BCNS
MCID: BSL036
MIFTS: 65

Basal Cell Nevus Syndrome (BCNS)

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 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 keratocystic odontogenic tumor. 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 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 59)
# Related Disease Score Top Affiliating Genes
1 focal dermal hypoplasia 32.5 PORCN PTCH1
2 keratocystic odontogenic tumor 29.7 GLI1 PTCH1 SHH SMO SUFU
3 basal cell carcinoma 29.0 GLI1 GLI2 GLI3 PTCH1 PTCH2 SHH
4 medulloblastoma 28.4 GLI1 GLI2 GLI3 PTCH1 PTCH2 SHH
5 meier-gorlin syndrome 1 12.5
6 meier-gorlin syndrome 3 12.3
7 meier-gorlin syndrome 8 12.2
8 meier-gorlin syndrome 2 12.2
9 meier-gorlin syndrome 4 12.2
10 meier-gorlin syndrome 5 12.2
11 meier-gorlin syndrome 6 12.2
12 meier-gorlin syndrome 7 12.2
13 lopes gorlin syndrome 11.9
14 basal cell carcinoma 1 11.4
15 holoprosencephaly, recurrent infections, and monocytosis 10.6 GLI2 PTCH1
16 calcifying epithelial odontogenic tumor 10.5 GLI2 PTCH1
17 cerebellum cancer 10.5 SHH SUFU
18 bardet-biedl syndrome 17 10.4 GLI2 PTCH1 SHH
19 basal cell carcinoma, multiple 10.4 PTCH1 PTCH2 SMO
20 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.3 GLI1 GLI2 SHH
21 holoprosencephaly 4 10.3 GLI3 SHH
22 esophageal atresia 10.3 GLI2 GLI3 SHH
23 adult medulloblastoma 10.3 GLI1 PTCH1 SHH SUFU
24 septopreoptic holoprosencephaly 10.3 GAS1 GLI2 PTCH1 SHH
25 nodular medulloblastoma 10.2 GLI1 GLI2 PTCH1 SUFU
26 midline interhemispheric variant of holoprosencephaly 10.2 GAS1 GLI2 PTCH1 SHH
27 alobar holoprosencephaly 10.2 GAS1 GLI2 PTCH1 SHH
28 gastric squamous cell carcinoma 10.2 GLI1 SHH
29 nervous system cancer 10.2 GLI1 PTCH1 SHH SUFU
30 lobar holoprosencephaly 10.2 GAS1 GLI2 PTCH1 SHH
31 semilobar holoprosencephaly 10.2 GAS1 GLI2 PTCH1 SHH
32 ameloblastoma 10.2 GLI1 PTCH1 SMO
33 integumentary system cancer 10.2 GLI1 GLI2 PTCH1 SHH
34 acrocallosal syndrome 10.1 GLI3 KIF7 SUFU
35 greig cephalopolysyndactyly syndrome 10.1 GLI2 GLI3 KIF7
36 microform holoprosencephaly 10.0 GAS1 GLI2 PTCH1 SHH SUFU
37 tracheoesophageal fistula 10.0 FANCC GLI3 SHH
38 brain cancer 9.9 GLI1 GLI3 PTCH1 SHH
39 dysplastic nevus syndrome 9.9
40 squamous cell carcinoma 9.9
41 holoprosencephaly 9.8 GAS1 GLI2 GLI3 PTCH1 SHH
42 muckle-wells syndrome 9.8
43 xeroderma pigmentosum, variant type 9.8
44 pseudopseudohypoparathyroidism 9.8
45 craniosynostosis 9.8
46 adenoiditis 9.8
47 brachydactyly 9.8
48 inflammatory bowel disease 9.8
49 adenoid cystic carcinoma 9.8
50 endometrial adenocarcinoma 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:

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 microphthalmia 32 HP:0000568
36 spina bifida 32 HP:0002414
37 down-sloping shoulders 32 HP:0200021
38 cleft upper lip 32 HP:0000204
39 bifid ribs 32 HP:0000892
40 supernumerary ribs 32 HP:0005815
41 abnormality of the sternum 32 HP:0000766
42 motor delay 32 HP:0001270
43 kyphoscoliosis 32 HP:0002751
44 cardiac rhabdomyoma 32 HP:0009729
45 skin tags 32 HP:0010609
46 medulloblastoma 32 HP:0002885
47 short distal phalanx of the thumb 32 HP:0009650
48 short ribs 32 HP:0000773
49 milia 32 HP:0001056
50 basal cell carcinoma 32 HP:0002671

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased ionizing radiation sensitivity GR00232-A-1 9.17 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 craniofacial MP:0005382 10.28 GLI1 GLI2 GAS1 GLI3 ROR2 PTCH1
2 digestive/alimentary MP:0005381 10.26 GLI1 GLI2 GLI3 PORCN ROR2 PTCH1
3 cellular MP:0005384 10.25 GLI1 FANCC GLI2 GAS1 GLI3 PTCH1
4 embryo MP:0005380 10.25 GLI3 GLI1 GLI2 GAS1 PORCN ROR2
5 growth/size/body region MP:0005378 10.22 GLI1 GLI3 GLI2 GAS1 PORCN PTCH1
6 cardiovascular system MP:0005385 10.21 GLI3 GAS1 PTCH2 PTCH1 KIF7 SHH
7 nervous system MP:0003631 10.18 GLI3 GLI1 GLI2 GAS1 PORCN ROR2
8 limbs/digits/tail MP:0005371 10.17 GLI2 GAS1 GLI3 GLI1 ROR2 PTCH1
9 endocrine/exocrine gland MP:0005379 10.1 GLI1 FANCC GLI2 PORCN GLI3 PTCH1
10 hearing/vestibular/ear MP:0005377 10 GLI3 GLI2 GAS1 ROR2 PTCH1 SMO
11 normal MP:0002873 9.97 GLI1 GLI3 GLI2 PORCN PTCH1 PTCH2
12 reproductive system MP:0005389 9.96 GLI3 GLI1 FANCC GLI2 PORCN ROR2
13 no phenotypic analysis MP:0003012 9.91 GLI1 GLI3 GLI2 PTCH1 KIF7 SUFU
14 respiratory system MP:0005388 9.85 GLI3 GLI1 GLI2 GAS1 ROR2 PTCH1
15 skeleton MP:0005390 9.7 GLI3 FANCC GLI2 GAS1 PORCN ROR2
16 vision/eye MP:0005391 9.28 GLI3 GLI2 GAS1 ROR2 PTCH1 KIF7

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,Not Applicable
3 Photosensitizing Agents Phase 3,Phase 2,Not Applicable
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,Not Applicable 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
Nicotinamide Approved, Investigational, Nutraceutical Phase 2 98-92-0 936
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 Analgesics Phase 2
14 interferons Phase 1, Phase 2
15 Micronutrients Phase 2
16 Cyclooxygenase 2 Inhibitors Phase 2
17 Cyclooxygenase Inhibitors Phase 2
18 Analgesics, Non-Narcotic Phase 2
19 Nicotinic Acids Phase 2
20 Trace Elements Phase 2
21 Peripheral Nervous System Agents Phase 2
22 Vitamin B Complex Phase 2
23 Pharmaceutical Solutions Phase 2,Not Applicable
24 Vitamins Phase 2
25 Anti-Infective Agents Phase 2,Phase 1
26 Interferon-gamma Phase 1, Phase 2,Phase 2
27 Antifungal Agents Phase 2,Phase 1
28 Keratolytic Agents Phase 2
29 Anti-Inflammatory Agents Phase 2
30 Anti-Inflammatory Agents, Non-Steroidal Phase 2
31 Antirheumatic Agents Phase 2
32
Hydroxyitraconazole Phase 2
33 Steroid Synthesis Inhibitors Phase 2
34 Cytochrome P-450 CYP3A Inhibitors Phase 2
35 Cytochrome P-450 Enzyme Inhibitors Phase 2
36 Hormone Antagonists Phase 2
37 Hormones Phase 2
38 Hormones, Hormone Substitutes, and Hormone Antagonists 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
Isotretinoin Approved Not Applicable 4759-48-2 5538 5282379
48
Acitretin Approved 55079-83-9 6437841 5284513
49 Sunscreening Agents
50 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 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
13 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
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 Study of ASN-002 to Treat Basal Cell Carcinomas (BCCs) in Individuals With Basal Cell Nevus Syndrome (BCNS) Suspended NCT03208296 Phase 1, Phase 2
16 Topical Sirolimus in Patients With Basal Cell Nevus Syndrome and in Healthy Participants Completed NCT00433485 Phase 1 sirolimus
17 Development of a Nanosecond Pulsed Electric Field System to Treat Skin Cancer Completed NCT01463709 Phase 1
18 Photodynamic Therapy and Vismodegib for Multiple Basal Cell Carcinomas Active, not recruiting NCT02639117 Phase 1 Vismodegib
19 Vitamin D and Photodynamic Therapy for Treatment of BCC in BCNS Not yet recruiting NCT03483441 Phase 1 PDT
20 Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus Syndrome Completed NCT02157623 Not Applicable Levulan
21 Study of BMS-833923 in Two Specific Patients With Basal Cell Nevus Syndrome Completed NCT02100371 Not Applicable 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 Not Applicable isotretinoin
25 Levocarnitine in Treating Patients With Vismodegib-Associated Muscle Spasms Completed NCT01893892 Not Applicable
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 Vitamin D as a Nutritional Neoadjuvant During Photodynamic Therapy of Basal Cell Carcinoma Not yet recruiting NCT03467789 Not Applicable

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, Lung, Testes

Publications for Basal Cell Nevus Syndrome

Articles related to Basal Cell Nevus Syndrome:

(show top 50) (show all 69)
# 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
Muckle-Wells syndrome in the setting of basal cell nevus syndrome. ( 28686751 )
2017
4
Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment. ( 28951717 )
2017
5
Molecular analysis of keratocystic odontogenic tumor cell lines derived from sporadic and basal cell nevus syndrome patients. ( 29039452 )
2017
6
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
7
Risk Factors for Basal Cell Carcinoma Among Patients With Basal Cell Nevus Syndrome: Development of a Basal Cell Nevus Syndrome Patient Registry. ( 27902821 )
2016
8
AKT1 Activation is Obligatory for Spontaneous BCC Tumor Growth in a Murine Model That Mimics Some Features of Basal Cell Nevus Syndrome. ( 27388747 )
2016
9
BASAL CELL NEVUS SYNDROME PRESENTING AS EPIRETINAL MEMBRANE AND MYELINATED NERVE FIBER LAYER. ( 27533646 )
2016
10
Segmental Basal cell nevus syndrome caused by an activating mutation in Smoothened. ( 26822128 )
2016
11
Hedgehog pathway inhibitor therapy in basal-cell nevus syndrome. ( 27838223 )
2016
12
Basal Cell Nevus Syndrome: An Update on Genetics and Treatment. ( 26409035 )
2015
13
Intermittent Vismodegib Therapy in Basal Cell Nevus Syndrome. ( 26509945 )
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 or Gorlin syndrome. ( 26564075 )
2015
16
Basal cell nevus syndrome: clinical and molecular review and case report. ( 26356331 )
2015
17
Hedgehog Pathway Inhibition for Locally Advanced Periocular Basal Cell Carcinoma and Basal Cell Nevus Syndrome. ( 25935097 )
2015
18
The use of vismodegib to shrink keratocystic odontogenic tumors in patients with basal cell nevus syndrome. ( 24623282 )
2014
19
Sonic hedgehog signaling in Basal cell nevus syndrome. ( 25172843 )
2014
20
Squamous cell carcinoma of the maxilla in a patient with basal cell nevus syndrome. ( 24621716 )
2014
21
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
22
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
23
Comment on basal cell carcinoma rebound after cessation of vismodegib in an individual with basal cell nevus syndrome. ( 23682843 )
2013
24
"PTCH"-ing it together: a basal cell nevus syndrome review. ( 23725561 )
2013
25
The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects. ( 23897749 )
2013
26
Meningeal calcification in basal cell nevus syndrome. ( 24287476 )
2013
27
Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome. ( 22670904 )
2012
28
Basal cell nevus syndrome: a rare entity. ( 22960843 )
2012
29
Retraction: Basal cell nevus syndrome showing several histologic types of basal cell carcinoma. ( 22577287 )
2012
30
Basal cell nevus syndrome showing several histologic types of Basal cell carcinoma. ( 22028568 )
2011
31
A novel phenotype with features of basal cell nevus syndrome and basaloid follicular hamartoma syndrome. ( 21679799 )
2011
32
Conjunctival ganglioglioma as a feature of basal cell nevus syndrome. ( 21907124 )
2011
33
Long-term safety, tolerability, and efficacy of vismodegib in two patients with metastatic basal cell carcinoma and basal cell nevus syndrome. ( 25386306 )
2011
34
Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome. ( 20489535 )
2010
35
Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. ( 19557015 )
2009
36
Recurrent petrous apex cholesteatoma in a patient with basal cell nevus syndrome. ( 18722240 )
2008
37
Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. ( 17021131 )
2006
38
Review of patients with basal cell nevus syndrome. ( 16855496 )
2006
39
Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree. ( 16733713 )
2006
40
Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome. ( 16227103 )
2005
41
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. ( 15690381 )
2005
42
Basal cell nevus syndrome. ( 15725922 )
2005
43
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
44
Basal cell nevus syndrome concurrent with adenoid cystic carcinoma of salivary gland. ( 12734479 )
2003
45
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
46
Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome. ( 11896785 )
2002
47
Novel mutations in the PATCHED gene in basal cell nevus syndrome. ( 12175781 )
2002
48
A mouse model for medulloblastoma and basal cell nevus syndrome. ( 11718263 )
2001
49
A novel polymorphism in the PTC gene allows easy identification of allelic loss in basal cell nevus syndrome lesions. ( 11277394 )
2001
50
Allelic loss at the PTCH gene locus in jaw cysts but not in palmar pits in patients with basal cell nevus syndrome. ( 11000293 )
2000

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 1920)
# 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 PTCH2 NM_001166292.1(PTCH2): c.1172_1173delCT (p.Ser391Terfs) deletion Likely pathogenic rs56126236 GRCh37 Chromosome 1, 45295116: 45295117
4 PTCH2 NM_001166292.1(PTCH2): c.1172_1173delCT (p.Ser391Terfs) deletion Likely pathogenic rs56126236 GRCh38 Chromosome 1, 44829444: 44829445
5 PTCH2 NM_001166292.1(PTCH2): c.2156G> A (p.Arg719Gln) single nucleotide variant Pathogenic rs121434397 GRCh37 Chromosome 1, 45293289: 45293289
6 PTCH2 NM_001166292.1(PTCH2): c.2156G> A (p.Arg719Gln) single nucleotide variant Pathogenic rs121434397 GRCh38 Chromosome 1, 44827617: 44827617
7 PTCH1 PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INS insertion Pathogenic
8 PTCH1 PTCH1, 11-BP DEL, NT2442 deletion Pathogenic
9 PTCH1 NM_000264.3(PTCH1): c.1081C> T (p.Gln361Ter) single nucleotide variant Pathogenic rs199476090 GRCh37 Chromosome 9, 98241416: 98241416
10 PTCH1 NM_000264.3(PTCH1): c.1081C> T (p.Gln361Ter) single nucleotide variant Pathogenic rs199476090 GRCh38 Chromosome 9, 95479134: 95479134
11 PTCH1 PTCH1, 37-BP DEL, NT808 deletion Pathogenic
12 PTCH1 PTCH1, 1148G-A single nucleotide variant Pathogenic
13 PTCH1 PTCH1, 2-BP INS, 2047CT insertion Pathogenic
14 PTCH1 PTCH1, 1-BP INS, 2000C insertion Pathogenic
15 PTCH1 PTCH1, 1-BP DEL, 2583C deletion Pathogenic
16 PTCH1 PTCH1, 1-BP INS, 1247T insertion Pathogenic
17 PTCH1 PTCH1, TRP129TER single nucleotide variant Pathogenic
18 PTCH1 NM_001083602.2(PTCH1): c.895C> T (p.Gln299Ter) single nucleotide variant Pathogenic rs267606984 GRCh38 Chromosome 9, 95479122: 95479122
19 PTCH1 NM_001083602.2(PTCH1): c.895C> T (p.Gln299Ter) single nucleotide variant Pathogenic rs267606984 GRCh37 Chromosome 9, 98241404: 98241404
20 PTCH1 NM_000264.4(PTCH1): c.3422C> T (p.Ala1141Val) single nucleotide variant Uncertain significance rs376844749 GRCh37 Chromosome 9, 98215787: 98215787
21 PTCH1 NM_000264.4(PTCH1): c.3422C> T (p.Ala1141Val) single nucleotide variant Uncertain significance rs376844749 GRCh38 Chromosome 9, 95453505: 95453505
22 PTCH1 NM_000264.4(PTCH1): c.2945G> A (p.Arg982Gln) single nucleotide variant Uncertain significance rs145924695 GRCh37 Chromosome 9, 98220518: 98220518
23 PTCH1 NM_000264.4(PTCH1): c.2945G> A (p.Arg982Gln) single nucleotide variant Uncertain significance rs145924695 GRCh38 Chromosome 9, 95458236: 95458236
24 PTCH1 NM_000264.4(PTCH1): c.1234G> T (p.Ala412Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs370354759 GRCh37 Chromosome 9, 98240450: 98240450
25 PTCH1 NM_000264.4(PTCH1): c.1234G> T (p.Ala412Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs370354759 GRCh38 Chromosome 9, 95478168: 95478168
26 PTCH1 NM_000264.3(PTCH1): c.395-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs368869806 GRCh37 Chromosome 9, 98248157: 98248157
27 PTCH1 NM_000264.3(PTCH1): c.395-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs368869806 GRCh38 Chromosome 9, 95485875: 95485875
28 PTCH1 NM_000264.4(PTCH1): c.1892C> T (p.Thr631Ile) single nucleotide variant Uncertain significance rs727504112 GRCh37 Chromosome 9, 98231391: 98231391
29 PTCH1 NM_000264.4(PTCH1): c.1892C> T (p.Thr631Ile) single nucleotide variant Uncertain significance rs727504112 GRCh38 Chromosome 9, 95469109: 95469109
30 PTCH1 NM_000264.4(PTCH1): c.2680G> A (p.Asp894Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs56173896 GRCh37 Chromosome 9, 98224161: 98224161
31 PTCH1 NM_000264.4(PTCH1): c.2680G> A (p.Asp894Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs56173896 GRCh38 Chromosome 9, 95461879: 95461879
32 PTCH1 NM_000264.4(PTCH1): c.2105C> G (p.Pro702Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368362152 GRCh37 Chromosome 9, 98231178: 98231178
33 PTCH1 NM_000264.4(PTCH1): c.2105C> G (p.Pro702Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368362152 GRCh38 Chromosome 9, 95468896: 95468896
34 PTCH1 NM_000264.4(PTCH1): c.43_51delGGCGGCGGC (p.Gly15_Gly17del) deletion Uncertain significance rs780826614 GRCh38 Chromosome 9, 95508311: 95508319
35 PTCH1 NM_000264.4(PTCH1): c.4199G> A (p.Gly1400Asp) single nucleotide variant Uncertain significance rs786204094 GRCh37 Chromosome 9, 98209339: 98209339
36 PTCH1 NM_000264.4(PTCH1): c.4199G> A (p.Gly1400Asp) single nucleotide variant Uncertain significance rs786204094 GRCh38 Chromosome 9, 95447057: 95447057
37 PTCH1 NM_000264.4(PTCH1): c.4051A> G (p.Asn1351Asp) single nucleotide variant Uncertain significance rs786204103 GRCh37 Chromosome 9, 98209487: 98209487
38 PTCH1 NM_000264.4(PTCH1): c.4051A> G (p.Asn1351Asp) single nucleotide variant Uncertain significance rs786204103 GRCh38 Chromosome 9, 95447205: 95447205
39 PTCH1 NM_000264.4(PTCH1): c.4001G> A (p.Ser1334Asn) single nucleotide variant Uncertain significance rs200620662 GRCh37 Chromosome 9, 98209537: 98209537
40 PTCH1 NM_000264.4(PTCH1): c.4001G> A (p.Ser1334Asn) single nucleotide variant Uncertain significance rs200620662 GRCh38 Chromosome 9, 95447255: 95447255
41 PTCH1 NM_000264.4(PTCH1): c.3992C> T (p.Ser1331Phe) single nucleotide variant Uncertain significance rs150373546 GRCh37 Chromosome 9, 98209546: 98209546
42 PTCH1 NM_000264.4(PTCH1): c.3992C> T (p.Ser1331Phe) single nucleotide variant Uncertain significance rs150373546 GRCh38 Chromosome 9, 95447264: 95447264
43 PTCH1 NM_000264.4(PTCH1): c.3915C> A (p.Asp1305Glu) single nucleotide variant Uncertain significance rs786204201 GRCh37 Chromosome 9, 98209623: 98209623
44 PTCH1 NM_000264.4(PTCH1): c.3915C> A (p.Asp1305Glu) single nucleotide variant Uncertain significance rs786204201 GRCh38 Chromosome 9, 95447341: 95447341
45 PTCH1 NM_000264.4(PTCH1): c.3826C> G (p.His1276Asp) single nucleotide variant Uncertain significance rs786204190 GRCh37 Chromosome 9, 98209712: 98209712
46 PTCH1 NM_000264.4(PTCH1): c.3826C> G (p.His1276Asp) single nucleotide variant Uncertain significance rs786204190 GRCh38 Chromosome 9, 95447430: 95447430
47 PTCH1 NM_000264.4(PTCH1): c.3793G> A (p.Ala1265Thr) single nucleotide variant Uncertain significance rs759791227 GRCh37 Chromosome 9, 98211362: 98211362
48 PTCH1 NM_000264.4(PTCH1): c.3793G> A (p.Ala1265Thr) single nucleotide variant Uncertain significance rs759791227 GRCh38 Chromosome 9, 95449080: 95449080
49 PTCH1 NM_000264.4(PTCH1): c.3168+2T> C single nucleotide variant Pathogenic rs786204056 GRCh37 Chromosome 9, 98220293: 98220293
50 PTCH1 NM_000264.4(PTCH1): c.3168+2T> C single nucleotide variant Pathogenic rs786204056 GRCh38 Chromosome 9, 95458011: 95458011

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 COSM17596 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.863G>A p.G288D 9:95480472-95480472 28
4 COSM17597 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1977G>A p.Q659Q 9:95469024-95469024 28
5 COSM17602 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1922C>T p.P641L 9:95469079-95469079 28
6 COSM144245 PTCH1 skin,eye,carcinoma,basal cell carcinoma c.1585A>T p.K529* 9:95476776-95476776 28
7 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 27
8 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 27
9 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 27
10 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 27
11 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 27
12 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 27
13 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 27
14 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 27
15 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 27
16 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 27
17 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 27
18 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 27
19 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 27
20 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 27
21 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 27
22 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 17:7674215-7674215 27
23 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 27
24 COSM45169 TP53 skin,NS,carcinoma,basal cell carcinoma c.326T>C p.F109S 17:7676043-7676043 27
25 COSM43842 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 17:7674193-7674193 27
26 COSM43695 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>T p.P250S 17:7674215-7674215 27
27 COSM10988 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 27
28 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 27
29 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 27
30 COSM43778 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 27
31 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 27
32 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 27
33 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 27
34 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 27
35 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 27
36 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 27
37 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 27
38 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 27
39 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 27
40 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 27
41 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 27
42 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 27
43 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 27
44 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 27
45 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 27
46 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 27
47 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 27
48 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 27
49 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 27
50 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
2
Show member pathways
12.85 GLI1 GLI2 GLI3 PTCH1 PTCH2 SMO
3 12.7 GLI1 GLI2 GLI3 KIF7 PTCH1 PTCH2
4
Show member pathways
12.45 GAS1 GLI1 GLI2 GLI3 KIF7 PTCH1
5
Show member pathways
12.21 PTCH1 PTCH2 SHH SMO
6 12.14 GLI1 GLI2 PTCH1 PTCH2 SHH SUFU
7
Show member pathways
11.79 GLI1 GLI2 GLI3 KIF7 PTCH1 PTCH2
8
Show member pathways
11.43 GAS1 GLI1 GLI2 GLI3 KIF7 PTCH1
9 11.36 GLI1 GLI2 PTCH1 SHH SMO
10
Show member pathways
11.15 GAS1 GLI2 PTCH1 PTCH2 SHH SMO
11 11.11 GLI1 GLI2 SHH
12 10.45 GLI3 SHH
13 10.38 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 74)
# Name GO ID Score Top Affiliating Genes
1 anterior/posterior pattern specification GO:0009952 9.95 GLI2 GLI3 SHH SMO
2 lung development GO:0030324 9.94 GLI1 GLI2 GLI3 SHH
3 central nervous system development GO:0007417 9.92 GLI3 SHH SMO
4 canonical Wnt signaling pathway GO:0060070 9.92 GLI1 PORCN SHH SMO
5 kidney development GO:0001822 9.91 GLI2 GLI3 SHH
6 osteoblast differentiation GO:0001649 9.91 GLI1 GLI2 SMO
7 embryonic digit morphogenesis GO:0042733 9.9 GLI2 GLI3 ROR2 SHH
8 determination of left/right symmetry GO:0007368 9.89 SHH SMO SUFU
9 cell fate commitment GO:0045165 9.89 GAS1 ROR2 SHH
10 odontogenesis of dentin-containing tooth GO:0042475 9.89 GLI2 GLI3 SHH SMO
11 heart looping GO:0001947 9.88 SHH SMO SUFU
12 embryonic limb morphogenesis GO:0030326 9.88 GLI3 PTCH1 SHH
13 embryonic organ development GO:0048568 9.88 GLI3 PTCH1 SHH SMO
14 skin development GO:0043588 9.87 PTCH2 SHH SUFU
15 branching involved in ureteric bud morphogenesis GO:0001658 9.87 GLI3 PTCH1 SHH
16 positive regulation of smoothened signaling pathway GO:0045880 9.87 GLI1 KIF7 SHH SMO
17 liver regeneration GO:0097421 9.86 GLI1 GLI3 PTCH1
18 pattern specification process GO:0007389 9.85 GLI2 GLI3 PTCH1 SHH SMO
19 mammary gland development GO:0030879 9.84 GLI2 GLI3 PTCH1
20 anatomical structure development GO:0048856 9.84 GLI2 GLI3 SHH
21 regulation of smoothened signaling pathway GO:0008589 9.84 GAS1 GLI1 GLI2 PTCH1
22 branching morphogenesis of an epithelial tube GO:0048754 9.83 GLI2 GLI3 SHH
23 positive regulation of protein import into nucleus GO:0042307 9.83 GLI3 SHH SMO
24 anatomical structure formation involved in morphogenesis GO:0048646 9.81 GLI2 GLI3 SHH
25 proximal/distal pattern formation GO:0009954 9.81 GLI1 GLI2 GLI3
26 renal system development GO:0072001 9.8 PTCH1 SHH SMO
27 developmental growth GO:0048589 9.8 GAS1 GLI2 GLI3 SHH SMO
28 positive regulation of neuroblast proliferation GO:0002052 9.79 GLI3 SHH SMO
29 somite development GO:0061053 9.79 PTCH1 SHH SMO
30 spinal cord motor neuron differentiation GO:0021522 9.78 GLI2 GLI3 PTCH1 SHH
31 negative regulation of smoothened signaling pathway GO:0045879 9.77 GLI3 KIF7 PTCH1 PTCH2 SUFU
32 hindbrain development GO:0030902 9.75 GLI2 SHH
33 cell fate specification GO:0001708 9.75 SHH SMO
34 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.75 GLI2 GLI3 PTCH1
35 male genitalia development GO:0030539 9.74 ROR2 SHH
36 embryonic digestive tract morphogenesis GO:0048557 9.74 GLI3 SHH
37 cell fate determination GO:0001709 9.74 PTCH1 PTCH2
38 osteoblast development GO:0002076 9.74 GLI2 SHH
39 embryonic digestive tract development GO:0048566 9.74 GLI2 GLI3
40 embryonic morphogenesis GO:0048598 9.74 GLI3 SHH
41 digestive tract morphogenesis GO:0048546 9.73 GLI1 SHH
42 mammary gland epithelial cell differentiation GO:0060644 9.73 PTCH1 SMO
43 thalamus development GO:0021794 9.73 SHH SMO
44 cellular response to cholesterol GO:0071397 9.73 PTCH1 SMO
45 cerebellar cortex morphogenesis GO:0021696 9.73 GLI1 GLI2 SMO
46 dorsal/ventral neural tube patterning GO:0021904 9.73 GLI2 PTCH1 SHH SMO
47 negative thymic T cell selection GO:0045060 9.72 GLI3 SHH
48 positive regulation of alpha-beta T cell differentiation GO:0046638 9.72 GLI3 SHH
49 positive regulation of T cell differentiation in thymus GO:0033089 9.72 GLI2 SHH
50 hindgut morphogenesis GO:0007442 9.72 GLI2 GLI3 SHH

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

# Name GO ID Score Top Affiliating Genes
1 hedgehog receptor activity GO:0008158 9.32 PTCH1 PTCH2
2 smoothened binding GO:0005119 9.26 PTCH1 PTCH2
3 hedgehog family protein binding GO:0097108 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
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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