MCID: BSL011
MIFTS: 34

Basal Cell Carcinoma, Multiple

Categories: Rare diseases, Cancer diseases, Skin diseases, Respiratory diseases, Genetic diseases

Aliases & Classifications for Basal Cell Carcinoma, Multiple

MalaCards integrated aliases for Basal Cell Carcinoma, Multiple:

Name: Basal Cell Carcinoma, Multiple 49 28 51 69
Multiple Basal Cell Carcinoma 49

Classifications:



External Ids:

UMLS 69 C1854245

Summaries for Basal Cell Carcinoma, Multiple

MalaCards based summary : Basal Cell Carcinoma, Multiple, also known as multiple basal cell carcinoma, is related to basal cell carcinoma 1 and basal cell carcinoma. An important gene associated with Basal Cell Carcinoma, Multiple is PTCH1 (Patched 1), and among its related pathways/superpathways are Pathways in cancer and Presynaptic function of Kainate receptors. The drugs Verteporfin and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are Increased viability and cardiovascular system

Related Diseases for Basal Cell Carcinoma, Multiple

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



Diseases related to Basal Cell Carcinoma, Multiple

Symptoms & Phenotypes for Basal Cell Carcinoma, Multiple

GenomeRNAi Phenotypes related to Basal Cell Carcinoma, Multiple according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 9.1 CYP1A1 PTCH1 PTCH2 RASA1 SLC45A2 SMO

MGI Mouse Phenotypes related to Basal Cell Carcinoma, Multiple:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 CYP1A1 PTCH1 PTCH2 RASA1 SMO
2 digestive/alimentary MP:0005381 9.26 PTCH1 PTCH2 RASA1 SMO
3 muscle MP:0005369 8.92 PTCH1 PTCH2 RASA1 SMO

Drugs & Therapeutics for Basal Cell Carcinoma, Multiple

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verteporfin Approved, Investigational Phase 3 129497-78-5
2 Dermatologic Agents Phase 3,Phase 2
3 Photosensitizing Agents Phase 3,Phase 2
4
Aminolevulinic acid Approved Phase 2 106-60-5 137
5 Pharmaceutical Solutions Phase 2
6
Acitretin Approved 55079-83-9 5284513 6437841
7 Keratolytic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin. Terminated NCT00049959 Phase 3 verteporfin PDT
2 A Study of Two Vismodegib Regimens in Participants With Multiple Basal Cell Carcinomas Completed NCT01815840 Phase 2 Vismodegib;Placebo
3 Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2 Vismodegib;Aminolevulinic acid %20 topical solution
4 Photodynamic Therapy and Vismodegib for Multiple Basal Cell Carcinomas Active, not recruiting NCT02639117 Phase 1 Vismodegib
5 The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases Completed NCT00005660

Search NIH Clinical Center for Basal Cell Carcinoma, Multiple

Genetic Tests for Basal Cell Carcinoma, Multiple

Genetic tests related to Basal Cell Carcinoma, Multiple:

# Genetic test Affiliating Genes
1 Basal Cell Carcinoma, Multiple 28 PTCH1 PTCH2 RASA1 SMO

Anatomical Context for Basal Cell Carcinoma, Multiple

MalaCards organs/tissues related to Basal Cell Carcinoma, Multiple:

38
Skin

Publications for Basal Cell Carcinoma, Multiple

Articles related to Basal Cell Carcinoma, Multiple:

(show all 30)
# Title Authors Year
1
9q22.3 Microdeletion Syndrome with Multiple Basal Cell Carcinomas Treated with Vismodegib: Three Key Messages in One Patient. ( 29057423 )
2018
2
Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism. ( 28405556 )
2017
3
A Case of Phacomatosis Pigmentokeratotica Associated With Multiple Basal Cell Carcinomas. ( 28937433 )
2017
4
A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. ( 25976026 )
2015
5
Germline BAP1 mutations predispose also to multiple basal cell carcinomas. ( 25080371 )
2015
6
Biallelic disruption of the PTCH1 gene in multiple basal cell carcinomas in Japanese patients with nevoid basal cell carcinoma syndrome. ( 24942795 )
2014
7
Man with macrocephaly, learning disability and multiple basal cell carcinomas. ( 24939783 )
2014
8
Familial Multiple Basal Cell Carcinoma (Gorlin's Syndrome): A Case Report of a Father and Son. ( 24249904 )
2013
9
Relapsing meningiomas and multiple basal cell carcinomas after x-ray epilation for tinea capitis. ( 22715842 )
2012
10
Vitamin D-binding protein polymorphisms are not associated with development of (multiple) basal cell carcinomas. ( 20812960 )
2010
11
Multiple basal cell carcinomas arising on a thermal-burn scar. Successful treatment with photodynamic therapy. ( 18624869 )
2009
12
Multiple basal cell carcinomas on the lateral neck linearly arranged along the lines of Blaschko occurring 50 years after X-ray radiation therapy for lymphadenitis coli tuberculosa. ( 19017051 )
2008
13
Multiple basal cell carcinomas in xeroderma pigmentosum treated with imiquimod 5% cream. ( 18789101 )
2008
14
Broad area photodynamic therapy for treatment of multiple basal cell carcinomas in a patient with nevoid basal cell carcinoma syndrome. ( 16485873 )
2006
15
Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1. ( 16426388 )
2006
16
Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. ( 16792789 )
2006
17
Cartilage hair hypoplasia and multiple basal cell carcinomas. ( 16428006 )
2006
18
Nevus comedonicus syndrome: a case associated with multiple basal cell carcinomas and a rudimentary toe. ( 15941441 )
2005
19
delta-Aminolevulinic acid and blue light photodynamic therapy for treatment of multiple basal cell carcinomas in two patients with nevoid basal cell carcinoma syndrome. ( 15209801 )
2004
20
Onset of multiple basal cell carcinoma 60 years after X-ray treatment for tinea capitis. ( 15096161 )
2004
21
Multiple basal cell carcinomas developed after radiation therapy for tinea capitis: a case report. ( 11442620 )
2001
22
Multiple basal cell carcinomas associated with hairy cell leukaemia. ( 10215787 )
1999
23
Multiple follicular hamartomas with sweat gland and sebaceous differentiation, vermiculate atrophoderma, milia, hypotrichosis, and late development of multiple basal cell carcinomas. ( 9810915 )
1998
24
Truncal tumor site is associated with high risk of multiple basal cell carcinoma and is influenced by glutathione S-transferase, GSTT1, and cytochrome P450, CYP1A1 genotypes, and their interaction. ( 9077484 )
1997
25
Multiple basal cell carcinomas of the leg after recurrent erysipelas and chronic lymphedema. ( 7929934 )
1994
26
Multiple basal cell carcinoma associated with keratoacanthoma. ( 1292252 )
1992
27
Multiple neck papules in a child with acute lymphocytic leukemia. Multiple basal cell carcinomas (BCCs). ( 2404459 )
1990
28
The Bazex syndrome: follicular atrophoderma with multiple basal cell carcinomas, hypotrichosis and hypohidrosis. ( 7273474 )
1981
29
Nevoid basal cell carcinoma syndrome. Multiple basal cell carcinomas of the palms after radiation therapy. ( 7425663 )
1980
30
Multiple basal cell carcinomas (nevoid basal cell carcinoma syndrome). ( 5641343 )
1968

Variations for Basal Cell Carcinoma, Multiple

Expression for Basal Cell Carcinoma, Multiple

Search GEO for disease gene expression data for Basal Cell Carcinoma, Multiple.

Pathways for Basal Cell Carcinoma, Multiple

GO Terms for Basal Cell Carcinoma, Multiple

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

# Name GO ID Score Top Affiliating Genes
1 caveola GO:0005901 9.16 PTCH1 SMO
2 endocytic vesicle membrane GO:0030666 8.96 PTCH1 SMO
3 ciliary membrane GO:0060170 8.62 PTCH1 SMO

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.58 CYP1A1 PTCH1
2 epidermis development GO:0008544 9.57 PTCH1 PTCH2
3 smoothened signaling pathway GO:0007224 9.56 PTCH1 SMO
4 vasculogenesis GO:0001570 9.55 RASA1 SMO
5 pattern specification process GO:0007389 9.54 PTCH1 SMO
6 heart morphogenesis GO:0003007 9.52 PTCH1 SMO
7 dorsal/ventral pattern formation GO:0009953 9.51 PTCH1 SMO
8 embryonic organ development GO:0048568 9.49 PTCH1 SMO
9 digestive tract development GO:0048565 9.48 CYP1A1 SMO
10 renal system development GO:0072001 9.46 PTCH1 SMO
11 negative regulation of smoothened signaling pathway GO:0045879 9.43 PTCH1 PTCH2
12 cell fate determination GO:0001709 9.4 PTCH1 PTCH2
13 somite development GO:0061053 9.37 PTCH1 SMO
14 mammary gland epithelial cell differentiation GO:0060644 9.32 PTCH1 SMO
15 dorsal/ventral neural tube patterning GO:0021904 9.26 PTCH1 SMO
16 cellular response to cholesterol GO:0071397 9.16 PTCH1 SMO
17 positive regulation of epidermal cell differentiation GO:0045606 8.96 PTCH1 PTCH2
18 epidermal cell fate specification GO:0009957 8.62 PTCH1 PTCH2

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

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 9.26 PTCH1 SMO
2 hedgehog family protein binding GO:0097108 9.16 PTCH1 PTCH2
3 smoothened binding GO:0005119 8.96 PTCH1 PTCH2
4 hedgehog receptor activity GO:0008158 8.62 PTCH1 PTCH2

Sources for Basal Cell Carcinoma, Multiple

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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