PedAM

Pediatric Disease Annotations & Medicines


	collecting duct carcinoma

Disease ID	1173
Disease	collecting duct carcinoma
Definition	Also known as collecting duct carcinoma, this is a rare type of renal carcinoma. It arises from the collecting ducts of the renal medulla, and most authors suggest that this is an aggressive tumor.
Synonym	bdc bellini duct carcinoma carcinoma of collecting ducts of bellini carcinoma of kidney collecting duct carcinoma of renal collecting duct carcinoma of the collecting ducts of bellini carcinoma of the kidney collecting duct carcinoma of the renal collecting duct carcinoma, collecting duct carcinoma, collecting duct (kidney) carcinomas, collecting duct carcinomas, collecting duct (kidney) collecting duct carcinoma (kidney) collecting duct carcinoma (morphologic abnormality) collecting duct carcinoma of the kidney collecting duct carcinomas collecting duct carcinomas (kidney) collecting duct renal cancer collecting duct renal cell carcinoma duct carcinoma, collecting duct carcinoma, collecting (kidney) duct carcinomas, collecting duct carcinomas, collecting (kidney) kidney collecting duct carcinoma renal carcinoma, collecting duct type renal collecting duct carcinoma
Orphanet	ORPHANET:247203
OMIM	OMIM:113100
DOID	DOID:4464
UMLS	C1266044
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0206681 \| clear cell carcinoma \| 1 C0020437 \| hypercalcemia \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:68) 928 \| CD9 \| DISEASES 6793 \| STK10 \| DISEASES 7414 \| VCL \| DISEASES 5816 \| PVALB \| DISEASES 7380 \| UPK3A \| DISEASES 7165 \| TPD52L2 \| DISEASES 1048 \| CEACAM5 \| DISEASES 7431 \| VIM \| DISEASES 7942 \| TFEB \| DISEASES 3852 \| KRT5 \| DISEASES 999 \| CDH1 \| DISEASES 1387 \| CREBBP \| DISEASES 6598 \| SMARCB1 \| DISEASES 6801 \| STRN \| DISEASES 6389 \| SDHA \| DISEASES 11178 \| LZTS1 \| DISEASES 7157 \| TP53 \| DISEASES 5546 \| PRCC \| DISEASES 23657 \| SLC7A11 \| DISEASES 55294 \| FBXW7 \| DISEASES 3856 \| KRT8 \| DISEASES 134288 \| TMEM174 \| DISEASES 9317 \| PTER \| DISEASES 1014 \| CDH16 \| DISEASES 79058 \| ASPSCR1 \| DISEASES 3872 \| KRT17 \| DISEASES 1163 \| CKS1B \| DISEASES 7030 \| TFE3 \| DISEASES 4928 \| NUP98 \| DISEASES 4233 \| MET \| DISEASES 27436 \| EML4 \| DISEASES 3855 \| KRT7 \| DISEASES 10320 \| IKZF1 \| DISEASES 2272 \| FHIT \| DISEASES 23405 \| DICER1 \| DISEASES 4771 \| NF2 \| DISEASES 7171 \| TPM4 \| DISEASES 6666 \| SOX12 \| DISEASES 1785 \| DNM2 \| DISEASES 2526 \| FUT4 \| DISEASES 3135 \| HLA-G \| DISEASES 4311 \| MME \| DISEASES 25925 \| ZNF521 \| DISEASES 3880 \| KRT19 \| DISEASES 779 \| CACNA1S \| DISEASES 2271 \| FH \| DISEASES 79577 \| CDC73 \| DISEASES 6391 \| SDHC \| DISEASES 7170 \| TPM3 \| DISEASES 639 \| PRDM1 \| DISEASES 4952 \| OCRL \| DISEASES 25 \| ABL1 \| DISEASES 6390 \| SDHB \| DISEASES 727837 \| SSX2B \| DISEASES 6392 \| SDHD \| DISEASES 768 \| CA9 \| DISEASES 2625 \| GATA3 \| DISEASES 23600 \| AMACR \| DISEASES 3875 \| KRT18 \| DISEASES 238 \| ALK \| DISEASES 3885 \| KRT34 \| DISEASES 55193 \| PBRM1 \| DISEASES 29072 \| SETD2 \| DISEASES 7849 \| PAX8 \| DISEASES 5076 \| PAX2 \| DISEASES 6760 \| SS18 \| DISEASES 11201 \| POLI \| DISEASES 7503 \| XIST \| DISEASES
Locus	(Waiting for update.)

Disease ID	1173
Disease	collecting duct carcinoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0003072 \| Hypercalcemia \| 1

Disease ID	1173
Disease	collecting duct carcinoma
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434419	16957682	658	BMPR1B	umls:C1266044	BeFree	Here, we describe a novel mutation in BMPR1B (R486Q) that is associated with either BDA2 or a BDC/SYM1-like phenotype.	0.000271442	2006	BMPR1B	4	95154621	G	A
rs121909348	18283415	8200	GDF5	umls:C1266044	BeFree	In one family affected with BDC, we identified a novel nonsense mutation, c.1461T > G (p.Y487X), which is predicted to truncate the GDF5 precursor protein by deleting 15 amino acids at its C-terminus.	0.001628651	2008	GDF5	20	35433954	A	C
rs140047318	16957682	658	BMPR1B	umls:C1266044	BeFree	Here, we describe a novel mutation in BMPR1B (R486Q) that is associated with either BDA2 or a BDC/SYM1-like phenotype.	0.000271442	2006	BMPR1B	4	95152757	G	A,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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