MCID: RHB023
MIFTS: 27

Rhabdomyosarcoma, Embryonal, 1

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

Aliases & Classifications for Rhabdomyosarcoma, Embryonal, 1

MalaCards integrated aliases for Rhabdomyosarcoma, Embryonal, 1:

Name: Rhabdomyosarcoma, Embryonal, 1 57 75
Rhabdomyosarcoma 1 57 75 55 73
Rhabdomyosarcoma, Somatic 57 13 6
Rmse1 57 75
Rms1 57 75
Rhabdomyosarcoma Chromosomal Region; Rmscr 57
Rhabdomyosarcoma Chromosomal Region 57
Rhabdomyosarcoma, Embryonal, Type 1 40
Rhabdomyosarcoma, Embryonal 73
Embryonal Rhabdomyosarcoma 59
Rhabdomyosarcoma 1; Rms1 57
Rmscr 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
rhabdomyosarcoma, embryonal, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 268210
Orphanet 59 ORPHA99757
ICD10 via Orphanet 34 C49.9
MESH via Orphanet 45 D018233
UMLS via Orphanet 74 C0206656
MedGen 42 C1849385
MeSH 44 D018233
SNOMED-CT via HPO 69 258211005 14269005 404051002
UMLS 73 C1849385

Summaries for Rhabdomyosarcoma, Embryonal, 1

UniProtKB/Swiss-Prot : 75 Rhabdomyosarcoma, embryonal, 1: 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, 1, also known as rhabdomyosarcoma 1, is related to rhabdomyosarcoma and embryonal rhabdomyosarcoma. An important gene associated with Rhabdomyosarcoma, Embryonal, 1 is SLC22A18 (Solute Carrier Family 22 Member 18), and among its related pathways/superpathways is Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Related phenotype is embryonal rhabdomyosarcoma.

Description from OMIM: 268210

Related Diseases for Rhabdomyosarcoma, Embryonal, 1

Diseases in the Embryonal Rhabdomyosarcoma family:

Rhabdomyosarcoma, Embryonal, 2 Rhabdomyosarcoma, Embryonal, 1

Diseases related to Rhabdomyosarcoma, Embryonal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 rhabdomyosarcoma 30.1 ABCB1 SLC22A18
2 embryonal rhabdomyosarcoma 12.6
3 parameningeal embryonal rhabdomyosarcoma 12.4
4 prostate embryonal rhabdomyosarcoma 12.3
5 orbit embryonal rhabdomyosarcoma 12.3
6 vulvar childhood botryoid-type embryonal rhabdomyosarcoma 12.1
7 botryoid rhabdomyosarcoma 11.6
8 spindle cell rhabdomyosarcoma 11.5
9 embryonal extrahepatic bile duct rhabdomyosarcoma 11.1
10 mixed type rhabdomyosarcoma 11.1
11 childhood botryoid rhabdomyosarcoma 11.1
12 childhood vagina botryoid rhabdomyosarcoma 11.1
13 prostatitis 10.4
14 sarcoma 10.4
15 orbit rhabdomyosarcoma 10.3
16 cervicitis 10.2
17 costello syndrome 10.1
18 rhabdomyosarcoma 2 10.0
19 aging 10.0
20 bile duct cysts 10.0
21 mastoiditis 10.0
22 laryngitis 10.0
23 soft tissue sarcoma 10.0
24 neuroblastoma 10.0
25 vaginitis 10.0
26 teratoma 10.0
27 ectomesenchymoma 10.0
28 neurofibromatosis, type i 9.9
29 neurofibromatosis, type iv, of riccardi 9.9
30 sinusitis 9.9
31 cervical polyp 9.9
32 urethritis 9.9
33 leiomyosarcoma 9.9
34 vulvovaginitis 9.9
35 mediastinitis 9.9
36 uterine inversion 9.9
37 dicer1-related disorders 9.9
38 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 9.9
39 embryonal sarcoma 9.9
40 hepatocellular carcinoma 9.7
41 facioscapulohumeral muscular dystrophy 1 9.7
42 noonan syndrome 1 9.7
43 retinoblastoma 9.7
44 premature centromere division 9.7
45 dubowitz syndrome 9.7
46 insulin-like growth factor i 9.7
47 sudden infant death syndrome 9.7
48 pleuropulmonary blastoma 9.7
49 wilms tumor 5 9.7
50 focal segmental glomerulosclerosis 1 9.7

Graphical network of the top 20 diseases related to Rhabdomyosarcoma, Embryonal, 1:



Diseases related to Rhabdomyosarcoma, Embryonal, 1

Symptoms & Phenotypes for Rhabdomyosarcoma, Embryonal, 1

Symptoms via clinical synopsis from OMIM:

57
Oncology:
embryonal rhabdomyosarcoma


Clinical features from OMIM:

268210

Human phenotypes related to Rhabdomyosarcoma, Embryonal, 1:

32
# Description HPO Frequency HPO Source Accession
1 embryonal rhabdomyosarcoma 32 HP:0006743

Drugs & Therapeutics for Rhabdomyosarcoma, Embryonal, 1

Search Clinical Trials , NIH Clinical Center for Rhabdomyosarcoma, Embryonal, 1

Genetic Tests for Rhabdomyosarcoma, Embryonal, 1

Anatomical Context for Rhabdomyosarcoma, Embryonal, 1

Publications for Rhabdomyosarcoma, Embryonal, 1

Articles related to Rhabdomyosarcoma, Embryonal, 1:

# Title Authors Year
1
Pathology quiz case 1. Diagnosis: laryngeal rhabdomyosarcoma, embryonal subtype. ( 21690521 )
2011

Variations for Rhabdomyosarcoma, Embryonal, 1

ClinVar genetic disease variations for Rhabdomyosarcoma, Embryonal, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC22A18 NM_002555.5(SLC22A18): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic rs78838117 GRCh38 Chromosome 11, 2909210: 2909210
2 SLC22A18 NM_002555.5(SLC22A18): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic rs78838117 GRCh37 Chromosome 11, 2930440: 2930440

Cosmic variations for Rhabdomyosarcoma, Embryonal, 1:

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

Expression for Rhabdomyosarcoma, Embryonal, 1

Search GEO for disease gene expression data for Rhabdomyosarcoma, Embryonal, 1.

GO Terms for Rhabdomyosarcoma, Embryonal, 1

Cellular components related to Rhabdomyosarcoma, Embryonal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.62 ABCB1 SLC22A18

Biological processes related to Rhabdomyosarcoma, Embryonal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 8.96 ABCB1 SLC22A18
2 drug transmembrane transport GO:0006855 8.62 ABCB1 SLC22A18

Sources for Rhabdomyosarcoma, Embryonal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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