MCID: RHB021
MIFTS: 16

Rhabdomyosarcoma, Embryonal, 2

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

Aliases & Classifications for Rhabdomyosarcoma, Embryonal, 2

MalaCards integrated aliases for Rhabdomyosarcoma, Embryonal, 2:

Name: Rhabdomyosarcoma, Embryonal, 2 57 75 29 6 73
Rmse2 57 75
Rhabdomyosarcoma, Embryonal, Type 2 40

Classifications:



External Ids:

OMIM 57 180295
MedGen 42 C1867234
MeSH 44 D018233
UMLS 73 C1867234

Summaries for Rhabdomyosarcoma, Embryonal, 2

UniProtKB/Swiss-Prot : 75 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

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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nephroblastoma 32 HP:0002667
2 multinodular goiter 32 HP:0005987
3 pleuropulmonary blastoma 32 HP:0100528
4 embryonal rhabdomyosarcoma 32 HP:0006743
5 thyroid nodule 32 HP:0025388
6 ovarian thecoma 32 HP:0030983

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:

41
Thyroid

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.3907_3908delCT (p.Leu1303Valfs) deletion Pathogenic rs886037650 GRCh38 Chromosome 14, 95103488: 95103489
2 DICER1 NM_177438.2(DICER1): c.3907_3908delCT (p.Leu1303Valfs) deletion Pathogenic rs886037650 GRCh37 Chromosome 14, 95569825: 95569826
3 DICER1 NM_177438.2(DICER1): c.3611_3616delACTACAinsT (p.Tyr1204Leufs) indel Pathogenic rs886037651 GRCh38 Chromosome 14, 95103780: 95103785
4 DICER1 NM_177438.2(DICER1): c.3611_3616delACTACAinsT (p.Tyr1204Leufs) indel Pathogenic rs886037651 GRCh37 Chromosome 14, 95570117: 95570122

Cosmic variations for Rhabdomyosarcoma, Embryonal, 2:

9
(show top 50) (show all 151)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 10
2 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>T p.G245C 17:7674230-7674230 10
3 COSM10662 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 10
4 COSM10654 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 10
5 COSM44720 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 10
6 COSM6932 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>A p.G245S 17:7674230-7674230 10
7 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.668C>G p.P223R 17:7674863-7674863 10
8 COSM6986214 SOX9 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.76A>G p.M26V 17:72121467-72121467 10
9 COSM6986215 PTPRT soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2277G>T p.Q759H 20:42248779-42248779 10
10 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 10
11 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 12:112489084-112489084 10
12 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.214G>A p.A72T 12:112450394-112450394 10
13 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.205G>A p.E69K 12:112450385-112450385 10
14 COSM6986208 PTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.208G>A p.A70T 9:95506593-95506593 10
15 COSM6910708 POLE soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5975G>C p.C1992S 12:132634215-132634215 10
16 COSM1083818 PIK3CG soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2638G>A p.E880K 7:106883041-106883041 10
17 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 3:179218303-179218303 10
18 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 3:179234297-179234297 10
19 COSM6914067 PDGFRA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3195G>C p.E1065D 4:54295197-54295197 10
20 COSM6964921 NTRK3 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.492C>A p.C164* 15:88137534-88137534 10
21 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 10
22 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 1:114713907-114713907 10
23 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>A p.G12D 1:114716126-114716126 10
24 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 1:114716124-114716124 10
25 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 1:114713908-114713908 10
26 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 1:114716127-114716127 10
27 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.38G>T p.G13V 1:114716123-114716123 10
28 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 1:114716127-114716127 10
29 COSM6910706 NOTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3277T>C p.Y1093H 9:136508280-136508280 10
30 COSM6933086 NF1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.7870G>C p.A2624P 17:31357269-31357269 10
31 COSM516 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 12:25245351-25245351 10
32 COSM522 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>C p.G12A 12:25245350-25245350 10
33 COSM553 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 12:25227342-25227342 10
34 COSM6930430 KMT2D soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 10
35 COSM2965310 KDM6A soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.493C>T p.R165* 23:45020659-45020659 10
36 COSM486 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 11:534286-534286 10
37 COSM480 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 11:534289-534289 10
38 COSM496 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 11:533875-533875 10
39 COSM483 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>T p.G12V 11:534288-534288 10
40 COSM481 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 11:534289-534289 10
41 COSM5702570 FGFR1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1611G>T p.M537I 8:38417358-38417358 10
42 COSM1251469 ERCC5 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3256G>A p.G1086R 13:102875598-102875598 10
43 COSM959251 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5113G>A p.E1705K 14:95094139-95094139 10
44 COSM3744763 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5428G>T p.D1810Y 14:95091302-95091302 10
45 COSM3738451 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5439G>T p.E1813D 14:95091291-95091291 10
46 COSM3738549 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5365-1G>T p.? 14:95091366-95091366 10
47 COSM4169595 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5425G>A p.G1809R 14:95091305-95091305 10
48 COSM393242 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2062C>T p.R688* 14:95112226-95112226 10
49 COSM5702566 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2809C>T p.R937C 14:95106219-95106219 10
50 COSM3738459 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5437G>A p.E1813K 14:95091293-95091293 10

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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