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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   adenoid cystic carcinoma
  

Disease ID 1579
Disease adenoid cystic carcinoma
Definition
Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)
Synonym
[m](adenoid cystic carcinoma) or (cylindroid adenocarcinoma) or (cylindroid bronchial adenoma) or (cylindroma nos)
[m](adenoid cystic carcinoma) or (cylindroid adenocarcinoma) or (cylindroid bronchial adenoma) or (cylindroma nos) (disorder)
[m]adenoid cystic carcinoma
[m]cylindroid adenocarcinoma
[m]cylindroid bronchial adenoma
[m]cylindroma nos
adenocarcinoma, cylindroid
adenocystic carcinoma
adenocystic carcinomas
adenoid cystic cancer
adenoid cystic carcinoma (morphologic abnormality)
adenoid cystic carcinomas
bronchial adenoma, cylindroid
carcinoma adenoid cystic
carcinoma, adenocystic
carcinoma, adenoid cystic
carcinoma, adenoid cystic [disease/finding]
carcinomas, adenocystic
carcinomas, adenoid cystic
cylindroid adenocarcinoma
cylindroid bronchial adenoma
cylindroma
cylindroma (except cylindroma of skin, m-82000)
cylindroma (morphologic abnormality)
cylindroma, nos (except cylindroma of skin, m-82000)
cylindromas
cystic carcinoma, adenoid
cystic carcinomas, adenoid
DOID
UMLS
C0010606
MeSH
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:15)
C0153676  |  lung metastasis  |  3
C1857941  |  brooke-spiegler syndrome  |  3
C0001430  |  adenoma  |  2
C0007104  |  carcinoma of the breast  |  1
C0220650  |  brain metastases  |  1
C0334347  |  spiradenomas  |  1
C0036091  |  sialolithiasis  |  1
C0205969  |  thymic carcinoma  |  1
C0040053  |  thrombosis  |  1
C0334347  |  spiradenoma  |  1
C0007137  |  epidermoid carcinoma  |  1
C0153687  |  skin metastases  |  1
C0206694  |  mucoepidermoid carcinoma  |  1
C0026277  |  pleomorphic adenoma  |  1
C0016436  |  folliculitis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:99)
5605  |  MAP2K2  |  CTD_human
595  |  CCND1  |  CTD_human
5728  |  PTEN  |  CTD_human
8243  |  SMC1A  |  CTD_human
284058  |  KANSL1  |  CTD_human
2309  |  FOXO3  |  CTD_human
58508  |  KMT2C  |  CTD_human
7157  |  TP53  |  CTD_human
55783  |  CMTR2  |  CTD_human
93986  |  FOXP2  |  CTD_human
81029  |  WNT5B  |  CTD_human
9223  |  MAGI1  |  CTD_human
3265  |  HRAS  |  CTD_human
8289  |  ARID1A  |  CTD_human
29072  |  SETD2  |  CTD_human
1387  |  CREBBP  |  CTD_human
259266  |  ASPM  |  CTD_human
6659  |  SOX4  |  CTD_human
7994  |  KAT6A  |  CTD_human
23135  |  KDM6B  |  CTD_human
7403  |  KDM6A  |  CTD_human
4851  |  NOTCH1  |  CTD_human
5591  |  PRKDC  |  CTD_human
546  |  ATRX  |  CTD_human
3691  |  ITGB4  |  CTD_human
64324  |  NSD1  |  CTD_human
472  |  ATM  |  CTD_human
2033  |  EP300  |  CTD_human
2195  |  FAT1  |  CTD_human
358  |  AQP1  |  CTD_human
7153  |  TOP2A  |  CTD_human
6595  |  SMARCA2  |  CTD_human
5290  |  PIK3CA  |  CTD_human
23543  |  RBFOX2  |  CTD_human
1612  |  DAPK1  |  CTD_human
4082  |  MARCKS  |  CTD_human
54880  |  BCOR  |  CTD_human
10847  |  SRCAP  |  CTD_human
6605  |  SMARCE1  |  CTD_human
8823  |  FGF16  |  CTD_human
999  |  CDH1  |  CTD_human
53335  |  BCL11A  |  CTD_human
4613  |  MYCN  |  CTD_human
63035  |  BCORL1  |  CTD_human
2175  |  FANCA  |  CTD_human
182  |  JAG1  |  CTD_human
3852  |  KRT5  |  CTD_human
2982  |  GUCY1A3  |  CTD_human
5834  |  PYGB  |  CTD_human
672  |  BRCA1  |  CTD_human
54756  |  IL17RD  |  CTD_human
55534  |  MAML3  |  CTD_human
2264  |  FGFR4  |  CTD_human
55294  |  FBXW7  |  CTD_human
3645  |  INSRR  |  CTD_human
5174  |  PDZK1  |  CTD_human
84159  |  ARID5B  |  CTD_human
57419  |  SLC24A3  |  CTD_human
5176  |  SERPINF1  |  CTD_human
3008  |  HIST1H1E  |  CTD_human
23209  |  MLC1  |  CTD_human
1462  |  VCAN  |  CTD_human
81831  |  NETO2  |  CTD_human
27255  |  CNTN6  |  CTD_human
2621  |  GAS6  |  CTD_human
2620  |  GAS2  |  CTD_human
9874  |  TLK1  |  CTD_human
23774  |  BRD1  |  CTD_human
2019  |  EN1  |  CTD_human
51514  |  DTL  |  CTD_human
51477  |  ISYNA1  |  CTD_human
4602  |  MYB  |  CTD_human
9700  |  ESPL1  |  CTD_human
8332  |  HIST1H2AL  |  CTD_human
653220  |  XAGE1B  |  CTD_human
54441  |  STAG3L1  |  CTD_human
6664  |  SOX11  |  CTD_human
23619  |  ZIM2  |  CTD_human
80303  |  EFHD1  |  CTD_human
27344  |  PCSK1N  |  CTD_human
54531  |  MIER2  |  CTD_human
23269  |  MGA  |  CTD_human
29128  |  UHRF1  |  CTD_human
3485  |  IGFBP2  |  CTD_human
26292  |  MYCBP  |  CTD_human
9863  |  MAGI2  |  CTD_human
50805  |  IRX4  |  CTD_human
6484  |  ST3GAL4  |  CTD_human
4603  |  MYBL1  |  CTD_human
4781  |  NFIB  |  CTD_human
6651  |  SON  |  CTD_human
51742  |  ARID4B  |  CTD_human
51659  |  GINS2  |  CTD_human
23220  |  DTX4  |  CTD_human
10933  |  MORF4L1  |  CTD_human
2011  |  MARK2  |  CTD_human
9454  |  HOMER3  |  CTD_human
3866  |  KRT15  |  CTD_human
221037  |  JMJD1C  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1579
Disease adenoid cystic carcinoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:6)
HP:0002664  |  Neoplasia  |  7
HP:0030731  |  Carcinoma  |  2
HP:0002835  |  Aspiration  |  2
HP:0003764  |  Naevus  |  1
HP:0002202  |  Pleural effusion  |  1
HP:0002015  |  Swallowing difficulty  |  1
Disease ID 1579
Disease adenoid cystic carcinoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:9)
C2248595  |  dedifferentiation
C0686619  |  lymph node metastases
C0494165  |  liver metastasis
C0241426  |  glossopyrosis
C0220650  |  brain metastases
C0153676  |  pulmonary metastases
C0153676  |  lung metastases
C0029896  |  ent disease
C0024232  |  lymphatic metastasis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:4)
C1857941  |  brooke-spiegler syndrome  |  2
C0024232  |  lymphatic metastasis  |  1
C0002793  |  dedifferentiation  |  1
C0220650  |  brain metastases  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:6)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121913529193620422678GGT1umls:C0010606BeFreeKRAS mutation analysis was performed by direct genomic sequencing and revealed a KRAS wildtype in 98.5% except of one adenoid cystic carcinoma with a GGT-GAT transition at codon 12 (Gly12Asp).0.0002714422009KRAS1225245350CT,G,A
rs12191352919362042728441GGT2umls:C0010606BeFreeKRAS mutation analysis was performed by direct genomic sequencing and revealed a KRAS wildtype in 98.5% except of one adenoid cystic carcinoma with a GGT-GAT transition at codon 12 (Gly12Asp).0.0002714422009KRAS1225245350CT,G,A
rs12191352919362042728226GGTLC3umls:C0010606BeFreeKRAS mutation analysis was performed by direct genomic sequencing and revealed a KRAS wildtype in 98.5% except of one adenoid cystic carcinoma with a GGT-GAT transition at codon 12 (Gly12Asp).0.0002714422009KRAS1225245350CT,G,A
rs121913529193620423845KRASumls:C0010606BeFreeKRAS mutation analysis was performed by direct genomic sequencing and revealed a KRAS wildtype in 98.5% except of one adenoid cystic carcinoma with a GGT-GAT transition at codon 12 (Gly12Asp).0.0002714422009KRAS1225245350CT,G,A
rs12191352919362042653590GGTLC5Pumls:C0010606BeFreeKRAS mutation analysis was performed by direct genomic sequencing and revealed a KRAS wildtype in 98.5% except of one adenoid cystic carcinoma with a GGT-GAT transition at codon 12 (Gly12Asp).0.0002714422009KRAS1225245350CT,G,A
rs12191352919362042729838GGTLC4Pumls:C0010606BeFreeKRAS mutation analysis was performed by direct genomic sequencing and revealed a KRAS wildtype in 98.5% except of one adenoid cystic carcinoma with a GGT-GAT transition at codon 12 (Gly12Asp).0.0002714422009KRAS1225245350CT,G,A
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.)
Disease ID 1579
Disease adenoid cystic carcinoma
Case(Waiting for update.)