MCID: MTT001
MIFTS: 33

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 71
Skin Metatypical Basal Cell Carcinoma 12
Basosquamous Carcinoma of Skin 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4281
UMLS 71 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 skin benign neoplasm. An important gene associated with Metatypical Basal Cell Carcinoma is SLC12A2 (Solute Carrier Family 12 Member 2), and among its related pathways/superpathways is Wnt / Hedgehog / Notch. Affiliated tissues include skin, bone and lung, and related phenotypes are cardiovascular system and cellular

Related Diseases for Metatypical Basal Cell Carcinoma

Graphical network of the top 20 diseases related to Metatypical Basal Cell Carcinoma:



Diseases related to Metatypical Basal Cell Carcinoma

Symptoms & Phenotypes for Metatypical Basal Cell Carcinoma

MGI Mouse Phenotypes related to Metatypical Basal Cell Carcinoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 AGGF1 IDO1 LATS1 PTCH1 PTGER4 PTPN14
2 cellular MP:0005384 9.8 AGGF1 CD34 IDO1 LATS1 PTCH1 PTGER4
3 homeostasis/metabolism MP:0005376 9.8 CD34 IDO1 LATS1 PTCH1 PTGER4 PTPN14
4 immune system MP:0005387 9.63 CD34 IDO1 LATS1 PTCH1 PTGER4 PTPN14
5 neoplasm MP:0002006 9.35 AGGF1 CD34 LATS1 PTCH1 PTGER4
6 reproductive system MP:0005389 9.02 IDO1 LATS1 PTCH1 PTPN14 SLC12A2

Drugs & Therapeutics for Metatypical Basal Cell Carcinoma

Search Clinical Trials , 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:

40
Skin, Bone, Lung

Publications for Metatypical Basal Cell Carcinoma

Articles related to Metatypical Basal Cell Carcinoma:

(show all 22)
# Title Authors PMID Year
1
Metatypical Basal Cell Carcinoma: A 6-Year Retrospective Study. 61
30888944 2019
2
Complex regional pain syndrome as a paraneoplastic disorder associated with metatypical basal cell carcinoma. 61
31658345 2019
3
Extensive bony metastases from facial metatypical basal cell carcinoma: a case report. 61
30598320 2019
4
Metatypical Basal Cell Carcinoma with Intravascular Invasion. 61
30533335 2018
5
Eruptive Basaliomas: "Why we have to Perform Surgery?" Or Said Otherwise: "Catch The Metatypical!" 61
30159071 2018
6
CUTANEOUS POLYPOID MELANOMA OF HEAD AND NECK. 61
29905548 2018
7
Primary basosquamous carcinoma of the lower eyelid with ocular invasion A case report. 61
29626183 2018
8
The curious case of a forehead metatypical basal cell carcinoma. 61
29940648 2018
9
Ulcerated Metatypical Basal Cell Carcinoma of the Forehead. 61
29104696 2017
10
Basosquamous Carcinoma: Controversy, Advances, and Future Directions. 61
27340741 2017
11
The Use of a Polyetheretherketone (PEEK) Implant to Reconstruct the Midface Region. 61
25393902 2016
12
Foot ulcers in klippel-trenaunay syndrome: two case reports and one metatypical Basal cell carcinoma. 61
26016963 2015
13
Relapsing advanced metatypical basal cell carcinomas (MTBCC) of the face: surgical modalities. 61
25274011 2014
14
Basosquamous carcinoma and metatypical basal cell carcinoma: a review of treatment with Mohs micrographic surgery. 61
24961583 2014
15
Metatypical Basal cell carcinomas: a successful surgical approach to two cases with different tumor locations. 61
25553132 2014
16
Features of biopsy in diagnosis of metatypical basal cell carcinoma (Basosquamous Carcinoma) of head and neck. 61
23200564 2012
17
[Metatypical basal-cell carcinoma (MTC) or basosquamos carcinoma (BSC): surgical therapy]. 61
21988047 2011
18
Basosquamous carcinoma. 61
19103364 2009
19
Metatypical basal cell carcinoma: a clinical review. 61
18992138 2008
20
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. 61
18925916 2008
21
Guess what! Diagnosis: Extended ulcerating metatypical basal cell carcinoma (BCC) with soft tissue and bone destruction. 61
10939863 2000
22
Primary intracranial metatypical basal cell carcinoma: case report. 61
9218319 1997

Variations for Metatypical Basal Cell Carcinoma

Cosmic variations for Metatypical Basal Cell Carcinoma:

9 (show top 50) (show all 3426)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM149268805 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 9
2 COSM149259613 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 9
3 COSM149268792 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 9
4 COSM149268800 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 9
5 COSM149304906 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 9
6 COSM149331772 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 9
7 COSM149266372 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 9
8 COSM101976974 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 9
9 COSM87040659 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 9
10 COSM87027025 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 9
11 COSM87028684 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 9
12 COSM90144180 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 9
13 COSM88644633 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 9
14 COSM87925664 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159= 17:7675135-7675135 9
15 COSM87919454 TP53 skin,NS,carcinoma,basal cell carcinoma c.395A>T p.K132M 17:7675217-7675217 9
16 COSM88272290 TP53 skin,NS,carcinoma,basal cell carcinoma c.480G>C p.M160I 17:7675132-7675132 9
17 COSM87898709 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 9
18 COSM87910628 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 9
19 COSM88387703 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 9
20 COSM87963219 TP53 skin,NS,carcinoma,basal cell carcinoma c.292C>T p.P98S 17:7676077-7676077 9
21 COSM87929396 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 9
22 COSM87898723 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 9
23 COSM88310572 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 9
24 COSM87898714 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 9
25 COSM87898991 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 9
26 COSM88408340 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 9
27 COSM87906968 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 17:7673787-7673787 9
28 COSM87910495 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 9
29 COSM87899497 TP53 skin,NS,carcinoma,basal cell carcinoma c.586C>T p.R196* 17:7674945-7674945 9
30 COSM87906130 TP53 skin,NS,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 9
31 COSM87919200 TP53 skin,NS,carcinoma,basal cell carcinoma c.511G>C p.E171Q 17:7675101-7675101 9
32 COSM87944274 TP53 skin,NS,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 9
33 COSM87921224 TP53 skin,NS,carcinoma,basal cell carcinoma c.835G>A p.G279R 17:7673785-7673785 9
34 COSM87898567 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>T p.P250S 17:7674215-7674215 9
35 COSM87900980 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 9
36 COSM87947692 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 17:7674193-7674193 9
37 COSM87957813 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 17:7674226-7674226 9
38 COSM87904406 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 9
39 COSM87917387 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 9
40 COSM87932688 TP53 skin,NS,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 9
41 COSM87903307 TP53 skin,NS,carcinoma,basal cell carcinoma c.841G>A p.D281N 17:7673779-7673779 9
42 COSM87905687 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 9
43 COSM87899661 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 17:7673823-7673823 9
44 COSM87908365 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 9
45 COSM87961406 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 9
46 COSM87918616 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 9
47 COSM87897745 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 9
48 COSM87911563 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 9
49 COSM87922049 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 9
50 COSM87898431 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 9

Expression for Metatypical Basal Cell Carcinoma

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

Pathways for Metatypical Basal Cell Carcinoma

Pathways related to Metatypical Basal Cell Carcinoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.06 PTPN14 PTCH1 LATS1

GO Terms for Metatypical Basal Cell Carcinoma

Cellular components related to Metatypical Basal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell periphery GO:0071944 8.96 SLC12A2 CD34
2 basal plasma membrane GO:0009925 8.62 SLC12A2 CD34

Biological processes related to Metatypical Basal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to mechanical stimulus GO:0009612 8.96 PTGER4 PTCH1
2 mammary gland epithelial cell differentiation GO:0060644 8.62 PTCH1 LATS1

Sources for Metatypical Basal Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
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
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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