-23816934 23
16 COSM105072934 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.751C>T p.Q251* 22:23816919-23816919 23
17 COSM90113916 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.656-1G>A p.? 22:23816769-23816769 23
18 COSM105069320 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.118C>T p.R40* 22:23791780-23791780 23
19 COSM151736605 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.118C>T p.R40* 22:23791780-23791780 23
20 COSM151738500 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.778C>T p.Q260* 22:23816919-23816919 23
21 COSM85816889 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.655A>T p.K219* 22:23816934-23816934 23
22 COSM90105856 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.645G>A p.W215* 22:23803412-23803412 23
23 COSM85815273 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.363-2289T>G p.? 22:23801006-23801006 23
24 COSM105070442 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.146C>A p.S49* 22:23791808-23791808 23
25 COSM85809393 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.118C>T p.R40* 22:23791780-23791780 23
26 COSM105078170 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.766A>T p.K256* 22:23816934-23816934 23
27 COSM151737468 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.843G>A p.W281* 22:23825272-23825272 23
28 COSM90113269 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.820A>T p.K274* 22:23816934-23816934 23
29 COSM151739535 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.916G>T p.E306* 22:23825345-23825345 23
30 COSM105075228 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.889G>T p.E297* 22:23825345-23825345 23
31 COSM151740939 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.629-1G>A p.? 22:23816769-23816769 23
32 COSM105070833 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.816G>A p.W272* 22:23825272-23825272 23
33 COSM105075978 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.398T>G p.L133* 22:23801006-23801006 23
34 COSM85811151 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.480G>A p.W160* 22:23803412-23803412 23
35 COSM151737260 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.146C>A p.S49* 22:23791808-23791808 23
36 COSM85814663 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.778G>T p.E260* 22:23825345-23825345 23
37 COSM105070710 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.591G>A p.W197* 22:23803412-23803412 23
38 COSM105078731 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.602-1G>A p.? 22:23816769-23816769 23
39 COSM85811272 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.705G>A p.W235* 22:23825272-23825272 23
40 COSM151739790 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.425T>G p.L142* 22:23801006-23801006 23
41 COSM90105551 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.146C>A p.S49* 22:23791808-23791808 23
42 COSM90110496 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.943G>T p.E315* 22:23825345-23825345 23
43 COSM90107650 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.805C>T p.Q269* 22:23816919-23816919 23
44 COSM85817357 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.491-1G>A p.? 22:23816769-23816769 23
45 COSM151244868 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 23
46 COSM112773788 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 23
47 COSM148047025 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 23
48 COSM89651412 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 23
49 COSM149457811 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 23
50 COSM138929925 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 23
Sources

Expression for Atypical Teratoid Rhabdoid Tumor

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

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

# Super pathways Score Top Affiliating Genes
1
Chromatin Regulation / Acetylation 3
12.11 SMARCB1 SMARCA4 EWSR1 ATRX
2
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 65
11.58 SMARCA4 SHH MYC LIN28A
3
BRCA1 Pathway 64
Show member pathways
 11.53 TP53 SMARCB1 SMARCA4
4
Pathways affected in adenoid cystic carcinoma 74
11.29 TP53 MYCN ATRX
5
Neural Stem Cells and Lineage-specific Markers 65
11.15 SYP SMARCA4 SHH GFAP
6
miRNAs involved in DNA damage response 74
10.85 TP53 MYC MIR373 MIR25 MIR106B
7
Validated nuclear estrogen receptor beta network 61
10.63 SMARCB1 SMARCA4
8
Mammary gland development pathway - Involution (Stage 4 of 4) 74
10.37 TP53 MYC
9
Notch Pathway 70
9.96 MYCN MYC
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 DNA packaging complex GO:0044815 9.16 SMARCB1 SMARCA4
2 SWI/SNF superfamily-type complex GO:0070603 8.96 SMARCB1 SMARCA4
3 germ cell nucleus GO:0043073 8.92 TP53 SMARCB1

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.87 TP53 SHH MYCN MIR106B LIN28A
2 positive regulation of miRNA transcription GO:1902895 9.85 TP53 SMARCA4 MYC
3 chromosome organization GO:0051276 9.65 TP53 SMARCA4 MYC
4 positive regulation of glucose mediated signaling pathway GO:1902661 9.46 SMARCB1 SMARCA4
5 Schwann cell proliferation GO:0014010 9.26 NF2 GFAP
6 positive regulation of miRNA maturation GO:1903800 8.92 TP53 MYCN LIN28A

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

# Name GO ID Score Top Affiliating Genes
1 mRNA base-pairing translational repressor activity GO:1903231 8.92 MIR373 MIR25 MIR142 MIR106B
Sources

Sources for Atypical Teratoid Rhabdoid Tumor

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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