RTPS1
MCID: RHB008
MIFTS: 53

Rhabdoid Tumor Predisposition Syndrome 1 (RTPS1)

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

Aliases & Classifications for Rhabdoid Tumor Predisposition Syndrome 1

MalaCards integrated aliases for Rhabdoid Tumor Predisposition Syndrome 1:

Name: Rhabdoid Tumor Predisposition Syndrome 1 57 72 29 6 70
Malignant Rhabdoid Tumor, Somatic 29 6
Rhabdoid Tumors, Somatic 57 29
Teratoid Tumor, Atypical 6 70
Rhabdoid Tumor 72 70
Rtps1 57 72
Brain Tumor, Posterior Fossa, of Infancy, Familial 57
Tumor, Rhabdoid, Predisposition Syndrome, Type 1 39
Atypical Teratoid Rhabdoid Tumor 58
Atypical Teratoid/rhabdoid Tumor 70
Malignant Rhabdoid Tumor Somatic 72
Atypical Teratoid Tumor 72
Atrt 58
Mrt 72
Rdt 72

Characteristics:

Orphanet epidemiological data:

58
atypical teratoid rhabdoid tumor
Prevalence: 1-9/100000 (Austria); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: adolescent,early childhood,infantile,late childhood,stillbirth;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
increased risk of developing multiple primary cancers
early age of onset, usually less than 3 years
aggressive malignancies


HPO:

31
rhabdoid tumor predisposition syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 609322
OMIM Phenotypic Series 57 PS609322
MeSH 44 D018335
ICD10 via Orphanet 33 C49.9
Orphanet 58 ORPHA99966
UMLS 70 C0206743 C1266184 C1836326 more

Summaries for Rhabdoid Tumor Predisposition Syndrome 1

OMIM® : 57 The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999). Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT). (609322) (Updated 05-Apr-2021)

MalaCards based summary : Rhabdoid Tumor Predisposition Syndrome 1, also known as malignant rhabdoid tumor, somatic, is related to rhabdoid cancer and hydrocephalus. An important gene associated with Rhabdoid Tumor Predisposition Syndrome 1 is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and BRCA1 Pathway. The drugs Etoposide and Thiotepa have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and t cells, and related phenotypes are macrocephaly and seizures

UniProtKB/Swiss-Prot : 72 Rhabdoid tumor predisposition syndrome 1: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.

Related Diseases for Rhabdoid Tumor Predisposition Syndrome 1

Diseases in the Rhabdoid Tumor Predisposition Syndrome 1 family:

Rhabdoid Tumor Predisposition Syndrome 2

Diseases related to Rhabdoid Tumor Predisposition Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 436)
# Related Disease Score Top Affiliating Genes
1 rhabdoid cancer 32.3 TP53 SMARCB1
2 hydrocephalus 30.7 TP53 SMARCB1
3 ganglioglioma 30.7 TP53 SMARCB1
4 chordoma 30.5 TP53 SMARCB1
5 teratoma 30.5 TP53 SMARCB1
6 meningioma, familial 30.2 TP53 SMARCB1
7 papilloma of choroid plexus 30.1 TP53 SMARCB1
8 hepatoblastoma 30.1 TP53 SMARCB1
9 gliosarcoma 30.1 TP53 ATRX
10 pleomorphic xanthoastrocytoma 30.1 TP53 SMARCB1 ATRX
11 central nervous system cancer 30.1 TP53 SMARCB1 ATRX
12 malignant peripheral nerve sheath tumor 30.0 TP53 SMARCB1
13 choroid plexus cancer 30.0 TP53 SMARCB1 ATRX
14 brain cancer 30.0 TP53 SMARCB1
15 beckwith-wiedemann syndrome 30.0 TP53 SMARCB1
16 osteogenic sarcoma 29.7 TP53 ATRX
17 atypical teratoid rhabdoid tumor 29.7 TP53 SMARCB1 ATRX
18 myoepithelial carcinoma 29.7 TP53 SMARCB1
19 basal cell nevus syndrome 29.6 TP53 SMARCB1
20 pilocytic astrocytoma 29.4 TP53 ATRX
21 malignant astrocytoma 29.3 TP53 ATRX
22 medulloblastoma 11.5
23 striated muscle rhabdoid tumor 11.1
24 rhabdoid tumor predisposition syndrome 2 11.0
25 autosomal recessive non-syndromic intellectual disability 10.9
26 rare tumor 10.7
27 monosomy 22 10.6
28 malaria 10.6
29 intracranial meningioma 10.6
30 secretory meningioma 10.6
31 lymphoplasmacyte-rich meningioma 10.6
32 intracranial hypertension 10.5
33 respiratory failure 10.5
34 rhabdoid meningioma 10.5
35 sarcoma 10.4
36 spindle cell sarcoma 10.4
37 glioma 10.4
38 posttransplant acute limbic encephalitis 10.4
39 glial tumor 10.4
40 ewing sarcoma 10.4
41 cutaneous telangiectasia and cancer syndrome, familial 10.4
42 pineoblastoma 10.4
43 glioblastoma 10.4
44 high grade glioma 10.4
45 neurilemmoma 10.4
46 benign ependymoma 10.4
47 cellular ependymoma 10.4
48 neurofibromatosis 10.4
49 inherited cancer-predisposing syndrome 10.4
50 low grade glioma 10.3

Graphical network of the top 20 diseases related to Rhabdoid Tumor Predisposition Syndrome 1:



Diseases related to Rhabdoid Tumor Predisposition Syndrome 1

Symptoms & Phenotypes for Rhabdoid Tumor Predisposition Syndrome 1

Human phenotypes related to Rhabdoid Tumor Predisposition Syndrome 1:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 Frequent (79-30%)
2 seizures 58 Frequent (79-30%)
3 nausea and vomiting 58 Very frequent (99-80%)
4 ataxia 58 Frequent (79-30%)
5 cerebral calcification 58 Occasional (29-5%)
6 hydrocephalus 58 Frequent (79-30%)
7 muscle weakness 58 Frequent (79-30%)
8 reduced consciousness/confusion 58 Frequent (79-30%)
9 cranial nerve paralysis 58 Occasional (29-5%)
10 irritability 58 Very frequent (99-80%)
11 hemiplegia/hemiparesis 58 Frequent (79-30%)
12 migraine 58 Frequent (79-30%)
13 cerebral palsy 58 Occasional (29-5%)
14 limitation of joint mobility 58 Frequent (79-30%)
15 apathy 58 Very frequent (99-80%)
16 medulloblastoma 31 HP:0002885
17 malignant neoplasm of the central nervous system 58 Very frequent (99-80%)
18 choroid plexus carcinoma 31 HP:0030392

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
medulloblastoma
choroid plexus carcinoma
rhabdoid tumors, malignant (renal or extrarenal)
atypical teratoid tumors

Clinical features from OMIM®:

609322 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Rhabdoid Tumor Predisposition Syndrome 1 according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.47 TP53
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.47 TP53
3 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.47 TP53
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.47 ATRX
5 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.47 TP53
6 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.47 TP53
7 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.47 TP53
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.47 TP53
9 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.47 TP53
10 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.47 TP53
11 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.47 TP53
12 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.47 TP53
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.47 ATRX
14 Increased shRNA abundance (Z-score > 2) GR00366-A-71 9.47 ATRX
15 Increased proliferation GR00094-A 8.96 SMARCB1 TP53

Drugs & Therapeutics for Rhabdoid Tumor Predisposition Syndrome 1

Drugs for Rhabdoid Tumor Predisposition Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 161)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 3 33419-42-0 36462
2
Thiotepa Approved, Investigational Phase 3 52-24-4 5453
3
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
4
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
5
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
6
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
7
leucovorin Approved Phase 3 58-05-9 6006
8
Lenograstim Approved, Investigational Phase 3 135968-09-1
9
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
10
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
11 Etoposide phosphate Phase 3
12 Tubulin Modulators Phase 3
13 Antimitotic Agents Phase 3
14 Hormones Phase 3
15 Trace Elements Phase 3
16 Hematinics Phase 3
17 Nutrients Phase 3
18 Micronutrients Phase 3
19 Adjuvants, Immunologic Phase 3
20 Vitamins Phase 3
21 Keratolytic Agents Phase 3
22 Antidotes Phase 3
23 Calcium, Dietary Phase 3
24 Protective Agents Phase 3
25 Podophyllotoxin Phase 3 518-28-5
26 Antibiotics, Antitubercular Phase 3
27
Liposomal doxorubicin Phase 3 31703
28 Anti-Infective Agents Phase 3
29 Anti-Bacterial Agents Phase 3
30 Cactinomycin Phase 3
31
Calcium Nutraceutical Phase 3 7440-70-2 271
32
Dexrazoxane Approved, Withdrawn Phase 2 24584-09-6 71384
33
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
34
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
35
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
36
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
37
Ipilimumab Approved Phase 2 477202-00-9
38
nivolumab Approved Phase 2 946414-94-4
39
Piperazine Approved, Vet_approved Phase 2 110-85-0 4837
40
Palbociclib Approved, Investigational Phase 2 571190-30-2 5005498 5330286 11431660
41
Mebendazole Approved, Vet_approved Phase 2 31431-39-7 4030
42
Olaparib Approved Phase 2 763113-22-0 23725625
43
Vemurafenib Approved Phase 2 918504-65-1 42611257 23252090
44
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616
45
Ivosidenib Approved, Investigational Phase 2 1448347-49-6 71657455
46
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
47 Fenofibric acid Approved Phase 2 42017-89-0
48
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
49
Bevacizumab Approved, Investigational Phase 2 216974-75-3
50
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907

Interventional clinical trials:

(show top 50) (show all 72)
# Name Status NCT ID Phase Drugs
1 Treatment of Atypical Teratoid/Rhabdoid Tumors (AT/RT) of the Central Nervous System With Surgery, Intensive Chemotherapy, and 3-D Conformal Radiation Active, not recruiting NCT00653068 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Leucovorin Calcium;Methotrexate;Thiotepa;Vincristine Sulfate
2 Treatment of Patients With Newly Diagnosed Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Active, not recruiting NCT00085202 Phase 3 cisplatin;cyclophosphamide;vincristine
3 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
4 Phase II Prospective Study of Sequential Myeloablative Chemotherapy With Stem Cell Rescue for the Treatment of Selected High Risk CNS Tumors and Recurrent CNS Tumors Completed NCT00179803 Phase 2
5 A Phase II Study of Intrathecal and Systemic Chemotherapy With Radiation Therapy for Children With Central Nervous System Atypical Teratoid/Rhabdoid Tumor (AT/RT) Tumor Completed NCT00084838 Phase 2 cisplatin;cyclophosphamide;cytarabine;dexrazoxane hydrochloride;doxorubicin hydrochloride;etoposide;leucovorin calcium;methotrexate;temozolomide;therapeutic hydrocortisone;vincristine sulfate;Dactinomycin
6 A Phase II Study of Oxaliplatin in Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumors and Atypical Teratoid Rhabdoid Tumors Completed NCT00047177 Phase 2 Oxaliplatin
7 Treatment of High Risk Renal Tumors: A Groupwide Phase II Study Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
8 Phase 2 Study of Alisertib as a Single Agent in Recurrent or Progressive Central Nervous System (CNS) Atypical Teratoid Rhabdoid Tumors (AT/RT) and Extra-CNS Malignant Rhabdoid Tumors (MRT) and in Combination Therapy in Newly Diagnosed AT/RT Recruiting NCT02114229 Phase 2 alisertib;methotrexate;cisplatin;carboplatin;cyclophosphamide;etoposide;topotecan;vincristine
9 Phase 2 Proof of Concept Study of Nivolumab and Ipilimumab in Children and Young Adults With Relapsed or Refractory INI1-negative Cancers Recruiting NCT04416568 Phase 2 Nivolumab;Ipilimumab
10 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
11 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) Screening Protocol Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;Samotolisib;Selpercatinib;Selumetinib Sulfate;Tazemetostat;Tipifarnib;Ulixertinib;Vemurafenib
12 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of BVD-523FB (Ulixertinib) in Patients With Tumors Harboring Activating MAPK Pathway Mutations Recruiting NCT03698994 Phase 2 Ulixertinib
13 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
14 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
15 Tazemetostat Rollover Study (TRuST): An Open-Label Rollover Study Recruiting NCT02875548 Phase 2 Tazemetostat
16 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of LOXO-292 in Patients With Tumors Harboring RET Gene Alterations Recruiting NCT04320888 Phase 2 Selpercatinib
17 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
18 NCI-COG Pediatric MATCH (Molecular Analysis For Therapy Choice)- Phase 2 Subprotocol of LY3023414 in Patients With Solid Tumors Recruiting NCT03213678 Phase 2 Samotolisib
19 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Tipifarnib in Patients With Tumors Harboring HRAS Genomic Alterations Recruiting NCT04284774 Phase 2 Tipifarnib
20 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
21 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of JNJ-42756493 (Erdafitinib) in Patients With Tumors Harboring FGFR1/2/3/4 Alterations Recruiting NCT03210714 Phase 2 Erdafitinib
22 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of AG-120 (Ivosidenib) in Patients With Tumors Harboring IDH1 Mutations Recruiting NCT04195555 Phase 2 Ivosidenib
23 A Phase II Study of Metronomic and Targeted Anti-angiogenesis Therapy for Children With Recurrent/Progressive Medulloblastoma, Ependymoma and ATRT Recruiting NCT01356290 Phase 2 Bevacizumab;Thalidomide;Celecoxib;Fenofibric acid;Etoposide;Cyclophosphamide;Etoposide phosphate;Cytarabine
24 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Active, not recruiting NCT02581384 Phase 1, Phase 2
25 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of Tazemetostat in Patients With Tumors Harboring Alterations in EZH2 or Members of the SWI/SNF Complex Suspended NCT03213665 Phase 2 Tazemetostat
26 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)
27 A Phase II Study of Intraventricular Methotrexate With Systemic Topotecan and Cyclophosphamide in Children With Recurrent or Progressive Malignant Brain Tumors Terminated NCT02684071 Phase 2 Intra thecal methotrexate;topotecan;cyclophosphamide
28 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
29 A Phase I Clinical Trial of AZD2171 in Children With Recurrent or Progressive Central Nervous System (CNS) Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
30 A Phase I Trial of CC-5013 (Lenalidomide) in Pediatric Patients With Recurrent or Refractory Primary CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
31 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
32 A Phase I Trial of p28 (NSC745104), a Non-HDM2 Mediated Peptide Inhibitor of p53 Ubiquitination in Pediatric Patients With Recurrent or Progressive CNS Tumors Completed NCT01975116 Phase 1 azurin-derived cell-penetrating peptide p28
33 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
34 A Phase I and Surgical Study of Ribociclib and Everolimus (RAD001) in Children With Recurrent or Refractory Malignant Brain Tumors Completed NCT03387020 Phase 1 Everolimus;Ribociclib
35 A Phase I Study of CD45RA+ Depleted Haploidentical Stem Cell Transplantation in Children With Relapsed or Refractory Solid Tumors and Lymphomas Completed NCT01625351 Phase 1 alemtuzumab;fludarabine;sirolimus;Busulfan;melphalan
36 A Phase 1 Study Using Simvastatin in Combination With Topotecan and Cyclophosphamide in Relapsed and/or Refractory Pediatric Solid and CNS Tumors Completed NCT02390843 Phase 1 Simvastatin;Cyclophosphamide;Topotecan;Myeloid growth factor
37 Sirolimus in Combination With Metronomic Therapy in Children With Recurrent and Refractory Solid Tumors: A Phase I Study Completed NCT01331135 Phase 1 sirolimus
38 An Open-Label, Dose Escalation, Efficacy, and Safety Study of CLR 131 in Children, Adolescents, and Young Adults With Select Solid Tumors, Lymphoma, and Malignant Brain Tumors Recruiting NCT03478462 Phase 1 CLR 131
39 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
40 Phase 1 Study of EGFR806-specific CAR T Cell Locoregional Immunotherapy for EGFR-positive Recurrent or Refractory Pediatric Central Nervous System Tumors Recruiting NCT03638167 Phase 1
41 Phase I Study of EGFR806 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults Recruiting NCT03618381 Phase 1
42 Phase Ib Study of Oncolytic Polio/Rhinovirus Recombinant Against Recurrent Malignant Glioma in Children Recruiting NCT03043391 Phase 1
43 PHASE 1 STUDY TO EVALUATE THE SAFETY AND PHARMACOKINETICS OF PALBOCICLIB (IBRANCE(REGISTERED)) IN COMBINATION WITH IRINOTECAN AND TEMOZOLOMIDE AND IN COMBINATION WITH TOPOTECAN AND CYCLOPHOSPHAMIDE IN PEDIATRIC PATIENTS WITH RECURRENT OR REFRACTORY SOLID TUMORS Recruiting NCT03709680 Phase 1 Palbociclib;Temozolomide;Irinotecan;Topotecan;Cyclophosphamide
44 Phase I Study of B7H3 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults Recruiting NCT04483778 Phase 1
45 A First-in-human Phase I Single-agent Dose-escalation, Food Effect and Dose Expansion Study of Oral ONC206 in Recurrent and Rare Primary Central Nervous System Neoplasms Recruiting NCT04541082 Phase 1 ONC206
46 A Phase I, Open-label Multi-dose Two-part Study to Characterize the Effects of a Strong CYP3A4 Inhibitor and a Strong CYP3A4 Inducer on the Steady-State Pharmacokinetics of Tazemetostat (EPZ-6438) in Subjects With Advanced Malignancies Recruiting NCT04537715 Phase 1 Tazemetostat;Itraconazole;Rifampin
47 Phase 1 Study of B7-H3-Specific CAR T Cell Locoregional Immunotherapy for Diffuse Intrinsic Pontine Glioma/Diffuse Midline Glioma and Recurrent or Refractory Pediatric Central Nervous System Tumors Recruiting NCT04185038 Phase 1
48 Phase 1 Study of HER2-Specific CAR T Cell Locoregional Immunotherapy for HER2 Positive Recurrent/Refractory Pediatric Central Nervous System Tumors Recruiting NCT03500991 Phase 1
49 Molecularly-Driven Doublet Therapy for All Children With Refractory or Recurrent CNS Malignant Neoplasms and Young Adults With Refractory or Recurrent SHH Medulloblastoma Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib
50 A Pilot Study of Allogeneic Hematopoietic Cell Transplantation for Patients With High Grade Central Nervous System Malignancies Recruiting NCT04521946 Phase 1 Etoposide;Fludarabine Phosphate;Melphalan;Mycophenolate Mofetil;Tacrolimus;Thiotepa

Search NIH Clinical Center for Rhabdoid Tumor Predisposition Syndrome 1

Genetic Tests for Rhabdoid Tumor Predisposition Syndrome 1

Genetic tests related to Rhabdoid Tumor Predisposition Syndrome 1:

# Genetic test Affiliating Genes
1 Malignant Rhabdoid Tumor, Somatic 29
2 Rhabdoid Tumor Predisposition Syndrome 1 29 SMARCB1
3 Rhabdoid Tumors, Somatic 29

Anatomical Context for Rhabdoid Tumor Predisposition Syndrome 1

MalaCards organs/tissues related to Rhabdoid Tumor Predisposition Syndrome 1:

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

Publications for Rhabdoid Tumor Predisposition Syndrome 1

Articles related to Rhabdoid Tumor Predisposition Syndrome 1:

(show all 26)
# Title Authors PMID Year
1
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. 6 57
19124645 2009
2
Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. 6 57
10739763 2000
3
Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. 6 57
10521299 1999
4
Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. 6 57
9671307 1998
5
Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). 6
24123847 2014
6
Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. 6
21208904 2011
7
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. 6
18647326 2008
8
Translocation (1;22)(p36;q11.2) with concurrent del(22)(q11.2) resulted in homozygous deletion of SNF5/INI1 in a newly established cell line derived from extrarenal rhabdoid tumor. 57
15378398 2004
9
A key role of the hSNF5/INI1 tumour suppressor in the control of the G1-S transition of the cell cycle. 6
12226744 2002
10
Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a Pediatric Oncology Group study. 57
9737241 1998
11
Narrowing the critical region for a rhabdoid tumor locus in 22q11. 57
8818656 1996
12
Characterization of a pineal region malignant rhabdoid tumor. Towards understanding brain tumor cell invasion. 57
7619721 1995
13
The clinicopathologic spectrum of putative extrarenal rhabdoid tumors. An analysis of 42 cases studied with immunohistochemistry or electron microscopy. 57
8092393 1994
14
Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor. 57
1381945 1992
15
Monosomy 22 in rhabdoid or atypical tumors of the brain. 57
2213160 1990
16
Malignant rhabdoid tumor: a highly malignant childhood tumor with minimal karyotypic changes. 57
1964081 1990
17
Rhabdoid tumor of kidney. A report of 111 cases from the National Wilms' Tumor Study Pathology Center. 57
2543225 1989
18
The association of embryonal tumors originating in the kidney and in the brain. A report of seven cases. 57
6091860 1984
19
Histopathology and prognosis of Wilms tumors: results from the First National Wilms' Tumor Study. 57
206343 1978
20
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group. 61
33532948 2021
21
Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management. 61
33692948 2021
22
Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1. 61
30945057 2019
23
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1. 61
29779243 2018
24
Rhabdoid tumor predisposition syndrome. 61
25494491 2015
25
Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor. 61
25262118 2014
26
RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas. 61
22752724 2012

Variations for Rhabdoid Tumor Predisposition Syndrome 1

ClinVar genetic disease variations for Rhabdoid Tumor Predisposition Syndrome 1:

6 (show top 50) (show all 91)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCB1 NM_003073.5(SMARCB1):c.951del (p.Gln318fs) Deletion Pathogenic 8022 rs587776677 GRCh37: 22:24167567-24167567
GRCh38: 22:23825380-23825380
2 SMARCB1 SMARCB1, 19-BP DEL Deletion Pathogenic 8023 GRCh37:
GRCh38:
3 SMARCB1 NM_003073.5(SMARCB1):c.351del (p.Thr118fs) Deletion Pathogenic 692027 rs1555876140 GRCh37: 22:24135859-24135859
GRCh38: 22:23793672-23793672
4 SMARCB1 NM_003073.5(SMARCB1):c.591del (p.Gln198fs) Deletion Pathogenic 8024 rs587776678 GRCh37: 22:24145570-24145570
GRCh38: 22:23803383-23803383
5 SMARCB1 NM_003073.5(SMARCB1):c.986+1G>A SNV Pathogenic 8025 rs112038099 GRCh37: 22:24167603-24167603
GRCh38: 22:23825416-23825416
6 SMARCB1 NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter) SNV Pathogenic 410703 rs1060503016 GRCh37: 22:24134001-24134001
GRCh38: 22:23791814-23791814
7 SMARCB1 NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs) Deletion Pathogenic 410704 rs1060503017 GRCh37: 22:24167585-24167592
GRCh38: 22:23825398-23825405
8 SMARCB1 NM_003073.5(SMARCB1):c.118C>T (p.Arg40Ter) SNV Pathogenic 410698 rs1060503015 GRCh37: 22:24133967-24133967
GRCh38: 22:23791780-23791780
9 SMARCB1 NC_000022.11:g.(?_23793553)_(23793694_?)del Deletion Pathogenic 464316 GRCh37: 22:24135740-24135881
GRCh38: 22:23793553-23793694
10 SMARCB1 NM_003073.5(SMARCB1):c.184A>T (p.Lys62Ter) SNV Pathogenic 464323 rs1555875917 GRCh37: 22:24134033-24134033
GRCh38: 22:23791846-23791846
11 SMARCB1 NC_000022.11:g.(?_23787164)_(23834186_?)del Deletion Pathogenic 464313 GRCh37: 22:24129351-24176373
GRCh38: 22:23787164-23834186
12 SMARCB1 NM_003073.5(SMARCB1):c.1118+1G>A SNV Pathogenic 464317 rs1555881586 GRCh37: 22:24175891-24175891
GRCh38: 22:23833704-23833704
13 SMARCB1 NM_003073.5(SMARCB1):c.137_140dup (p.Tyr47Ter) Duplication Pathogenic 464322 rs1555875892 GRCh37: 22:24133984-24133985
GRCh38: 22:23791797-23791798
14 SMARCB1 NM_003073.5(SMARCB1):c.501-1G>C SNV Pathogenic 464328 rs1555877276 GRCh37: 22:24145481-24145481
GRCh38: 22:23803294-23803294
15 SMARCB1 NM_003073.5(SMARCB1):c.362+1G>A SNV Pathogenic 582116 rs1568937197 GRCh37: 22:24135876-24135876
GRCh38: 22:23793689-23793689
16 SMARCB1 NM_003073.5(SMARCB1):c.812del (p.Gly271fs) Deletion Pathogenic 695025 rs1601433318 GRCh37: 22:24167426-24167426
GRCh38: 22:23825239-23825239
17 SMARCB1 NM_003073.5(SMARCB1):c.629-361_795+2103dup Duplication Pathogenic 8030 GRCh37: 22:24158592-24158593
GRCh38: 22:23816405-23816406
18 TP53 NM_000546.6(TP53):c.733G>A (p.Gly245Ser) SNV Pathogenic 12365 rs28934575 GRCh37: 17:7577548-7577548
GRCh38: 17:7674230-7674230
19 ATRX NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) SNV Pathogenic 11724 rs45439799 GRCh37: X:76856021-76856021
GRCh38: X:77600552-77600552
20 SMARCB1 NM_003073.5(SMARCB1):c.1062_1063del (p.Glu354fs) Microsatellite Pathogenic 1032872 GRCh37: 22:24175832-24175833
GRCh38: 22:23833645-23833646
21 SMARCB1 NM_003073.5(SMARCB1):c.1070C>T (p.Thr357Ile) SNV Likely pathogenic 580796 rs1555881567 GRCh37: 22:24175842-24175842
GRCh38: 22:23833655-23833655
22 SMARCB1 NM_003073.5(SMARCB1):c.233-2A>G SNV Likely pathogenic 581570 rs1568937087 GRCh37: 22:24135744-24135744
GRCh38: 22:23793557-23793557
23 SMARCB1 NC_000022.11:g.(?_23833566)_(23834186_?)del Deletion Likely pathogenic 532988 GRCh37: 22:24175753-24176373
GRCh38: 22:23833566-23834186
24 SMARCB1 NM_003073.5(SMARCB1):c.985A>G (p.Ser329Gly) SNV Uncertain significance 566461 rs1568957782 GRCh37: 22:24167601-24167601
GRCh38: 22:23825414-23825414
25 SMARCB1 NM_003073.5(SMARCB1):c.469G>T (p.Gly157Cys) SNV Uncertain significance 570203 rs1568941668 GRCh37: 22:24143237-24143237
GRCh38: 22:23801050-23801050
26 SMARCB1 NM_003073.5(SMARCB1):c.828G>A (p.Val276=) SNV Uncertain significance 574884 rs1568957579 GRCh37: 22:24167444-24167444
GRCh38: 22:23825257-23825257
27 SMARCB1 NM_003073.5(SMARCB1):c.14C>T (p.Ala5Val) SNV Uncertain significance 577312 rs1568933235 GRCh37: 22:24129370-24129370
GRCh38: 22:23787183-23787183
28 SMARCB1 NM_003073.5(SMARCB1):c.1059G>A (p.Leu353=) SNV Uncertain significance 578275 rs1568962989 GRCh37: 22:24175831-24175831
GRCh38: 22:23833644-23833644
29 SMARCB1 NM_003073.5(SMARCB1):c.673G>T (p.Asp225Tyr) SNV Uncertain significance 581167 rs768379745 GRCh37: 22:24159001-24159001
GRCh38: 22:23816814-23816814
30 SMARCB1 NM_003073.5(SMARCB1):c.193G>T (p.Ala65Ser) SNV Uncertain significance 532965 rs1555875920 GRCh37: 22:24134042-24134042
GRCh38: 22:23791855-23791855
31 SMARCB1 NM_003073.5(SMARCB1):c.633G>A (p.Lys211=) SNV Uncertain significance 900547 GRCh37: 22:24158961-24158961
GRCh38: 22:23816774-23816774
32 SMARCB1 NM_003073.5(SMARCB1):c.309C>T (p.Asn103=) SNV Uncertain significance 532975 rs145695677 GRCh37: 22:24135822-24135822
GRCh38: 22:23793635-23793635
33 SMARCB1 NM_003073.5(SMARCB1):c.*159C>G SNV Uncertain significance 899471 GRCh37: 22:24176526-24176526
GRCh38: 22:23834339-23834339
34 SMARCB1 NM_003073.5(SMARCB1):c.*197A>C SNV Uncertain significance 899472 GRCh37: 22:24176564-24176564
GRCh38: 22:23834377-23834377
35 SMARCB1 NM_003073.5(SMARCB1):c.284A>G (p.Glu95Gly) SNV Uncertain significance 582740 rs1568937129 GRCh37: 22:24135797-24135797
GRCh38: 22:23793610-23793610
36 BRCA2 NM_000059.3(BRCA2):c.9503_9506delinsTAAG (p.Asn3168_Ile3169delinsIleSer) Indel Uncertain significance 620616 rs1566260060 GRCh37: 13:32971036-32971039
GRCh38: 13:32396899-32396902
37 SMARCB1 NM_003073.5(SMARCB1):c.539C>T (p.Ala180Val) SNV Uncertain significance 464329 rs1555877280 GRCh37: 22:24145520-24145520
GRCh38: 22:23803333-23803333
38 SMARCB1 NM_003073.5(SMARCB1):c.1097G>A (p.Arg366His) SNV Uncertain significance 532968 rs1555881572 GRCh37: 22:24175869-24175869
GRCh38: 22:23833682-23833682
39 SMARCB1 NM_003073.5(SMARCB1):c.731A>T (p.Gln244Leu) SNV Uncertain significance 532972 rs763202805 GRCh37: 22:24159059-24159059
GRCh38: 22:23816872-23816872
40 SMARCB1 NM_003073.5(SMARCB1):c.508G>A (p.Asp170Asn) SNV Uncertain significance 565841 rs1568943134 GRCh37: 22:24145489-24145489
GRCh38: 22:23803302-23803302
41 SMARCB1 NM_003073.5(SMARCB1):c.*307A>G SNV Uncertain significance 900606 GRCh37: 22:24176674-24176674
GRCh38: 22:23834487-23834487
42 SMARCB1 NM_003073.5(SMARCB1):c.1118+8T>C SNV Uncertain significance 902212 GRCh37: 22:24175898-24175898
GRCh38: 22:23833711-23833711
43 SMARCB1 NM_003073.5(SMARCB1):c.-83C>T SNV Uncertain significance 903043 GRCh37: 22:24129274-24129274
GRCh38: 22:23787087-23787087
44 SMARCB1 NM_003073.5(SMARCB1):c.*100C>G SNV Uncertain significance 903097 GRCh37: 22:24176467-24176467
GRCh38: 22:23834280-23834280
45 SMARCB1 NC_000022.10:g.(?_24133937)_(24176373_?)dup Duplication Uncertain significance 464315 GRCh37: 22:24133937-24176373
GRCh38: 22:23791750-23834186
46 SMARCB1 NC_000022.10:g.(?_24143125)_(24176373_?)dup Duplication Uncertain significance 464318 GRCh37: 22:24143125-24176373
GRCh38:
47 SMARCB1 NM_003073.5(SMARCB1):c.613A>T (p.Thr205Ser) SNV Uncertain significance 464331 rs1555877290 GRCh37: 22:24145594-24145594
GRCh38: 22:23803407-23803407
48 SMARCB1 NM_003073.5(SMARCB1):c.713C>T (p.Ala238Val) SNV Uncertain significance 410708 rs1060503019 GRCh37: 22:24159041-24159041
GRCh38: 22:23816854-23816854
49 SMARCB1 NM_003073.5(SMARCB1):c.-107A>G SNV Uncertain significance 340910 rs886057284 GRCh37: 22:24129250-24129250
GRCh38: 22:23787063-23787063
50 SMARCB1 NM_003073.5(SMARCB1):c.-157G>A SNV Uncertain significance 340905 rs886057281 GRCh37: 22:24129200-24129200
GRCh38: 22:23787013-23787013

Cosmic variations for Rhabdoid Tumor Predisposition Syndrome 1:

9 (show top 50) (show all 165)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM145017746 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.419A>G p.H140R 17:7675076-7675076 6
2 COSM142837411 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
3 COSM105619974 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
4 COSM122734244 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.140A>G p.H47R 17:7675076-7675076 6
5 COSM143943797 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.266G>A p.R89Q 17:7674220-7674220 6
6 COSM144310268 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.419A>G p.H140R 17:7675076-7675076 6
7 COSM144013178 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.692G>A p.C231Y 17:7674238-7674238 6
8 COSM142560362 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.419A>G p.H140R 17:7675076-7675076 6
9 COSM142837352 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
10 COSM143156889 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.59A>G p.H20R 17:7675076-7675076 6
11 COSM144651207 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.419A>G p.H140R 17:7675076-7675076 6
12 COSM143943866 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.59A>G p.H20R 17:7675076-7675076 6
13 COSM121875681 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.329G>A p.C110Y 17:7674238-7674238 6
14 COSM144651115 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.626G>A p.R209Q 17:7674220-7674220 6
15 COSM87898351 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
16 COSM105620368 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
17 COSM93183388 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
18 COSM122271641 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.140A>G p.H47R 17:7675076-7675076 6
19 COSM111758330 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
20 COSM122734176 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.347G>A p.R116Q 17:7674220-7674220 6
21 COSM142560004 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.608G>A p.C203Y 17:7674238-7674238 6
22 COSM143156843 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.266G>A p.R89Q 17:7674220-7674220 6
23 COSM105620276 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
24 COSM112253180 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
25 COSM143370947 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.419A>G p.H140R 17:7675076-7675076 6
26 COSM111758576 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
27 COSM122733935 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.329G>A p.C110Y 17:7674238-7674238 6
28 COSM87897832 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
29 COSM122271350 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.329G>A p.C110Y 17:7674238-7674238 6
30 COSM106053002 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
31 COSM93183717 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
32 COSM112253622 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
33 COSM106053189 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
34 COSM144087017 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.248G>A p.C83Y 17:7674238-7674238 6
35 COSM121876067 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.140A>G p.H47R 17:7675076-7675076 6
36 COSM93183630 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
37 COSM106053255 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
38 COSM144087106 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.266G>A p.R89Q 17:7674220-7674220 6
39 COSM112253686 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
40 COSM145017657 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.626G>A p.R209Q 17:7674220-7674220 6
41 COSM143943616 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.248G>A p.C83Y 17:7674238-7674238 6
42 COSM87898444 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
43 COSM144310004 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.608G>A p.C203Y 17:7674238-7674238 6
44 COSM121875983 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.347G>A p.R116Q 17:7674220-7674220 6
45 COSM143370664 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.608G>A p.C203Y 17:7674238-7674238 6
46 COSM111758646 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
47 COSM145017411 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.608G>A p.C203Y 17:7674238-7674238 6
48 COSM142837171 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
49 COSM144013367 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.710G>A p.R237Q 17:7674220-7674220 6
50 COSM143156683 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.248G>A p.C83Y 17:7674238-7674238 6

Expression for Rhabdoid Tumor Predisposition Syndrome 1

Search GEO for disease gene expression data for Rhabdoid Tumor Predisposition Syndrome 1.

Pathways for Rhabdoid Tumor Predisposition Syndrome 1

Pathways related to Rhabdoid Tumor Predisposition Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.56 SMARCB1 ATRX
2
Show member pathways
10.87 TP53 SMARCB1
3 10.44 TP53 ATRX

GO Terms for Rhabdoid Tumor Predisposition Syndrome 1

Cellular components related to Rhabdoid Tumor Predisposition Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 PML body GO:0016605 8.96 TP53 ATRX
2 nuclear chromosome GO:0000228 8.62 SMARCB1 ATRX

Biological processes related to Rhabdoid Tumor Predisposition Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.43 TP53 SMARCB1 ATRX
2 chromatin remodeling GO:0006338 9.16 SMARCB1 ATRX
3 multicellular organism growth GO:0035264 8.96 TP53 ATRX
4 DNA damage response, signal transduction by p53 class mediator GO:0030330 8.62 TP53 ATRX

Molecular functions related to Rhabdoid Tumor Predisposition Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 p53 binding GO:0002039 8.62 TP53 SMARCB1

Sources for Rhabdoid Tumor Predisposition Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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