BCNS
MCID: NVD001
MIFTS: 69

Nevoid Basal Cell Carcinoma Syndrome (BCNS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Cancer diseases, Bone diseases categories
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Summaries for Nevoid Basal Cell Carcinoma Syndrome

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NIH Rare Diseases:42 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 based summary: Nevoid Basal Cell Carcinoma Syndrome, also known as basal cell nevus syndrome, is related to basal cell carcinoma and meningioma, and has symptoms including enlargment of jaw/large jaw, anomalies of teeth and dentition and dermoid sinus/dimple/pit (excluding sacral). 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 ovary, and related mouse phenotypes are digestive/alimentary and hearing/vestibular/ear.

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:65 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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Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 62UMLS, 9diseasecard, 46OMIM, 57SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Nevoid Basal Cell Carcinoma Syndrome, Aliases & Descriptions:

Name: Nevoid Basal Cell Carcinoma Syndrome 8 19 42 20 21 10 44 48
Basal Cell Nevus Syndrome 8 9 19 42 21 46 48 62
Gorlin Syndrome 8 19 42 22 21 48
Nbccs 19 21 48
Naevoid Basal Cell Carcinoma Syndrome 8 62
 
Gorlin-Goltz Syndrome 42 21
Bcns 19 21
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies 42
Fifth Phacomatosis 42


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


External Ids:

Disease Ontology8 DOID:2512
OMIM46 109400
NCIt39 C2892
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0004779

Related Diseases for Nevoid Basal Cell Carcinoma Syndrome

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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 103)
idRelated DiseaseScoreTop Affiliating Genes
1basal cell carcinoma31.9PTCH1, SUFU, MC1R, XPA
2meningioma31.5PTCH1
3medulloblastoma30.8HPSE, SUFU, PTCH1, PTCH2
4basal cell carcinoma, somatic30.7PTCH1, PTCH2
5brachydactyly30.6ROR2, PTCH1
6xeroderma pigmentosum30.6XPA, PTCH1
7meier-gorlin syndrome10.8
8fibroma10.7
9ovarian fibroma10.6
10focal dermal hypoplasia10.5
11infundibulocystic basal cell carcinoma10.5
12breast cancer10.5
13fibrosarcoma10.5
14leiomyosarcoma10.5
15basaloid follicular hamartoma10.5
16hypertelorism, microtia, facial clefting syndrome10.5
17lopes gorlin syndrome10.4
18meier-gorlin syndrome 110.4
19lobar holoprosencephaly10.4PTCH1
20meier-gorlin syndrome 210.4
21meier-gorlin syndrome 510.4
22meier-gorlin syndrome 410.4
23meier-gorlin syndrome 310.4
24deficiency anemia10.4
25west syndrome10.4
26hodgkin's lymphoma10.4
27hypertension10.4
28spondylolisthesis10.4
29benign mesenchymoma10.4
30testicular thecoma10.4
31renal agenesis10.4
32situs inversus10.4
33cleft lip10.4
34iron deficiency anemia10.4
35von willebrand's disease10.4
36superficial basal cell carcinoma10.4
37folliculitis10.4
38neurofibromatosis10.4
39acrokeratosis verruciformis10.4
40neuronitis10.4
41empty sella syndrome10.4
42childhood medulloblastoma10.4
43cervicitis10.4
44mediastinitis10.4
45melanoma10.4
46mesenchymoma10.4
47papilledema10.4
48thyroiditis10.4
49urticaria10.4
50eosinophilic pustular folliculitis10.4

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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Symptoms by clinical synopsis from OMIM:

109400

Clinical features from OMIM:

109400

Symptoms:

48 (show all 72)
  • enlargment of jaw/large jaw
  • anomalies of teeth and dentition
  • dermoid sinus/dimple/pit (excluding sacral)
  • chronic skin infection/ulcerations/ulcers/cancrum
  • follicular/erythematous/edematous papules/milium
  • pigmented naevi/naevus pigmentosus/lentigo
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • osteolysis/osteoclasia/bone destruction/erosions
  • bone cyst
  • neoplasms/tumors
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • autosomal dominant inheritance
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • frontal bossing/prominent forehead
  • broad nasal root
  • hamartoma/tumefaction of the tongue/gingivae/oral mucosa
  • anomalies of the neck
  • scoliosis
  • spina bifida occulta
  • abnormal vertebral size/shape
  • short hand/brachydactyly
  • palmoplantar hyperkeratosis/keratoderma
  • polyposis of the bowel/colon/intestine
  • abnormal/polycystic ovaries
  • skull/cranial anomalies
  • brachycephaly/flat occiput
  • hypertelorism
  • proptosis/exophthalmos
  • prognathism/prognathia
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • glaucoma
  • coloboma of iris
  • cataract/lens opacification
  • coloboma of the optic nerve
  • visual loss/blindness/amblyopia
  • strabismus/squint
  • nystagmus
  • epicanthic folds
  • telecanthus/canthal dystopy
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • cleft lip and palate
  • enamel anomaly
  • multiple caries
  • anomalies of ear and hearing
  • conductive deafness/hearing loss
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • anomalies of the ribs
  • vertebral segmentation anomaly/hemivertebrae
  • long hand/arachnodactyly
  • metacarpal anomalies/archibald's sign
  • syndactyly of fingers/interdigital palm
  • upper limb polydactyly/hexadactyly
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • bronchogenic cyst
  • carotid artery anomalies
  • renal/kidney anomalies
  • renal cyst (single)
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • late puberty/hypogonadism/hypogenitalism
  • hydrocephaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • digestive neoplasm/tumor/carcinoma/cancer
  • heart/cardiac tumor
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • sarcoma
  • glial tumor/glioblastoma
  • medulloblastoma
  • meningioma
  • tall stature/gigantism/growth acceleration

HPO human phenotypes related to Nevoid Basal Cell Carcinoma Syndrome:

(show all 110)
id Description Frequency HPO Source Accession
1 melanocytic nevus hallmark (90%) HP:0000995
2 osteolysis hallmark (90%) HP:0002797
3 neoplasm of the skin hallmark (90%) HP:0008069
4 sacrococcygeal pilonidal abnormality hallmark (90%) HP:0010767
5 bone cyst hallmark (90%) HP:0012062
6 skin ulcer hallmark (90%) HP:0200042
7 polycystic ovaries typical (50%) HP:0000147
8 macrocephaly typical (50%) HP:0000256
9 wide nasal bridge typical (50%) HP:0000431
10 abnormality of the neck typical (50%) HP:0000464
11 palmoplantar keratoderma typical (50%) HP:0000982
12 brachydactyly syndrome typical (50%) HP:0001156
13 frontal bossing typical (50%) HP:0002007
14 scoliosis typical (50%) HP:0002650
15 spina bifida occulta typical (50%) HP:0003298
16 abnormal form of the vertebral bodies typical (50%) HP:0003312
17 intestinal polyposis typical (50%) HP:0200008
18 cryptorchidism occasional (7.5%) HP:0000028
19 tall stature occasional (7.5%) HP:0000098
20 renal cyst occasional (7.5%) HP:0000107
21 oral cleft occasional (7.5%) HP:0000202
22 hydrocephalus occasional (7.5%) HP:0000238
23 epicanthus occasional (7.5%) HP:0000286
24 mandibular prognathia occasional (7.5%) HP:0000303
25 hypertelorism occasional (7.5%) HP:0000316
26 conductive hearing impairment occasional (7.5%) HP:0000405
27 strabismus occasional (7.5%) HP:0000486
28 glaucoma occasional (7.5%) HP:0000501
29 visual impairment occasional (7.5%) HP:0000505
30 telecanthus occasional (7.5%) HP:0000506
31 cataract occasional (7.5%) HP:0000518
32 proptosis occasional (7.5%) HP:0000520
33 optic nerve coloboma occasional (7.5%) HP:0000588
34 iris coloboma occasional (7.5%) HP:0000612
35 nystagmus occasional (7.5%) HP:0000639
36 carious teeth occasional (7.5%) HP:0000670
37 abnormality of dental enamel occasional (7.5%) HP:0000682
38 gynecomastia occasional (7.5%) HP:0000771
39 abnormality of the ribs occasional (7.5%) HP:0000772
40 hand polydactyly occasional (7.5%) HP:0001161
41 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
42 arachnodactyly occasional (7.5%) HP:0001166
43 seizures occasional (7.5%) HP:0001250
44 chorea occasional (7.5%) HP:0002072
45 abnormality of the pleura occasional (7.5%) HP:0002103
46 meningioma occasional (7.5%) HP:0002858
47 medulloblastoma occasional (7.5%) HP:0002885
48 vertebral segmentation defect occasional (7.5%) HP:0003422
49 abnormality of the sense of smell occasional (7.5%) HP:0004408
50 abnormality of the carotid arteries occasional (7.5%) HP:0005344
51 finger syndactyly occasional (7.5%) HP:0006101
52 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
53 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
54 glioma occasional (7.5%) HP:0009733
55 sarcoma occasional (7.5%) HP:0100242
56 cognitive impairment occasional (7.5%) HP:0100543
57 neoplasm of the heart occasional (7.5%) HP:0100544
58 ovarian neoplasm occasional (7.5%) HP:0100615
59 bronchogenic cyst occasional (7.5%) HP:0100730
60 intellectual disability rare (5%) HP:0001249
61 autosomal dominant inheritance HP:0000006
62 cleft palate HP:0000175
63 cleft upper lip HP:0000204
64 hydrocephalus HP:0000238
65 parietal bossing HP:0000242
66 macrocephaly HP:0000256
67 coarse facial features HP:0000280
68 mandibular prognathia HP:0000303
69 hypertelorism HP:0000316
70 wide nasal bridge HP:0000431
71 strabismus HP:0000486
72 glaucoma HP:0000501
73 cataract HP:0000518
74 microphthalmos HP:0000568
75 iris coloboma HP:0000612
76 abnormality of the sternum HP:0000766
77 short ribs HP:0000773
78 bifid ribs HP:0000892
79 sprengel anomaly HP:0000912
80 milia HP:0001056
81 orbital cyst HP:0001144
82 motor delay HP:0001270
83 heterogeneous HP:0001425
84 frontal bossing HP:0002007
85 frontal bossing HP:0002007
86 spina bifida HP:0002414
87 scoliosis HP:0002650
88 basal cell carcinoma HP:0002671
89 kyphoscoliosis HP:0002751
90 medulloblastoma HP:0002885
91 hemivertebrae HP:0002937
92 vertebral fusion HP:0002948
93 variable expressivity HP:0003828
94 irregular ossification of hand bones HP:0004280
95 hamartomatous stomach polyps HP:0004795
96 bridged sella turcica HP:0005449
97 calcification of falx cerebri HP:0005462
98 supernumerary ribs HP:0005815
99 vertebral wedging HP:0008422
100 short distal phalanx of the thumb HP:0009650
101 cardiac rhabdomyoma HP:0009729
102 short 4th metacarpal HP:0010044
103 polydactyly HP:0010442
104 keratocystic odontogenic tumor HP:0010603
105 skin tags HP:0010609
106 palmar pits HP:0010610
107 plantar pits HP:0010612
108 cardiac fibroma HP:0010617
109 ovarian fibroma HP:0010618
110 down-sloping shoulders HP:0200021

Drugs & Therapeutics for Nevoid Basal Cell Carcinoma Syndrome

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Drug clinical trials:

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Genetic Tests for Nevoid Basal Cell Carcinoma Syndrome

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

32
Skin, Bone, Ovary, Eye, Heart, Testes, Breast, Colon, Kidney, Olfactory bulb, Tongue, Brain, Lung, Thyroid, Uterus, Trachea

Animal Models for Nevoid Basal Cell Carcinoma Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Nevoid Basal Cell Carcinoma Syndrome:

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

Publications for Nevoid Basal Cell Carcinoma Syndrome

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Articles related to Nevoid Basal Cell Carcinoma Syndrome:

(show top 50)    (show all 292)
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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UniProtKB/Swiss-Prot genetic disease variations for Nevoid Basal Cell Carcinoma Syndrome:

64
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:

6 (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 variantPathogenicrs199476092GRCh37Chr 9, 98229479: 98229479
13PTCH1NM_000264.3(PTCH1): c.3155C> T (p.Thr1052Met)single nucleotide variantPathogenicrs138911275GRCh37Chr 9, 98220308: 98220308
14PTCH1PTCH1, 1-BP INS, 1247TinsertionPathogenic

Expression for genes affiliated with Nevoid Basal Cell Carcinoma Syndrome

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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

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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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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:0081589.5PTCH1, PTCH2
4protein bindingGO:0055156.9SUFU, MC1R, HPSE, ROR2, XPA, GAS1

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet