BCNS
MCID: NVD001
MIFTS: 66

Nevoid Basal Cell Carcinoma Syndrome (BCNS) malady

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

Summaries for Nevoid Basal Cell Carcinoma Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 squamous cell carcinoma, and has symptoms including frontal bossing/prominent forehead, hypertelorism and scoliosis. 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, ovary and brain, 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:64 Nevoid basal cell carcinoma syndrome (NBCCS), also known as basal cell nevus syndrome, multiple basal... more...

Description from OMIM:47 109400

GeneReviews summary for bcns

Aliases & Classifications for Nevoid Basal Cell Carcinoma Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Neuronal, Eye, Skin, Bone


Characteristics (Orphanet epidemiological data):

49
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 43 20 21 10 45 49
basal cell nevus syndrome 8 9 19 43 21 47 49 61
gorlin syndrome 8 19 43 22 21 49
nbccs 19 21 49
gorlin-goltz syndrome 43 21
bcns 19 21
multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies 43
naevoid basal cell carcinoma syndrome 8
fifth phacomatosis 43


External Ids:

Disease Ontology8 DOID:2512
NCIt40 C2892
OMIM47 109400
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 69408002

Related Diseases for Nevoid Basal Cell Carcinoma Syndrome

Sources:
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 134)
idRelated DiseaseScoreTop Affiliating Genes
1basal cell carcinoma32.3XPA, SHH, GLI1, MC1R, MMP3, SUFU
2squamous cell carcinoma30.7PTCH1, MMP3, MC1R, HPSE, GLI1, XPA
3xeroderma pigmentosum30.4XPA, PTCH1
4basal cell carcinoma, somatic30.3PTCH1, PTCH2
5brachydactyly30.3PTCH1, ROR2
6adenocarcinoma30.2PTCH1, HPSE, GLI1, XPA
7n syndrome11.5
8nevo syndrome11.5
9basal cell carcinoma, multiple11.0
10meier-gorlin syndrome10.7
11micro syndrome10.6
12ovarian fibroma10.6
13focal dermal hypoplasia10.5
14nodular basal cell carcinoma10.5
15follicular basal cell carcinoma10.5
16infundibulocystic basal cell carcinoma10.5
17b cell deficiency10.5
18basaloid follicular hamartoma10.5
19basal cell carcinoma 110.5
20basal cell carcinoma 210.5
21scalp syndrome10.5
22bixler christian gorlin syndrome10.4
23lopes gorlin syndrome10.4
24meier-gorlin syndrome 110.4
25dysplastic nevus syndrome10.3
26meier-gorlin syndrome 210.3
27meier-gorlin syndrome 510.3
28meier-gorlin syndrome 410.3
29meier-gorlin syndrome 310.3
30deficiency anemia10.3
31neurofibromatosis10.3
32spondylolisthesis10.3
33benign mesenchymoma10.3
34eye carcinoma10.3
35renal agenesis10.3
36superficial basal cell carcinoma10.3
37folliculitis10.3
38west syndrome10.3
39empty sella syndrome10.3
40fanconi syndrome10.3
41maxillary sinus squamous cell carcinoma10.3
42testicular thecoma10.3
43iron deficiency anemia10.3
44cleft palate10.3
45eyelid carcinoma10.3
46situs inversus10.3
47sebaceous basal cell carcinoma10.3
48acrokeratosis verruciformis10.3
49adult syndrome10.3
50nodular medulloblastoma10.3

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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

109400

Clinical synopsis from OMIM:

109400

Symptoms:

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

Drugs & Therapeutics for Nevoid Basal Cell Carcinoma Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Nevoid Basal Cell Carcinoma Syndrome

Search NIH Clinical Center for Nevoid Basal Cell Carcinoma Syndrome

Search CenterWatch for Nevoid Basal Cell Carcinoma Syndrome

Genetic Tests for Nevoid Basal Cell Carcinoma Syndrome

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

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

33
Skin, Ovary, Brain, Lung, Uterus, Thyroid, Breast, Fetal brain, Fetal lung, Trachea, Fetal thyroid

Animal Models for Nevoid Basal Cell Carcinoma Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Nevoid Basal Cell Carcinoma Syndrome:

37 (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

Sources:
51PubMed
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Articles related to Nevoid Basal Cell Carcinoma Syndrome:

(show top 50)    (show all 296)
idTitleAuthorsYear
1
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. (22918513)
2013
2
Nevoid basal cell carcinoma syndrome with a unilateral giant ovarian fibroma in a Japanese 6-year-old girl. (24257914)
2013
3
Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome. (23953420)
2013
4
Palmar pits associated with the nevoid basal cell carcinoma syndrome. (22845656)
2012
5
Diagnostic and pathogenetic role of cafAc-au-lait macules in nevoid basal cell carcinoma syndrome. (23107377)
2012
6
Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome. (22565648)
2012
7
Nevoid basal cell carcinoma syndrome. (22031649)
2011
8
Keratocystic odontogenic tumor associated with nevoid basal cell carcinoma syndrome: similar behavior to sporadic type? (20115971)
2010
9
Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis. (20068110)
2010
10
Is nevoid basal cell carcinoma syndrome really so rare? Proposal for an investigative protocol based on a case series. (20307772)
2010
11
Treatment of basal cell carcinomas in patients with nevoid basal cell carcinoma syndrome. (19207641)
2009
12
Multiple skin cysts in nevoid basal cell carcinoma syndrome: a case report and review of the literature. (18216479)
2008
13
Case 128: Bilateral ovarian fibromas in nevoid basal cell carcinoma syndrome. (18096544)
2008
14
DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. (16088933)
2005
15
Primary cutaneous carcinosarcoma arising in a patient with nevoid basal cell carcinoma syndrome. (16176303)
2005
16
Nevoid basal cell carcinoma syndrome: a review of the literature and a report of a case. (15242385)
2004
17
Implant prosthodontic rehabilitation of a patient with nevoid basal cell carcinoma syndrome: a clinical report. (12806318)
2003
18
Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. (11457640)
2001
19
Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. (11231326)
2001
20
Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses. (10355946)
1999
21
Early diagnosis of nevoid basal cell carcinoma syndrome. (10332131)
1999
22
Nevoid basal cell carcinoma syndrome in a black child. (9486718)
1998
23
Molecular basis of the nevoid basal cell carcinoma syndrome. (9425597)
1997
24
No 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)
1997
25
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. (8840969)
1996
26
Nevoid basal cell carcinoma syndrome. Report of a case with associated Hodgkin's disease. (7743241)
1995
27
Nevoid basal cell carcinoma syndrome. (7712637)
1995
28
Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. (8001963)
1994
29
Treating nevoid basal cell carcinoma syndrome. (8040523)
1994
30
Nevoid basal cell carcinoma syndrome. (7963674)
1994
31
Nevoid Basal Cell Carcinoma Syndrome (20301330)
1993
32
Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I. (1910262)
1991
33
Sister chromatid exchange and chromosome fragility in the nevoid basal cell carcinoma syndrome. (2507127)
1989
34
Nevoid basal-cell carcinoma syndrome. (3547011)
1987
35
Nevoid basal cell carcinoma syndrome: bilateral ovarian fibromas in a 3 1/2-year-old girl. (3950141)
1986
36
Hematoporphyrin derivative photoradiation therapy in managing nevoid basal-cell carcinoma syndrome. A preliminary report. (6234868)
1984
37
Cervical spondylolisthesis associated with the multiple nevoid basal cell carcinoma syndrome. (7067221)
1982
38
Central nervous system involvement in the nevoid basal cell carcinoma syndrome: case report and review of the literature. (7110567)
1982
39
Nevoid basal cell carcinoma syndrome. (6948558)
1981
40
Decreased UV-induced DNA repair synthesis in peripheral leukocytes from patients with the nevoid basal cell carcinoma syndrome. (7205027)
1981
41
Recurrence of the odontogenic keratocyst in 13 patients with the nevoid basal cell carcinoma syndrome. A 6-year follow-up. (6777316)
1980
42
Nevoid basal cell carcinoma syndrome: conservative dental treatment. (6783567)
1980
43
Nevoid basal cell carcinoma syndrome. Multiple basal cell carcinomas of the palms after radiation therapy. (7425663)
1980
44
Nevoid basal cell carcinoma syndrome: radiographic manifestations including cystlike lesions of the phalanges. (644054)
1978
45
Two cases of nevoid basal cell carcinoma syndrome. (930589)
1977
46
Craniofacial morphology in the nevoid basal cell carcinoma syndrome. (826494)
1976
47
Conservative treatment of cysts of the jaws in nevoid basal cell carcinoma syndrome:report of a case. (1056993)
1975
48
Nevoid basal-cell carcinoma syndrome. Report of a pedigree with electron microscopy of skin lesions. (4517105)
1973
49
The pits in the nevoid basal cell carcinoma syndrome. (5580318)
1971
50
Nevoid basal cell carcinoma syndrome. (5644102)
1968

Genetic Variations for Nevoid Basal Cell Carcinoma Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Nevoid Basal Cell Carcinoma Syndrome:

63 (show all 11)
id Symbol AA change Variation SNP ID
1PTCH1p.Leu175ProVAR_007843
2PTCH1p.Phe376SerVAR_007844
3PTCH1p.Arg1114TrpVAR_007847
4PTCH1p.Gly509ArgVAR_010974
5PTCH1p.Gly509ValVAR_010975
6PTCH1p.Asp513TyrVAR_010976
7PTCH1p.Gly1069ArgVAR_010979
8PTCH1p.Ser1132ProVAR_010980
9PTCH1p.Ser1132TyrVAR_010981
10PTCH1p.Glu1438AspVAR_010984
11PTCH1p.Thr230ProVAR_020845

Expression for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

Search GEO for disease gene expression data for Nevoid Basal Cell Carcinoma Syndrome.

Pathways for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 52QIAGEN, 4Cell Signaling Technology, 30KEGG, 60Tocris Bioscience
See all sources

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
Hide members
9.5SMO, PTCH1, GLI1, SHH
3
Hide members
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
Hide members
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

Sources:
60Tocris Bioscience, 45Novoseek
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Compounds related to Nevoid Basal Cell Carcinoma Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
120(s)-hydroxycholesterol6010.0SHH, GLI1
2ay 9944 dihydrochloride6010.0GLI1, SHH
3ciliobrevin a609.9SHH, GLI1
4sant-1609.7SHH, GLI1
5cyclopamine45 6010.6SMO, PTCH1, GLI1, SHH

GO Terms for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet