MCID: RHB021
MIFTS: 13

Rhabdomyosarcoma, Embryonal, 2

Categories: Genetic diseases, Cancer diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Rhabdomyosarcoma, Embryonal, 2

MalaCards integrated aliases for Rhabdomyosarcoma, Embryonal, 2:

Name: Rhabdomyosarcoma, Embryonal, 2 53 71 28 69
Rmse2 53 71

Classifications:



External Ids:

OMIM 53 180295
MedGen 39 C1867234
MeSH 41 D018233
SNOMED-CT via HPO 65 237570007 14269005 404051002
UMLS 69 C1867234

Summaries for Rhabdomyosarcoma, Embryonal, 2

UniProtKB/Swiss-Prot : 71 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, and has symptoms including multinodular goiter and embryonal rhabdomyosarcoma. An important gene associated with Rhabdomyosarcoma, Embryonal, 2 is DICER1 (Dicer 1, Ribonuclease III).

Description 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

Clinical features from OMIM:

180295

Human phenotypes related to Rhabdomyosarcoma, Embryonal, 2:

31
# Description HPO Frequency HPO Source Accession
1 multinodular goiter 31 HP:0005987
2 embryonal rhabdomyosarcoma 31 HP:0006743

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 28 DICER1

Anatomical Context for Rhabdomyosarcoma, Embryonal, 2

Publications for Rhabdomyosarcoma, Embryonal, 2

Variations for Rhabdomyosarcoma, Embryonal, 2

ClinVar genetic disease variations for Rhabdomyosarcoma, Embryonal, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DICER1 NM_177438.2(DICER1): c.3611_3616delACTACAinsT (p.Tyr1204Leufs) indel Pathogenic rs886037651 GRCh38 Chromosome 14, 95103780: 95103785
2 DICER1 NM_177438.2(DICER1): c.3907_3908delCT (p.Leu1303Valfs) deletion Pathogenic rs886037650 GRCh38 Chromosome 14, 95103488: 95103489

Cosmic variations for Rhabdomyosarcoma, Embryonal, 2:

9 (show top 50) (show all 64)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.668C>G p.P223R 8
2 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 8
3 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>T p.G245C 8
4 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.214G>A p.A72T 8
5 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.205G>A p.E69K 8
6 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 8
7 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 8
8 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 8
9 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 8
10 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 8
11 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 8
12 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.38G>T p.G13V 8
13 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 8
14 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>A p.G12D 8
15 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 8
16 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 8
17 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 8
18 COSM1745010 MYOD1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.365T>G p.L122R 8
19 COSM553 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 8
20 COSM516 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 8
21 COSM522 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>C p.G12A 8
22 COSM486 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 8
23 COSM481 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 8
24 COSM483 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>T p.G12V 8
25 COSM480 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 8
26 COSM5702570 FGFR1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1611G>T p.M537I 8
27 COSM5702566 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2809C>T p.R937C 8
28 COSM3738459 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5437G>A p.E1813K 8
29 COSM959251 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5113G>A p.E1705K 8
30 COSM3744763 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5428G>T p.D1810Y 8
31 COSM3738451 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5439G>T p.E1813D 8
32 COSM3738549 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5365-1G>T p.? 8
33 COSM393242 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2062C>T p.R688* 8
34 COSM4169595 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5425G>A p.G1809R 8
35 COSM5692 CTNNB1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.134C>A p.S45Y 8
36 COSM5664 CTNNB1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.121A>G p.T41A 8
37 COSM476 BRAF soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1799T>A p.V600E 8
38 COSM143842 ALK soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3673G>A p.D1225N 8
39 COSM1651691 ALK soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3830T>C p.I1277T 8
40 COSM5702542 ABL2 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1045G>T p.V349L 8
41 COSM5702540 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1108G>T p.V370L 8
42 COSM5702568 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1611G>T p.M537I 8
43 COSM5702571 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1611G>T p.M537I 8
44 COSM5702541 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1090G>T p.V364L 8
45 COSM5702572 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1611G>T p.M537I 8
46 COSM5702539 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1153G>T p.V385L 8
47 COSM99938 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 8
48 COSM5702569 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1581G>T p.M527I 8
49 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 6
50 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 6

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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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30 HMDB
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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