BCNS
MCID: BSL036
MIFTS: 65

Basal Cell Nevus Syndrome (BCNS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Bone diseases, Cancer diseases

Aliases & Classifications for Basal Cell Nevus Syndrome

Aliases & Descriptions for Basal Cell Nevus Syndrome:

Name: Basal Cell Nevus Syndrome 54 12 23 50 24 25 56 66 13 42 69
Nevoid Basal Cell Carcinoma Syndrome 12 23 50 24 25 56 52 14
Gorlin Syndrome 12 23 50 24 25 56 29
Nbccs 23 24 25 56
Gorlin-Goltz Syndrome 50 25 56
Bcns 23 25 66
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies 50
Gorlin Syndrome or Gorlin-Goltz Syndrome 66
Nevoid Basal Cell Cancer Syndrome 24

Characteristics:

Orphanet epidemiological data:

56
gorlin syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

GeneReviews:

23
basal cell nevus syndrome:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity


GeneReviews:

23
Penetrance Although nbccs shows intra- and interfamilial variation in expression, experience clinically and from molecular testing is compatible with complete penetrance [author, personal observation]. a previous report of reduced penetrance in a family with medulloblastoma based on ptch1 linkage analysis was refuted when the family was shown to have an sufu pathogenic variant. [smith et al 2014]. the penetrance of sufu pathogenic variants is more difficult to determine, but is likely to be reduced...

Classifications:



External Ids:

OMIM 54 109400
Disease Ontology 12 DOID:2512
MeSH 42 D001478
NCIt 47 C2892
Orphanet 56 ORPHA377
UMLS via Orphanet 70 C0004779
ICD10 via Orphanet 34 Q87.8
MedGen 40 C0004779
UMLS 69 C0004779

Summaries for Basal Cell Nevus Syndrome

NIH Rare Diseases : 50 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 1 and meier-gorlin syndrome 1, and has symptoms including hypertelorism, frontal bossing and hydrocephalus. An important gene associated with Basal Cell Nevus Syndrome is PTCH1 (Patched 1), and among its related pathways/superpathways are Signaling by GPCR and Activation of cAMP-Dependent PKA. The drugs Verteporfin and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are digestive/alimentary and embryo

Genetics Home Reference : 25 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.

UniProtKB/Swiss-Prot : 66 Basal cell nevus syndrome: An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas.

Wikipedia : 71 Nevoid basal-cell carcinoma syndrome (NBCCS), also known as basal-cell nevus syndrome, multiple... more...

Description from OMIM: 109400
GeneReviews: NBK1151

Related Diseases for Basal Cell Nevus Syndrome

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

(show top 50) (show all 58)
id Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 1 31.7 PTCH1 PTCH2 SMO
2 meier-gorlin syndrome 1 12.2
3 meier-gorlin syndrome 3 12.2
4 meier-gorlin syndrome 2 12.1
5 meier-gorlin syndrome 4 12.1
6 meier-gorlin syndrome 5 12.1
7 meier-gorlin syndrome 6 12.1
8 lopes gorlin syndrome 11.8
9 focal dermal hypoplasia 11.5
10 hypertelorism, microtia, facial clefting syndrome 11.1
11 basal cell carcinoma 10.3
12 mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor 10.3 PTCH2 SUFU
13 horseshoe kidney 10.2 GLI2 PTCH1
14 camptomelic syndrome long limb type 10.2 GLI2 PTCH1
15 colonic pseudo-obstruction 10.2 GLI2 PTCH1 SUFU
16 colorectal cancer, hereditary nonpolyposis, type 2 10.2 GLI2 PTCH1 SHH
17 eosinophilic gastroenteritis 10.2 PORCN PTCH1
18 clear cell meningioma 10.2 PTCH1 SUFU
19 thoracic outlet syndrome 10.1 PTCH1 SHH SUFU
20 dysautonomia, familial 10.1 GLI1 GLI2 SHH
21 childhood central nervous system primitive neuroectodermal neoplasm 10.1 GLI1 PTCH1 SHH SUFU
22 intestinal pseudo-obstruction 10.1 GLI1 GLI2 PTCH1 SUFU
23 primary oculocerebral lymphoma 10.1 GAS1 GLI2 PTCH1 SHH
24 late-onset nephronophthisis 10.1 GAS1 GLI2 PTCH1 SHH
25 antenatal bartter syndrome 10.1 GAS1 GLI2 PTCH1 SHH
26 familial infantile bilateral striatal necrosis 10.1 GAS1 GLI2 PTCH1 SHH
27 atypical hemolytic-uremic syndrome with h factor anomaly 10.1 GAS1 GLI2 PTCH1 SHH
28 glaucoma 1, open angle, f 10.1 GAS1 GLI2 PTCH1 SHH
29 hypoplastic left heart syndrome 10.1 GAS1 GLI2 PTCH1 SHH
30 anal margin basal cell carcinoma 10.1 PTCH1 SUFU
31 alpha chain disease 10.1 GLI1 GLI2 PTCH1 SHH
32 statin toxicity 10.0 GLI1 PTCH1 SHH SMO SUFU
33 anosmia, isolated congenital 10.0 GLI3 SHH
34 medulloblastoma 10.0
35 tricho odonto onychodysplasia syndactyly dominant type 9.9 GLI3 SHH
36 adrenal cortical hypofunction 9.9 GLI2 GLI3 SHH
37 polydactyly, preaxial, type iv 9.9 GLI2 GLI3 KIF7
38 dysplastic nevus syndrome 9.9
39 horner's syndrome 9.8 GLI2 GLI3 SHH
40 intellectual developmental disorder with persistence of fetal hemoglobin 9.7 GLI2 GLI3 KIF7 TGFBR1
41 craniosynostosis 9.7
42 brachydactyly 9.7
43 inflammatory bowel disease 9.7
44 squamous cell carcinoma 9.7
45 endometrial adenocarcinoma 9.7
46 adenocarcinoma 9.7
47 pseudohypoparathyroidism 9.7
48 infundibulocystic basal cell carcinoma 9.7
49 ganglioglioma 9.7
50 cholesteatoma 9.7

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



Diseases related to Basal Cell Nevus Syndrome

Symptoms & Phenotypes for Basal Cell Nevus Syndrome

Symptoms by clinical synopsis from OMIM:

109400

Clinical features from OMIM:

109400

Human phenotypes related to Basal Cell Nevus Syndrome:

56 32 (show top 50) (show all 60)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Occasional (29-5%) HP:0000316
2 frontal bossing 56 32 Occasional (29-5%) HP:0002007
3 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
4 intellectual disability 56 32 Occasional (29-5%) HP:0001249
5 cerebral calcification 56 32 Very frequent (99-80%) HP:0002514
6 scoliosis 56 32 Frequent (79-30%) HP:0002650
7 mandibular prognathia 56 32 Occasional (29-5%) HP:0000303
8 cataract 56 32 Occasional (29-5%) HP:0000518
9 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
10 carious teeth 56 32 Occasional (29-5%) HP:0000670
11 brachycephaly 56 32 Occasional (29-5%) HP:0000248
12 neoplasm 56 32 Very frequent (99-80%) HP:0002664
13 strabismus 56 32 Occasional (29-5%) HP:0000486
14 epicanthus 56 32 Occasional (29-5%) HP:0000286
15 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
16 melanocytic nevus 56 32 Very frequent (99-80%) HP:0000995
17 hypogonadotrophic hypogonadism 56 32 Occasional (29-5%) HP:0000044
18 telecanthus 56 32 Occasional (29-5%) HP:0000506
19 glaucoma 56 32 Occasional (29-5%) HP:0000501
20 arachnodactyly 56 32 Occasional (29-5%) HP:0001166
21 brachydactyly syndrome 56 32 Frequent (79-30%) HP:0001156
22 abnormality of the neck 56 32 Frequent (79-30%) HP:0000464
23 iris coloboma 56 32 Occasional (29-5%) HP:0000612
24 hemivertebrae 56 32 Occasional (29-5%) HP:0002937
25 vertebral fusion 56 32 Frequent (79-30%) HP:0002948
26 abnormality of the sense of smell 56 32 Occasional (29-5%) HP:0004408
27 vertebral wedging 56 32 Frequent (79-30%) HP:0008422
28 palmar pits 56 32 Very frequent (99-80%) HP:0010610
29 plantar pits 56 32 Very frequent (99-80%) HP:0010612
30 macrocephaly 32 HP:0000256
31 coarse facial features 32 HP:0000280
32 cleft palate 32 HP:0000175
33 short 4th metacarpal 32 HP:0010044
34 sprengel anomaly 32 HP:0000912
35 microphthalmia 32 HP:0000568
36 spina bifida 32 HP:0002414
37 down-sloping shoulders 32 HP:0200021
38 cleft upper lip 32 HP:0000204
39 bifid ribs 32 HP:0000892
40 supernumerary ribs 32 HP:0005815
41 abnormality of the sternum 32 HP:0000766
42 motor delay 32 HP:0001270
43 kyphoscoliosis 32 HP:0002751
44 cardiac rhabdomyoma 32 HP:0009729
45 skin tags 32 HP:0010609
46 medulloblastoma 32 HP:0002885
47 short distal phalanx of the thumb 32 HP:0009650
48 short ribs 32 HP:0000773
49 milia 32 HP:0001056
50 basal cell carcinoma 32 HP:0002671

MGI Mouse Phenotypes related to Basal Cell Nevus Syndrome:

44 (show all 21)
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.35 GLI1 GLI2 GLI3 KIF7 PORCN PTCH1
2 embryo MP:0005380 10.35 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
3 cellular MP:0005384 10.33 FANCC GAS1 GLI1 GLI2 GLI3 KIF7
4 growth/size/body region MP:0005378 10.33 GLI1 GLI2 GLI3 KIF7 PORCN PTCH1
5 craniofacial MP:0005382 10.32 PORCN PTCH1 ROR2 SHH SMO SUFU
6 cardiovascular system MP:0005385 10.3 ROR2 SHH SMO SUFU TGFBR1 GAS1
7 homeostasis/metabolism MP:0005376 10.3 HOGA1 KIF7 PTCH1 ROR2 SHH SMO
8 mortality/aging MP:0010768 10.26 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
9 limbs/digits/tail MP:0005371 10.24 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
10 nervous system MP:0003631 10.22 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
11 endocrine/exocrine gland MP:0005379 10.21 FANCC GLI1 GLI2 GLI3 PORCN PTCH1
12 integument MP:0010771 10.11 GLI3 PORCN PTCH1 PTCH2 SHH SUFU
13 normal MP:0002873 10.02 GLI3 PORCN PTCH1 PTCH2 SHH SMO
14 hearing/vestibular/ear MP:0005377 10.01 GAS1 GLI2 GLI3 ROR2 SHH SMO
15 muscle MP:0005369 10 GLI2 KIF7 PTCH1 PTCH2 SHH SMO
16 reproductive system MP:0005389 9.96 FANCC GLI1 GLI2 GLI3 KIF7 PORCN
17 neoplasm MP:0002006 9.91 GLI1 PTCH1 PTCH2 SHH SUFU TGFBR1
18 no phenotypic analysis MP:0003012 9.91 GLI1 GLI2 GLI3 KIF7 PTCH1 SHH
19 respiratory system MP:0005388 9.9 GAS1 GLI1 GLI2 GLI3 KIF7 PTCH1
20 skeleton MP:0005390 9.73 FANCC GAS1 GLI2 GLI3 KIF7 PORCN
21 vision/eye MP:0005391 9.28 GAS1 GLI2 GLI3 KIF7 PTCH1 ROR2

Drugs & Therapeutics for Basal Cell Nevus Syndrome

Drugs for Basal Cell Nevus Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 52)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verteporfin Approved, Investigational Phase 3 129497-78-5
2 Dermatologic Agents Phase 3,Phase 2
3 Photosensitizing Agents Phase 3,Phase 2
4
Tazarotene Approved, Investigational Phase 2 118292-40-3 5381
5
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
6
Aminolevulinic acid Approved Phase 2 106-60-5 137
7
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
8
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
9
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
11
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
12
Nicotinamide Approved, Nutraceutical Phase 2 98-92-0 936
13 Keratolytic Agents Phase 2
14 Micronutrients Phase 2
15 Nicotinic Acids Phase 2
16 Trace Elements Phase 2
17 Vitamin B Complex Phase 2
18 Vitamins Phase 2
19 Analgesics Phase 2
20 Analgesics, Non-Narcotic Phase 2
21 Anti-Inflammatory Agents Phase 2
22 Anti-Inflammatory Agents, Non-Steroidal Phase 2
23 Antirheumatic Agents Phase 2
24 Cyclooxygenase 2 Inhibitors Phase 2
25 Cyclooxygenase Inhibitors Phase 2
26 Peripheral Nervous System Agents Phase 2
27 Pharmaceutical Solutions Phase 2
28 Antifungal Agents Phase 2,Phase 1
29 Anti-Infective Agents Phase 2,Phase 1
30 Cytochrome P-450 CYP3A Inhibitors Phase 2
31 Cytochrome P-450 Enzyme Inhibitors Phase 2
32 Hormone Antagonists Phase 2
33 Hormones Phase 2
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
35 Hydroxyitraconazole Phase 2
36 Steroid Synthesis Inhibitors Phase 2
37 Interferon-gamma Phase 1, Phase 2
38 interferons Phase 1, Phase 2
39 Folate Nutraceutical Phase 2
40 Vitamin B3 Nutraceutical Phase 2
41 Vitamin B9 Nutraceutical Phase 2
42
Everolimus Approved Phase 1 159351-69-6 6442177
43
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
44 Anti-Bacterial Agents Phase 1
45 Antibiotics, Antitubercular Phase 1
46 Immunosuppressive Agents Phase 1
47
Acitretin Approved 55079-83-9 6437841 5284513
48
Isotretinoin Approved 4759-48-2 5538 5282379
49 Protective Agents
50 Radiation-Protective Agents

Interventional clinical trials:

(show all 30)
id Name Status NCT ID Phase
1 Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin. Terminated NCT00049959 Phase 3
2 Efficacy, Safety and Tolerability of Topically Applied LDE225 Cream (Hedgehog Pathway Inhibitor) in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Withdrawn NCT03070691 Phase 2, Phase 3
3 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Chest and Back Completed NCT00783965 Phase 2
4 Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas (BCC) in Gorlin Syndrome Patients Completed NCT02762084 Phase 2
5 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Face Completed NCT00489086 Phase 2
6 To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2
7 Celecoxib in Preventing Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Completed NCT00023621 Phase 2
8 Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2
9 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2
10 Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Completed NCT01350115 Phase 2
11 Open-label Trial of SUBA™-Itraconazole (SUBA-Cap) in Subjects With Basal Cell Carcinoma Nevus Syndrome (BCCNS) Recruiting NCT02354261 Phase 2
12 A Study of the Efficacy and Safety of ASN-002 in Adult Patients With Low-risk Nodular Basal Cell Carcinoma Recruiting NCT02550678 Phase 1, Phase 2
13 Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the Size of Sporadic Nodular Basal Cell Carcinomas Recruiting NCT02828111 Phase 2
14 Photodynamic Therapy Using Blue Light or Red Light in Treating Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Active, not recruiting NCT02258243 Phase 2
15 A Study of Two Vismodegib Regimens in Participants With Multiple Basal Cell Carcinomas Active, not recruiting NCT01815840 Phase 2
16 Topical Sirolimus in Patients With Basal Cell Nevus Syndrome and in Healthy Participants Completed NCT00433485 Phase 1
17 Development of a Nanosecond Pulsed Electric Field System to Treat Skin Cancer Completed NCT01463709 Phase 1
18 A Phase 1 Study of BMS-833923 (XL139) in Subjects With Advanced or Metastatic Cancer Completed NCT00670189 Phase 1
19 Photodynamic Therapy and Vismodegib for Multiple Basal Cell Carcinomas Recruiting NCT02639117 Phase 1
20 Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus Syndrome Completed NCT02157623
21 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
22 The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases Completed NCT00005660
23 Isotretinoin in Preventing Skin Cancer Completed NCT00025012
24 Levocarnitine in Treating Patients With Vismodegib-Associated Muscle Spasms Completed NCT01893892
25 A Clinical Trial of Dermacorder for Detecting Malignant Skin Lesions Completed NCT01014819
26 An Observational Study of the Effectiveness and Safety of Erivedge® in Patients With Advanced Basal Cell Carcinoma Recruiting NCT02371967
27 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
28 Study of BMS-833923 in Two Specific Patients With Basal Cell Nevus Syndrome Active, not recruiting NCT02100371
29 Sonidegib and Buparlisib in Treating Patients With Advanced or Metastatic Basal Cell Carcinoma Active, not recruiting NCT02303041
30 An Observational Study of Treatment Patterns and Effectiveness and Safety Outcomes in Advanced Basal Cell Carcinoma and Basal Cell Carcinoma Nevus Syndrome Patients(RegiSONIC) Active, not recruiting NCT01604252

Search NIH Clinical Center for Basal Cell Nevus Syndrome

Cochrane evidence based reviews: basal cell nevus syndrome

Genetic Tests for Basal Cell Nevus Syndrome

Genetic tests related to Basal Cell Nevus Syndrome:

id Genetic test Affiliating Genes
1 Gorlin Syndrome 29
2 Nevoid Basal Cell Carcinoma Syndrome 24 PTCH1 SUFU

Anatomical Context for Basal Cell Nevus Syndrome

MalaCards organs/tissues related to Basal Cell Nevus Syndrome:

39
Skin, Bone, Heart, Ovary, Eye, Testes

Publications for Basal Cell Nevus Syndrome

Articles related to Basal Cell Nevus Syndrome:

(show top 50) (show all 53)
id Title Authors Year
1
Hedgehog pathway inhibitor therapy in basal-cell nevus syndrome. ( 27838223 )
2016
2
Risk Factors for Basal Cell Carcinoma Among Patients With Basal Cell Nevus Syndrome: Development of a Basal Cell Nevus Syndrome Patient Registry. ( 27902821 )
2016
3
AKT1 Activation is Obligatory for Spontaneous BCC Tumor Growth in a Murine Model That Mimics Some Features of Basal Cell Nevus Syndrome. ( 27388747 )
2016
4
Inhibition of the hedgehog pathway in patients with basal-cell nevus syndrome: final results from the multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. ( 27838224 )
2016
5
BASAL CELL NEVUS SYNDROME PRESENTING AS EPIRETINAL MEMBRANE AND MYELINATED NERVE FIBER LAYER. ( 27533646 )
2016
6
Segmental Basal cell nevus syndrome caused by an activating mutation in Smoothened. ( 26822128 )
2016
7
Basal cell nevus syndrome: clinical and molecular review and case report. ( 26356331 )
2015
8
Basal cell nevus syndrome or Gorlin syndrome. ( 26564075 )
2015
9
Dermoscopy for Identification of Basal Cell Carcinomas in Basal Cell Nevus Syndrome During Carbon Dioxide Laser Surgery. ( 26572667 )
2015
10
Hedgehog Pathway Inhibition for Locally Advanced Periocular Basal Cell Carcinoma and Basal Cell Nevus Syndrome. ( 25935097 )
2015
11
Intermittent Vismodegib Therapy in Basal Cell Nevus Syndrome. ( 26509945 )
2015
12
Basal Cell Nevus Syndrome: An Update on Genetics and Treatment. ( 26409035 )
2015
13
Tazarotene: randomized, double-blind, vehicle-controlled, and open-label concurrent trials for basal cell carcinoma prevention and therapy in patients with basal cell nevus syndrome. ( 24441673 )
2014
14
Squamous cell carcinoma of the maxilla in a patient with basal cell nevus syndrome. ( 24621716 )
2014
15
Sonic hedgehog signaling in Basal cell nevus syndrome. ( 25172843 )
2014
16
The use of vismodegib to shrink keratocystic odontogenic tumors in patients with basal cell nevus syndrome. ( 24623282 )
2014
17
Axillary basal cell carcinoma in patients with Goltz-Gorlin syndrome: report of basal cell carcinoma in both axilla of a woman with basal cell nevus syndrome and literature review. ( 25148279 )
2014
18
"PTCH"-ing it together: a basal cell nevus syndrome review. ( 23725561 )
2013
19
Comment on basal cell carcinoma rebound after cessation of vismodegib in an individual with basal cell nevus syndrome. ( 23682843 )
2013
20
The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects. ( 23897749 )
2013
21
Meningeal calcification in basal cell nevus syndrome. ( 24287476 )
2013
22
Basal cell nevus syndrome: a rare entity. ( 22960843 )
2012
23
Retraction: Basal cell nevus syndrome showing several histologic types of basal cell carcinoma. ( 22577287 )
2012
24
Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome. ( 22670904 )
2012
25
Basal cell nevus syndrome showing several histologic types of Basal cell carcinoma. ( 22028568 )
2011
26
A novel phenotype with features of basal cell nevus syndrome and basaloid follicular hamartoma syndrome. ( 21679799 )
2011
27
Long-term safety, tolerability, and efficacy of vismodegib in two patients with metastatic basal cell carcinoma and basal cell nevus syndrome. ( 25386306 )
2011
28
Conjunctival ganglioglioma as a feature of basal cell nevus syndrome. ( 21907124 )
2011
29
Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome. ( 20489535 )
2010
30
Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. ( 19557015 )
2009
31
Recurrent petrous apex cholesteatoma in a patient with basal cell nevus syndrome. ( 18722240 )
2008
32
Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree. ( 16733713 )
2006
33
Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. ( 17021131 )
2006
34
Review of patients with basal cell nevus syndrome. ( 16855496 )
2006
35
Basal cell nevus syndrome. ( 15725922 )
2005
36
Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome. ( 16227103 )
2005
37
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. ( 15690381 )
2005
38
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
39
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
40
Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome. ( 11896785 )
2002
41
Novel mutations in the PATCHED gene in basal cell nevus syndrome. ( 12175781 )
2002
42
A novel polymorphism in the PTC gene allows easy identification of allelic loss in basal cell nevus syndrome lesions. ( 11277394 )
2001
43
A mouse model for medulloblastoma and basal cell nevus syndrome. ( 11718263 )
2001
44
Allelic loss at the PTCH gene locus in jaw cysts but not in palmar pits in patients with basal cell nevus syndrome. ( 11000293 )
2000
45
Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. ( 9620294 )
1998
46
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
47
The occurrence of endometrial adenocarcinoma in a patient with basal cell nevus syndrome. ( 9264223 )
1997
48
Human homolog of patched, a candidate gene for the basal cell nevus syndrome. ( 8658145 )
1996
49
Basal cell nevus syndrome and dysplastic nevus syndrome: investigation of gene expression by differential hybridization. ( 8818188 )
1996
50
Basal cell nevus syndrome and medulloblastoma: a case report. ( 8060441 )
1993

Variations for Basal Cell Nevus Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 PTCH1 p.Leu175Pro VAR_007843
2 PTCH1 p.Phe376Ser VAR_007844
3 PTCH1 p.Arg1114Trp VAR_007847 rs587776689
4 PTCH1 p.Gly509Val VAR_010975
5 PTCH1 p.Asp513Tyr VAR_010976
6 PTCH1 p.Gly1069Arg VAR_010979
7 PTCH1 p.Ser1132Pro VAR_010980
8 PTCH1 p.Ser1132Tyr VAR_010981
9 PTCH1 p.Glu1438Asp VAR_010984
10 PTCH1 p.Thr230Pro VAR_020845

ClinVar genetic disease variations for Basal Cell Nevus Syndrome:

6 (show top 50) (show all 63)
id Gene Variation Type Significance SNP ID Assembly Location
1 SUFU NM_016169.3(SUFU): c.1022+1G> A single nucleotide variant Pathogenic rs587776578 GRCh37 Chromosome 10, 104359302: 104359302
2 PTCH2 NM_001166292.1(PTCH2): c.2156G> A (p.Arg719Gln) single nucleotide variant Pathogenic rs121434397 GRCh37 Chromosome 1, 45293289: 45293289
3 PTCH1 PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INS insertion Pathogenic
4 PTCH1 PTCH1, 11-BP DEL, NT2442 deletion Pathogenic
5 PTCH1 NM_000264.3(PTCH1): c.1081C> T (p.Gln361Ter) single nucleotide variant Pathogenic rs199476090 GRCh37 Chromosome 9, 98241416: 98241416
6 PTCH1 PTCH1, 37-BP DEL, NT808 deletion Pathogenic
7 PTCH1 PTCH1, 1148G-A single nucleotide variant Pathogenic
8 PTCH1 PTCH1, 2-BP INS, 2047CT insertion Pathogenic
9 PTCH1 PTCH1, 1-BP INS, 2000C insertion Pathogenic
10 PTCH1 PTCH1, 1-BP DEL, 2583C deletion Pathogenic
11 PTCH1 PTCH1, 1-BP INS, 1247T insertion Pathogenic
12 PTCH1 PTCH1, TRP129TER single nucleotide variant Pathogenic
13 PTCH1 NM_000264.3(PTCH1): c.395-1G> A single nucleotide variant Likely pathogenic rs368869806 GRCh37 Chromosome 9, 98248157: 98248157
14 PTCH1 NM_000264.3(PTCH1): c.3168+2T> C single nucleotide variant Pathogenic rs786204056 GRCh37 Chromosome 9, 98220293: 98220293
15 PTCH1 NM_000264.3(PTCH1): c.343G> T (p.Gly115Ter) single nucleotide variant Pathogenic rs794727242 GRCh38 Chromosome 9, 95506458: 95506458
16 PTCH1 NM_000264.3(PTCH1): c.3450-2A> G single nucleotide variant Likely pathogenic rs863224443 GRCh37 Chromosome 9, 98212224: 98212224
17 PTCH1 NM_000264.3(PTCH1): c.3449+1G> A single nucleotide variant Likely pathogenic rs863224442 GRCh38 Chromosome 9, 95453477: 95453477
18 PTCH1 NM_000264.3(PTCH1): c.2842_2849delTGGGTCCA (p.Trp948Argfs) deletion Pathogenic rs863224485 GRCh37 Chromosome 9, 98221920: 98221927
19 PTCH1 NM_000264.3(PTCH1): c.2799delG (p.Tyr934Metfs) deletion Pathogenic rs863224484 GRCh38 Chromosome 9, 95459688: 95459688
20 PTCH1 NM_000264.3(PTCH1): c.945+1G> A single nucleotide variant Pathogenic rs863224444 GRCh37 Chromosome 9, 98242671: 98242671
21 PTCH1 NM_000264.3(PTCH1): c.666T> A (p.Tyr222Ter) single nucleotide variant Pathogenic rs863224487 GRCh38 Chromosome 9, 95482029: 95482029
22 PTCH1 NM_000264.3(PTCH1): c.612C> G (p.Tyr204Ter) single nucleotide variant Pathogenic rs863224486 GRCh38 Chromosome 9, 95482176: 95482176
23 PTCH1 NM_000264.3(PTCH1): c.1591_1601delATCCCTTTTGA (p.Ile531Glyfs) deletion Pathogenic rs863225055 GRCh38 Chromosome 9, 95476760: 95476770
24 PTCH1 NM_000264.3(PTCH1): c.1502A> G (p.Gln501Arg) single nucleotide variant Pathogenic rs863225054 GRCh38 Chromosome 9, 95477548: 95477548
25 PTCH1 GRCh37/hg19 9q22.32(chr9: 98207091-98210940)x1 copy number loss Pathogenic GRCh37 Chromosome 9, 98207091: 98210940
26 subset of 12 genes:PTCH1 GRCh37/hg19 9q22.32(97579146-99280739)x1 copy number loss Pathogenic GRCh37 Chromosome 9, 97579146: 99280739
27 PTCH1 NM_000264.3(PTCH1): c.2539_2542delTACTinsAG (p.Tyr847Serfs) indel Pathogenic rs863225467 GRCh37 Chromosome 9, 98229416: 98229419
28 PTCH1 NM_000264.3(PTCH1): c.1503+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs864622293 GRCh38 Chromosome 9, 95477546: 95477546
29 PTCH1 NM_000264.3(PTCH1): c.1329delC (p.Ser444Alafs) deletion Pathogenic rs864622374 GRCh38 Chromosome 9, 95478073: 95478073
30 PTCH1 NM_000264.3(PTCH1): c.270_304del35 (p.Tyr93Glyfs) deletion Pathogenic rs864622583 GRCh37 Chromosome 9, 98268779: 98268813
31 PTCH1 NM_000264.3(PTCH1): c.258_259delCT (p.Leu87Ilefs) deletion Pathogenic rs864622212 GRCh38 Chromosome 9, 95506542: 95506543
32 PTCH1 NM_000264.3(PTCH1): c.3394T> C (p.Ser1132Pro) single nucleotide variant Likely pathogenic rs878853856 GRCh37 Chromosome 9, 98215815: 98215815
33 PTCH1 NM_000264.3(PTCH1): c.2561-2A> T single nucleotide variant Likely pathogenic rs878853852 GRCh37 Chromosome 9, 98224282: 98224282
34 PTCH1 NM_000264.3(PTCH1): c.2391C> A (p.Tyr797Ter) single nucleotide variant Pathogenic rs778260156 GRCh38 Chromosome 9, 95467285: 95467285
35 PTCH1 NM_000264.3(PTCH1): c.1615delG (p.Glu539Serfs) deletion Pathogenic rs878853847 GRCh37 Chromosome 9, 98238429: 98238429
36 PTCH1 NM_000264.3(PTCH1): c.202-2A> G single nucleotide variant Likely pathogenic rs878853849 GRCh37 Chromosome 9, 98268883: 98268883
37 PTCH1 NM_001083602.1(PTCH1): c.1813dupC (p.His605Profs) duplication Pathogenic GRCh37 Chromosome 9, 98231272: 98231272
38 PTCH1 NM_000264.3(PTCH1): c.114delG (p.Leu39Cysfs) deletion Pathogenic rs1057518664 GRCh38 Chromosome 9, 95508248: 95508248
39 PTCH1 NC_000009.12: g.(?_95442982)_(95508549_?)del deletion Pathogenic GRCh37 Chromosome 9, 98205264: 98270831
40 PTCH1 NC_000009.12: g.(?_95467116)_(95469931_?)del deletion Pathogenic GRCh37 Chromosome 9, 98229398: 98232213
41 PTCH1 NM_000264.3(PTCH1): c.3460delG (p.Ala1154Leufs) deletion Pathogenic rs1060502264 GRCh38 Chromosome 9, 95449930: 95449930
42 PTCH1 NM_000264.3(PTCH1): c.3152G> A (p.Trp1051Ter) single nucleotide variant Pathogenic rs1060502301 GRCh38 Chromosome 9, 95458029: 95458029
43 PTCH1 NM_000264.3(PTCH1): c.1602+1G> T single nucleotide variant Likely pathogenic rs1060502277 GRCh38 Chromosome 9, 95476758: 95476758
44 PTCH1 NM_000264.3(PTCH1): c.1155delC (p.Asn386Thrfs) deletion Pathogenic rs1060502297 GRCh38 Chromosome 9, 95479060: 95479060
45 PTCH1 NM_000264.3(PTCH1): c.2308C> T (p.Arg770Ter) single nucleotide variant Pathogenic rs766313615 GRCh38 Chromosome 9, 95467368: 95467368
46 PTCH1 NM_000264.3(PTCH1): c.1882C> T (p.Gln628Ter) single nucleotide variant Pathogenic rs1060502274 GRCh38 Chromosome 9, 95469119: 95469119
47 PTCH1 NM_000264.3(PTCH1): c.1208_1209delAT (p.Tyr403Cysfs) deletion Pathogenic rs1060502286 GRCh38 Chromosome 9, 95479006: 95479007
48 PTCH1 NM_000264.3(PTCH1): c.1068-2A> T single nucleotide variant Likely pathogenic rs1060502271 GRCh38 Chromosome 9, 95479149: 95479149
49 PTCH1 NM_000264.3(PTCH1): c.708G> A (p.Trp236Ter) single nucleotide variant Pathogenic rs1060502287 GRCh38 Chromosome 9, 95481987: 95481987
50 PTCH1 NM_000264.3(PTCH1): c.454_455delAT (p.Met152Valfs) deletion Pathogenic rs1060502280 GRCh38 Chromosome 9, 95485814: 95485815

Cosmic variations for Basal Cell Nevus Syndrome:

9 (show top 50) (show all 224)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM43583 TP53 skin,eye,carcinoma,basal cell carcinoma c.425C>T p.P142L 24
2 COSM44126 TP53 skin,eye,carcinoma,basal cell carcinoma c.507G>A p.M169I 24
3 COSM144245 PTCH1 skin,eye,carcinoma,basal cell carcinoma c.1585A>T p.K529* 24
4 COSM17596 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.863G>A p.G288D 24
5 COSM17602 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1922C>T p.P641L 24
6 COSM17597 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1977G>A p.Q659Q 24
7 COSM44130 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159A 23
8 COSM43920 TP53 skin,NS,carcinoma,basal cell carcinoma c.680C>T p.S227F 23
9 COSM10705 TP53 skin,NS,carcinoma,basal cell carcinoma c.586C>T p.R196* 23
10 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 23
11 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 23
12 COSM11084 TP53 skin,NS,carcinoma,basal cell carcinoma c.517G>A p.V173M 23
13 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 23
14 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 23
15 COSM44603 TP53 skin,NS,carcinoma,basal cell carcinoma c.835G>A p.G279R 23
16 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 23
17 COSM44435 TP53 skin,NS,carcinoma,basal cell carcinoma c.96+1G>A p.? 23
18 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 23
19 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 23
20 COSM43837 TP53 skin,NS,carcinoma,basal cell carcinoma c.843C>G p.D281E 23
21 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 23
22 COSM45322 TP53 skin,NS,carcinoma,basal cell carcinoma c.757A>G p.T253A 23
23 COSM10995 TP53 skin,NS,carcinoma,basal cell carcinoma c.580C>T p.L194F 23
24 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 23
25 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 23
26 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 23
27 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 23
28 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 23
29 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 23
30 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 23
31 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 23
32 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 23
33 COSM44398 TP53 skin,NS,carcinoma,basal cell carcinoma c.682G>A p.D228N 23
34 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 23
35 COSM44310 TP53 skin,NS,carcinoma,basal cell carcinoma c.738G>A p.M246I 23
36 COSM11376 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 23
37 COSM10867 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 23
38 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 23
39 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 23
40 COSM43842 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 23
41 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 23
42 COSM45733 TP53 skin,NS,carcinoma,basal cell carcinoma c.432G>A p.Q144Q 23
43 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 23
44 COSM44226 TP53 skin,NS,carcinoma,basal cell carcinoma c.380C>T p.S127F 23
45 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 23
46 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 23
47 COSM43714 TP53 skin,NS,carcinoma,basal cell carcinoma c.836G>A p.G279E 23
48 COSM10863 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 23
49 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 23
50 COSM43700 TP53 skin,NS,carcinoma,basal cell carcinoma c.712T>A p.C238S 23

Copy number variations for Basal Cell Nevus Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 256420 9 93000000 101600000 Copy number PTCH Basal cell nevus syndrome

Expression for Basal Cell Nevus Syndrome

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

Pathways for Basal Cell Nevus Syndrome

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

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
2
Show member pathways
13.35 GAS1 GLI1 PTCH1 PTCH2 ROR2 SMO
3
Show member pathways
12.74 GLI1 GLI2 GLI3 PTCH1 PTCH2 SMO
4 12.57 GLI1 GLI2 GLI3 PTCH1 PTCH2 SHH
5
Show member pathways
12.45 GAS1 GLI1 GLI2 GLI3 KIF7 PTCH1
6
Show member pathways
12.24 PTCH1 PTCH2 SHH SMO
7 12.17 GLI1 GLI2 PTCH1 PTCH2 SHH SUFU
8
Show member pathways
11.96 GLI1 GLI2 GLI3 PTCH1 PTCH2 ROR2
9
Show member pathways
11.43 GAS1 GLI1 GLI2 GLI3 KIF7 PTCH1
10 11.39 GLI1 GLI2 PTCH1 SHH SMO
11 11.11 GLI1 GLI2 SHH
12
Show member pathways
11.11 GAS1 GLI2 PTCH1 PTCH2 SHH SMO
13 10.48 GLI3 SHH
14 10.41 PTCH1 SHH

GO Terms for Basal Cell Nevus Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.5 GLI1 GLI2 GLI3 KIF7 PTCH1 SMO
2 ciliary base GO:0097546 9.46 GLI1 GLI2 GLI3 SUFU
3 axoneme GO:0005930 9.43 GLI1 GLI2 GLI3
4 ciliary tip GO:0097542 9.1 GLI1 GLI2 GLI3 KIF7 SMO SUFU

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

(show top 50) (show all 82)
id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.99 GLI2 ROR2 SUFU TGFBR1
2 anterior/posterior pattern specification GO:0009952 9.97 GLI2 GLI3 SHH SMO TGFBR1
3 kidney development GO:0001822 9.96 GLI2 GLI3 SHH TGFBR1
4 lung development GO:0030324 9.95 GLI1 GLI2 GLI3 SHH
5 central nervous system development GO:0007417 9.93 GLI3 SHH SMO
6 osteoblast differentiation GO:0001649 9.92 GLI1 GLI2 SMO
7 palate development GO:0060021 9.91 GLI3 SHH TGFBR1
8 canonical Wnt signaling pathway GO:0060070 9.91 GLI1 PORCN SHH
9 embryonic digit morphogenesis GO:0042733 9.91 GLI2 GLI3 ROR2 SHH
10 determination of left/right symmetry GO:0007368 9.9 SHH SMO SUFU
11 odontogenesis of dentin-containing tooth GO:0042475 9.9 GLI2 GLI3 SHH SMO
12 cell fate commitment GO:0045165 9.89 GAS1 ROR2 SHH
13 heart looping GO:0001947 9.89 SHH SMO SUFU
14 embryonic limb morphogenesis GO:0030326 9.88 GLI3 PTCH1 SHH
15 embryonic organ development GO:0048568 9.88 GLI3 PTCH1 SHH SMO
16 skin development GO:0043588 9.87 PTCH2 SHH SUFU
17 branching involved in ureteric bud morphogenesis GO:0001658 9.87 GLI3 PTCH1 SHH
18 positive regulation of smoothened signaling pathway GO:0045880 9.86 GLI1 KIF7 SHH SMO
19 neuron fate commitment GO:0048663 9.85 GLI3 SHH TGFBR1
20 mammary gland development GO:0030879 9.84 GLI2 GLI3 PTCH1
21 branching morphogenesis of an epithelial tube GO:0048754 9.84 GLI2 GLI3 SHH
22 regulation of smoothened signaling pathway GO:0008589 9.83 GAS1 GLI1 GLI2 PTCH1
23 pattern specification process GO:0007389 9.83 GLI2 GLI3 PTCH1 SHH SMO
24 proximal/distal pattern formation GO:0009954 9.82 GLI1 GLI2 GLI3
25 renal system development GO:0072001 9.82 PTCH1 SHH SMO
26 positive regulation of neuroblast proliferation GO:0002052 9.81 GLI3 SHH SMO
27 anatomical structure formation involved in morphogenesis GO:0048646 9.81 GLI2 GLI3 SHH
28 spinal cord motor neuron differentiation GO:0021522 9.81 GLI2 GLI3 PTCH1 SHH
29 positive regulation of protein import into nucleus GO:0042307 9.8 GLI3 SHH SMO
30 somite development GO:0061053 9.79 PTCH1 SHH SMO
31 anatomical structure development GO:0048856 9.79 GLI2 GLI3 SHH
32 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.77 GLI2 GLI3 PTCH1
33 developmental growth GO:0048589 9.77 GAS1 GLI2 GLI3 SHH SMO
34 limb morphogenesis GO:0035108 9.76 GLI3 PTCH1
35 hindbrain development GO:0030902 9.76 GLI2 SHH
36 male genitalia development GO:0030539 9.76 ROR2 SHH
37 embryonic digestive tract morphogenesis GO:0048557 9.75 GLI3 SHH
38 cell fate determination GO:0001709 9.75 PTCH1 PTCH2
39 pharyngeal system development GO:0060037 9.75 PTCH1 TGFBR1
40 osteoblast development GO:0002076 9.75 GLI2 SHH
41 negative regulation of chondrocyte differentiation GO:0032331 9.75 GLI2 TGFBR1
42 embryonic digestive tract development GO:0048566 9.75 GLI2 GLI3
43 embryonic morphogenesis GO:0048598 9.74 GLI3 SHH
44 digestive tract morphogenesis GO:0048546 9.74 GLI1 SHH
45 cell fate specification GO:0001708 9.74 SHH SMO
46 mammary gland epithelial cell differentiation GO:0060644 9.74 PTCH1 SMO
47 thalamus development GO:0021794 9.74 SHH SMO
48 cellular response to cholesterol GO:0071397 9.74 PTCH1 SMO
49 cerebellar cortex morphogenesis GO:0021696 9.74 GLI1 GLI2 SMO
50 negative thymic T cell selection GO:0045060 9.73 GLI3 SHH

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

id Name GO ID Score Top Affiliating Genes
1 hedgehog family protein binding GO:0097108 9.26 PTCH1 PTCH2
2 hedgehog receptor activity GO:0008158 9.16 PTCH1 PTCH2
3 smoothened binding GO:0005119 8.96 PTCH1 PTCH2
4 patched binding GO:0005113 8.8 PTCH1 SHH SMO

Sources for Basal Cell Nevus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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