MCID: RHB001
MIFTS: 60

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 76 53 59 29 55 6 44 73
Rhabdoid Tumor Predisposition Syndrome 1 53 73
Rhabdoid Tumor Predisposition Syndrome 2 53 73
Malignant Rhabdoid Tumor 53 59
Rhabdoid Sarcoma 12 53
Brain Tumor, Posterior Fossa, of Infancy, Familial 53
Atypical Teratoid Rhabdoid Tumor 53
Atypical Teratoid/rhabdoid Tumor 73
Malignant Rhabdoid Tumour 12

Characteristics:

Orphanet epidemiological data:

59
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 68 83118000
Orphanet 59 ORPHA69077
ICD10 via Orphanet 34 C49.9
MESH via Orphanet 45 D018335
UMLS via Orphanet 74 C0206743

Summaries for Rhabdoid Cancer

NIH Rare Diseases : 53 Rhabdoid tumor (RT) is an aggressive pediatric soft tissuesarcoma 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 rhabdoid tumor predisposition syndrome 1 and kidney rhabdoid cancer. 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 Gastric cancer and Transcriptional misregulation in cancer. Affiliated tissues include kidney, brain and liver, and related phenotypes are hypertension and nausea and vomiting

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 : 76 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 246)
# Related Disease Score Top Affiliating Genes
1 rhabdoid tumor predisposition syndrome 1 33.6 MYOD1 SMARCB1 SYP TP53 WT1
2 kidney rhabdoid cancer 33.1 ENO2 EWSR1 MB SMARCB1 WT1
3 medulloblastoma 32.1 ENO2 SMARCA4 SMARCB1 SYP TP53
4 wilms tumor 1 31.0 ENO2 EWSR1 MYOD1 SMARCB1 TP53 WT1
5 choroid plexus cancer 30.6 SMARCB1 TP53
6 tumor predisposition syndrome 30.5 SMARCA4 SMARCB1
7 pineal gland cancer 30.5 ENO2 SYP
8 pineocytoma 30.5 ENO2 SYP
9 pleomorphic xanthoastrocytoma 30.3 SMARCB1 SYP TP53
10 ganglioglioma 30.2 ENO2 SMARCB1 SYP TP53
11 neurilemmomatosis 30.0 PHF10 SMARCB1
12 cauda equina neoplasm 30.0 ENO2 EWSR1 SYP WT1
13 beckwith-wiedemann syndrome 30.0 MYOD1 TP53 WT1
14 uterine sarcoma 29.9 MB SMARCB1 WT1
15 connective tissue benign neoplasm 29.9 ENO2 SYP
16 hydrocephalus 29.8 ENO2 SYP TP53
17 ovarian small cell carcinoma 29.7 SMARCA4 SYP WT1
18 small cell carcinoma 29.7 ENO2 SMARCA4 SYP TP53
19 atypical teratoid rhabdoid tumor 29.7 SMARCA4 SMARCB1 SYP TP53
20 histiocytoma 29.5 EWSR1 MB MYOD1 TP53
21 pleuropulmonary blastoma 29.5 MB TP53
22 soft tissue sarcoma 29.5 EWSR1 TP53
23 rhabdomyosarcoma 29.3 ENO2 EWSR1 MB MYOD1 TP53
24 ewing sarcoma 29.2 BCOR ENO2 EWSR1 MYOD1 SYP TP53
25 rhabdoid tumor predisposition syndrome 2 12.8
26 striated muscle rhabdoid tumor 12.1
27 sarcoma 10.4
28 ewing's family of tumors 10.4
29 epithelioid sarcoma 10.4
30 pineoblastoma 10.3
31 spindle cell synovial sarcoma 10.3 MB SMARCB1
32 central nervous system sarcoma 10.3 SMARCA4 SMARCB1
33 chondroid chordoma 10.2 ENO2 SMARCB1
34 wilms tumor 6 10.2
35 proliferative fasciitis 10.2 MB SMARCB1
36 testicular granulosa cell tumor 10.2 SMARCA4 WT1
37 juvenile type testicular granulosa cell tumor 10.2 SMARCA4 WT1
38 dysgerminoma of ovary 10.2 ENO2 WT1
39 pericardium cancer 10.2 ENO2 MB
40 pericardial mesothelioma 10.2 ENO2 MB
41 large cell carcinoma with rhabdoid phenotype 10.2 ENO2 SMARCB1
42 melanotic medulloblastoma 10.2 ENO2 SMARCB1
43 nephrogenic adenofibroma 10.2 MYOD1 WT1
44 sarcomatosis 10.2 EWSR1 WT1
45 vulvar sarcoma 10.2 EWSR1 SMARCB1
46 epithelioid malignant peripheral nerve sheath tumor 10.2 ENO2 SMARCB1
47 mesenchymoma 10.2 MB MYOD1
48 breast rhabdomyosarcoma 10.2 MB MYOD1
49 synovium cancer 10.2 EWSR1 SMARCB1
50 epithelioid cell melanoma 10.2 ENO2 WT1

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:

59 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 Frequent (79-30%)
2 nausea and vomiting 59 Frequent (79-30%)
3 respiratory insufficiency 59 Frequent (79-30%)
4 fever 59 Frequent (79-30%)
5 cranial nerve paralysis 59 Frequent (79-30%)
6 subcutaneous nodule 59 Frequent (79-30%)
7 anemia 59 Occasional (29-5%)
8 abdominal pain 59 Frequent (79-30%)
9 irritability 59 Frequent (79-30%)
10 weight loss 59 Frequent (79-30%)
11 thrombocytopenia 59 Occasional (29-5%)
12 hematuria 59 Frequent (79-30%)
13 neoplasm of the central nervous system 59 Frequent (79-30%)
14 sarcoma 59 Frequent (79-30%)
15 hypercalcemia 59 Occasional (29-5%)
16 internal hemorrhage 59 Frequent (79-30%)
17 cerebral palsy 59 Frequent (79-30%)
18 headache 59 Frequent (79-30%)
19 lymphadenopathy 59 Frequent (79-30%)
20 hemiplegia 59 Occasional (29-5%)
21 neoplasm of the liver 59 Frequent (79-30%)
22 renal neoplasm 59 Frequent (79-30%)
23 oculomotor nerve palsy 59 Frequent (79-30%)
24 poor appetite 59 Frequent (79-30%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 SMARCB1 TP53

MGI Mouse Phenotypes related to Rhabdoid Cancer:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 BCOR MB MYOD1 SMARCA4 SMARCB1 TP53
2 growth/size/body region MP:0005378 9.92 BCOR ENO2 MB MYOD1 SMARCA4 SMARCB1
3 embryo MP:0005380 9.85 BCOR MB SMARCA4 SMARCB1 TP53 WT1
4 muscle MP:0005369 9.73 MB MYOD1 SMARCA4 SMARCB1 TP53 WT1
5 neoplasm MP:0002006 9.55 MYOD1 SMARCA4 SMARCB1 TP53 WT1
6 normal MP:0002873 9.43 MYOD1 PHF10 SMARCA4 SYP TP53 WT1
7 respiratory system MP:0005388 9.1 ENO2 MB MYOD1 SMARCA4 TP53 WT1

Drugs & Therapeutics for Rhabdoid Cancer

Search Clinical Trials , 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

MalaCards organs/tissues related to Rhabdoid Cancer:

41
Kidney, Brain, Liver, Lung, Skin, Heart, Ovary

Publications for Rhabdoid Cancer

Articles related to Rhabdoid Cancer:

(show top 50) (show all 653)
# Title Authors Year
1
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1. ( 29779243 )
2018
2
SMARCA4-deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus): a clinicopathologic entity distinct from undifferentiated carcinoma. ( 29700418 )
2018
3
Primary diffuse leptomeningeal atypical teratoid/rhabdoid tumor diagnosed by cerebrospinal fluid cytology: Case report with molecular genetic analysis. ( 29339179 )
2018
4
Atypical teratoid rhabdoid tumor in a 65-year-old man presenting with disseminated leptomeningeal disease: A case report and review of the literature. ( 29785266 )
2018
5
Cytological features of small cell carcinoma of the ovary-hypercalcemic type/malignant ovarian rhabdoid tumor in ascitic fluid. ( 29446248 )
2018
6
KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition? ( 29696793 )
2018
7
TLE1 Expression in Malignant Rhabdoid Tumor and Atypical Teratoid/Rhabdoid Tumor. ( 29490565 )
2018
8
Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome. ( 29512865 )
2018
9
Dumbbell-shaped atypical teratoid rhabdoid tumor in the cervical spine mimicking schwannoma. ( 29018929 )
2018
10
Atypical teratoid/rhabdoid tumor of the sellar region in adult women: Is it a sex-related disease? ( 29248378 )
2018
11
Atypical Teratoid Rhabdoid Tumor of the Cauda Equina in a Child: Report of a Very Unusual Case. ( 29346182 )
2018
12
Atypical Teratoid/Rhabdoid Tumor of the Spinal Cord in a Child: Case Report and Comprehensive Review of the Literature. ( 29788028 )
2018
13
Atypical Teratoid/Rhabdoid Tumor After In Vitro Fertilization: Illustrative Case Report and Systematic Literature Review. ( 29452330 )
2018
14
Magnetic resonance imaging surrogates of molecular subgroups in atypical teratoid/rhabdoid tumor. ( 30010851 )
2018
15
Pediatric Suprasellar Atypical Teratoid Rhabdoid Tumor Arising from the Third Ventricle: A Rare Tumor at a Very Rare Location. ( 30283571 )
2018
16
Second rhabdoid tumor 8 years after treatment of atypical teratoid/rhabdoid tumor in a child with germline SMARCB1 mutation. ( 30393974 )
2018
17
Sellar Atypical Teratoid/Rhabdoid Tumor Presenting with Subarachnoid and Intraventricular Hemorrhage. ( 30404057 )
2018
18
Spontaneous Regression of Atypical Teratoid Rhabdoid Tumor Without Therapy in a Patient With Uncommon Regional Inactivation of SMARCB1 ( hSNF5/INI1). ( 30470167 )
2018
19
Overall Survival of Primary Intracranial Atypical Teratoid Rhabdoid Tumor Following Multimodal Treatment: A Pooled Analysis of Individual Patient Data. ( 30535934 )
2018
20
A Systematic Review of Atypical Teratoid Rhabdoid Tumor in Adults. ( 30547013 )
2018
21
Intradural lumbosacral malignant extrarenal rhabdoid tumor: a case report. ( 28815340 )
2018
22
High-dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival-The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience. ( 28843054 )
2018
23
Rhabdoid tumor of the liver: Report of 6 pediatric cases treated at a single institute. ( 28966010 )
2018
24
A primary extradural malignant rhabdoid tumor at the craniovertebral junction in a 3-year-old boy. ( 29086074 )
2018
25
Extraordinary disease-free survival in a rare malignant extrarenal rhabdoid tumor: a case report and review of the literature. ( 29452605 )
2018
26
Primary intracerebral INI1-deficient rhabdoid tumor with CD34 immunopositivity in a young adult. ( 29541486 )
2018
27
Ultrasound Presentation of a Disseminated Fetal and Neonatal Rhabdoid Tumor. ( 29670784 )
2018
28
Primary Intraocular Malignant Rhabdoid Tumor Without Extrascleral Compromise. ( 29684225 )
2018
29
Extracranial congenital malignant rhabdoid tumor in infant with disseminated disease: An uncommon entity and diagnostic challenge. ( 29693073 )
2018
30
Pediatric hepatic rhabdoid tumor: A rare cause of abdominal mass in children. ( 30065795 )
2018
31
In Vivo Expansion of Cancer Stemness Affords Novel Cancer Stem Cell Targets: Malignant Rhabdoid Tumor as an Example. ( 30122444 )
2018
32
An Antenatally Detected Pure Malignant Rhabdoid Tumor of the Bladder. ( 30359705 )
2018
33
Atypical teratoid/rhabdoid tumor with retained INI1 (SMARCB1) expression and loss of BRG1 (SMARCA4). ( 29271065 )
2017
34
Atypical Teratoid/ Rhabdoid Tumor of Brain: a Clinicopathologic Study of Eleven Patients and Review of Literature ( 28545192 )
2017
35
Targeting Polo-like kinase 1 in SMARCB1 deleted atypical teratoid rhabdoid tumor. ( 29228610 )
2017
36
Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome. ( 27380723 )
2017
37
Repositioning disulfiram as a radiosensitizer against atypical teratoid/rhabdoid tumor. ( 28340172 )
2017
38
Ewing Sarcoma and Atypical Teratoid Rhabdoid Tumor. ( 28382842 )
2017
39
Correction: Frequent Overexpression of HMGA2 in Human Atypical Teratoid/Rhabdoid Tumor and Its Correlation with let-7a3/let-7b miRNA. ( 28620002 )
2017
40
Atypical Teratoid Rhabdoid Tumor: Two Case Reports and an Analysis of Adult Cases with Implications for Pathophysiology and Treatment. ( 28676785 )
2017
41
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor. ( 28722703 )
2017
42
Atypical teratoid/rhabdoid tumor of lumbar spine in a toddler child. ( 28503314 )
2017
43
Sustained Complete Response to Metronomic Chemotherapy in a Child with Refractory Atypical Teratoid Rhabdoid Tumor: A Case Report. ( 29163174 )
2017
44
Synchronous Central Nervous System Atypical Teratoid/ Rhabdoid Tumor and Malignant Rhabdoid Tumor of the Kidney: Case report of a Long-Term Survivor and Review of the Literature. ( 29223518 )
2017
45
Non-Malignant Cerebrospinal Fluid Ascites in a Patient with Atypical Teratoid Rhabdoid Tumor. ( 28365696 )
2017
46
Loss of CDKN1C in a Recurrent Atypical Teratoid/Rhabdoid Tumor. ( 28731921 )
2017
47
Molecular Transition of an Adult Low-Grade Brain Tumor to an Atypical Teratoid/Rhabdoid Tumor Over a Time-Course of 14 Years. ( 28789476 )
2017
48
Multifocal atypical teratoid rhabdoid tumor of the central nervous system in an adult patient. ( 29150125 )
2017
49
Atypical teratoid rhabdoid tumor of the central nervous system: Case series from a regional Tertiary Care Cancer Centre in South India. ( 29237968 )
2017
50
Sellar Atypical Teratoid/Rhabdoid Tumor (AT/RT): A Clinicopathologically and Genetically Distinct Variant of AT/RT. ( 28338502 )
2017

Variations for Rhabdoid Cancer

ClinVar genetic disease variations for Rhabdoid Cancer:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCB1 NM_003073.4(SMARCB1): c.897G> A (p.Ser299=) single nucleotide variant Benign rs2229354 GRCh37 Chromosome 22, 24167513: 24167513
2 SMARCB1 NM_003073.4(SMARCB1): c.897G> A (p.Ser299=) single nucleotide variant Benign rs2229354 GRCh38 Chromosome 22, 23825326: 23825326
3 SMARCB1 NM_003073.4(SMARCB1): c.362+7C> T single nucleotide variant Benign/Likely benign rs34746244 GRCh37 Chromosome 22, 24135882: 24135882
4 SMARCB1 NM_003073.4(SMARCB1): c.362+7C> T single nucleotide variant Benign/Likely benign rs34746244 GRCh38 Chromosome 22, 23793695: 23793695
5 SMARCB1 NM_003073.4(SMARCB1): c.-157G> A single nucleotide variant Uncertain significance rs886057281 GRCh38 Chromosome 22, 23787013: 23787013
6 SMARCB1 NM_003073.4(SMARCB1): c.-157G> A single nucleotide variant Uncertain significance rs886057281 GRCh37 Chromosome 22, 24129200: 24129200
7 SMARCB1 NM_003073.4(SMARCB1): c.-148T> C single nucleotide variant Uncertain significance rs886057283 GRCh38 Chromosome 22, 23787022: 23787022
8 SMARCB1 NM_003073.4(SMARCB1): c.-148T> C single nucleotide variant Uncertain significance rs886057283 GRCh37 Chromosome 22, 24129209: 24129209
9 SMARCB1 NM_003073.4(SMARCB1): c.723C> T (p.Ile241=) single nucleotide variant Conflicting interpretations of pathogenicity rs752910574 GRCh38 Chromosome 22, 23816864: 23816864
10 SMARCB1 NM_003073.4(SMARCB1): c.723C> T (p.Ile241=) single nucleotide variant Conflicting interpretations of pathogenicity rs752910574 GRCh37 Chromosome 22, 24159051: 24159051
11 SMARCB1 NM_003073.4(SMARCB1): c.*12_*14dupGCA duplication Uncertain significance rs886057285 GRCh38 Chromosome 22, 23834192: 23834194
12 SMARCB1 NM_003073.4(SMARCB1): c.*12_*14dupGCA duplication Uncertain significance rs886057285 GRCh37 Chromosome 22, 24176379: 24176381
13 SMARCB1 NM_003073.4(SMARCB1): c.*113C> T single nucleotide variant Uncertain significance rs886057286 GRCh37 Chromosome 22, 24176480: 24176480
14 SMARCB1 NM_003073.4(SMARCB1): c.*113C> T single nucleotide variant Uncertain significance rs886057286 GRCh38 Chromosome 22, 23834293: 23834293
15 SMARCB1 NM_003073.4(SMARCB1): c.-149C> T single nucleotide variant Uncertain significance rs886057282 GRCh38 Chromosome 22, 23787021: 23787021
16 SMARCB1 NM_003073.4(SMARCB1): c.-149C> T single nucleotide variant Uncertain significance rs886057282 GRCh37 Chromosome 22, 24129208: 24129208
17 SMARCB1 NM_003073.4(SMARCB1): c.-17C> T single nucleotide variant Uncertain significance rs372777519 GRCh38 Chromosome 22, 23787153: 23787153
18 SMARCB1 NM_003073.4(SMARCB1): c.-17C> T single nucleotide variant Uncertain significance rs372777519 GRCh37 Chromosome 22, 24129340: 24129340
19 SMARCB1 NM_003073.4(SMARCB1): c.987-4G> C single nucleotide variant Uncertain significance rs745773662 GRCh38 Chromosome 22, 23833568: 23833568
20 SMARCB1 NM_003073.4(SMARCB1): c.987-4G> C single nucleotide variant Uncertain significance rs745773662 GRCh37 Chromosome 22, 24175755: 24175755
21 SMARCB1 NM_003073.4(SMARCB1): c.*279G> A single nucleotide variant Uncertain significance rs886057287 GRCh38 Chromosome 22, 23834459: 23834459
22 SMARCB1 NM_003073.4(SMARCB1): c.*279G> A single nucleotide variant Uncertain significance rs886057287 GRCh37 Chromosome 22, 24176646: 24176646
23 SMARCB1 NM_003073.4(SMARCB1): c.-107A> G single nucleotide variant Uncertain significance rs886057284 GRCh38 Chromosome 22, 23787063: 23787063
24 SMARCB1 NM_003073.4(SMARCB1): c.-107A> G single nucleotide variant Uncertain significance rs886057284 GRCh37 Chromosome 22, 24129250: 24129250
25 SMARCB1 NM_003073.4(SMARCB1): c.607G> A (p.Ala203Thr) single nucleotide variant Uncertain significance rs762962010 GRCh38 Chromosome 22, 23803401: 23803401
26 SMARCB1 NM_003073.4(SMARCB1): c.607G> A (p.Ala203Thr) single nucleotide variant Uncertain significance rs762962010 GRCh37 Chromosome 22, 24145588: 24145588
27 SMARCB1 NM_003073.4(SMARCB1): c.628+13C> T single nucleotide variant Likely benign rs184021903 GRCh38 Chromosome 22, 23803435: 23803435
28 SMARCB1 NM_003073.4(SMARCB1): c.628+13C> T single nucleotide variant Likely benign rs184021903 GRCh37 Chromosome 22, 24145622: 24145622
29 SMARCB1 NM_003073.4(SMARCB1): c.*17C> T single nucleotide variant Likely benign rs372348692 GRCh37 Chromosome 22, 24176384: 24176384
30 SMARCB1 NM_003073.4(SMARCB1): c.*17C> T single nucleotide variant Likely benign rs372348692 GRCh38 Chromosome 22, 23834197: 23834197
31 SMARCB1 NM_003073.4(SMARCB1): c.*116dupG duplication Benign rs397897183 GRCh37 Chromosome 22, 24176483: 24176483
32 SMARCB1 NM_003073.4(SMARCB1): c.*116dupG duplication Benign rs397897183 GRCh38 Chromosome 22, 23834296: 23834296
33 SMARCB1 NM_003073.4(SMARCB1): c.*293C> T single nucleotide variant Likely benign rs754865420 GRCh37 Chromosome 22, 24176660: 24176660
34 SMARCB1 NM_003073.4(SMARCB1): c.*293C> T single nucleotide variant Likely benign rs754865420 GRCh38 Chromosome 22, 23834473: 23834473
35 SMARCB1 NM_003073.4(SMARCB1): c.-117C> T single nucleotide variant Benign rs11090285 GRCh38 Chromosome 22, 23787053: 23787053
36 SMARCB1 NM_003073.4(SMARCB1): c.-117C> T single nucleotide variant Benign rs11090285 GRCh37 Chromosome 22, 24129240: 24129240
37 SMARCB1 NM_003073.4(SMARCB1): c.-115C> T single nucleotide variant Likely benign rs551328283 GRCh38 Chromosome 22, 23787055: 23787055
38 SMARCB1 NM_003073.4(SMARCB1): c.-115C> T single nucleotide variant Likely benign rs551328283 GRCh37 Chromosome 22, 24129242: 24129242
39 SMARCB1 NM_003073.4(SMARCB1): c.*15C> A single nucleotide variant Likely benign rs369400289 GRCh37 Chromosome 22, 24176382: 24176382
40 SMARCB1 NM_003073.4(SMARCB1): c.*15C> A single nucleotide variant Likely benign rs369400289 GRCh38 Chromosome 22, 23834195: 23834195

Cosmic variations for Rhabdoid Cancer:

9 (show all 39)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM1059 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.916G>T p.E306* 22:23825345-23825345 14
2 COSM1002 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.118C>T p.R40* 22:23791780-23791780 14
3 COSM1055 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.793A>T p.K265* 22:23816934-23816934 14
4 COSM1085 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.629-1G>A p.? 22:23816769-23816769 14
5 COSM1058 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.843G>A p.W281* 22:23825272-23825272 14
6 COSM29385 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.425T>G p.L142* 22:23801006-23801006 14
7 COSM994 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.618G>A p.W206* 22:23803412-23803412 14
8 COSM1053 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.146C>A p.S49* 22:23791808-23791808 14
9 COSM84488 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 19:11027797-11027797 14
10 COSM584 NRAS central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.182A>G p.Q61R 1:114713908-114713908 14
11 COSM1004 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.646G>T p.E216* 22:23816787-23816787 11
12 COSM992 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.472C>T p.R158* 22:23801053-23801053 11
13 COSM1072 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.142C>T p.P48S 22:23791804-23791804 11
14 COSM990 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.778C>T p.Q260* 22:23816919-23816919 11
15 COSM24595 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.157C>T p.R53* 22:23791819-23791819 11
16 COSM53303 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.842G>A p.W281* 22:23825271-23825271 11
17 COSM1001 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.517C>T p.P173S 22:23803311-23803311 11
18 COSM4766058 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.689C>T p.P230L 22:23816830-23816830 11
19 COSM996 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.727C>T p.Q243* 22:23816868-23816868 11
20 COSM4766060 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.961T>A p.W321R 22:23825390-23825390 11
21 COSM991 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.141C>A p.Y47* 22:23791803-23791803 11
22 COSM1075 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.617G>A p.W206* 22:23803411-23803411 11
23 COSM1073 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.851C>T p.S284L 22:23825280-23825280 11
24 COSM1100 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.629-2A>G p.? 22:23816768-23816768 11
25 COSM1070 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.631A>T p.K211* 22:23816772-23816772 11
26 COSM1071 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.838G>T p.E280* 22:23825267-23825267 11
27 COSM53298 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.501-1G>C p.? 22:23803294-23803294 11
28 COSM1651766 SMARCA4 soft tissue,striated muscle,rhabdoid tumour,NS c.2438+1G>T p.? 19:11013113-11013113 11
29 COSM4766064 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.469G>A p.A157T 3:52662192-52662192 11
30 COSM4766063 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.397G>A p.E133K 3:52662264-52662264 11
31 COSM3427747 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.1381C>T p.R461C 3:52628956-52628956 11
32 COSM5702591 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 5
33 COSM28746 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 5
34 COSM28747 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 5
35 COSM28748 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 5
36 COSM28749 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 5
37 COSM28750 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 5
38 COSM5702574 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 5
39 COSM5702592 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 5

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.12 PHF10 SMARCA4 SMARCB1 TP53
2 11.7 EWSR1 TP53 WT1
3
Show member pathways
11.05 SMARCA4 SMARCB1 TP53
4 10.78 EWSR1 TP53
5 10.55 MYOD1 SMARCA4 SMARCB1

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 nuclear chromatin GO:0000790 9.35 MYOD1 PHF10 SMARCA4 SMARCB1 TP53
2 SWI/SNF complex GO:0016514 9.26 SMARCA4 SMARCB1
3 nBAF complex GO:0071565 9.16 SMARCA4 SMARCB1
4 npBAF complex GO:0071564 8.8 PHF10 SMARCA4 SMARCB1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.8 MYOD1 SMARCA4 TP53 WT1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.73 MYOD1 PHF10 SMARCA4 SMARCB1 TP53 WT1
3 negative regulation of cell growth GO:0030308 9.58 SMARCA4 TP53 WT1
4 negative regulation of transcription, DNA-templated GO:0045892 9.55 BCOR PHF10 SMARCA4 TP53 WT1
5 ATP-dependent chromatin remodeling GO:0043044 9.48 SMARCA4 SMARCB1
6 nucleosome disassembly GO:0006337 9.46 SMARCA4 SMARCB1
7 positive regulation by host of viral transcription GO:0043923 9.43 SMARCA4 SMARCB1
8 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.37 SMARCA4 SMARCB1
9 RNA polymerase I preinitiation complex assembly GO:0001188 9.32 SMARCA4 SMARCB1
10 positive regulation of glucose mediated signaling pathway GO:1902661 8.96 SMARCA4 SMARCB1
11 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 8.8 SMARCA4 TP53 WT1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.67 MYOD1 SMARCA4 SMARCB1 TP53
2 transcription factor binding GO:0008134 9.62 BCOR MYOD1 SMARCA4 TP53
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.58 MYOD1 TP53 WT1
4 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.43 SMARCA4 SMARCB1 TP53
5 Tat protein binding GO:0030957 9.16 SMARCA4 SMARCB1
6 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 8.96 SMARCA4 SMARCB1
7 p53 binding GO:0002039 8.8 SMARCA4 SMARCB1 TP53

Sources for Rhabdoid Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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