MCID: PGM002
MIFTS: 33

Pigmented Basal Cell Carcinoma

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Pigmented Basal Cell Carcinoma

MalaCards integrated aliases for Pigmented Basal Cell Carcinoma:

Name: Pigmented Basal Cell Carcinoma 12 15 74
Skin Pigmented Basal Cell Carcinoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4282
UMLS 74 C1368275

Summaries for Pigmented Basal Cell Carcinoma

Disease Ontology : 12 A basal cell carcinoma characterized by brown or black pigmentation.

MalaCards based summary : Pigmented Basal Cell Carcinoma, also known as skin pigmented basal cell carcinoma, is related to basal cell carcinoma 1 and basal cell carcinoma. An important gene associated with Pigmented Basal Cell Carcinoma is MITF (Melanocyte Inducing Transcription Factor), and among its related pathways/superpathways is FoxO family signaling. Affiliated tissues include skin, bone and eye, and related phenotypes are endocrine/exocrine gland and craniofacial

Related Diseases for Pigmented Basal Cell Carcinoma

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 1 10.8
2 basal cell carcinoma 10.8
3 melanoma 10.4
4 albinism, ocular, with late-onset sensorineural deafness 10.3 MITF TYR
5 albinism, ocular, with sensorineural deafness 10.3 MITF TYR
6 hypomelanosis of ito 10.3 MITF TYR
7 malignant spindle cell melanoma 10.3 MITF TYR
8 vitiligo-associated multiple autoimmune disease susceptibility 6 10.3 MITF TYR
9 tietz albinism-deafness syndrome 10.3 MITF TYR
10 dowling-degos disease 1 10.2 MITF TYR
11 hermansky-pudlak syndrome 3 10.2 MITF TYR
12 dowling-degos disease 10.2 KRT14 TYR
13 brooke-spiegler syndrome 10.2 KRT14 PTCH1
14 hair follicle neoplasm 10.2 CTNNB1 KRT14
15 waardenburg syndrome, type 2a 10.2 MITF TYR
16 albinism, oculocutaneous, type iv 10.2 MITF TYR
17 esophageal basaloid squamous cell carcinoma 10.2 CTNNB1 KRT14
18 waardenburg syndrome, type 1 10.2 MITF TYR
19 nodular medulloblastoma 10.2 CTNNB1 PTCH1
20 dyschromatosis symmetrica hereditaria 10.2 MITF TYR
21 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2 MITF TYR
22 birt-hogg-dube syndrome 10.2 CTNNB1 PTCH1
23 angiomyolipoma 10.2 MITF TYR
24 skin pilomatrix carcinoma 10.1 CLEC2A CTNNB1
25 brachydactyly, type b1 10.1 CTNNB1 PTCH1
26 ocular albinism 10.1 MITF TYR
27 piebald trait 10.1 MITF TYR
28 eyelid carcinoma 10.1
29 gallbladder melanoma 10.0 MITF MLANA
30 infratentorial cancer 10.0 CTNNB1 PTCH1
31 lentigo maligna melanoma 10.0 MITF MLANA
32 ameloblastoma 10.0 KRT14 PTCH1
33 large cell acanthoma 10.0 KRT14 MLANA
34 halo nevi 10.0 MLANA TYR
35 melanoacanthoma 10.0 MLANA TYR
36 diffuse meningeal melanocytosis 10.0 MLANA TYR
37 vulvar melanoma 10.0 MLANA TYR
38 malignant skin fibrous histiocytoma 9.9 MLANA TYR
39 malignant dermis tumor 9.9 MLANA TYR
40 craniopharyngioma 9.9 CTNNB1 KRT14
41 burn scar 9.9
42 nodular malignant melanoma 9.9
43 scrotum basal cell carcinoma 9.9
44 superficial spreading melanoma 9.9
45 pilomatrix carcinoma 9.9
46 central nervous system melanocytic neoplasm 9.9 MLANA TYR
47 infiltrative basal cell carcinoma 9.9 CLEC2A MLANA
48 skin melanoma 9.9 MITF TYR
49 balloon cell malignant melanoma 9.9 FOXO4 MLANA
50 skin sarcoma 9.9 CLEC2A FOXO4 MITF

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



Diseases related to Pigmented Basal Cell Carcinoma

Symptoms & Phenotypes for Pigmented Basal Cell Carcinoma

MGI Mouse Phenotypes related to Pigmented Basal Cell Carcinoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.93 CTNNB1 FOXO4 KRT14 MITF PTCH1 TYR
2 craniofacial MP:0005382 9.88 CTNNB1 KRT14 MITF PTCH1 TYR
3 immune system MP:0005387 9.88 CTNNB1 DNTT KRT14 MITF PTCH1 TYR
4 integument MP:0010771 9.85 CTNNB1 KRT14 MITF MLANA PTCH1 TYR
5 hearing/vestibular/ear MP:0005377 9.83 CTNNB1 KRT14 MITF PTCH1 TYR
6 neoplasm MP:0002006 9.72 CTNNB1 FOXO4 KRT14 PTCH1 TYR
7 normal MP:0002873 9.7 CTNNB1 DNTT FOXO4 MCRS1 MITF PTCH1
8 no phenotypic analysis MP:0003012 9.65 CTNNB1 MITF MLANA PTCH1 TYR
9 pigmentation MP:0001186 9.43 CTNNB1 KRT14 MITF MLANA PTCH1 TYR
10 vision/eye MP:0005391 9.02 CTNNB1 KRT14 MITF PTCH1 TYR

Drugs & Therapeutics for Pigmented Basal Cell Carcinoma

Search Clinical Trials , NIH Clinical Center for Pigmented Basal Cell Carcinoma

Genetic Tests for Pigmented Basal Cell Carcinoma

Anatomical Context for Pigmented Basal Cell Carcinoma

MalaCards organs/tissues related to Pigmented Basal Cell Carcinoma:

42
Skin, Bone, Eye, Bone Marrow

Publications for Pigmented Basal Cell Carcinoma

Articles related to Pigmented Basal Cell Carcinoma:

(show top 50) (show all 67)
# Title Authors Year
1
Evaluation of the appropriate surgical margin for pigmented basal cell carcinoma according to the risk factors for recurrence: a single-institute retrospective study in Japan. ( 29729096 )
2018
2
Microbiopsy Biomarker Profiling in a Superficial Melanoma Resembling a Pigmented Basal Cell Carcinoma. ( 28196220 )
2017
3
Methyl aminolevulinate photodynamic therapy combined with curettage debulking for pigmented basal cell carcinoma. ( 28500762 )
2017
4
Case of nodular melanoma on the upper eyelid dermoscopically mimicking pigmented basal cell carcinoma. ( 27649925 )
2017
5
Non-pigmented basal cell carcinoma occurring within a widespread vitiliginous lesion. ( 27882590 )
2017
6
Reflectance confocal microscopy is a useful non-invasive tool in the in vivo diagnosis of pigmented basal cell carcinoma in Asians. ( 26390992 )
2017
7
Pigmented basal cell carcinoma: A rare case report. ( 28244464 )
2016
8
Treatment of Pigmented Basal Cell Carcinoma with 3 mm Surgical Margin in Asians. ( 27652267 )
2016
9
Nevoid hyperkeratosis of the nipple mimicking a pigmented basal cell carcinoma. ( 28004028 )
2016
10
Pilomatrix Carcinoma Mimicking a Pigmented Basal Cell Carcinoma. ( 28031142 )
2016
11
Pigmented basal cell carcinoma mimicking a superficial spreading melanoma. ( 28076343 )
2016
12
Dermatoscopy-guided therapy of pigmented basal cell carcinoma with imiquimod. ( 28099598 )
2016
13
Pigmented basal cell carcinoma: increased melanin or increased melanocytes? ( 27612950 )
2016
14
Unusual Presentation of Pigmented Basal Cell Carcinoma of Face: Surgical Challenge. ( 27630973 )
2016
15
Trichilemmoma in continuity with pigmented basal cell carcinoma; with dermatoscopy and dermatopathology. ( 26114053 )
2015
16
Dermatoscopic features of pigmented and non-pigmented basal cell carcinoma. ( 25693214 )
2015
17
Narrow-margin excision is a safe, reliable treatment for well-defined, primary pigmented basal cell carcinoma: an analysis of 288 lesions in Japan. ( 25186070 )
2015
18
History of laser ablation in pigmented basal cell carcinoma conceals classic dermoscopic patterns. ( 25111344 )
2014
19
Efficacy of fluorescence diagnosis-guided Mohs micrographic surgery for pigmented vs non-pigmented basal cell carcinoma. ( 24448667 )
2014
20
Pigmented Basal cell carcinoma of nipple and areola in a male breast - a case report with review of literature. ( 24711752 )
2014
21
Pigmented basal cell carcinoma of the nipple: a case report and review of the literature. ( 24343213 )
2013
22
Pigmented Basal Cell Carcinoma in Marjolin's Ulcer. ( 24551702 )
2013
23
Pigmented Basal cell carcinoma: a clinical variant, report of two cases. ( 24551712 )
2013
24
Pigmented basal cell carcinoma: uncommon presentation in blue-eyed patients. ( 23739743 )
2013
25
A growing pigmented lesion in a child with a history of bone marrow transplant and irradiation. Pigmented basal cell carcinoma (BCC). ( 22911197 )
2012
26
Pigmented basal cell carcinoma: Cytological diagnosis and differential diagnoses. ( 23326037 )
2012
27
Clinical image: an unusual pigmented basal cell carcinoma arising from vulva. ( 21993706 )
2011
28
Pigmented Basal cell carcinoma of the nipple-areola complex in an elderly woman. ( 22148050 )
2011
29
Pigmented nodule below the eye. Pigmented basal cell carcinoma. ( 21121559 )
2010
30
Dermoscopic features of a collision tumour composed of a pigmented basal cell carcinoma and a melanoma. ( 20202050 )
2010
31
Correlation between the dermatoscopic and histopathological features of pigmented basal cell carcinoma. ( 20337825 )
2010
32
Pigmented basal cell carcinoma. ( 23133159 )
2009
33
skINsight lessons in reflectance confocal microscopy: rapid diagnosis of pigmented basal cell carcinoma. ( 19153366 )
2009
34
Pigmented basal cell carcinoma of the eyelid in Hispanics. ( 19668766 )
2008
35
Pigmented basal cell carcinoma of the scrotum: an unusual site. ( 19052423 )
2008
36
Fine needle aspiration biopsy in pigmented basal cell carcinoma. ( 18702375 )
2008
37
Pigmented basal cell carcinoma successfully treated with 5% Imiquimod cream. ( 19882014 )
2008
38
Pigmented basal cell carcinoma--comparing the diagnostic methods of SIAscopy and dermoscopy. ( 17533490 )
2007
39
Dendritic cells in pigmented basal cell carcinoma: a relevant finding by reflectance-mode confocal microscopy. ( 17638732 )
2007
40
Dermoscopic-pathologic correlation in an unusual case of pigmented basal cell carcinoma. ( 17199663 )
2006
41
Dermoscopic pattern of pigmented basal cell carcinoma, blue-white variant. ( 16681668 )
2006
42
Reflectance confocal microscopy of pigmented basal cell carcinoma. ( 16546585 )
2006
43
Unusual clinical and dermoscopic features in two cases of pigmented basal cell carcinoma. ( 16310078 )
2005
44
Polyglandular autoimmune syndrome associated with pigmented basal cell carcinoma. ( 16471475 )
2005
45
Asymptomatic nodule on the lower eyelid. Pigmented basal cell carcinoma of the eyelid. ( 15313822 )
2004
46
Pigmented basal cell carcinoma simulating melanoma in a burn scar. ( 12769409 )
2003
47
Dermoscopy of pigmented basal cell carcinoma. ( 12074864 )
2002
48
Interobserver agreement on dermoscopic features of pigmented basal cell carcinoma. ( 12135528 )
2002
49
Melanoma or pigmented basal cell carcinoma: a clinical-pathologic correlation with dermoscopy, in vivo confocal scanning laser microscopy, and routine histology. ( 12423549 )
2002
50
Sub-populations of melanocytes in pigmented basal cell carcinoma: a quantitative, ultrastructural investigation. ( 11168750 )
2001

Variations for Pigmented Basal Cell Carcinoma

Cosmic variations for Pigmented 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 0
2 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 0
3 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 0
4 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 0
5 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 0
6 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 0
7 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 0
8 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 0
9 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 0
10 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 0
11 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 0
12 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 0
13 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 0
14 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 0
15 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 0
16 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 0
17 COSM10988 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 0
18 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 0
19 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 0
20 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 0
21 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 0
22 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 0
23 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 0
24 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 0
25 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 0
26 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 0
27 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 0
28 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 0
29 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 0
30 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 0
31 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 0
32 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 0
33 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 0
34 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 0
35 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 0
36 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 0
37 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 0
38 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 0
39 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 0
40 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 0
41 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 0
42 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 0
43 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 0
44 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
45 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 17:7674220-7674220 0
46 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 0
47 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 17:7675993-7675993 0
48 COSM10867 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 17:7673823-7673823 0
49 COSM43714 TP53 skin,NS,carcinoma,basal cell carcinoma c.836G>A p.G279E 17:7673784-7673784 0
50 COSM44226 TP53 skin,NS,carcinoma,basal cell carcinoma c.380C>T p.S127F 17:7675232-7675232 0

Expression for Pigmented Basal Cell Carcinoma

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

Pathways for Pigmented Basal Cell Carcinoma

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

# Super pathways Score Top Affiliating Genes
1 10.3 CTNNB1 FOXO4

GO Terms for Pigmented Basal Cell Carcinoma

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

# Name GO ID Score Top Affiliating Genes
1 cell periphery GO:0071944 8.62 CTNNB1 KRT14

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.83 CTNNB1 FOXO4 MITF PTCH1
2 positive regulation of transcription, DNA-templated GO:0045893 9.73 CTNNB1 FOXO4 MITF PTCH1
3 regulation of cell proliferation GO:0042127 9.54 CTNNB1 MITF PTCH1
4 thymus development GO:0048538 9.51 CTNNB1 TYR
5 branching involved in ureteric bud morphogenesis GO:0001658 9.49 CTNNB1 PTCH1
6 dorsal/ventral pattern formation GO:0009953 9.48 CTNNB1 PTCH1
7 pigmentation GO:0043473 9.46 MITF TYR
8 osteoclast differentiation GO:0030316 9.4 CTNNB1 MITF
9 cell fate determination GO:0001709 9.26 CTNNB1 PTCH1
10 regulation of osteoclast differentiation GO:0045670 9.16 CTNNB1 MITF
11 renal system development GO:0072001 9.02 PTCH1
12 positive regulation of DNA-templated transcription, initiation GO:2000144 8.96 CTNNB1 MITF
13 canonical Wnt signaling pathway involved in negative regulation of apoptotic process GO:0044336 8.62 CTNNB1 MITF

Molecular functions related to Pigmented Basal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.32 CLEC2A CTNNB1 DNTT FOXO4 KRT14 MCRS1

Sources for Pigmented Basal Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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