RTPS1
MCID: RHB008
MIFTS: 65

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 56 73 29 6 71
Rhabdoid Tumor 73 29 54 6 43 71
Malignant Rhabdoid Tumor, Somatic 29 6
Rhabdoid Tumors, Somatic 56 29
Teratoid Tumor, Atypical 6 71
Rtps1 56 73
Brain Tumor, Posterior Fossa, of Infancy, Familial 56
Tumor, Rhabdoid, Predisposition Syndrome, Type 1 39
Atypical Teratoid Rhabdoid Tumor 58
Atypical Teratoid/rhabdoid Tumor 71
Malignant Rhabdoid Tumor Somatic 73
Atypical Teratoid Tumor 73
Atrt 58
Mrt 73
Rdt 73

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:

56
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


Summaries for Rhabdoid Tumor Predisposition Syndrome 1

OMIM : 56 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)

MalaCards based summary : Rhabdoid Tumor Predisposition Syndrome 1, also known as rhabdoid tumor, is related to rhabdoid cancer and rare tumor. 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 Cytoskeletal Signaling and Interleukin-4 and 13 signaling. The drugs Lenograstim and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and liver, and related phenotypes are cranial nerve paralysis and irritability

UniProtKB/Swiss-Prot : 73 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 671)
# Related Disease Score Top Affiliating Genes
1 rhabdoid cancer 33.4 WT1 TP53 SMARCB1
2 rare tumor 31.6 DES ACTC1
3 wilms tumor 1 31.5 WT1 TP53 SYP SMARCB1 IGF2 IGF1R
4 secretory meningioma 31.4 VIM SMARCB1 MUC1
5 meningioma, radiation-induced 31.3 VIM SMARCB1 MUC1
6 medulloblastoma 31.3 VIM TP53 SYP SMARCB1 MYOD1 IGF2
7 choroid plexus cancer 31.3 TP53 SYP SMARCB1
8 hydrocephalus 31.2 VIM TP53 SYP SMARCB1
9 rhabdoid meningioma 31.2 VIM SYP SMARCB1
10 pleomorphic xanthoastrocytoma 31.2 TP53 SYP SMARCB1
11 ganglioglioma 31.1 TP53 SYP SMARCB1
12 benign ependymoma 31.1 VIM SYP MUC1
13 nodular medulloblastoma 31.1 SYP SMARCB1
14 medullomyoblastoma 31.0 SYP DES
15 epithelioid sarcoma 31.0 VIM SYP SMARCB1 MUC1
16 central epithelioid sarcoma 30.9 VIM SYP SMARCB1
17 meningioma, familial 30.8 TP53 SYP SMARCB1 IGF2
18 malignant mesenchymoma 30.7 MYOD1 DES
19 spinal cancer 30.7 TP53 SYP SMARCB1
20 ependymoblastoma 30.7 VIM SYP SMARCB1
21 cauda equina neoplasm 30.7 WT1 SYP
22 teratoma 30.7 VIM TP53 SYP SMARCB1 ACTC1
23 spindle cell sarcoma 30.7 VIM MUC1 DES ACTC1
24 pineal gland cancer 30.6 SYP SMARCB1
25 mucoepidermoid carcinoma 30.6 TP53 MUC1 ACTC1
26 chordoma 30.6 VIM TP53 SMARCB1 MUC1 DES
27 neurilemmoma 30.5 VIM SMARCB1 MUC1 DES ACTC1
28 lymphangiectasis 30.5 VIM ACTC1
29 myxoid chondrosarcoma 30.4 SYP SMARCB1 MUC1
30 gliosarcoma 30.4 VIM TP53 SYP ACTC1
31 ring chromosome 30.4 TP53 IGF1R
32 fibrous histiocytoma 30.3 VIM TP53 DES ACTC1
33 uterine sarcoma 30.3 WT1 SMARCB1
34 embryonal sarcoma 30.3 VIM TP53 MYOD1 DES
35 collecting duct carcinoma 30.3 VIM SMARCB1 MUC1
36 clear cell sarcoma 30.3 WT1 SYP IGF2
37 desmoplastic small round cell tumor 30.2 WT1 VIM MUC1 DES
38 vulvar proximal-type epithelioid sarcoma 30.2 VIM SYP SMARCB1
39 papillary adenoma 30.2 VIM TP53 SYP
40 lymphangioma 30.2 VIM TP53 ACTC1
41 benign teratoma 30.2 TP53 SYP MUC1
42 angiosarcoma 30.2 VIM TP53 MUC1
43 olfactory neuroblastoma 30.2 VIM SYP PTPRC
44 fibromatosis 30.1 VIM DES ACTC1
45 endometrial stromal sarcoma 30.1 VIM TP53 DES ACTC1
46 medulloepithelioma 30.1 VIM SYP SMARCB1 MUC1 DES
47 neurofibroma 30.1 VIM TP53 SYP MUC1 ACTC1
48 cerebellar medulloblastoma 30.1 TP53 SYP
49 oncocytoma 30.1 VIM SYP MUC1
50 pleuropulmonary blastoma 30.1 TP53 IGF2 DES

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 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cranial nerve paralysis 58 31 frequent (33%) Occasional (29-5%) HP:0006824
2 irritability 58 31 frequent (33%) Very frequent (99-80%) HP:0000737
3 nausea and vomiting 58 31 frequent (33%) Very frequent (99-80%) HP:0002017
4 cerebral palsy 58 31 frequent (33%) Occasional (29-5%) HP:0100021
5 fever 31 frequent (33%) HP:0001945
6 weight loss 31 frequent (33%) HP:0001824
7 subcutaneous nodule 31 frequent (33%) HP:0001482
8 hematuria 31 frequent (33%) HP:0000790
9 abdominal pain 31 frequent (33%) HP:0002027
10 hypertension 31 frequent (33%) HP:0000822
11 respiratory insufficiency 31 frequent (33%) HP:0002093
12 neoplasm of the central nervous system 31 frequent (33%) HP:0100006
13 sarcoma 31 frequent (33%) HP:0100242
14 internal hemorrhage 31 frequent (33%) HP:0011029
15 headache 31 frequent (33%) HP:0002315
16 lymphadenopathy 31 frequent (33%) HP:0002716
17 neoplasm of the liver 31 frequent (33%) HP:0002896
18 renal neoplasm 31 frequent (33%) HP:0009726
19 oculomotor nerve palsy 31 frequent (33%) HP:0012246
20 poor appetite 31 frequent (33%) HP:0004396
21 anemia 31 occasional (7.5%) HP:0001903
22 thrombocytopenia 31 occasional (7.5%) HP:0001873
23 hypercalcemia 31 occasional (7.5%) HP:0003072
24 hemiplegia 31 occasional (7.5%) HP:0002301
25 macrocephaly 58 Frequent (79-30%)
26 seizures 58 Frequent (79-30%)
27 hydrocephalus 58 Frequent (79-30%)
28 reduced consciousness/confusion 58 Frequent (79-30%)
29 muscle weakness 58 Frequent (79-30%)
30 ataxia 58 Frequent (79-30%)
31 hemiplegia/hemiparesis 58 Frequent (79-30%)
32 migraine 58 Frequent (79-30%)
33 cerebral calcification 58 Occasional (29-5%)
34 limitation of joint mobility 58 Frequent (79-30%)
35 apathy 58 Very frequent (99-80%)
36 medulloblastoma 31 HP:0002885
37 malignant neoplasm of the central nervous system 58 Very frequent (99-80%)
38 choroid plexus carcinoma 31 HP:0030392

Symptoms via clinical synopsis from OMIM:

56
Neoplasia:
medulloblastoma
choroid plexus carcinoma
rhabdoid tumors, malignant (renal or extrarenal)
atypical teratoid tumors

Clinical features from OMIM:

609322

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

26 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.98 WT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.98 VIM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.98 BCR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.98 ACTC1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.98 WT1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.98 WT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.98 WT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.98 IGF1R
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.98 BCR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.98 SMARCB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.98 VIM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.98 VIM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.98 SMARCB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.98 ACTC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.98 WT1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.98 BCR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.98 BCR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.98 WT1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.98 WT1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.98 WT1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.98 IGF1R
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.98 VIM
23 Increased shRNA abundance (Z-score > 2) GR00366-A-75 9.98 SMARCB1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.98 BCR WT1 IGF1R
25 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.98 BCR
26 Increased proliferation GR00094-A 8.96 SMARCB1 TP53

MGI Mouse Phenotypes related to Rhabdoid Tumor Predisposition Syndrome 1:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 ACTC1 DES IGF1R IGF2 MYOD1 PTPRC
2 cellular MP:0005384 10.27 ACTC1 BCR DES IGF1R IGF2 PTPRC
3 homeostasis/metabolism MP:0005376 10.25 ACTC1 BCR DES IGF1R IGF2 MYOD1
4 growth/size/body region MP:0005378 10.22 ACTC1 BCR IGF1R IGF2 MYOD1 PTPRC
5 hematopoietic system MP:0005397 10.16 BCR IGF1R IGF2 PTPRC SMARCB1 SPP1
6 mortality/aging MP:0010768 10.13 ACTC1 BCR DES IGF1R IGF2 MYOD1
7 immune system MP:0005387 10.1 BCR IGF1R IGF2 PTPRC SMARCB1 SPP1
8 liver/biliary system MP:0005370 9.97 BCR IGF1R IGF2 PTPRC SMARCB1 SPP1
9 muscle MP:0005369 9.96 ACTC1 DES IGF1R IGF2 MYOD1 SMARCB1
10 neoplasm MP:0002006 9.7 IGF1R MYOD1 PTPRC SMARCB1 SPP1 TP53
11 nervous system MP:0003631 9.7 ACTC1 BCR IGF1R IGF2 PTPRC SMARCB1
12 respiratory system MP:0005388 9.28 IGF1R IGF2 MYOD1 PTPRC SPP1 STIM1

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 169)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 3 135968-09-1
2
Etoposide Approved Phase 3 33419-42-0 36462
3
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
4
Sargramostim Approved, Investigational Phase 3 83869-56-1, 123774-72-1
5
Sulfamethoxazole Approved Phase 3 723-46-6 5329
6
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
8
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
9
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
10
leucovorin Approved Phase 3 58-05-9 6006 143
11
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
12
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
13
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
14
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
15
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
16 Molgramostim Investigational Phase 3 99283-10-0
17 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
18 Tubulin Modulators Phase 3
19 Antimitotic Agents Phase 3
20 Etoposide phosphate Phase 3
21 Liver Extracts Phase 3
22 Anesthetics Phase 3
23 Cola Phase 3
24 Narcotics Phase 3
25 Analgesics Phase 3
26 Analgesics, Opioid Phase 3
27 Anesthetics, General Phase 3
28 Anesthetics, Intravenous Phase 3
29 Micronutrients Phase 3
30 Trace Elements Phase 3
31 Vitamins Phase 3
32 Vitamin B Complex Phase 3
33 Folic Acid Antagonists Phase 3
34 Folate Phase 3
35 Dermatologic Agents Phase 3
36 Nutrients Phase 3
37 Vitamin B9 Phase 3
38 Adjuvants, Immunologic Phase 3
39 Anti-Infective Agents Phase 3
40 Hematinics Phase 3
41 Podophyllotoxin Phase 3 518-28-5
42 Calcium, Dietary Phase 3
43 Keratolytic Agents Phase 3
44 Antibiotics, Antitubercular Phase 3
45
Liposomal doxorubicin Phase 3 31703
46 Anti-Bacterial Agents Phase 3
47 Cactinomycin Phase 3
48
Calcium Nutraceutical Phase 3 7440-70-2 271
49
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 6857599 5310940 9887054
50
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311

Interventional clinical trials:

(show top 50) (show all 103)
# Name Status NCT ID Phase Drugs
1 Dose Intensive Chemotherapy for Children Less Than Ten Years of Age Newly-Diagnosed With Malignant Brain Tumors: A Pilot Study of Two Alternative Intensive Induction Chemotherapy Regimens, Followed by Consolidation With Myeloablative Chemotherapy (Thiotepa and Carboplatin, With or Without Etoposide) and Autologous Stem Cell Rescue [HEAD START III] Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
2 Phase II Prospective Study of Sequential Myeloablative Chemotherapy With Stem Cell Rescue for the Treatment of Selected High Risk CNS Tumors and Recurrent CNS Tumors Unknown status NCT00179803 Phase 2, Phase 3
3 Systemic Chemotherapy, Second Look Surgery and Conformal Radiation Therapy Limited to the Posterior Fossa and Primary Site for Children >/= to 8 Months and <3 Years With Non-metastatic Medulloblastoma: A Children&Apos;s Oncology Group Phase III Study Completed NCT00006461 Phase 3 cisplatin;cyclophosphamide;vincristine sulfate;etoposide
4 NATIONAL WILMS TUMOR STUDY-5 -- THERAPEUTIC TRIAL AND BIOLOGY STUDY Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
5 National Wilms Tumor Study-5 -- Treatment of Relapsed Patients, A National Wilms Tumor Study Group Phase III Study Completed NCT00002610 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
6 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
7 Treatment of Patients With Newly Diagnosed Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Active, not recruiting NCT00085202 Phase 3 cisplatin;cyclophosphamide;vincristine
8 Treatment of Atypical Teratoid/Rhabdoid Tumors (AT/RT) of the Central Nervous System With Surgery, Intensive Chemotherapy, and 3-D Conformal Radiation Active, not recruiting NCT00653068 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Leucovorin Calcium;Methotrexate;Thiotepa;Vincristine Sulfate
9 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
10 A Phase II Study of Oxaliplatin in Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumors and Atypical Teratoid Rhabdoid Tumors Completed NCT00047177 Phase 2 Oxaliplatin
11 A Phase II Study of Intrathecal and Systemic Chemotherapy With Radiation Therapy for Children With Central Nervous System Atypical Teratoid/Rhabdoid Tumor (AT/RT) Tumor Completed NCT00084838 Phase 2 cisplatin;cyclophosphamide;cytarabine;dexrazoxane hydrochloride;doxorubicin hydrochloride;etoposide;leucovorin calcium;methotrexate;temozolomide;therapeutic hydrocortisone;vincristine sulfate;Dactinomycin
12 Treatment of High Risk Renal Tumors: A Groupwide Phase II Study Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
13 Phase I/II Intra-patient Dose Escalation Study of Vorinostat in Children With Relapsed Solid Tumor, Lymphoma or Leukemia Completed NCT01422499 Phase 1, Phase 2 zolinza/vorinostat
14 A Phase I/IIA Dose-Escalating Trial of BCL-2 Antisense (G3139) Treatment for Patients With Androgen-Independent Prostate Cancer or Other Advanced Solid Tumor Malignancies Completed NCT00003103 Phase 1, Phase 2 docetaxel
15 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
16 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
17 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
18 Tazemetostat Rollover Study (TRuST): An Open-Label Rollover Study Recruiting NCT02875548 Phase 2 Tazemetostat
19 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
20 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
21 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
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 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
24 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Tazemetostat in Patients With Tumors Harboring Alterations in EZH2 or Members of the SWI/SNF Complex Recruiting NCT03213665 Phase 2 Tazemetostat
25 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
26 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
27 NCI-COG Pediatric MATCH (Molecular Analysis For Therapy Choice)- Phase 2 Subprotocol of LY3023414 in Patients With Solid Tumors Recruiting NCT03213678 Phase 2 Samotolisib
28 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
29 Phase II Study of Intrathecal I-3F8 in Patients With GD2-Expressing Central Nervous System and Leptomeningeal Neoplasms Active, not recruiting NCT00445965 Phase 2
30 Dasatinib With Ifosfamide, Carboplatin, Etoposide: A Pediatric Phase I/II Trial Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
31 Risk-Adapted Therapy for Young Children With Embryonal Brain Tumors, Choroid Plexus Carcinoma, High Grade Glioma or Ependymoma Active, not recruiting NCT00602667 Phase 2 Induction Chemotherapy;Low-Risk Therapy;High-Risk Therapy;Intermediate-Risk Therapy
32 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Active, not recruiting NCT02581384 Phase 1, Phase 2
33 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of LOXO-292 in Patients With Tumors Harboring RET Gene Alterations Not yet recruiting NCT04320888 Phase 2 Selpercatinib
34 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Tipifarnib in Patients With Tumors Harboring HRAS Genomic Alterations Not yet recruiting NCT04284774 Phase 2 Tipifarnib
35 Phase I/II Study of Intra-arterial Melphalan Given With Intra-arterial Carboplatin, Osmotic Blood-Brain Barrier Disruption and Delayed Otoprotective Sodium Thiosulfate for Patients With Recurrent or Progressive CNS Embryonal or Germ Cell Tumors Suspended NCT00983398 Phase 1, Phase 2 Carboplatin;Mannitol;Melphalan;Sodium Thiosulfate
36 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
37 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)
38 Phase I Trial Of Escalating Oral Doses Of SCH 66336 In Pediatric Patients With Refractory Or Recurrent Brain Tumors Completed NCT00015899 Phase 1 lonafarnib
39 A Phase I Clinical Trial of AZD2171 in Children With Recurrent or Progressive Central Nervous System (CNS) Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
40 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
41 A Phase I Trial of CC-5013 (Lenalidomide) in Pediatric Patients With Recurrent or Refractory Primary CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
42 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
43 High Dose Carboplatin Combined With Oral VP-16 In The Treatment Of Pediatric CNS Malignancies Completed NCT00053118 Phase 1 carboplatin;etoposide
44 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
45 A Phase I Study of Temozolomide, Oral Irinotecan, and Vincristine for Children With Refractory Solid Tumors Completed NCT00138216 Phase 1 irinotecan hydrochloride;temozolomide;vincristine sulfate
46 A Pilot Study of Intensive Chemotherapy With Peripheral Stem Cell Support for Infants With Malignant Brain Tumors Completed NCT00003141 Phase 1 carboplatin;cisplatin;cyclophosphamide;etoposide;thiotepa;vincristine sulfate
47 A Phase I Trial and Pharmacokinetic Study of Talabostat (PT-100, Val-Boro-Pro) in Combination With Temozolomide or Carboplatin in Pediatric Patients With Relapsed or Refractory Solid Tumors Including Brain Tumors Completed NCT00303940 Phase 1 carboplatin;talabostat mesylate;temozolomide
48 TREATMENT OF CHILDREN AND YOUNG ADULTS WITH RECURRENT/REFRACTORY SOLID TUMORS WITH HIGH DOSE ETOPOSIDE AND CARBOPLATIN PLUS ESCALATING DOSE CYCLOPHOSPHAMIDE, FOLLOWED BY HEMATOPOIETIC RESCUE USING AUTOLOGOUS CD34+ SELECTED BLOOD STEM CELLS: A PILOT STUDY Completed NCT00007813 Phase 1 carboplatin;cyclophosphamide;etoposide
49 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
50 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

Search NIH Clinical Center for Rhabdoid Tumor Predisposition Syndrome 1

Cochrane evidence based reviews: rhabdoid tumor

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 Tumor 29
4 Rhabdoid Tumors, Somatic 29

Anatomical Context for Rhabdoid Tumor Predisposition Syndrome 1

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

40
Brain, Kidney, Liver, T Cells, Testes, Pineal, Lung

Publications for Rhabdoid Tumor Predisposition Syndrome 1

Articles related to Rhabdoid Tumor Predisposition Syndrome 1:

(show top 50) (show all 1341)
# Title Authors PMID Year
1
Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. 56 6 61 54
10739763 2000
2
Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. 6 61 56
10521299 1999
3
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. 6 56
19124645 2009
4
Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. 6 56
9671307 1998
5
Rhabdoid Tumor Predisposition Syndrome 61 6
29215836 2017
6
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. 61 56
15378398 2004
7
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. 61 56
9737241 1998
8
Narrowing the critical region for a rhabdoid tumor locus in 22q11. 56 61
8818656 1996
9
Characterization of a pineal region malignant rhabdoid tumor. Towards understanding brain tumor cell invasion. 61 56
7619721 1995
10
The clinicopathologic spectrum of putative extrarenal rhabdoid tumors. An analysis of 42 cases studied with immunohistochemistry or electron microscopy. 56 61
8092393 1994
11
Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor. 56 61
1381945 1992
12
Malignant rhabdoid tumor: a highly malignant childhood tumor with minimal karyotypic changes. 61 56
1964081 1990
13
Rhabdoid tumor of kidney. A report of 111 cases from the National Wilms' Tumor Study Pathology Center. 61 56
2543225 1989
14
The association of embryonal tumors originating in the kidney and in the brain. A report of seven cases. 61 56
6091860 1984
15
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
16
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 6
24493721 2014
17
Monosomy 22 in rhabdoid or atypical tumors of the brain. 56
2213160 1990
18
Histopathology and prognosis of Wilms tumors: results from the First National Wilms' Tumor Study. 56
206343 1978
19
Rhabdoid tumor: gene expression clues to pathogenesis and potential therapeutic targets. 54 61
20212451 2010
20
Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. 61 54
19902524 2010
21
Rare intraparenchymal choroid plexus carcinoma resembling atypical teratoid/rhabdoid tumor diagnosed by immunostaining for INI1 protein. 54 61
19795969 2009
22
Epithelioid sarcoma of the parotid gland of a child. 61 54
19335024 2009
23
Urothelial carcinoma of the renal pelvis with rhabdoid features. 61 54
19432675 2009
24
Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas. 54 61
18997735 2009
25
Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior. 54 61
18327209 2008
26
BCR expression is decreased in meningiomas showing loss of heterozygosity of 22q within a new minimal deletion region. 54 61
18474292 2008
27
Uterine neoplasms composed of rhabdoid cells do not exhibit loss of INI1 immunoreactivity and are not related to childhood malignant rhabdoid tumor. 61 54
18317218 2008
28
High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. 54 61
17541642 2007
29
Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. 61 54
17603804 2007
30
Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium. 61 54
17376508 2007
31
New immunohistochemical markers in the evaluation of central nervous system tumors: a review of 7 selected adult and pediatric brain tumors. 61 54
17284108 2007
32
Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. 54 61
16261613 2006
33
Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. 61 54
16206192 2006
34
Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis. 54 61
16528370 2006
35
Loss of the hSNF5 gene concomitantly inactivates p21CIP/WAF1 and p16INK4a activity associated with replicative senescence in A204 rhabdoid tumor cells. 61 54
16288006 2005
36
INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas. 54 61
15761491 2005
37
Pediatric embryonal tumor of the cerebellum with rhabdoid cells and novel intracytoplasmic inclusions: distinction from atypical teratoid/rhabdoid tumor. 61 54
15965700 2005
38
Increased expression of osteopontin gene in atypical teratoid/rhabdoid tumor of the central nervous system. 61 54
15776015 2005
39
INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma. 54 61
15892296 2005
40
Elevation of plasma and cerebrospinal fluid osteopontin levels in patients with atypical teratoid/rhabdoid tumor. 61 54
15842057 2005
41
Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. 61 54
15489652 2004
42
Malignant rhabdoid tumor arising from a pleomorphic adenoma. 61 54
15185263 2004
43
Gastrointestinal stromal tumor of the stomach with rhabdoid phenotype: immunohistochemical, ultrastructural, and immunoelectron microscopic evaluation. 54 61
15471430 2004
44
P16INK4a is required for hSNF5 chromatin remodeler-induced cellular senescence in malignant rhabdoid tumor cells. 61 54
14604992 2004
45
Alpha-internexin expression in medulloblastomas and atypical teratoid-rhabdoid tumors. 61 54
14531545 2003
46
Neuroendocrine carcinomas of the pancreas with 'Rhabdoid' features. 61 54
12717248 2003
47
INI1 expression induces cell cycle arrest and markers of senescence in malignant rhabdoid tumor cells. 61 54
12548550 2003
48
A single-nucleotide polymorphism of SMARCB1 in human breast cancers. 61 54
12213194 2002
49
Subcellular distribution of cytokeratin and vimentin in malignant rhabdoid tumor: three-dimensional imaging with confocal laser scanning microscopy and double immunofluorescence. 61 54
11557780 2001
50
[Atypical teratoid and rhabdoid tumor. Report of a congenital case]. 54 61
11468564 2001

Variations for Rhabdoid Tumor Predisposition Syndrome 1

ClinVar genetic disease variations for Rhabdoid Tumor Predisposition Syndrome 1:

6 (show top 50) (show all 97) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMARCB1 NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs)deletion Pathogenic 410704 rs1060503017 22:24167585-24167592 22:23825398-23825405
2 SMARCB1 NM_003073.5(SMARCB1):c.118C>T (p.Arg40Ter)SNV Pathogenic 410698 rs1060503015 22:24133967-24133967 22:23791780-23791780
3 SMARCB1 NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter)SNV Pathogenic 410703 rs1060503016 22:24134001-24134001 22:23791814-23791814
4 SMARCB1 NC_000022.11:g.(?_23787164)_(23834186_?)deldeletion Pathogenic 464313 22:24129351-24176373 22:23787164-23834186
5 SMARCB1 NM_003073.5(SMARCB1):c.137_140dup (p.Tyr47Ter)duplication Pathogenic 464322 rs1555875892 22:24133984-24133985 22:23791797-23791798
6 SMARCB1 NM_003073.5(SMARCB1):c.184A>T (p.Lys62Ter)SNV Pathogenic 464323 rs1555875917 22:24134033-24134033 22:23791846-23791846
7 SMARCB1 NM_003073.5(SMARCB1):c.501-1G>CSNV Pathogenic 464328 rs1555877276 22:24145481-24145481 22:23803294-23803294
8 SMARCB1 NM_003073.5(SMARCB1):c.1118+1G>ASNV Pathogenic 464317 rs1555881586 22:24175891-24175891 22:23833704-23833704
9 SMARCB1 NC_000022.11:g.(?_23793553)_(23793694_?)deldeletion Pathogenic 464316 22:24135740-24135881 22:23793553-23793694
10 SMARCB1 NM_003073.5(SMARCB1):c.362+1G>ASNV Pathogenic 582116 rs1568937197 22:24135876-24135876 22:23793689-23793689
11 SMARCB1 NM_003073.5(SMARCB1):c.351del (p.Thr118fs)deletion Pathogenic 692027 22:24135859-24135859 22:23793672-23793672
12 SMARCB1 NM_003073.5(SMARCB1):c.812del (p.Gly271fs)deletion Pathogenic 695025 22:24167426-24167426 22:23825239-23825239
13 SMARCB1 NM_003073.5(SMARCB1):c.951del (p.Gln318fs)deletion Pathogenic 8022 rs587776677 22:24167567-24167567 22:23825380-23825380
14 SMARCB1 SMARCB1, 19-BP DELdeletion Pathogenic 8023
15 SMARCB1 NM_003073.5(SMARCB1):c.591del (p.Gln198fs)deletion Pathogenic 8024 rs587776678 22:24145570-24145570 22:23803383-23803383
16 SMARCB1 NM_003073.5(SMARCB1):c.986+1G>ASNV Pathogenic 8025 22:24167603-24167603 22:23825416-23825416
17 SMARCB1 NM_003073.4(SMARCB1):c.629-361_795+2103dupduplication Pathogenic 8030 22:23816409-23819039
18 TP53 NM_000546.6(TP53):c.733G>A (p.Gly245Ser)SNV Pathogenic 12365 rs28934575 17:7577548-7577548 17:7674230-7674230
19 SMARCB1 NM_003073.5(SMARCB1):c.*82C>TSNV Pathogenic 239481 rs878854600 22:24176449-24176449 22:23834262-23834262
20 SMARCB1 NM_003073.5(SMARCB1):c.1070C>T (p.Thr357Ile)SNV Likely pathogenic 580796 rs1555881567 22:24175842-24175842 22:23833655-23833655
21 SMARCB1 NM_003073.5(SMARCB1):c.233-2A>GSNV Likely pathogenic 581570 rs1568937087 22:24135744-24135744 22:23793557-23793557
22 SMARCB1 NC_000022.11:g.(?_23833566)_(23834186_?)deldeletion Likely pathogenic 532988 22:24175753-24176373 22:23833566-23834186
23 SMARCB1 NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)SNV Conflicting interpretations of pathogenicity 532975 rs145695677 22:24135822-24135822 22:23793635-23793635
24 SMARCB1 NM_003073.5(SMARCB1):c.1059G>A (p.Leu353=)SNV Conflicting interpretations of pathogenicity 578275 rs1568962989 22:24175831-24175831 22:23833644-23833644
25 SMARCB1 NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=)SNV Conflicting interpretations of pathogenicity 416325 rs149451748 22:24175804-24175804 22:23833617-23833617
26 SMARCB1 NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)SNV Conflicting interpretations of pathogenicity 410706 rs779769475 22:24134007-24134007 22:23791820-23791820
27 SMARCB1 NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)SNV Conflicting interpretations of pathogenicity 340914 rs752910574 22:24159051-24159051 22:23816864-23816864
28 SMARCB1 NM_003073.5(SMARCB1):c.-17C>TSNV Conflicting interpretations of pathogenicity 340911 rs372777519 22:24129340-24129340 22:23787153-23787153
29 SMARCB1 NM_003073.5(SMARCB1):c.987-4G>CSNV Uncertain significance 340915 rs745773662 22:24175755-24175755 22:23833568-23833568
30 SMARCB1 NM_003073.5(SMARCB1):c.*279G>ASNV Uncertain significance 340921 rs886057287 22:24176646-24176646 22:23834459-23834459
31 SMARCB1 NM_003073.5(SMARCB1):c.-107A>GSNV Uncertain significance 340910 rs886057284 22:24129250-24129250 22:23787063-23787063
32 SMARCB1 NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)SNV Uncertain significance 340912 rs762962010 22:24145588-24145588 22:23803401-23803401
33 SMARCB1 NM_003073.5(SMARCB1):c.-157G>ASNV Uncertain significance 340905 rs886057281 22:24129200-24129200 22:23787013-23787013
34 SMARCB1 NM_003073.5(SMARCB1):c.-148T>CSNV Uncertain significance 340907 rs886057283 22:24129209-24129209 22:23787022-23787022
35 SMARCB1 NM_003073.5(SMARCB1):c.*12_*14dupduplication Uncertain significance 340916 rs779825754 22:24176376-24176377 22:23834189-23834190
36 SMARCB1 NM_003073.5(SMARCB1):c.*113C>TSNV Uncertain significance 340920 rs886057286 22:24176480-24176480 22:23834293-23834293
37 SMARCB1 NM_003073.5(SMARCB1):c.-149C>TSNV Uncertain significance 340906 rs886057282 22:24129208-24129208 22:23787021-23787021
38 SMARCB1 NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn)SNV Uncertain significance 198489 rs769322487 22:24167504-24167504 22:23825317-23825317
39 SMARCB1 NM_003073.4(SMARCB1):c.-207-?_*338dup1703duplication Uncertain significance 239480 22:24129150-24176705 22:23786963-23834518
40 SMARCB1 NM_003073.4(SMARCB1):c.987-?_*338dup510duplication Uncertain significance 239486 22:24175759-24176705 22:23833572-23834518
41 SMARCB1 NM_003073.5(SMARCB1):c.946C>T (p.Arg316Trp)SNV Uncertain significance 464341 rs769023941 22:24167562-24167562 22:23825375-23825375
42 SMARCB1 NM_003073.5(SMARCB1):c.469G>T (p.Gly157Cys)SNV Uncertain significance 570203 rs1568941668 22:24143237-24143237 22:23801050-23801050
43 SMARCB1 NM_003073.5(SMARCB1):c.790A>G (p.Ile264Val)SNV Uncertain significance 580688 rs887245809 22:24159118-24159118 22:23816931-23816931
44 BRCA2 NM_000059.3(BRCA2):c.9503_9506delinsTAAG (p.Asn3168_Ile3169delinsIleSer)indel Uncertain significance 620616 rs1566260060 13:32971036-32971039 13:32396899-32396902
45 SMARCB1 NM_003073.5(SMARCB1):c.538G>A (p.Ala180Thr)SNV Uncertain significance 566524 rs1568943183 22:24145519-24145519 22:23803332-23803332
46 SMARCB1 NM_003073.5(SMARCB1):c.673G>T (p.Asp225Tyr)SNV Uncertain significance 581167 rs768379745 22:24159001-24159001 22:23816814-23816814
47 SMARCB1 NM_003073.5(SMARCB1):c.-83C>TSNV Uncertain significance 903043 22:24129274-24129274 22:23787087-23787087
48 SMARCB1 NM_003073.5(SMARCB1):c.633G>A (p.Lys211=)SNV Uncertain significance 900547 22:24158961-24158961 22:23816774-23816774
49 SMARCB1 NM_003073.5(SMARCB1):c.*100C>GSNV Uncertain significance 903097 22:24176467-24176467 22:23834280-23834280
50 SMARCB1 NM_003073.5(SMARCB1):c.*159C>GSNV Uncertain significance 899471 22:24176526-24176526 22:23834339-23834339

Cosmic variations for Rhabdoid Tumor Predisposition Syndrome 1:

9 (show top 50) (show all 73)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87898351 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
2 COSM87897832 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
3 COSM87898444 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
4 COSM90107666 SMARCB1 central nervous system,choroid plexus,other,choroid plexus carcinoma c.206-1G>C p.? 22:23793558-23793558 6
5 COSM145017746 central nervous system,choroid plexus,other,choroid plexus carcinoma c.419A>G p.H140R 17:7675076-7675076 6
6 COSM142837411 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
7 COSM105619974 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
8 COSM122734244 central nervous system,choroid plexus,other,choroid plexus carcinoma c.140A>G p.H47R 17:7675076-7675076 6
9 COSM151738522 central nervous system,choroid plexus,other,choroid plexus carcinoma c.233-1G>C p.? 22:23793558-23793558 6
10 COSM143943797 central nervous system,choroid plexus,other,choroid plexus carcinoma c.266G>A p.R89Q 17:7674220-7674220 6
11 COSM144310268 central nervous system,choroid plexus,other,choroid plexus carcinoma c.419A>G p.H140R 17:7675076-7675076 6
12 COSM144013178 central nervous system,choroid plexus,other,choroid plexus carcinoma c.692G>A p.C231Y 17:7674238-7674238 6
13 COSM142560362 central nervous system,choroid plexus,other,choroid plexus carcinoma c.419A>G p.H140R 17:7675076-7675076 6
14 COSM142837352 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
15 COSM143156889 central nervous system,choroid plexus,other,choroid plexus carcinoma c.59A>G p.H20R 17:7675076-7675076 6
16 COSM144651207 central nervous system,choroid plexus,other,choroid plexus carcinoma c.419A>G p.H140R 17:7675076-7675076 6
17 COSM143943866 central nervous system,choroid plexus,other,choroid plexus carcinoma c.59A>G p.H20R 17:7675076-7675076 6
18 COSM121875681 central nervous system,choroid plexus,other,choroid plexus carcinoma c.329G>A p.C110Y 17:7674238-7674238 6
19 COSM144651115 central nervous system,choroid plexus,other,choroid plexus carcinoma c.626G>A p.R209Q 17:7674220-7674220 6
20 COSM105620368 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
21 COSM93183388 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
22 COSM122271641 central nervous system,choroid plexus,other,choroid plexus carcinoma c.140A>G p.H47R 17:7675076-7675076 6
23 COSM111758330 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
24 COSM122734176 central nervous system,choroid plexus,other,choroid plexus carcinoma c.347G>A p.R116Q 17:7674220-7674220 6
25 COSM142560004 central nervous system,choroid plexus,other,choroid plexus carcinoma c.608G>A p.C203Y 17:7674238-7674238 6
26 COSM143156843 central nervous system,choroid plexus,other,choroid plexus carcinoma c.266G>A p.R89Q 17:7674220-7674220 6
27 COSM105620276 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
28 COSM112253180 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
29 COSM143370947 central nervous system,choroid plexus,other,choroid plexus carcinoma c.419A>G p.H140R 17:7675076-7675076 6
30 COSM111758576 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
31 COSM122733935 central nervous system,choroid plexus,other,choroid plexus carcinoma c.329G>A p.C110Y 17:7674238-7674238 6
32 COSM122271350 central nervous system,choroid plexus,other,choroid plexus carcinoma c.329G>A p.C110Y 17:7674238-7674238 6
33 COSM106053002 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
34 COSM93183717 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
35 COSM112253622 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
36 COSM106053189 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
37 COSM85812649 central nervous system,choroid plexus,other,choroid plexus carcinoma c.233-1G>C p.? 22:23793558-23793558 6
38 COSM144087017 central nervous system,choroid plexus,other,choroid plexus carcinoma c.248G>A p.C83Y 17:7674238-7674238 6
39 COSM121876067 central nervous system,choroid plexus,other,choroid plexus carcinoma c.140A>G p.H47R 17:7675076-7675076 6
40 COSM93183630 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
41 COSM106053255 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
42 COSM144087106 central nervous system,choroid plexus,other,choroid plexus carcinoma c.266G>A p.R89Q 17:7674220-7674220 6
43 COSM112253686 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
44 COSM145017657 central nervous system,choroid plexus,other,choroid plexus carcinoma c.626G>A p.R209Q 17:7674220-7674220 6
45 COSM143943616 central nervous system,choroid plexus,other,choroid plexus carcinoma c.248G>A p.C83Y 17:7674238-7674238 6
46 COSM144310004 central nervous system,choroid plexus,other,choroid plexus carcinoma c.608G>A p.C203Y 17:7674238-7674238 6
47 COSM121875983 central nervous system,choroid plexus,other,choroid plexus carcinoma c.347G>A p.R116Q 17:7674220-7674220 6
48 COSM143370664 central nervous system,choroid plexus,other,choroid plexus carcinoma c.608G>A p.C203Y 17:7674238-7674238 6
49 COSM111758646 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
50 COSM105072953 central nervous system,choroid plexus,other,choroid plexus carcinoma c.206-1G>C p.? 22:23793558-23793558 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 12.11 VIM MUC1 DES ACTC1
2 11.64 VIM TP53 MUC1
3 11.59 TP53 IGF2 IGF1R
4 11.19 VIM DES ACTC1
5 11 SPP1 PTPRC MYOD1 DES ALPP
6 10.94 SPP1 IGF2 IGF1R
7 10.56 VIM SPP1 IGF2 IGF1R DES

GO Terms for Rhabdoid Tumor Predisposition Syndrome 1

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 MAPK cascade GO:0043410 9.61 PTPRC IGF2 IGF1R
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.5 TP53 PTPRC IGF2
3 myotube differentiation GO:0014902 9.4 STIM1 MYOD1
4 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.37 TP53 MUC1
5 bone marrow development GO:0048539 9.26 TP53 PTPRC
6 positive regulation of transcription from RNA polymerase II promoter in response to stress GO:0036003 9.16 TP53 MUC1
7 positive regulation of histone H4 acetylation GO:0090240 8.96 SMARCB1 MUC1
8 muscle filament sliding GO:0030049 8.8 VIM DES ACTC1

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 8.8 TP53 SMARCB1 MUC1

Sources for Rhabdoid Tumor Predisposition Syndrome 1

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