MCID: RHB001
MIFTS: 63

Rhabdoid Cancer

Categories: Cancer diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rhabdoid Cancer

MalaCards integrated aliases for Rhabdoid Cancer:

Name: Rhabdoid Cancer 12 15
Rhabdoid Tumor 12 74 52 58 43 71
Rhabdoid Tumor Predisposition Syndrome 1 52 71
Rhabdoid Tumor Predisposition Syndrome 2 52 71
Malignant Rhabdoid Tumour 12 17
Malignant Rhabdoid Tumor 52 58
Rhabdoid Sarcoma 12 52
Brain Tumor, Posterior Fossa, of Infancy, Familial 52
Atypical Teratoid Rhabdoid Tumor 52
Atypical Teratoid/rhabdoid Tumor 71

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 43 D018335
NCIt 49 C3808
SNOMED-CT 67 83118000
MESH via Orphanet 44 D018335
ICD10 via Orphanet 33 C49.9
UMLS via Orphanet 72 C0206743
Orphanet 58 ORPHA69077
UMLS 71 C0206743 C1266184 C1836327 more

Summaries for Rhabdoid Cancer

NIH Rare Diseases : 52 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 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Lenograstim and Etoposide 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 : 74 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 353)
# Related Disease Score Top Affiliating Genes
1 kidney rhabdoid cancer 33.9 SMARCC2 SMARCC1 SMARCB1 SMARCA4 EWSR1
2 medulloblastoma 32.6 TP53 SMARCB1 SMARCA4 MYOG KDM4C EZH2
3 wilms tumor 1 32.3 TP53 SMARCB1 PAF1 MYOG H2AC18 EWSR1
4 choroid plexus cancer 31.5 TP53 SMARCB1 SMARCA4
5 spinal meningioma 31.3 SMARCE1 SMARCB1 PBRM1 ARID1B
6 central nervous system cancer 31.3 TP53 SMARCB1 KDM4C H2AC18
7 ganglioglioma 31.2 TP53 SMARCB1 KDM4C
8 meningioma, familial 31.2 TP53 SMARCE1 SMARCB1 H2AC18
9 atypical teratoid rhabdoid tumor 31.0 TP53 SMARCB1 SMARCA4
10 small cell carcinoma 30.8 TP53 SMARCA4 SMARCA2
11 sarcoma, synovial 30.6 SS18 SMARCB1 MYOG EWSR1
12 malignant peripheral nerve sheath tumor 30.6 TP53 SMARCB1 MYOG EZH2
13 beckwith-wiedemann syndrome 30.6 TP53 SMARCB1 KDM4C H2AC18 EZH2
14 sarcoma 30.5 TP53 SS18 SMARCB1 MYOG EWSR1
15 soft tissue sarcoma 30.5 TP53 EWSR1
16 histiocytoma 30.5 TP53 MYOG EWSR1
17 mesenchymal cell neoplasm 30.5 TP53 SS18 MYOG EWSR1
18 brain cancer 30.4 TP53 SMARCB1 SMARCA2 PAF1 KDM4C H2AC18
19 extraosseous chondrosarcoma 30.4 SS18 SMARCB1 EWSR1
20 chondrosarcoma, extraskeletal myxoid 30.4 SS18 SMARCB1 EWSR1
21 embryonal sarcoma 30.4 TP53 MYOG
22 myoepithelial carcinoma 30.4 TP53 SMARCB1 EWSR1
23 basal cell nevus syndrome 30.3 TP53 SMARCB1 KDM4C
24 embryonal rhabdomyosarcoma 30.3 TP53 MYOG EWSR1
25 ewing sarcoma 30.0 TP53 SS18 MYOG EWSR1
26 rhabdomyosarcoma 2 30.0 TP53 SS18 MYOG EWSR1
27 coffin-siris syndrome 1 29.5 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 H2AC18
28 neurilemmomatosis 29.0 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
29 rhabdoid tumor predisposition syndrome 2 12.9
30 striated muscle rhabdoid tumor 12.3
31 hydrocephalus 10.7
32 monosomy 22 10.6
33 rare tumor 10.6
34 schizophrenia 7 10.6 SMARCA2 H2AC18
35 peripheral nerve schwannoma 10.6 SMARCE1 SMARCB1
36 meningioma, radiation-induced 10.5
37 respiratory failure 10.5
38 secretory meningioma 10.5
39 lymphoplasmacyte-rich meningioma 10.5
40 alpha thalassemia-x-linked intellectual disability syndrome 10.5 SMARCA4 SMARCA2 H2AC18
41 nut midline carcinoma 10.5 SMARCB1 KDM4C H2AC18
42 kleefstra syndrome 1 10.5 SMARCB1 KDM4C H2AC18
43 teratoma 10.5
44 intracranial hypertension 10.5
45 immunodeficiency-centromeric instability-facial anomalies syndrome 10.5 SMARCA4 SMARCA2 H2AC18
46 epithelioid sarcoma 10.5
47 enamel erosion 10.5 SMARCA4 SMARCA2
48 juxtacortical chondroma 10.5 KDM4C BRD7
49 epithelioid malignant peripheral nerve sheath tumor 10.5 SS18 SMARCB1
50 juvenile type testicular granulosa cell tumor 10.5 SMARCB1 SMARCA4

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 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 Frequent (79-30%)
2 hypertension 58 Frequent (79-30%)
3 respiratory insufficiency 58 Frequent (79-30%)
4 fever 58 Frequent (79-30%)
5 cranial nerve paralysis 58 Frequent (79-30%)
6 subcutaneous nodule 58 Frequent (79-30%)
7 anemia 58 Occasional (29-5%)
8 abdominal pain 58 Frequent (79-30%)
9 irritability 58 Frequent (79-30%)
10 weight loss 58 Frequent (79-30%)
11 hematuria 58 Frequent (79-30%)
12 thrombocytopenia 58 Occasional (29-5%)
13 neoplasm of the central nervous system 58 Frequent (79-30%)
14 sarcoma 58 Frequent (79-30%)
15 headache 58 Frequent (79-30%)
16 hypercalcemia 58 Occasional (29-5%)
17 internal hemorrhage 58 Frequent (79-30%)
18 cerebral palsy 58 Frequent (79-30%)
19 lymphadenopathy 58 Frequent (79-30%)
20 hemiplegia 58 Occasional (29-5%)
21 neoplasm of the liver 58 Frequent (79-30%)
22 renal neoplasm 58 Frequent (79-30%)
23 poor appetite 58 Frequent (79-30%)
24 oculomotor nerve palsy 58 Frequent (79-30%)

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

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NF-kappaB reporter expression GR00312-A 9.85 ARID1A ARID1B BRD7 EWSR1 EZH2 H2AC18
2 Increased Nanog expression GR00371-A-1 9.7 ARID1A BANF1 BRD7 SMARCA4 SMARCB1 SMARCC1
3 Increased Nanog expression GR00371-A-2 9.7 SMARCE1
4 Increased Nanog expression GR00371-A-3 9.7 ARID1A
5 Increased Nanog expression GR00371-A-5 9.7 ARID1A BANF1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.62 SMARCC1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.62 SMARCA4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.62 PAF1 SMARCC1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.62 SMARCC1 SMARCE1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.62 PAF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.62 PAF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.62 SMARCE1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.62 SMARCA4 SMARCE1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.62 PAF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.62 SMARCE1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.62 SMARCE1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.62 PAF1 SMARCA4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.62 PAF1 SMARCA4 SMARCC1 SMARCE1

MGI Mouse Phenotypes related to Rhabdoid Cancer:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 ARID1A ARID1B BRD7 EZH2 KDM4C MYOG
2 cellular MP:0005384 10.17 ARID1A ARID2 EZH2 KDM4C MYOG SMARCA2
3 cardiovascular system MP:0005385 10.16 ARID1A ARID1B ARID2 BRD7 EZH2 PBRM1
4 embryo MP:0005380 10.14 ARID1A EZH2 MYOG PAF1 PBRM1 SMARCA4
5 mortality/aging MP:0010768 10.09 ARID1A ARID1B ARID2 BRD7 EZH2 KDM4C
6 immune system MP:0005387 10.06 ARID1A ARID1B ARID2 EZH2 KDM4C PBRM1
7 integument MP:0010771 9.91 ARID1B BRD7 EZH2 KDM4C MYOG SMARCA2
8 muscle MP:0005369 9.61 ARID1A ARID1B ARID2 EZH2 MYOG SMARCA2
9 neoplasm MP:0002006 9.17 ARID1A EZH2 KDM4C SMARCA2 SMARCA4 SMARCB1

Drugs & Therapeutics for Rhabdoid Cancer

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

(show top 50) (show all 171)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 3 135968-09-1
2
Etoposide Approved Phase 3 33419-42-0 36462
3
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
4
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
5
Sulfamethoxazole Approved Phase 3 723-46-6 5329
6
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
8
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
9
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
10
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
11
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
12
leucovorin Approved Phase 3 58-05-9 6006 143
13
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
14
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
15
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
16
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
17
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
18 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
19
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
20 Immunologic Factors Phase 3
21 Alkylating Agents Phase 3
22 Immunosuppressive Agents Phase 3
23 Antimitotic Agents Phase 3
24 Etoposide phosphate Phase 3
25 Liver Extracts Phase 3
26 Anesthetics Phase 3
27 Cola Phase 3
28 Narcotics Phase 3
29 Anesthetics, General Phase 3
30 Analgesics, Opioid Phase 3
31 Adjuvants, Anesthesia Phase 3
32 Central Nervous System Depressants Phase 3
33 Anesthetics, Intravenous Phase 3
34 Analgesics Phase 3
35 Antirheumatic Agents Phase 3
36 Folic Acid Antagonists Phase 3
37 Vitamin B Complex Phase 3
38 Topoisomerase Inhibitors Phase 3
39 Vitamin B9 Phase 3
40 Dermatologic Agents Phase 3
41 Folate Phase 3
42 Antimetabolites Phase 3
43 Trace Elements Phase 3
44 Vitamins Phase 3
45 Micronutrients Phase 3
46 Podophyllotoxin Phase 3 518-28-5
47 Nutrients Phase 3
48 Hematinics Phase 3
49 Calcium, Dietary Phase 3
50 Anti-Infective Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 96)
# Name Status NCT ID Phase Drugs
1 Dose Intensive Chemotherapy for Children Less Than Ten Years of Age Newly-Diagnosed With Malignant Brain Tumors: A Pilot Study of Two Alternative Intensive Induction Chemotherapy Regimens, Followed by Consolidation With Myeloablative Chemotherapy (Thiotepa and Carboplatin, With or Without Etoposide) and Autologous Stem Cell Rescue [HEAD START III] Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
2 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 Unknown status NCT00179803 Phase 2, Phase 3
3 Systemic Chemotherapy, Second Look Surgery and Conformal Radiation Therapy Limited to the Posterior Fossa and Primary Site for Children &gt;/= to 8 Months and &lt;3 Years With Non-metastatic Medulloblastoma: A Children&Apos;s Oncology Group Phase III Study Completed NCT00006461 Phase 3 cisplatin;cyclophosphamide;vincristine sulfate;etoposide
4 NATIONAL WILMS TUMOR STUDY-5 -- THERAPEUTIC TRIAL AND BIOLOGY STUDY Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
5 National Wilms Tumor Study-5 -- Treatment of Relapsed Patients, A National Wilms Tumor Study Group Phase III Study Completed NCT00002610 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
6 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
7 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
8 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
9 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
10 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
11 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
12 Treatment of High Risk Renal Tumors: A Groupwide Phase II Study Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
13 A Phase I/IIA Dose-Escalating Trial of BCL-2 Antisense (G3139) Treatment for Patients With Androgen-Independent Prostate Cancer or Other Advanced Solid Tumor Malignancies Completed NCT00003103 Phase 1, Phase 2 docetaxel
14 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
15 Phase II Trial of the Immune Checkpoint Inhibitor Nivolumab in Patients With Select Rare CNS Cancers Recruiting NCT03173950 Phase 2 Nivolumab
16 Tazemetostat Rollover Study (TRuST): An Open-Label Rollover Study Recruiting NCT02875548 Phase 2 Tazemetostat
17 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Recruiting NCT02581384 Phase 1, Phase 2
18 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
19 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
20 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
21 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
22 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
23 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 Recruiting NCT03213665 Phase 2 Tazemetostat
24 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
25 NCI-COG Pediatric MATCH (Molecular Analysis For Therapy Choice)- Phase 2 Subprotocol of Ly3023414 in Patients With Solid Tumors Recruiting NCT03213678 Phase 2 Samotolisib
26 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) Screening Protocol Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;Samotolisib;Selumetinib Sulfate;Tazemetostat;Ulixertinib;Vemurafenib
27 A Phase II Study of Intraventricular Methotrexate With Systemic Topotecan and Cyclophosphamide in Children With Recurrent or Progressive Malignant Brain Tumors Active, not recruiting NCT02684071 Phase 2 Intra thecal methotrexate;topotecan;cyclophosphamide
28 Phase II Study of Intrathecal I-3F8 in Patients With GD2-Expressing Central Nervous System and Leptomeningeal Neoplasms Active, not recruiting NCT00445965 Phase 2
29 Dasatinib With Ifosfamide, Carboplatin, Etoposide: A Pediatric Phase I/II Trial Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
30 Risk-Adapted Therapy for Young Children With Embryonal Brain Tumors, Choroid Plexus Carcinoma, High Grade Glioma or Ependymoma Active, not recruiting NCT00602667 Phase 2 Induction Chemotherapy;Low-Risk Therapy;High-Risk Therapy;Intermediate-Risk Therapy
31 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of AG-120 (Ivosidenib) in Patients With Tumors Harboring IDH1 Mutations Not yet recruiting NCT04195555 Phase 2 Ivosidenib
32 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 Suspended NCT03698994 Phase 2 Ulixertinib
33 Phase I/II Study of Intra-arterial Melphalan Given With Intra-arterial Carboplatin, Osmotic Blood-Brain Barrier Disruption and Delayed Otoprotective Sodium Thiosulfate for Patients With Recurrent or Progressive CNS Embryonal or Germ Cell Tumors Suspended NCT00983398 Phase 1, Phase 2 Carboplatin;Mannitol;Melphalan;Sodium Thiosulfate
34 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)
35 Phase I Trial Of Escalating Oral Doses Of SCH 66336 In Pediatric Patients With Refractory Or Recurrent Brain Tumors Completed NCT00015899 Phase 1 lonafarnib
36 A Phase I Trial of CC-5013 (Lenalidomide) in Pediatric Patients With Recurrent or Refractory Primary CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
37 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
38 A Phase I Clinical Trial of AZD2171 in Children With Recurrent or Progressive Central Nervous System (CNS) Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
39 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
40 High Dose Carboplatin Combined With Oral VP-16 In The Treatment Of Pediatric CNS Malignancies Completed NCT00053118 Phase 1 carboplatin;etoposide
41 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
42 A Phase I Study of Temozolomide, Oral Irinotecan, and Vincristine for Children With Refractory Solid Tumors Completed NCT00138216 Phase 1 irinotecan hydrochloride;temozolomide;vincristine sulfate
43 A Pilot Study of Intensive Chemotherapy With Peripheral Stem Cell Support for Infants With Malignant Brain Tumors Completed NCT00003141 Phase 1 carboplatin;cisplatin;cyclophosphamide;etoposide;thiotepa;vincristine sulfate
44 A Phase I Trial and Pharmacokinetic Study of Talabostat (PT-100, Val-Boro-Pro) in Combination With Temozolomide or Carboplatin in Pediatric Patients With Relapsed or Refractory Solid Tumors Including Brain Tumors Completed NCT00303940 Phase 1 carboplatin;talabostat mesylate;temozolomide
45 TREATMENT OF CHILDREN AND YOUNG ADULTS WITH RECURRENT/REFRACTORY SOLID TUMORS WITH HIGH DOSE ETOPOSIDE AND CARBOPLATIN PLUS ESCALATING DOSE CYCLOPHOSPHAMIDE, FOLLOWED BY HEMATOPOIETIC RESCUE USING AUTOLOGOUS CD34+ SELECTED BLOOD STEM CELLS: A PILOT STUDY Completed NCT00007813 Phase 1 carboplatin;cyclophosphamide;etoposide
46 Phase I Pharmacokinetic Trial of Thalidomide and Docetaxel: A Regimen Based on Anti-Angiogenic Therapeutic Principles Completed NCT00049296 Phase 1 docetaxel;thalidomide
47 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
48 Phase I Study Of Intrathecal Radioimmunotherapy Using I-8H9 For Central Nervous System/Leptomeningeal Neoplasms Recruiting NCT00089245 Phase 1
49 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
50 A Phase 1, Open-Label, Dose Escalation Study of CLR 131 in Children and Adolescents With Select Solid Tumors, Lymphoma, and Malignant Brain Tumors Recruiting NCT03478462 Phase 1 CLR 131

Search NIH Clinical Center for Rhabdoid Cancer

Cochrane evidence based reviews: rhabdoid tumor

Genetic Tests for Rhabdoid Cancer

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
Brain, Kidney, Liver, T Cells, Heart, Lung, Skin

Publications for Rhabdoid Cancer

Articles related to Rhabdoid Cancer:

(show top 50) (show all 1294)
# Title Authors PMID Year
1
Rhabdoid Tumor Predisposition Syndrome 61 6
29215836 2017
2
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 61 6
20137775 2010
3
Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. 61 6
10739763 2000
4
Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. 61 6
10521299 1999
5
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
6
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 6
24658002 2014
7
Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again. 6
23775540 2013
8
Small cell carcinoma of the ovary of hypercalcemic type: a case report. 6
22424359 2012
9
Familial small cell carcinoma of the ovary. 6
19621450 2009
10
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. 6
19124645 2009
11
Immature teratomas of different origin carried by a pregnant mother and her fetus. 6
8269278 1993
12
Paediatric ganciclovir dosing in extracorporeal membrane oxygenation: Is standard dosing good enough? 61
31545518 2020
13
Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults. 61
31732806 2020
14
Disseminated Congenital Malignant Rhabdoid Tumor Misdiagnosed as Multiple Congenital Hemangiomas. 61
31415283 2020
15
Laser interstitial thermal therapy for pediatric atypical teratoid/rhabdoid tumor: case report. 61
31896085 2020
16
Targeting MEK/MELK in atypical teratoid rhabdoid tumor: a treatment approach aimed at exploiting blood-brain barrier deficiencies. 61
31711169 2020
17
Predicting dysphagia in children undergoing surgery for posterior fossa tumors. 61
31897637 2020
18
Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort. 61
31571386 2020
19
SWI/SNF complex heterogeneity relates with polyphenotypic differentiation, prognosis and immune response in rhabdoid tumors. 61
31912158 2020
20
SMARCB1 (INI1)-deficient thyroid carcinoma: A novel entity expanding the spectrum of tumors with INI1 loss. 61
31982181 2020
21
Trimodality therapy for atypical teratoid/rhabdoid tumor is associated with improved overall survival: A surveillance, epidemiology, and end results analysis. 61
31464041 2019
22
Malignant Rhabdoid Tumor, an Aggressive Tumor Often Misclassified as Small Cell Variant of Hepatoblastoma. 61
31835848 2019
23
Novel therapy for pediatric and adolescent kidney cancer. 61
31811552 2019
24
Renal Medullary Carcinoma. 61
30855171 2019
25
Tandem high-dose chemotherapy with topotecan-thiotepa-carboplatin and melphalan-etoposide-carboplatin regimens for pediatric high-risk brain tumors. 61
31352632 2019
26
A phase I study of sirolimus in combination with metronomic therapy (CHOAnome) in children with recurrent or refractory solid and brain tumors. 61
31876107 2019
27
Exceptionally rapid response to pembrolizumab in a SMARCA4-deficient thoracic sarcoma overexpressing PD-L1: A case report. 61
31617320 2019
28
Lessons learned from the developmental origins of childhood renal cancer. 61
31738020 2019
29
INI1 negative sarcoma diagnosed as malignant rhabdoid tumor presenting as hydrops fetalis metastatic to the placenta: a case report and review of the literature on congenital sarcomas. 61
31718365 2019
30
In Vitro Investigation Demonstrates IGFR/VEGFR Receptor Cross Talk and Potential of Combined Inhibition in Pediatric Central Nervous System Atypical Teratoid Rhabdoid Tumors. 61
31713485 2019
31
Late-onset Hemorrhagic Disease of a Newborn Mimicjing an Atypical Teratoid/Rhabdoid Tumor. 61
31857566 2019
32
Isolated Pure Malignant Rhabdoid Tumor (MRT) of the Bladder: Case Report and Lessons Learned. 61
31733273 2019
33
Adult Atypical Teratoid/Rhabdoid Tumor in the Pineal Region: Case Report and Literature Review. 61
31759153 2019
34
Primary malignant epithelioid and rhabdoid tumor of bone harboring ZNF532-NUTM1 fusion: the expanding NUT cancer family. 61
31334571 2019
35
Identification and Analyses of Extra-Cranial and Cranial Rhabdoid Tumor Molecular Subgroups Reveal Tumors with Cytotoxic T Cell Infiltration. 61
31708418 2019
36
Exclusive Endoscopic Occipital Transtentorial Approach for Pineal Region Tumors. 61
31421299 2019
37
Neoadjuvant chemotherapy for atypical teratoid rhabdoid tumors (AT/RTs). 61
31745641 2019
38
Unusual Presentation of a Rare Tumor: Histiocytic Sarcoma Presenting as a Finger Growth. 61
31890359 2019
39
Twenty children with non-Wilms renal tumors from a reference center in Central Anatolia, Turkey. 61
31655501 2019
40
G-tract RNA removes Polycomb repressive complex 2 from genes. 61
31548724 2019
41
Application of SPME supported by ionic liquids for the determination of biogenic amines by MEKC in clinical practice. 61
31112850 2019
42
[SCCOHT/ovarian rhabdoid tumor: A case report]. 61
30928254 2019
43
A case of malignant rhabdoid tumor mimicking yolk sac tumor. 61
31034722 2019
44
Texture Analysis to Differentiate Malignant Renal Tumors in Children Using Gray-Scale Ultrasonography Images. 61
31076232 2019
45
Germline Genetics and Childhood Cancer: Emerging Cancer Predisposition Syndromes and Psychosocial Impacts. 61
31414239 2019
46
Molecular pathology of tumors of the central nervous system. 61
31124566 2019
47
Co-existent Rhabdoid Tumor of The Kidney and Brain in a Male Infant: A Rare Case. 61
31632875 2019
48
Loss of BRG1 (SMARCA4) Immunoexpression in a Pediatric Non-Central Nervous System Tumor Cohort. 61
31403913 2019
49
Pediatric primary spinal atypical teratoid rhabdoid tumor: a case series and review of the literature. 61
31299639 2019
50
Malignant rhabdoid tumor of the musk gland and systemic T-cell lymphoma in a masked palm civet (Paguma larvata). 61
31092741 2019

Variations for Rhabdoid Cancer

ClinVar genetic disease variations for Rhabdoid Cancer:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMARCB1 NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)SNV Conflicting interpretations of pathogenicity 340914 rs752910574 22:24159051-24159051 22:23816864-23816864
2 SMARCB1 NM_003073.5(SMARCB1):c.*12_*14dupduplication Uncertain significance 340916 rs779825754 22:24176376-24176377 22:23834189-23834190
3 SMARCB1 NM_003073.5(SMARCB1):c.*113C>TSNV Uncertain significance 340920 rs886057286 22:24176480-24176480 22:23834293-23834293
4 SMARCB1 NM_003073.5(SMARCB1):c.-149C>TSNV Uncertain significance 340906 rs886057282 22:24129208-24129208 22:23787021-23787021
5 SMARCB1 NM_003073.5(SMARCB1):c.-17C>TSNV Uncertain significance 340911 rs372777519 22:24129340-24129340 22:23787153-23787153
6 SMARCB1 NM_003073.5(SMARCB1):c.987-4G>CSNV Uncertain significance 340915 rs745773662 22:24175755-24175755 22:23833568-23833568
7 SMARCB1 NM_003073.5(SMARCB1):c.*279G>ASNV Uncertain significance 340921 rs886057287 22:24176646-24176646 22:23834459-23834459
8 SMARCB1 NM_003073.5(SMARCB1):c.-107A>GSNV Uncertain significance 340910 rs886057284 22:24129250-24129250 22:23787063-23787063
9 SMARCB1 NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)SNV Uncertain significance 340912 rs762962010 22:24145588-24145588 22:23803401-23803401
10 SMARCB1 NM_003073.5(SMARCB1):c.-157G>ASNV Uncertain significance 340905 rs886057281 22:24129200-24129200 22:23787013-23787013
11 SMARCB1 NM_003073.5(SMARCB1):c.-148T>CSNV Uncertain significance 340907 rs886057283 22:24129209-24129209 22:23787022-23787022
12 SMARCB1 NM_003073.5(SMARCB1):c.*293C>TSNV Likely benign 340922 rs754865420 22:24176660-24176660 22:23834473-23834473
13 SMARCB1 NM_003073.5(SMARCB1):c.-115C>TSNV Likely benign 340909 rs551328283 22:24129242-24129242 22:23787055-23787055
14 SMARCB1 NM_003073.5(SMARCB1):c.*15C>ASNV Likely benign 340917 rs369400289 22:24176382-24176382 22:23834195-23834195
15 SMARCB1 NM_003073.5(SMARCB1):c.628+13C>TSNV Likely benign 340913 rs184021903 22:24145622-24145622 22:23803435-23803435
16 SMARCB1 NM_003073.5(SMARCB1):c.*17C>TSNV Likely benign 340918 rs372348692 22:24176384-24176384 22:23834197-23834197
17 SMARCB1 NM_003073.5(SMARCB1):c.362+7C>TSNV Benign/Likely benign 239483 rs34746244 22:24135882-24135882 22:23793695-23793695
18 SMARCB1 NM_003073.5(SMARCB1):c.897G>A (p.Ser299=)SNV Benign 126368 rs2229354 22:24167513-24167513 22:23825326-23825326
19 SMARCB1 NM_003073.5(SMARCB1):c.-117C>TSNV Benign 340908 rs11090285 22:24129240-24129240 22:23787053-23787053
20 SMARCB1 NM_003073.5(SMARCB1):c.*116dupduplication Benign 340919 rs397897183 22:24176480-24176481 22:23834293-23834294

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 COSM87903333 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 6
2 COSM87975568 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 6
3 COSM93992510 SRC soft tissue,lung,sarcoma,NS c.205T>G p.S69A 20:37384358-37384358 6
4 COSM90104450 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.445C>T p.R149* 22:23801053-23801053 6
5 COSM90104345 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.118C>T p.R40* 22:23791780-23791780 6
6 COSM90105744 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.673G>T p.E225* 22:23816787-23816787 6
7 COSM90106422 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.157C>T p.R53* 22:23791819-23791819 6
8 COSM90106002 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.870G>A p.W290* 22:23825272-23825272 6
9 COSM90111259 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.398T>G p.L133* 22:23801006-23801006 6
10 COSM90105565 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.656-2A>G p.? 22:23816768-23816768 6
11 COSM90108380 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.142C>T p.P48S 22:23791804-23791804 6
12 COSM90106652 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.141C>A p.Y47* 22:23791803-23791803 6
13 COSM90113023 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.869G>A p.W290* 22:23825271-23825271 6
14 COSM90109851 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.644G>A p.W215* 22:23803411-23803411 6
15 COSM90113916 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.656-1G>A p.? 22:23816769-23816769 6
16 COSM90106514 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.988T>A p.W330R 22:23825390-23825390 6
17 COSM90113658 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.658A>T p.K220* 22:23816772-23816772 6
18 COSM90105856 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.645G>A p.W215* 22:23803412-23803412 6
19 COSM90105298 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.865G>T p.E289* 22:23825267-23825267 6
20 COSM90113269 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.820A>T p.K274* 22:23816934-23816934 6
21 COSM90105543 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.754C>T p.Q252* 22:23816868-23816868 6
22 COSM90108457 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.528-1G>C p.? 22:23803294-23803294 6
23 COSM90108882 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.878C>T p.S293L 22:23825280-23825280 6
24 COSM90109941 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.716C>T p.P239L 22:23816830-23816830 6
25 COSM90105551 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.146C>A p.S49* 22:23791808-23791808 6
26 COSM90110496 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.943G>T p.E315* 22:23825345-23825345 6
27 COSM90107650 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.805C>T p.Q269* 22:23816919-23816919 6
28 COSM90105069 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.544C>T p.P182S 22:23803311-23803311 6
29 COSM89651412 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 6
30 COSM89668431 SMARCA4 soft tissue,striated muscle,rhabdoid tumour,NS c.2438+1G>T p.? 19:11013113-11013113 6
31 COSM89629521 SF3B1 soft tissue,liver,other,neoplasm c.2014G>T p.A672S 2:197402619-197402619 6
32 COSM93451505 RAC1 soft tissue,lung,sarcoma,NS c.533C>T p.A178V 7:6402343-6402343 6
33 COSM101931022 PTPRD soft tissue,lung,sarcoma,NS c.4160C>T p.A1387V 9:8404587-8404587 6
34 COSM90842465 PTCH1 soft tissue,lung,sarcoma,NS c.2921T>G p.F974C 9:95458260-95458260 6
35 COSM87210160 PIK3CA soft tissue,lung,sarcoma,NS c.1036G>T p.V346L 3:179203766-179203766 6
36 COSM101265776 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.469G>A p.A157T 3:52662192-52662192 6
37 COSM101270110 PBRM1 soft tissue,lung,sarcoma,NS c.2834G>A p.R945H 3:52589201-52589201 6
38 COSM101253479 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.1381C>T p.R461C 3:52628956-52628956 6
39 COSM101265782 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.397G>A p.E133K 3:52662264-52662264 6
40 COSM98770048 PAK5 soft tissue,lung,sarcoma,NS c.41C>A p.P14Q 20:9644288-9644288 6
41 COSM97107943 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 6
42 COSM97107359 NRAS central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.182A>G p.Q61R 1:114713908-114713908 6
43 COSM89046819 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 6
44 COSM87508264 NCOR1 soft tissue,liver,other,neoplasm c.3838G>T p.G1280W 17:16072202-16072202 6
45 COSM85779643 MSH6 soft tissue,liver,other,neoplasm c.3215G>A p.G1072D 2:47803462-47803462 6
46 COSM85400395 MAP2K2 soft tissue,liver,other,neoplasm c.979A>G p.N327D 19:4097284-4097284 6
47 COSM87804075 KRAS soft tissue,lung,sarcoma,NS c.34G>T p.G12C 12:25245351-25245351 6
48 COSM87804055 KRAS soft tissue,lung,sarcoma,NS c.35G>T p.G12V 12:25245350-25245350 6
49 COSM103033757 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 6
50 COSM103033796 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 6

Expression for Rhabdoid Cancer

Search GEO for disease gene expression data for Rhabdoid Cancer.

Pathways for Rhabdoid Cancer

Pathways related to Rhabdoid Cancer according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.64 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
2
Show member pathways
13.39 TP53 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
3
Show member pathways
12.81 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
4
Show member pathways
12.4 TP53 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
5
Show member pathways
12.15 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
6 11.81 SS18 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
7
Show member pathways
11.72 TP53 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
8
Show member pathways
11.7 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
9 11.67 TP53 SMARCC2 SMARCC1 SMARCA4
10 11.55 TP53 SMARCE1 SMARCA2 ARID1A
11 11.37 SMARCE1 SMARCC1 SMARCA2

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 10.37 TP53 SS18 SMARCE1 SMARCC2 SMARCC1 SMARCB1
2 nucleoplasm GO:0005654 10.21 TP53 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
3 nuclear chromatin GO:0000790 10.1 TP53 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
4 protein-containing complex GO:0032991 9.93 TP53 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
5 nBAF complex GO:0071565 9.76 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
6 brahma complex GO:0035060 9.58 SMARCB1 ARID1B ARID1A
7 npBAF complex GO:0071564 9.56 SS18 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
8 XY body GO:0001741 9.48 SMARCC1 SMARCB1
9 SWI/SNF superfamily-type complex GO:0070603 9.43 ARID1B ARID1A
10 SWI/SNF complex GO:0016514 9.28 SS18 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 TP53 SS18 SMARCC1 SMARCB1 SMARCA4 SMARCA2
2 regulation of transcription by RNA polymerase II GO:0006357 10.06 TP53 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.03 TP53 SMARCA4 SMARCA2 PAF1 EZH2 ARID1A
4 positive regulation of transcription, DNA-templated GO:0045893 10.02 TP53 SS18 SMARCC2 SMARCC1 SMARCA4 SMARCA2
5 nervous system development GO:0007399 10.01 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
6 negative regulation of transcription, DNA-templated GO:0045892 10 TP53 SMARCE1 SMARCC2 SMARCA4 SMARCA2 EZH2
7 negative regulation of cell proliferation GO:0008285 9.98 TP53 SMARCB1 SMARCA2 PBRM1 MYOG BRD7
8 ATP-dependent chromatin remodeling GO:0043044 9.86 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
9 nucleosome disassembly GO:0006337 9.76 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PBRM1
10 stem cell population maintenance GO:0019827 9.7 PAF1 KDM4C ARID1A
11 chromatin remodeling GO:0006338 9.65 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
12 DNA integration GO:0015074 9.58 SMARCB1 BANF1
13 positive regulation of cell cycle G1/S phase transition GO:1902808 9.58 PAF1 EZH2
14 chromatin-mediated maintenance of transcription GO:0048096 9.57 ARID1B ARID1A
15 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.55 SMARCB1 SMARCA4
16 RNA polymerase I preinitiation complex assembly GO:0001188 9.54 SMARCB1 SMARCA4
17 negative regulation of histone H3-K9 trimethylation GO:1900113 9.51 SMARCB1 KDM4C
18 positive regulation of glucose mediated signaling pathway GO:1902661 9.49 SMARCB1 SMARCA4
19 chromatin organization GO:0006325 9.4 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PBRM1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.43 TP53 SS18 SMARCE1 SMARCC2 SMARCC1 SMARCB1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.97 TP53 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
3 transcription regulatory region DNA binding GO:0044212 9.84 TP53 SMARCA2 EZH2 BRD7
4 histone binding GO:0042393 9.83 SMARCC2 SMARCC1 SMARCA4 SMARCA2 BRD7
5 DNA binding GO:0003677 9.83 TP53 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
6 chromatin binding GO:0003682 9.81 TP53 SMARCE1 SMARCC2 SMARCC1 SMARCA2 PBRM1
7 protein N-terminus binding GO:0047485 9.8 TP53 SMARCE1 SMARCC1 SMARCA4 BANF1
8 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.8 TP53 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
9 p53 binding GO:0002039 9.76 TP53 SMARCB1 SMARCA4 BRD7
10 nucleosomal DNA binding GO:0031492 9.65 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
11 Tat protein binding GO:0030957 9.52 SMARCB1 SMARCA4
12 hydrolase activity, acting on acid anhydrides GO:0016817 9.51 SMARCA4 SMARCA2
13 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.49 SMARCB1 SMARCA4
14 transcription coactivator activity GO:0003713 9.32 SS18 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4

Sources for Rhabdoid Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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