MCID: BSL036
MIFTS: 67

Basal Cell Nevus Syndrome

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

Aliases & Classifications for Basal Cell Nevus Syndrome

MalaCards integrated aliases for Basal Cell Nevus Syndrome:

Name: Basal Cell Nevus Syndrome 53 12 23 49 24 55 71 36 13 41 69
Nevoid Basal Cell Carcinoma Syndrome 53 12 72 23 49 24 55 51 14
Gorlin Syndrome 53 12 23 49 24 55 28
Gorlin-Goltz Syndrome 53 49 24 55
Nbccs 53 23 24 55
Bcns 53 23 24 71
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies 53 49
Nevoid Basal Cell Carcinoma Syndrome; Nbccs 53
Gorlin Syndrome or Gorlin-Goltz Syndrome 71

Characteristics:

Orphanet epidemiological data:

55
gorlin syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
paternal age effect
abnormal sensitivity to therapeutic radiation


HPO:

31
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 : 49 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 keratocystic odontogenic tumor, 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 Hedgehog signaling pathway and Pathways in cancer. 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 Decreased viability

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.

Genetics Home Reference : 24 Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors.

Wikipedia : 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 61)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 1 32.7 PTCH1 SMO
2 keratocystic odontogenic tumor 29.8 GLI1 PTCH1 SHH SMO SUFU
3 medulloblastoma 29.6 GLI1 PTCH1 PTCH2 SHH SMO SUFU
4 basal cell carcinoma 29.5 GLI1 GLI2 GLI3 PTCH1 PTCH2 SHH
5 meier-gorlin syndrome 1 12.5
6 meier-gorlin syndrome 3 12.3
7 meier-gorlin syndrome 2 12.2
8 meier-gorlin syndrome 4 12.2
9 meier-gorlin syndrome 5 12.2
10 meier-gorlin syndrome 6 12.2
11 meier-gorlin syndrome 7 12.2
12 meier-gorlin syndrome 8 12.2
13 lopes gorlin syndrome 11.9
14 focal dermal hypoplasia 11.6
15 holoprosencephaly, recurrent infections, and monocytosis 10.4 GLI2 PTCH1
16 cerebellum cancer 10.4 PTCH1 SUFU
17 calcifying epithelial odontogenic tumor 10.4 GLI2 PTCH1
18 childhood medulloblastoma 10.3 GLI2 PTCH1 SUFU
19 bardet-biedl syndrome 17 10.3 GLI2 PTCH1 SHH
20 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.2 GLI1 GLI2 SHH
21 basal cell carcinoma, multiple 10.2 PTCH1 PTCH2 SMO
22 nervous system cancer 10.2 GLI1 PTCH1 SHH
23 adult medulloblastoma 10.2 GLI1 PTCH1 SHH SUFU
24 septopreoptic holoprosencephaly 10.2 GAS1 GLI2 PTCH1 SHH
25 esophageal atresia 10.2 GLI2 GLI3 SHH
26 nodular medulloblastoma 10.2 GLI1 GLI2 PTCH1 SUFU
27 midline interhemispheric variant of holoprosencephaly 10.2 GAS1 GLI2 PTCH1 SHH
28 alobar holoprosencephaly 10.2 GAS1 GLI2 PTCH1 SHH
29 holoprosencephaly 4 10.2 GLI3 SHH
30 lobar holoprosencephaly 10.1 GAS1 GLI2 PTCH1 SHH
31 semilobar holoprosencephaly 10.1 GAS1 GLI2 PTCH1 SHH
32 ameloblastoma 10.1 GLI1 PTCH1 SMO
33 integumentary system cancer 10.1 GLI1 GLI2 PTCH1 SHH
34 multiple self-healing squamous epithelioma 10.1 FANCC PTCH1
35 brain cancer 10.1 GLI3 PTCH1 SHH
36 tracheoesophageal fistula 10.0 FANCC GLI3 SHH
37 polydactyly 10.0 GLI2 GLI3 SHH
38 microform holoprosencephaly 10.0 GAS1 GLI2 PTCH1 SHH SUFU
39 gastric squamous cell carcinoma 10.0 GLI1 SHH
40 dysplastic nevus syndrome 9.9
41 holoprosencephaly 9.9 GAS1 GLI2 GLI3 PTCH1 SHH
42 pallister-hall syndrome 9.9 GAS1 GLI1 GLI2 GLI3 SHH
43 muckle-wells syndrome 9.8
44 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
45 xeroderma pigmentosum, variant type 9.8
46 meningioma, familial 9.8
47 pseudopseudohypoparathyroidism 9.8
48 craniosynostosis 9.8
49 brachydactyly 9.8
50 inflammatory bowel disease 9.8

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:

53
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 RibsSternum 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 Gastroin testinal:
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:

55 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
2 frontal bossing 55 31 occasional (7.5%) Occasional (29-5%) HP:0002007
3 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
4 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
5 cerebral calcification 55 31 hallmark (90%) Very frequent (99-80%) HP:0002514
6 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
7 mandibular prognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000303
8 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
9 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
10 carious teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000670
11 brachycephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000248
12 neoplasm 55 31 hallmark (90%) Very frequent (99-80%) HP:0002664
13 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
14 epicanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000286
15 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
16 melanocytic nevus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000995
17 hypogonadotrophic hypogonadism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000044
18 telecanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000506
19 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
20 arachnodactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001166
21 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
22 abnormality of the neck 55 31 frequent (33%) Frequent (79-30%) HP:0000464
23 iris coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000612
24 hemivertebrae 55 31 occasional (7.5%) Occasional (29-5%) HP:0002937
25 vertebral fusion 55 31 frequent (33%) Frequent (79-30%) HP:0002948
26 abnormality of the sense of smell 55 31 occasional (7.5%) Occasional (29-5%) HP:0004408
27 vertebral wedging 55 31 frequent (33%) Frequent (79-30%) HP:0008422
28 palmar pits 55 31 hallmark (90%) Very frequent (99-80%) HP:0010610
29 plantar pits 55 31 hallmark (90%) Very frequent (99-80%) HP:0010612
30 macrocephaly 31 HP:0000256
31 coarse facial features 31 HP:0000280
32 cleft palate 31 HP:0000175
33 short 4th metacarpal 31 HP:0010044
34 sprengel anomaly 31 HP:0000912
35 microphthalmia 31 HP:0000568
36 spina bifida 31 HP:0002414
37 down-sloping shoulders 31 HP:0200021
38 cleft upper lip 31 HP:0000204
39 bifid ribs 31 HP:0000892
40 supernumerary ribs 31 HP:0005815
41 abnormality of the sternum 31 HP:0000766
42 motor delay 31 HP:0001270
43 kyphoscoliosis 31 HP:0002751
44 cardiac rhabdomyoma 31 HP:0009729
45 skin tags 31 HP:0010609
46 medulloblastoma 31 HP:0002885
47 short distal phalanx of the thumb 31 HP:0009650
48 short ribs 31 HP:0000773
49 milia 31 HP:0001056
50 basal cell carcinoma 31 HP:0002671

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.55 PTCH2
2 Decreased viability GR00221-A-1 9.55 BMPR1A PTCH2
3 Decreased viability GR00221-A-2 9.55 BMPR1A PTCH2 ROR2
4 Decreased viability GR00221-A-3 9.55 BMPR1A PTCH2 ROR2 SHH
5 Decreased viability GR00221-A-4 9.55 BMPR1A PTCH2 ROR2
6 Decreased viability GR00231-A 9.55 ROR2
7 Decreased viability GR00301-A 9.55 PTCH2
8 Decreased viability GR00342-S-1 9.55 ROR2
9 Decreased viability GR00342-S-3 9.55 ROR2

MGI Mouse Phenotypes related to Basal Cell Nevus Syndrome:

43 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.31 PORCN GLI3 PTCH1 BMPR1A GLI1 GLI2
2 embryo MP:0005380 10.29 PORCN GLI3 PTCH1 GAS1 BMPR1A GLI1
3 cellular MP:0005384 10.27 GLI3 PTCH1 GLI2 GAS1 BMPR1A GLI1
4 digestive/alimentary MP:0005381 10.26 PTCH2 PORCN GLI3 PTCH1 GLI1 GLI2
5 growth/size/body region MP:0005378 10.26 GLI3 PTCH1 GLI2 PORCN SUFU GAS1
6 cardiovascular system MP:0005385 10.24 GLI3 PTCH1 SUFU GAS1 BMPR1A ROR2
7 limbs/digits/tail MP:0005371 10.22 PORCN GLI3 PTCH1 BMPR1A GLI1 GLI2
8 nervous system MP:0003631 10.21 GLI3 PTCH1 PORCN SUFU GLI2 GAS1
9 endocrine/exocrine gland MP:0005379 10.19 GLI3 PTCH1 GLI2 PORCN BMPR1A GLI1
10 hearing/vestibular/ear MP:0005377 10.11 GLI3 PTCH1 GLI2 GAS1 BMPR1A SHH
11 integument MP:0010771 10.1 GLI3 PTCH1 GLI2 PORCN SUFU BMPR1A
12 normal MP:0002873 10.07 PORCN GLI3 PTCH1 SUFU GLI2 BMPR1A
13 reproductive system MP:0005389 9.96 GLI3 PTCH1 GLI2 PORCN BMPR1A GLI1
14 no phenotypic analysis MP:0003012 9.95 GLI3 PTCH1 GLI2 SUFU BMPR1A GLI1
15 neoplasm MP:0002006 9.93 PTCH1 SUFU BMPR1A GLI1 PTCH2 SHH
16 respiratory system MP:0005388 9.85 GLI3 PTCH1 GAS1 BMPR1A GLI1 GLI2
17 pigmentation MP:0001186 9.72 GLI3 PTCH1 SUFU GAS1 BMPR1A
18 skeleton MP:0005390 9.7 PORCN GLI3 PTCH1 SUFU GLI2 GAS1
19 vision/eye MP:0005391 9.28 GLI3 PTCH1 GLI2 SUFU GAS1 BMPR1A

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)
# 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, Investigational, 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 46835353 6436030 5284616
44 Anti-Bacterial Agents Phase 1
45 Antibiotics, Antitubercular Phase 1
46 Immunosuppressive Agents Phase 1
47
Acitretin Approved 55079-83-9 5284513 6437841
48
Isotretinoin Approved 4759-48-2 5282379 5538
49 Protective Agents
50 Radiation-Protective Agents

Interventional clinical trials:

(show all 29)

# 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 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
4 To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2 GDC-0449
5 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
6 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Face Completed NCT00489086 Phase 2 tazarotene
7 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%
8 Celecoxib in Preventing Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Completed NCT00023621 Phase 2 celecoxib
9 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
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 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 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
13 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
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 aminolevulinic acid hydrochloride;photodynamic therapy;photodynamic therapy
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 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 Active, not 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 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
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 Sonidegib and Buparlisib in Treating Patients With Advanced or Metastatic Basal Cell Carcinoma Active, not recruiting NCT02303041 Buparlisib;Sonidegib

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 28 PTCH1 PTCH2 SUFU

Anatomical Context for Basal Cell Nevus Syndrome

MalaCards organs/tissues related to Basal Cell Nevus Syndrome:

38
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 56)
# Title Authors Year
1
Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment. ( 28951717 )
2017
2
Molecular analysis of keratocystic odontogenic tumor cell lines derived from sporadic and basal cell nevus syndrome patients. ( 29039452 )
2017
3
Muckle-Wells syndrome in the setting of basal cell nevus syndrome. ( 28686751 )
2017
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
Segmental Basal cell nevus syndrome caused by an activating mutation in Smoothened. ( 26822128 )
2016
6
AKT1 Activation is Obligatory for Spontaneous BCC Tumor Growth in a Murine Model That Mimics Some Features of Basal Cell Nevus Syndrome. ( 27388747 )
2016
7
Hedgehog pathway inhibitor therapy in basal-cell nevus syndrome. ( 27838223 )
2016
8
BASAL CELL NEVUS SYNDROME PRESENTING AS EPIRETINAL MEMBRANE AND MYELINATED NERVE FIBER LAYER. ( 27533646 )
2016
9
Risk Factors for Basal Cell Carcinoma Among Patients With Basal Cell Nevus Syndrome: Development of a Basal Cell Nevus Syndrome Patient Registry. ( 27902821 )
2016
10
Basal cell nevus syndrome or Gorlin syndrome. ( 26564075 )
2015
11
Hedgehog Pathway Inhibition for Locally Advanced Periocular Basal Cell Carcinoma and Basal Cell Nevus Syndrome. ( 25935097 )
2015
12
Intermittent Vismodegib Therapy in Basal Cell Nevus Syndrome. ( 26509945 )
2015
13
Basal Cell Nevus Syndrome: An Update on Genetics and Treatment. ( 26409035 )
2015
14
Dermoscopy for Identification of Basal Cell Carcinomas in Basal Cell Nevus Syndrome During Carbon Dioxide Laser Surgery. ( 26572667 )
2015
15
Basal cell nevus syndrome: clinical and molecular review and case report. ( 26356331 )
2015
16
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
17
Squamous cell carcinoma of the maxilla in a patient with basal cell nevus syndrome. ( 24621716 )
2014
18
The use of vismodegib to shrink keratocystic odontogenic tumors in patients with basal cell nevus syndrome. ( 24623282 )
2014
19
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
20
Sonic hedgehog signaling in Basal cell nevus syndrome. ( 25172843 )
2014
21
The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects. ( 23897749 )
2013
22
Comment on basal cell carcinoma rebound after cessation of vismodegib in an individual with basal cell nevus syndrome. ( 23682843 )
2013
23
Meningeal calcification in basal cell nevus syndrome. ( 24287476 )
2013
24
"PTCH"-ing it together: a basal cell nevus syndrome review. ( 23725561 )
2013
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
Basal cell nevus syndrome: a rare entity. ( 22960843 )
2012
28
Basal cell nevus syndrome showing several histologic types of Basal cell carcinoma. ( 22028568 )
2011
29
Long-term safety, tolerability, and efficacy of vismodegib in two patients with metastatic basal cell carcinoma and basal cell nevus syndrome. ( 25386306 )
2011
30
A novel phenotype with features of basal cell nevus syndrome and basaloid follicular hamartoma syndrome. ( 21679799 )
2011
31
Conjunctival ganglioglioma as a feature of basal cell nevus syndrome. ( 21907124 )
2011
32
Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome. ( 20489535 )
2010
33
Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. ( 19557015 )
2009
34
Recurrent petrous apex cholesteatoma in a patient with basal cell nevus syndrome. ( 18722240 )
2008
35
Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree. ( 16733713 )
2006
36
Review of patients with basal cell nevus syndrome. ( 16855496 )
2006
37
Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. ( 17021131 )
2006
38
Basal cell nevus syndrome. ( 15725922 )
2005
39
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. ( 15690381 )
2005
40
Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome. ( 16227103 )
2005
41
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
42
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
43
Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome. ( 11896785 )
2002
44
Novel mutations in the PATCHED gene in basal cell nevus syndrome. ( 12175781 )
2002
45
A novel polymorphism in the PTC gene allows easy identification of allelic loss in basal cell nevus syndrome lesions. ( 11277394 )
2001
46
A mouse model for medulloblastoma and basal cell nevus syndrome. ( 11718263 )
2001
47
Allelic loss at the PTCH gene locus in jaw cysts but not in palmar pits in patients with basal cell nevus syndrome. ( 11000293 )
2000
48
Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. ( 9620294 )
1998
49
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
50
The occurrence of endometrial adenocarcinoma in a patient with basal cell nevus syndrome. ( 9264223 )
1997

Variations for Basal Cell Nevus Syndrome

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

71
# 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 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTCH1 PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INS insertion Pathogenic
2 PTCH1 PTCH1, 11-BP DEL, NT2442 deletion Pathogenic
3 PTCH1 NM_000264.3(PTCH1): c.1081C> T (p.Gln361Ter) single nucleotide variant Pathogenic rs199476090 GRCh37 Chromosome 9, 98241416: 98241416
4 PTCH1 PTCH1, 37-BP DEL, NT808 deletion Pathogenic
5 PTCH1 PTCH1, 1148G-A single nucleotide variant Pathogenic
6 PTCH1 PTCH1, 2-BP INS, 2047CT insertion Pathogenic
7 PTCH1 PTCH1, 1-BP INS, 2000C insertion Pathogenic
8 PTCH1 PTCH1, 1-BP DEL, 2583C deletion Pathogenic
9 PTCH1 PTCH1, 1-BP INS, 1247T insertion Pathogenic
10 PTCH1 PTCH1, TRP129TER single nucleotide variant Pathogenic
11 PTCH1 NM_000264.3(PTCH1): c.395-1G> A single nucleotide variant Likely pathogenic rs368869806 GRCh37 Chromosome 9, 98248157: 98248157
12 PTCH1 NM_000264.4(PTCH1): c.3168+2T> C single nucleotide variant Pathogenic rs786204056 GRCh37 Chromosome 9, 98220293: 98220293
13 PTCH1 NM_001083602.2(PTCH1): c.145G> T (p.Gly49Ter) single nucleotide variant Pathogenic rs794727242 GRCh37 Chromosome 9, 98268740: 98268740
14 SUFU NM_016169.3(SUFU): c.1022+1G> A single nucleotide variant Pathogenic rs587776578 GRCh37 Chromosome 10, 104359302: 104359302
15 PTCH2 NM_001166292.1(PTCH2): c.1172_1173delCT (p.Ser391Terfs) deletion Pathogenic/Likely pathogenic rs56126236 GRCh37 Chromosome 1, 45295116: 45295117
16 PTCH2 NM_001166292.1(PTCH2): c.2156G> A (p.Arg719Gln) single nucleotide variant Pathogenic rs121434397 GRCh37 Chromosome 1, 45293289: 45293289
17 PTCH1 NM_000264.4(PTCH1): c.3450-2A> G single nucleotide variant Likely pathogenic rs863224443 GRCh37 Chromosome 9, 98212224: 98212224
18 PTCH1 NM_000264.4(PTCH1): c.3449+1G> A single nucleotide variant Likely pathogenic rs863224442 GRCh38 Chromosome 9, 95453477: 95453477
19 PTCH1 NM_000264.4(PTCH1): c.2842_2849delTGGGTCCA (p.Trp948Argfs) deletion Pathogenic rs863224485 GRCh38 Chromosome 9, 95459638: 95459645
20 PTCH1 NM_000264.4(PTCH1): c.2799delG (p.Tyr934Metfs) deletion Pathogenic rs863224484 GRCh38 Chromosome 9, 95459688: 95459688
21 PTCH1 NM_000264.4(PTCH1): c.945+1G> A single nucleotide variant Pathogenic rs863224444 GRCh38 Chromosome 9, 95480389: 95480389
22 PTCH1 NM_000264.4(PTCH1): c.666T> A (p.Tyr222Ter) single nucleotide variant Pathogenic rs863224487 GRCh38 Chromosome 9, 95482029: 95482029
23 PTCH1 NM_000264.4(PTCH1): c.612C> G (p.Tyr204Ter) single nucleotide variant Pathogenic rs863224486 GRCh38 Chromosome 9, 95482176: 95482176
24 PTCH1 NM_000264.4(PTCH1): c.1502A> G (p.Gln501Arg) single nucleotide variant Pathogenic rs863225054 GRCh38 Chromosome 9, 95477548: 95477548
25 PTCH1 NM_001083602.2(PTCH1): c.1393_1403delATCCCTTTTGA (p.Ile465Glyfs) deletion Pathogenic rs863225055 GRCh38 Chromosome 9, 95476760: 95476770
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_000264.4(PTCH1): c.2539_2542delTACTinsAG (p.Tyr847Serfs) indel Pathogenic rs863225467 GRCh37 Chromosome 9, 98229416: 98229419
29 PTCH1 NM_000264.4(PTCH1): c.1503+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs864622293 GRCh38 Chromosome 9, 95477546: 95477546
30 PTCH1 NM_000264.4(PTCH1): c.1329delC (p.Ser444Alafs) deletion Pathogenic rs864622374 GRCh38 Chromosome 9, 95478073: 95478073
31 PTCH1 NM_000264.4(PTCH1): c.270_304del35 (p.Tyr93Glyfs) deletion Pathogenic rs864622583 GRCh37 Chromosome 9, 98268779: 98268813
32 PTCH1 NM_000264.4(PTCH1): c.258_259delCT (p.Leu87Ilefs) deletion Pathogenic rs864622212 GRCh38 Chromosome 9, 95506542: 95506543
33 PTCH1 NM_000264.4(PTCH1): c.3394T> C (p.Ser1132Pro) single nucleotide variant Likely pathogenic rs878853856 GRCh37 Chromosome 9, 98215815: 98215815
34 PTCH1 NM_000264.4(PTCH1): c.2561-2A> T single nucleotide variant Likely pathogenic rs878853852 GRCh37 Chromosome 9, 98224282: 98224282
35 PTCH1 NM_000264.4(PTCH1): c.2391C> A (p.Tyr797Ter) single nucleotide variant Pathogenic rs778260156 GRCh38 Chromosome 9, 95467285: 95467285
36 PTCH1 NM_000264.4(PTCH1): c.1615delG (p.Glu539Serfs) deletion Pathogenic rs878853847 GRCh37 Chromosome 9, 98238429: 98238429
37 PTCH1 NM_000264.4(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_000264.4(PTCH1): c.114delG (p.Leu39Cysfs) deletion Pathogenic rs1057518664 GRCh38 Chromosome 9, 95508248: 95508248
40 PTCH1 NM_000264.4(PTCH1): c.585-1G> C single nucleotide variant Pathogenic rs1057520590 GRCh37 Chromosome 9, 98244486: 98244486
41 PTCH1 NC_000009.12: g.(?_95442982)_(95508549_?)del deletion Pathogenic GRCh37 Chromosome 9, 98205264: 98270831
42 PTCH1 NC_000009.12: g.(?_95467116)_(95469931_?)del deletion Pathogenic GRCh37 Chromosome 9, 98229398: 98232213
43 PTCH1 NM_000264.4(PTCH1): c.3460delG (p.Ala1154Leufs) deletion Pathogenic rs1060502264 GRCh38 Chromosome 9, 95449930: 95449930
44 PTCH1 NM_000264.4(PTCH1): c.3152G> A (p.Trp1051Ter) single nucleotide variant Pathogenic rs1060502301 GRCh38 Chromosome 9, 95458029: 95458029
45 PTCH1 NM_000264.4(PTCH1): c.1602+1G> T single nucleotide variant Likely pathogenic rs1060502277 GRCh38 Chromosome 9, 95476758: 95476758
46 PTCH1 NM_000264.4(PTCH1): c.1155delC (p.Asn386Thrfs) deletion Pathogenic rs1060502297 GRCh38 Chromosome 9, 95479060: 95479060
47 PTCH1 NM_000264.4(PTCH1): c.2308C> T (p.Arg770Ter) single nucleotide variant Pathogenic rs766313615 GRCh38 Chromosome 9, 95467368: 95467368
48 PTCH1 NM_000264.4(PTCH1): c.1882C> T (p.Gln628Ter) single nucleotide variant Pathogenic rs1060502274 GRCh38 Chromosome 9, 95469119: 95469119
49 PTCH1 NM_000264.4(PTCH1): c.1208_1209delAT (p.Tyr403Cysfs) deletion Pathogenic rs1060502286 GRCh38 Chromosome 9, 95479006: 95479007
50 PTCH1 NM_000264.4(PTCH1): c.1068-2A> T single nucleotide variant Pathogenic rs1060502271 GRCh38 Chromosome 9, 95479149: 95479149

Cosmic variations for Basal Cell Nevus Syndrome:

9 (show top 50) (show all 226)
# 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 28
2 COSM44126 TP53 skin,eye,carcinoma,basal cell carcinoma c.507G>A p.M169I 28
3 COSM144245 PTCH1 skin,eye,carcinoma,basal cell carcinoma c.1585A>T p.K529* 28
4 COSM17596 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.863G>A p.G288D 28
5 COSM17597 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1977G>A p.Q659Q 28
6 COSM17602 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1922C>T p.P641L 28
7 COSM43635 TP53 skin,NS,carcinoma,basal cell carcinoma c.536A>T p.H179L 27
8 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 27
9 COSM43920 TP53 skin,NS,carcinoma,basal cell carcinoma c.680C>T p.S227F 27
10 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 27
11 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 27
12 COSM45734 TP53 skin,NS,carcinoma,basal cell carcinoma c.622G>T p.D208Y 27
13 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 27
14 COSM43616 TP53 skin,NS,carcinoma,basal cell carcinoma c.704A>G p.N235S 27
15 COSM43596 TP53 skin,NS,carcinoma,basal cell carcinoma c.841G>A p.D281N 27
16 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 27
17 COSM44310 TP53 skin,NS,carcinoma,basal cell carcinoma c.738G>A p.M246I 27
18 COSM11084 TP53 skin,NS,carcinoma,basal cell carcinoma c.517G>A p.V173M 27
19 COSM45138 TP53 skin,NS,carcinoma,basal cell carcinoma c.853G>C p.E285Q 27
20 COSM43700 TP53 skin,NS,carcinoma,basal cell carcinoma c.712T>A p.C238S 27
21 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 27
22 COSM10887 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>G p.P278R 27
23 COSM44241 TP53 skin,NS,carcinoma,basal cell carcinoma c.592G>T p.E198* 27
24 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 27
25 COSM45751 TP53 skin,NS,carcinoma,basal cell carcinoma c.511G>C p.E171Q 27
26 COSM44130 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159A 27
27 COSM10705 TP53 skin,NS,carcinoma,basal cell carcinoma c.586C>T p.R196* 27
28 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 27
29 COSM43842 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 27
30 COSM43695 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>T p.P250S 27
31 COSM11376 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 27
32 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 27
33 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 27
34 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 27
35 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 27
36 COSM10863 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 27
37 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 27
38 COSM45322 TP53 skin,NS,carcinoma,basal cell carcinoma c.757A>G p.T253A 27
39 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 27
40 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 27
41 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 27
42 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 27
43 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 27
44 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 27
45 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 27
46 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 27
47 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 27
48 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 27
49 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 27
50 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 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:

36
# 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
14.02 BMPR1A GAS1 GLI1 GLI2 GLI3 PORCN
2
Show member pathways
12.85 GLI1 GLI2 GLI3 PTCH1 PTCH2 SMO
3 12.69 GLI1 GLI2 GLI3 PTCH1 PTCH2 SHH
4
Show member pathways
12.4 GAS1 GLI1 GLI2 GLI3 PTCH1 SHH
5
Show member pathways
12.24 PTCH1 PTCH2 SHH SMO
6 12.14 GLI1 GLI2 PTCH1 PTCH2 SHH SUFU
7
Show member pathways
11.97 GLI1 GLI2 GLI3 PTCH1 PTCH2 ROR2
8 11.94 BMPR1A GLI3 ROR2 SHH
9 11.48 BMPR1A GLI3 PTCH1
10
Show member pathways
11.39 GAS1 GLI1 GLI2 GLI3 PTCH1 PTCH2
11 11.31 GLI1 GLI2 PTCH1 SHH SMO
12
Show member pathways
11.15 GAS1 GLI2 PTCH1 PTCH2 SHH SMO
13 11.11 GLI1 GLI2 SHH
14 10.48 GLI3 SHH
15 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:

# 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 81)
# Name GO ID Score Top Affiliating Genes
1 canonical Wnt signaling pathway GO:0060070 9.95 GLI1 PORCN SHH SMO
2 central nervous system development GO:0007417 9.93 GLI3 SHH SMO
3 kidney development GO:0001822 9.92 GLI2 GLI3 SHH
4 osteoblast differentiation GO:0001649 9.92 GLI1 GLI2 SMO
5 palate development GO:0060021 9.91 BMPR1A GLI3 SHH
6 determination of left/right symmetry GO:0007368 9.9 SHH SMO SUFU
7 heart looping GO:0001947 9.89 SHH SMO SUFU
8 cell fate commitment GO:0045165 9.89 GAS1 ROR2 SHH
9 embryonic limb morphogenesis GO:0030326 9.89 GLI3 PTCH1 SHH
10 embryonic digit morphogenesis GO:0042733 9.89 BMPR1A GLI2 GLI3 ROR2 SHH
11 heart morphogenesis GO:0003007 9.88 BMPR1A PTCH1 SMO
12 skin development GO:0043588 9.88 PTCH2 SHH SUFU
13 branching involved in ureteric bud morphogenesis GO:0001658 9.88 GLI3 PTCH1 SHH
14 odontogenesis of dentin-containing tooth GO:0042475 9.88 BMPR1A GLI2 GLI3 SHH SMO
15 liver regeneration GO:0097421 9.87 GLI1 GLI3 PTCH1
16 mammary gland development GO:0030879 9.87 GLI2 GLI3 PTCH1
17 regulation of smoothened signaling pathway GO:0008589 9.87 GAS1 GLI1 GLI2 PTCH1
18 negative regulation of smoothened signaling pathway GO:0045879 9.86 GLI3 PTCH1 PTCH2 SUFU
19 pituitary gland development GO:0021983 9.85 BMPR1A GLI1 GLI2
20 branching morphogenesis of an epithelial tube GO:0048754 9.85 GLI2 GLI3 SHH
21 positive regulation of mesenchymal cell proliferation GO:0002053 9.85 BMPR1A SHH SMO
22 pattern specification process GO:0007389 9.85 BMPR1A GLI2 GLI3 PTCH1 SHH SMO
23 positive regulation of smoothened signaling pathway GO:0045880 9.84 GLI1 SHH SMO
24 proximal/distal pattern formation GO:0009954 9.83 GLI1 GLI2 GLI3
25 renal system development GO:0072001 9.83 PTCH1 SHH SMO
26 positive regulation of neuroblast proliferation GO:0002052 9.83 GLI3 SHH SMO
27 embryonic organ development GO:0048568 9.83 BMPR1A GLI3 PTCH1 SHH SMO
28 positive regulation of protein import into nucleus GO:0042307 9.82 GLI3 SHH SMO
29 anatomical structure formation involved in morphogenesis GO:0048646 9.81 GLI2 GLI3 SHH
30 spinal cord motor neuron differentiation GO:0021522 9.81 GLI2 GLI3 PTCH1 SHH
31 somite development GO:0061053 9.8 PTCH1 SHH SMO
32 anatomical structure development GO:0048856 9.8 GLI2 GLI3 SHH
33 embryonic morphogenesis GO:0048598 9.79 BMPR1A GLI3 SHH
34 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.79 GLI2 GLI3 PTCH1
35 hindbrain development GO:0030902 9.76 GLI2 SHH
36 cerebellar cortex morphogenesis GO:0021696 9.76 GLI1 GLI2 SMO
37 dorsal/ventral neural tube patterning GO:0021904 9.76 GLI2 PTCH1 SHH SMO
38 embryonic digestive tract morphogenesis GO:0048557 9.75 GLI3 SHH
39 male genitalia development GO:0030539 9.75 ROR2 SHH
40 embryonic digestive tract development GO:0048566 9.75 GLI2 GLI3
41 osteoblast development GO:0002076 9.75 GLI2 SHH
42 cell fate specification GO:0001708 9.75 SHH SMO
43 cell fate determination GO:0001709 9.75 PTCH1 PTCH2
44 hindgut morphogenesis GO:0007442 9.75 GLI2 GLI3 SHH
45 digestive tract morphogenesis GO:0048546 9.74 GLI1 SHH
46 mammary gland epithelial cell differentiation GO:0060644 9.74 PTCH1 SMO
47 thalamus development GO:0021794 9.74 SHH SMO
48 ectoderm development GO:0007398 9.74 BMPR1A SHH
49 cellular response to cholesterol GO:0071397 9.74 PTCH1 SMO
50 hindlimb morphogenesis GO:0035137 9.73 BMPR1A PTCH1

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 9.32 PTCH1 PTCH2
2 smoothened binding GO:0005119 9.26 PTCH1 PTCH2
3 hedgehog receptor activity GO:0008158 9.16 PTCH1 PTCH2
4 Wnt-protein binding GO:0017147 9.13 PORCN ROR2 SMO
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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