BCNS
MCID: NVD001
MIFTS: 66

Nevoid Basal Cell Carcinoma Syndrome (BCNS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Cancer diseases, Bone diseases categories

Summaries for Nevoid Basal Cell Carcinoma Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Nevoid basal cell carcinoma syndrome (nbccs) is a condition that increases the risk to develop various cancerous and noncancerous tumors. the most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. people with nbccs may also have benign jaw tumors called keratocystic odontogenic tumors. other tumors that may occur include medulloblastomas, and fibromas in the heart or ovaries. additional features in people with nbccs may include skin pits on the hands and feet; large head size (macrocephaly); and/or bone abnormalities of the spine, ribs, or skull. nbccs is inherited in an autosomal dominant manner and is caused by mutations in the ptch1 gene. last updated: 7/16/2014

MalaCards: Nevoid Basal Cell Carcinoma Syndrome, also known as basal cell nevus syndrome, is related to basal cell carcinoma and medulloblastoma, and has symptoms including anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia, coloboma of iris and autosomal dominant inheritance. An important gene associated with Nevoid Basal Cell Carcinoma Syndrome is PTCH2 (patched 2), and among its related pathways are Hedgehog signaling events mediated by Gli proteins and Pathways in cancer. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are digestive/alimentary and hearing/vestibular/ear.

Genetics Home Reference:22 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.

Wikipedia:66 Nevoid basal cell carcinoma syndrome (NBCCS), also known as basal cell nevus syndrome, multiple basal... more...

Description from OMIM:48 109400

GeneReviews summary for bcns

Aliases & Classifications for Nevoid Basal Cell Carcinoma Syndrome

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 50Orphanet, 10diseasecard, 48OMIM, 63UMLS, 23GTR, 59SNOMED-CT, 36MeSH, 41NCIt, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
nevoid basal cell carcinoma syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

nevoid basal cell carcinoma syndrome 9 20 44 21 22 11 46 50
basal cell nevus syndrome 9 10 20 44 22 48 50 63
gorlin syndrome 9 20 44 23 22 50
nbccs 20 22 50
gorlin-goltz syndrome 44 22
bcns 20 22
multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies 44
naevoid basal cell carcinoma syndrome 9
fifth phacomatosis 44


External Ids:

Disease Ontology9 DOID:2512
OMIM48 109400
NCIt41 C2892
ICD10 via Orphanet27 Q87.8
SNOMED-CT via Orphanet60 69408002
UMLS via Orphanet64 C0004779

Related Diseases for Nevoid Basal Cell Carcinoma Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Nevoid Basal Cell Carcinoma Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1basal cell carcinoma32.3PTCH1, SUFU, MC1R, XPA
2medulloblastoma31.2SUFU, HPSE, PTCH1, PTCH2
3meningioma31.1PTCH1
4xeroderma pigmentosum30.5PTCH1, XPA
5basal cell carcinoma, somatic30.4PTCH1, PTCH2
6brachydactyly30.4ROR2, PTCH1
7meier-gorlin syndrome10.8
8fibroma10.6
9ovarian fibroma10.6
10infundibulocystic basal cell carcinoma10.5
11breast cancer10.5
12fibrosarcoma10.5
13leiomyosarcoma10.5
14basaloid follicular hamartoma10.5
15hypertelorism, microtia, facial clefting syndrome10.5
16lopes gorlin syndrome10.4
17meier-gorlin syndrome 110.4
18dysplastic nevus syndrome10.4
19meier-gorlin syndrome 210.4
20meier-gorlin syndrome 510.4
21meier-gorlin syndrome 410.4
22meier-gorlin syndrome 310.4
23deficiency anemia10.3
24neurofibromatosis10.3
25benign mesenchymoma10.3
26spondylolisthesis10.3
27neuronitis10.3
28cleft lip10.3
29iron deficiency anemia10.3
30testicular thecoma10.3
31situs inversus10.3
32von willebrand's disease10.3
33renal agenesis10.3
34folliculitis10.3
35acrokeratosis verruciformis10.3
36west syndrome10.3
37empty sella syndrome10.3
38childhood medulloblastoma10.3
39cervicitis10.3
40hodgkin's lymphoma10.3
41hypertension10.3
42mediastinitis10.3
43melanoma10.3
44mesenchymoma10.3
45papilledema10.3
46thyroiditis10.3
47urticaria10.3
48eosinophilic pustular folliculitis10.3
49familial breast cancer10.3
50lymphomatoid papulosis10.3

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



Diseases related to nevoid basal cell carcinoma syndrome

Symptoms for Nevoid Basal Cell Carcinoma Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

109400

Clinical features from OMIM:

109400

Symptoms:

50 (show all 28)
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • coloboma of iris
  • autosomal dominant inheritance
  • vertebral segmentation anomaly/hemivertebrae
  • long hand/arachnodactyly
  • anomalies of the neck
  • dermoid sinus/dimple/pit (excluding sacral)
  • neoplasms/tumors
  • glaucoma
  • prognathism/prognathia
  • cataract/lens opacification
  • hydrocephaly
  • pigmented naevi/naevus pigmentosus/lentigo
  • intracranial/cerebral calcifications
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • scoliosis
  • hypertelorism
  • multiple caries
  • abnormal vertebral size/shape
  • telecanthus/canthal dystopy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • broad nasal root
  • strabismus/squint
  • short hand/brachydactyly
  • epicanthic folds
  • brachycephaly/flat occiput
  • late puberty/hypogonadism/hypogenitalism
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Nevoid Basal Cell Carcinoma Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Nevoid Basal Cell Carcinoma Syndrome

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Search CenterWatch for Nevoid Basal Cell Carcinoma Syndrome

Genetic Tests for Nevoid Basal Cell Carcinoma Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Nevoid Basal Cell Carcinoma Syndrome:

id Genetic test Affiliating Genes
1 Nevoid Basal Cell Carcinoma Syndrome21 PTCH1
2 Gorlin Syndrome23

Anatomical Context for Nevoid Basal Cell Carcinoma Syndrome

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34MalaCards
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MalaCards organs/tissues related to Nevoid Basal Cell Carcinoma Syndrome:

34
Skin, Bone, Eye, Ovary, Heart, Testes, Olfactory bulb, Breast, Brain, Uterus, Lung, Thyroid, Trachea

Animal Models for Nevoid Basal Cell Carcinoma Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Nevoid Basal Cell Carcinoma Syndrome:

38 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.2PTCH2, PTCH1, SUFU, ROR2
2MP:00053779.0ROR2, GAS1, MC1R
3MP:00053808.9PTCH1, ROR2, GAS1, SUFU
4MP:00053918.8PTCH1, ROR2, GAS1, XPA
5MP:00053898.7XPA, PTCH2, PTCH1, ROR2
6MP:00053758.7XPA, ROR2, SUFU
7MP:00020068.6PTCH2, XPA, MC1R, PTCH1, SUFU
8MP:00011868.5PTCH1, SUFU, MC1R, XPA, GAS1
9MP:00053908.5PTCH1, ROR2, XPA, GAS1, SUFU
10MP:00053718.4GAS1, ROR2, MC1R, PTCH1, XPA
11MP:00053798.3ROR2, PTCH1, XPA, HPSE
12MP:00053848.2ROR2, GAS1, PTCH1, MC1R, XPA
13MP:00036318.2ROR2, PTCH2, PTCH1, SUFU, XPA, GAS1
14MP:00053828.0MC1R, ROR2, GAS1, SUFU, PTCH1, XPA
15MP:00053858.0PTCH2, SUFU, HPSE, ROR2, GAS1, PTCH1
16MP:00053787.9GAS1, XPA, PTCH1, SUFU, MC1R, ROR2
17MP:00107717.8SUFU, XPA, PTCH1, HPSE, MC1R, PTCH2

Publications for Nevoid Basal Cell Carcinoma Syndrome

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53PubMed
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Articles related to Nevoid Basal Cell Carcinoma Syndrome:

(show top 50)    (show all 288)
idTitleAuthorsYear
1
Case of the month. Multiple odontogenic keratocysts in association with nevoid basal cell carcinoma syndrome (NBCCS). (24400412)
2013
2
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. (22918513)
2013
3
Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report. (23837959)
2013
4
Medullary thyroid carcinoma and 2q37 deletion in a patient with nevoid basal cell carcinoma syndrome: clinical description and genetic analysis. (22319002)
2013
5
Palmar pits associated with the nevoid basal cell carcinoma syndrome. (22845656)
2012
6
Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation. (22829011)
2012
7
Topical treatment of Basal cell carcinomas in nevoid Basal cell carcinoma syndrome with a smoothened inhibitor. (21430703)
2011
8
Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan. (21210781)
2011
9
Basal cell carcinoma of the buccal mucosa in a patient with nevoid basal cell carcinoma syndrome. (19124449)
2011
10
Photodynamic therapy for treatment of multiple lesions on the scalp in nevoid basal cell carcinoma syndrome: case report. (20944918)
2010
11
The occurrence of keratocystic odontogenic tumours in nevoid basal cell carcinoma syndrome. (19767519)
2009
12
A 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)
2008
13
Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome. (18539553)
2008
14
Nevoid basal cell carcinoma syndrome (Gorlin syndrome). (19032739)
2008
15
Sinonasal carcinoma after irradiation for medulloblastoma in nevoid basal cell carcinoma syndrome. (17826543)
2007
16
Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome. (16675912)
2006
17
Broad area photodynamic therapy for treatment of multiple basal cell carcinomas in a patient with nevoid basal cell carcinoma syndrome. (16485873)
2006
18
Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. (15565302)
2005
19
Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. (15712338)
2005
20
Cysts of the jaws and advances in the diagnosis and management of nevoid Basal cell carcinoma syndrome. (18088795)
2005
21
Nevoid basal cell carcinoma syndrome: a review of the literature and a report of a case. (15242385)
2004
22
Primary ovarian leiomyosarcoma as a new component in the nevoid basal cell carcinoma syndrome: a case report. (12712116)
2003
23
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients. (12655573)
2003
24
Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature. (12879481)
2003
25
Molecular approaches to the diagnosis of sporadic and nevoid basal cell carcinoma syndrome-associated odontogenic keratocysts. (18088695)
2003
26
Successful treatment of basal cell carcinomas in a nevoid basal cell carcinoma syndrome with topical 5% imiquimod. (12459530)
2002
27
Nevoid basal cell carcinoma syndrome in an African American woman. (12041818)
2002
28
Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. (11457640)
2001
29
Eosinophilic pustular folliculitis in association with nevoid basal cell carcinoma syndrome. (11558878)
2001
30
Two male patients with nevoid basal cell carcinoma syndrome from Turkey. (11765170)
2001
31
Molecular basis of the nevoid basal cell carcinoma syndrome. (9425597)
1997
32
Abnormal DNA synthesis activity induced by X-rays in nevoid basal cell carcinoma syndrome cells. (9388465)
1997
33
Most 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)
1997
34
Failure of interferon alfa and isotretinoin combination therapy in the nevoid basal cell carcinoma syndrome. (8546496)
1996
35
Fetal rhabdomyoma and nevoid basal cell carcinoma syndrome. (1409143)
1992
36
The nevoid basal cell carcinoma syndrome--Gorlin's syndrome. Multiple jaw cysts and skin cancer. (2799659)
1989
37
No evidence of chromosomal instability in nevoid basal-cell carcinoma syndrome. (2492367)
1989
38
Nevoid basal cell carcinoma syndrome: bilateral ovarian fibromas in a 3 1/2-year-old girl. (3950141)
1986
39
Multiple nevoid basal cell carcinoma syndrome and Hodgkin's disease. (6722731)
1984
40
Cervical spondylolisthesis associated with the multiple nevoid basal cell carcinoma syndrome. (7067221)
1982
41
Nevoid basal cell carcinoma syndrome. (6948558)
1981
42
Recurrence of the odontogenic keratocyst in 13 patients with the nevoid basal cell carcinoma syndrome. A 6-year follow-up. (6777316)
1980
43
The multiple nevoid basal cell carcinoma syndrome. Report of its occurrence in four generations of a family. (7417945)
1980
44
Nevoid basal cell carcinoma syndrome: conservative dental treatment. (6783567)
1980
45
Ultrastructure of epithelial lining of keratocysts in nevoid basal cell carcinoma syndrome. (818041)
1976
46
Multiple keratocysts of the jaws as a manifestation of the nevoid basal cell carcinoma syndrome: report of a case and its surgical management. (1075799)
1975
47
Nevoid basal-cell carcinoma syndrome. Report of a pedigree with electron microscopy of skin lesions. (4517105)
1973
48
Multiple nevoid basal cell carcinoma syndrome:radiological manifestations. (4882507)
1969
49
Nevoid basal cell carcinoma syndrome. (6075792)
1967
50
THE NEVOID BASAL-CELL CARCINOMA SYNDROME. (14299445)
1965

Variations for Nevoid Basal Cell Carcinoma Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Nevoid Basal Cell Carcinoma Syndrome:

65
id Symbol AA change Variation ID SNP ID
1PTCH1p.Leu175ProVAR_007843
2PTCH1p.Phe376SerVAR_007844
3PTCH1p.Arg1114TrpVAR_007847
4PTCH1p.Gly509ValVAR_010975
5PTCH1p.Asp513TyrVAR_010976
6PTCH1p.Gly1069ArgVAR_010979
7PTCH1p.Ser1132ProVAR_010980
8PTCH1p.Ser1132TyrVAR_010981
9PTCH1p.Glu1438AspVAR_010984
10PTCH1p.Thr230ProVAR_020845

Clinvar genetic disease variations for Nevoid Basal Cell Carcinoma Syndrome:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1SUFUNM_016169.3(SUFU): c.1022+1G> Asingle nucleotide variantPathogenicGRCh37Chr 10, 104359302: 104359302
2PTCH1PTCH1, TRP129TERsingle nucleotide variantPathogenic
3PTCH2NM_001166292.1(PTCH2): c.2156G> A (p.Arg719Gln)single nucleotide variantPathogenicrs121434397GRCh37Chr 1, 45293289: 45293289
4PTCH1PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INSinsertionPathogenic
5PTCH1PTCH1, 11-BP DEL, NT2442deletionPathogenic
6PTCH1NM_000264.3(PTCH1): c.1081C> T (p.Gln361Ter)single nucleotide variantPathogenicrs199476090GRCh37Chr 9, 98241416: 98241416
7PTCH1PTCH1, 37-BP DEL, NT808deletionPathogenic
8PTCH1PTCH1, 1148G-Asingle nucleotide variantPathogenic
9PTCH1PTCH1, 2-BP INS, 2047CTinsertionPathogenic
10PTCH1PTCH1, 1-BP INS, 2000CinsertionPathogenic
11PTCH1PTCH1, 1-BP DEL, 2583CdeletionPathogenic
12PTCH1NM_000264.3(PTCH1): c.2479A> G (p.Ser827Gly)single nucleotide variantPathogenic, Uncertain significancers199476092GRCh37Chr 9, 98229479: 98229479
13PTCH1NM_000264.3(PTCH1): c.3155C> T (p.Thr1052Met)single nucleotide variantPathogenic, Uncertain significancers138911275GRCh37Chr 9, 98220308: 98220308
14PTCH1PTCH1, 1-BP INS, 1247TinsertionPathogenic

Expression for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

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Pathways for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

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51PathCards, 39NCBI BioSystems Database, 31KEGG, 5Cell Signaling Technology, 56Reactome, 62Tocris Bioscience, 54QIAGEN
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Compounds for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

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GO Terms for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

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17Gene Ontology
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Cellular components related to Nevoid Basal Cell Carcinoma Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1primary ciliumGO:0723729.5SUFU, PTCH1
2plasma membraneGO:0058868.2GAS1, ROR2, MC1R, OR10X1, PTCH1

Biological processes related to Nevoid Basal Cell Carcinoma Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of osteoblast differentiationGO:0456689.9SUFU, PTCH1
2regulation of smoothened signaling pathwayGO:0085899.9PTCH1, GAS1
3negative regulation of epithelial cell proliferationGO:0506809.8GAS1, PTCH1
4negative regulation of sequence-specific DNA binding transcription factor activityGO:0434339.8PTCH1, SUFU
5epidermis developmentGO:0085449.8PTCH1, PTCH2
6neural tube closureGO:0018439.7PTCH1, SUFU
7negative regulation of smoothened signaling pathwayGO:0458799.2GAS1, SUFU, PTCH1, PTCH2
8multicellular organismal developmentGO:0072759.1ROR2, MC1R, SUFU
9positive regulation of protein kinase B signalingGO:0518978.8HPSE, MC1R

Molecular functions related to Nevoid Basal Cell Carcinoma Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1smoothened bindingGO:0051199.8PTCH1, PTCH2
2hedgehog family protein bindingGO:0971089.7PTCH1, PTCH2
3hedgehog receptor activityGO:0081589.5PTCH2, PTCH1
4protein bindingGO:0055156.9XPA, PTCH1, SUFU, GAS1, HPSE, ROR2

Products for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

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Sources for Nevoid Basal Cell Carcinoma Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet