MCID: CRV013
MIFTS: 33

Cervical Adenoid Cystic Carcinoma

Categories: Cancer diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Cervical Adenoid Cystic Carcinoma

MalaCards integrated aliases for Cervical Adenoid Cystic Carcinoma:

Name: Cervical Adenoid Cystic Carcinoma 12 59 15 17 72
Adenoid Cystic Carcinoma of the Cervix Uteri 12 59

Classifications:



External Ids:

Disease Ontology 12 DOID:4867
NCIt 50 C6346
ICD10 via Orphanet 34 C53.0 C53.1 C53.8
Orphanet 59 ORPHA213823
UMLS 72 C1332911

Summaries for Cervical Adenoid Cystic Carcinoma

Disease Ontology : 12 A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli.

MalaCards based summary : Cervical Adenoid Cystic Carcinoma, also known as adenoid cystic carcinoma of the cervix uteri, is related to adenoid cystic carcinoma and squamous cell carcinoma, and has symptoms including pain An important gene associated with Cervical Adenoid Cystic Carcinoma is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. Affiliated tissues include cervix and salivary gland, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Cervical Adenoid Cystic Carcinoma

Graphical network of the top 20 diseases related to Cervical Adenoid Cystic Carcinoma:



Diseases related to Cervical Adenoid Cystic Carcinoma

Symptoms & Phenotypes for Cervical Adenoid Cystic Carcinoma

UMLS symptoms related to Cervical Adenoid Cystic Carcinoma:


pain

GenomeRNAi Phenotypes related to Cervical Adenoid Cystic Carcinoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.17 CDKN2A KIT
2 Decreased viability GR00221-A-3 9.17 CDKN2A
3 Decreased viability GR00221-A-4 9.17 CDKN2A
4 Decreased viability GR00301-A 9.17 KIT
5 Decreased viability GR00402-S-2 9.17 CDKN2A KIT

MGI Mouse Phenotypes related to Cervical Adenoid Cystic Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 CDKN2A KIT

Drugs & Therapeutics for Cervical Adenoid Cystic Carcinoma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chidamide for Advanced Cephalic and Cervical Adenocystic Carcinoma: Evaluation of Efficiency and Safety Recruiting NCT02883374 Phase 2 Chidamide

Search NIH Clinical Center for Cervical Adenoid Cystic Carcinoma

Genetic Tests for Cervical Adenoid Cystic Carcinoma

Anatomical Context for Cervical Adenoid Cystic Carcinoma

MalaCards organs/tissues related to Cervical Adenoid Cystic Carcinoma:

41
Cervix, Salivary Gland

Publications for Cervical Adenoid Cystic Carcinoma

Articles related to Cervical Adenoid Cystic Carcinoma:

(show all 12)
# Title Authors PMID Year
1
Aquaporins 1, 3 and 5 in Different Tumors, their Expression, Prognosis Value and Role as New Therapeutic Targets. 38
30927206 2019
2
Adenoid basal carcinoma of the uterine cervix: clinicopathologic features of 12 cases with reference to CD117 expression. 38
22123720 2012
3
Cytologic characteristics of adenoid cystic carcinoma of the cervix uteri--case report. 38
20432755 2010
4
[Clinical analysis of 38 patients with cephalic and cervical adenoid cystic carcinoma]. 38
16494039 2005
5
Cervical adenoid cystic carcinoma coexisting with multiple human papillomavirus-associated genital lesions. A common etiology? 38
10352392 1999
6
A case of uterine cervical adenoid cystic carcinoma: immunohistochemical study for basement membrane material. 38
7724157 1995
7
Adenoid cystic carcinoma of the uterine cervix. Cytologic features. 38
2157320 1990
8
Cervical adenoid cystic carcinoma associated with ascites. 38
2996994 1985
9
Adenoid cystic carcinoma of the uterine cervix: ultrastructure, immunofluorescence, and criteria for diagnosis. 38
6176118 1982
10
[Case of adenoid cystic carcinoma of the cervix uteri coexistent with squamous cell carcinoma]. 38
542348 1979
11
Adenoid cystic carcinoma of the cervix uteri: report of six cases and review of the literature. 38
221309 1979
12
Cytologic characteristics of adenoid cystic carcinoma of the cervix uteri. 38
180737 1976

Variations for Cervical Adenoid Cystic Carcinoma

Cosmic variations for Cervical Adenoid Cystic Carcinoma:

9 (show top 50) (show all 427)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM1658882 ZNF507 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.34C>A p.P12T 19:32352864-32352864 3
2 COSM1659071 WASF2 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.15G>T p.T5T 1:27428876-27428876 3
3 COSM1658927 VWA8 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.4027G>A p.E1343K 13:41689458-41689458 3
4 COSM1658946 VWA5B1 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.1486G>A p.V496I 1:20330897-20330897 3
5 COSM1658865 UNC80 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.305A>G p.Q102R 2:209777264-209777264 3
6 COSM1659040 UBTF salivary gland,NS,carcinoma,adenoid cystic carcinoma c.100A>C p.M34L 17:44216663-44216663 3
7 COSM1659017 UBTF salivary gland,NS,carcinoma,adenoid cystic carcinoma c.106A>T p.N36Y 17:44216657-44216657 3
8 COSM1659032 TXNRD3 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.412A>G p.K138E 3:126647293-126647293 3
9 COSM6939530 TSC2 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.2402C>T p.A801V 16:2074246-2074246 3
10 COSM6939527 TSC1 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.2684T>A p.V895D 9:132897552-132897552 3
11 COSM1659053 TSC1 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.3280G>T p.E1094* 9:132896450-132896450 3
12 COSM1659031 TRPV5 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.554A>G p.H185R 7:142929054-142929054 3
13 COSM1658989 TP53BP1 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.3854C>G p.T1285S 15:43422086-43422086 3
14 COSM43878 TP53 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.427G>A p.V143M 17:7675185-7675185 3
15 COSM10777 TP53 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.715A>G p.N239D 17:7674248-7674248 3
16 COSM43614 TP53 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.854A>C p.E285A 17:7673766-7673766 3
17 COSM10656 TP53 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.742C>T p.R248W 17:7674221-7674221 3
18 COSM10662 TP53 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.743G>A p.R248Q 17:7674220-7674220 3
19 COSM10705 TP53 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.586C>T p.R196* 17:7674945-7674945 3
20 COSM11059 TP53 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.713G>A p.C238Y 17:7674250-7674250 3
21 COSM1659070 TOMM34 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.555T>A p.P185P 20:44948873-44948873 3
22 COSM1658929 TOM1L2 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.259G>A p.V87I 17:17884726-17884726 3
23 COSM34221 TIE1 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.2050G>C p.A684P 1:43313257-43313257 3
24 COSM1659046 THRA salivary gland,NS,carcinoma,adenoid cystic carcinoma c.1162C>T p.R388W 17:40093071-40093071 3
25 COSM1658909 TFAP2D salivary gland,NS,carcinoma,adenoid cystic carcinoma c.1306C>T p.R436W 6:50772811-50772811 3
26 COSM6935085 TENT5C salivary gland,NS,carcinoma,adenoid cystic carcinoma c.833T>A p.F278Y 1:117623701-117623701 3
27 COSM6975881 TCF7L2 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.814C>T p.P272S 10:113151005-113151005 3
28 COSM6968747 TBX3 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.1528C>T p.Q510* 12:114674407-114674407 3
29 COSM1659024 TBC1D31 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.845T>A p.L282Q 8:123100820-123100820 3
30 COSM1658982 TANGO6 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.352G>C p.G118R 16:68907540-68907540 3
31 COSM1658994 SUPT5H salivary gland,NS,carcinoma,adenoid cystic carcinoma c.1094G>T p.R365L 19:39468812-39468812 3
32 COSM1658977 STXBP3 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.1275G>C p.R425S 1:108796645-108796645 3
33 COSM6939534 STAG2 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.2405T>G p.I802S 23:124071195-124071195 3
34 COSM3863360 SPEN salivary gland,NS,carcinoma,adenoid cystic carcinoma c.4207C>T p.R1403* 1:15930447-15930447 3
35 COSM6939532 SOX9 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.1457T>A p.V486D 17:72124314-72124314 3
36 COSM1659068 SOX6 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.630T>C p.D210D 11:16186861-16186861 3
37 COSM6939526 SMO salivary gland,NS,carcinoma,adenoid cystic carcinoma c.385G>C p.V129L 7:129203437-129203437 3
38 COSM4728291 SMARCA4 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.2372C>T p.A791V 19:11013046-11013046 3
39 COSM1659007 SMARCA2 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.3476G>T p.R1159L 9:2115841-2115841 3
40 COSM1659023 SMARCA2 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.4582T>A p.S1528T 9:2186216-2186216 3
41 COSM1658954 SMARCA2 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.2564G>A p.R855Q 9:2086866-2086866 3
42 COSM1658856 SLC66A1 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.719A>C p.E240A 1:19327327-19327327 3
43 COSM1658912 SLC26A2 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.1474C>T p.R492W 5:149981067-149981067 3
44 COSM1659026 SLC26A11 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.1196T>C p.F399S 17:80246551-80246551 3
45 COSM1659093 SLC25A13 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.888G>A p.L296L 7:96189339-96189339 3
46 COSM1658992 SLC15A5 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.925C>G p.L309V 12:16244630-16244630 3
47 COSM1658944 SIK2 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.1387G>A p.E463K 11:111719895-111719895 3
48 COSM6915408 SF3B1 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.3254C>T p.A1085V 2:197397997-197397997 3
49 COSM1658998 SF3B1 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.1873C>A p.R625S 2:197402760-197402760 3
50 COSM110695 SF3B1 salivary gland,NS,carcinoma,adenoid cystic carcinoma c.1874G>T p.R625L 2:197402759-197402759 3

Expression for Cervical Adenoid Cystic Carcinoma

Search GEO for disease gene expression data for Cervical Adenoid Cystic Carcinoma.

Pathways for Cervical Adenoid Cystic Carcinoma

Pathways related to Cervical Adenoid Cystic Carcinoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.9 KIT CDKN2A
2 11.68 KIT CDKN2A
3
Show member pathways
11.29 KIT CDKN2A

GO Terms for Cervical Adenoid Cystic Carcinoma

Biological processes related to Cervical Adenoid Cystic Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 8.96 KIT CDKN2A
2 somatic stem cell division GO:0048103 8.62 KIT CDKN2A

Sources for Cervical Adenoid Cystic Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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