BCNS
MCID: BSL036
MIFTS: 69

Basal Cell Nevus Syndrome (BCNS)

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

Aliases & Classifications for Basal Cell Nevus Syndrome

MalaCards integrated aliases for Basal Cell Nevus Syndrome:

Name: Basal Cell Nevus Syndrome 57 12 24 53 25 59 75 37 13 44 40 73
Nevoid Basal Cell Carcinoma Syndrome 57 12 76 24 53 25 59 55 15
Gorlin Syndrome 57 12 24 53 25 59 29 6
Gorlin-Goltz Syndrome 57 53 25 59
Nbccs 57 24 25 59
Bcns 57 24 25 75
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies 57 53
Nevoid Basal Cell Carcinoma Syndrome; Nbccs 57
Gorlin Syndrome or Gorlin-Goltz Syndrome 75

Characteristics:

Orphanet epidemiological data:

59
gorlin syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
paternal age effect
abnormal sensitivity to therapeutic radiation


HPO:

32
basal cell nevus syndrome:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance


GeneReviews:

24
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:



Summaries for Basal Cell Nevus Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Basal Cell Nevus Syndrome, also known as nevoid basal cell carcinoma syndrome, is related to focal dermal hypoplasia and ameloblastoma. An important gene associated with Basal Cell Nevus Syndrome is PTCH1 (Patched 1), and among its related pathways/superpathways are Hedgehog signaling pathway and Pathways in cancer. The drugs Verteporfin and Photosensitizing Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are hypertelorism and frontal bossing

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 : 75 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 : 76 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 172)
# Related Disease Score Top Affiliating Genes
1 focal dermal hypoplasia 32.7 PORCN PTCH1
2 ameloblastoma 30.2 GLI1 PTCH1 SMO
3 basal cell carcinoma 30.1 SUFU SMO SHH PTCH2 PTCH1 GLI3
4 nodular medulloblastoma 29.8 GLI1 GLI2 PTCH1 SUFU
5 keratocystic odontogenic tumor 29.7 GLI1 PTCH1 SHH SMO SUFU
6 medulloblastoma 29.6 GLI1 GLI2 GLI3 PTCH1 PTCH2 SHH
7 meier-gorlin syndrome 1 12.6
8 meier-gorlin syndrome 3 12.5
9 meier-gorlin syndrome 8 12.4
10 meier-gorlin syndrome 2 12.4
11 meier-gorlin syndrome 4 12.4
12 meier-gorlin syndrome 5 12.4
13 meier-gorlin syndrome 6 12.3
14 meier-gorlin syndrome 7 12.3
15 lopes gorlin syndrome 12.0
16 basal cell carcinoma 1 11.6
17 hypertelorism, microtia, facial clefting syndrome 11.4
18 9q22.3 microdeletion 11.3
19 short tarsus with absence of lower eyelashes 11.1
20 oculomaxillofacial dysostosis 11.1
21 microphthalmia, syndromic 2 11.0
22 leopard syndrome 11.0
23 craniofacial microsomia 11.0
24 bazex syndrome 11.0
25 soft tissue sarcoma 11.0
26 leiomyosarcoma 10.2
27 fibrosarcoma 10.2
28 epidermoid cysts 10.2
29 nail-patella syndrome 10.2
30 orofacial cleft 10.2
31 gastric leiomyoma 10.2
32 sarcoma 10.2
33 lymphangioma 10.2
34 pneumothorax 10.2
35 endometriosis 10.2
36 cystic lymphangioma 10.2
37 eyelid carcinoma 10.2
38 paresthesia 10.2
39 holoprosencephaly, recurrent infections, and monocytosis 10.2 GLI2 PTCH1
40 calcifying epithelial odontogenic tumor 10.2 GLI2 PTCH1
41 albinism, oculocutaneous, type v 10.1 PTCH2 SHH SUFU
42 squamous cell carcinoma 10.1
43 albinism, oculocutaneous, type vii 10.1 PTCH2 SHH SUFU
44 hemifacial microsomia 10.1
45 ovarian fibroma 10.1
46 bardet-biedl syndrome 17 10.1 GLI2 PTCH1 SHH
47 basal cell carcinoma, multiple 10.1 PTCH1 PTCH2 SMO
48 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.1 GLI1 GLI2 SHH
49 culler-jones syndrome 10.1 GLI2 GLI3
50 brachydactyly, type a1 10.1 GAS1 PTCH1 ROR2 SHH

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 via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
glaucoma
iris coloboma
lateral displacement of the inner canthi
more
Head And Neck Mouth:
cleft palate
cleft lip

Chest Ribs Sternum Clavicles And Scapulae:
bifid ribs
synostotic ribs
hypoplastic ribs

Skin Nails Hair Skin:
basal cell carcinoma
basal cell nevi
pits of palms and soles

Cardiovascular Heart:
cardiac fibroma

Head And Neck Nose:
broad nasal root

Abdomen Gastrointestinal:
lymphomesenteric cysts, often calcified
hamartomatous stomach polyps

Skeletal Spine:
scoliosis
kyphoscoliosis
abnormal cervical vertebrae

Skeletal Limbs:
short 4th metacarpal
brachydactyly
short thumb terminal phalanx

Neurologic Central Nervous System:
medulloblastoma
mental retardation (less common)
calicification of the falx cerebri

Genitourinary Internal Genitalia Female:
ovarian carcinoma
ovarian fibromata

Head And Neck Face:
broad facies
frontal and biparietal bossing
mild mandibular prognathism
odontogenic keratocysts of jaws

Respiratory Lung:
congenital lung cyst


Clinical features from OMIM:

109400

Human phenotypes related to Basal Cell Nevus Syndrome:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
3 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
4 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 cerebral calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0002514
6 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
7 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
8 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
9 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
10 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
11 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
12 neoplasm 59 32 hallmark (90%) Very frequent (99-80%) HP:0002664
13 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
14 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
15 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
16 melanocytic nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000995
17 hypogonadotrophic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000044
18 telecanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000506
19 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
20 arachnodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001166
21 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
22 abnormality of the neck 59 32 frequent (33%) Frequent (79-30%) HP:0000464
23 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
24 hemivertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0002937
25 vertebral fusion 59 32 frequent (33%) Frequent (79-30%) HP:0002948
26 abnormality of the sense of smell 59 32 occasional (7.5%) Occasional (29-5%) HP:0004408
27 vertebral wedging 59 32 frequent (33%) Frequent (79-30%) HP:0008422
28 palmar pits 59 32 hallmark (90%) Very frequent (99-80%) HP:0010610
29 plantar pits 59 32 hallmark (90%) 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 motor delay 32 HP:0001270
36 microphthalmia 32 HP:0000568
37 spina bifida 32 HP:0002414
38 down-sloping shoulders 32 HP:0200021
39 cleft upper lip 32 HP:0000204
40 bifid ribs 32 HP:0000892
41 supernumerary ribs 32 HP:0005815
42 abnormality of the sternum 32 HP:0000766
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

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.58 PTCH2
2 Decreased viability GR00221-A-1 9.58 PTCH2
3 Decreased viability GR00221-A-2 9.58 PTCH2 ROR2
4 Decreased viability GR00221-A-3 9.58 DHH PTCH2 ROR2 SHH
5 Decreased viability GR00221-A-4 9.58 PTCH2 ROR2
6 Decreased viability GR00231-A 9.58 ROR2
7 Decreased viability GR00301-A 9.58 PTCH2
8 Decreased viability GR00342-S-1 9.58 ROR2
9 Decreased viability GR00342-S-3 9.58 ROR2
10 Decreased viability GR00402-S-2 9.58 DHH PTCH2 ROR2 SHH
11 Decreased ionizing radiation sensitivity GR00232-A-1 9.5 FBXL17 GLI2 GLI3 KIF24 PTCH1 PTCH2

MGI Mouse Phenotypes related to Basal Cell Nevus Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.31 DHH GLI1 GLI2 GLI3 KIF7 PORCN
2 craniofacial MP:0005382 10.29 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
3 embryo MP:0005380 10.26 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
4 growth/size/body region MP:0005378 10.24 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
5 nervous system MP:0003631 10.22 DHH GAS1 GLI1 GLI2 GLI3 KIF7
6 cardiovascular system MP:0005385 10.21 GAS1 GLI3 KIF7 PTCH1 PTCH2 ROR2
7 limbs/digits/tail MP:0005371 10.2 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
8 mortality/aging MP:0010768 10.17 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
9 endocrine/exocrine gland MP:0005379 10.11 DHH GLI1 GLI2 GLI3 PORCN PTCH1
10 hearing/vestibular/ear MP:0005377 10.02 GAS1 GLI2 GLI3 PTCH1 ROR2 SHH
11 normal MP:0002873 9.97 GLI1 GLI2 GLI3 PORCN PTCH1 PTCH2
12 reproductive system MP:0005389 9.96 DHH GLI1 GLI2 GLI3 KIF7 PORCN
13 no phenotypic analysis MP:0003012 9.91 GLI1 GLI2 GLI3 KIF7 PTCH1 SHH
14 respiratory system MP:0005388 9.85 GAS1 GLI1 GLI2 GLI3 KIF7 PTCH1
15 skeleton MP:0005390 9.65 GAS1 GLI2 GLI3 KIF7 PORCN PTCH1
16 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 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verteporfin Approved, Investigational Phase 3 129497-78-5
2 Photosensitizing Agents Phase 3,Phase 2,Not Applicable
3 Dermatologic Agents Phase 3,Phase 2,Not Applicable
4
Tazarotene Approved, Investigational Phase 2 118292-40-3 5381
5
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
6
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
7
Aminolevulinic acid Approved Phase 2,Phase 1,Not Applicable 106-60-5 137
8
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
9
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
10
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
11
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
13 Interferon-gamma Phase 1, Phase 2,Phase 2
14 Vitamin B Complex Phase 2
15 Vitamin B9 Phase 2
16 Keratolytic Agents Phase 2
17 Nicotinic Acids Phase 2
18 Trace Elements Phase 2,Phase 1,Not Applicable
19 Vitamins Phase 2,Phase 1,Not Applicable
20 Vitamin B3 Phase 2
21 Folate Phase 2
22 Micronutrients Phase 2,Phase 1,Not Applicable
23 Cyclooxygenase Inhibitors Phase 2
24 Antirheumatic Agents Phase 2
25 Anti-Inflammatory Agents, Non-Steroidal Phase 2
26 Cyclooxygenase 2 Inhibitors Phase 2
27 Analgesics, Non-Narcotic Phase 2
28 Peripheral Nervous System Agents Phase 2
29 Anti-Inflammatory Agents Phase 2
30 Analgesics Phase 2
31 Pharmaceutical Solutions Phase 2,Not Applicable
32 Anti-Infective Agents Phase 2,Phase 1
33 Steroid Synthesis Inhibitors Phase 2
34 Cytochrome P-450 CYP3A Inhibitors Phase 2
35 Cytochrome P-450 Enzyme Inhibitors Phase 2
36
Hydroxyitraconazole Phase 2
37 Hormone Antagonists Phase 2
38 Hormones Phase 2
39 Antifungal Agents Phase 2,Phase 1
40 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
41 interferons Phase 1, Phase 2
42
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 6436030 5284616
43
Everolimus Approved Phase 1 159351-69-6 6442177
44
Vitamin D3 Approved, Nutraceutical Phase 1,Not Applicable 67-97-0 5280795 6221
45
Ergocalciferol Approved, Nutraceutical Phase 1,Not Applicable 50-14-6 5280793
46
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1,Not Applicable 1406-16-2
47 Antibiotics, Antitubercular Phase 1
48 Anti-Bacterial Agents Phase 1
49 Immunosuppressive Agents Phase 1
50 Immunologic Factors Phase 1

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Subjects With Basal Cell Nevus Syndrome Not yet recruiting NCT03703310 Phase 3 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
2 Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin. Terminated NCT00049959 Phase 3 verteporfin PDT
3 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 LDE225B;Vehicle
4 Study of ASN-002 to Treat Basal Cell Carcinomas (BCCs) in Individuals With Basal Cell Nevus Syndrome (BCNS) Suspended NCT03208296 Phase 1, Phase 2
5 Nivolumab With Vismodegib in Patients With Basal Cell Nevus Syndrome Not yet recruiting NCT03767439 Phase 2 Vismodegib;Nivolumab;Ipilimumab
6 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 patidegib;vehicle gel
7 To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2 GDC-0449
8 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Chest and Back Completed NCT00783965 Phase 2 tazarotene
9 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Face Completed NCT00489086 Phase 2 tazarotene
10 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 Vehicle;LDE225 0.25%;LDE225 0.75%
11 Celecoxib in Preventing Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Completed NCT00023621 Phase 2 celecoxib
12 Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2 Vismodegib;Aminolevulinic acid %20 topical solution
13 Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Completed NCT01350115 Phase 2 LDE225;Placebo
14 A Study of Two Vismodegib Regimens in Participants With Multiple Basal Cell Carcinomas Completed NCT01815840 Phase 2 Vismodegib;Placebo
15 Open-label Trial of SUBA™-Itraconazole (SUBA-Cap) in Subjects With Basal Cell Carcinoma Nevus Syndrome (BCCNS) Active, not recruiting NCT02354261 Phase 2 SUBA-Itraconazole
16 A Study of the Efficacy and Safety of ASN-002 in Adult Patients With Low-risk Nodular Basal Cell Carcinoma Completed NCT02550678 Phase 1, Phase 2 5-FU
17 Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the GLI1 Biomarker in Sporadic Nodular Basal Cell Carcinomas Completed NCT02828111 Phase 2 Patidegib;Vehicle gel
18 Topical Sirolimus in Patients With Basal Cell Nevus Syndrome and in Healthy Participants Completed NCT00433485 Phase 1 sirolimus
19 Vitamin D and Photodynamic Therapy for Treatment of BCC in BCNS Recruiting NCT03483441 Phase 1 PDT
20 Photodynamic Therapy and Vismodegib for Multiple Basal Cell Carcinomas Completed NCT02639117 Phase 1 Vismodegib
21 Development of a Nanosecond Pulsed Electric Field System to Treat Skin Cancer Completed NCT01463709 Phase 1
22 Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus Syndrome Completed NCT02157623 Not Applicable Levulan
23 Study of BMS-833923 in Two Specific Patients With Basal Cell Nevus Syndrome Completed NCT02100371 Not Applicable BMS-833923
24 Vitamin D as a Nutritional Neoadjuvant During Photodynamic Therapy of Basal Cell Carcinoma Recruiting NCT03467789 Not Applicable
25 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
26 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
27 Isotretinoin in Preventing Skin Cancer Completed NCT00025012 Not Applicable isotretinoin
28 A Study to Assess the Effectiveness and Safety of Vismodegib (Erivedge®) in Participants With Advanced Basal Cell Carcinoma (BCC) Active, not recruiting NCT02371967 Vismodegib
29 Levocarnitine in Treating Patients With Vismodegib-Associated Muscle Spasms Completed NCT01893892 Not Applicable
30 A Clinical Trial of Dermacorder for Detecting Malignant Skin Lesions Completed NCT01014819
31 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

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:

# Genetic test Affiliating Genes
1 Gorlin Syndrome 29 PTCH1 PTCH2 SUFU

Anatomical Context for Basal Cell Nevus Syndrome

MalaCards organs/tissues related to Basal Cell Nevus Syndrome:

41
Skin, Bone, Heart, Ovary, Eye, Testes, Lung

Publications for Basal Cell Nevus Syndrome

Articles related to Basal Cell Nevus Syndrome:

(show top 50) (show all 219)
# Title Authors Year
1
Basal cell nevus syndrome (Gorlin syndrome): genetic insights, diagnostic challenges, and unmet milestones. ( 29454489 )
2018
2
PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome. ( 29930296 )
2018
3
Multiple, Multiloculated, and Recurrent Keratocysts of the Mandible and Maxilla in Association with Gorlin-Goltz (Nevoid Basal-Cell Carcinoma) Syndrome: A Pediatric Case Report and Follow-up over 5 Years. ( 30327736 )
2018
4
Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data. ( 30411536 )
2018
5
A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome. ( 29544218 )
2018
6
Odontogenic Keratocysts as First Manifestation of Nevoid Basal Cell Carcinoma Syndrome: Surgical Management and Immunohistochemical Analysis. ( 29621081 )
2018
7
Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome. ( 30140199 )
2018
8
Rhabdomyosarcoma and rhabdomyoma associated with nevoid basal cell carcinoma syndrome: Local treatment strategy. ( 29799139 )
2018
9
Vismodegib-resistant basal cell carcinomas in basal cell nevus syndrome: Clinical approach and genetic analysis. ( 29984265 )
2018
10
Muckle-Wells syndrome in the setting of basal cell nevus syndrome. ( 28686751 )
2017
11
Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment. ( 28951717 )
2017
12
Molecular analysis of keratocystic odontogenic tumor cell lines derived from sporadic and basal cell nevus syndrome patients. ( 29039452 )
2017
13
Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome. ( 28342698 )
2017
14
Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome. ( 28363938 )
2017
15
Clinical Finding and Management of 12 Orofacial Clefts Cases With Nevoid Basal Cell Carcinoma Syndrome. ( 28471735 )
2017
16
Brain morphology in children with nevoid basal cell carcinoma syndrome. ( 28328116 )
2017
17
Nevoid Basal Cell Carcinoma Syndrome and Hairy Skin Patches. ( 28120347 )
2017
18
Whole-exome sequencing to identify novel mutations of nevoid basal cell carcinoma syndrome in a Chinese population. ( 29081410 )
2017
19
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
20
Risk Factors for Basal Cell Carcinoma Among Patients With Basal Cell Nevus Syndrome: Development of a Basal Cell Nevus Syndrome Patient Registry. ( 27902821 )
2016
21
AKT1 Activation is Obligatory for Spontaneous BCC Tumor Growth in a Murine Model That Mimics Some Features of Basal Cell Nevus Syndrome. ( 27388747 )
2016
22
BASAL CELL NEVUS SYNDROME PRESENTING AS EPIRETINAL MEMBRANE AND MYELINATED NERVE FIBER LAYER. ( 27533646 )
2016
23
Segmental Basal cell nevus syndrome caused by an activating mutation in Smoothened. ( 26822128 )
2016
24
Hedgehog pathway inhibitor therapy in basal-cell nevus syndrome. ( 27838223 )
2016
25
Nevoid Basal Cell Carcinoma Syndrome and dysgerminoma: an incidental association? ( 26333390 )
2016
26
50 Years Ago in TheJournal ofPediatrics: Multiple Cutaneous Cancers in Children: The Nevoid Basal Cell Carcinoma Syndrome. ( 27346509 )
2016
27
Nevoid Basal Cell Carcinoma Syndrome: Report from the Zurich Nevoid Basal Cell Carcinoma Syndrome Cohort. ( 27054559 )
2016
28
Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome). ( 26971503 )
2016
29
Nevoid Basal Cell Carcinoma Syndrome: A Long-Term Study in a Family. ( 26889355 )
2016
30
Treatment of nevoid basal cell carcinoma syndrome: a case report. ( 27847737 )
2016
31
Basal Cell Nevus Syndrome: An Update on Genetics and Treatment. ( 26409035 )
2015
32
Intermittent Vismodegib Therapy in Basal Cell Nevus Syndrome. ( 26509945 )
2015
33
Dermoscopy for Identification of Basal Cell Carcinomas in Basal Cell Nevus Syndrome During Carbon Dioxide Laser Surgery. ( 26572667 )
2015
34
Basal cell nevus syndrome or Gorlin syndrome. ( 26564075 )
2015
35
Basal cell nevus syndrome: clinical and molecular review and case report. ( 26356331 )
2015
36
Hedgehog Pathway Inhibition for Locally Advanced Periocular Basal Cell Carcinoma and Basal Cell Nevus Syndrome. ( 25935097 )
2015
37
A systematic review of the literature of nevoid basal cell carcinoma syndrome affecting East Asians and North Europeans. ( 26297395 )
2015
38
Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). ( 26144853 )
2015
39
Case of nevoid basal cell carcinoma syndrome with multiple cutaneous keratocysts. ( 26126618 )
2015
40
Multiple keratocystic odontogenic tumors in nevoid basal cell carcinoma syndrome. ( 26981489 )
2015
41
Review of Ocular Manifestations of Nevoid Basal Cell Carcinoma Syndrome: What an Ophthalmologist Needs to Know. ( 26692711 )
2015
42
Conservative treatment protocol of keratocystic odontogenic tumor: report of a case with nevoid Basal cell carcinoma syndrome and literature review. ( 25848161 )
2015
43
A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung. ( 27081528 )
2015
44
The use of vismodegib to shrink keratocystic odontogenic tumors in patients with basal cell nevus syndrome. ( 24623282 )
2014
45
Sonic hedgehog signaling in Basal cell nevus syndrome. ( 25172843 )
2014
46
Squamous cell carcinoma of the maxilla in a patient with basal cell nevus syndrome. ( 24621716 )
2014
47
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
48
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
49
Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review of Korean Cases. ( 27489849 )
2014
50
Comment on basal cell carcinoma rebound after cessation of vismodegib in an individual with basal cell nevus syndrome. ( 23682843 )
2013

Variations for Basal Cell Nevus Syndrome

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

75
# 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 rs878853856
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 2452)
# 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 SUFU NM_016169.3(SUFU): c.1022+1G> A single nucleotide variant Pathogenic rs587776578 GRCh38 Chromosome 10, 102599545: 102599545
3 PTCH1 NM_000264.4(PTCH1): c.4171C> T (p.Arg1391Trp) single nucleotide variant Uncertain significance rs45535032 GRCh38 Chromosome 9, 95447085: 95447085
4 PTCH1 NM_000264.4(PTCH1): c.4324C> T (p.Arg1442Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs143464326 GRCh37 Chromosome 9, 98209214: 98209214
5 PTCH1 NM_000264.4(PTCH1): c.4324C> T (p.Arg1442Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs143464326 GRCh38 Chromosome 9, 95446932: 95446932
6 PTCH1 NM_000264.4(PTCH1): c.4325G> A (p.Arg1442Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs56023271 GRCh37 Chromosome 9, 98209213: 98209213
7 PTCH1 NM_000264.4(PTCH1): c.4325G> A (p.Arg1442Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs56023271 GRCh38 Chromosome 9, 95446931: 95446931
8 PTCH1 NM_000264.4(PTCH1): c.4080C> T (p.Ser1360=) single nucleotide variant Benign/Likely benign rs62637631 GRCh37 Chromosome 9, 98209458: 98209458
9 PTCH1 NM_000264.4(PTCH1): c.4080C> T (p.Ser1360=) single nucleotide variant Benign/Likely benign rs62637631 GRCh38 Chromosome 9, 95447176: 95447176
10 PTCH1 NM_000264.4(PTCH1): c.3867C> T (p.Asp1289=) single nucleotide variant Likely benign rs587780704 GRCh37 Chromosome 9, 98209671: 98209671
11 PTCH1 NM_000264.4(PTCH1): c.3867C> T (p.Asp1289=) single nucleotide variant Likely benign rs587780704 GRCh38 Chromosome 9, 95447389: 95447389
12 PTCH1 NM_000264.4(PTCH1): c.4128C> T (p.Ser1376=) single nucleotide variant Benign/Likely benign rs142148876 GRCh37 Chromosome 9, 98209410: 98209410
13 PTCH1 NM_000264.4(PTCH1): c.4128C> T (p.Ser1376=) single nucleotide variant Benign/Likely benign rs142148876 GRCh38 Chromosome 9, 95447128: 95447128
14 PTCH1 NM_000264.4(PTCH1): c.4170G> A (p.Gly1390=) single nucleotide variant Likely benign rs201118928 GRCh37 Chromosome 9, 98209368: 98209368
15 PTCH1 NM_000264.4(PTCH1): c.4170G> A (p.Gly1390=) single nucleotide variant Likely benign rs201118928 GRCh38 Chromosome 9, 95447086: 95447086
16 PTCH1 NM_000264.4(PTCH1): c.4239C> T (p.His1413=) single nucleotide variant Likely benign rs375040845 GRCh37 Chromosome 9, 98209299: 98209299
17 PTCH1 NM_000264.4(PTCH1): c.4239C> T (p.His1413=) single nucleotide variant Likely benign rs375040845 GRCh38 Chromosome 9, 95447017: 95447017
18 PTCH1 NM_000264.4(PTCH1): c.430C> T (p.Arg144Cys) single nucleotide variant Uncertain significance rs587780705 GRCh37 Chromosome 9, 98248121: 98248121
19 PTCH1 NM_000264.4(PTCH1): c.430C> T (p.Arg144Cys) single nucleotide variant Uncertain significance rs587780705 GRCh38 Chromosome 9, 95485839: 95485839
20 PTCH1 NM_000264.4(PTCH1): c.48C> T (p.Gly16=) single nucleotide variant Likely benign rs587780706 GRCh37 Chromosome 9, 98270596: 98270596
21 PTCH1 NM_000264.4(PTCH1): c.48C> T (p.Gly16=) single nucleotide variant Likely benign rs587780706 GRCh38 Chromosome 9, 95508314: 95508314
22 PTCH1 NM_000264.4(PTCH1): c.500C> A (p.Ala167Asp) single nucleotide variant Uncertain significance rs587780707 GRCh37 Chromosome 9, 98248051: 98248051
23 PTCH1 NM_000264.4(PTCH1): c.500C> A (p.Ala167Asp) single nucleotide variant Uncertain significance rs587780707 GRCh38 Chromosome 9, 95485769: 95485769
24 PTCH1 NM_000264.4(PTCH1): c.567T> C (p.His189=) single nucleotide variant Benign/Likely benign rs150759973 GRCh37 Chromosome 9, 98247984: 98247984
25 PTCH1 NM_000264.4(PTCH1): c.567T> C (p.His189=) single nucleotide variant Benign/Likely benign rs150759973 GRCh38 Chromosome 9, 95485702: 95485702
26 PTCH1 NM_000264.4(PTCH1): c.56G> T (p.Gly19Val) single nucleotide variant Uncertain significance rs587780708 GRCh37 Chromosome 9, 98270588: 98270588
27 PTCH1 NM_000264.4(PTCH1): c.56G> T (p.Gly19Val) single nucleotide variant Uncertain significance rs587780708 GRCh38 Chromosome 9, 95508306: 95508306
28 PTCH1 NM_000264.4(PTCH1): c.646A> G (p.Met216Val) single nucleotide variant Uncertain significance rs587780709 GRCh37 Chromosome 9, 98244424: 98244424
29 PTCH1 NM_000264.4(PTCH1): c.646A> G (p.Met216Val) single nucleotide variant Uncertain significance rs587780709 GRCh38 Chromosome 9, 95482142: 95482142
30 PTCH1 NM_000264.4(PTCH1): c.801G> A (p.Glu267=) single nucleotide variant Likely benign rs374155092 GRCh37 Chromosome 9, 98242816: 98242816
31 PTCH1 NM_000264.4(PTCH1): c.801G> A (p.Glu267=) single nucleotide variant Likely benign rs374155092 GRCh38 Chromosome 9, 95480534: 95480534
32 PTCH1 NM_000264.4(PTCH1): c.884C> T (p.Pro295Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs370755364 GRCh37 Chromosome 9, 98242733: 98242733
33 PTCH1 NM_000264.4(PTCH1): c.884C> T (p.Pro295Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs370755364 GRCh38 Chromosome 9, 95480451: 95480451
34 PTCH1 NM_000264.4(PTCH1): c.3422C> T (p.Ala1141Val) single nucleotide variant Uncertain significance rs376844749 GRCh37 Chromosome 9, 98215787: 98215787
35 PTCH1 NM_000264.4(PTCH1): c.3422C> T (p.Ala1141Val) single nucleotide variant Uncertain significance rs376844749 GRCh38 Chromosome 9, 95453505: 95453505
36 PTCH1 NM_000264.4(PTCH1): c.2945G> A (p.Arg982Gln) single nucleotide variant Uncertain significance rs145924695 GRCh37 Chromosome 9, 98220518: 98220518
37 PTCH1 NM_000264.4(PTCH1): c.2945G> A (p.Arg982Gln) single nucleotide variant Uncertain significance rs145924695 GRCh38 Chromosome 9, 95458236: 95458236
38 PTCH1 NM_000264.4(PTCH1): c.1234G> T (p.Ala412Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs370354759 GRCh37 Chromosome 9, 98240450: 98240450
39 PTCH1 NM_000264.4(PTCH1): c.1234G> T (p.Ala412Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs370354759 GRCh38 Chromosome 9, 95478168: 95478168
40 PTCH1 NM_000264.3(PTCH1): c.395-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs368869806 GRCh37 Chromosome 9, 98248157: 98248157
41 PTCH1 NM_000264.3(PTCH1): c.395-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs368869806 GRCh38 Chromosome 9, 95485875: 95485875
42 PTCH1 NM_000264.4(PTCH1): c.2680G> A (p.Asp894Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs56173896 GRCh37 Chromosome 9, 98224161: 98224161
43 PTCH1 NM_000264.4(PTCH1): c.2680G> A (p.Asp894Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs56173896 GRCh38 Chromosome 9, 95461879: 95461879
44 PTCH1 NM_000264.4(PTCH1): c.2105C> G (p.Pro702Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368362152 GRCh37 Chromosome 9, 98231178: 98231178
45 PTCH1 NM_000264.4(PTCH1): c.2105C> G (p.Pro702Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368362152 GRCh38 Chromosome 9, 95468896: 95468896
46 PTCH1 NM_000264.4(PTCH1): c.3960A> G (p.Arg1320=) single nucleotide variant Uncertain significance rs371761874 GRCh37 Chromosome 9, 98209578: 98209578
47 PTCH1 NM_000264.4(PTCH1): c.3960A> G (p.Arg1320=) single nucleotide variant Uncertain significance rs371761874 GRCh38 Chromosome 9, 95447296: 95447296
48 PTCH1 NM_000264.4(PTCH1): c.3575G> T (p.Arg1192Leu) single nucleotide variant Uncertain significance rs762040036 GRCh38 Chromosome 9, 95449298: 95449298
49 PTCH1 NM_000264.4(PTCH1): c.3573C> T (p.Asn1191=) single nucleotide variant Likely benign rs773389781 GRCh37 Chromosome 9, 98211582: 98211582
50 PTCH1 NM_000264.4(PTCH1): c.3573C> T (p.Asn1191=) single nucleotide variant Likely benign rs773389781 GRCh38 Chromosome 9, 95449300: 95449300

Cosmic variations for Basal Cell Nevus Syndrome:

9 (show top 50) (show all 927)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM44126 TP53 skin,eye,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 28
2 COSM43583 TP53 skin,eye,carcinoma,basal cell carcinoma c.425C>T p.P142L 17:7675187-7675187 28
3 COSM17602 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1922C>T p.P641L 9:95469079-95469079 28
4 COSM17597 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1977G>A p.Q659Q 9:95469024-95469024 28
5 COSM144245 PTCH1 skin,eye,carcinoma,basal cell carcinoma c.1585A>T p.K529* 9:95476776-95476776 28
6 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 27
7 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 27
8 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 27
9 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 27
10 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 27
11 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 27
12 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 27
13 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 27
14 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 27
15 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 27
16 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 27
17 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 27
18 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 27
19 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 17:7674220-7674220 27
20 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 27
21 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 27
22 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 27
23 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 27
24 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 27
25 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 27
26 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 27
27 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 17:7674866-7674866 27
28 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 27
29 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 27
30 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 27
31 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 27
32 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 17:7675993-7675993 27
33 COSM43714 TP53 skin,NS,carcinoma,basal cell carcinoma c.836G>A p.G279E 17:7673784-7673784 27
34 COSM44552 TP53 skin,NS,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 27
35 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 27
36 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 27
37 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 27
38 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 27
39 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 27
40 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 27
41 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 27
42 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 27
43 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 27
44 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 27
45 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 27
46 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 27
47 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 27
48 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 27
49 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 27
50 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 27

Copy number variations for Basal Cell Nevus Syndrome from CNVD:

7
# 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 KEGG:

37
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340
2 Pathways in cancer hsa05200
3 Basal cell carcinoma hsa05217

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 DHH GAS1 GLI1 GLI2 GLI3 KIF7
2
Show member pathways
13.37 DHH GAS1 GLI1 PTCH1 PTCH2 ROR2
3
Show member pathways
12.9 DHH GLI1 GLI2 GLI3 PTCH1 PTCH2
4 12.7 GLI1 GLI2 GLI3 KIF7 PTCH1 PTCH2
5
Show member pathways
12.49 DHH GAS1 GLI1 GLI2 GLI3 KIF7
6
Show member pathways
12.25 DHH PTCH1 PTCH2 SHH SMO
7 12.14 GLI1 GLI2 PTCH1 PTCH2 SHH SUFU
8
Show member pathways
11.99 GLI1 GLI2 GLI3 KIF7 PTCH1 PTCH2
9 11.88 GLI3 ROR2 SHH
10
Show member pathways
11.47 DHH GAS1 GLI1 GLI2 GLI3 KIF7
11 11.36 GLI1 GLI2 PTCH1 SHH SMO
12 11.13 GLI1 GLI2 SHH
13
Show member pathways
10.98 DHH GAS1 GLI2 PTCH1 PTCH2 SHH
14 10.49 GLI3 SHH
15 10.43 PTCH1 SHH

GO Terms for Basal Cell Nevus Syndrome

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

# 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 79)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of canonical Wnt signaling pathway GO:0090090 9.96 GLI1 GLI3 ROR2 SHH
2 anterior/posterior pattern specification GO:0009952 9.95 GLI2 GLI3 SHH SMO
3 skeletal system development GO:0001501 9.93 GLI2 ROR2 SUFU
4 central nervous system development GO:0007417 9.92 GLI3 SHH SMO
5 kidney development GO:0001822 9.92 GLI2 GLI3 SHH
6 lung development GO:0030324 9.92 GLI1 GLI2 GLI3 SHH
7 osteoblast differentiation GO:0001649 9.91 GLI1 GLI2 SMO
8 canonical Wnt signaling pathway GO:0060070 9.9 GLI1 PORCN SHH
9 embryonic digit morphogenesis GO:0042733 9.9 GLI2 GLI3 ROR2 SHH
10 determination of left/right symmetry GO:0007368 9.89 SHH SMO SUFU
11 cell fate commitment GO:0045165 9.89 GAS1 ROR2 SHH
12 odontogenesis of dentin-containing tooth GO:0042475 9.89 GLI2 GLI3 SHH SMO
13 heart looping GO:0001947 9.88 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 branching involved in ureteric bud morphogenesis GO:0001658 9.87 GLI3 PTCH1 SHH
17 skin development GO:0043588 9.87 PTCH2 SHH SUFU
18 positive regulation of smoothened signaling pathway GO:0045880 9.87 GLI1 KIF7 SHH SMO
19 liver regeneration GO:0097421 9.86 GLI1 GLI3 PTCH1
20 pattern specification process GO:0007389 9.85 GLI2 GLI3 PTCH1 SHH SMO
21 mammary gland development GO:0030879 9.84 GLI2 GLI3 PTCH1
22 regulation of smoothened signaling pathway GO:0008589 9.84 GAS1 GLI1 GLI2 PTCH1
23 positive regulation of protein import into nucleus GO:0042307 9.83 GLI3 SHH SMO
24 branching morphogenesis of an epithelial tube GO:0048754 9.83 GLI2 GLI3 SHH
25 spinal cord motor neuron differentiation GO:0021522 9.83 GLI2 GLI3 PTCH1 SHH
26 anatomical structure development GO:0048856 9.82 GLI2 GLI3 SHH
27 proximal/distal pattern formation GO:0009954 9.81 GLI1 GLI2 GLI3
28 anatomical structure formation involved in morphogenesis GO:0048646 9.81 GLI2 GLI3 SHH
29 renal system development GO:0072001 9.8 PTCH1 SHH SMO
30 positive regulation of neuroblast proliferation GO:0002052 9.79 GLI3 SHH SMO
31 somite development GO:0061053 9.79 PTCH1 SHH SMO
32 developmental growth GO:0048589 9.77 GAS1 GLI2 GLI3 SHH SMO
33 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.76 GLI2 GLI3 PTCH1
34 hair follicle morphogenesis GO:0031069 9.75 SHH SMO
35 limb morphogenesis GO:0035108 9.75 GLI3 PTCH1
36 hindbrain development GO:0030902 9.75 GLI2 SHH
37 cell fate specification GO:0001708 9.75 SHH SMO
38 male genitalia development GO:0030539 9.75 ROR2 SHH
39 osteoblast development GO:0002076 9.75 GLI2 SHH
40 cell fate determination GO:0001709 9.74 PTCH1 PTCH2
41 embryonic digestive tract development GO:0048566 9.74 GLI2 GLI3
42 embryonic digestive tract morphogenesis GO:0048557 9.74 GLI3 SHH
43 cellular response to cholesterol GO:0071397 9.74 PTCH1 SMO
44 embryonic morphogenesis GO:0048598 9.74 GLI3 SHH
45 digestive tract morphogenesis GO:0048546 9.74 GLI1 SHH
46 mammary gland epithelial cell differentiation GO:0060644 9.73 PTCH1 SMO
47 thalamus development GO:0021794 9.73 SHH SMO
48 commissural neuron axon guidance GO:0071679 9.73 PTCH1 SMO
49 negative thymic T cell selection GO:0045060 9.73 GLI3 SHH
50 cerebellar cortex morphogenesis GO:0021696 9.73 GLI1 GLI2 SMO

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

# 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 8.92 DHH PTCH1 SHH SMO

Sources for Basal Cell Nevus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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