MCID: MTT001
MIFTS: 19

Metatypical Basal Cell Carcinoma

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Metatypical Basal Cell Carcinoma

MalaCards integrated aliases for Metatypical Basal Cell Carcinoma:

Name: Metatypical Basal Cell Carcinoma 12 15
Skin Metatypical Carcinoma 12 73
Skin Metatypical Basal Cell Carcinoma 12
Basosquamous Carcinoma of Skin 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4281
UMLS 73 C1883040

Summaries for Metatypical Basal Cell Carcinoma

Disease Ontology : 12 A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma.

MalaCards based summary : Metatypical Basal Cell Carcinoma, also known as skin metatypical carcinoma, is related to basosquamous carcinoma and basal cell carcinoma 1. An important gene associated with Metatypical Basal Cell Carcinoma is SLC12A2 (Solute Carrier Family 12 Member 2). The drugs Nivolumab and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotype is cardiovascular system.

Related Diseases for Metatypical Basal Cell Carcinoma

Diseases related to Metatypical Basal Cell Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 basosquamous carcinoma 30.1 IDO1 SLC12A2
2 basal cell carcinoma 1 10.7
3 basal cell carcinoma 10.7
4 klippel-trenaunay-weber syndrome 10.2

Symptoms & Phenotypes for Metatypical Basal Cell Carcinoma

MGI Mouse Phenotypes related to Metatypical Basal Cell Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.8 AGGF1 IDO1 SLC12A2

Drugs & Therapeutics for Metatypical Basal Cell Carcinoma

Drugs for Metatypical Basal Cell Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nivolumab Approved Phase 2 946414-94-4
2 Antibodies, Monoclonal Phase 2
3 Antibodies Phase 2
4 Immunoglobulins Phase 2
5 Immunologic Factors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Recruiting NCT02978625 Phase 2

Search NIH Clinical Center for Metatypical Basal Cell Carcinoma

Genetic Tests for Metatypical Basal Cell Carcinoma

Anatomical Context for Metatypical Basal Cell Carcinoma

MalaCards organs/tissues related to Metatypical Basal Cell Carcinoma:

41
Skin, Lung, Bone

Publications for Metatypical Basal Cell Carcinoma

Articles related to Metatypical Basal Cell Carcinoma:

# Title Authors Year
1
The curious case of a forehead metatypical basal cell carcinoma. ( 29940648 )
2018
2
Metatypical Basal Cell Carcinoma with Intravascular Invasion. ( 30533335 )
2018
3
Ulcerated Metatypical Basal Cell Carcinoma of the Forehead. ( 29104696 )
2017
4
Foot ulcers in klippel-trenaunay syndrome: two case reports and one metatypical Basal cell carcinoma. ( 26016963 )
2015
5
Basosquamous carcinoma and metatypical basal cell carcinoma: a review of treatment with Mohs micrographic surgery. ( 24961583 )
2014
6
Features of biopsy in diagnosis of metatypical basal cell carcinoma (Basosquamous Carcinoma) of head and neck. ( 23200564 )
2012
7
Metatypical basal cell carcinoma: a clinical review. ( 18992138 )
2008
8
Lung metastases in a case of metatypical basal cell carcinoma of the eyelid: an illustrative case and literature review to heighten vigilance of its metastatic potential. ( 18925916 )
2008
9
Guess what! Diagnosis: Extended ulcerating metatypical basal cell carcinoma (BCC) with soft tissue and bone destruction. ( 10939863 )
2000
10
Primary intracranial metatypical basal cell carcinoma: case report. ( 9218319 )
1997

Variations for Metatypical Basal Cell Carcinoma

Cosmic variations for Metatypical Basal Cell Carcinoma:

9 (show top 50) (show all 687)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 13
2 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 13
3 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 13
4 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 13
5 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 13
6 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 13
7 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 13
8 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 13
9 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 13
10 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 13
11 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 13
12 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 13
13 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 13
14 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 13
15 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 13
16 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 17:7674215-7674215 13
17 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 13
18 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 13
19 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 13
20 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 13
21 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 17:7674866-7674866 13
22 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 13
23 COSM43778 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 13
24 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 13
25 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 13
26 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 13
27 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 13
28 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 13
29 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 13
30 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 13
31 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 13
32 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 13
33 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 13
34 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 13
35 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 13
36 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 13
37 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 13
38 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 13
39 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 13
40 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 13
41 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 13
42 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 13
43 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 13
44 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 13
45 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 13
46 COSM44552 TP53 skin,NS,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 13
47 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 13
48 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 13
49 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 17:7674220-7674220 13
50 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 17:7675993-7675993 13

Expression for Metatypical Basal Cell Carcinoma

Search GEO for disease gene expression data for Metatypical Basal Cell Carcinoma.

Pathways for Metatypical Basal Cell Carcinoma

GO Terms for Metatypical Basal Cell Carcinoma

Sources for Metatypical Basal Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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