MCID: BSL036
MIFTS: 55

Basal Cell Nevus Syndrome malady

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

Aliases & Classifications for Basal Cell Nevus Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 38NCIt, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Basal Cell Nevus Syndrome, Aliases & Descriptions:

Name: Basal Cell Nevus Syndrome 45 9 10 19 41 21 47 60
Nevoid Basal Cell Carcinoma Syndrome 9 19 41 20 21 11 43 47
Gorlin Syndrome 9 19 41 21 47 22
Nbccs 19 41 21 47
Gorlin-Goltz Syndrome 41 21
 
Bcns 19 21
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies 41
Naevoid Basal Cell Carcinoma Syndrome 9
Fifth Phacomatosis 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
nevoid basal cell carcinoma syndrome:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy


External Ids:

OMIM45 109400
Disease Ontology9 DOID:2512
NCIt38 C2892
Orphanet47 377
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C0004779

Summaries for Basal Cell Nevus Syndrome

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NIH Rare Diseases:41 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: Basal Cell Nevus Syndrome, also known as nevoid basal cell carcinoma syndrome, is related to basal cell carcinoma and brachydactyly, and has symptoms including melanocytic nevus, osteolysis and neoplasm of the skin. An important gene associated with Basal Cell Nevus Syndrome is PTCH1 (patched 1), and among its related pathways are Hedgehog signaling events mediated by Gli proteins and Signaling events mediated by the Hedgehog family. Affiliated tissues include skin, bone and ovary, and related mouse phenotypes are pigmentation and craniofacial.

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:45 109400

GeneReviews summary for bcns

Related Diseases for Basal Cell Nevus Syndrome

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Diseases related to Basal Cell Nevus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1basal cell carcinoma30.7SUFU, PTCH1
2brachydactyly30.3ROR2, PTCH1
3basal cell carcinoma, somatic30.2PTCH1, PTCH2
4medulloblastoma30.1PTCH1, PTCH2, SUFU
5meier-gorlin syndrome 110.7
6fibroma10.7
7ovarian fibroma10.6
8focal dermal hypoplasia10.6
9hypertelorism, microtia, facial clefting syndrome10.5
10lopes gorlin syndrome10.5
11breast cancer10.5
12fibrosarcoma10.5
13leiomyosarcoma10.5
14meier-gorlin syndrome 310.5
15meier-gorlin syndrome 210.4
16meier-gorlin syndrome 410.4
17meier-gorlin syndrome 510.4
18dysplastic nevus syndrome10.4
19acrokeratosis verruciformis10.4
20adenomatous polyposis coli10.4
21deficiency anemia10.4
22west syndrome10.4
23spondylolisthesis10.4
24benign mesenchymoma10.4
25neurofibromatosis10.4
26neuronitis10.4
27cleft lip10.4
28iron deficiency anemia10.4
29testicular thecoma10.4
30situs inversus10.4
31von willebrand's disease10.4
32superficial basal cell carcinoma10.4
33folliculitis10.4
34empty sella syndrome10.4
35childhood medulloblastoma10.4
36cervicitis10.4
37mediastinitis10.4
38melanoma10.4
39mesenchymoma10.4
40papilledema10.4
41thyroiditis10.4
42urticaria10.4
43eosinophilic pustular folliculitis10.4
44familial breast cancer10.4
45lymphomatoid papulosis10.4
46odontogenic myxoma10.4
47teratoma10.4
48generalized basaloid follicular hamartoma syndrome10.4
49medulloblastoma with extensive nodularity10.4
50unilateral renal agenesis10.4

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



Diseases related to basal cell nevus syndrome

Symptoms for Basal Cell Nevus Syndrome

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Symptoms by clinical synopsis from OMIM:

109400

Clinical features from OMIM:

109400

Symptoms:

 47 (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 Basal Cell Nevus Syndrome:

(show all 109)
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 spina bifida HP:0002414
86 scoliosis HP:0002650
87 basal cell carcinoma HP:0002671
88 kyphoscoliosis HP:0002751
89 medulloblastoma HP:0002885
90 hemivertebrae HP:0002937
91 vertebral fusion HP:0002948
92 variable expressivity HP:0003828
93 irregular ossification of hand bones HP:0004280
94 hamartomatous stomach polyps HP:0004795
95 bridged sella turcica HP:0005449
96 calcification of falx cerebri HP:0005462
97 supernumerary ribs HP:0005815
98 vertebral wedging HP:0008422
99 short distal phalanx of the thumb HP:0009650
100 cardiac rhabdomyoma HP:0009729
101 short 4th metacarpal HP:0010044
102 polydactyly HP:0010442
103 keratocystic odontogenic tumor HP:0010603
104 skin tags HP:0010609
105 palmar pits HP:0010610
106 plantar pits HP:0010612
107 cardiac fibroma HP:0010617
108 ovarian fibroma HP:0010618
109 down-sloping shoulders HP:0200021

Drugs & Therapeutics for Basal Cell Nevus Syndrome

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Drug clinical trials:

Search ClinicalTrials for Basal Cell Nevus Syndrome

Search NIH Clinical Center for Basal Cell Nevus Syndrome

Genetic Tests for Basal Cell Nevus Syndrome

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Genetic tests related to Basal Cell Nevus Syndrome:

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

Anatomical Context for Basal Cell Nevus Syndrome

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MalaCards organs/tissues related to Basal Cell Nevus Syndrome:

31
Skin, Bone, Ovary, Eye, Heart, Testes, Colon, Kidney, Breast, Olfactory bulb, Tongue

Animal Models for Basal Cell Nevus Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Basal Cell Nevus Syndrome:

35 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3SUFU, PTCH1
2MP:00053829.0PTCH1, SUFU, ROR2
3MP:00053908.9ROR2, SUFU, PTCH1
4MP:00053808.8PTCH1, SUFU, ROR2
5MP:00020068.7SUFU, PTCH1, PTCH2
6MP:00107718.6SUFU, PTCH1, PTCH2
7MP:00028738.4SUFU, PTCH1, PTCH2
8MP:00053898.3ROR2, PTCH1, PTCH2
9MP:00053818.2ROR2, SUFU, PTCH1, PTCH2
10MP:00053858.2PTCH2, PTCH1, SUFU, ROR2
11MP:00036318.2PTCH2, PTCH1, SUFU, ROR2

Publications for Basal Cell Nevus Syndrome

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Articles related to Basal Cell Nevus Syndrome:

(show all 30)
idTitleAuthorsYear
1
Comment on basal cell carcinoma rebound after cessation of vismodegib in an individual with basal cell nevus syndrome. (23682843)
2013
2
The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects. (23897749)
2013
3
Retraction: Basal cell nevus syndrome showing several histologic types of basal cell carcinoma. (22577287)
2012
4
Conjunctival ganglioglioma as a feature of basal cell nevus syndrome. (21907124)
2011
5
A novel phenotype with features of basal cell nevus syndrome and basaloid follicular hamartoma syndrome. (21679799)
2011
6
Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome. (20489535)
2010
7
Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. (19557015)
2009
8
Recurrent petrous apex cholesteatoma in a patient with basal cell nevus syndrome. (18722240)
2008
9
Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. (17021131)
2006
10
Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree. (16733713)
2006
11
Review of patients with basal cell nevus syndrome. (16855496)
2006
12
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. (15690381)
2005
13
Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome. (16227103)
2005
14
Basal cell nevus syndrome. (15725922)
2005
15
A plea for the analysis of Vitamin-D levels in patients under photoprotection, including patients with xeroderma pigmentosum (XP) and basal cell nevus syndrome (BCNS). (15088627)
2004
16
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. (12548386)
2003
17
Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome. (11896785)
2002
18
Novel mutations in the PATCHED gene in basal cell nevus syndrome. (12175781)
2002
19
A mouse model for medulloblastoma and basal cell nevus syndrome. (11718263)
2001
20
A novel polymorphism in the PTC gene allows easy identification of allelic loss in basal cell nevus syndrome lesions. (11277394)
2001
21
Allelic loss at the PTCH gene locus in jaw cysts but not in palmar pits in patients with basal cell nevus syndrome. (11000293)
2000
22
Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. (9620294)
1998
23
Repair of directly and indirectly UV-induced DNA lesions and of DNA double-strand breaks in cells from skin cancer-prone patients with the disorders dysplastic nevus syndrome or basal cell nevus syndrome. (8912431)
1997
24
The occurrence of endometrial adenocarcinoma in a patient with basal cell nevus syndrome. (9264223)
1997
25
Human homolog of patched, a candidate gene for the basal cell nevus syndrome. (8658145)
1996
26
Basal cell nevus syndrome and dysplastic nevus syndrome: investigation of gene expression by differential hybridization. (8818188)
1996
27
Basal cell nevus syndrome and medulloblastoma: a case report. (8060441)
1993
28
Hypersensitivity of skin fibroblasts from basal cell nevus syndrome patients to killing by ultraviolet B but not by ultraviolet C radiation. (2297704)
1990
29
Nevoid basal cell carcinoma syndrome. A review and case report of a patient with unilateral basal cell nevus syndrome. (3537024)
1986
30
Concurrence of features of pseudohypoparathyroidism, pseudopseudohypoparathyroidism and basal-cell nevus syndrome. (5480625)
1970

Variations for Basal Cell Nevus Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Basal Cell Nevus 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

Clinvar genetic disease variations for Basal Cell Nevus Syndrome:

6 (show all 14)
id Gene Variation 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

Cosmic variations for Basal Cell Nevus Syndrome:

7 (show all 75)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
144310TP53skin,NS,carcinoma,basal cell carcinoma3
244925TP53skin,NS,carcinoma,basal cell carcinoma3
343842TP53skin,NS,carcinoma,basal cell carcinoma3
410660TP53skin,NS,carcinoma,basal cell carcinoma3
510704TP53skin,NS,carcinoma,basal cell carcinoma3
644167TP53skin,NS,carcinoma,basal cell carcinoma3
743665TP53skin,NS,carcinoma,basal cell carcinoma3
844071TP53skin,NS,carcinoma,basal cell carcinoma3
943702TP53skin,NS,carcinoma,basal cell carcinoma3
1010771TP53skin,NS,carcinoma,basal cell carcinoma3
1145015TP53skin,NS,carcinoma,basal cell carcinoma3
1245740TP53skin,NS,carcinoma,basal cell carcinoma3
1310648TP53skin,NS,carcinoma,basal cell carcinoma3
1444074TP53skin,NS,carcinoma,basal cell carcinoma3
1544096TP53skin,NS,carcinoma,basal cell carcinoma3
1644606TP53skin,NS,carcinoma,basal cell carcinoma3
1743608TP53skin,NS,carcinoma,basal cell carcinoma3
1843583TP53skin,eye,carcinoma,basal cell carcinoma3
1943616TP53skin,NS,carcinoma,basal cell carcinoma3
2043700TP53skin,NS,carcinoma,basal cell carcinoma3
2143585TP53skin,NS,carcinoma,basal cell carcinoma3
2243592TP53skin,NS,carcinoma,basal cell carcinoma3
2343635TP53skin,NS,carcinoma,basal cell carcinoma3
2443577TP53skin,NS,carcinoma,basal cell carcinoma3
2510812TP53skin,NS,carcinoma,basal cell carcinoma3
2645420TP53skin,NS,carcinoma,basal cell carcinoma3
2710656TP53skin,NS,carcinoma,basal cell carcinoma3
2844126TP53skin,eye,carcinoma,basal cell carcinoma3
2944226TP53skin,NS,carcinoma,basal cell carcinoma3
3010768TP53skin,NS,carcinoma,basal cell carcinoma3
3144603TP53skin,NS,carcinoma,basal cell carcinoma3
326932TP53skin,NS,carcinoma,basal cell carcinoma3
3343582TP53skin,NS,carcinoma,basal cell carcinoma3
3410659TP53skin,NS,carcinoma,basal cell carcinoma3
3543584TP53skin,NS,carcinoma,basal cell carcinoma3
3645739TP53skin,NS,carcinoma,basal cell carcinoma3
3743581TP53skin,NS,carcinoma,basal cell carcinoma3
3845423TP53skin,NS,carcinoma,basal cell carcinoma3
3944097TP53skin,NS,carcinoma,basal cell carcinoma3
4010988TP53skin,NS,carcinoma,basal cell carcinoma3
4144068TP53skin,NS,carcinoma,basal cell carcinoma3
426549TP53skin,NS,carcinoma,basal cell carcinoma3
4310749TP53skin,NS,carcinoma,basal cell carcinoma3
4445424TP53skin,NS,carcinoma,basal cell carcinoma3
4510662TP53skin,NS,carcinoma,basal cell carcinoma3
4610794TP53skin,NS,carcinoma,basal cell carcinoma3
4743837TP53skin,NS,carcinoma,basal cell carcinoma3
4810650TP53skin,NS,carcinoma,basal cell carcinoma3
4910867TP53skin,NS,carcinoma,basal cell carcinoma3
5096963PTCH1skin,NS,carcinoma,basal cell carcinoma3
5117602PTCH1skin,hand,carcinoma,basal cell carcinoma3
5224851PTCH1skin,NS,carcinoma,basal cell carcinoma3
5317547PTCH1skin,NS,carcinoma,basal cell carcinoma3
5417454PTCH1skin,NS,carcinoma,basal cell carcinoma3
5517434PTCH1skin,NS,carcinoma,basal cell carcinoma3
5617596PTCH1skin,hand,carcinoma,basal cell carcinoma3
5729348PTCH1skin,NS,carcinoma,basal cell carcinoma3
5829349PTCH1skin,NS,carcinoma,basal cell carcinoma3
5917481PTCH1skin,NS,carcinoma,basal cell carcinoma3
6096960PTCH1skin,NS,carcinoma,basal cell carcinoma3
6196959PTCH1skin,NS,carcinoma,basal cell carcinoma3
6226361PTCH1skin,NS,carcinoma,basal cell carcinoma3
6396957PTCH1skin,NS,carcinoma,basal cell carcinoma3
6496958PTCH1skin,NS,carcinoma,basal cell carcinoma3
6517592PTCH1skin,NS,carcinoma,basal cell carcinoma3
6626365PTCH1skin,NS,carcinoma,basal cell carcinoma3
671651688PTCH1skin,NS,carcinoma,basal cell carcinoma3
6826372PTCH1skin,NS,carcinoma,basal cell carcinoma3
69483HRASskin,NS,carcinoma,basal cell carcinoma3
70490HRASskin,NS,carcinoma,basal cell carcinoma3
71486HRASskin,NS,carcinoma,basal cell carcinoma3
7212476CDKN2Askin,NS,carcinoma,basal cell carcinoma3
735662CTNNB1skin,NS,carcinoma,basal cell carcinoma3
74553KRASskin,NS,carcinoma,basal cell carcinoma3
7513146SMOskin,NS,carcinoma,basal cell carcinoma3

Expression for genes affiliated with Basal Cell Nevus Syndrome

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Search GEO for disease gene expression data for Basal Cell Nevus Syndrome.

Pathways for genes affiliated with Basal Cell Nevus Syndrome

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Pathways related to Basal Cell Nevus Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PTCH1, SUFU
29.1PTCH1, PTCH2
3
Show member pathways
9.1PTCH2, PTCH1
4
Show member pathways
9.0SUFU, PTCH2
5
Show member pathways
8.6ROR2, PTCH1, PTCH2
6
Show member pathways
8.5SUFU, PTCH1, PTCH2
7
Show member pathways
8.5PTCH2, PTCH1, SUFU
88.5SUFU, PTCH1, PTCH2
98.5SUFU, PTCH1, PTCH2
10
Show member pathways
8.5ROR2, SUFU, PTCH2
11
Show member pathways
8.5ROR2, SUFU, PTCH2

Compounds for genes affiliated with Basal Cell Nevus Syndrome

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GO Terms for genes affiliated with Basal Cell Nevus Syndrome

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Cellular components related to Basal Cell Nevus Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1primary ciliumGO:00723729.3SUFU, PTCH1

Biological processes related to Basal Cell Nevus Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of osteoblast differentiationGO:00456689.4SUFU, PTCH1
2negative regulation of sequence-specific DNA binding transcription factor activityGO:00434339.4SUFU, PTCH1
3neural tube closureGO:00018439.3PTCH1, SUFU
4multicellular organismal developmentGO:00072759.3ROR2, SUFU
5epidermis developmentGO:00085449.0PTCH1, PTCH2
6negative regulation of smoothened signaling pathwayGO:00458798.7SUFU, PTCH1, PTCH2
7signal transductionGO:00071658.2ROR2, SUFU, PTCH2

Molecular functions related to Basal Cell Nevus Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hedgehog receptor activityGO:00081589.1PTCH1, PTCH2
2smoothened bindingGO:00051199.0PTCH1, PTCH2
3hedgehog family protein bindingGO:00971088.8PTCH1, PTCH2

Products for genes affiliated with Basal Cell Nevus Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Basal Cell Nevus Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet