MCID: SML041
MIFTS: 27

Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Categories: Cancer diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

MalaCards integrated aliases for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

Name: Small-Cell Carcinoma of the Ovary of Hypercalcemic Type 12
Hypercalcemic Type Ovarian Small Cell Carcinoma 12 15
Small Cell Carcinoma of the Ovary, Hypercalcemic Type 6

Classifications:



External Ids:

Disease Ontology 12 DOID:7651
NCIt 49 C40439
UMLS 71 C1518736

Summaries for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Disease Ontology : 12 An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia.

MalaCards based summary : Small-Cell Carcinoma of the Ovary of Hypercalcemic Type, also known as hypercalcemic type ovarian small cell carcinoma, is related to rare tumor and small cell carcinoma. An important gene associated with Small-Cell Carcinoma of the Ovary of Hypercalcemic Type is SMARCA4 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4). The drugs nivolumab and Ipilimumab have been mentioned in the context of this disorder. Affiliated tissues include ovary, and related phenotype is neoplasm.

Related Diseases for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Diseases related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 rare tumor 10.5
2 small cell carcinoma 10.5
3 ovarian small cell carcinoma 10.5
4 rhabdoid cancer 10.4
5 rhabdoid tumor predisposition syndrome 1 10.2
6 rhabdoid tumor predisposition syndrome 2 10.2
7 atypical teratoid rhabdoid tumor 10.2
8 li-fraumeni syndrome 10.2
9 ovarian cancer 10.2
10 li-fraumeni syndrome 2 10.2
11 pelvic inflammatory disease 10.2
12 liposarcoma 10.2
13 infertility 10.2
14 pleomorphic liposarcoma 10.2
15 juvenile type testicular granulosa cell tumor 10.2
16 47,xyy 10.2
17 uterine sarcoma 10.2
18 sex cord-gonadal stromal tumor 10.1
19 acute promyelocytic leukemia 9.2 SMARCA4 CD34

Graphical network of the top 20 diseases related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:



Diseases related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Symptoms & Phenotypes for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

MGI Mouse Phenotypes related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 CD34 SMARCA4

Drugs & Therapeutics for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Drugs for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
nivolumab Approved Phase 2 946414-94-4
2
Ipilimumab Approved Phase 2 477202-00-9
3 lysine Phase 2
4 Antineoplastic Agents, Immunological Phase 2
5 Antibodies, Monoclonal Phase 2
6 Antibodies Phase 2
7 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma Recruiting NCT02601950 Phase 2 Tazemetostat
2 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
3 Tazemetostat Expanded Access Program for Adults With Solid Tumors Temporarily not available NCT03874455 Tazemetostat

Search NIH Clinical Center for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Genetic Tests for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Anatomical Context for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

MalaCards organs/tissues related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

40
Ovary

Publications for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Articles related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

# Title Authors PMID Year
1
The dilemma of early preventive oophorectomy in familial small cell carcinoma of the ovary of hypercalcemic type. 61
30886884 2019
2
Ovarian small cell carcinoma in one of a pair of monozygous twins. 61
30284660 2019
3
Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (Malignant Rhabdoid Tumor of the Ovary): A Review with Recent Developments on Pathogenesis. 61
27241105 2016
4
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. 61
24658001 2014
5
Small cell carcinoma of the ovary of hypercalcemic type: a case report. 61
22424359 2012
6
Small cell carcinoma of the ovary of hypercalcemic type: a case report. 61
23346438 2012
7
Hypercalcemic-type ovarian small cell carcinoma with unique CD34 expression. 61
19788625 2009
8
Small cell carcinoma of the ovary associated with ins(10;5)(p13;q31q13). 61
7923090 1994

Variations for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

ClinVar genetic disease variations for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TP53 NM_000546.5(TP53):c.594_611del (p.Gly199_Glu204del)deletion Likely pathogenic 560921 rs1567551704 17:7578238-7578255 17:7674920-7674937

Cosmic variations for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

9 (show top 50) (show all 660)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM91385090 WT1 ovary,NS,carcinoma,small cell carcinoma c.1240A>C p.K414Q 11:32396266-32396266 9
2 COSM87905712 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.775G>T p.D259Y 17:7674188-7674188 9
3 COSM87929008 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.584T>A p.I195N 17:7674947-7674947 9
4 COSM87897745 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.524G>A p.R175H 17:7675088-7675088 9
5 COSM87909792 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.919+1G>T p.? 17:7673700-7673700 9
6 COSM87897711 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.818G>A p.R273H 17:7673802-7673802 9
7 COSM87912901 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.376-2A>G p.? 17:7675238-7675238 9
8 COSM87905212 TP53 ovary,NS,carcinoma,small cell carcinoma c.761T>A p.I254N 17:7674202-7674202 9
9 COSM87897627 TP53 ovary,NS,carcinoma,undifferentiated carcinoma c.574C>T p.Q192* 17:7674957-7674957 9
10 COSM87898714 TP53 ovary,NS,carcinoma,small cell carcinoma c.844C>T p.R282W 17:7673776-7673776 9
11 COSM89660520 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3168+1G>C p.? 19:11025509-11025509 9
12 COSM89654758 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2275-1G>T p.? 19:11012948-11012948 9
13 COSM89651448 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3496C>T p.Q1166* 19:11030843-11030843 9
14 COSM89654889 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1761+1G>A p.? 19:10996381-10996381 9
15 COSM89670353 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.561C>G p.Y187* 19:10986394-10986394 9
16 COSM89666940 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3546+1G>A p.? 19:11030894-11030894 9
17 COSM89668454 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1419+1G>T p.? 19:10991324-10991324 9
18 COSM89658278 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2439-2A>T p.? 19:11018955-11018955 9
19 COSM89651635 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3277C>T p.R1093* 19:11027845-11027845 9
20 COSM89666925 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3760G>T p.E1254* 19:11033503-11033503 9
21 COSM89670936 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2859+1G>A p.? 19:11021968-11021968 9
22 COSM89658270 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2438+1G>A p.? 19:11013113-11013113 9
23 COSM89655012 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2973+1G>A p.? 19:11023632-11023632 9
24 COSM89658287 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1378C>T p.Q460* 19:10991282-10991282 9
25 COSM89668792 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.4170+1G>A p.? 19:11035133-11035133 9
26 COSM89670944 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3565C>T p.R1189* 19:11033308-11033308 9
27 COSM89669008 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1245+1G>T p.? 19:10989444-10989444 9
28 COSM89660509 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2915T>C p.L972P 19:11023573-11023573 9
29 COSM89670368 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1761+2T>A p.? 19:10996382-10996382 9
30 COSM89650481 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3676C>T p.Q1226* 19:11033419-11033419 9
31 COSM89659508 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3546+1G>T p.? 19:11030894-11030894 9
32 COSM89653644 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.991C>T p.Q331* 19:10987797-10987797 9
33 COSM89653475 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3168+1G>A p.? 19:11025509-11025509 9
34 COSM89654894 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2539C>T p.Q847* 19:11019624-11019624 9
35 COSM89668803 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2506G>T p.G836* 19:11019591-11019591 9
36 COSM89670359 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2362C>T p.Q788* 19:11013036-11013036 9
37 COSM97072552 PTPRT ovary,NS,carcinoma,small cell carcinoma c.3814C>G p.L1272V 20:42098510-42098510 9
38 COSM90607728 POLE ovary,NS,carcinoma,small cell carcinoma c.861T>A p.D287E 12:132676594-132676594 9
39 COSM129136451 KMT2A ovary,NS,carcinoma,small cell carcinoma c.9014A>T p.D3005V 11:118504906-118504906 9
40 COSM93210112 ovary,NS,carcinoma,undifferentiated carcinoma c.584T>A p.I195N 17:7674947-7674947 9
41 COSM105626718 ovary,NS,carcinoma,small cell carcinoma c.761T>A p.I254N 17:7674202-7674202 9
42 COSM131034075 ovary,NS,carcinoma,small cell carcinoma c.2362C>T p.Q788* 19:11013036-11013036 9
43 COSM112265718 ovary,NS,carcinoma,undifferentiated carcinoma c.376-2A>G p.? 17:7675238-7675238 9
44 COSM148052745 ovary,NS,carcinoma,small cell carcinoma c.2275-1G>T p.? 19:11012948-11012948 9
45 COSM151629014 ovary,NS,carcinoma,small cell carcinoma c.3546+1G>A p.? 19:11030894-11030894 9
46 COSM151620795 ovary,NS,carcinoma,small cell carcinoma c.3496C>T p.Q1166* 19:11030843-11030843 9
47 COSM109730347 ovary,NS,carcinoma,small cell carcinoma c.991C>T p.Q331* 19:10987797-10987797 9
48 COSM143944155 ovary,NS,carcinoma,small cell carcinoma c.367C>T p.R123W 17:7673776-7673776 9
49 COSM151424425 ovary,NS,carcinoma,small cell carcinoma c.2915T>C p.L972P 19:11023573-11023573 9
50 COSM151419262 ovary,NS,carcinoma,small cell carcinoma c.3277C>T p.R1093* 19:11027845-11027845 9

Expression for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Search GEO for disease gene expression data for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type.

Pathways for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

GO Terms for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Molecular functions related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 8.62 SMARCA4 CD34

Sources for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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30 HMDB
31 HPO
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33 ICD10 via Orphanet
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35 IUPHAR
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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
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70 Tocris
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72 UMLS via Orphanet
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