BCNS
MCID: NVD001
MIFTS: 75

Nevoid Basal Cell Carcinoma Syndrome (BCNS) malady

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

Summaries for Nevoid Basal Cell Carcinoma Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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. last updated: 7/23/2010

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 multiple caries, vertebral segmentation anomaly/hemivertebrae and long hand/arachnodactyly. An important gene associated with Nevoid Basal Cell Carcinoma Syndrome is PTCH1 (patched 1), and among its related pathways are Glypican 3 network and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds 20(s)-hydroxycholesterol and ay 9944 dihydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are pigmentation and reproductive system.

Genetics Home Reference:21 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:63 Nevoid basal cell carcinoma syndrome (NBCCS), also known as basal cell nevus syndrome, multiple basal... more...

Description from OMIM:46 109400

GeneReviews summary for bcns

Aliases & Classifications for Nevoid Basal Cell Carcinoma Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 8 19 42 20 21 10 44 48
basal cell nevus syndrome 8 9 19 42 21 46 48 60
gorlin syndrome 8 19 42 22 21 48
nbccs 19 21 48
gorlin-goltz syndrome 42 21
bcns 19 21
multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies 42
naevoid basal cell carcinoma syndrome 8
fifth phacomatosis 42


External Ids:

Disease Ontology8 DOID:2512
NCIt39 C2892
OMIM46 109400
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 69408002

Related Diseases for Nevoid Basal Cell Carcinoma Syndrome

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17GeneCards, 18GeneDecks
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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 113)
idRelated DiseaseScoreTop Affiliating Genes
1basal cell carcinoma32.2GLI1, XPA, MC1R, MMP3, SUFU, SMO
2medulloblastoma31.2HPSE, PTCH2, SMO, PTCH1, GLI1, SHH
3breast cancer30.6MMP3, GLI1, HPSE, MC1R, FANCC, PTCH1
4squamous cell carcinoma30.6FANCC, XPA, GLI1, HPSE, MC1R, MMP3
5xeroderma pigmentosum30.4PTCH1, XPA
6melanoma30.4GLI1, MC1R, PTCH1, HPSE
7basal cell carcinoma, somatic30.2PTCH1, PTCH2
8brachydactyly30.2ROR2, PTCH1
9adenocarcinoma30.2XPA, GLI1, HPSE, PTCH1
10meningioma10.6
11meier-gorlin syndrome10.6
12focal dermal hypoplasia10.5
13nodular basal cell carcinoma10.5
14follicular basal cell carcinoma10.5
15infundibulocystic basal cell carcinoma10.5
16epilepsy syndrome10.5
17fibrosarcoma10.5
18leiomyosarcoma10.5
19renal cell carcinoma10.5
20image syndrome10.5
21bixler christian gorlin syndrome10.4
22lopes gorlin syndrome10.4
23meier-gorlin syndrome 110.4
24dysplastic nevus syndrome10.3
25meier-gorlin syndrome 210.3
26meier-gorlin syndrome 510.3
27meier-gorlin syndrome 410.3
28meier-gorlin syndrome 310.3
29deficiency anemia10.3
30neurofibromatosis10.3
31spondylolisthesis10.3
32benign mesenchymoma10.3
33von willebrand's disease10.3
34renal agenesis10.3
35superficial basal cell carcinoma10.3
36folliculitis10.3
37west syndrome10.3
38empty sella syndrome10.3
39fanconi syndrome10.3
40maxillary sinus squamous cell carcinoma10.3
41cleft lip10.3
42neuronitis10.3
43testicular thecoma10.3
44iron deficiency anemia10.3
45cleft palate10.3
46situs inversus10.3
47sebaceous basal cell carcinoma10.3
48acrokeratosis verruciformis10.3
49adult syndrome10.3
50down syndrome10.3

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



Diseases related to nevoid basal cell carcinoma syndrome

Clinical Features for Nevoid Basal Cell Carcinoma Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

109400

Clinical synopsis from OMIM:

109400

Symptoms:

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

Drugs & Therapeutics for Nevoid Basal Cell Carcinoma Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Genetic Tests for Nevoid Basal Cell Carcinoma Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Nevoid Basal Cell Carcinoma Syndrome:

id Genetic test Affiliating Genes
1 Nevoid Basal Cell Carcinoma Syndrome20 PTCH1
2 Gorlin Syndrome22

Anatomical Context for Nevoid Basal Cell Carcinoma Syndrome

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32MalaCards
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MalaCards organs/tissues related to Nevoid Basal Cell Carcinoma Syndrome:

32
Skin, Bone, Eye, Testes, Olfactory bulb, Breast, Trachea, Brain, Lung, Thyroid, Ovary, Uterus

Animal Models for Nevoid Basal Cell Carcinoma Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Nevoid Basal Cell Carcinoma Syndrome:

36 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.8GAS1, XPA, MC1R, SUFU, PTCH1
2MP:00053899.6FANCC, GLI1, KIF7, PTCH2, PTCH1
3MP:00020069.4XPA, SHH, GLI1, MC1R, SUFU, PTCH2
4MP:00053779.3GAS1, SHH, MC1R, ROR2, SMO
5MP:00107719.3HPSE, MC1R, SUFU, PTCH2, PTCH1
6MP:00053889.2GAS1, SHH, GLI1, ROR2, KIF7, PTCH1
7MP:00030129.1SHH, GLI1, MC1R, KIF7, SUMO3, SUFU
8MP:00053919.1GAS1, XPA, SHH, ROR2, KIF7, PTCH1
9MP:00053819.1SHH, GLI1, ROR2, KIF7, SUFU, PTCH2
10MP:00053799.0FANCC, XPA, SHH, GLI1, HPSE, ROR2
11MP:00053809.0GAS1, SHH, GLI1, ROR2, KIF7, SUFU
12MP:00053718.9SMO, GAS1, XPA, SHH, GLI1, MC1R
13MP:00053828.9GAS1, XPA, SHH, MC1R, ROR2, KIF7
14MP:00053858.9GAS1, SHH, HPSE, ROR2, KIF7, SUFU
15MP:00053788.6XPA, SHH, GLI1, MC1R, ROR2, SUFU
16MP:00053908.6FANCC, GAS1, XPA, SHH, MMP3, ROR2
17MP:00053848.5FANCC, GAS1, XPA, SHH, GLI1, MC1R
18MP:00036318.5GAS1, XPA, SHH, GLI1, MMP3, ROR2

Publications for Nevoid Basal Cell Carcinoma Syndrome

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50PubMed
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Articles related to Nevoid Basal Cell Carcinoma Syndrome:

(show top 50)    (show all 296)
idTitleAuthorsYear
1
Synchronous occurrence of odontogenic myxoma with multiple keratocystic odontogenic tumors in nevoid basal cell carcinoma syndrome. (24163866)
2013
2
Nevoid basal cell carcinoma syndrome: a 40-year study in the South African population. (22742575)
2013
3
Peripheral odontogenic keratocyst associated with nevoid basal cell carcinoma syndrome: a case report. (24332158)
2013
4
Nevoid basal cell carcinoma syndrome: our experience in a pediatric hospital. (23669591)
2013
5
Proteomic Analysis of PTCH1+/- Fibroblast Lysate and Conditioned Culture Media Isolated from the Skin of Healthy Subjects and Nevoid Basal Cell Carcinoma Syndrome Patients. (24369017)
2013
6
Unicystic ameloblastoma associated with the novel K729M PTCH1 mutation in a patient with nevoid basal cell carcinoma (Gorlin) syndrome. (22559979)
2012
7
Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome. (22952776)
2012
8
Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report. (22844361)
2012
9
Elongated styloid process associated with nevoid basal cell carcinoma syndrome. (22067864)
2011
10
Analysis of mutation in exon 17 of PTCH in patients with nevoid basal cell carcinoma syndrome. (19728145)
2010
11
The occurrence of keratocystic odontogenic tumours in nevoid basal cell carcinoma syndrome. (19767519)
2009
12
Nevoid basal cell carcinoma syndrome versus generalized basaloid follicular hamartoma syndrome. (19476535)
2009
13
Odontogenic keratocysts in Nevoid basal cell carcinoma syndrome: a case report. (20111613)
2009
14
Nevoid Basal cell carcinoma syndrome: a cephalometric study of patients and controls. (19165028)
2009
15
Nevoid basal cell carcinoma syndrome (Gorlin syndrome): updated review of minimally invasive treatments. (18306849)
2008
16
A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome. (18068337)
2008
17
Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome. (16675912)
2006
18
Nevoid basal cell carcinoma syndrome. (16900896)
2006
19
Cysts of the jaws and advances in the diagnosis and management of nevoid Basal cell carcinoma syndrome. (18088795)
2005
20
Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals. (15183409)
2004
21
Imaging modality correlations of an odontogenic keratocyst in the nevoid basal cell carcinoma syndrome: a family case report. (15316550)
2004
22
Nevoid basal cell carcinoma syndrome or multiple hereditary infundibulocystic basal cell carcinoma syndrome? (15583598)
2004
23
Bilateral epiretinal membranes in nevoid basal cell carcinoma syndrome. (15291951)
2004
24
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. (15459969)
2004
25
Nevoid basal cell carcinoma syndrome: a review of the literature. (15050066)
2004
26
Molecular approaches to the diagnosis of sporadic and nevoid basal cell carcinoma syndrome-associated odontogenic keratocysts. (18088695)
2003
27
Nevoid basal cell carcinoma syndrome associated with lymphomatoid papulosis. (12835561)
2003
28
Successful treatment of basal cell carcinomas in a nevoid basal cell carcinoma syndrome with topical 5% imiquimod. (12459530)
2002
29
Bilateral hyperplasia of the mandibular coronoid processes in patients with nevoid basal cell carcinoma syndrome: an undescribed sign. (12116218)
2002
30
A sebaceous nevus in a child with the nevoid basal cell carcinoma syndrome. (11123792)
2000
31
Expression of cell cycle and apoptosis-related proteins in sporadic odontogenic keratocysts and odontogenic keratocysts associated with the nevoid basal cell carcinoma syndrome. (10403462)
1999
32
The nevoid basal cell carcinoma syndrome: genetics and mechanism of carcinogenesis. (9095215)
1997
33
Nevoid basal cell carcinoma syndrome with medulloblastoma in an African-American boy: a rare case illustrating gene-environment interaction. (9096762)
1997
34
Complications of the nevoid basal cell carcinoma syndrome: a case report. (9201152)
1997
35
Paratesticular fibrous pseudotumor in a patient with Gorlin's syndrome: nevoid basal cell carcinoma syndrome. (1404648)
1992
36
Nevoid basal cell carcinoma syndrome. A case report. (1822063)
1991
37
Aromatic retinoid in the chemoprevention of the progression of nevoid basal-cell carcinoma syndrome. (6491017)
1984
38
Variable expressivity of the multiple nevoid basal cell carcinoma syndrome. (6953173)
1982
39
The nevoid basal-cell carcinoma syndrome resulting in chronic iron-deficiency anemia. (7174999)
1982
40
Nevoid basal cell carcinoma syndrome and epilepsy. (7103417)
1982
41
The nevoid basal-cell carcinoma syndrome. Simultaneous extirpation of numerous basal-cell carcinomas on the face by curettage and electrodesiccation under general anesthesia. (7309975)
1981
42
Microscopically controlled surgery for carcinomas in patients with nevoid basal cell carcinoma syndrome. (7396540)
1980
43
Ultrastructure of epithelial lining of keratocysts in nevoid basal cell carcinoma syndrome. (818041)
1976
44
Clinical, radiologic, and histopathologic aspects of 13 cases of nevoid basal cell carcinoma syndrome. (818032)
1976
45
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
46
Nevoid basal cell carcinoma syndrome. Case report: histopathology of skeletal lesions. (4646264)
1972
47
Pursuit of the pits in the nevoid basal cell carcinoma syndrome. (5501899)
1970
48
Multiple nevoid basal cell carcinoma syndrome:radiological manifestations. (4882507)
1969
49
Nevoid basal cell carcinoma syndrome with associated fibrosarcoma of the maxilla. Report of a case. (5641334)
1968
50
Nevoid basal cell carcinoma syndrome. Some histologic observations on the cutaneous lesions. (5910873)
1966

Genetic Variations for Nevoid Basal Cell Carcinoma Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Nevoid Basal Cell Carcinoma Syndrome:

62
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

Expression for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

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1BioGPS, 15Gene 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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37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN, 4Cell Signaling Technology, 29KEGG, 59Tocris Bioscience
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Pathways related to Nevoid Basal Cell Carcinoma Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1PTCH1, SHH
2
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.5SMO, PTCH1, GLI1, SHH
3
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9.5ROR2, SUFU, PTCH2, SMO, GAS1
49.5SHH, GLI1, SUFU, PTCH2, PTCH1
59.4GAS1, SHH, PTCH2, PTCH1, SMO
69.2SHH, GLI1, SUFU, PTCH2, PTCH1, SMO
79.0SAP18, SHH, GLI1, SUFU, PTCH1, SMO
8
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9.0PTCH1, SAP18, GAS1, SHH, GLI1, SUFU
9
Hide members
8.8GAS1, SHH, GLI1, MC1R, SUFU, PTCH2

Compounds for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

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59Tocris Bioscience, 44Novoseek
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Compounds related to Nevoid Basal Cell Carcinoma Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
120(s)-hydroxycholesterol5910.0SHH, GLI1
2ay 9944 dihydrochloride5910.0GLI1, SHH
3ciliobrevin a599.9SHH, GLI1
4sant-1599.7SHH, GLI1
5cyclopamine44 5910.6SMO, PTCH1, GLI1, SHH

GO Terms for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

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16Gene Ontology
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Cellular components related to Nevoid Basal Cell Carcinoma Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1primary ciliumGO:0723729.6SMO, PTCH1, SUFU, GLI1

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1regulation of smoothened signaling pathwayGO:00858910.3PTCH1, GLI1, GAS1
2ventral midline developmentGO:00741810.3GLI1, SHH
3cellular response to cholesterolGO:07139710.2PTCH1, SMO
4determination of left/right asymmetry in lateral mesodermGO:00314010.2SMO, SHH
5cerebellar cortex morphogenesisGO:02169610.2SMO, GLI1
6positive regulation of hh target transcription factor activityGO:00722810.2SMO, SHH
7dorsal/ventral pattern formationGO:00995310.1SHH, GLI1, PTCH1
8mammary gland epithelial cell differentiationGO:06064410.1SMO, PTCH1
9somite developmentGO:06105310.1SHH, PTCH1, SMO
10renal system developmentGO:07200110.1SMO, PTCH1, SHH
11dorsal/ventral neural tube patterningGO:02190410.1GAS1, SHH, SMO
12spinal cord motor neuron differentiationGO:02152210.1SHH, PTCH1
13thalamus developmentGO:02179410.1SMO, SHH
14smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:02193810.0SMO, GLI1, SHH
15negative regulation of canonical Wnt receptor signaling pathwayGO:09009010.0ROR2, GLI1, SHH
16positive regulation of protein import into nucleusGO:04230710.0SMO, SHH
17protein localization to nucleusGO:0345049.9SMO, SUMO3, SHH
18heart loopingGO:0019479.9SHH, SUFU, SMO
19negative regulation of smoothened signaling pathwayGO:0458799.9GAS1, KIF7, SUFU, PTCH2, PTCH1
20neuron fate commitmentGO:0486639.9SMO, SHH
21smoothened signaling pathwayGO:0072249.9SHH, GLI1, PTCH1, SMO
22cell fate specificationGO:0017089.8SHH, SMO
23positive regulation of smoothened signaling pathwayGO:0458809.7SMO, KIF7, GLI1, SHH, GAS1
24positive regulation of neuroblast proliferationGO:0020529.6SMO, SHH

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

idNameGO IDScoreTop Affiliating Genes
1hedgehog family protein bindingGO:09710810.2PTCH1, PTCH2
2hedgehog receptor activityGO:00815810.0PTCHD3, PTCH1, PTCH2
3smoothened bindingGO:0051199.9PTCH1, PTCH2
4patched bindingGO:0051139.8SMO, PTCH1, SHH
5protein bindingGO:0055157.2GLI1, SHH, XPA, GAS1, FANCC, SAP18

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet