MCID: RHB001
MIFTS: 68

Rhabdoid Cancer

Categories: Cancer diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Rhabdoid Cancer

MalaCards integrated aliases for Rhabdoid Cancer:

Name: Rhabdoid Cancer 12 15
Rhabdoid Tumor 12 73 20 58 29 54 6 44 70
Rhabdoid Tumor Predisposition Syndrome 1 20 70
Rhabdoid Tumor Predisposition Syndrome 2 20 70
Malignant Rhabdoid Tumour 12 17
Malignant Rhabdoid Tumor 20 58
Rhabdoid Sarcoma 12 20
Brain Tumor, Posterior Fossa, of Infancy, Familial 20
Atypical Teratoid Rhabdoid Tumor 20
Atypical Teratoid/rhabdoid Tumor 70

Characteristics:

Orphanet epidemiological data:

58
rhabdoid tumor
Prevalence: <1/1000000 (Europe); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: early childhood,infantile,stillbirth;

Classifications:



External Ids:

Disease Ontology 12 DOID:3672
MeSH 44 D018335
NCIt 50 C3808
SNOMED-CT 67 83118000
MESH via Orphanet 45 D018335
ICD10 via Orphanet 33 C49.9
UMLS via Orphanet 71 C0206743
Orphanet 58 ORPHA69077
UMLS 70 C0206743 C1266184 C1836327 more

Summaries for Rhabdoid Cancer

GARD : 20 Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In most cases, the first symptoms are linked to the compressive effects of a bulky tumor (such as respiratory distress, abdominal mass, peripheral nerve palsy). In about 90% of cases it is caused by a mutation in the SMARCB1 gene, which is a tumor suppressor gene. In rare cases, it may be caused by a mutation in the SMARCA4 gene. No standard care exists for RT, although there are many ongoing studies. Treatment includes resection of the tumor mass and chemotherapy and radiotherapy. Because atypical teratoid rhabdoid tumors and rhabdoid tumors of the kidney have the same gene mutation and similar biopsy findings, they are now considered identical or closely related entities. Also, 10-15% of patients with malignant rhabdoid tumors have brain tumors.

MalaCards based summary : Rhabdoid Cancer, also known as rhabdoid tumor, is related to kidney rhabdoid cancer and medulloblastoma. An important gene associated with Rhabdoid Cancer is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are Chromatin organization and Chromatin Regulation / Acetylation. The drugs Etoposide and Thiotepa have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and liver, and related phenotypes are nausea and vomiting and hypertension

Disease Ontology : 12 A childhood kidney neoplasm that is located in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.

Wikipedia : 73 Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of... more...

Related Diseases for Rhabdoid Cancer

Diseases related to Rhabdoid Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 421)
# Related Disease Score Top Affiliating Genes
1 kidney rhabdoid cancer 32.6 SYP SMARCC1 SMARCB1 SMARCA4
2 medulloblastoma 32.4 VIM SYP SMARCB1 SMARCA4 IGF2 IGF1R
3 rare tumor 31.6 DES ACTC1
4 secretory meningioma 31.6 VIM SMARCB1 MUC1
5 rhabdoid meningioma 31.5 VIM SYP SMARCB1
6 choroid plexus cancer 31.4 SYP SMARCB1 SMARCA4
7 meningioma, familial 31.3 VIM SYP SMARCB1 MUC1 IGF2 H2AC18
8 cellular ependymoma 31.3 VIM SYP MUC1
9 spindle cell sarcoma 31.3 VIM MUC1 DES ACTC1
10 sarcoma 31.3 WT1 VIM SMARCB1 MUC1 ACTC1
11 chordoma 31.2 VIM SMARCB1 PBRM1 MUC1 DES
12 neurilemmoma 31.2 VIM SMARCB1 MUC1 DES ACTC1
13 central epithelioid sarcoma 31.1 VIM SYP SMARCB1
14 nodular medulloblastoma 31.1 SYP SMARCB1
15 cauda equina neoplasm 31.0 WT1 SYP
16 ependymoblastoma 31.0 VIM SYP SMARCB1
17 brain cancer 30.9 SYP SMARCB1 SMARCA2 H2AC18 ARID1A
18 papilloma of choroid plexus 30.9 SYP SMARCB1 MUC1 IGF2
19 neurofibroma 30.9 VIM SYP MUC1 ACTC1
20 ewing sarcoma 30.9 WT1 VIM SYP PTPRC IGF2 IGF1R
21 fibrous histiocytoma 30.8 VIM DES ACTC1
22 embryonal sarcoma 30.8 VIM MYOD1 DES
23 medulloepithelioma 30.8 VIM SYP SMARCB1 MUC1 DES
24 epithelioid sarcoma 30.8 VIM SYP SMARCB1 PBRM1 MUC1
25 clear cell sarcoma 30.8 WT1 SYP IGF2
26 small cell carcinoma 30.8 SYP SMARCA4 SMARCA2 PTPRC MUC1
27 hemangiopericytoma, malignant 30.7 VIM SYP MUC1 IGF2 DES ACTC1
28 malignant mesenchymoma 30.7 MYOD1 DES
29 olfactory neuroblastoma 30.7 VIM SYP PTPRC
30 nephroma 30.7 WT1 VIM MUC1 IGF2 DES ACTC1
31 hemangioma 30.7 VIM SYP MUC1 IGF2 ACTC1
32 ovarian small cell carcinoma 30.6 WT1 SYP SMARCB1 SMARCA4 MUC1 DES
33 embryonal rhabdomyosarcoma 30.6 MYOD1 IGF2 DES
34 malignant peripheral nerve sheath tumor 30.6 WT1 VIM SMARCB1 MUC1 IGF1R EZH2
35 pleomorphic adenoma 30.6 VIM MUC1 DES ACTC1
36 malignant fibrous histiocytoma 30.6 VIM PTPRC MYOD1 MUC1 DES ACTC1
37 endometrial stromal sarcoma 30.5 VIM H2AC18 DES ACTC1
38 beckwith-wiedemann syndrome 30.5 WT1 STIM1 SMARCB1 MYOD1 IGF2 IGF1R
39 coffin-siris syndrome 1 30.5 SMARCB1 SMARCA4 SMARCA2 H2AC18 DES BANF1
40 myxoid chondrosarcoma 30.5 SYP SMARCB1 MUC1
41 metanephric adenoma 30.5 WT1 VIM MUC1
42 congenital mesoblastic nephroma 30.5 WT1 SMARCB1 IGF2
43 neurilemmomatosis 30.5 SMARCC1 SMARCB1 SMARCA4 SMARCA2 PBRM1 BANF1
44 leiomyosarcoma 30.4 WT1 VIM MUC1 IGF2 DES ACTC1
45 atypical teratoid rhabdoid tumor 30.4 VIM SYP SMARCC1 SMARCB1 SMARCA4 MUC1
46 desmoplastic small round cell tumor 30.4 WT1 VIM SYP PTPRC MYOD1 MUC1
47 myoepithelial carcinoma 30.4 VIM SMARCB1 MUC1 ACTC1
48 sarcoma, synovial 30.4 WT1 VIM SMARCB1 MUC1 IGF2 IGF1R
49 collecting duct carcinoma 30.4 VIM SMARCB1 PBRM1 MUC1
50 rhabdomyosarcoma 2 30.4 WT1 MYOD1 IGF1R DES

Graphical network of the top 20 diseases related to Rhabdoid Cancer:



Diseases related to Rhabdoid Cancer

Symptoms & Phenotypes for Rhabdoid Cancer

Human phenotypes related to Rhabdoid Cancer:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
2 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
3 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
4 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
5 cranial nerve paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0006824
6 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
7 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
8 subcutaneous nodule 58 31 frequent (33%) Frequent (79-30%) HP:0001482
9 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
10 neoplasm of the central nervous system 58 31 frequent (33%) Frequent (79-30%) HP:0100006
11 sarcoma 58 31 frequent (33%) Frequent (79-30%) HP:0100242
12 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
13 internal hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0011029
14 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
15 cerebral palsy 58 31 frequent (33%) Frequent (79-30%) HP:0100021
16 neoplasm of the liver 58 31 frequent (33%) Frequent (79-30%) HP:0002896
17 renal neoplasm 58 31 frequent (33%) Frequent (79-30%) HP:0009726
18 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
19 oculomotor nerve palsy 58 31 frequent (33%) Frequent (79-30%) HP:0012246
20 poor appetite 58 31 frequent (33%) Frequent (79-30%) HP:0004396
21 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
22 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
23 hypercalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003072
24 hemiplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002301

GenomeRNAi Phenotypes related to Rhabdoid Cancer according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.23 ARID1A BANF1 SMARCA4 SMARCB1 SMARCC1
2 Increased Nanog expression GR00371-A-3 9.23 ARID1A
3 Increased Nanog expression GR00371-A-5 9.23 ARID1A BANF1

MGI Mouse Phenotypes related to Rhabdoid Cancer:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 ACTC1 ARID1A DES EZH2 IGF1R IGF2
2 cellular MP:0005384 10.38 ACTC1 ARID1A DES EZH2 IGF1R IGF2
3 homeostasis/metabolism MP:0005376 10.34 ACTC1 ARID1A DES EZH2 IGF1R IGF2
4 mortality/aging MP:0010768 10.34 ACTC1 ARID1A DES EZH2 IGF1R IGF2
5 hematopoietic system MP:0005397 10.32 ACTC1 ARID1A EZH2 IGF1R IGF2 PBRM1
6 embryo MP:0005380 10.3 ACTC1 ARID1A EZH2 IGF1R IGF2 PBRM1
7 immune system MP:0005387 10.26 ARID1A EZH2 IGF1R IGF2 PBRM1 PTPRC
8 muscle MP:0005369 10.18 ACTC1 ARID1A DES EZH2 IGF1R IGF2
9 nervous system MP:0003631 10.1 ACTC1 ARID1A EZH2 IGF1R IGF2 PTPRC
10 liver/biliary system MP:0005370 10.06 IGF1R IGF2 PBRM1 PTPRC SMARCA4 SMARCB1
11 neoplasm MP:0002006 10.02 ARID1A EZH2 IGF1R MYOD1 PTPRC SMARCA2
12 normal MP:0002873 9.91 ACTC1 ARID1A EZH2 MYOD1 PTPRC SMARCA4
13 renal/urinary system MP:0005367 9.76 EZH2 IGF2 PBRM1 PTPRC SMARCA2 SMARCA4
14 respiratory system MP:0005388 9.65 EZH2 IGF1R IGF2 MYOD1 PBRM1 PTPRC
15 skeleton MP:0005390 9.32 ARID1A EZH2 IGF1R IGF2 MYOD1 PTPRC

Drugs & Therapeutics for Rhabdoid Cancer

Drugs for Rhabdoid Cancer (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 152)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 3 33419-42-0 36462
2
Thiotepa Approved, Investigational Phase 3 52-24-4 5453
3
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
4
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
5
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
6
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
7
leucovorin Approved Phase 3 58-05-9 6006
8
Lenograstim Approved, Investigational Phase 3 135968-09-1
9
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
10
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
11 Etoposide phosphate Phase 3
12 Tubulin Modulators Phase 3
13 Antimitotic Agents Phase 3
14 Hormones Phase 3
15 Trace Elements Phase 3
16 Hematinics Phase 3
17 Nutrients Phase 3
18 Micronutrients Phase 3
19 Adjuvants, Immunologic Phase 3
20 Vitamins Phase 3
21 Keratolytic Agents Phase 3
22 Antidotes Phase 3
23 Calcium, Dietary Phase 3
24 Protective Agents Phase 3
25 Podophyllotoxin Phase 3 518-28-5
26 Antibiotics, Antitubercular Phase 3
27
Liposomal doxorubicin Phase 3 31703
28 Anti-Infective Agents Phase 3
29 Anti-Bacterial Agents Phase 3
30 Cactinomycin Phase 3
31
Calcium Nutraceutical Phase 3 7440-70-2 271
32
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
33
Dexrazoxane Approved, Withdrawn Phase 2 24584-09-6 71384
34
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
35
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
36
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
37
Ipilimumab Approved Phase 2 477202-00-9
38
nivolumab Approved Phase 2 946414-94-4
39
Piperazine Approved, Vet_approved Phase 2 110-85-0 4837
40
Palbociclib Approved, Investigational Phase 2 571190-30-2 5005498 5330286 11431660
41
Mebendazole Approved, Vet_approved Phase 2 31431-39-7 4030
42
Olaparib Approved Phase 2 763113-22-0 23725625
43
Vemurafenib Approved Phase 2 918504-65-1 42611257 23252090
44
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616
45
Ivosidenib Approved, Investigational Phase 2 1448347-49-6 71657455
46
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
47
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
48
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60700
49
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
50
Lysine Approved, Nutraceutical Phase 2 56-87-1 5962

Interventional clinical trials:

(show top 50) (show all 70)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
4 Phase II Prospective Study of Sequential Myeloablative Chemotherapy With Stem Cell Rescue for the Treatment of Selected High Risk CNS Tumors and Recurrent CNS Tumors Completed NCT00179803 Phase 2
5 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
6 A Phase II Study of Oxaliplatin in Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumors and Atypical Teratoid Rhabdoid Tumors Completed NCT00047177 Phase 2 Oxaliplatin
7 Treatment of High Risk Renal Tumors: A Groupwide Phase II Study Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
8 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
9 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
10 A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma Recruiting NCT02601950 Phase 2 Tazemetostat
11 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of Palbociclib in Patients With Tumors Harboring Activating Alterations in Cell Cycle Genes Recruiting NCT03526250 Phase 2 Palbociclib
12 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) Screening Protocol Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;Samotolisib;Selpercatinib;Selumetinib Sulfate;Tazemetostat;Tipifarnib;Ulixertinib;Vemurafenib
13 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of BVD-523FB (Ulixertinib) in Patients With Tumors Harboring Activating MAPK Pathway Mutations Recruiting NCT03698994 Phase 2 Ulixertinib
14 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Olaparib in Patients With Tumors Harboring Defects in DNA Damage Repair Genes Recruiting NCT03233204 Phase 2 Olaparib
15 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Vemurafenib in Patients With Tumors Harboring BRAF V600 Mutations Recruiting NCT03220035 Phase 2 Vemurafenib
16 Tazemetostat Rollover Study (TRuST): An Open-Label Rollover Study Recruiting NCT02875548 Phase 2 Tazemetostat
17 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of LOXO-292 in Patients With Tumors Harboring RET Gene Alterations Recruiting NCT04320888 Phase 2 Selpercatinib
18 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of LOXO-101 (Larotrectinib) in Patients With Tumors Harboring Actionable NTRK Fusions Recruiting NCT03213704 Phase 2 Larotrectinib;Larotrectinib Sulfate
19 NCI-COG Pediatric MATCH (Molecular Analysis For Therapy Choice)- Phase 2 Subprotocol of LY3023414 in Patients With Solid Tumors Recruiting NCT03213678 Phase 2 Samotolisib
20 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Tipifarnib in Patients With Tumors Harboring HRAS Genomic Alterations Recruiting NCT04284774 Phase 2 Tipifarnib
21 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of JNJ-42756493 (Erdafitinib) in Patients With Tumors Harboring FGFR1/2/3/4 Alterations Recruiting NCT03210714 Phase 2 Erdafitinib
22 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of AG-120 (Ivosidenib) in Patients With Tumors Harboring IDH1 Mutations Recruiting NCT04195555 Phase 2 Ivosidenib
23 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Active, not recruiting NCT02581384 Phase 1, Phase 2
24 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of Tazemetostat in Patients With Tumors Harboring Alterations in EZH2 or Members of the SWI/SNF Complex Suspended NCT03213665 Phase 2 Tazemetostat
25 Phase II Study of Antineoplastons A10 and AS2-1 in Children With Rhabdoid Tumor of the Central Nervous System Terminated NCT00003469 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
26 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
27 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
28 A Phase I Clinical Trial of AZD2171 in Children With Recurrent or Progressive Central Nervous System (CNS) Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
29 A Phase I Trial of CC-5013 (Lenalidomide) in Pediatric Patients With Recurrent or Refractory Primary CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
30 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
31 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
32 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
33 A Phase I Study of CD45RA+ Depleted Haploidentical Stem Cell Transplantation in Children With Relapsed or Refractory Solid Tumors and Lymphomas Completed NCT01625351 Phase 1 alemtuzumab;fludarabine;sirolimus;Busulfan;melphalan
34 A Phase 1 Study Using Simvastatin in Combination With Topotecan and Cyclophosphamide in Relapsed and/or Refractory Pediatric Solid and CNS Tumors Completed NCT02390843 Phase 1 Simvastatin;Cyclophosphamide;Topotecan;Myeloid growth factor
35 Sirolimus in Combination With Metronomic Therapy in Children With Recurrent and Refractory Solid Tumors: A Phase I Study Completed NCT01331135 Phase 1 sirolimus
36 An Open-Label, Dose Escalation, Efficacy, and Safety Study of CLR 131 in Children, Adolescents, and Young Adults With Select Solid Tumors, Lymphoma, and Malignant Brain Tumors Recruiting NCT03478462 Phase 1 CLR 131
37 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
38 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
39 Phase I Study of EGFR806 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults Recruiting NCT03618381 Phase 1
40 Phase Ib Study of Oncolytic Polio/Rhinovirus Recombinant Against Recurrent Malignant Glioma in Children Recruiting NCT03043391 Phase 1
41 PHASE 1 STUDY TO EVALUATE THE SAFETY AND PHARMACOKINETICS OF PALBOCICLIB (IBRANCE(REGISTERED)) IN COMBINATION WITH IRINOTECAN AND TEMOZOLOMIDE AND IN COMBINATION WITH TOPOTECAN AND CYCLOPHOSPHAMIDE IN PEDIATRIC PATIENTS WITH RECURRENT OR REFRACTORY SOLID TUMORS Recruiting NCT03709680 Phase 1 Palbociclib;Temozolomide;Irinotecan;Topotecan;Cyclophosphamide
42 Phase I Study of B7H3 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults Recruiting NCT04483778 Phase 1
43 A First-in-human Phase I Single-agent Dose-escalation, Food Effect and Dose Expansion Study of Oral ONC206 in Recurrent and Rare Primary Central Nervous System Neoplasms Recruiting NCT04541082 Phase 1 ONC206
44 A Phase I, Open-label Multi-dose Two-part Study to Characterize the Effects of a Strong CYP3A4 Inhibitor and a Strong CYP3A4 Inducer on the Steady-State Pharmacokinetics of Tazemetostat (EPZ-6438) in Subjects With Advanced Malignancies Recruiting NCT04537715 Phase 1 Tazemetostat;Itraconazole;Rifampin
45 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
46 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
47 Molecularly-Driven Doublet Therapy for All Children With Refractory or Recurrent CNS Malignant Neoplasms and Young Adults With Refractory or Recurrent SHH Medulloblastoma Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib
48 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
49 Abemaciclib in Children With Newly Diagnosed Diffuse Intrinsic Pontine Glioma, and in Children With Recurrent and Refractory Solid Tumors Including Malignant Brain Tumors Recruiting NCT02644460 Phase 1 Abemaciclib
50 A Phase 1 Study of the EZH2 Inhibitor Tazemetostat in Pediatric Subjects With Relapsed or Refractory INI1-Negative Tumors or Synovial Sarcoma Recruiting NCT02601937 Phase 1 Tazemetostat

Search NIH Clinical Center for Rhabdoid Cancer

Cochrane evidence based reviews: rhabdoid tumor

Genetic Tests for Rhabdoid Cancer

Genetic tests related to Rhabdoid Cancer:

# Genetic test Affiliating Genes
1 Rhabdoid Tumor 29

Anatomical Context for Rhabdoid Cancer

The Foundational Model of Anatomy Ontology organs/tissues related to Rhabdoid Cancer:

19
Kidney

MalaCards organs/tissues related to Rhabdoid Cancer:

40
Kidney, Brain, Liver, Ovary, Pineal, T Cells, Spinal Cord

Publications for Rhabdoid Cancer

Articles related to Rhabdoid Cancer:

(show top 50) (show all 1414)
# Title Authors PMID Year
1
Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. 6 54 61
10739763 2000
2
Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). 6 61
24123847 2014
3
Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. 61 6
21208904 2011
4
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 61 6
20137775 2010
5
Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. 6 61
10521299 1999
6
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. 6
28608987 2017
7
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. 6
24658001 2014
8
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 6
24658002 2014
9
Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again. 6
23775540 2013
10
Small cell carcinoma of the ovary of hypercalcemic type: a case report. 6
22424359 2012
11
Familial small cell carcinoma of the ovary. 6
19621450 2009
12
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. 6
19124645 2009
13
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. 6
18647326 2008
14
A key role of the hSNF5/INI1 tumour suppressor in the control of the G1-S transition of the cell cycle. 6
12226744 2002
15
Immature teratomas of different origin carried by a pregnant mother and her fetus. 6
8269278 1993
16
Rhabdoid tumor: gene expression clues to pathogenesis and potential therapeutic targets. 54 61
20212451 2010
17
Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. 54 61
19902524 2010
18
Rare intraparenchymal choroid plexus carcinoma resembling atypical teratoid/rhabdoid tumor diagnosed by immunostaining for INI1 protein. 54 61
19795969 2009
19
Epithelioid sarcoma of the parotid gland of a child. 61 54
19335024 2009
20
Urothelial carcinoma of the renal pelvis with rhabdoid features. 54 61
19432675 2009
21
Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas. 61 54
18997735 2009
22
Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior. 61 54
18327209 2008
23
BCR expression is decreased in meningiomas showing loss of heterozygosity of 22q within a new minimal deletion region. 54 61
18474292 2008
24
Uterine neoplasms composed of rhabdoid cells do not exhibit loss of INI1 immunoreactivity and are not related to childhood malignant rhabdoid tumor. 61 54
18317218 2008
25
High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. 61 54
17541642 2007
26
Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. 54 61
17603804 2007
27
Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium. 61 54
17376508 2007
28
New immunohistochemical markers in the evaluation of central nervous system tumors: a review of 7 selected adult and pediatric brain tumors. 61 54
17284108 2007
29
Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. 61 54
16206192 2006
30
Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. 54 61
16261613 2006
31
Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis. 61 54
16528370 2006
32
Loss of the hSNF5 gene concomitantly inactivates p21CIP/WAF1 and p16INK4a activity associated with replicative senescence in A204 rhabdoid tumor cells. 61 54
16288006 2005
33
Pediatric embryonal tumor of the cerebellum with rhabdoid cells and novel intracytoplasmic inclusions: distinction from atypical teratoid/rhabdoid tumor. 54 61
15965700 2005
34
INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas. 61 54
15761491 2005
35
Increased expression of osteopontin gene in atypical teratoid/rhabdoid tumor of the central nervous system. 54 61
15776015 2005
36
INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma. 54 61
15892296 2005
37
Elevation of plasma and cerebrospinal fluid osteopontin levels in patients with atypical teratoid/rhabdoid tumor. 61 54
15842057 2005
38
Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. 61 54
15489652 2004
39
Malignant rhabdoid tumor arising from a pleomorphic adenoma. 61 54
15185263 2004
40
Gastrointestinal stromal tumor of the stomach with rhabdoid phenotype: immunohistochemical, ultrastructural, and immunoelectron microscopic evaluation. 54 61
15471430 2004
41
P16INK4a is required for hSNF5 chromatin remodeler-induced cellular senescence in malignant rhabdoid tumor cells. 61 54
14604992 2004
42
Alpha-internexin expression in medulloblastomas and atypical teratoid-rhabdoid tumors. 54 61
14531545 2003
43
Neuroendocrine carcinomas of the pancreas with 'Rhabdoid' features. 54 61
12717248 2003
44
INI1 expression induces cell cycle arrest and markers of senescence in malignant rhabdoid tumor cells. 54 61
12548550 2003
45
A single-nucleotide polymorphism of SMARCB1 in human breast cancers. 54 61
12213194 2002
46
Subcellular distribution of cytokeratin and vimentin in malignant rhabdoid tumor: three-dimensional imaging with confocal laser scanning microscopy and double immunofluorescence. 61 54
11557780 2001
47
[Atypical teratoid and rhabdoid tumor. Report of a congenital case]. 54 61
11468564 2001
48
Comparative immunohistochemical study of insulin-like growth factor II and insulin-like growth factor receptor type 1 in pediatric brain tumors. 61 54
11200487 2001
49
Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice. 61 54
11095756 2000
50
Mutations of the INI1 rhabdoid tumor suppressor gene in medulloblastomas and primitive neuroectodermal tumors of the central nervous system. 54 61
10914721 2000

Variations for Rhabdoid Cancer

ClinVar genetic disease variations for Rhabdoid Cancer:

6 (show top 50) (show all 2029)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCB1 NM_003073.5(SMARCB1):c.591del (p.Gln198fs) Deletion 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 SMARCA4 NM_003072.4(SMARCA4):c.3533G>A (p.Trp1178Ter) SNV Pathogenic 139439 rs587777460 GRCh37: 19:11141556-11141556
GRCh38: 19:11030880-11030880
4 SMARCA4 NM_003072.4(SMARCA4):c.4170+1G>A SNV Pathogenic 139440 rs587777461 GRCh37: 19:11145809-11145809
GRCh38: 19:11035133-11035133
5 SMARCA4 NM_003072.4(SMARCA4):c.643C>T (p.Gln215Ter) SNV Pathogenic 139441 rs587777462 GRCh37: 19:11097152-11097152
GRCh38: 19:10986476-10986476
6 SMARCA4 NM_003072.4(SMARCA4):c.2617-3C>G SNV Pathogenic 139442 rs587777463 GRCh37: 19:11132398-11132398
GRCh38: 19:11021722-11021722
7 SMARCA4 NM_003072.4(SMARCA4):c.3239G>A (p.Gly1080Asp) SNV Pathogenic 139443 rs587777464 GRCh37: 19:11138483-11138483
GRCh38: 19:11027807-11027807
8 SMARCA4 NM_001128849.2(SMARCA4):c.2922del (p.Phe975fs) Deletion Pathogenic 212245 rs797045980 GRCh37: 19:11134254-11134254
GRCh38: 19:11023578-11023578
9 SMARCA4 NM_001128849.2(SMARCA4):c.3480dup (p.Leu1161fs) Duplication Pathogenic 212249 rs797045982 GRCh37: 19:11141497-11141498
GRCh38: 19:11030821-11030822
10 SMARCA4 NM_001128849.2(SMARCA4):c.4763del (p.Val1588fs) Deletion Pathogenic 212258 rs797045987 GRCh37: 19:11170460-11170460
GRCh38: 19:11059784-11059784
11 SMARCA4 NM_001128849.2(SMARCA4):c.4339C>T (p.Arg1447Ter) SNV Pathogenic 238464 rs878854224 GRCh37: 19:11152055-11152055
GRCh38: 19:11041379-11041379
12 SMARCB1 NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter) SNV Pathogenic 410703 rs1060503016 GRCh37: 22:24134001-24134001
GRCh38: 22:23791814-23791814
13 SMARCA4 NC_000019.10:g.(?_10984121)_(11062282_?)del Deletion Pathogenic 417442 GRCh37: 19:11094797-11172958
GRCh38: 19:10984121-11062282
14 SMARCB1 NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs) Deletion Pathogenic 410704 rs1060503017 GRCh37: 22:24167585-24167592
GRCh38: 22:23825398-23825405
15 SMARCB1 NM_003073.5(SMARCB1):c.118C>T (p.Arg40Ter) SNV Pathogenic 410698 rs1060503015 GRCh37: 22:24133967-24133967
GRCh38: 22:23791780-23791780
16 SMARCA4 NM_003072.4(SMARCA4):c.662del (p.Pro221fs) Deletion Pathogenic 408653 rs1060502085 GRCh37: 19:11097170-11097170
GRCh38: 19:10986494-10986494
17 SMARCB1 NC_000022.11:g.(?_23793553)_(23793694_?)del Deletion Pathogenic 464316 GRCh37: 22:24135740-24135881
GRCh38: 22:23793553-23793694
18 SMARCB1 NM_003073.5(SMARCB1):c.184A>T (p.Lys62Ter) SNV Pathogenic 464323 rs1555875917 GRCh37: 22:24134033-24134033
GRCh38: 22:23791846-23791846
19 SMARCA4 NM_003072.4(SMARCA4):c.300_301del (p.Gly102fs) Deletion Pathogenic 470331 rs780424104 GRCh37: 19:11096026-11096027
GRCh38: 19:10985350-10985351
20 SMARCB1 NC_000022.11:g.(?_23787164)_(23834186_?)del Deletion Pathogenic 464313 GRCh37: 22:24129351-24176373
GRCh38: 22:23787164-23834186
21 SMARCB1 NM_003073.5(SMARCB1):c.1118+1G>A SNV Pathogenic 464317 rs1555881586 GRCh37: 22:24175891-24175891
GRCh38: 22:23833704-23833704
22 SMARCA4 NC_000019.10:g.(?_11018951)_(11030899_?)del Deletion Pathogenic 470218 GRCh37: 19:11129627-11141575
GRCh38: 19:11018951-11030899
23 SMARCB1 NM_003073.5(SMARCB1):c.137_140dup (p.Tyr47Ter) Duplication Pathogenic 464322 rs1555875892 GRCh37: 22:24133984-24133985
GRCh38: 22:23791797-23791798
24 SMARCB1 NM_003073.5(SMARCB1):c.501-1G>C SNV Pathogenic 464328 rs1555877276 GRCh37: 22:24145481-24145481
GRCh38: 22:23803294-23803294
25 SMARCA4 NM_001128849.2(SMARCA4):c.823C>T (p.Gln275Ter) SNV Pathogenic 537803 rs1555754293 GRCh37: 19:11097643-11097643
GRCh38: 19:10986967-10986967
26 SMARCA4 NM_001128849.2(SMARCA4):c.4756C>T (p.Gln1586Ter) SNV Pathogenic 537813 rs1555795884 GRCh37: 19:11170453-11170453
GRCh38: 19:11059777-11059777
27 SMARCA4 NM_001128849.2(SMARCA4):c.2164C>T (p.Gln722Ter) SNV Pathogenic 537814 rs1555773269 GRCh37: 19:11121097-11121097
GRCh38: 19:11010421-11010421
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.1408C>T (p.Gln470Ter) SNV Pathogenic 537800 rs1555757738 GRCh37: 19:11101988-11101988
GRCh38: 19:10991312-10991312
30 SMARCA4 NM_001128849.2(SMARCA4):c.1831C>T (p.Gln611Ter) SNV Pathogenic 567436 rs1568455217 GRCh37: 19:11113723-11113723
GRCh38: 19:11003047-11003047
31 SMARCA4 NM_001128849.2(SMARCA4):c.4567C>T (p.Arg1523Ter) SNV Pathogenic 567464 rs758517117 GRCh37: 19:11168977-11168977
GRCh38: 19:11058301-11058301
32 SMARCA4 NM_001128849.2(SMARCA4):c.493C>T (p.Gln165Ter) SNV Pathogenic 574179 rs1568422286 GRCh37: 19:11097002-11097002
GRCh38: 19:10986326-10986326
33 SMARCA4 NM_001128849.2(SMARCA4):c.229G>T (p.Glu77Ter) SNV Pathogenic 580699 rs1568419675 GRCh37: 19:11095955-11095955
GRCh38: 19:10985279-10985279
34 SMARCA4 NM_001128849.2(SMARCA4):c.1754_1757del (p.Lys585fs) Deletion Pathogenic 640321 rs1555763780 GRCh37: 19:11107048-11107051
GRCh38: 19:10996372-10996375
35 SMARCA4 NM_003072.4(SMARCA4):c.2329del (p.Leu777fs) Deletion Pathogenic 537835 rs1555774702 GRCh37: 19:11123678-11123678
GRCh38: 19:11013002-11013002
36 SMARCB1 NM_003073.5(SMARCB1):c.362+1G>A SNV Pathogenic 582116 rs1568937197 GRCh37: 22:24135876-24135876
GRCh38: 22:23793689-23793689
37 SMARCA4 NM_001128849.2(SMARCA4):c.2932C>T (p.Arg978Ter) SNV Pathogenic 639395 rs1064796254 GRCh37: 19:11134266-11134266
GRCh38: 19:11023590-11023590
38 SMARCA4 NM_001128849.2(SMARCA4):c.2032C>T (p.Gln678Ter) SNV Pathogenic 486489 rs1555771571 GRCh37: 19:11118608-11118608
GRCh38: 19:11007932-11007932
39 SMARCA4 NM_001128849.2(SMARCA4):c.4834G>T (p.Glu1612Ter) SNV Pathogenic 664097 rs1600644640 GRCh37: 19:11170531-11170531
GRCh38: 19:11059855-11059855
40 SMARCB1 NM_003073.5(SMARCB1):c.812del (p.Gly271fs) Deletion Pathogenic 695025 rs1601433318 GRCh37: 22:24167426-24167426
GRCh38: 22:23825239-23825239
41 SMARCA4 NM_001128849.2(SMARCA4):c.1189C>T (p.Arg397Ter) SNV Pathogenic 661795 rs1295192121 GRCh37: 19:11100063-11100063
GRCh38: 19:10989387-10989387
42 SMARCA4 NC_000019.10:g.(?_11018947)_(11030903_?)del Deletion Pathogenic 584068 GRCh37: 19:11129623-11141579
GRCh38: 19:11018947-11030903
43 SMARCA4 NM_003072.5(SMARCA4):c.1155_1157del (p.Glu386del) Deletion Pathogenic 438797 rs1555756326 GRCh37: 19:11100029-11100031
GRCh38: 19:10989353-10989355
44 SMARCA4 NM_003072.5(SMARCA4):c.1243C>T (p.Gln415Ter) SNV Pathogenic 835142 GRCh37: 19:11100117-11100117
GRCh38: 19:10989441-10989441
45 SMARCA4 NM_003072.5(SMARCA4):c.916C>T (p.Gln306Ter) SNV Pathogenic 844961 GRCh37: 19:11098398-11098398
GRCh38: 19:10987722-10987722
46 SMARCA4 NM_003072.5(SMARCA4):c.2292G>A (p.Trp764Ter) SNV Pathogenic 846208 GRCh37: 19:11123642-11123642
GRCh38: 19:11012966-11012966
47 SMARCA4 NM_003072.5(SMARCA4):c.3169G>T (p.Glu1057Ter) SNV Pathogenic 839007 GRCh37: 19:11136976-11136976
GRCh38: 19:11026300-11026300
48 SMARCA4 NM_003072.5(SMARCA4):c.3809_3825dup (p.Pro1276fs) Duplication Pathogenic 854412 GRCh37: 19:11144476-11144477
GRCh38: 19:11033800-11033801
49 SMARCA4 NM_003072.5(SMARCA4):c.1543C>T (p.Gln515Ter) SNV Pathogenic 854522 GRCh37: 19:11105627-11105627
GRCh38: 19:10994951-10994951
50 SMARCA4 NM_003072.5(SMARCA4):c.1681del (p.Val561fs) Deletion Pathogenic 855568 GRCh37: 19:11106976-11106976
GRCh38: 19:10996300-10996300

Cosmic variations for Rhabdoid Cancer:

9 (show top 50) (show all 304)
# 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 6
2 COSM151737743 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.157C>T p.R53* 22:23791819-23791819 6
3 COSM90104450 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.445C>T p.R149* 22:23801053-23801053 6
4 COSM90104345 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.118C>T p.R40* 22:23791780-23791780 6
5 COSM105071673 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.157C>T p.R53* 22:23791819-23791819 6
6 COSM90106002 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.870G>A p.W290* 22:23825272-23825272 6
7 COSM90111259 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.398T>G p.L133* 22:23801006-23801006 6
8 COSM85810567 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.146C>A p.S49* 22:23791808-23791808 6
9 COSM85811673 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.157C>T p.R53* 22:23791819-23791819 6
10 COSM151737406 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.618G>A p.W206* 22:23803412-23803412 6
11 COSM85809521 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.363-2242C>T p.? 22:23801053-23801053 6
12 COSM151740656 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.793A>T p.K265* 22:23816934-23816934 6
13 COSM90113916 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.656-1G>A p.? 22:23816769-23816769 6
14 COSM85816889 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.655A>T p.K219* 22:23816934-23816934 6
15 COSM90105856 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.645G>A p.W215* 22:23803412-23803412 6
16 COSM85815273 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.363-2289T>G p.? 22:23801006-23801006 6
17 COSM105070442 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.146C>A p.S49* 22:23791808-23791808 6
18 COSM105078170 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.766A>T p.K256* 22:23816934-23816934 6
19 COSM90113269 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.820A>T p.K274* 22:23816934-23816934 6
20 COSM151739535 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.916G>T p.E306* 22:23825345-23825345 6
21 COSM105075228 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.889G>T p.E297* 22:23825345-23825345 6
22 COSM151740939 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.629-1G>A p.? 22:23816769-23816769 6
23 COSM105070833 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.816G>A p.W272* 22:23825272-23825272 6
24 COSM105075978 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.398T>G p.L133* 22:23801006-23801006 6
25 COSM85811151 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.480G>A p.W160* 22:23803412-23803412 6
26 COSM151737260 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.146C>A p.S49* 22:23791808-23791808 6
27 COSM85814663 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.778G>T p.E260* 22:23825345-23825345 6
28 COSM105070710 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.591G>A p.W197* 22:23803412-23803412 6
29 COSM105078731 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.602-1G>A p.? 22:23816769-23816769 6
30 COSM151739790 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.425T>G p.L142* 22:23801006-23801006 6
31 COSM90105551 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.146C>A p.S49* 22:23791808-23791808 6
32 COSM90110496 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.943G>T p.E315* 22:23825345-23825345 6
33 COSM90107650 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.805C>T p.Q269* 22:23816919-23816919 6
34 COSM85817357 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.491-1G>A p.? 22:23816769-23816769 6
35 COSM151244868 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
36 COSM112773788 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
37 COSM148047025 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
38 COSM89651412 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
39 COSM149457811 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
40 COSM138929925 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
41 COSM131010642 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
42 COSM140833227 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
43 COSM150567806 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
44 COSM111384984 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
45 COSM151620753 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
46 COSM151419055 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
47 COSM151942029 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
48 COSM151518941 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
49 COSM106807778 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3421C>T p.R1141* 19:11027797-11027797 6
50 COSM109727417 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6

Expression for Rhabdoid Cancer

Search GEO for disease gene expression data for Rhabdoid Cancer.

Pathways for Rhabdoid Cancer

GO Terms for Rhabdoid Cancer

Cellular components related to Rhabdoid Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.25 WT1 VIM SMARCC1 SMARCB1 SMARCA4 SMARCA2
2 chromatin GO:0000785 9.96 WT1 SMARCC1 SMARCB1 SMARCA4 SMARCA2 MYOD1
3 SWI/SNF complex GO:0016514 9.55 SMARCC1 SMARCB1 SMARCA4 SMARCA2 ARID1A
4 intermediate filament cytoskeleton GO:0045111 9.54 VIM SMARCA2 DES
5 XY body GO:0001741 9.43 SMARCC1 SMARCB1
6 nBAF complex GO:0071565 9.35 SMARCC1 SMARCB1 SMARCA4 SMARCA2 ARID1A
7 brahma complex GO:0035060 9.32 SMARCB1 ARID1A
8 npBAF complex GO:0071564 9.02 SMARCC1 SMARCB1 SMARCA4 SMARCA2 ARID1A

Biological processes related to Rhabdoid Cancer according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.08 WT1 SMARCC1 SMARCB1 SMARCA4 SMARCA2 MYOD1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10 WT1 SMARCC1 SMARCB1 SMARCA4 SMARCA2 MYOD1
3 nervous system development GO:0007399 9.93 SMARCC1 SMARCB1 SMARCA4 SMARCA2 ARID1A
4 positive regulation of transcription, DNA-templated GO:0045893 9.91 WT1 SMARCC1 SMARCA4 SMARCA2 MYOD1 ARID1A
5 chromatin organization GO:0006325 9.73 SMARCC1 SMARCB1 SMARCA4 PBRM1 EZH2 ARID1A
6 insulin receptor signaling pathway GO:0008286 9.7 SMARCC1 IGF2 IGF1R
7 DNA integration GO:0015074 9.55 SMARCB1 BANF1
8 muscle filament sliding GO:0030049 9.54 VIM DES ACTC1
9 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.51 SMARCB1 SMARCA4
10 RNA polymerase I preinitiation complex assembly GO:0001188 9.49 SMARCB1 SMARCA4
11 nucleosome disassembly GO:0006337 9.46 SMARCC1 SMARCB1 SMARCA4 ARID1A
12 chromatin remodeling GO:0006338 9.43 SMARCC1 SMARCB1 SMARCA4 SMARCA2 PBRM1 ARID1A
13 positive regulation of histone H4 acetylation GO:0090240 9.4 SMARCB1 MUC1
14 positive regulation of glucose mediated signaling pathway GO:1902661 9.32 SMARCB1 SMARCA4
15 ATP-dependent chromatin remodeling GO:0043044 9.1 SMARCC1 SMARCB1 SMARCA4 SMARCA2 PBRM1 ARID1A

Molecular functions related to Rhabdoid Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.43 WT1 VIM SYP STIM1 SMARCC1 SMARCB1
2 chromatin binding GO:0003682 9.8 SMARCC1 SMARCA2 PBRM1 MYOD1 EZH2
3 DNA binding GO:0003677 9.65 WT1 SMARCB1 SMARCA4 SMARCA2 PBRM1 MYOD1
4 p53 binding GO:0002039 9.54 SMARCB1 SMARCA4 MUC1
5 Tat protein binding GO:0030957 9.43 SMARCB1 SMARCA4
6 nucleosomal DNA binding GO:0031492 9.33 SMARCC1 SMARCB1 SMARCA4
7 hydrolase activity, acting on acid anhydrides GO:0016817 9.32 SMARCA4 SMARCA2
8 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.26 SMARCB1 SMARCA4
9 transcription coactivator activity GO:0003713 9.02 SMARCC1 SMARCB1 SMARCA4 SMARCA2 ARID1A

Sources for Rhabdoid Cancer

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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