MCID: BSL011
MIFTS: 37

Basal Cell Carcinoma, Multiple

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

Aliases & Classifications for Basal Cell Carcinoma, Multiple

MalaCards integrated aliases for Basal Cell Carcinoma, Multiple:

Name: Basal Cell Carcinoma, Multiple 53 29 55 73
Multiple Basal Cell Carcinoma 53

Classifications:



External Ids:

UMLS 73 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 nevus syndrome and basal cell carcinoma. An important gene associated with Basal Cell Carcinoma, Multiple is PTCH1 (Patched 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Pathways in cancer. The drugs Verteporfin and Photosensitizing Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are Increased viability and cardiovascular system

Related Diseases for Basal Cell Carcinoma, Multiple

Diseases in the Small Cell Carcinoma family:

Basal Cell Carcinoma 1 Basal Cell Carcinoma 2
Basal Cell Carcinoma 3 Basal Cell Carcinoma 4
Basal Cell Carcinoma 5 Basal Cell Carcinoma 6
Basal Cell Carcinoma 7 Cell Type Benign Neoplasm
Basal Cell Carcinoma Large Cell Carcinoma
Basal Cell Carcinoma, Multiple

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 basal cell nevus syndrome 31.7 PTCH1 PTCH2 SMO
2 basal cell carcinoma 29.1 CYP1A1 PTCH1 PTCH2 RASA1 SMO
3 bazex syndrome 11.6
4 basal cell carcinoma 1 11.6
5 multiple familial trichoepithelioma 11.2
6 tinea capitis 10.1
7 nevus, epidermal 10.0
8 xeroderma pigmentosum, variant type 10.0
9 focal dermal hypoplasia 10.0
10 hypotrichosis 10.0
11 phacomatosis pigmentokeratotica 10.0
12 phakomatosis pigmentokeratotica 10.0
13 albinism, oculocutaneous, type v 9.9 PTCH2 SLC45A2
14 albinism, oculocutaneous, type vii 9.9 PTCH2 SLC45A2
15 keratocystic odontogenic tumor 9.8 PTCH1 SMO
16 myotonic dystrophy 1 9.8
17 pheochromocytoma 9.8
18 cartilage-hair hypoplasia 9.8
19 brooke-spiegler syndrome 9.8
20 nevus comedonicus 9.8
21 acute lymphocytic leukemia 9.8
22 burn scar 9.8
23 lymphedema 9.8
24 oculocutaneous albinism 9.8
25 lymphocytic leukemia 9.8
26 rickets 9.8
27 hypohidrosis 9.8
28 erysipelas 9.8
29 lymphadenitis 9.8
30 keratoacanthoma 9.8
31 merkel cell carcinoma 9.8
32 superficial basal cell carcinoma 9.8
33 vulva basal cell carcinoma 9.8
34 human immunodeficiency virus infectious disease 9.8
35 learning disability 9.8
36 albinism 9.8
37 myotonic dystrophy 9.8
38 inflammatory linear verrucous epidermal nevus 9.8
39 myotonia atrophica 9.8
40 9q22.3 microdeletion 9.8
41 ameloblastoma 9.8 PTCH1 SMO
42 medulloblastoma 9.5 PTCH1 PTCH2 SMO

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:

26
# 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:

46
# 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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verteporfin Approved, Investigational Phase 3 129497-78-5
2 Photosensitizing Agents Phase 3,Phase 2
3 Dermatologic Agents Phase 3,Phase 2
4
Aminolevulinic acid Approved Phase 2,Phase 1 106-60-5 137
5 Pharmaceutical Solutions Phase 2
6
Vitamin D3 Approved, Nutraceutical Phase 1,Not Applicable 67-97-0 5280795 6221
7
Ergocalciferol Approved, Nutraceutical Phase 1,Not Applicable 50-14-6 5280793
8
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1,Not Applicable 1406-16-2
9 Vitamin D2 Phase 1,Not Applicable
10 Micronutrients Phase 1,Not Applicable
11 Bone Density Conservation Agents Phase 1,Not Applicable
12 Calciferol Phase 1,Not Applicable
13 Vitamins Phase 1,Not Applicable
14 Ergocalciferols Phase 1,Not Applicable
15 Trace Elements Phase 1,Not Applicable
16
Acitretin Approved 55079-83-9 5284513 6437841
17 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 Completed NCT02639117 Phase 1 Vismodegib
5 Vitamin D and Photodynamic Therapy for Treatment of BCC in BCNS Recruiting NCT03483441 Phase 1 PDT
6 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
7 Vitamin D as a Nutritional Neoadjuvant During Photodynamic Therapy of Basal Cell Carcinoma Recruiting NCT03467789 Not Applicable

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 29 PTCH1 PTCH2 RASA1 SMO

Anatomical Context for Basal Cell Carcinoma, Multiple

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

41
Skin, Bone

Publications for Basal Cell Carcinoma, Multiple

Articles related to Basal Cell Carcinoma, Multiple:

(show all 21)
# Title Authors Year
1
Multiple Basal Cell Carcinoma Arising in a Verrucous Epidermal Naevus: Clinical, Histological and Therapeutic Observations. ( 28759100 )
2018
2
Correlates of multiple basal cell carcinoma in a retrospective cohort study: Sex, histologic subtypes, and anatomic distribution. ( 28392289 )
2017
3
Familial Multiple Basal Cell Carcinoma (Gorlin's Syndrome): A Case Report of a Father and Son. ( 24249904 )
2013
4
Simultaneous treatment of multiple basal cell carcinoma lesions. ( 19029050 )
2008
5
Long-term toxic effects of radiations: sarcomatoid carcinoma and multiple basal cell carcinoma of the limbs in chronic radiodermatitis. ( 15803869 )
2005
6
Onset of multiple basal cell carcinoma 60 years after X-ray treatment for tinea capitis. ( 15096161 )
2004
7
Merkel cell carcinoma and multiple basal cell carcinoma in an African albino woman with HIV infection. ( 15544700 )
2004
8
Nonsyndromic type of hereditary multiple basal cell carcinoma. ( 11078568 )
2000
9
Multiple basal cell carcinoma. A clinical evaluation of risk factors. ( 9534891 )
1998
10
Multiple basal cell carcinoma developing two years after 60Co irradiation. ( 9649688 )
1998
11
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
12
Three cases of multiple basal cell carcinoma arising in port-wine stains previously treated with thorium X. ( 8977700 )
1996
13
Multiple basal cell carcinoma associated with keratoacanthoma. ( 1292252 )
1992
14
Multiple basal cell carcinoma in tropical Australia. ( 1459761 )
1992
15
Benzo(a)pyrene metabolism, DNA-binding and UV-induced repair of DNA damage in cultured skin fibroblasts from a patient with unilateral multiple basal cell carcinoma. ( 2923792 )
1989
16
Multiple basal-cell carcinoma of the vulva. ( 6747076 )
1984
17
Decreased lymphocyte blastogenic responses in patients with multiple basal cell carcinoma. ( 7240477 )
1981
18
Multiple basal cell carcinoma 58 years after X-ray therapy. ( 507882 )
1979
19
Multiple basal cell carcinoma and internal malignant tumors. ( 1130803 )
1975
20
Multiple basal cell carcinoma in a 24-year-old man. ( 5641342 )
1968
21
Unusual case of multiple basal cell carcinoma with metastasis to the parotid lymph gland. ( 5673242 )
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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 PTCH1 PTCH2 SMO
2 12.3 PTCH1 PTCH2 SMO
3
Show member pathways
11.9 PTCH1 PTCH2 SMO
4 11.68 PTCH1 RASA1 SMO
5
Show member pathways
11.51 PTCH1 PTCH2 SMO
6
Show member pathways
11.24 PTCH1 PTCH2 SMO
7 10.96 PTCH1 SMO
8
Show member pathways
10.28 PTCH1 PTCH2 SMO

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 19)
# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.58 CYP1A1 PTCH1
2 epidermis development GO:0008544 9.58 PTCH1 PTCH2
3 pattern specification process GO:0007389 9.57 PTCH1 SMO
4 vasculogenesis GO:0001570 9.56 RASA1 SMO
5 heart morphogenesis GO:0003007 9.55 PTCH1 SMO
6 dorsal/ventral pattern formation GO:0009953 9.54 PTCH1 SMO
7 digestive tract development GO:0048565 9.52 CYP1A1 SMO
8 embryonic organ development GO:0048568 9.51 PTCH1 SMO
9 negative regulation of smoothened signaling pathway GO:0045879 9.49 PTCH1 PTCH2
10 renal system development GO:0072001 9.48 PTCH1 SMO
11 cell fate determination GO:0001709 9.46 PTCH1 PTCH2
12 cellular response to cholesterol GO:0071397 9.43 PTCH1 SMO
13 somite development GO:0061053 9.4 PTCH1 SMO
14 dorsal/ventral neural tube patterning GO:0021904 9.37 PTCH1 SMO
15 mammary gland epithelial cell differentiation GO:0060644 9.32 PTCH1 SMO
16 commissural neuron axon guidance GO:0071679 9.26 PTCH1 SMO
17 positive regulation of epidermal cell differentiation GO:0045606 9.16 PTCH1 PTCH2
18 smoothened signaling pathway GO:0007224 9.13 PTCH1 PTCH2 SMO
19 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 hedgehog receptor activity GO:0008158 8.96 PTCH1 PTCH2
4 smoothened binding GO:0005119 8.62 PTCH1 PTCH2

Sources for Basal Cell Carcinoma, Multiple

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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