MCID: RHB001
MIFTS: 50

Rhabdoid Cancer malady

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

Aliases & Classifications for Rhabdoid Cancer

Aliases & Descriptions for Rhabdoid Cancer:

Name: Rhabdoid Cancer 12 14
Rhabdoid Tumor 12 50 56 29 52 42 69
Rhabdoid Tumor Predisposition Syndrome 2 50 69
Rhabdoid Tumor Predisposition Syndrome 1 50 69
Malignant Rhabdoid Tumor 50 56
Rhabdoid Sarcoma 12 50
Brain Tumor, Posterior Fossa, of Infancy, Familial 50
Atypical Teratoid Rhabdoid Tumor 50
Atypical Teratoid/rhabdoid Tumor 69
Malignant Rhabdoid Tumour 12

Characteristics:

Orphanet epidemiological data:

56
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 42 D018335
NCIt 47 C3808
SNOMED-CT 64 189812005 83118000
Orphanet 56 ORPHA69077
ICD10 via Orphanet 34 C49.9
MESH via Orphanet 43 D018335
UMLS via Orphanet 70 C0206743
UMLS 69 C0206743

Summaries for Rhabdoid Cancer

NIH Rare Diseases : 50 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, abdomen mass, peripheral nerve palsy). in about 90% of the cases it is caused by a mutation in the smarcb1 gene, which is a tumor suppressor gene and in rare cases by a mutation in the smarca4 gene. no standard care exists for rt although there are a lot of 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 considered now identical or closely related entities. also, 10-15% of patients with malignant rhabdoid tumors have brain tumors. last updated: 4/24/2015

MalaCards based summary : Rhabdoid Cancer, also known as rhabdoid tumor, is related to atypical teratoid rhabdoid tumor and rhabdoid tumor predisposition syndrome 2, and has symptoms including fever, headache and abdominal pain. 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 Cytoskeletal Signaling and Immune response Function of MEF2 in T lymphocytes. The drugs Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and brain, and related phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and cardiovascular system

Disease Ontology : 12 A childhood kidney neoplasm that is located in the in the kidney as well as other locations outside the kidneys such as the liver, muscle, heart, lung, soft tissues, skin, the central nervous system.

Wikipedia : 71 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 164)
id Related Disease Score Top Affiliating Genes
1 atypical teratoid rhabdoid tumor 12.7
2 rhabdoid tumor predisposition syndrome 2 12.5
3 rhabdoid tumors, somatic 11.9
4 kidney rhabdoid cancer 11.9
5 heel spur 10.3 PTPRC SMARCB1
6 conjunctival disease 10.3 MYOD1 WT1
7 renal pelvis adenocarcinoma 10.3 SYP WT1
8 hinman syndrome 10.3 PTPRC VIM
9 cortical blindness 10.2 PTPRC VIM
10 developmental coordination disorder 10.2 PTPRC VIM
11 jejunal neuroendocrine tumor 10.2 SYP VIM
12 gliofibroma 10.2 SYP WT1
13 ribbing disease 10.2 PTPRC VIM
14 exotropia 10.2 MUC1 WT1
15 skeletal-extraskeletal angiomatosis 10.2 MUC1 SYP
16 trombiculiasis 10.2 MUC1 SMARCB1
17 plexopathy 10.2 PTPRC SMARCB1 WT1
18 prolactin producing pituitary tumor 10.2 MUC1 SYP
19 ovarian large-cell neuroendocrine carcinoma 10.2 SMARCB1 SYP
20 adult central nervous system primitive neuroectodermal neoplasm 10.2 SYP VIM
21 progressive multifocal leukoencephalopathy 10.2 VIM WT1
22 mast-cell sarcoma 10.2 SMARCB1 SYP
23 nephrogenic adenoma of urinary bladder 10.2 SYP VIM
24 chiasmal syndrome 10.2 ACTC1 PTPRC
25 colorectal cancer 1 10.2 SMARCB1 SYP WT1
26 olfactory neuroblastoma 10.2 SMARCB1 SYP
27 hormone producing pituitary cancer 10.2 MYOD1 SMARCB1 WT1
28 blood group incompatibility 10.2 IGF2 SYP
29 diffuse glomerulonephritis 10.2 IGF2 SMARCB1 WT1
30 immunodeficiency due to a classical component pathway complement deficiency 10.2 MUC1 VIM
31 hemangioma of liver 10.2 ACTC1 PTPRC
32 lymphomatoid papulosis 10.2 ACTC1 VIM
33 chest wall parachordoma 10.2 ACTC1 VIM
34 pancreatic cancer 10.2 IGF2 SMARCB1 SYP
35 myxopapillary ependymoma 10.2 SMARCB1 SYP VIM
36 isolated anterior cervical hypertrichosis 10.2 ACTC1 VIM
37 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma 10.2 MUC1 VIM
38 congenital sucrase-isomaltase deficiency with starch and lactose intolerance 10.2 MUC1 PTPRC
39 breast mucoepidermoid carcinoma 10.2 SYP WT1
40 endometrial stromal sarcoma 10.2 MUC1 VIM
41 uterine hypoplasia 10.2 IGF2 VIM
42 subglottis verrucous carcinoma 10.2 MUC1 VIM
43 bladder adenocarcinoma 10.2 MUC1 VIM
44 clear cell ependymoma 10.2 MUC1 VIM
45 corneal intraepithelial neoplasm 10.2 MUC1 SYP WT1
46 sternum cancer 10.1 MUC1 VIM
47 mucinous cystadenocarcinoma 10.1 ACTC1 MUC1
48 rectum leiomyoma 10.1 PTPRC SYP
49 avian influenza 10.1 MUC1 VIM WT1
50 pericardial mesothelioma 10.1 MUC1 SMARCB1 VIM

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:

56 32 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 56 32 Frequent (79-30%) HP:0001945
2 headache 56 32 Frequent (79-30%) HP:0002315
3 abdominal pain 56 32 Frequent (79-30%) HP:0002027
4 nausea and vomiting 56 32 Frequent (79-30%) HP:0002017
5 hemiplegia 56 32 Occasional (29-5%) HP:0002301
6 hypertension 56 32 Frequent (79-30%) HP:0000822
7 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
8 cranial nerve paralysis 56 32 Frequent (79-30%) HP:0006824
9 subcutaneous nodule 56 32 Frequent (79-30%) HP:0001482
10 anemia 56 32 Occasional (29-5%) HP:0001903
11 irritability 56 32 Frequent (79-30%) HP:0000737
12 weight loss 56 32 Frequent (79-30%) HP:0001824
13 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
14 hematuria 56 32 Frequent (79-30%) HP:0000790
15 neoplasm of the central nervous system 56 32 Frequent (79-30%) HP:0100006
16 sarcoma 56 32 Frequent (79-30%) HP:0100242
17 hypercalcemia 56 32 Occasional (29-5%) HP:0003072
18 internal hemorrhage 56 32 Frequent (79-30%) HP:0011029
19 cerebral palsy 56 32 Frequent (79-30%) HP:0100021
20 lymphadenopathy 56 32 Frequent (79-30%) HP:0002716
21 neoplasm of the liver 56 32 Frequent (79-30%) HP:0002896
22 renal neoplasm 56 32 Frequent (79-30%) HP:0009726
23 oculomotor nerve palsy 56 32 Frequent (79-30%) HP:0012246
24 poor appetite 56 32 Frequent (79-30%) HP:0004396

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.92 IGF1R MUC1 PTPRC VIM

MGI Mouse Phenotypes related to Rhabdoid Cancer:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 IGF2 MYOD1 SMARCB1 STIM1 VIM WT1
2 cellular MP:0005384 10.02 STIM1 VIM WT1 ACTC1 DES IGF1R
3 homeostasis/metabolism MP:0005376 10.02 ACTC1 DES IGF1R IGF2 MYOD1 PTPRC
4 mortality/aging MP:0010768 9.96 ACTC1 DES IGF1R IGF2 MYOD1 PTPRC
5 muscle MP:0005369 9.76 ACTC1 DES IGF1R IGF2 MYOD1 SMARCB1
6 neoplasm MP:0002006 9.35 SMARCB1 WT1 IGF1R MYOD1 PTPRC
7 respiratory system MP:0005388 9.17 IGF1R IGF2 MYOD1 PTPRC STIM1 VIM

Drugs & Therapeutics for Rhabdoid Cancer

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

(show top 50) (show all 154)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2, Phase 3, Phase 1 41575-94-4 10339178 498142 38904
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3, Phase 1 50-18-0, 6055-19-2 2907
3
Etoposide Approved Phase 2, Phase 3, Phase 1, Early Phase 1 33419-42-0 36462
4
Melphalan Approved Phase 2, Phase 3,Phase 1 148-82-3 4053 460612
5
Thiotepa Approved Phase 2, Phase 3, Phase 1 52-24-4 5453
6
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
7
Lenograstim Approved Phase 3,Phase 2,Phase 1 135968-09-1
8
Methotrexate Approved Phase 3,Phase 2,Phase 1,Early Phase 1 1959-05-2, 59-05-2 126941
9
Temozolomide Approved, Investigational Phase 3,Phase 2,Phase 1 85622-93-1 5394
10
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
11
Dactinomycin Approved Phase 3,Phase 2 50-76-0 2019 457193
12
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
13
Sulfamethoxazole Approved Phase 3 723-46-6 5329
14
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
15
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
16
Levoleucovorin Approved Phase 3,Phase 2,Early Phase 1 68538-85-2
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
18
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Phase 1,Early Phase 1 58-05-9 54575, 6560146 143
19
Doxil Approved June 1999 Phase 3,Phase 2 31703
20 Etoposide phosphate Phase 2, Phase 3, Phase 1, Early Phase 1
21 Alkylating Agents Phase 3,Phase 2,Phase 1
22 Antimetabolites Phase 3,Phase 2,Phase 1,Early Phase 1
23 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Early Phase 1
24 Antimitotic Agents Phase 3,Phase 2,Phase 1
25 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
26 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Early Phase 1
27 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
28 Dermatologic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
29 Folic Acid Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
30 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1
31 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
32 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
33 Vitamin B Complex Phase 3,Phase 2,Phase 1,Early Phase 1
34 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1
35 Liver Extracts Phase 3,Phase 1,Phase 2
36 Protective Agents Phase 3,Phase 2,Phase 1
37 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
38 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
39 Anti-Infective Agents Phase 3,Phase 2,Phase 1
40 Adjuvants, Anesthesia Phase 3
41 Analgesics Phase 3
42 Analgesics, Opioid Phase 3
43 Anesthetics Phase 3
44 Anesthetics, General Phase 3
45 Anesthetics, Intravenous Phase 3
46 Central Nervous System Depressants Phase 3
47 Narcotics Phase 3
48 pancreatic polypeptide Phase 3
49 Peripheral Nervous System Agents Phase 3,Phase 1
50 Antidotes Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 79)
id Name Status NCT ID Phase
1 Stem Cell Transplant for High Risk Central Nervous System (CNS) Tumors Unknown status NCT00179803 Phase 2, Phase 3
2 Combination Chemotherapy With or Without Etoposide Followed By an Autologous Stem Cell Transplant in Treating Young Patients With Previously Untreated Malignant Brain Tumors Unknown status NCT00392886 Phase 3
3 Chemotherapy With or Without Surgery, Radiation Therapy, or Stem Cell Transplantation in Treating Young Patients With Kidney Tumors Completed NCT00002610 Phase 3
4 Combination Chemotherapy Followed by Second-Look Surgery and Radiation Therapy in Treating Children With Nonmetastatic Medulloblastoma or Primitive Neuroectodermal Tumor Completed NCT00006461 Phase 3
5 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
6 Combination Chemotherapy Alone or With Radiation Therapy in Treating Children With Kidney Cancer Completed NCT00002611 Phase 3
7 Combination Chemotherapy, Radiation Therapy, and an Autologous Peripheral Blood Stem Cell Transplant in Treating Young Patients With Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System Active, not recruiting NCT00653068 Phase 3
8 Treatment of Patients With Newly Diagnosed Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Active, not recruiting NCT00085202 Phase 3
9 Oxaliplatin in Treating Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Completed NCT00047177 Phase 2
10 Chemotherapy Combined With Radiation Therapy for Newly Diagnosed CNS AT/RT Completed NCT00084838 Phase 2
11 Combination Chemotherapy, Radiation Therapy, and/or Surgery in Treating Patients With High-Risk Kidney Tumors Completed NCT00335556 Phase 2
12 Chemotherapy in Treating Patients With Solid Tumors Completed NCT00003103 Phase 1, Phase 2
13 Phase 2 Study of Alisertib Therapy for Rhabdoid Tumors Recruiting NCT02114229 Phase 2
14 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
15 Phase II Study of Intraventricular Methotrexate in Children With Recurrent or Progressive Malignant Brain Tumors Recruiting NCT02684071 Phase 2
16 Tazemetostat Rollover Study (TRuST): An Open-Label Rollover Study Recruiting NCT02875548 Phase 2
17 Melphalan, Carboplatin, Mannitol, and Sodium Thiosulfate in Treating Patients With Recurrent or Progressive CNS Embryonal or Germ Cell Tumors Recruiting NCT00983398 Phase 1, Phase 2
18 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Immunogenicity, and Preliminary Efficacy of Atezolizumab (Anti-Programmed Death-Ligand 1 [PD-L1] Antibody) in Pediatric and Young Adult Participants With Solid Tumors Recruiting NCT02541604 Phase 1, Phase 2
19 Trabectedin for Recurrent Grade II/III Meningioma Recruiting NCT02234050 Phase 2
20 Dasatinib, Ifosfamide, Carboplatin, and Etoposide in Treating Young Patients With Metastatic or Recurrent Malignant Solid Tumors Active, not recruiting NCT00788125 Phase 1, Phase 2
21 Risk-Adapted Therapy for Young Children With Embryonal Brain Tumors, Choroid Plexus Carcinoma, High Grade Glioma or Ependymoma Active, not recruiting NCT00602667 Phase 2
22 Crizotinib in Treating Young Patients With Relapsed or Refractory Solid Tumors or Anaplastic Large Cell Lymphoma Active, not recruiting NCT00939770 Phase 1, Phase 2
23 Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer Active, not recruiting NCT00445965 Phase 2
24 Alisertib in Treating Young Patients With Recurrent or Refractory Solid Tumors or Leukemia Active, not recruiting NCT01154816 Phase 2
25 Phase II Pediatric Study With Dabrafenib in HGG Patients Not yet recruiting NCT02684058 Phase 2
26 Antineoplaston Therapy in Treating Children With Rhabdoid Tumor of the Central Nervous System Terminated NCT00003469 Phase 2
27 Peripheral Stem Cell Transplantation Plus Chemotherapy in Treating Patients With Malignant Solid Tumors Unknown status NCT00007813 Phase 1
28 Safety Study of Seneca Valley Virus in Patients With Solid Tumors With Neuroendocrine Features Unknown status NCT00314925 Phase 1
29 Lenalidomide in Treating Young Patients With Recurrent, Progressive, or Refractory CNS Tumors Completed NCT00100880 Phase 1
30 ABT-888 and Temozolomide in Treating Young Patients With Recurrent or Refractory CNS Tumors Completed NCT00946335 Phase 1
31 AZD2171 in Treating Young Patients With Recurrent, Progressive, or Refractory Primary CNS Tumors Completed NCT00326664 Phase 1
32 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1
33 Vorinostat With or Without Isotretinoin in Treating Young Patients With Recurrent or Refractory Solid Tumors, Lymphoma, or Leukemia Completed NCT00217412 Phase 1
34 Thalidomide and Docetaxel in Treating Patients With Advanced Cancer Completed NCT00049296 Phase 1
35 SCH 66336 in Treating Children With Recurrent or Progressive Brain Tumors Completed NCT00015899 Phase 1
36 Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Infants With Malignant Brain or Spinal Cord Tumors Completed NCT00003141 Phase 1
37 Temozolomide, Vincristine, and Irinotecan in Treating Young Patients With Refractory Solid Tumors Completed NCT00138216 Phase 1
38 Chemotherapy and Stem Cell Transplantation in Treating Children With Central Nervous System Cancer Completed NCT00053118 Phase 1
39 Talabostat Combined With Temozolomide or Carboplatin in Treating Young Patients With Relapsed or Refractory Brain Tumors or Other Solid Tumors Completed NCT00303940 Phase 1
40 p28 in Treating Younger Patients With Recurrent or Progressive Central Nervous System Tumors Completed NCT01975116 Phase 1
41 Modified Measles Virus (MV-NIS) for Children and Young Adults With Recurrent Medulloblastoma or Recurrent ATRT Recruiting NCT02962167 Phase 1
42 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
43 Methotrexate Infusion Into Fourth Ventricle in Children With Recurrent Malignant Fourth Ventricular Brain Tumors Recruiting NCT02458339 Phase 1
44 Simvastatin With Topotecan and Cyclophosphamide in Relapsed and/or Refractory Pediatric Solid and CNS Tumors Recruiting NCT02390843 Phase 1
45 A Study of CD45RA+ Depleted Haploidentical Stem Cell Transplantation in Children With Relapsed or Refractory Solid Tumors and Lymphomas Recruiting NCT01625351 Phase 1
46 Abemaciclib in Children With DIPG or Recurrent/Refractory Solid Tumors Recruiting NCT02644460 Phase 1
47 Wild-Type Reovirus in Combination With Sargramostim in Treating Younger Patients With High-Grade Relapsed or Refractory Brain Tumors Recruiting NCT02444546 Phase 1
48 HSV G207 Alone or With a Single Radiation Dose in Children With Progressive or Recurrent Supratentorial Brain Tumors Recruiting NCT02457845 Phase 1
49 Radiolabeled Monoclonal Antibody Therapy in Treating Patients With Refractory, Recurrent, or Advanced CNS or Leptomeningeal Cancer Recruiting NCT00089245 Phase 1
50 Study of Safety and Efficacy in Patients With Malignant Rhabdoid Tumors (MRT) and Neuroblastoma Active, not recruiting NCT01747876 Phase 1

Search NIH Clinical Center for Rhabdoid Cancer

Cochrane evidence based reviews: rhabdoid tumor

Genetic Tests for Rhabdoid Cancer

Genetic tests related to Rhabdoid Cancer:

id Genetic test Affiliating Genes
1 Rhabdoid Tumor 29

Anatomical Context for Rhabdoid Cancer

MalaCards organs/tissues related to Rhabdoid Cancer:

39
Kidney, Liver, Brain, Lung, Heart, Skin

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

18
The In The Kidney As Well As Other Locations Outside The Kidneys Such As The Liver

Publications for Rhabdoid Cancer

Articles related to Rhabdoid Cancer:

id Title Authors Year
1
A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. ( 22797305 )
2012
2
Primary rhabdoid cancer of the ileum: a case report and review of the literature. ( 19369011 )
2010

Variations for Rhabdoid Cancer

ClinVar genetic disease variations for Rhabdoid Cancer:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 SMARCA4 NM_001128844.1(SMARCA4): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs267607070 GRCh37 Chromosome 19, 11143984: 11143984
2 SMARCB1 NM_003073.4(SMARCB1): c.591delG (p.Gln198Argfs) deletion Pathogenic rs587776678 GRCh37 Chromosome 22, 24145572: 24145572
3 SMARCB1 SMARCB1, IVS7DS, G-A, +1 single nucleotide variant Pathogenic
4 SMARCB1 NM_003073.4(SMARCB1): c.629-361_795+2103dup duplication Pathogenic GRCh38 Chromosome 22, 23816409: 23819039
5 SMARCA4 NM_003072.3(SMARCA4): c.3533G> A (p.Trp1178Ter) single nucleotide variant Pathogenic rs587777460 GRCh38 Chromosome 19, 11030880: 11030880
6 SMARCA4 NM_001128845.1(SMARCA4): c.4071+1G> A single nucleotide variant Pathogenic rs587777461 GRCh38 Chromosome 19, 11035133: 11035133
7 SMARCA4 NM_001128849.1(SMARCA4): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs587777462 GRCh37 Chromosome 19, 11097152: 11097152
8 SMARCA4 NM_001128845.1(SMARCA4): c.2617-3C> G single nucleotide variant Pathogenic rs587777463 GRCh38 Chromosome 19, 11021722: 11021722
9 SMARCA4 NM_001128849.1(SMARCA4): c.3239G> A (p.Gly1080Asp) single nucleotide variant Pathogenic rs587777464 GRCh38 Chromosome 19, 11027807: 11027807
10 SMARCA4 NM_001128849.1(SMARCA4): c.2922delC (p.Phe975Serfs) deletion Pathogenic rs797045980 GRCh38 Chromosome 19, 11023580: 11023580
11 SMARCA4 NM_001128849.1(SMARCA4): c.3480dupG (p.Leu1161Alafs) duplication Pathogenic rs797045982 GRCh37 Chromosome 19, 11141503: 11141503
12 SMARCA4 NM_001128849.1(SMARCA4): c.4763delT (p.Val1588Alafs) deletion Pathogenic rs797045987 GRCh37 Chromosome 19, 11170460: 11170460
13 SMARCA4 NM_001128849.1(SMARCA4): c.4339C> T (p.Arg1447Ter) single nucleotide variant Pathogenic rs878854224 GRCh37 Chromosome 19, 11152055: 11152055
14 SMARCB1 NM_003073.4(SMARCB1): c.*82C> T single nucleotide variant Pathogenic rs878854600 GRCh38 Chromosome 22, 23834262: 23834262
15 SMARCA4 NM_001128849.1(SMARCA4): c.662delC (p.Pro221Leufs) deletion Pathogenic rs1060502085 GRCh38 Chromosome 19, 10986495: 10986495
16 SMARCA4 NC_000019.10: g.(?_10984121)_(11062282_?)del deletion Pathogenic GRCh37 Chromosome 19, 11094797: 11172958
17 SMARCA4 NM_001128849.1(SMARCA4): c.4208delG (p.Ser1403Metfs) deletion Pathogenic rs1060502088 GRCh38 Chromosome 19, 11039495: 11039495
18 SMARCB1 NM_003073.4(SMARCB1): c.969_976delGAAGACCT (p.Lys324Argfs) deletion Pathogenic rs1060503017 GRCh38 Chromosome 22, 23825398: 23825405
19 SMARCB1 NM_003073.4(SMARCB1): c.118C> T (p.Arg40Ter) single nucleotide variant Pathogenic rs1060503015 GRCh38 Chromosome 22, 23791780: 23791780
20 SMARCB1 NM_003073.4(SMARCB1): c.152G> A (p.Trp51Ter) single nucleotide variant Pathogenic rs1060503016 GRCh38 Chromosome 22, 23791814: 23791814

Cosmic variations for Rhabdoid Cancer:

9 (show all 41)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM1002 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.118C>T p.R40* 13
2 COSM24595 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.157C>T p.R53* 13
3 COSM1085 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.629-1G>A p.? 13
4 COSM1055 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.793A>T p.K265* 13
5 COSM1053 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.146C>A p.S49* 13
6 COSM994 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.618G>A p.W206* 13
7 COSM29385 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.425T>G p.L142* 13
8 COSM1059 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.916G>T p.E306* 13
9 COSM84488 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 13
10 COSM584 NRAS central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.182A>G p.Q61R 13
11 COSM992 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.472C>T p.R158* 11
12 COSM1004 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.646G>T p.E216* 11
13 COSM53303 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.842G>A p.W281* 11
14 COSM1058 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.843G>A p.W281* 11
15 COSM991 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.141C>A p.Y47* 11
16 COSM1100 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.629-2A>G p.? 11
17 COSM1070 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.631A>T p.K211* 11
18 COSM1073 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.851C>T p.S284L 11
19 COSM1001 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.517C>T p.P173S 11
20 COSM996 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.727C>T p.Q243* 11
21 COSM990 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.778C>T p.Q260* 11
22 COSM4766060 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.961T>A p.W321R 11
23 COSM1072 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.142C>T p.P48S 11
24 COSM53298 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.501-1G>C p.? 11
25 COSM1075 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.617G>A p.W206* 11
26 COSM4766058 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.689C>T p.P230L 11
27 COSM1071 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.838G>T p.E280* 11
28 COSM1651766 SMARCA4 soft tissue,striated muscle,rhabdoid tumour,NS c.2438+1G>T p.? 11
29 COSM4766063 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.397G>A p.E133K 11
30 COSM3427747 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.1381C>T p.R461C 11
31 COSM4766064 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.469G>A p.A157T 11
32 COSM4169595 DICER1 soft tissue,kidney,sarcoma,NS c.5425G>A p.G1809R 7
33 COSM10667 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 6
34 COSM44190 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 6
35 COSM575 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 5
36 COSM520 KRAS soft tissue,lung,sarcoma,NS c.35G>T p.G12V 5
37 COSM28746 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 5
38 COSM28748 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 5
39 COSM28747 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 5
40 COSM28749 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 5
41 COSM28750 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 5

Expression for Rhabdoid Cancer

Search GEO for disease gene expression data for Rhabdoid Cancer.

Pathways for Rhabdoid Cancer

GO Terms for Rhabdoid Cancer

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

id Name GO ID Score Top Affiliating Genes
1 intermediate filament organization GO:0045109 9.26 DES VIM
2 myotube differentiation GO:0014902 9.16 MYOD1 STIM1
3 positive regulation of histone H4 acetylation GO:0090240 8.96 MUC1 SMARCB1
4 muscle filament sliding GO:0030049 8.8 ACTC1 DES VIM

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 DES IGF1R STIM1 SYP VIM

Sources for Rhabdoid Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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