BCNS
MCID: NVD001

Nevoid Basal Cell Carcinoma Syndrome malady

Summaries for Nevoid Basal Cell Carcinoma Syndrome

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30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 15GeneReviews, 22MalaCards
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NIH Rare Diseases: Nevoid basal cell carcinoma syndrome is a type of genetic tumor syndrome. Signs and symptoms include an increased risk for certain types of noncancerous and cancerous tumors, skin pits in the palms of the hands and soles of the feet, large head size, and bone abnormalities involving the spine, ribs, or skull. Nevoid basal cell carcinoma syndrome is caused by a mutation in the gene PTCH1.  It is inherited in an autosomal dominant fashion.30

MalaCards: Nevoid Basal Cell Carcinoma Syndrome, also known as basal cell nevus syndrome, is related to nevus and basal cell carcinoma. An important gene associated with Nevoid Basal Cell Carcinoma Syndrome is PTCH2 (patched 2), and among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds sant-2 and 20(s)-hydroxycholesterol have been mentioned in the context of this disorder. Affiliated tissues include lung, breast and skin, and related mouse phenotypes are respiratory system and craniofacial.

Genetics Home Reference: Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors.17

Wikipedia: Nevoid Basal Cell Carcinoma Syndrome (NBCCS), also known as basal cell nevus syndrome, multiple basal...44 more...

OMIM: 109400

GeneReviews summary for bcns

Aliases & Descriptions for Nevoid Basal Cell Carcinoma Syndrome

Sources:
6Disease Ontology, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 32Novoseek , 7diseasecard, 33OMIM, 43UMLS, 27NCIt, 24MeSH, 40SNOMED-CT
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Aliases & Descriptions:

nevoid basal cell carcinoma syndrome 6 15 30 16 17 8 32
basal cell nevus syndrome 6 7 15 30 17 33 43
gorlin syndrome 15 30 16 17
nbccs 15 16 17
bcns 15 17
multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies 30
naevoid basal cell carcinoma syndrome 6
nevoid basal cell cancer syndrome 16
basal cell nevus syndrome (bcns) 16
gorlin syndrome (disorder) 6
benign melanocytic nevus 43
gorlin-goltz syndrome 30
fifth phacomatosis 30

External Ids:

NCIt27 C2892

Related Diseases for Nevoid Basal Cell Carcinoma Syndrome

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13GeneCards, 14GeneDecks
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Diseases related to nevoid basal cell carcinoma syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 152)
idRelated DiseaseScoreTop Affiliating Genes
1nevus33.9SMO, PTCH2, PTCH1, TP53, MC1R, PCNA
2basal cell carcinoma30.9FANCC, MC1R, GSTM1, MMP3, XPA, PCNA
3carcinoma30.8HPSE, GLI1, PTCH1, SUFU, SUMO3, SMO
4spitz nevus29.9TP53, PCNA
5brachydactyly29.8ROR2, PTCH1, SHH
6xeroderma pigmentosum, group a29.8FANCC, XPA, PCNA, PTCH1, TP53
7xeroderma pigmentosum29.0XPA, PCNA, MC1R, FANCC, TP53, PTCH1
8desmoplastic medulloblastoma28.7PTCH1, SUFU
9inflammatory bowel disease27.0PCNA, GSTM1, GLI1, TP53, PTCH1, MMP3
10medulloblastoma27.0SMO, GLI1, SUFU, TP53, PTCH1, HPSE
11fanconi's anemia26.4PTCH1, TP53, XPA, PCNA, FANCC
12squamous cell carcinoma26.0FANCC, MC1R, GSTM1, XPA, TP53, PCNA
13breast cancer25.5HPSE, MC1R, GLI1, PCNA, XPA, MMP3
14melanoma25.4GAS1, ROR2, SHH, PTCH1, TP53, PCNA
15cervicitis24.3MMP3, GSTM1, PCNA, FANCC, HPSE, GLI1
16basal cell carcinoma, somatic13.4PTCH2, PTCH1, SMO
17rubinstein-taybi syndrome13.4GAS1, SAP18, KIF7
18multiple self healing squamous epithelioma13.2FANCC, XPA, PTCH1
19skin benign neoplasm13.2GLI1, PTCH1, XPA
20cerebellar liponeurocytoma13.1PTCH1, TP53
21smith-lemli-opitz syndrome13.1SHH, SMO, KIF7
22syndactyly13.0SHH, ROR2, KIF7, PTCH1
23craniofacial anomalies13.0PTCH1, SHH
24anal canal carcinoma12.9TP53, GLI1
25orbit embryonal rhabdomyosarcoma12.9PTCH1, GLI1, TP53
26syringocystadenoma papilliferum12.7PTCH1, PCNA
27polydactyly12.7GLI1, PTCH1, SHH, KIF7, ROR2
28holoprosencephaly12.7GLI1, PTCH1, GAS1, SHH, SMO
29adenoameloblastoma12.7GLI1, PCNA, PTCH1
30ovarian germ cell tumor12.5PCNA, TP53
31urinary bladder cancer12.5GSTM1, TP53, PTCH1
32bannayan-riley-ruvalcaba syndrome12.4KIF7, PTCH1, TP53, GSTM1
33hereditary mucosal leukokeratosis12.4PCNA, GSTM1
34maxillary sinus squamous cell carcinoma12.4PCNA, TP53
35brain cancer12.3GLI1, HPSE, TP53, PTCH1, SHH
36pallister-hall syndrome12.3GAS1, SHH, SMO, PTCH1, GLI1, SAP18
37tongue cancer12.3HPSE, TP53, PCNA
38pneumoconiosis12.2TP53, GSTM1, MMP3
39leiomyosarcoma12.1PCNA, GLI1, TP53, PTCH1
40pandas12.1TP53, XPA, GSTM1, PTCH1, FANCC
41nonencapsulated sclerosing carcinoma12.1TP53, HPSE, PCNA, PTCH1
42actinic keratosis12.1PCNA, MMP3, TP53
43barrett's adenocarcinoma11.9TP53, PCNA, GSTM1
44breast cancer susceptibility11.9MMP3, GSTM1, FANCC, TP53
45germ cell cancer11.9SHH, TP53, GLI1, PCNA
46ovarian mucinous neoplasm11.9GLI1, TP53, SHH, PCNA
47neuroendocrine carcinoma11.9TP53, SHH, GLI1, PCNA
48myeloid malignancy11.9GSTM1, GAS1, TP53
49anaplastic large cell lymphoma11.8GLI1, TP53, PCNA, SHH
50lichen planus11.8PCNA, TP53, MMP3, HPSE

Graphical network of the top 20 diseases related to nevoid basal cell carcinoma syndrome:



Graphical network of diseases related to nevoid basal cell carcinoma syndrome

Clinical Features for Nevoid Basal Cell Carcinoma Syndrome

Sources:
33OMIM
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Clinical features from OMIM: 109400

Drugs & Therapeutics for Nevoid Basal Cell Carcinoma Syndrome

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Nevoid Basal Cell Carcinoma Syndrome

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16GeneTests
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Genetic tests related to nevoid basal cell carcinoma syndrome:

id Genetic test Affiliating Genes
1 Nevoid Basal Cell Carcinoma Syndrome
clinical/research
PTCH1

Anatomical Context for Nevoid Basal Cell Carcinoma Syndrome

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22MalaCards
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MalaCards organs/tissues related to nevoid basal cell carcinoma syndrome:

22
Lung, Breast, Skin

Phenotypes for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

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25MGI
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MGI Mouse Phenotypes related to nevoid basal cell carcinoma syndrome:

25 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1respiratory system phenotypeMP:00053889.7SMO, GAS1
2craniofacial phenotypeMP:00053829.4GAS1, ROR2, SMO, PTCH1, MC1R, XPA
3pigmentation phenotypeMP:00011869.0GAS1, SUFU, PTCH1, TP53, MC1R, XPA
4skeleton phenotypeMP:00053908.6GAS1, ROR2, PTCH1, TP53, FANCC, MMP3
5vision/eye phenotypeMP:00053918.5GAS1, ROR2, SHH, SMO, PTCH1, TP53
6digestive/alimentary phenotypeMP:00053818.5SHH, SMO, PTCH2, PTCH1, TP53, GLI1
7tumorigenesisMP:00020068.4SHH, SUFU, PTCH2, PTCH1, TP53, GLI1
8no phenotypic analysisMP:00030128.3SUFU, TP53, GLI1, MC1R, PCNA, KIF7
9integument phenotypeMP:00107718.2SHH, SUFU, PTCH2, PTCH1, TP53, HPSE
10limbs/digits/tail phenotypeMP:00053718.0KIF7, GAS1, ROR2, SHH, SMO, PTCH1
11cardiovascular system phenotypeMP:00053858.0GAS1, ROR2, SHH, SMO, SUFU, PTCH2
12embryogenesis phenotypeMP:00053808.0GAS1, ROR2, SHH, SMO, SUFU, PTCH1
13endocrine/exocrine gland phenotypeMP:00053797.6ROR2, SHH, PTCH1, TP53, HPSE, GLI1
14reproductive system phenotypeMP:00053897.5ROR2, SHH, PTCH2, PTCH1, TP53, HPSE
15nervous system phenotypeMP:00036316.5GAS1, ROR2, SHH, SMO, SUFU, PTCH2
16cellular phenotypeMP:00053846.2PTCH1, SMO, SHH, ROR2, GAS1, TP53

Publications for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

Sources:
35PubMed
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Articles related to nevoid basal cell carcinoma syndrome:

(show all 49)
idTitleAuthorsYearAffiliating Genes
1Entire PTCH1 deletion is a common event in point muta tion-negative cases with nevoid basal cell carcinoma syndrome in Japan. (21210781)Nagao K.... Miyashita T.2011PTCH1
2Keratocystic odontogenic tumor associated with nevoid basal cell carcinoma syndrome: similar behavior to sporadic type? (20115971)Figueroa A.... Rivera H.2010TP53, PCNA, PTCH1
3Analysis of mutation in exon 17 of PTCH in patients w ith nevoid basal cell carcinoma syndrome. (19728145)Li J.... Wang W.2010PTCH1
4Testicular thecoma in an 11-year-old boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome). (20223301)Ueda M.... Ogawa O.2010PTCH1
5A novel missense mutation in the PTCH1 gene in a premature case of nevoid basal cell carcinoma syndrome. (19213655)Nakamura M.... Tokura Y.2009PTCH1
6Nevoid Basal cell carcinoma syndrome: a cephalometric study of patients and controls. (19165028)Leonardi R.... Lo Muzio L.2009PTCH1
7Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. (19233320)de Ravel T.J.... Devriendt K.2009PTCH1
8Nevoid basal cell carcinoma syndrome with cleft lip a nd palate associated with the novel PTCH gene mutations. (19521425)Sasaki R.... Akizuki T.2009PTCH1
9Multiple intracranial meningiomas causing papilledema and visual loss in a patient with nevoid Basal cell carcinoma syndrome. (18347458)Pribila J.T.... Trobe J.D.2008PTCH1
10A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome. (18272036)Lu Y.... Chen W.T.2008PTCH1
11A novel germ-line mutation of PTCH1 gene in a Japanese family of nevoid basal cell carcinoma syndrome: are the palmoplantar pits associated with true basal cell carcinoma? (18436435)Otsubo S.... Iizuka H.2008PTCH1
12Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome. (18539553)Le Brun Keris Y.... Lespinasse J.2008PTCH1, MC1R
13PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients. (18302678)Li T.J.... Zhao H.S.2008PTCH1
14A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome. (18068337)Honma M.... Iizuka H.2008PTCH1
15High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome. (17703323)Fujii K.... Miyashita T.2007PTCH1
16New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome. (17950424)Tachi N.... Miyashita T.2007PTCH1
17Skeletal and dermatological manifestations of the nevoid Basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years (17492539)Rupprecht M.... Pogoda P.2007PTCH1
18Analysis of the neoplastic nature and biological potential of sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumor. (17850439)Katase N.... Nagai N.2007HPSE
19Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome. (16675912)Song Y.L.... Bian Z.2006PTCH1
20Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. (15565302)Tanioka M.... Iizuka T.2005PTCH1
21DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. (16088933)Marsh A.... Chenevix-Trench G.2005PTCH1
22Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells. (16154602)Sugaya S.... Suzuki N.2005SUMO3
23Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. (15712338)Pastorino L.... Bianchi-Scarra G.2005PTCH1
24Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. (16301862)Klein R.D.... Bale A.E.2005PTCH1
25Imaging modality correlations of an odontogenic keratocyst in the nevoid basal cell carcinoma syndrome: a family case report. (15316550)Melo E.S.... Cavalcanti M.G.2004PTCH1
26Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. (15459969)Savino M.... Savoia A.2004PTCH1
27Nevoid basal cell carcinoma syndrome: a review of the literature and a report of a case. (15242385)Bakaeen G.... Dallal N.D.2004PTCH1
28Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients. (12655573)Fujii K.... Miyashita T.2003PTCH1
29A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma. (12604725)Tate G.... Mitsuya T.2003PTCH1
30Nevoid basal cell carcinoma syndrome - clinical manifestations and mutation analysis of a Taiwanese family. (14724726)Chung C.H.... Chao S.C.2003PTCH1
31Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. (11457640)Minami M.... Arase S.2001PTCH1
32Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. (11231326)Reifenberger J.... Hauschild A.2001PTCH1
33Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome. (11312426)Chiritescu E.... Maloney M.E.2001PTCH1
34Deletion analysis of the adenomatous polyposis coli and PTCH gene loci in patients with sporadic and nevoid basal cell carcinoma syndrome-associated medulloblastoma. (10375116)Vortmeyer A.O.... Zhuang Z.1999PTCH1
35Early diagnosis of nevoid basal cell carcinoma syndrome. (10332131)Lo Muzio L.... Procaccini M.1999PTCH1
36Expression of cell cycle and apoptosis-related proteins in sporadic odontogenic keratocysts and odontogenic keratocysts associated with the nevoid basal cell carcinoma syndrome. (10403462)Lo Muzio L.... De Rosa G.1999PCNA
37Molecular basis of the nevoid basal cell carcinoma syndrome. (9425597)Wicking C.... Bale A.E.1997PTCH1
38Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. (8981943)Wicking C.... Chenevix-Trench G.1997PTCH1
39No evidence of mutation in the human PTC gene, responsible for nevoid basal cell carcinoma syndrome, in human primary squamous cell carcinomas of the esophagus and lung. (9140104)Suzuki K.... Nakamura Y.1997PTCH1
40De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. (9415689)Wicking C.... Chenevix-Trench G.1997PTCH1
41Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. (8681379)Hahn H.... Bale A.E.1996PTCH1
42Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. (8840969)Chidambaram A.... Dean M.1996PTCH1
43The human growth-arrest-specific gene GAS1 maps outside the candidate region of the gene for nevoid basal cell carcinoma syndrome. (7956349)Wicking C.... Wainwright B.1995GAS1
44Glutathione S-transferase GSTM1 null genotype is not overrepresented in Australian patients with nevoid basal cell carcinoma syndrome or sporadic melanoma. (7634433)Shanley S.M.... Hayward N.1995GSTM1, PTCH1
45A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group A loci on chromosome 9q. (7829076)Morris D.J.... Reis A.1994XPA, FANCC, PTCH1
46Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. (8042673)Shanley S.... Chenevix-Trench G.1994PTCH1
47Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. (8001963)Wicking C.... Chenevix-Trench G.1994PTCH1
48Increased expression of matrix metalloproteinase-3 (stromelysin-1) in cultured fibroblasts and basal cell carcinomas of nevoid basal cell carcinoma syndrome. (7916987)Majmudar G.... Johnson T.M.1994MMP3
49Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity. (8352281)Chenevix-Trench G.... Goldgar D.1993PTCH1

Expression for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

Pathways for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

Sources:
41Thomson Reuters, 10EMD Millipore, 3Cell Signaling Technology, 36QIAGEN, 20KEGG
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Compounds for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

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42Tocris Bioscience, 32Novoseek , 34PharmGKB, 9DrugBank
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Compounds related to nevoid basal cell carcinoma syndrome according to GeneDecks:

idCompoundScoreTop Affiliating Genes
1sant-242 10.0SHH, SMO
220(s)-hydroxycholesterol42 10.0SHH, SMO
3sant-142 9.9SHH, SMO
4cyclopamine32 9.5GLI1, PTCH1, SMO, SHH
5benzo(a)pyrene32 8.9XPA, GSTM1, TP53
68-oxo-dg32 8.7TP53, GSTM1, PCNA
7mitomycin c32 8.6TP53, FANCC, XPA, PCNA
8oxaliplatin32 34 9 9 11.6XPA, GSTM1, TP53

GO Terms for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

Sources:
12Gene Ontology
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Biological processes related to nevoid basal cell carcinoma syndrome according to GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of hh target transcription factor activityGO:00722810.1SHH, SMO
2determination of left/right asymmetry in lateral mesodermGO:00314010.1SHH, SMO
3smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:02193810.1GLI1, SHH
4regulation of smoothened signaling pathwayGO:00858910.0GAS1, PTCH1, GLI1
5ventral midline developmentGO:00741810.0SHH, GLI1
6renal system developmentGO:07200110.0PTCH1, SMO, SHH
7cellular response to cholesterolGO:07139710.0SMO, PTCH1
8somite developmentGO:06105310.0PTCH1, SMO, SHH
9skin developmentGO:0435889.8SHH, SUFU, PTCH2
10dorsal/ventral pattern formationGO:0099539.8GLI1, PTCH1, SHH
11positive regulation of protein import into nucleusGO:0423079.8SHH, SMO
12negative regulation of smoothened signaling pathwayGO:0458799.8KIF7, PTCH1, PTCH2, SUFU, GAS1
13positive regulation of smoothened signaling pathwayGO:0458809.7GAS1, SHH, GLI1, KIF7
14dorsal/ventral neural tube patterningGO:0219049.7GAS1, SHH
15negative regulation of canonical Wnt receptor signaling pathwayGO:0900909.7ROR2, SHH, GLI1
16heart loopingGO:0019479.7SUFU, SMO, SHH
17smoothened signaling pathwayGO:0072249.7SHH, SMO, PTCH1, GLI1
18nucleotide-excision repairGO:0062899.0TP53, FANCC, XPA, PCNA
19negative regulation of transcription from RNA polymerase II promoterGO:0001228.9TP53, PTCH1, SUFU, SMO, SHH

Molecular functions related to nevoid basal cell carcinoma syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1smoothened bindingGO:00511910.2PTCH2, PTCH1
2hedgehog receptor activityGO:00815810.1PTCH1, PTCH2
3hedgehog family protein bindingGO:09710810.0PTCH1, PTCH2
4patched bindingGO:0051139.6SMO, SHH
5protein bindingGO:0055155.6KIF7, GAS1, NPLOC4, SHH, SMO, SUMO3

Sources for Nevoid Basal Cell Carcinoma Syndrome

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS