RMSE2
MCID: RHB021
MIFTS: 23

Rhabdomyosarcoma, Embryonal, 2 (RMSE2)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Rhabdomyosarcoma, Embryonal, 2

MalaCards integrated aliases for Rhabdomyosarcoma, Embryonal, 2:

Name: Rhabdomyosarcoma, Embryonal, 2 57 72 29 6 70
Rmse2 57 72
Rhabdomyosarcoma, Embryonal, Type 2 39

Classifications:



External Ids:

OMIM® 57 180295
MeSH 44 D018233
MedGen 41 C1867234
UMLS 70 C1867234

Summaries for Rhabdomyosarcoma, Embryonal, 2

UniProtKB/Swiss-Prot : 72 Rhabdomyosarcoma, embryonal, 2: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.

MalaCards based summary : Rhabdomyosarcoma, Embryonal, 2, is also known as rmse2. An important gene associated with Rhabdomyosarcoma, Embryonal, 2 is DICER1 (Dicer 1, Ribonuclease III). Affiliated tissues include thyroid, and related phenotypes are nephroblastoma and multinodular goiter

More information from OMIM: 180295

Related Diseases for Rhabdomyosarcoma, Embryonal, 2

Diseases in the Embryonal Rhabdomyosarcoma family:

Rhabdomyosarcoma, Embryonal, 2 Rhabdomyosarcoma, Embryonal, 1

Symptoms & Phenotypes for Rhabdomyosarcoma, Embryonal, 2

Human phenotypes related to Rhabdomyosarcoma, Embryonal, 2:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nephroblastoma 31 HP:0002667
2 multinodular goiter 31 HP:0005987
3 pleuropulmonary blastoma 31 HP:0100528
4 thyroid nodule 31 HP:0025388
5 embryonal rhabdomyosarcoma 31 HP:0006743
6 ovarian thecoma 31 HP:0030983

Clinical features from OMIM®:

180295 (Updated 05-Apr-2021)

Drugs & Therapeutics for Rhabdomyosarcoma, Embryonal, 2

Search Clinical Trials , NIH Clinical Center for Rhabdomyosarcoma, Embryonal, 2

Genetic Tests for Rhabdomyosarcoma, Embryonal, 2

Genetic tests related to Rhabdomyosarcoma, Embryonal, 2:

# Genetic test Affiliating Genes
1 Rhabdomyosarcoma, Embryonal, 2 29 DICER1

Anatomical Context for Rhabdomyosarcoma, Embryonal, 2

MalaCards organs/tissues related to Rhabdomyosarcoma, Embryonal, 2:

40
Thyroid

Publications for Rhabdomyosarcoma, Embryonal, 2

Articles related to Rhabdomyosarcoma, Embryonal, 2:

# Title Authors PMID Year
1
Extending the phenotypes associated with DICER1 mutations. 57 6
21882293 2011

Variations for Rhabdomyosarcoma, Embryonal, 2

ClinVar genetic disease variations for Rhabdomyosarcoma, Embryonal, 2:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DICER1 NM_030621.4(DICER1):c.3905_3906CT[1] (p.Leu1303fs) Microsatellite Pathogenic 66095 rs886037650 GRCh37: 14:95569825-95569826
GRCh38: 14:95103488-95103489
2 DICER1 NM_030621.4(DICER1):c.3611_3616delinsT (p.Tyr1204fs) Indel Pathogenic 66096 rs886037651 GRCh37: 14:95570117-95570122
GRCh38: 14:95103780-95103785
3 DICER1 NM_177438.2(DICER1):c.4407_4410del (p.Ser1470fs) Deletion Pathogenic 225888 rs875989784 GRCh37: 14:95562847-95562850
GRCh38: 14:95096510-95096513
4 DICER1 NM_030621.4(DICER1):c.5441C>T (p.Ser1814Leu) SNV Likely pathogenic 412119 rs1060503625 GRCh37: 14:95557626-95557626
GRCh38: 14:95091289-95091289
5 DICER1 NM_177438.2(DICER1):c.5738A>G (p.Lys1913Arg) SNV Uncertain significance 315100 rs752116341 GRCh37: 14:95556866-95556866
GRCh38: 14:95090529-95090529
6 DICER1 NM_177438.2(DICER1):c.4923T>G (p.Cys1641Trp) SNV Uncertain significance 133973 rs587778231 GRCh37: 14:95562334-95562334
GRCh38: 14:95095997-95095997
7 DICER1 NM_177438.2(DICER1):c.4475T>C (p.Met1492Thr) SNV Uncertain significance 483407 rs370947079 GRCh37: 14:95562782-95562782
GRCh38: 14:95096445-95096445
8 DICER1 NM_177438.2(DICER1):c.4449G>A (p.Met1483Ile) SNV Uncertain significance 577152 rs1454569806 GRCh37: 14:95562808-95562808
GRCh38: 14:95096471-95096471
9 DICER1 NM_177438.2(DICER1):c.3890T>C (p.Ile1297Thr) SNV Uncertain significance 543654 rs761578934 GRCh37: 14:95569843-95569843
GRCh38: 14:95103506-95103506
10 DICER1 NM_177438.2(DICER1):c.3722A>G (p.Lys1241Arg) SNV Uncertain significance 477160 rs764415288 GRCh37: 14:95570011-95570011
GRCh38: 14:95103674-95103674
11 DICER1 NM_177438.2(DICER1):c.3578A>G (p.Asn1193Ser) SNV Uncertain significance 569594 rs1288723916 GRCh37: 14:95570155-95570155
GRCh38: 14:95103818-95103818
12 DICER1 NM_177438.2(DICER1):c.2536A>G (p.Ile846Val) SNV Uncertain significance 477106 rs201212908 GRCh37: 14:95574331-95574331
GRCh38: 14:95107994-95107994
13 DICER1 NM_177438.2(DICER1):c.2494A>G (p.Lys832Glu) SNV Uncertain significance 412093 rs1060503613 GRCh37: 14:95574373-95574373
GRCh38: 14:95108036-95108036
14 DICER1 NM_177438.2(DICER1):c.359A>T (p.Lys120Met) SNV Uncertain significance 412081 rs1060503608 GRCh37: 14:95597925-95597925
GRCh38: 14:95131588-95131588

Cosmic variations for Rhabdomyosarcoma, Embryonal, 2:

9 (show top 50) (show all 619)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM93183630 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 4
2 COSM112255322 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 4
3 COSM122271658 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.337G>T p.G113C 17:7674230-7674230 4
4 COSM145017865 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.616G>A p.G206S 17:7674230-7674230 4
5 COSM142605762 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.754A>C p.K252Q 17:7673749-7673749 4
6 COSM144013587 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.700G>A p.G234S 17:7674230-7674230 4
7 COSM122271355 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.305A>G p.Y102C 17:7674262-7674262 4
8 COSM143576669 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.551C>G p.P184R 17:7674863-7674863 4
9 COSM106096066 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
10 COSM145017326 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.407G>A p.R136H 17:7675088-7675088 4
11 COSM144544530 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.494A>G p.E165G 17:7674920-7674920 4
12 COSM144020071 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.695T>C p.M232T 17:7674235-7674235 4
13 COSM112297123 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
14 COSM93183307 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.524G>A p.R175H 17:7675088-7675088 4
15 COSM144015364 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.604C>T p.R202* 17:7674894-7674894 4
16 COSM143371076 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.616G>A p.G206S 17:7674230-7674230 4
17 COSM142845635 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 4
18 COSM87906219 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 4
19 COSM93229090 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
20 COSM145024780 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611T>C p.M204T 17:7674235-7674235 4
21 COSM121884328 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.332T>C p.M111T 17:7674235-7674235 4
22 COSM121878773 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.241C>T p.R81* 17:7674894-7674894 4
23 COSM105622516 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 4
24 COSM143386796 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.134A>G p.E45G 17:7674920-7674920 4
25 COSM112446896 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 4
26 COSM122105750 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.272C>G p.P91R 17:7674863-7674863 4
27 COSM142838784 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 4
28 COSM143984574 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.394A>C p.K132Q 17:7673749-7673749 4
29 COSM143946062 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.160C>T p.R54* 17:7674894-7674894 4
30 COSM143943565 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.47G>A p.R16H 17:7675088-7675088 4
31 COSM144651337 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.616G>A p.G206S 17:7674230-7674230 4
32 COSM145221104 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.551C>G p.P184R 17:7674863-7674863 4
33 COSM144120969 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.394A>C p.K132Q 17:7673749-7673749 4
34 COSM122781709 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.475A>C p.K159Q 17:7673749-7673749 4
35 COSM111802670 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
36 COSM88149182 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.668C>G p.P223R 17:7674863-7674863 4
37 COSM142570943 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.844A>T p.K282* 17:7673567-7673567 4
38 COSM105620276 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 4
39 COSM142837352 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 4
40 COSM106059837 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 4
41 COSM87949760 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
42 COSM143413354 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.754A>C p.K252Q 17:7673749-7673749 4
43 COSM144182541 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.706A>G p.N236D 17:7674224-7674224 4
44 COSM122271749 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.337G>A p.G113S 17:7674230-7674230 4
45 COSM111760544 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 4
46 COSM111765613 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 4
47 COSM143943621 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.224A>G p.Y75C 17:7674262-7674262 4
48 COSM112264430 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 4
49 COSM142771096 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.551C>G p.P184R 17:7674863-7674863 4
50 COSM121876092 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.337G>T p.G113C 17:7674230-7674230 4

Expression for Rhabdomyosarcoma, Embryonal, 2

Search GEO for disease gene expression data for Rhabdomyosarcoma, Embryonal, 2.

Pathways for Rhabdomyosarcoma, Embryonal, 2

GO Terms for Rhabdomyosarcoma, Embryonal, 2

Sources for Rhabdomyosarcoma, Embryonal, 2

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