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
Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. (23479190)
2013
2
Perigestational dietary folic acid deficiency protects against medulloblastoma formation in a mouse model of nevoid basal cell carcinoma syndrome. (23909730)
2013
3
Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome. (22572734)
2012
4
Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome. (22711650)
2012
5
Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan. (21210781)
2011
6
Basal cell carcinoma of the buccal mucosa in a patient with nevoid basal cell carcinoma syndrome. (19124449)
2011
7
Complete basal cell carcinoma remission with imiquimod in a patient with nevoid basal cell carcinoma syndrome and associated basal cell carcinoma of the scalp and invasive ductal breast cancer. (21315966)
2011
8
Nevoid-basal cell carcinoma syndrome: a case report and overview on diagnosis and management. (23139577)
2010
9
Testicular thecoma in an 11-year-old boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome). (20223301)
2010
10
Nevoid basal cell carcinoma syndrome: a 17-year study of 19 cases in Iranian population (1991-2008). (20456618)
2010
11
A novel missense mutation in the PTCH1 gene in a premature case of nevoid basal cell carcinoma syndrome. (19213655)
2009
12
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. (19233320)
2009
13
Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome. (18539553)
2008
14
PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients. (18302678)
2008
15
A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome. (18272036)
2008
16
High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome. (17703323)
2007
17
Nevoid basal cell carcinoma syndrome successfully treated with trichloroacetic acid and phenol peeling. (18078412)
2007
18
Multifocal desmoplastic medulloblastoma in an african-american child with nevoid basal cell carcinoma (gorlin) syndrome. Case report. (17328283)
2006
19
PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study. (16909134)
2006
20
Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: case report and literature review. (16876065)
2006
21
Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. (15565302)
2005
22
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. (16301862)
2005
23
Nevoid basal cell carcinoma syndrome and fetal rhabdomyoma: a case study. (15586876)
2004
24
Odontogenic keratocysts in nevoid basal cell carcinoma (Gorlin's) syndrome: CT and MRI evaluation. (14986757)
2004
25
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients. (12655573)
2003
26
Odontogenic keratocysts in a 5-year-old: initial manifestations of nevoid basal cell carcinoma syndrome. (10730288)
2000
27
Intracranial calcifications in childhood medulloblastoma: relation to nevoid basal cell carcinoma syndrome. (10782799)
2000
28
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. (9096761)
1997
29
Glutathione S-transferase GSTM1 null genotype is not overrepresented in Australian patients with nevoid basal cell carcinoma syndrome or sporadic melanoma. (7634433)
1995
30
Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity. (8352281)
1993
31
Sun exposure and basal cell carcinomas in the nevoid basal cell carcinoma syndrome. (8315076)
1993
32
Pulmonary metastasis in nevoid basal cell carcinoma syndrome. (2045256)
1991
33
Increased head circumference and facial cleft as presenting signs of the nevoid basal-cell carcinoma syndrome. (1801852)
1991
34
Multiple papular and nodular lesions in a tall woman. Nevoid basal cell carcinoma syndrome. (1952981)
1991
35
No evidence of chromosomal instability in nevoid basal-cell carcinoma syndrome. (2492367)
1989
36
Nevoid basal cell carcinoma syndrome. (2774653)
1989
37
An unusual case of nevoid basal cell carcinoma syndrome involving treatment with radiotherapy. (3444906)
1987
38
Benign mesenchymoma in the trachea of a patient with the nevoid basal cell carcinoma syndrome. (3585168)
1987
39
Etretinate treatment of the nevoid basal cell carcinoma syndrome. Therapeutic and chemopreventive effect. (3443534)
1987
40
The nevoid basal cell carcinoma syndrome. (3783383)
1986
41
Multiple nevoid basal cell carcinoma syndrome and Hodgkin's disease. (6722731)
1984
42
Nevoid basal cell carcinoma syndrome. Profile of genetic and environmental factors in oncogenesis. (6736355)
1984
43
Nevoid basal cell carcinoma syndrome: review of the literature and report of a case. (6937630)
1981
44
The multiple nevoid basal cell carcinoma syndrome. Report of its occurrence in four generations of a family. (7417945)
1980
45
Structure and significance of the pits with their tumors in the nevoid basal cell carcinoma syndrome. (7364981)
1980
46
Multiple nevoid basal-cell carcinoma syndrome (Gorlin's syndrome): possible confusion with metastatic medulloblastoma. Case report. (758369)
1979
47
Nevoid basal cell carcinoma syndrome: conservative dental treatment. A case report. (297049)
1979
48
Linkage analysis of the nevoid basal cell carcinoma syndrome. (5715624)
1968
49
Nevoid basal cell carcinoma syndrome. (5634953)
1968
50
The nevoid basal cell carcinoma syndrome. (4960000)
1967

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