MCID: BSL011
MIFTS: 26

Basal Cell Carcinoma, Multiple

Categories: Cancer diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Basal Cell Carcinoma, Multiple

MalaCards integrated aliases for Basal Cell Carcinoma, Multiple:

Name: Basal Cell Carcinoma, Multiple 19 53 5 71
Multiple Basal Cell Carcinoma 19

Classifications:



External Ids:

UMLS 71 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 1. An important gene associated with Basal Cell Carcinoma, Multiple is CCNH (Cyclin H). The drugs Verteporfin and Photosensitizing Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and lung.

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 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 26)
# Related Disease Score Top Affiliating Genes
1 basal cell nevus syndrome 31.3 PTCH1 LOC100507346
2 basal cell carcinoma 1 30.9 RASA1 PTCH1 LOC100507346 CCNH
3 basal cell carcinoma 29.4 RASA1 PTCH1 CYP1A1
4 angioosteohypertrophic syndrome 10.0 RASA1 CCNH
5 telangiectasia, hereditary hemorrhagic, type 1 10.0 RASA1 CCNH
6 capillary malformation-arteriovenous malformation 1 10.0 RASA1 CCNH
7 muir-torre syndrome 10.0
8 nevus, epidermal 10.0
9 basal cell carcinoma 2 10.0
10 keratoacanthoma 10.0
11 merkel cell carcinoma 10.0
12 vulva basal cell carcinoma 10.0
13 tinea capitis 10.0
14 dermatophytosis 10.0
15 hemangioma, capillary infantile 9.9 RASA1 CCNH
16 klippel-trenaunay-weber syndrome 9.9 RASA1 CCNH
17 hereditary hemorrhagic telangiectasia 9.9 RASA1 CCNH
18 overgrowth syndrome 9.7 PTCH1 LOC100507346
19 holoprosencephaly 7 9.7 PTCH1 LOC100507346
20 precocious puberty 9.7 PTCH1 LOC100507346
21 congenital hydrocephalus 9.7 PTCH1 LOC100507346
22 polydactyly, postaxial, type a1 9.7 PTCH1 LOC100507346
23 colobomatous microphthalmia 9.7 PTCH1 LOC100507346
24 lung squamous cell carcinoma 9.6 RASA1 CYP1A1
25 inherited cancer-predisposing syndrome 9.6 PTCH1 LOC100507346
26 bap1 tumor predisposition syndrome 9.5 PTCH1 LOC100507346

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

Drugs & Therapeutics for Basal Cell Carcinoma, Multiple

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verteporfin Approved, Investigational Phase 3 129497-78-5 5362420
2 Photosensitizing Agents Phase 3
3 Dermatologic Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Placebo-Controlled, Masked, Multicenter Phase III Study Of Photodynamic Therapy With Verteporfin For Injection (VFI) For The Treatment Of Multiple Basal Cell Carcinoma Terminated NCT00049959 Phase 3 verteporfin PDT
2 Registration of Oral Hedgehog Inhibitors Vismodegib and Sonidegib in the Treatment of Advanced and Multiple Basal Cell Carcinoma in the Netherlands: a Prospective Registration Study. Recruiting NCT05463757 Vismodegib;Sonidegib

Search NIH Clinical Center for Basal Cell Carcinoma, Multiple

Genetic Tests for Basal Cell Carcinoma, Multiple

Anatomical Context for Basal Cell Carcinoma, Multiple

Organs/tissues related to Basal Cell Carcinoma, Multiple:

MalaCards : Skin, Lung

Publications for Basal Cell Carcinoma, Multiple

Articles related to Basal Cell Carcinoma, Multiple:

(show top 50) (show all 74)
# Title Authors PMID Year
1
[Skeletal and dermatological manifestations of the nevoid Basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years]. 53 62
17492539 2007
2
Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. 53 62
15712338 2005
3
A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma. 53 62
12604725 2003
4
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. 53 62
9077484 1997
5
A case of nevoid basal cell carcinoma syndrome dominated by facial basal cell carcinoma. 62
35545332 2022
6
Heterogeneous Skin Phantoms for Experimental Validation of Microwave-Based Diagnostic Tools. 62
35271102 2022
7
Case report: B7-H3 CAR-T therapy partially controls tumor growth in a basal cell carcinoma patient. 62
36059640 2022
8
Perianal Basal Cell Carcinoma: 35-Year Experience. 62
35714341 2021
9
Eight years of experience with vismodegib for advanced and multiple basal cell carcinoma patients in the Netherlands: a retrospective cohort study. 62
33462360 2021
10
5-aminolevulinic acid photodynamic therapy and excision surgery for nevoid basal cell carcinoma syndrome with multiple basal cell carcinomas and PTCH1 mutation. 62
32835883 2020
11
Studying the multiple faces of nevoid basal-cell carcinoma syndrome: A case series. 62
33456241 2020
12
Submental and Anterior Neck Originated Full-Thickness Skin Grafts for Periocular Procedures. 62
31743277 2020
13
A clinical review of reconstructive techniques for patients with multiple skin cancers on the face. 62
30282429 2018
14
Multiple Basal Cell Carcinoma Arising in a Verrucous Epidermal Naevus: Clinical, Histological and Therapeutic Observations. 62
28759100 2018
15
Correlates of multiple basal cell carcinoma in a retrospective cohort study: Sex, histologic subtypes, and anatomic distribution. 62
28392289 2017
16
Confocal and dermoscopic features of basal cell carcinoma in Gorlin-Goltz syndrome: A case report. 62
26768321 2017
17
The clinicopathological spectrum of trichoepitheliomas: a retrospective descriptive study. 62
26220252 2016
18
Treatment of multiple unresectable basal cell carcinomas from Gorlin-Goltz syndrome: a case report. 62
25750342 2015
19
Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation. 62
25117323 2014
20
Metastatic Basal cell carcinoma accompanying gorlin syndrome. 62
25506011 2014
21
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci. 62
24124115 2013
22
Familial Multiple Basal Cell Carcinoma (Gorlin's Syndrome): A Case Report of a Father and Son. 62
24249904 2013
23
Treatment of Gorlin syndrome (nevoid basal cell carcinoma syndrome) with methylaminolevulinate photodynamic therapy in seven patients, including two children: interest of tumescent anesthesia for pain control in children. 62
22500823 2013
24
Multiple metastatic basal cell carcinoma with concurrent metastatic pleomorphic sarcoma in chronic lymphedema area--case report. 62
23197211 2012
25
Oral diffuse B-cell non-Hodgkin's lymphoma associated to Gorlin-Goltz syndrome: a case report with one year follow-up. 62
21623100 2011
26
Cutaneous cancers in an interventional cardiologist: a cautionary tale. 62
21114530 2011
27
Porokeratosis of Mibelli: Successful treatment with 5 percent topical imiquimod and topical 5 percent 5-fluorouracil. 62
21199636 2010
28
Risk factors for single and multiple basal cell carcinomas. 62
20713815 2010
29
Simultaneous treatment of multiple basal cell carcinoma lesions. 62
19029050 2008
30
Multiple hypersonographic spots in basal cell carcinoma. 62
17903154 2007
31
Optimizing meso-tetra-hydroxyphenyl-chlorin-mediated photodynamic therapy for basal cell carcinoma. 62
16984216 2006
32
Impaired removal of 8-hydroxydeoxyguanosine induced by UVB radiation in naevoid basal cell carcinoma syndrome cells. 53
16280022 2005
33
Long-term toxic effects of radiations: sarcomatoid carcinoma and multiple basal cell carcinoma of the limbs in chronic radiodermatitis. 62
15803869 2005
34
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. 53
15690381 2005
35
Merkel cell carcinoma and multiple basal cell carcinoma in an African albino woman with HIV infection. 62
15544700 2004
36
Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. 53
15545745 2004
37
Onset of multiple basal cell carcinoma 60 years after X-ray treatment for tinea capitis. 62
15096161 2004
38
Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophy. 62
14726854 2004
39
Effects of chlorin-mediated photodynamic therapy combined with fluoropyrimidines in vitro and in a patient. 62
12647016 2003
40
Novel mutations in the PATCHED gene in basal cell nevus syndrome. 53
12175781 2002
41
Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome. 53
11896785 2002
42
[Experience with glyciphonic ointment therapy for primary multiple basal cell carcinoma of the skin]. 62
12530271 2002
43
[Gorlin-Goltz syndrome]. 53
11744885 2001
44
Two male patients with nevoid basal cell carcinoma syndrome from Turkey. 62
11765170 2001
45
PTCH mutations in squamous cell carcinoma of the skin. 62
11286632 2001
46
A novel polymorphism in the PTC gene allows easy identification of allelic loss in basal cell nevus syndrome lesions. 53
11277394 2001
47
Nonsyndromic type of hereditary multiple basal cell carcinoma. 62
11078568 2000
48
Multiple basal cell carcinomas and malignant melanoma following radiotherapy for ankylosing spondylitis. 62
11012589 2000
49
[Clinico-epidemiologic characteristics of superficial multiple basal cell carcinoma at the Dermatovenereology Clinic in Novi Sad 1986-1996]. 62
10352507 1999
50
Multiple basal cell carcinoma developing two years after 60Co irradiation. 62
9649688 1998

Variations for Basal Cell Carcinoma, Multiple

ClinVar genetic disease variations for Basal Cell Carcinoma, Multiple:

5 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RASA1, CCNH NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) SNV Pathogenic
464870 rs1554044823 GRCh37: 5:86627281-86627281
GRCh38: 5:87331464-87331464
2 RASA1, CCNH NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) SNV Pathogenic
213660 rs863223718 GRCh37: 5:86672329-86672329
GRCh38: 5:87376512-87376512
3 PTCH1 NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter) SNV Pathogenic
576491 rs1564055259 GRCh37: 9:98242679-98242679
GRCh38: 9:95480397-95480397
4 PTCH1, LOC100507346 NM_000264.5(PTCH1):c.2380C>T (p.Gln794Ter) SNV Pathogenic
931311 rs1840094606 GRCh37: 9:98229578-98229578
GRCh38: 9:95467296-95467296
5 RASA1, CCNH NM_002890.3(RASA1):c.2925+1G>A SNV Likely Pathogenic
931156 rs1762099168 GRCh37: 5:86682721-86682721
GRCh38: 5:87386904-87386904
6 PTCH1 NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys) SNV Uncertain Significance
823625 rs758520331 GRCh37: 9:98215872-98215872
GRCh38: 9:95453590-95453590
7 PTCH1 NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu) SNV Uncertain Significance
931606 rs1368334005 GRCh37: 9:98209360-98209360
GRCh38: 9:95447078-95447078
8 PTCH1 NM_000264.5(PTCH1):c.1067+5G>C SNV Uncertain Significance
237448 rs372657547 GRCh37: 9:98242246-98242246
GRCh38: 9:95479964-95479964
9 PTCH2 NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu) SNV Uncertain Significance
453938 rs539161089 GRCh37: 1:45288751-45288751
GRCh38: 1:44823079-44823079
10 PTCH2 NM_003738.5(PTCH2):c.565C>G (p.Leu189Val) SNV Uncertain Significance
524558 rs747885797 GRCh37: 1:45297430-45297430
GRCh38: 1:44831758-44831758
11 PTCH2 NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys) SNV Uncertain Significance
570977 rs768246990 GRCh37: 1:45307675-45307675
GRCh38: 1:44842003-44842003
12 PTCH2 NM_003738.5(PTCH2):c.19C>G (p.Leu7Val) SNV Uncertain Significance
453931 rs1030456781 GRCh37: 1:45308586-45308586
GRCh38: 1:44842914-44842914
13 PTCH1 NM_000264.5(PTCH1):c.68C>A (p.Ala23Asp) SNV Uncertain Significance
930926 rs761204245 GRCh37: 9:98270576-98270576
GRCh38: 9:95508294-95508294
14 PTCH2 NM_003738.5(PTCH2):c.3185T>G (p.Val1062Gly) SNV Uncertain Significance
931578 rs1652996959 GRCh37: 1:45288987-45288987
GRCh38: 1:44823315-44823315
15 PTCH2 NM_003738.5(PTCH2):c.2716G>C (p.Glu906Gln) SNV Uncertain Significance
952970 rs751579508 GRCh37: 1:45292420-45292420
GRCh38: 1:44826748-44826748
16 PTCH1 NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp) SNV Uncertain Significance
188148 rs786204103 GRCh37: 9:98209487-98209487
GRCh38: 9:95447205-95447205
17 PTCH1 NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln) SNV Uncertain Significance
577136 rs978722722 GRCh37: 9:98209489-98209489
GRCh38: 9:95447207-95447207
18 PTCH1 NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser) SNV Uncertain Significance
220391 rs371943557 GRCh37: 9:98209495-98209495
GRCh38: 9:95447213-95447213
19 PTCH1 NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys) SNV Uncertain Significance
409167 rs781539921 GRCh37: 9:98209514-98209514
GRCh38: 9:95447232-95447232
20 PTCH1 NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) SNV Uncertain Significance
132753 rs574880967 GRCh37: 9:98209619-98209619
GRCh38: 9:95447337-95447337
21 PTCH1 NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) SNV Uncertain Significance
524547 rs779365332 GRCh37: 9:98209630-98209630
GRCh38: 9:95447348-95447348
22 PTCH1 NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg) SNV Uncertain Significance
409208 rs767792734 GRCh37: 9:98211421-98211421
GRCh38: 9:95449139-95449139
23 PTCH1 NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His) SNV Uncertain Significance
486183 rs762040036 GRCh37: 9:98211580-98211580
GRCh38: 9:95449298-95449298
24 PTCH1 NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser) SNV Uncertain Significance
220717 rs570091335 GRCh37: 9:98224170-98224170
GRCh38: 9:95461888-95461888
25 PTCH1 NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) SNV Uncertain Significance
216378 rs750373573 GRCh37: 9:98224206-98224206
GRCh38: 9:95461924-95461924
26 PTCH1, LOC100507346 NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) SNV Uncertain Significance
188150 rs754623561 GRCh37: 9:98229518-98229518
GRCh38: 9:95467236-95467236
27 PTCH1, LOC100507346 NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe) SNV Uncertain Significance
524507 rs544963328 GRCh37: 9:98229671-98229671
GRCh38: 9:95467389-95467389
28 PTCH1, LOC100507346 NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) SNV Uncertain Significance
237462 rs753002023 GRCh37: 9:98231294-98231294
GRCh38: 9:95469012-95469012
29 PTCH1 NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys) SNV Uncertain Significance
409137 rs772903899 GRCh37: 9:98241359-98241359
GRCh38: 9:95479077-95479077
30 PTCH1 NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe) SNV Uncertain Significance
578248 rs1380199153 GRCh37: 9:98242369-98242369
GRCh38: 9:95480087-95480087
31 PTCH1 NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn) SNV Uncertain Significance
524544 rs767601899 GRCh37: 9:98242716-98242716
GRCh38: 9:95480434-95480434
32 PTCH1 NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys) SNV Uncertain Significance
486174 rs139535966 GRCh37: 9:98248139-98248139
GRCh38: 9:95485857-95485857
33 PTCH1 NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr) SNV Uncertain Significance
409215 rs150069331 GRCh37: 9:98270463-98270463
GRCh38: 9:95508181-95508181
34 PTCH1 NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) SNV Uncertain Significance
188208 rs779791579 GRCh37: 9:98270607-98270607
GRCh38: 9:95508325-95508325
35 PTCH1 NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg) SNV Uncertain Significance
135105 rs587778631 GRCh37: 9:98209376-98209376
GRCh38: 9:95447094-95447094
36 PTCH1 NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr) SNV Uncertain Significance
577111 rs111481152 GRCh37: 9:98209400-98209400
GRCh38: 9:95447118-95447118
37 PTCH1 NM_000264.5(PTCH1):c.37C>T (p.Arg13Cys) SNV Uncertain Significance
930369 rs779791579 GRCh37: 9:98270607-98270607
GRCh38: 9:95508325-95508325
38 PTCH1 NM_001083603.3(PTCH1):c.2T>C (p.Met1Thr) SNV Uncertain Significance
930744 rs1039069537 GRCh37: 9:98279101-98279101
GRCh38: 9:95516819-95516819

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

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

# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 8.62 PTCH1 CYP1A1

Sources for Basal Cell Carcinoma, Multiple

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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