MCID: BSL036
MIFTS: 67

Basal Cell Nevus Syndrome

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

Aliases & Classifications for Basal Cell Nevus Syndrome

MalaCards integrated aliases for Basal Cell Nevus Syndrome:

Name: Basal Cell Nevus Syndrome 54 12 23 50 24 25 56 71 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 71
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies 50
Gorlin Syndrome or Gorlin-Goltz Syndrome 71
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;

OMIM:

54
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:

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:



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 scoliosis, strabismus 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 ERK Signaling. 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 Decreased viability and craniofacial

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 : 71 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 : 72 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 66)
id Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 1 32.0 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 meier-gorlin syndrome 7 12.1
9 lopes gorlin syndrome 11.8
10 meier-gorlin syndrome 8 11.7
11 focal dermal hypoplasia 11.5
12 homocystinuria due to defect in methylation cbl g 10.6 GLI2 PTCH1
13 camptocormism 10.6 GLI2 PTCH1
14 pneumonia 10.5 GLI1 SHH
15 thrombophlebitis 10.4 GLI2 PTCH1 SUFU
16 tarp syndrome 10.4 PORCN PTCH1
17 macular dystrophy, patterned, 3 10.4 GLI2 PTCH1 SHH
18 alopecia areata 1 10.4 GLI3 SHH
19 c5 deficiency 10.3 GLI1 GLI2 SHH
20 hydrocephalus 10.3 GLI2 PTCH1 SHH
21 gnas hyperfunction 10.3 GLI2 GLI3
22 bone squamous cell carcinoma 10.3 GLI1 PTCH1 SMO
23 basal cell carcinoma 10.3
24 epilepsy, juvenile myoclonic 9 10.3 PTCH1 SHH
25 pallister-hall syndrome 10.2 GLI2 GLI3
26 childhood medulloblastoma 10.2 GLI1 PTCH1 SHH SUFU
27 sporadic pheochromocytoma 10.2 GAS1 GLI2 PTCH1 SHH
28 functional colonic disease 10.2 GLI1 GLI2 PTCH1 SUFU
29 celosomia 10.2 GAS1 GLI2 PTCH1 SHH
30 imperforate anus 10.2 GLI2 GLI3 SHH
31 nodular goiter 10.2 GLI3 PTCH1 SHH
32 laryngotracheoesophageal cleft type 2 10.2 GAS1 GLI2 PTCH1 SHH
33 laryngotracheoesophageal cleft type 4 10.2 GAS1 GLI2 PTCH1 SHH
34 isolated facial myokymia 10.2 GAS1 GLI2 PTCH1 SHH
35 horner's syndrome 10.1 GLI2 GLI3 SHH
36 hypomagnesemia 1, intestinal 10.0 FANCC PTCH1 XPA
37 y-linked disease 10.0 NF1 PTCH1 SHH
38 pelizaeus-merzbacher disease in female carriers 10.0 GAS1 GLI2 PTCH1 SHH SUFU
39 medulloblastoma 10.0
40 sugarman brachydactyly 9.9 GLI3 XPA
41 oral antidiabetic drugs toxicity or dose selection 9.9 GLI1 PTCH1 SHH SMO SUFU
42 dysplastic nevus syndrome 9.9
43 small cell sarcoma 9.8 GLI1 NF1 PTCH1 SHH
44 lymphoplasmacytic lymphoma 9.8 NF1 PTCH1 XPA
45 polydactyly, preaxial, type iv 9.7 GAS1 GLI1 GLI2 GLI3 SHH
46 inflammatory bowel disease 9.7
47 squamous cell carcinoma 9.7
48 muckle-wells syndrome 9.7
49 endometrial adenocarcinoma 9.7
50 adenocarcinoma 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 via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
kyphoscoliosis
abnormal cervical vertebrae

Head And Neck- Eyes:
strabismus
hypertelorism
glaucoma
lateral displacement of the inner canthi
subconjunctival epithelial cysts
more
Head And Neck- Mouth:
cleft palate
cleft lip

Cardiovascular- Heart:
cardiac fibroma

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

Genitourinary- Internal Genitalia Female:
ovarian fibromata
ovarian carcinoma

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

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

Head And Neck- Nose:
broad nasal root

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

Respiratory- Lung:
congenital lung cyst

Abdomen- Gastroin testinal:
lymphomesenteric cysts, often calcified
hamartomatous stomach polyps

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


Clinical features from OMIM:

109400

Human phenotypes related to Basal Cell Nevus Syndrome:

56 32 (show top 50) (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
2 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
3 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
4 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
5 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
6 frontal bossing 56 32 occasional (7.5%) Occasional (29-5%) HP:0002007
7 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
8 hemivertebrae 56 32 occasional (7.5%) Occasional (29-5%) HP:0002937
9 iris coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000612
10 telecanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000506
11 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
12 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
13 wide nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0000431
14 brachycephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000248
15 arachnodactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001166
16 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
17 cerebral calcification 56 32 hallmark (90%) Very frequent (99-80%) HP:0002514
18 carious teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000670
19 palmar pits 56 32 hallmark (90%) Very frequent (99-80%) HP:0010610
20 plantar pits 56 32 hallmark (90%) Very frequent (99-80%) HP:0010612
21 vertebral fusion 56 32 frequent (33%) Frequent (79-30%) HP:0002948
22 vertebral wedging 56 32 frequent (33%) Frequent (79-30%) HP:0008422
23 hypogonadotrophic hypogonadism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000044
24 mandibular prognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000303
25 neoplasm 56 32 hallmark (90%) Very frequent (99-80%) HP:0002664
26 melanocytic nevus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000995
27 abnormality of the neck 56 32 frequent (33%) Frequent (79-30%) HP:0000464
28 abnormality of the sense of smell 56 32 occasional (7.5%) Occasional (29-5%) HP:0004408
29 brachydactyly 32 frequent (33%) HP:0001156
30 coarse facial features 32 HP:0000280
31 cleft palate 32 HP:0000175
32 kyphoscoliosis 32 HP:0002751
33 microphthalmia 32 HP:0000568
34 short ribs 32 HP:0000773
35 cardiac fibroma 32 HP:0010617
36 bifid ribs 32 HP:0000892
37 hamartomatous stomach polyps 32 HP:0004795
38 short 4th metacarpal 32 HP:0010044
39 basal cell carcinoma 32 HP:0002671
40 medulloblastoma 32 HP:0002885
41 macrocephaly 32 HP:0000256
42 motor delay 32 HP:0001270
43 spina bifida 32 HP:0002414
44 calcification of falx cerebri 32 HP:0005462
45 milia 32 HP:0001056
46 supernumerary ribs 32 HP:0005815
47 sprengel anomaly 32 HP:0000912
48 polydactyly 32 HP:0010442
49 parietal bossing 32 HP:0000242
50 skin tags 32 HP:0010609

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.9 PTCH2
2 Decreased viability GR00221-A-1 9.9 PTCH2 BMPR1A GLI2 NF1
3 Decreased viability GR00221-A-2 9.9 PTCH2 ROR2 BMPR1A GLI2 NF1
4 Decreased viability GR00221-A-3 9.9 PTCH2 ROR2 BMPR1A SHH
5 Decreased viability GR00221-A-4 9.9 PTCH2 ROR2 BMPR1A NF1
6 Decreased viability GR00231-A 9.9 ROR2
7 Decreased viability GR00301-A 9.9 PTCH2
8 Decreased viability GR00342-S-1 9.9 ROR2
9 Decreased viability GR00342-S-3 9.9 ROR2
10 Decreased ionizing radiation sensitivity GR00232-A-1 9.56 FBXL17 GLI2 GLI3 NF1 PTCH1 PTCH2

MGI Mouse Phenotypes related to Basal Cell Nevus Syndrome:

44 (show all 22)
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.4 BMPR1A GAS1 GLI1 GLI2 GLI3 NF1
2 cellular MP:0005384 10.38 BMPR1A FANCC GAS1 GLI1 GLI2 GLI3
3 growth/size/body region MP:0005378 10.37 GLI3 NF1 PORCN PTCH1 ROR2 SHH
4 embryo MP:0005380 10.35 PTCH1 ROR2 SHH SMO SUFU BMPR1A
5 digestive/alimentary MP:0005381 10.32 GLI1 GLI2 GLI3 NF1 PORCN PTCH1
6 limbs/digits/tail MP:0005371 10.32 GLI3 NF1 PORCN PTCH1 ROR2 SHH
7 endocrine/exocrine gland MP:0005379 10.31 BMPR1A FANCC GLI1 GLI2 GLI3 NF1
8 mortality/aging MP:0010768 10.31 PTCH1 ROR2 SHH SMO SUFU XPA
9 cardiovascular system MP:0005385 10.3 BMPR1A GAS1 GLI3 NF1 PTCH1 PTCH2
10 homeostasis/metabolism MP:0005376 10.28 BMPR1A GAS1 GLI2 GLI3 NF1 PTCH1
11 nervous system MP:0003631 10.28 GAS1 GLI1 GLI2 GLI3 NF1 PORCN
12 integument MP:0010771 10.22 BMPR1A GLI2 GLI3 NF1 PORCN PTCH1
13 hearing/vestibular/ear MP:0005377 10.15 BMPR1A GAS1 GLI2 GLI3 NF1 ROR2
14 normal MP:0002873 10.11 GLI1 GLI2 GLI3 NF1 PORCN PTCH1
15 muscle MP:0005369 10.08 BMPR1A GLI2 NF1 PTCH1 PTCH2 SHH
16 neoplasm MP:0002006 10.06 BMPR1A GLI1 NF1 PTCH1 PTCH2 SHH
17 reproductive system MP:0005389 10 BMPR1A FANCC GLI1 GLI2 GLI3 PORCN
18 no phenotypic analysis MP:0003012 9.95 BMPR1A GLI1 GLI2 GLI3 PTCH1 SHH
19 respiratory system MP:0005388 9.9 NF1 PTCH1 ROR2 SHH SMO SUFU
20 pigmentation MP:0001186 9.87 XPA BMPR1A GAS1 GLI3 NF1 PTCH1
21 skeleton MP:0005390 9.77 BMPR1A FANCC GAS1 GLI2 GLI3 NF1
22 vision/eye MP:0005391 9.36 BMPR1A GAS1 GLI2 GLI3 NF1 PTCH1

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
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
9
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
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 Interferon-gamma Phase 1, Phase 2
31 interferons Phase 1, Phase 2
32 Cytochrome P-450 CYP3A Inhibitors Phase 2
33 Cytochrome P-450 Enzyme Inhibitors Phase 2
34 Hormone Antagonists Phase 2
35 Hormones Phase 2
36 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
37 Hydroxyitraconazole Phase 2
38 Steroid Synthesis Inhibitors 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 31)

id Name Status NCT ID Phase Drugs
1 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
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 LDE225B;Vehicle
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 tazarotene
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 patidegib;vehicle gel
5 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Face Completed NCT00489086 Phase 2 tazarotene
6 To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2 GDC-0449
7 Celecoxib in Preventing Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Completed NCT00023621 Phase 2 celecoxib
8 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
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 Vehicle;LDE225 0.25%;LDE225 0.75%
10 Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Completed NCT01350115 Phase 2 LDE225;Placebo
11 A Study of Two Vismodegib Regimens in Participants With Multiple Basal Cell Carcinomas Completed NCT01815840 Phase 2 Vismodegib;Placebo
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 5-FU
13 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 aminolevulinic acid hydrochloride;photodynamic therapy;photodynamic therapy
14 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
15 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 Active, not recruiting NCT02828111 Phase 2 patidegib gel 2% - cohort 1;patidegib gel 4% - cohort 2;Vehicle - cohort 1;patidegib gel 2% - cohort 3;patidegib gel 4% - cohort 4;vehicle - cohort 2;Vehicle - cohort 3;Vehicle - cohort 4
16 Study of ASN-002 to Treat Basal Cell Carcinomas (BCCs) in Individuals With Basal Cell Nevus Syndrome (BCNS) Not yet recruiting NCT03208296 Phase 1, Phase 2
17 Topical Sirolimus in Patients With Basal Cell Nevus Syndrome and in Healthy Participants Completed NCT00433485 Phase 1 sirolimus
18 Development of a Nanosecond Pulsed Electric Field System to Treat Skin Cancer Completed NCT01463709 Phase 1
19 Photodynamic Therapy and Vismodegib for Multiple Basal Cell Carcinomas Recruiting NCT02639117 Phase 1 Vismodegib
20 Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus Syndrome Completed NCT02157623 Levulan
21 Study of BMS-833923 in Two Specific Patients With Basal Cell Nevus Syndrome Completed NCT02100371 BMS-833923
22 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
23 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
24 Isotretinoin in Preventing Skin Cancer Completed NCT00025012 isotretinoin
25 Levocarnitine in Treating Patients With Vismodegib-Associated Muscle Spasms Completed NCT01893892
26 A Clinical Trial of Dermacorder for Detecting Malignant Skin Lesions Completed NCT01014819
27 An Analysis of Treatment Patterns and Outcomes for Basal Cell Carcinoma (BCC) Cancer Participants Completed NCT02100111
28 A Study to Assess the Effectiveness and Safety of Vismodegib (Erivedge®) in Participants With Advanced Basal Cell Carcinoma (BCC) Recruiting NCT02371967 Vismodegib
29 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
30 Sonidegib and Buparlisib in Treating Patients With Advanced or Metastatic Basal Cell Carcinoma Active, not recruiting NCT02303041 Buparlisib;Sonidegib
31 An Observational Study of Treatment Patterns and Effectiveness and Safety Outcomes in Advanced Basal Cell Carcinoma and Basal Cell Carcinoma Nevus Syndrome Patients(RegiSONIC) Terminated 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, Lung, Testes

Publications for Basal Cell Nevus Syndrome

Articles related to Basal Cell Nevus Syndrome:

(show top 50) (show all 55)
id Title Authors Year
1
Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment. ( 28951717 )
2017
2
Muckle-Wells syndrome in the setting of basal cell nevus syndrome. ( 28686751 )
2017
3
Segmental Basal cell nevus syndrome caused by an activating mutation in Smoothened. ( 26822128 )
2016
4
AKT1 Activation is Obligatory for Spontaneous BCC Tumor Growth in a Murine Model That Mimics Some Features of Basal Cell Nevus Syndrome. ( 27388747 )
2016
5
Risk Factors for Basal Cell Carcinoma Among Patients With Basal Cell Nevus Syndrome: Development of a Basal Cell Nevus Syndrome Patient Registry. ( 27902821 )
2016
6
Hedgehog pathway inhibitor therapy in basal-cell nevus syndrome. ( 27838223 )
2016
7
BASAL CELL NEVUS SYNDROME PRESENTING AS EPIRETINAL MEMBRANE AND MYELINATED NERVE FIBER LAYER. ( 27533646 )
2016
8
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
9
Intermittent Vismodegib Therapy in Basal Cell Nevus Syndrome. ( 26509945 )
2015
10
Basal cell nevus syndrome or Gorlin syndrome. ( 26564075 )
2015
11
Dermoscopy for Identification of Basal Cell Carcinomas in Basal Cell Nevus Syndrome During Carbon Dioxide Laser Surgery. ( 26572667 )
2015
12
Basal Cell Nevus Syndrome: An Update on Genetics and Treatment. ( 26409035 )
2015
13
Basal cell nevus syndrome: clinical and molecular review and case report. ( 26356331 )
2015
14
Hedgehog Pathway Inhibition for Locally Advanced Periocular Basal Cell Carcinoma and Basal Cell Nevus Syndrome. ( 25935097 )
2015
15
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
16
Sonic hedgehog signaling in Basal cell nevus syndrome. ( 25172843 )
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
The use of vismodegib to shrink keratocystic odontogenic tumors in patients with basal cell nevus syndrome. ( 24623282 )
2014
19
Squamous cell carcinoma of the maxilla in a patient with basal cell nevus syndrome. ( 24621716 )
2014
20
Comment on basal cell carcinoma rebound after cessation of vismodegib in an individual with basal cell nevus syndrome. ( 23682843 )
2013
21
Meningeal calcification in basal cell nevus syndrome. ( 24287476 )
2013
22
"PTCH"-ing it together: a basal cell nevus syndrome review. ( 23725561 )
2013
23
The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects. ( 23897749 )
2013
24
Basal cell nevus syndrome: a rare entity. ( 22960843 )
2012
25
Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome. ( 22670904 )
2012
26
Retraction: Basal cell nevus syndrome showing several histologic types of basal cell carcinoma. ( 22577287 )
2012
27
A novel phenotype with features of basal cell nevus syndrome and basaloid follicular hamartoma syndrome. ( 21679799 )
2011
28
Long-term safety, tolerability, and efficacy of vismodegib in two patients with metastatic basal cell carcinoma and basal cell nevus syndrome. ( 25386306 )
2011
29
Conjunctival ganglioglioma as a feature of basal cell nevus syndrome. ( 21907124 )
2011
30
Basal cell nevus syndrome showing several histologic types of Basal cell carcinoma. ( 22028568 )
2011
31
Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome. ( 20489535 )
2010
32
Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. ( 19557015 )
2009
33
Recurrent petrous apex cholesteatoma in a patient with basal cell nevus syndrome. ( 18722240 )
2008
34
Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree. ( 16733713 )
2006
35
Review of patients with basal cell nevus syndrome. ( 16855496 )
2006
36
Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. ( 17021131 )
2006
37
Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome. ( 16227103 )
2005
38
Basal cell nevus syndrome. ( 15725922 )
2005
39
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. ( 15690381 )
2005
40
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
41
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
42
Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome. ( 11896785 )
2002
43
Novel mutations in the PATCHED gene in basal cell nevus syndrome. ( 12175781 )
2002
44
A novel polymorphism in the PTC gene allows easy identification of allelic loss in basal cell nevus syndrome lesions. ( 11277394 )
2001
45
A mouse model for medulloblastoma and basal cell nevus syndrome. ( 11718263 )
2001
46
Allelic loss at the PTCH gene locus in jaw cysts but not in palmar pits in patients with basal cell nevus syndrome. ( 11000293 )
2000
47
Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. ( 9620294 )
1998
48
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
49
The occurrence of endometrial adenocarcinoma in a patient with basal cell nevus syndrome. ( 9264223 )
1997
50
Human homolog of patched, a candidate gene for the basal cell nevus syndrome. ( 8658145 )
1996

Variations for Basal Cell Nevus Syndrome

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

71
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 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 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.1172_1173delCT (p.Ser391Terfs) deletion Pathogenic/Likely pathogenic rs56126236 GRCh37 Chromosome 1, 45295116: 45295117
3 PTCH2 NM_001166292.1(PTCH2): c.2156G> A (p.Arg719Gln) single nucleotide variant Pathogenic rs121434397 GRCh37 Chromosome 1, 45293289: 45293289
4 PTCH1 PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INS insertion Pathogenic
5 PTCH1 PTCH1, 11-BP DEL, NT2442 deletion Pathogenic
6 PTCH1 NM_000264.3(PTCH1): c.1081C> T (p.Gln361Ter) single nucleotide variant Pathogenic rs199476090 GRCh37 Chromosome 9, 98241416: 98241416
7 PTCH1 PTCH1, 37-BP DEL, NT808 deletion Pathogenic
8 PTCH1 PTCH1, 1148G-A single nucleotide variant Pathogenic
9 PTCH1 PTCH1, 2-BP INS, 2047CT insertion Pathogenic
10 PTCH1 PTCH1, 1-BP INS, 2000C insertion Pathogenic
11 PTCH1 PTCH1, 1-BP DEL, 2583C deletion Pathogenic
12 PTCH1 PTCH1, 1-BP INS, 1247T insertion Pathogenic
13 PTCH1 PTCH1, TRP129TER single nucleotide variant Pathogenic
14 PTCH1 NM_000264.3(PTCH1): c.395-1G> A single nucleotide variant Likely pathogenic rs368869806 GRCh37 Chromosome 9, 98248157: 98248157
15 PTCH1 NM_000264.3(PTCH1): c.3168+2T> C single nucleotide variant Pathogenic rs786204056 GRCh37 Chromosome 9, 98220293: 98220293
16 PTCH1 NM_000264.3(PTCH1): c.343G> T (p.Gly115Ter) single nucleotide variant Pathogenic rs794727242 GRCh37 Chromosome 9, 98268740: 98268740
17 PTCH1 NM_000264.3(PTCH1): c.3450-2A> G single nucleotide variant Likely pathogenic rs863224443 GRCh37 Chromosome 9, 98212224: 98212224
18 PTCH1 NM_000264.3(PTCH1): c.3449+1G> A single nucleotide variant Likely pathogenic rs863224442 GRCh38 Chromosome 9, 95453477: 95453477
19 PTCH1 NM_000264.3(PTCH1): c.2842_2849delTGGGTCCA (p.Trp948Argfs) deletion Pathogenic rs863224485 GRCh38 Chromosome 9, 95459638: 95459645
20 PTCH1 NM_000264.3(PTCH1): c.2799delG (p.Tyr934Metfs) deletion Pathogenic rs863224484 GRCh38 Chromosome 9, 95459688: 95459688
21 PTCH1 NM_000264.3(PTCH1): c.945+1G> A single nucleotide variant Pathogenic rs863224444 GRCh38 Chromosome 9, 95480389: 95480389
22 PTCH1 NM_000264.3(PTCH1): c.666T> A (p.Tyr222Ter) single nucleotide variant Pathogenic rs863224487 GRCh38 Chromosome 9, 95482029: 95482029
23 PTCH1 NM_000264.3(PTCH1): c.612C> G (p.Tyr204Ter) single nucleotide variant Pathogenic rs863224486 GRCh38 Chromosome 9, 95482176: 95482176
24 PTCH1 NM_000264.3(PTCH1): c.1591_1601delATCCCTTTTGA (p.Ile531Glyfs) deletion Pathogenic rs863225055 GRCh38 Chromosome 9, 95476760: 95476770
25 PTCH1 NM_000264.3(PTCH1): c.1502A> G (p.Gln501Arg) single nucleotide variant Pathogenic rs863225054 GRCh38 Chromosome 9, 95477548: 95477548
26 PTCH1 GRCh37/hg19 9q22.32(chr9: 98207091-98210940)x1 copy number loss Pathogenic GRCh37 Chromosome 9, 98207091: 98210940
27 subset of 12 genes:PTCH1 GRCh37/hg19 9q22.32(97579146-99280739)x1 copy number loss Pathogenic GRCh37 Chromosome 9, 97579146: 99280739
28 PTCH1 NM_000264.3(PTCH1): c.2539_2542delTACTinsAG (p.Tyr847Serfs) indel Pathogenic rs863225467 GRCh37 Chromosome 9, 98229416: 98229419
29 PTCH1 NM_000264.3(PTCH1): c.1503+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs864622293 GRCh38 Chromosome 9, 95477546: 95477546
30 PTCH1 NM_000264.3(PTCH1): c.1329delC (p.Ser444Alafs) deletion Pathogenic rs864622374 GRCh38 Chromosome 9, 95478073: 95478073
31 PTCH1 NM_000264.3(PTCH1): c.270_304del35 (p.Tyr93Glyfs) deletion Pathogenic rs864622583 GRCh37 Chromosome 9, 98268779: 98268813
32 PTCH1 NM_000264.3(PTCH1): c.258_259delCT (p.Leu87Ilefs) deletion Pathogenic rs864622212 GRCh37 Chromosome 9, 98268824: 98268825
33 PTCH1 NM_000264.3(PTCH1): c.3394T> C (p.Ser1132Pro) single nucleotide variant Likely pathogenic rs878853856 GRCh37 Chromosome 9, 98215815: 98215815
34 PTCH1 NM_000264.3(PTCH1): c.2561-2A> T single nucleotide variant Likely pathogenic rs878853852 GRCh37 Chromosome 9, 98224282: 98224282
35 PTCH1 NM_000264.3(PTCH1): c.2391C> A (p.Tyr797Ter) single nucleotide variant Pathogenic rs778260156 GRCh38 Chromosome 9, 95467285: 95467285
36 PTCH1 NM_000264.3(PTCH1): c.1615delG (p.Glu539Serfs) deletion Pathogenic rs878853847 GRCh37 Chromosome 9, 98238429: 98238429
37 PTCH1 NM_000264.3(PTCH1): c.202-2A> G single nucleotide variant Likely pathogenic rs878853849 GRCh37 Chromosome 9, 98268883: 98268883
38 PTCH1 NM_001083602.1(PTCH1): c.1813dupC (p.His605Profs) duplication Pathogenic rs886043550 GRCh37 Chromosome 9, 98231272: 98231272
39 PTCH1 NM_000264.3(PTCH1): c.114delG (p.Leu39Cysfs) deletion Pathogenic rs1057518664 GRCh38 Chromosome 9, 95508248: 95508248
40 PTCH1 NC_000009.12: g.(?_95442982)_(95508549_?)del deletion Pathogenic GRCh37 Chromosome 9, 98205264: 98270831
41 PTCH1 NC_000009.12: g.(?_95467116)_(95469931_?)del deletion Pathogenic GRCh37 Chromosome 9, 98229398: 98232213
42 PTCH1 NM_000264.3(PTCH1): c.3460delG (p.Ala1154Leufs) deletion Pathogenic rs1060502264 GRCh38 Chromosome 9, 95449930: 95449930
43 PTCH1 NM_000264.3(PTCH1): c.3152G> A (p.Trp1051Ter) single nucleotide variant Pathogenic rs1060502301 GRCh38 Chromosome 9, 95458029: 95458029
44 PTCH1 NM_000264.3(PTCH1): c.1602+1G> T single nucleotide variant Likely pathogenic rs1060502277 GRCh38 Chromosome 9, 95476758: 95476758
45 PTCH1 NM_000264.3(PTCH1): c.1155delC (p.Asn386Thrfs) deletion Pathogenic rs1060502297 GRCh38 Chromosome 9, 95479060: 95479060
46 PTCH1 NM_000264.3(PTCH1): c.2308C> T (p.Arg770Ter) single nucleotide variant Pathogenic rs766313615 GRCh38 Chromosome 9, 95467368: 95467368
47 PTCH1 NM_000264.3(PTCH1): c.1882C> T (p.Gln628Ter) single nucleotide variant Pathogenic rs1060502274 GRCh38 Chromosome 9, 95469119: 95469119
48 PTCH1 NM_000264.3(PTCH1): c.1208_1209delAT (p.Tyr403Cysfs) deletion Pathogenic rs1060502286 GRCh38 Chromosome 9, 95479006: 95479007
49 PTCH1 NM_000264.3(PTCH1): c.1068-2A> T single nucleotide variant Likely pathogenic rs1060502271 GRCh38 Chromosome 9, 95479149: 95479149
50 PTCH1 NM_000264.3(PTCH1): c.708G> A (p.Trp236Ter) single nucleotide variant Pathogenic rs1060502287 GRCh38 Chromosome 9, 95481987: 95481987

Cosmic variations for Basal Cell Nevus Syndrome:

9 (show top 50) (show all 226)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM44126 TP53 skin,eye,carcinoma,basal cell carcinoma c.507G>A p.M169I 24
2 COSM43583 TP53 skin,eye,carcinoma,basal cell carcinoma c.425C>T p.P142L 24
3 COSM17602 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1922C>T p.P641L 24
4 COSM144245 PTCH1 skin,eye,carcinoma,basal cell carcinoma c.1585A>T p.K529* 24
5 COSM17596 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.863G>A p.G288D 24
6 COSM17597 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1977G>A p.Q659Q 24
7 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 23
8 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 23
9 COSM43635 TP53 skin,NS,carcinoma,basal cell carcinoma c.536A>T p.H179L 23
10 COSM43920 TP53 skin,NS,carcinoma,basal cell carcinoma c.680C>T p.S227F 23
11 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 23
12 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 23
13 COSM44436 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+2T>C p.? 23
14 COSM10705 TP53 skin,NS,carcinoma,basal cell carcinoma c.586C>T p.R196* 23
15 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 23
16 COSM45734 TP53 skin,NS,carcinoma,basal cell carcinoma c.622G>T p.D208Y 23
17 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 23
18 COSM43616 TP53 skin,NS,carcinoma,basal cell carcinoma c.704A>G p.N235S 23
19 COSM43596 TP53 skin,NS,carcinoma,basal cell carcinoma c.841G>A p.D281N 23
20 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 23
21 COSM44310 TP53 skin,NS,carcinoma,basal cell carcinoma c.738G>A p.M246I 23
22 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 23
23 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 23
24 COSM11084 TP53 skin,NS,carcinoma,basal cell carcinoma c.517G>A p.V173M 23
25 COSM45138 TP53 skin,NS,carcinoma,basal cell carcinoma c.853G>C p.E285Q 23
26 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 23
27 COSM10887 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>G p.P278R 23
28 COSM44241 TP53 skin,NS,carcinoma,basal cell carcinoma c.592G>T p.E198* 23
29 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 23
30 COSM45751 TP53 skin,NS,carcinoma,basal cell carcinoma c.511G>C p.E171Q 23
31 COSM44130 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159A 23
32 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 23
33 COSM43842 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 23
34 COSM43695 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>T p.P250S 23
35 COSM11376 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 23
36 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 23
37 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 23
38 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 23
39 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 23
40 COSM10863 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 23
41 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 23
42 COSM45322 TP53 skin,NS,carcinoma,basal cell carcinoma c.757A>G p.T253A 23
43 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 23
44 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 23
45 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 23
46 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 23
47 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 23
48 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 23
49 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 23
50 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 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 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 BMPR1A GAS1 GLI1 GLI2 GLI3 NF1
2
Show member pathways
13.68 BMPR1A GAS1 GLI1 NF1 PTCH1 PTCH2
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
12.4 GAS1 GLI1 GLI2 GLI3 PTCH1 SHH
6
Show member pathways
12.25 PTCH1 PTCH2 SHH SMO
7 12.14 GLI1 GLI2 PTCH1 PTCH2 SHH SUFU
8
Show member pathways
11.96 GLI1 GLI2 GLI3 PTCH1 PTCH2 ROR2
9 11.95 BMPR1A GLI3 ROR2 SHH
10 11.5 BMPR1A GLI3 PTCH1
11
Show member pathways
11.39 GAS1 GLI1 GLI2 GLI3 PTCH1 PTCH2
12 11.31 GLI1 GLI2 PTCH1 SHH SMO
13 11.11 GLI1 GLI2 SHH
14
Show member pathways
11.11 GAS1 GLI2 PTCH1 PTCH2 SHH SMO
15 10.49 GLI3 SHH
16 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:

id Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.63 GLI1 GLI2 GLI3 PTCH1 SMO SUFU
2 axoneme GO:0005930 9.5 GLI1 GLI2 GLI3
3 caveola GO:0005901 9.43 BMPR1A PTCH1 SMO
4 ciliary base GO:0097546 9.26 GLI1 GLI2 GLI3 SUFU
5 ciliary tip GO:0097542 9.02 GLI1 GLI2 GLI3 SMO SUFU

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

(show top 50) (show all 91)
id Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.97 GLI1 GLI2 NF1 SMO
2 central nervous system development GO:0007417 9.94 GLI3 SHH SMO
3 kidney development GO:0001822 9.93 GLI2 GLI3 SHH
4 palate development GO:0060021 9.92 BMPR1A GLI3 SHH
5 determination of left/right symmetry GO:0007368 9.91 SHH SMO SUFU
6 heart looping GO:0001947 9.9 SHH SMO SUFU
7 cell fate commitment GO:0045165 9.9 GAS1 ROR2 SHH
8 embryonic limb morphogenesis GO:0030326 9.9 GLI3 PTCH1 SHH
9 heart morphogenesis GO:0003007 9.9 BMPR1A PTCH1 SMO
10 neural tube development GO:0021915 9.89 GLI2 GLI3 NF1
11 skin development GO:0043588 9.89 PTCH2 SHH SUFU
12 branching involved in ureteric bud morphogenesis GO:0001658 9.89 GLI3 PTCH1 SHH
13 embryonic digit morphogenesis GO:0042733 9.89 BMPR1A GLI2 GLI3 ROR2 SHH
14 odontogenesis of dentin-containing tooth GO:0042475 9.88 AMTN BMPR1A GLI2 GLI3 SHH SMO
15 mammary gland development GO:0030879 9.87 GLI2 GLI3 PTCH1
16 regulation of smoothened signaling pathway GO:0008589 9.87 GAS1 GLI1 GLI2 PTCH1
17 metanephros development GO:0001656 9.86 GLI3 NF1 SHH
18 protein localization to nucleus GO:0034504 9.86 SHH SMO XPA
19 pituitary gland development GO:0021983 9.86 BMPR1A GLI1 GLI2
20 negative regulation of smoothened signaling pathway GO:0045879 9.86 GLI3 PTCH1 PTCH2 SUFU
21 positive regulation of mesenchymal cell proliferation GO:0002053 9.85 BMPR1A SHH SMO
22 branching morphogenesis of an epithelial tube GO:0048754 9.85 GLI2 GLI3 SHH
23 positive regulation of smoothened signaling pathway GO:0045880 9.85 GLI1 SHH SMO
24 embryonic organ development GO:0048568 9.85 BMPR1A GLI3 PTCH1 SHH SMO
25 proximal/distal pattern formation GO:0009954 9.84 GLI1 GLI2 GLI3
26 renal system development GO:0072001 9.83 PTCH1 SHH SMO
27 positive regulation of neuroblast proliferation GO:0002052 9.83 GLI3 SHH SMO
28 canonical Wnt signaling pathway GO:0060070 9.82 GLI1 PORCN SHH
29 positive regulation of protein import into nucleus GO:0042307 9.82 GLI3 SHH SMO
30 anatomical structure formation involved in morphogenesis GO:0048646 9.81 GLI2 GLI3 SHH
31 spinal cord motor neuron differentiation GO:0021522 9.81 GLI2 GLI3 PTCH1 SHH
32 somite development GO:0061053 9.8 PTCH1 SHH SMO
33 anatomical structure development GO:0048856 9.8 GLI2 GLI3 SHH
34 pattern specification process GO:0007389 9.8 BMPR1A GLI2 GLI3 PTCH1 SHH SMO
35 embryonic morphogenesis GO:0048598 9.79 BMPR1A GLI3 SHH
36 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.79 GLI2 GLI3 PTCH1
37 dorsal/ventral neural tube patterning GO:0021904 9.78 GLI2 PTCH1 SHH SMO
38 limb morphogenesis GO:0035108 9.77 GLI3 PTCH1
39 camera-type eye morphogenesis GO:0048593 9.77 GLI3 NF1
40 hindbrain development GO:0030902 9.77 GLI2 SHH
41 cerebellar cortex morphogenesis GO:0021696 9.77 GLI1 GLI2 SMO
42 embryonic digestive tract morphogenesis GO:0048557 9.76 GLI3 SHH
43 male genitalia development GO:0030539 9.76 ROR2 SHH
44 embryonic digestive tract development GO:0048566 9.76 GLI2 GLI3
45 cell fate determination GO:0001709 9.76 PTCH1 PTCH2
46 osteoblast development GO:0002076 9.76 GLI2 SHH
47 cell fate specification GO:0001708 9.76 SHH SMO
48 digestive tract morphogenesis GO:0048546 9.75 GLI1 SHH
49 thalamus development GO:0021794 9.75 SHH SMO
50 ectoderm development GO:0007398 9.75 BMPR1A 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 9.32 PTCH1 PTCH2
2 hedgehog receptor activity GO:0008158 9.26 PTCH1 PTCH2
3 smoothened binding GO:0005119 9.16 PTCH1 PTCH2
4 Wnt-protein binding GO:0017147 8.96 PORCN ROR2
5 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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