MCID: BLD037
MIFTS: 23

Bile Duct Rhabdomyosarcoma

Categories: Cancer diseases, Gastrointestinal diseases, Liver diseases, Muscle diseases

Aliases & Classifications for Bile Duct Rhabdomyosarcoma

MalaCards integrated aliases for Bile Duct Rhabdomyosarcoma:

Name: Bile Duct Rhabdomyosarcoma 12 15
Rhabdomyosarcoma of the Bile Duct 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3254
NCIt 49 C5860
UMLS 71 C2064434

Summaries for Bile Duct Rhabdomyosarcoma

Disease Ontology : 12 A rhabdomyosarcoma and sarcoma of bile duct that is located in the bile duct.

MalaCards based summary : Bile Duct Rhabdomyosarcoma, also known as rhabdomyosarcoma of the bile duct, is related to embryonal extrahepatic bile duct rhabdomyosarcoma and rhabdomyosarcoma. An important gene associated with Bile Duct Rhabdomyosarcoma is GGTLC3 (Gamma-Glutamyltransferase Light Chain Family Member 3), and among its related pathways/superpathways are Folate Metabolism and Glutathione metabolism. Affiliated tissues include bile duct and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Bile Duct Rhabdomyosarcoma

Diseases related to Bile Duct Rhabdomyosarcoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 embryonal extrahepatic bile duct rhabdomyosarcoma 12.5
2 rhabdomyosarcoma 10.3
3 sarcoma 10.2
4 spindle cell sarcoma 10.2
5 soft tissue sarcoma 10.0
6 obstructive jaundice 10.0
7 botryoid rhabdomyosarcoma 10.0
8 cholestasis, progressive familial intrahepatic, 1 9.6 GGTLC3 GGT1
9 ascending cholangitis 9.5 GGTLC3 GGT2
10 suppurative cholangitis 9.5 GGTLC3 GGT2
11 familial adenomatous polyposis 2 9.5 GGTLC3 GGT2
12 cholestasis, progressive familial intrahepatic, 3 9.4 GGTLC3 GGT2
13 bile duct sarcoma 9.3 GGTLC3 GGT2 GGT1
14 splenic tuberculosis 9.3 GGTLC3 GGT2 GGT1
15 gallbladder papillary carcinoma 9.3 GGTLC3 GGT2 GGT1
16 extrahepatic bile duct adenoma 9.3 GGTLC3 GGT2 GGT1
17 optic nerve astrocytoma 9.3 GGTLC3 GGT2 GGT1
18 myasthenic syndrome, congenital, 3b, fast-channel 9.3 GGTLC3 GGT2 GGT1
19 dientamoebiasis 9.3 GGTLC3 GGT2 GGT1
20 algoneurodystrophy 9.3 GGTLC3 GGT2 GGT1
21 giant axonal neuropathy 1, autosomal recessive 9.3 GGTLC3 GGT2 GGT1
22 acute cholangitis 9.3 GGTLC3 GGT2 GGT1
23 amelogenesis imperfecta, type if 9.3 GGTLC3 GGT2 GGT1
24 retinitis pigmentosa 9.3 GGTLC3 GGT2 GGT1
25 retinitis pigmentosa 48 9.3 GGTLC3 GGT2 GGT1
26 deafness, autosomal dominant 59 9.3 GGTLC3 GGT2 GGT1
27 bile duct cysts 9.3 GGTLC3 GGT2 GGT1
28 viral laryngitis 9.3 GGTLC3 GGT2 GGT1
29 bile acid synthesis defect, congenital, 3 9.3 GGTLC3 GGT2 GGT1
30 common bile duct disease 9.3 GGTLC3 GGT2 GGT1
31 bile duct disease 9.3 GGTLC3 GGT2 GGT1
32 cataract 34, multiple types 9.3 GGTLC3 GGT2 GGT1
33 bile acid synthesis defect, congenital, 1 9.3 GGTLC3 GGT2 GGT1
34 esophageal varix 9.3 GGTLC3 GGT2 GGT1
35 loeys-dietz syndrome 2 9.3 GGTLC3 GGT2 GGT1
36 loeys-dietz syndrome 9.3 GGTLC3 GGT2 GGT1
37 cataract 4, multiple types 9.3 GGTLC3 GGT2 GGT1
38 choledocholithiasis 9.3 GGTLC3 GGT2 GGT1
39 hepatic vascular disease 9.3 GGTLC3 GGT2 GGT1
40 autoimmune disease of urogenital tract 9.2 GGTLC3 GGT2 GGT1
41 vein disease 9.2 GGTLC3 GGT2 GGT1
42 bilirubin metabolic disorder 9.2 GGTLC3 GGT2 GGT1
43 lens disease 9.2 GGTLC3 GGT2 GGT1
44 lipid storage disease 9.2 GGTLC3 GGT2 GGT1
45 cholangitis, primary sclerosing 9.2 GGTLC3 GGT2 GGT1
46 alcohol use disorder 9.2 GGTLC3 GGT2 GGT1
47 gallbladder disease 9.2 GGTLC3 GGT2 GGT1
48 biliary tract disease 9.2 GGTLC3 GGT2 GGT1
49 inherited metabolic disorder 9.2 GGTLC3 GGT2 GGT1
50 coronary artery anomaly 9.2 GGTLC3 GGT2 GGT1

Graphical network of the top 20 diseases related to Bile Duct Rhabdomyosarcoma:



Diseases related to Bile Duct Rhabdomyosarcoma

Symptoms & Phenotypes for Bile Duct Rhabdomyosarcoma

GenomeRNAi Phenotypes related to Bile Duct Rhabdomyosarcoma according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.91 GGT2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.91 GGT2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.91 GGT1 GGT2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.91 GGT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.91 GGT1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.91 GGT1 GGT2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.91 GGT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.91 GGT2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.91 GGT1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.91 GGT1 GGT2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.5 GGT1 GGT2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.5 GGT1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.5 GGT2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.5 GGT2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.5 GGT2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.5 GGT1

Drugs & Therapeutics for Bile Duct Rhabdomyosarcoma

Search Clinical Trials , NIH Clinical Center for Bile Duct Rhabdomyosarcoma

Genetic Tests for Bile Duct Rhabdomyosarcoma

Anatomical Context for Bile Duct Rhabdomyosarcoma

The Foundational Model of Anatomy Ontology organs/tissues related to Bile Duct Rhabdomyosarcoma:

19
Bile Duct

MalaCards organs/tissues related to Bile Duct Rhabdomyosarcoma:

40
Liver

Publications for Bile Duct Rhabdomyosarcoma

Articles related to Bile Duct Rhabdomyosarcoma:

# Title Authors PMID Year
1
Outcome of localized liver-bile duct rhabdomyosarcoma according to local therapy: A report from the European Paediatric Soft-Tissue Sarcoma Study Group (EpSSG)-RMS 2005 study. 61
30920113 2019

Variations for Bile Duct Rhabdomyosarcoma

Expression for Bile Duct Rhabdomyosarcoma

Search GEO for disease gene expression data for Bile Duct Rhabdomyosarcoma.

Pathways for Bile Duct Rhabdomyosarcoma

Pathways related to Bile Duct Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 GGT2 GGT1
2
Show member pathways
11.68 GGT2 GGT1
3
Show member pathways
11.53 GGT2 GGT1
4 11.42 GGT2 GGT1
5
Show member pathways
10.8 GGT2 GGT1
6 10.34 GGT2 GGT1
7 9.98 GGT2 GGT1

GO Terms for Bile Duct Rhabdomyosarcoma

Cellular components related to Bile Duct Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 8.8 GGTLC3 GGT2 GGT1

Biological processes related to Bile Duct Rhabdomyosarcoma according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.58 GGTLC3 GGT2 GGT1
2 translation GO:0006412 9.49 GGT2 GGT1
3 response to lipopolysaccharide GO:0032496 9.48 GGT2 GGT1
4 response to estradiol GO:0032355 9.46 GGT2 GGT1
5 regulation of inflammatory response GO:0050727 9.43 GGT2 GGT1
6 response to tumor necrosis factor GO:0034612 9.37 GGT2 GGT1
7 zymogen activation GO:0031638 9.32 GGT2 GGT1
8 regulation of immune system process GO:0002682 9.26 GGT2 GGT1
9 peptide modification GO:0031179 9.16 GGT2 GGT1
10 leukotriene D4 biosynthetic process GO:1901750 9.13 GGTLC3 GGT2 GGT1
11 glutathione catabolic process GO:0006751 8.8 GGTLC3 GGT2 GGT1

Molecular functions related to Bile Duct Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidyltransferase activity GO:0000048 8.96 GGT2 GGT1
2 glutathione hydrolase activity GO:0036374 8.8 GGTLC3 GGT2 GGT1

Sources for Bile Duct Rhabdomyosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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