MCID: RHB008
MIFTS: 36

Rhabdoid Tumor Predisposition Syndrome 1

Categories: Genetic 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 75 29 6 73
Malignant Rhabdoid Tumor, Somatic 29 6
Rhabdoid Tumor 75 73
Rtps1 57 75
Brain Tumor, Posterior Fossa, of Infancy, Familial 57
Tumor, Rhabdoid, Predisposition Syndrome, Type 1 40
Atypical Teratoid Rhabdoid Tumor 59
Atypical Teratoid/rhabdoid Tumor 73
Malignant Rhabdoid Tumor Somatic 75
Rhabdoid Tumors, Somatic 57
Teratoid Tumor, Atypical 73
Atypical Teratoid Tumor 75
Atrt 59
Mrt 75
Rdt 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal dominant

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


HPO:

32
rhabdoid tumor predisposition syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 609322
Orphanet 59 ORPHA99966
ICD10 via Orphanet 34 C49.9
MeSH 44 D018335

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)

MalaCards based summary : Rhabdoid Tumor Predisposition Syndrome 1, also known as malignant rhabdoid tumor, somatic, is related to tumor predisposition syndrome and rhabdoid cancer. 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). The drugs Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and liver, and related phenotypes are hydrocephalus and macrocephaly

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 tumor predisposition syndrome 28.4 DERL3 SMARCB1
2 rhabdoid cancer 11.7
3 rhabdoid tumor predisposition syndrome 2 11.0
4 malaria 9.9
5 toxoplasmosis 9.9
6 atypical teratoid rhabdoid tumor 9.9

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

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
medulloblastoma
rhabdoid tumors, malignant (renal or extrarenal)
atypical teratoid tumors
choroid plexus carcinoma


Clinical features from OMIM:

609322

Human phenotypes related to Rhabdoid Tumor Predisposition Syndrome 1:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 Frequent (79-30%)
2 macrocephaly 59 Frequent (79-30%)
3 irritability 59 Very frequent (99-80%)
4 apathy 59 Very frequent (99-80%)
5 seizures 59 Frequent (79-30%)
6 ataxia 59 Frequent (79-30%)
7 muscle weakness 59 Frequent (79-30%)
8 limitation of joint mobility 59 Frequent (79-30%)
9 nausea and vomiting 59 Very frequent (99-80%)
10 migraine 59 Frequent (79-30%)
11 cerebral calcification 59 Occasional (29-5%)
12 reduced consciousness/confusion 59 Frequent (79-30%)
13 hemiplegia/hemiparesis 59 Frequent (79-30%)
14 cranial nerve paralysis 59 Occasional (29-5%)
15 cerebral palsy 59 Occasional (29-5%)
16 malignant neoplasm of the central nervous system 59 Very frequent (99-80%)
17 medulloblastoma 32 HP:0002885
18 choroid plexus carcinoma 32 HP:0030392

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 153)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 41575-94-4 10339178 498142 38904
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 50-18-0, 6055-19-2 2907
3
Etoposide Approved Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable 33419-42-0 36462
4
Melphalan Approved Phase 2, Phase 3,Phase 1,Not Applicable 148-82-3 4053 460612
5
Thiotepa Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 52-24-4 5453
6
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
7
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
8
Methotrexate Approved Phase 3,Phase 2,Phase 1,Early Phase 1 1959-05-2, 59-05-2 126941
9
Temozolomide Approved, Investigational Phase 3,Phase 2,Phase 1 85622-93-1 5394
10
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
11
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 2019 457193
12
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
13
Sulfamethoxazole Approved Phase 3 723-46-6 5329
14
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
15
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
16
Levoleucovorin Approved, Investigational Phase 3,Phase 2,Early Phase 1 68538-85-2
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
18
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Phase 1,Early Phase 1 58-05-9 143 6006
19
Doxil Approved June 1999 Phase 3,Phase 2 31703
20 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
21 Etoposide phosphate Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable
22 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable
23 Antimetabolites Phase 3,Phase 2,Phase 1,Early Phase 1
24 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Early Phase 1
25 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
26 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
27 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
28 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
29 Dermatologic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
30 Folic Acid Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
31 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
32 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
33 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
34 Vitamin B Complex Phase 3,Phase 2,Phase 1,Early Phase 1
35 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1,Not Applicable
36 Liver Extracts Phase 3,Phase 1,Phase 2,Not Applicable
37 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
38 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
39 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
40 Anti-Infective Agents Phase 3,Phase 2,Phase 1
41 Adjuvants, Anesthesia Phase 3
42 Analgesics Phase 3
43 Analgesics, Opioid Phase 3
44 Anesthetics Phase 3
45 Anesthetics, General Phase 3
46 Anesthetics, Intravenous Phase 3
47 Central Nervous System Depressants Phase 3
48 Narcotics Phase 3
49 Peripheral Nervous System Agents Phase 3,Phase 1
50 Antidotes Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 88)
# Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for High Risk Central Nervous System (CNS) Tumors Unknown status NCT00179803 Phase 2, Phase 3
2 Combination Chemotherapy With or Without Etoposide Followed By an Autologous Stem Cell Transplant in Treating Young Patients With Previously Untreated Malignant Brain Tumors Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
3 Chemotherapy With or Without Surgery, Radiation Therapy, or Stem Cell Transplantation in Treating Young Patients With Kidney Tumors Completed NCT00002610 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
4 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Completed NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
5 Combination Chemotherapy Followed by Second-Look Surgery and Radiation Therapy in Treating Children With Nonmetastatic Medulloblastoma or Primitive Neuroectodermal Tumor Completed NCT00006461 Phase 3 cisplatin;cyclophosphamide;vincristine sulfate;etoposide
6 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
7 Combination Chemotherapy Alone or With Radiation Therapy in Treating Children With Kidney Cancer Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
8 Combination Chemotherapy, Radiation Therapy, and an Autologous Peripheral Blood Stem Cell Transplant in Treating Young Patients With Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System Active, not recruiting NCT00653068 Phase 3 methotrexate;leucovorin calcium;etoposide;cyclophosphamide;cisplatin;carboplatin;thiotepa;vincristine sulfate
9 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
10 Oxaliplatin in Treating Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Completed NCT00047177 Phase 2 Oxaliplatin
11 Chemotherapy Combined With Radiation Therapy for Newly Diagnosed CNS AT/RT Completed NCT00084838 Phase 2 cisplatin;cyclophosphamide;cytarabine;dexrazoxane hydrochloride;doxorubicin hydrochloride;etoposide;leucovorin calcium;methotrexate;temozolomide;therapeutic hydrocortisone;vincristine sulfate;Dactinomycin
12 Combination Chemotherapy, Radiation Therapy, and/or Surgery in Treating Patients With High-Risk Kidney Tumors Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
13 Chemotherapy in Treating Patients With Solid Tumors Completed NCT00003103 Phase 1, Phase 2 docetaxel
14 Phase 2 Study of Alisertib Therapy for Rhabdoid Tumors Recruiting NCT02114229 Phase 2 alisertib;methotrexate;cisplatin;carboplatin;cyclophosphamide;etoposide;topotecan;vincristine
15 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Recruiting NCT02581384 Phase 1, Phase 2
16 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
17 Phase II Study of Intraventricular Methotrexate in Children With Recurrent or Progressive Malignant Brain Tumors Recruiting NCT02684071 Phase 2 Intra thecal methotrexate;topotecan;cyclophosphamide
18 Tazemetostat Rollover Study (TRuST): An Open-Label Rollover Study Recruiting NCT02875548 Phase 2 Tazemetostat
19 Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03526250 Phase 2 Palbociclib
20 Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03233204 Phase 2 Olaparib
21 Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03220035 Phase 2 Vemurafenib
22 Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial) Recruiting NCT03213704 Phase 2 Larotrectinib
23 PI3K/mTOR Inhibitor LY3023414 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03213678 Phase 2 PI3K/mTOR Inhibitor LY3023414
24 Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03210714 Phase 2 Erdafitinib
25 Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Vemurafenib
26 Dasatinib, Ifosfamide, Carboplatin, and Etoposide in Treating Young Patients With Metastatic or Recurrent Malignant Solid Tumors Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
27 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
28 Crizotinib in Treating Young Patients With Relapsed or Refractory Solid Tumors or Anaplastic Large Cell Lymphoma Active, not recruiting NCT00939770 Phase 1, Phase 2 crizotinib
29 Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer Active, not recruiting NCT00445965 Phase 2
30 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Immunogenicity, and Preliminary Efficacy of Atezolizumab (Anti-Programmed Death-Ligand 1 [PD-L1] Antibody) in Pediatric and Young Adult Participants With Solid Tumors Active, not recruiting NCT02541604 Phase 1, Phase 2 Atezolizumab
31 Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial) Suspended NCT03213665 Phase 2 Tazemetostat
32 Melphalan, Carboplatin, Mannitol, and Sodium Thiosulfate in Treating Patients With Recurrent or Progressive CNS Embryonal or Germ Cell Tumors Suspended NCT00983398 Phase 1, Phase 2 Carboplatin;Mannitol;Melphalan;Sodium Thiosulfate
33 Antineoplaston Therapy in Treating Children With Rhabdoid Tumor of the Central Nervous System Terminated NCT00003469 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
34 Peripheral Stem Cell Transplantation Plus Chemotherapy in Treating Patients With Malignant Solid Tumors Unknown status NCT00007813 Phase 1 carboplatin;cyclophosphamide;etoposide
35 Study of Safety and Efficacy in Patients With Malignant Rhabdoid Tumors (MRT) and Neuroblastoma Completed NCT01747876 Phase 1 LEE011
36 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
37 ABT-888 and Temozolomide in Treating Young Patients With Recurrent or Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
38 AZD2171 in Treating Young Patients With Recurrent, Progressive, or Refractory Primary CNS Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
39 Lenalidomide in Treating Young Patients With Recurrent, Progressive, or Refractory CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
40 Vorinostat With or Without Isotretinoin in Treating Young Patients With Recurrent or Refractory Solid Tumors, Lymphoma, or Leukemia Completed NCT00217412 Phase 1 vorinostat;isotretinoin
41 Thalidomide and Docetaxel in Treating Patients With Advanced Cancer Completed NCT00049296 Phase 1 docetaxel;thalidomide
42 Talabostat Combined With Temozolomide or Carboplatin in Treating Young Patients With Relapsed or Refractory Brain Tumors or Other Solid Tumors Completed NCT00303940 Phase 1 carboplatin;talabostat mesylate;temozolomide
43 Temozolomide, Vincristine, and Irinotecan in Treating Young Patients With Refractory Solid Tumors Completed NCT00138216 Phase 1 irinotecan hydrochloride;temozolomide;vincristine sulfate
44 Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Infants With Malignant Brain or Spinal Cord Tumors Completed NCT00003141 Phase 1 carboplatin;cisplatin;cyclophosphamide;etoposide;thiotepa;vincristine sulfate
45 Chemotherapy and Stem Cell Transplantation in Treating Children With Central Nervous System Cancer Completed NCT00053118 Phase 1 carboplatin;etoposide
46 SCH 66336 in Treating Children With Recurrent or Progressive Brain Tumors Completed NCT00015899 Phase 1 lonafarnib
47 p28 in Treating Younger Patients With Recurrent or Progressive Central Nervous System Tumors Completed NCT01975116 Phase 1 azurin-derived cell-penetrating peptide p28
48 Modified Measles Virus (MV-NIS) for Children and Young Adults With Recurrent Medulloblastoma or Recurrent ATRT Recruiting NCT02962167 Phase 1
49 Methotrexate Infusion Into Fourth Ventricle in Children With Recurrent Malignant Fourth Ventricular Brain Tumors Recruiting NCT02458339 Phase 1 Methotrexate
50 SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib

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

Anatomical Context for Rhabdoid Tumor Predisposition Syndrome 1

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

41
Brain, Kidney, Liver, Spinal Cord, T Cells, Myeloid, Testes

Publications for Rhabdoid Tumor Predisposition Syndrome 1

Articles related to Rhabdoid Tumor Predisposition Syndrome 1:

# Title Authors Year
1
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1. ( 29779243 )
2018

Variations for Rhabdoid Tumor Predisposition Syndrome 1

ClinVar genetic disease variations for Rhabdoid Tumor Predisposition Syndrome 1:

6
(show top 50) (show all 188)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCB1 NM_003073.4(SMARCB1): c.951delA (p.Gln318Serfs) deletion Pathogenic rs587776677 GRCh37 Chromosome 22, 24167567: 24167567
2 SMARCB1 NM_003073.4(SMARCB1): c.951delA (p.Gln318Serfs) deletion Pathogenic rs587776677 GRCh38 Chromosome 22, 23825380: 23825380
3 SMARCB1 SMARCB1, 19-BP DEL deletion Pathogenic
4 SMARCB1 NM_003073.4(SMARCB1): c.591delG (p.Gln198Argfs) deletion Pathogenic rs587776678 GRCh37 Chromosome 22, 24145572: 24145572
5 SMARCB1 NM_003073.4(SMARCB1): c.591delG (p.Gln198Argfs) deletion Pathogenic rs587776678 GRCh38 Chromosome 22, 23803385: 23803385
6 SMARCB1 SMARCB1, IVS7DS, G-A, +1 single nucleotide variant Pathogenic
7 SMARCB1 NM_003073.4(SMARCB1): c.629-361_795+2103dup duplication Pathogenic GRCh38 Chromosome 22, 23816409: 23819039
8 SMARCB1 NM_003073.4(SMARCB1): c.1091_1093delAGA (p.Lys364del) deletion Pathogenic/Likely pathogenic rs875989800 GRCh38 Chromosome 22, 23833676: 23833678
9 SMARCB1 NM_003073.4(SMARCB1): c.1091_1093delAGA (p.Lys364del) deletion Pathogenic/Likely pathogenic rs875989800 GRCh37 Chromosome 22, 24175863: 24175865
10 SMARCB1 NM_003073.4(SMARCB1): c.606C> T (p.Asp202=) single nucleotide variant Likely benign rs727504163 GRCh37 Chromosome 22, 24145587: 24145587
11 SMARCB1 NM_003073.4(SMARCB1): c.606C> T (p.Asp202=) single nucleotide variant Likely benign rs727504163 GRCh38 Chromosome 22, 23803400: 23803400
12 SMARCB1 NM_003073.4(SMARCB1): c.585C> T (p.Ile195=) single nucleotide variant Conflicting interpretations of pathogenicity rs757546528 GRCh37 Chromosome 22, 24145566: 24145566
13 SMARCB1 NM_003073.4(SMARCB1): c.585C> T (p.Ile195=) single nucleotide variant Conflicting interpretations of pathogenicity rs757546528 GRCh38 Chromosome 22, 23803379: 23803379
14 SMARCB1 NM_003073.4(SMARCB1): c.888G> T (p.Lys296Asn) single nucleotide variant Uncertain significance rs769322487 GRCh37 Chromosome 22, 24167504: 24167504
15 SMARCB1 NM_003073.4(SMARCB1): c.888G> T (p.Lys296Asn) single nucleotide variant Uncertain significance rs769322487 GRCh38 Chromosome 22, 23825317: 23825317
16 SMARCB1 NM_003073.4(SMARCB1): c.-207-?_*338dup1703 duplication Uncertain significance GRCh37 Chromosome 22, 24129150: 24176705
17 SMARCB1 NM_003073.4(SMARCB1): c.-207-?_*338dup1703 duplication Uncertain significance GRCh38 Chromosome 22, 23786963: 23834518
18 SMARCB1 NM_003073.4(SMARCB1): c.987-?_*338dup510 duplication Uncertain significance GRCh38 Chromosome 22, 23833572: 23834518
19 SMARCB1 NM_003073.4(SMARCB1): c.987-?_*338dup510 duplication Uncertain significance GRCh37 Chromosome 22, 24175759: 24176705
20 SMARCB1 NM_003073.4(SMARCB1): c.267C> T (p.Thr89=) single nucleotide variant Benign/Likely benign rs141275968 GRCh38 Chromosome 22, 23793593: 23793593
21 SMARCB1 NM_003073.4(SMARCB1): c.267C> T (p.Thr89=) single nucleotide variant Benign/Likely benign rs141275968 GRCh37 Chromosome 22, 24135780: 24135780
22 SMARCB1 NM_003073.4(SMARCB1): c.362+7C> T single nucleotide variant Benign/Likely benign rs34746244 GRCh37 Chromosome 22, 24135882: 24135882
23 SMARCB1 NM_003073.4(SMARCB1): c.362+7C> T single nucleotide variant Benign/Likely benign rs34746244 GRCh38 Chromosome 22, 23793695: 23793695
24 SMARCB1 NM_003073.4(SMARCB1): c.438A> G (p.Pro146=) single nucleotide variant Benign rs35105793 GRCh37 Chromosome 22, 24143206: 24143206
25 SMARCB1 NM_003073.4(SMARCB1): c.438A> G (p.Pro146=) single nucleotide variant Benign rs35105793 GRCh38 Chromosome 22, 23801019: 23801019
26 SMARCB1 NM_003073.4(SMARCB1): c.897G> T (p.Ser299=) single nucleotide variant Likely benign rs2229354 GRCh38 Chromosome 22, 23825326: 23825326
27 SMARCB1 NM_003073.4(SMARCB1): c.897G> T (p.Ser299=) single nucleotide variant Likely benign rs2229354 GRCh37 Chromosome 22, 24167513: 24167513
28 SMARCB1 NM_003073.4(SMARCB1): c.*82C> T single nucleotide variant Pathogenic rs878854600 GRCh38 Chromosome 22, 23834262: 23834262
29 SMARCB1 NM_003073.4(SMARCB1): c.*82C> T single nucleotide variant Pathogenic rs878854600 GRCh37 Chromosome 22, 24176449: 24176449
30 SMARCB1 NM_003073.4(SMARCB1): c.1131T> C (p.Arg377=) single nucleotide variant Benign/Likely benign rs144863210 GRCh37 Chromosome 22, 24176340: 24176340
31 SMARCB1 NM_003073.4(SMARCB1): c.1131T> C (p.Arg377=) single nucleotide variant Benign/Likely benign rs144863210 GRCh38 Chromosome 22, 23834153: 23834153
32 SMARCB1 NM_003073.4(SMARCB1): c.607G> A (p.Ala203Thr) single nucleotide variant Uncertain significance rs762962010 GRCh38 Chromosome 22, 23803401: 23803401
33 SMARCB1 NM_003073.4(SMARCB1): c.607G> A (p.Ala203Thr) single nucleotide variant Uncertain significance rs762962010 GRCh37 Chromosome 22, 24145588: 24145588
34 SMARCB1 NM_003073.4(SMARCB1): c.978C> T (p.Tyr326=) single nucleotide variant Likely benign rs187488637 GRCh37 Chromosome 22, 24167594: 24167594
35 SMARCB1 NM_003073.4(SMARCB1): c.978C> T (p.Tyr326=) single nucleotide variant Likely benign rs187488637 GRCh38 Chromosome 22, 23825407: 23825407
36 SMARCB1 NM_003073.4(SMARCB1): c.158G> T (p.Arg53Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs779769475 GRCh37 Chromosome 22, 24134007: 24134007
37 SMARCB1 NM_003073.4(SMARCB1): c.158G> T (p.Arg53Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs779769475 GRCh38 Chromosome 22, 23791820: 23791820
38 SMARCB1 NM_003073.4(SMARCB1): c.237C> T (p.His79=) single nucleotide variant Likely benign rs200394488 GRCh37 Chromosome 22, 24135750: 24135750
39 SMARCB1 NM_003073.4(SMARCB1): c.237C> T (p.His79=) single nucleotide variant Likely benign rs200394488 GRCh38 Chromosome 22, 23793563: 23793563
40 SMARCB1 NM_003073.4(SMARCB1): c.358C> T (p.Leu120Phe) single nucleotide variant Uncertain significance rs754350320 GRCh37 Chromosome 22, 24135871: 24135871
41 SMARCB1 NM_003073.4(SMARCB1): c.358C> T (p.Leu120Phe) single nucleotide variant Uncertain significance rs754350320 GRCh38 Chromosome 22, 23793684: 23793684
42 SMARCB1 NM_003073.4(SMARCB1): c.712G> A (p.Ala238Thr) single nucleotide variant Uncertain significance rs765514964 GRCh37 Chromosome 22, 24159040: 24159040
43 SMARCB1 NM_003073.4(SMARCB1): c.712G> A (p.Ala238Thr) single nucleotide variant Uncertain significance rs765514964 GRCh38 Chromosome 22, 23816853: 23816853
44 SMARCB1 NM_003073.4(SMARCB1): c.856_858delAAG (p.Lys286del) deletion Uncertain significance rs1060503020 GRCh38 Chromosome 22, 23825285: 23825287
45 SMARCB1 NM_003073.4(SMARCB1): c.856_858delAAG (p.Lys286del) deletion Uncertain significance rs1060503020 GRCh37 Chromosome 22, 24167472: 24167474
46 SMARCB1 NM_003073.4(SMARCB1): c.969_976delGAAGACCT (p.Lys324Argfs) deletion Pathogenic rs1060503017 GRCh38 Chromosome 22, 23825398: 23825405
47 SMARCB1 NM_003073.4(SMARCB1): c.969_976delGAAGACCT (p.Lys324Argfs) deletion Pathogenic rs1060503017 GRCh37 Chromosome 22, 24167585: 24167592
48 SMARCB1 NM_003073.4(SMARCB1): c.987C> T (p.Ser329=) single nucleotide variant Likely benign rs137942040 GRCh38 Chromosome 22, 23833572: 23833572
49 SMARCB1 NM_003073.4(SMARCB1): c.987C> T (p.Ser329=) single nucleotide variant Likely benign rs137942040 GRCh37 Chromosome 22, 24175759: 24175759
50 SMARCB1 NM_003073.4(SMARCB1): c.1149G> A (p.Pro383=) single nucleotide variant Conflicting interpretations of pathogenicity rs780103418 GRCh37 Chromosome 22, 24176358: 24176358

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

GO Terms for Rhabdoid Tumor Predisposition Syndrome 1

Sources for Rhabdoid Tumor Predisposition Syndrome 1

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