RTPS1
MCID: RHB008
MIFTS: 57

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 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


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 rhabdoid cancer and medulloblastoma. 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 Cervarix and Emend have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and kidney, and related phenotypes are nausea and vomiting and cranial nerve paralysis

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:

(show top 50) (show all 260)
# Related Disease Score Top Affiliating Genes
1 rhabdoid cancer 32.7 MYOD1 SMARCB1 SYP TP53 WT1
2 medulloblastoma 32.3 ACTC1 DES IGF1R IGF2 SMARCB1 SYP
3 wilms tumor 1 31.3 IGF1R IGF2 MYOD1 SMARCB1 TP53 WT1
4 ganglioglioma 30.9 SMARCB1 SYP TP53
5 epithelioid sarcoma 30.8 MUC1 SMARCB1 VIM
6 pleomorphic xanthoastrocytoma 30.8 SMARCB1 SYP TP53
7 cauda equina neoplasm 30.5 SYP WT1
8 ependymoma 30.5 MUC1 SYP VIM
9 chordoma 30.4 DES MUC1 SMARCB1 VIM
10 small cell carcinoma 30.4 PTPRC SYP TP53
11 kidney rhabdoid cancer 30.3 PTPRC SMARCB1 WT1
12 fibrous histiocytoma 30.2 ACTC1 DES VIM
13 histiocytoma 30.1 MYOD1 PTPRC TP53
14 beckwith-wiedemann syndrome 30.0 IGF2 MYOD1 STIM1 TP53 WT1
15 neurilemmoma 30.0 DES SMARCB1 VIM
16 uterine sarcoma 29.9 DES SMARCB1 WT1
17 pleomorphic adenoma 29.9 ACTC1 MUC1 TP53 VIM
18 ovarian small cell carcinoma 29.9 MUC1 SYP WT1
19 carcinosarcoma 29.7 ACTC1 DES MUC1 TP53 VIM
20 malignant fibroxanthoma 29.6 ACTC1 DES MUC1 MYOD1 PTPRC VIM
21 atypical teratoid rhabdoid tumor 29.5 IGF1R IGF2 SMARCB1 SPP1 SYP TP53
22 ewing sarcoma 29.4 DES IGF1R IGF2 MYOD1 PTPRC SYP
23 rhabdomyosarcoma 29.2 ACTC1 DES IGF1R IGF2 MYOD1 PTPRC
24 striated muscle rhabdoid tumor 12.1
25 rhabdoid tumor predisposition syndrome 2 11.1
26 malaria 10.6
27 sarcoma 10.4
28 ewing's family of tumors 10.4
29 ependymoblastoma 10.3 TP53 VIM
30 chordoid glioma 10.3 MUC1 TP53
31 endometrial mucinous adenocarcinoma 10.3 MUC1 VIM
32 clear cell meningioma 10.3 MUC1 VIM
33 myxopapillary ependymoma 10.3 MUC1 VIM
34 bile duct adenoma 10.3 MUC1 VIM
35 monophasic synovial sarcoma 10.3 MUC1 VIM
36 extraosseous chondrosarcoma 10.3 SMARCB1 SYP
37 non-langerhans-cell histiocytosis 10.3 ACTC1 DES
38 malignant teratoma 10.3 SYP TP53
39 pulmonary vein stenosis 10.3 ACTC1 DES
40 astroblastoma 10.3 SYP VIM
41 lymphangiectasis 10.3 ACTC1 VIM
42 pineoblastoma 10.3
43 choroid plexus cancer 10.3
44 pineal gland cancer 10.3
45 pineocytoma 10.3
46 horner's syndrome 10.3 DES MYOD1
47 malignant fibrous histiocytoma of bone 10.3 DES MYOD1
48 inflammatory leiomyosarcoma 10.3 DES MYOD1
49 infantile digital fibromatosis 10.3 DES VIM
50 mesenchymoma 10.3 DES MYOD1

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 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 59 32 frequent (33%) Very frequent (99-80%) HP:0002017
2 cranial nerve paralysis 59 32 frequent (33%) Occasional (29-5%) HP:0006824
3 irritability 59 32 frequent (33%) Very frequent (99-80%) HP:0000737
4 cerebral palsy 59 32 frequent (33%) Occasional (29-5%) HP:0100021
5 macrocephaly 59 Frequent (79-30%)
6 hydrocephalus 59 Frequent (79-30%)
7 hypertension 32 frequent (33%) HP:0000822
8 seizures 59 Frequent (79-30%)
9 ataxia 59 Frequent (79-30%)
10 muscle weakness 59 Frequent (79-30%)
11 respiratory insufficiency 32 frequent (33%) HP:0002093
12 cerebral calcification 59 Occasional (29-5%)
13 reduced consciousness/confusion 59 Frequent (79-30%)
14 fever 32 frequent (33%) HP:0001945
15 subcutaneous nodule 32 frequent (33%) HP:0001482
16 anemia 32 occasional (7.5%) HP:0001903
17 abdominal pain 32 frequent (33%) HP:0002027
18 weight loss 32 frequent (33%) HP:0001824
19 hemiplegia/hemiparesis 59 Frequent (79-30%)
20 limitation of joint mobility 59 Frequent (79-30%)
21 thrombocytopenia 32 occasional (7.5%) HP:0001873
22 migraine 59 Frequent (79-30%)
23 hematuria 32 frequent (33%) HP:0000790
24 neoplasm of the central nervous system 32 frequent (33%) HP:0100006
25 sarcoma 32 frequent (33%) HP:0100242
26 hypercalcemia 32 occasional (7.5%) HP:0003072
27 internal hemorrhage 32 frequent (33%) HP:0011029
28 headache 32 frequent (33%) HP:0002315
29 lymphadenopathy 32 frequent (33%) HP:0002716
30 hemiplegia 32 occasional (7.5%) HP:0002301
31 neoplasm of the liver 32 frequent (33%) HP:0002896
32 renal neoplasm 32 frequent (33%) HP:0009726
33 apathy 59 Very frequent (99-80%)
34 medulloblastoma 32 HP:0002885
35 oculomotor nerve palsy 32 frequent (33%) HP:0012246
36 poor appetite 32 frequent (33%) HP:0004396
37 malignant neoplasm of the central nervous system 59 Very frequent (99-80%)
38 choroid plexus carcinoma 32 HP:0030392

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

26 (show all 37)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.56 BCR SMARCB1 WT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.56 VIM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.56 ACTC1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.56 SMARCB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.56 IGF1R
6 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.56 BCR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.56 ACTC1 BCR SMARCB1 WT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.56 BCR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-127 10.56 IGF1R
10 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.56 VIM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.56 ACTC1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.56 WT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.56 BCR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.56 BCR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.56 IGF1R
16 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.56 SMARCB1 VIM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.56 IGF1R VIM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.56 VIM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.56 VIM
20 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.56 SMARCB1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.56 ACTC1 IGF1R
22 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.56 BCR
23 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.56 WT1 IGF1R
24 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.56 BCR
25 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.56 WT1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.56 BCR VIM
27 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.56 WT1 VIM
28 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.56 WT1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.56 WT1 IGF1R
30 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.56 WT1 IGF1R
31 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.56 VIM
32 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.56 IGF1R
33 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.56 BCR SMARCB1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.56 BCR SMARCB1 WT1 IGF1R VIM
35 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.65 ALPP IGF1R MUC1 PTPRC VIM
36 Increased vaccinia virus (VACV) infection GR00249-S 9.55 ACTC1 ALPP BCR DERL3 DES IGF1R
37 Increased proliferation GR00094-A 9.16 SMARCB1 TP53

MGI Mouse Phenotypes related to Rhabdoid Tumor Predisposition Syndrome 1:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.32 ACTC1 BCR DERL3 DES IGF1R IGF2
2 cellular MP:0005384 10.3 ACTC1 BCR DES IGF1R IGF2 PTPRC
3 cardiovascular system MP:0005385 10.28 ACTC1 DES IGF1R IGF2 MYOD1 SMARCB1
4 growth/size/body region MP:0005378 10.25 ACTC1 BCR IGF1R IGF2 MYOD1 PTPRC
5 mortality/aging MP:0010768 10.22 ACTC1 BCR DES IGF1R IGF2 MYOD1
6 hematopoietic system MP:0005397 10.19 BCR IGF1R IGF2 PTPRC SMARCB1 SPP1
7 immune system MP:0005387 10.16 BCR IGF1R IGF2 PTPRC SMARCB1 SPP1
8 muscle MP:0005369 10.07 ACTC1 DES IGF1R IGF2 MYOD1 SMARCB1
9 liver/biliary system MP:0005370 10.03 BCR IGF1R IGF2 PTPRC SMARCB1 SPP1
10 nervous system MP:0003631 9.96 BCR IGF1R IGF2 PTPRC SMARCB1 SPP1
11 neoplasm MP:0002006 9.87 IGF1R MYOD1 PTPRC SMARCB1 SPP1 TP53
12 normal MP:0002873 9.76 ACTC1 BCR DERL3 MYOD1 PTPRC SYP
13 reproductive system MP:0005389 9.56 IGF1R IGF2 MYOD1 SMARCB1 SPP1 TP53
14 respiratory system MP:0005388 9.28 IGF1R IGF2 MYOD1 PTPRC SPP1 STIM1

Drugs & Therapeutics for Rhabdoid Tumor Predisposition Syndrome 1

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Cervarix 18 49 Human Papillomavirus Bivalent (Types 16 and 18) Vaccine, Recombinant GlaxoSmithKline October 2009
2
Emend 18 49 APREPITANT FOSAPREPITANT DIMEGLUMINE Merck March 2003
3
Sprycel 18 49 DASATINIB Bristol-Myers Squibb June 2006
4
Stivarga 18 49 REGORAFENIB Bayer/ Bayer HealthCare Pharmaceuticals February 2013/ September 2012

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

(show top 50) (show all 174)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melphalan Approved Phase 2, Phase 3,Phase 1,Not Applicable 148-82-3 4053 460612
2
Carboplatin Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 41575-94-4 10339178 38904 498142
3
Thiotepa Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 52-24-4 5453
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 6055-19-2, 50-18-0 2907
5
Etoposide Approved Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable 33419-42-0 36462
6
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 2767 441203 84093
7
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 57-22-7, 2068-78-2 5978
8
leucovorin Approved Phase 3,Phase 2,Phase 1,Early Phase 1 58-05-9 6006 143
9
Methotrexate Approved Phase 3,Phase 2,Phase 1,Early Phase 1 59-05-2, 1959-05-2 126941
10
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
11
Temozolomide Approved, Investigational Phase 3,Phase 2,Phase 1 85622-93-1 5394
12
Levoleucovorin Approved, Investigational Phase 3,Phase 2,Early Phase 1 68538-85-2
13
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
14
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 457193 2019
15
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
16
Sulfamethoxazole Approved Phase 3 723-46-6 5329
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
18
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
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 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
23 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
24 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
25 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
26 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
27 Vitamin B Complex Phase 3,Phase 2,Phase 1,Early Phase 1
28 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable
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 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Early Phase 1
32 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
33 Antimetabolites Phase 3,Phase 2,Phase 1,Early Phase 1
34 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
35 Folate Phase 3,Phase 2,Phase 1,Early Phase 1
36 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
37 Vitamin B9 Phase 3,Phase 2,Phase 1,Early Phase 1
38 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
39 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1,Not Applicable
40 Liver Extracts Phase 3,Phase 1,Phase 2,Not Applicable
41 Calcium, Dietary Phase 3,Phase 2
42 Antidotes Phase 3,Phase 2,Phase 1
43 Anti-Infective Agents Phase 3,Phase 2,Phase 1
44 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
45 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
46 Cola Phase 3,Phase 1,Phase 2,Not Applicable
47 Central Nervous System Depressants Phase 3,Not Applicable
48 Adjuvants, Anesthesia Phase 3
49 Anesthetics, Intravenous Phase 3
50 Analgesics, Opioid Phase 3

Interventional clinical trials:

(show top 50) (show all 94)
# 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 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
4 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
5 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
6 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Completed NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
7 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
8 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
9 Combination Chemotherapy Alone or With Radiation Therapy in Treating Children With Kidney Cancer Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
10 Phase 2 Study of Alisertib Therapy for Rhabdoid Tumors Recruiting NCT02114229 Phase 2 alisertib;methotrexate;cisplatin;carboplatin;cyclophosphamide;etoposide;topotecan;vincristine
11 Antineoplaston Therapy in Treating Children With Rhabdoid Tumor of the Central Nervous System Terminated NCT00003469 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
12 Oxaliplatin in Treating Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Completed NCT00047177 Phase 2 Oxaliplatin
13 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
14 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
15 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Recruiting NCT02581384 Phase 1, Phase 2
16 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
17 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;Ulixertinib;Vemurafenib
18 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
19 Phase II Study of Intraventricular Methotrexate in Children With Recurrent or Progressive Malignant Brain Tumors Recruiting NCT02684071 Phase 2 Intra thecal methotrexate;topotecan;cyclophosphamide
20 Tazemetostat Rollover Study (TRuST): An Open-Label Rollover Study Recruiting NCT02875548 Phase 2 Tazemetostat
21 Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03698994 Phase 2 Ulixertinib
22 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
23 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
24 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
25 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
26 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
27 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
28 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
29 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
30 Chemotherapy in Treating Patients With Solid Tumors Completed NCT00003103 Phase 1, Phase 2 docetaxel
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 Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer Active, not recruiting NCT00445965 Phase 2
33 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
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 Modified Measles Virus (MV-NIS) for Children and Young Adults With Recurrent Medulloblastoma or Recurrent ATRT Recruiting NCT02962167 Phase 1
37 A Phase 1 Study of the EZH2 Inhibitor Tazemetostat in Pediatric Subjects With Relapsed or Refractory INI1-Negative Tumors or Synovial Sarcoma Active, not recruiting NCT02601937 Phase 1 Tazemetostat
38 Methotrexate Infusion Into Fourth Ventricle in Children With Recurrent Malignant Fourth Ventricular Brain Tumors Recruiting NCT02458339 Phase 1 Methotrexate
39 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
40 Study Of Palbociclib Combined With Chemotherapy In Pediatric Patients With Recurrent/Refractory Solid Tumors Not yet recruiting NCT03709680 Phase 1 Palbociclib;Temozolomide;Irinotecan
41 Aflac ST0901 CHOANOME - Sirolimus in Solid Tumors Active, not recruiting NCT01331135 Phase 1 sirolimus
42 Simvastatin With Topotecan and Cyclophosphamide in Relapsed and/or Refractory Pediatric Solid and CNS Tumors Recruiting NCT02390843 Phase 1 Simvastatin;Cyclophosphamide;Topotecan;Myeloid growth factor
43 EGFR806 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults Recruiting NCT03618381 Phase 1
44 A Study of CD45RA+ Depleted Haploidentical Stem Cell Transplantation in Children With Relapsed or Refractory Solid Tumors and Lymphomas Active, not recruiting NCT01625351 Phase 1 alemtuzumab;fludarabine;sirolimus;Busulfan;melphalan
45 Ribociclib and Everolimus in Treating Children With Recurrent or Refractory Malignant Brain Tumors Recruiting NCT03387020 Phase 1 Everolimus;Ribociclib
46 EGFR806-specific CAR T Cell Locoregional Immunotherapy for EGFR-positive Recurrent or Refractory Pediatric CNS Tumors Recruiting NCT03638167 Phase 1
47 HER2-specific CAR T Cell Locoregional Immunotherapy for HER2-positive Recurrent/Refractory Pediatric CNS Tumors Recruiting NCT03500991 Phase 1
48 Abemaciclib in Children With DIPG or Recurrent/Refractory Solid Tumors Recruiting NCT02644460 Phase 1 Abemaciclib
49 Wild-Type Reovirus in Combination With Sargramostim in Treating Younger Patients With High-Grade Relapsed or Refractory Brain Tumors Active, not recruiting NCT02444546 Phase 1
50 Gamma-Secretase Inhibitor RO4929097 in Treating Young Patients With Relapsed or Refractory Solid Tumors, CNS Tumors, Lymphoma, or T-Cell Leukemia Terminated NCT01088763 Phase 1 gamma-secretase/Notch signalling pathway inhibitor RO4929097;dexamethasone

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, Liver, Kidney, Bone, Ovary, Spinal Cord, Thymus

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 280)
# 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 ATRX NM_000489.4(ATRX): c.5579A> G (p.Asn1860Ser) single nucleotide variant Benign rs45439799 GRCh37 Chromosome X, 76856021: 76856021
9 ATRX NM_000489.4(ATRX): c.5579A> G (p.Asn1860Ser) single nucleotide variant Benign rs45439799 GRCh38 Chromosome X, 77600552: 77600552
10 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
11 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic rs28934575 GRCh38 Chromosome 17, 7674230: 7674230
12 SMARCB1 NM_003073.4(SMARCB1): c.1091_1093delAGA (p.Lys364del) deletion Pathogenic/Likely pathogenic rs875989800 GRCh38 Chromosome 22, 23833676: 23833678
13 SMARCB1 NM_003073.4(SMARCB1): c.1091_1093delAGA (p.Lys364del) deletion Pathogenic/Likely pathogenic rs875989800 GRCh37 Chromosome 22, 24175863: 24175865
14 SMARCB1 NM_003073.4(SMARCB1): c.897G> A (p.Ser299=) single nucleotide variant Benign rs2229354 GRCh37 Chromosome 22, 24167513: 24167513
15 SMARCB1 NM_003073.4(SMARCB1): c.897G> A (p.Ser299=) single nucleotide variant Benign rs2229354 GRCh38 Chromosome 22, 23825326: 23825326
16 SMARCB1 NM_003073.4(SMARCB1): c.1A> G (p.Met1Val) single nucleotide variant Conflicting interpretations of pathogenicity rs367768260 GRCh38 Chromosome 22, 23787170: 23787170
17 SMARCB1 NM_003073.4(SMARCB1): c.1A> G (p.Met1Val) single nucleotide variant Conflicting interpretations of pathogenicity rs367768260 GRCh37 Chromosome 22, 24129357: 24129357
18 SMARCB1 NM_003073.4(SMARCB1): c.606C> T (p.Asp202=) single nucleotide variant Likely benign rs727504163 GRCh37 Chromosome 22, 24145587: 24145587
19 SMARCB1 NM_003073.4(SMARCB1): c.606C> T (p.Asp202=) single nucleotide variant Likely benign rs727504163 GRCh38 Chromosome 22, 23803400: 23803400
20 SMARCB1 NM_003073.4(SMARCB1): c.585C> T (p.Ile195=) single nucleotide variant Conflicting interpretations of pathogenicity rs757546528 GRCh37 Chromosome 22, 24145566: 24145566
21 SMARCB1 NM_003073.4(SMARCB1): c.585C> T (p.Ile195=) single nucleotide variant Conflicting interpretations of pathogenicity rs757546528 GRCh38 Chromosome 22, 23803379: 23803379
22 SMARCB1 NM_003073.4(SMARCB1): c.888G> T (p.Lys296Asn) single nucleotide variant Uncertain significance rs769322487 GRCh37 Chromosome 22, 24167504: 24167504
23 SMARCB1 NM_003073.4(SMARCB1): c.888G> T (p.Lys296Asn) single nucleotide variant Uncertain significance rs769322487 GRCh38 Chromosome 22, 23825317: 23825317
24 SMARCB1 NM_003073.4(SMARCB1): c.-207-?_*338dup1703 duplication Uncertain significance GRCh37 Chromosome 22, 24129150: 24176705
25 SMARCB1 NM_003073.4(SMARCB1): c.-207-?_*338dup1703 duplication Uncertain significance GRCh38 Chromosome 22, 23786963: 23834518
26 SMARCB1 NM_003073.4(SMARCB1): c.987-?_*338dup510 duplication Uncertain significance GRCh38 Chromosome 22, 23833572: 23834518
27 SMARCB1 NM_003073.4(SMARCB1): c.987-?_*338dup510 duplication Uncertain significance GRCh37 Chromosome 22, 24175759: 24176705
28 SMARCB1 NM_003073.4(SMARCB1): c.267C> T (p.Thr89=) single nucleotide variant Benign/Likely benign rs141275968 GRCh38 Chromosome 22, 23793593: 23793593
29 SMARCB1 NM_003073.4(SMARCB1): c.267C> T (p.Thr89=) single nucleotide variant Benign/Likely benign rs141275968 GRCh37 Chromosome 22, 24135780: 24135780
30 SMARCB1 NM_003073.4(SMARCB1): c.362+7C> T single nucleotide variant Benign/Likely benign rs34746244 GRCh37 Chromosome 22, 24135882: 24135882
31 SMARCB1 NM_003073.4(SMARCB1): c.362+7C> T single nucleotide variant Benign/Likely benign rs34746244 GRCh38 Chromosome 22, 23793695: 23793695
32 SMARCB1 NM_003073.4(SMARCB1): c.438A> G (p.Pro146=) single nucleotide variant Benign rs35105793 GRCh37 Chromosome 22, 24143206: 24143206
33 SMARCB1 NM_003073.4(SMARCB1): c.438A> G (p.Pro146=) single nucleotide variant Benign rs35105793 GRCh38 Chromosome 22, 23801019: 23801019
34 SMARCB1 NM_003073.4(SMARCB1): c.897G> T (p.Ser299=) single nucleotide variant Likely benign rs2229354 GRCh38 Chromosome 22, 23825326: 23825326
35 SMARCB1 NM_003073.4(SMARCB1): c.897G> T (p.Ser299=) single nucleotide variant Likely benign rs2229354 GRCh37 Chromosome 22, 24167513: 24167513
36 SMARCB1 NM_003073.4(SMARCB1): c.*82C> T single nucleotide variant Pathogenic rs878854600 GRCh38 Chromosome 22, 23834262: 23834262
37 SMARCB1 NM_003073.4(SMARCB1): c.*82C> T single nucleotide variant Pathogenic rs878854600 GRCh37 Chromosome 22, 24176449: 24176449
38 SMARCB1 NM_003073.4(SMARCB1): c.1131T> C (p.Arg377=) single nucleotide variant Benign/Likely benign rs144863210 GRCh37 Chromosome 22, 24176340: 24176340
39 SMARCB1 NM_003073.4(SMARCB1): c.1131T> C (p.Arg377=) single nucleotide variant Benign/Likely benign rs144863210 GRCh38 Chromosome 22, 23834153: 23834153
40 SMARCB1 NM_003073.4(SMARCB1): c.-157G> A single nucleotide variant Uncertain significance rs886057281 GRCh38 Chromosome 22, 23787013: 23787013
41 SMARCB1 NM_003073.4(SMARCB1): c.-157G> A single nucleotide variant Uncertain significance rs886057281 GRCh37 Chromosome 22, 24129200: 24129200
42 SMARCB1 NM_003073.4(SMARCB1): c.-148T> C single nucleotide variant Uncertain significance rs886057283 GRCh38 Chromosome 22, 23787022: 23787022
43 SMARCB1 NM_003073.4(SMARCB1): c.-148T> C single nucleotide variant Uncertain significance rs886057283 GRCh37 Chromosome 22, 24129209: 24129209
44 SMARCB1 NM_003073.4(SMARCB1): c.723C> T (p.Ile241=) single nucleotide variant Conflicting interpretations of pathogenicity rs752910574 GRCh38 Chromosome 22, 23816864: 23816864
45 SMARCB1 NM_003073.4(SMARCB1): c.723C> T (p.Ile241=) single nucleotide variant Conflicting interpretations of pathogenicity rs752910574 GRCh37 Chromosome 22, 24159051: 24159051
46 SMARCB1 NM_003073.4(SMARCB1): c.*12_*14dupGCA duplication Uncertain significance rs886057285 GRCh38 Chromosome 22, 23834192: 23834194
47 SMARCB1 NM_003073.4(SMARCB1): c.*12_*14dupGCA duplication Uncertain significance rs886057285 GRCh37 Chromosome 22, 24176379: 24176381
48 SMARCB1 NM_003073.4(SMARCB1): c.*113C> T single nucleotide variant Uncertain significance rs886057286 GRCh37 Chromosome 22, 24176480: 24176480
49 SMARCB1 NM_003073.4(SMARCB1): c.*113C> T single nucleotide variant Uncertain significance rs886057286 GRCh38 Chromosome 22, 23834293: 23834293
50 SMARCB1 NM_003073.4(SMARCB1): c.-149C> T single nucleotide variant Uncertain significance rs886057282 GRCh38 Chromosome 22, 23787021: 23787021

Cosmic variations for Rhabdoid Tumor Predisposition Syndrome 1:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM10662 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
2 COSM10646 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 6
3 COSM10889 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 6
4 COSM1104 SMARCB1 central nervous system,choroid plexus,other,choroid plexus carcinoma c.233-1G>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 12.05 ACTC1 DES MUC1 VIM
2 11.6 MUC1 TP53 VIM
3 11.54 IGF1R IGF2 TP53
4 10.99 ACTC1 DES VIM
5 10.61 IGF1R IGF2 SPP1
6 10.46 DES IGF1R IGF2 SPP1 VIM

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 nuclear chromatin GO:0000790 8.92 MUC1 MYOD1 SMARCB1 TP53

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament organization GO:0045109 9.4 DES VIM
2 striated muscle cell differentiation GO:0051146 9.37 IGF2 MYOD1
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.33 IGF2 PTPRC TP53
4 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.32 MUC1 TP53
5 myotube differentiation GO:0014902 9.26 MYOD1 STIM1
6 positive regulation of histone H4 acetylation GO:0090240 8.96 MUC1 SMARCB1
7 muscle filament sliding GO:0030049 8.8 ACTC1 DES VIM

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.83 ALPP BCR DERL3 DES IGF1R IGF2
2 identical protein binding GO:0042802 9.63 DES IGF1R STIM1 SYP TP53 VIM
3 p53 binding GO:0002039 8.8 MUC1 SMARCB1 TP53

Sources for Rhabdoid Tumor Predisposition Syndrome 1

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