BCNS
MCID: BSL036
MIFTS: 68

Basal Cell Nevus Syndrome (BCNS)

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

Aliases & Classifications for Basal Cell Nevus Syndrome

MalaCards integrated aliases for Basal Cell Nevus Syndrome:

Name: Basal Cell Nevus Syndrome 58 12 25 54 26 60 76 38 13 45 41 74
Nevoid Basal Cell Carcinoma Syndrome 58 12 77 25 54 26 60 56 15
Gorlin Syndrome 58 12 25 54 26 60 30 6
Gorlin-Goltz Syndrome 58 54 26 60
Nbccs 58 25 26 60
Bcns 58 25 26 76
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies 58 54
Nevoid Basal Cell Carcinoma Syndrome; Nbccs 58
Gorlin Syndrome or Gorlin-Goltz Syndrome 76

Characteristics:

Orphanet epidemiological data:

60
gorlin syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
paternal age effect
abnormal sensitivity to therapeutic radiation


HPO:

33
basal cell nevus syndrome:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance


GeneReviews:

25
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 : 54 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 ameloblastoma and focal dermal hypoplasia. 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 Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are cerebral calcification and neoplasm

Genetics Home Reference : 26 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 : 76 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 : 77 Nevoid basal-cell carcinoma syndrome (NBCCS), is an inherited medical condition involving defects within... 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 200)
# Related Disease Score Top Affiliating Genes
1 ameloblastoma 30.4 GLI1 PTCH1 SMO
2 focal dermal hypoplasia 30.1 PORCN PTCH1
3 basal cell carcinoma, multiple 30.0 PTCH1 PTCH2 SMO
4 basal cell carcinoma 29.9 GLI1 GLI2 GLI3 PTCH1 PTCH2 SHH
5 nodular medulloblastoma 29.9 GLI1 GLI2 PTCH1 SUFU
6 keratocystic odontogenic tumor 29.8 GLI1 PTCH1 SHH SMO SUFU
7 medulloblastoma 29.4 GLI1 GLI2 GLI3 PTCH1 PTCH2 SHH
8 meier-gorlin syndrome 1 12.7
9 meier-gorlin syndrome 4 12.6
10 meier-gorlin syndrome 2 12.6
11 meier-gorlin syndrome 3 12.6
12 meier-gorlin syndrome 5 12.6
13 meier-gorlin syndrome 6 12.5
14 meier-gorlin syndrome 7 12.5
15 meier-gorlin syndrome 8 12.5
16 lopes gorlin syndrome 12.1
17 basal cell carcinoma 1 11.6
18 hypertelorism, microtia, facial clefting syndrome 11.4
19 9q22.3 microdeletion 11.3
20 short tarsus with absence of lower eyelashes 11.2
21 oculomaxillofacial dysostosis 11.2
22 microphthalmia, syndromic 2 11.0
23 leopard syndrome 11.0
24 craniofacial microsomia 11.0
25 bazex syndrome 11.0
26 soft tissue sarcoma 11.0
27 holoprosencephaly, recurrent infections, and monocytosis 10.3 GLI2 PTCH1
28 fibroma 10.3
29 calcifying epithelial odontogenic tumor 10.3 GLI2 PTCH1
30 albinism, oculocutaneous, type v 10.2 PTCH2 SHH SUFU
31 albinism, oculocutaneous, type vii 10.2 PTCH2 SHH SUFU
32 breast cancer 10.2
33 leiomyosarcoma 10.2
34 fibrosarcoma 10.2
35 epidermoid cysts 10.2
36 carney complex, type 1 10.2
37 nail-patella syndrome 10.2
38 caronte 10.2
39 meningioma, familial 10.2
40 orofacial cleft 10.2
41 gastric leiomyoma 10.2
42 sarcoma 10.2
43 spinal meningioma 10.2
44 lymphangioma 10.2
45 pneumothorax 10.2
46 endometriosis 10.2
47 cystic lymphangioma 10.2
48 secretory meningioma 10.2
49 paresthesia 10.2
50 bardet-biedl syndrome 17 10.2 GLI2 PTCH1 SHH

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



Diseases related to Basal Cell Nevus Syndrome

Symptoms & Phenotypes for Basal Cell Nevus Syndrome

Human phenotypes related to Basal Cell Nevus Syndrome:

60 33 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral calcification 60 33 hallmark (90%) Very frequent (99-80%) HP:0002514
2 neoplasm 60 33 hallmark (90%) Very frequent (99-80%) HP:0002664
3 melanocytic nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000995
4 palmar pits 60 33 hallmark (90%) Very frequent (99-80%) HP:0010610
5 plantar pits 60 33 hallmark (90%) Very frequent (99-80%) HP:0010612
6 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
7 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
8 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
9 abnormality of the neck 60 33 frequent (33%) Frequent (79-30%) HP:0000464
10 vertebral fusion 60 33 frequent (33%) Frequent (79-30%) HP:0002948
11 vertebral wedging 60 33 frequent (33%) Frequent (79-30%) HP:0008422
12 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
13 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
14 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
15 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
16 mandibular prognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000303
17 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
18 carious teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000670
19 brachycephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000248
20 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
21 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
22 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
23 hypogonadotrophic hypogonadism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000044
24 telecanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000506
25 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
26 arachnodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001166
27 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
28 hemivertebrae 60 33 occasional (7.5%) Occasional (29-5%) HP:0002937
29 abnormality of the sense of smell 60 33 occasional (7.5%) Occasional (29-5%) HP:0004408
30 macrocephaly 33 HP:0000256
31 coarse facial features 33 HP:0000280
32 cleft palate 33 HP:0000175
33 short 4th metacarpal 33 HP:0010044
34 sprengel anomaly 33 HP:0000912
35 motor delay 33 HP:0001270
36 kyphoscoliosis 33 HP:0002751
37 microphthalmia 33 HP:0000568
38 spina bifida 33 HP:0002414
39 down-sloping shoulders 33 HP:0200021
40 cleft upper lip 33 HP:0000204
41 bifid ribs 33 HP:0000892
42 supernumerary ribs 33 HP:0005815
43 abnormality of the sternum 33 HP:0000766
44 cardiac rhabdomyoma 33 HP:0009729
45 skin tags 33 HP:0010609
46 medulloblastoma 33 HP:0002885
47 hamartomatous stomach polyps 33 HP:0004795
48 short distal phalanx of the thumb 33 HP:0009650
49 short ribs 33 HP:0000773
50 milia 33 HP:0001056

Symptoms via clinical synopsis from OMIM:

58
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

Abdomen Gastrointestinal:
hamartomatous stomach polyps
lymphomesenteric cysts, often calcified

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

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

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

Clinical features from OMIM:

109400

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

27
# 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:

47 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.29 GAS1 GLI1 GLI2 GLI3 GPR107 KIF7
2 craniofacial MP:0005382 10.28 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
3 growth/size/body region MP:0005378 10.27 GAS1 GLI1 GLI2 GLI3 GPR107 KIF7
4 digestive/alimentary MP:0005381 10.26 GLI1 GLI2 GLI3 KIF7 PORCN PTCH1
5 cellular MP:0005384 10.25 GAS1 GLI1 GLI2 GLI3 GPR107 KIF7
6 cardiovascular system MP:0005385 10.21 GAS1 GLI3 KIF7 PTCH1 PTCH2 ROR2
7 mortality/aging MP:0010768 10.21 GAS1 GLI1 GLI2 GLI3 GPR107 KIF7
8 limbs/digits/tail MP:0005371 10.2 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
9 nervous system MP:0003631 10.18 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
10 hearing/vestibular/ear MP:0005377 10.02 GAS1 GLI2 GLI3 PTCH1 ROR2 SHH
11 normal MP:0002873 9.97 GLI1 GLI2 GLI3 PORCN PTCH1 PTCH2
12 no phenotypic analysis MP:0003012 9.91 GLI1 GLI2 GLI3 KIF7 PTCH1 SHH
13 reproductive system MP:0005389 9.91 GLI1 GLI2 GLI3 KIF7 PORCN PTCH1
14 respiratory system MP:0005388 9.85 GAS1 GLI1 GLI2 GLI3 KIF7 PTCH1
15 skeleton MP:0005390 9.65 GAS1 GLI2 GLI3 KIF7 PORCN PTCH1
16 vision/eye MP:0005391 9.28 GAS1 GLI2 GLI3 KIF7 PTCH1 ROR2

Drugs & Therapeutics for Basal Cell Nevus Syndrome

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

(show top 50) (show all 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verteporfin Approved, Investigational Phase 3 129497-78-5
2 Antihypertensive Agents Phase 3,Phase 2
3 Veratrum Alkaloids Phase 3,Phase 2
4 Photosensitizing Agents Phase 3,Phase 2,Not Applicable
5 Dermatologic Agents Phase 3,Phase 2,Not Applicable
6
Ipilimumab Approved Phase 2 477202-00-9
7
nivolumab Approved Phase 2 946414-94-4
8
Tazarotene Approved, Investigational Phase 2 118292-40-3 5381
9
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
10
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
11
Aminolevulinic acid Approved Phase 2,Phase 1,Not Applicable 106-60-5 137
12
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
13
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
14
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
15
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
16
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
17
Etoposide Approved Phase 2 33419-42-0 36462
18
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
19
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
20
leucovorin Approved Phase 2 58-05-9 143 6006
21
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
23
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
24 Interferon-gamma Phase 1, Phase 2,Phase 2
25 Antineoplastic Agents, Immunological Phase 2
26 Vitamin B3 Phase 2
27 Vitamins Phase 2,Phase 1,Not Applicable
28 Nicotinic Acids Phase 2
29 Vitamin B9 Phase 2
30 Nutrients Phase 2,Phase 1,Not Applicable
31 Keratolytic Agents Phase 2
32 Micronutrients Phase 2,Phase 1,Not Applicable
33 Vitamin B Complex Phase 2
34 Folate Phase 2
35 Trace Elements Phase 2,Phase 1,Not Applicable
36 Peripheral Nervous System Agents Phase 2
37 Antirheumatic Agents Phase 2
38 Analgesics Phase 2
39 Cyclooxygenase Inhibitors Phase 2
40 Analgesics, Non-Narcotic Phase 2
41 Cyclooxygenase 2 Inhibitors Phase 2
42 Anti-Inflammatory Agents Phase 2
43 Anti-Inflammatory Agents, Non-Steroidal Phase 2
44 Pharmaceutical Solutions Phase 2,Not Applicable
45 Anti-Infective Agents Phase 2,Phase 1
46 Cytochrome P-450 CYP3A Inhibitors Phase 2
47 Steroid Synthesis Inhibitors Phase 2
48 Hormones Phase 2,Phase 1,Not Applicable
49 Hormone Antagonists Phase 2
50 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Subjects With Basal Cell Nevus Syndrome Recruiting NCT03703310 Phase 3 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
2 Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin. Terminated NCT00049959 Phase 3 verteporfin PDT
3 Efficacy, Safety and Tolerability of Topically Applied LDE225 Cream (Hedgehog Pathway Inhibitor) in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Withdrawn NCT03070691 Phase 2, Phase 3 LDE225B;Vehicle
4 Study of ASN-002 to Treat Basal Cell Carcinomas (BCCs) in Individuals With Basal Cell Nevus Syndrome (BCNS) Suspended NCT03208296 Phase 1, Phase 2
5 Nivolumab With Vismodegib in Patients With Basal Cell Nevus Syndrome Not yet recruiting NCT03767439 Phase 2 Vismodegib;Nivolumab;Ipilimumab
6 Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas (BCC) in Gorlin Syndrome Patients Completed NCT02762084 Phase 2 patidegib;vehicle gel
7 To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2 GDC-0449
8 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Chest and Back Completed NCT00783965 Phase 2 tazarotene
9 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Face Completed NCT00489086 Phase 2 tazarotene
10 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2 Vehicle;LDE225 0.25%;LDE225 0.75%
11 Celecoxib in Preventing Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Completed NCT00023621 Phase 2 celecoxib
12 Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2 Vismodegib;Aminolevulinic acid %20 topical solution
13 Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Completed NCT01350115 Phase 2 LDE225;Placebo
14 A Study of Two Vismodegib Regimens in Participants With Multiple Basal Cell Carcinomas Completed NCT01815840 Phase 2 Vismodegib;Placebo
15 Open-label Trial of SUBA™-Itraconazole (SUBA-Cap) in Subjects With Basal Cell Carcinoma Nevus Syndrome (BCCNS) Active, not recruiting NCT02354261 Phase 2 SUBA-Itraconazole
16 A Study of the Efficacy and Safety of ASN-002 in Adult Patients With Low-risk Nodular Basal Cell Carcinoma Completed NCT02550678 Phase 1, Phase 2 5-FU
17 Pilot Study of Sonidegib and Buparlisib in Treating Patients With Advanced or Metastatic Basal Cell Carcinoma Terminated NCT02303041 Phase 2 Buparlisib;Sonidegib
18 Combination Chemotherapy in Treating Younger Patients With Newly Diagnosed, Non-metastatic Desmoplastic Medulloblastoma Active, not recruiting NCT02017964 Phase 2 Carboplatin;Cyclophosphamide;Etoposide;Methotrexate;Vincristine Sulfate
19 Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the GLI1 Biomarker in Sporadic Nodular Basal Cell Carcinomas Completed NCT02828111 Phase 2 Patidegib;Vehicle gel
20 Topical Sirolimus in Patients With Basal Cell Nevus Syndrome and in Healthy Participants Completed NCT00433485 Phase 1 sirolimus
21 Vitamin D and Photodynamic Therapy for Treatment of BCC in BCNS Recruiting NCT03483441 Phase 1 PDT
22 Photodynamic Therapy and Vismodegib for Multiple Basal Cell Carcinomas Completed NCT02639117 Phase 1 Vismodegib
23 Development of a Nanosecond Pulsed Electric Field System to Treat Skin Cancer Completed NCT01463709 Phase 1
24 Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus Syndrome Completed NCT02157623 Not Applicable Levulan
25 Study of BMS-833923 in Two Specific Patients With Basal Cell Nevus Syndrome Completed NCT02100371 Not Applicable BMS-833923
26 Vitamin D as a Nutritional Neoadjuvant During Photodynamic Therapy of Basal Cell Carcinoma Recruiting NCT03467789 Not Applicable
27 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
28 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
29 Isotretinoin in Preventing Skin Cancer Completed NCT00025012 Not Applicable isotretinoin
30 A Study to Assess the Effectiveness and Safety of Vismodegib (Erivedge®) in Participants With Advanced Basal Cell Carcinoma (BCC) Active, not recruiting NCT02371967 Vismodegib
31 Levocarnitine in Treating Patients With Vismodegib-Associated Muscle Spasms Completed NCT01893892 Not Applicable
32 A Clinical Trial of Dermacorder for Detecting Malignant Skin Lesions Completed NCT01014819
33 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Basal Cell Nevus Syndrome

Cochrane evidence based reviews: basal cell nevus syndrome

Genetic Tests for Basal Cell Nevus Syndrome

Genetic tests related to Basal Cell Nevus Syndrome:

# Genetic test Affiliating Genes
1 Gorlin Syndrome 30 PTCH1 PTCH2 SUFU

Anatomical Context for Basal Cell Nevus Syndrome

MalaCards organs/tissues related to Basal Cell Nevus Syndrome:

42
Skin, Bone, Heart, Ovary, Eye, Thyroid, Lung

Publications for Basal Cell Nevus Syndrome

Articles related to Basal Cell Nevus Syndrome:

(show top 50) (show all 521)
# Title Authors Year
1
A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features. ( 30962945 )
2019
2
Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients. ( 30754660 )
2019
3
A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome. ( 30997576 )
2019
4
What is the Prevalence of Undiagnosed Nevoid Basal Cell Carcinoma Syndrome in Children With an Odontogenic Keratocyst? ( 30826393 )
2019
5
A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome? ( 30820324 )
2019
6
Vismodegib-resistant basal cell carcinomas in basal cell nevus syndrome: Clinical approach and genetic analysis. ( 29984265 )
2018
7
PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome. ( 29930296 )
2018
8
Basal cell nevus syndrome (Gorlin syndrome): genetic insights, diagnostic challenges, and unmet milestones. ( 29454489 )
2018
9
Odontogenic Keratocysts as First Manifestation of Nevoid Basal Cell Carcinoma Syndrome: Surgical Management and Immunohistochemical Analysis. ( 29621081 )
2018
10
A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome. ( 29544218 )
2018
11
Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome. ( 29381605 )
2018
12
Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome. ( 30140199 )
2018
13
Rhabdomyosarcoma and rhabdomyoma associated with nevoid basal cell carcinoma syndrome: Local treatment strategy. ( 29799139 )
2018
14
Imaging features of uterine and ovarian fibromatosis in Nevoid Basal Cell Carcinoma Syndrome. ( 30651920 )
2018
15
Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data. ( 30411536 )
2018
16
Multiple, Multiloculated, and Recurrent Keratocysts of the Mandible and Maxilla in Association with Gorlin-Goltz (Nevoid Basal-Cell Carcinoma) Syndrome: A Pediatric Case Report and Follow-up over 5 Years. ( 30327736 )
2018
17
Molecular analysis of keratocystic odontogenic tumor cell lines derived from sporadic and basal cell nevus syndrome patients. ( 29039452 )
2017
18
Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment. ( 28951717 )
2017
19
Muckle-Wells syndrome in the setting of basal cell nevus syndrome. ( 28686751 )
2017
20
BASAL CELL NEVUS SYNDROME PRESENTING AS EPIRETINAL MEMBRANE AND MYELINATED NERVE FIBER LAYER. ( 27533646 )
2017
21
Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene. ( 27561271 )
2017
22
Risk Factors for Basal Cell Carcinoma Among Patients With Basal Cell Nevus Syndrome: Development of a Basal Cell Nevus Syndrome Patient Registry. ( 27902821 )
2017
23
Clinical Finding and Management of 12 Orofacial Clefts Cases With Nevoid Basal Cell Carcinoma Syndrome. ( 28471735 )
2017
24
Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome. ( 28363938 )
2017
25
Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome. ( 28342698 )
2017
26
Brain morphology in children with nevoid basal cell carcinoma syndrome. ( 28328116 )
2017
27
Nevoid Basal Cell Carcinoma Syndrome and Hairy Skin Patches. ( 28120347 )
2017
28
Whole-exome sequencing to identify novel mutations of nevoid basal cell carcinoma syndrome in a Chinese population. ( 29081410 )
2017
29
Unusual Neurological Presentation of Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome). ( 28884983 )
2017
30
Conservative Treatment of Multiple Keratocystic Odontogenic Tumors in a Young Patient with Nevoid Basal Cell Carcinoma Syndrome by Decompression: A 7-year Follow-up Study. ( 28650783 )
2017
31
Pediatric nevoid basal cell carcinoma syndrome. ( 29360891 )
2017
32
50 Years Ago in TheJournal ofPediatrics: Multiple Cutaneous Cancers in Children: The Nevoid Basal Cell Carcinoma Syndrome. ( 27346509 )
2016
33
Nevoid Basal Cell Carcinoma Syndrome and dysgerminoma: an incidental association? ( 26333390 )
2016
34
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
35
Hedgehog pathway inhibitor therapy in basal-cell nevus syndrome. ( 27838223 )
2016
36
AKT1 Activation is Obligatory for Spontaneous BCC Tumor Growth in a Murine Model that Mimics Some Features of Basal Cell Nevus Syndrome. ( 27388747 )
2016
37
Dermoscopy for Identification of Basal Cell Carcinomas in Basal Cell Nevus Syndrome During Carbon Dioxide Laser Surgery. ( 26572667 )
2016
38
Intermittent Vismodegib Therapy in Basal Cell Nevus Syndrome. ( 26509945 )
2016
39
Nevoid Basal Cell Carcinoma Syndrome: Report from the Zurich Nevoid Basal Cell Carcinoma Syndrome Cohort. ( 27054559 )
2016
40
Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome). ( 26971503 )
2016
41
Heterozygous PTCH1 Mutations Impact the Bone Metabolism in Patients With Nevoid Basal Cell Carcinoma Syndrome Likely by Regulating SPARC Expression. ( 26890308 )
2016
42
Nevoid Basal Cell Carcinoma Syndrome: A Long-Term Study in a Family. ( 26889355 )
2016
43
Nevoid Basal Cell Carcinoma Syndrome - Clinical and Radiological Findings of Three Cases. ( 27630800 )
2016
44
Treatment of nevoid basal cell carcinoma syndrome: a case report. ( 27847737 )
2016
45
Basal cell nevus syndrome: clinical and molecular review and case report. ( 26356331 )
2016
46
Nevoid Basal cell carcinoma syndrome: a case report and review. ( 25838663 )
2015
47
Conservative treatment protocol of keratocystic odontogenic tumor: report of a case with nevoid Basal cell carcinoma syndrome and literature review. ( 25848161 )
2015
48
Basal cell nevus syndrome or Gorlin syndrome. ( 26564075 )
2015
49
Biallelic alterations of the large tumor suppressor 1 (LATS1) gene in infiltrative, but not superficial, basal cell carcinomas in a Japanese patient with nevoid basal cell carcinoma syndrome. ( 25119020 )
2015
50
A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung. ( 27081528 )
2015

Variations for Basal Cell Nevus Syndrome

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

76
# 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 2460)
# 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, TRP129TER single nucleotide variant Pathogenic
8 PTCH1 NM_000264.4(PTCH1): c.4080C> T (p.Ser1360=) single nucleotide variant Benign/Likely benign rs62637631 GRCh37 Chromosome 9, 98209458: 98209458
9 PTCH1 NM_000264.4(PTCH1): c.4080C> T (p.Ser1360=) single nucleotide variant Benign/Likely benign rs62637631 GRCh38 Chromosome 9, 95447176: 95447176
10 PTCH1 NM_000264.4(PTCH1): c.3907C> T (p.Arg1303Cys) single nucleotide variant Benign/Likely benign rs56102979 GRCh37 Chromosome 9, 98209631: 98209631
11 PTCH1 NM_000264.4(PTCH1): c.3907C> T (p.Arg1303Cys) single nucleotide variant Benign/Likely benign rs56102979 GRCh38 Chromosome 9, 95447349: 95447349
12 PTCH1 NM_000264.4(PTCH1): c.4251C> T (p.His1417=) single nucleotide variant Likely benign rs371960721 GRCh37 Chromosome 9, 98209287: 98209287
13 PTCH1 NM_000264.4(PTCH1): c.4251C> T (p.His1417=) single nucleotide variant Likely benign rs371960721 GRCh38 Chromosome 9, 95447005: 95447005
14 PTCH1 NM_000264.4(PTCH1): c.3889C> T (p.Arg1297Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs372027952 GRCh37 Chromosome 9, 98209649: 98209649
15 PTCH1 NM_000264.4(PTCH1): c.3889C> T (p.Arg1297Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs372027952 GRCh38 Chromosome 9, 95447367: 95447367
16 PTCH1 NM_000264.4(PTCH1): c.1137C> T (p.Tyr379=) single nucleotide variant Benign/Likely benign rs587780690 GRCh37 Chromosome 9, 98241360: 98241360
17 PTCH1 NM_000264.4(PTCH1): c.1137C> T (p.Tyr379=) single nucleotide variant Benign/Likely benign rs587780690 GRCh38 Chromosome 9, 95479078: 95479078
18 PTCH1 NM_000264.4(PTCH1): c.1186C> G (p.Leu396Val) single nucleotide variant Uncertain significance rs371424684 GRCh37 Chromosome 9, 98241311: 98241311
19 PTCH1 NM_000264.4(PTCH1): c.1186C> G (p.Leu396Val) single nucleotide variant Uncertain significance rs371424684 GRCh38 Chromosome 9, 95479029: 95479029
20 PTCH1 NM_000264.4(PTCH1): c.1216-10G> A single nucleotide variant Likely benign rs587780691 GRCh37 Chromosome 9, 98240478: 98240478
21 PTCH1 NM_000264.4(PTCH1): c.1216-10G> A single nucleotide variant Likely benign rs587780691 GRCh38 Chromosome 9, 95478196: 95478196
22 PTCH1 NM_000264.4(PTCH1): c.123T> C (p.Arg41=) single nucleotide variant Likely benign rs368070922 GRCh37 Chromosome 9, 98270521: 98270521
23 PTCH1 NM_000264.4(PTCH1): c.123T> C (p.Arg41=) single nucleotide variant Likely benign rs368070922 GRCh38 Chromosome 9, 95508239: 95508239
24 PTCH1 NM_000264.4(PTCH1): c.1308C> T (p.Asp436=) single nucleotide variant Likely benign rs148471237 GRCh37 Chromosome 9, 98240376: 98240376
25 PTCH1 NM_000264.4(PTCH1): c.1308C> T (p.Asp436=) single nucleotide variant Likely benign rs148471237 GRCh38 Chromosome 9, 95478094: 95478094
26 PTCH1 NM_000264.4(PTCH1): c.134C> G (p.Pro45Arg) single nucleotide variant Uncertain significance rs587780692 GRCh37 Chromosome 9, 98270510: 98270510
27 PTCH1 NM_000264.4(PTCH1): c.134C> G (p.Pro45Arg) single nucleotide variant Uncertain significance rs587780692 GRCh38 Chromosome 9, 95508228: 95508228
28 PTCH1 NM_000264.4(PTCH1): c.141G> C (p.Arg47=) single nucleotide variant Likely benign rs587780693 GRCh37 Chromosome 9, 98270503: 98270503
29 PTCH1 NM_000264.4(PTCH1): c.141G> C (p.Arg47=) single nucleotide variant Likely benign rs587780693 GRCh38 Chromosome 9, 95508221: 95508221
30 PTCH1 NM_000264.4(PTCH1): c.1593C> T (p.Ile531=) single nucleotide variant Likely benign rs587780694 GRCh37 Chromosome 9, 98239050: 98239050
31 PTCH1 NM_000264.4(PTCH1): c.1593C> T (p.Ile531=) single nucleotide variant Likely benign rs587780694 GRCh38 Chromosome 9, 95476768: 95476768
32 PTCH1 NM_000264.4(PTCH1): c.2004C> T (p.Tyr668=) single nucleotide variant Benign/Likely benign rs151216961 GRCh37 Chromosome 9, 98231279: 98231279
33 PTCH1 NM_000264.4(PTCH1): c.2004C> T (p.Tyr668=) single nucleotide variant Benign/Likely benign rs151216961 GRCh38 Chromosome 9, 95468997: 95468997
34 PTCH1 NM_000264.4(PTCH1): c.2019C> T (p.His673=) single nucleotide variant Likely benign rs587780695 GRCh37 Chromosome 9, 98231264: 98231264
35 PTCH1 NM_000264.4(PTCH1): c.2019C> T (p.His673=) single nucleotide variant Likely benign rs587780695 GRCh38 Chromosome 9, 95468982: 95468982
36 PTCH1 NM_000264.4(PTCH1): c.2134C> T (p.Leu712Phe) single nucleotide variant Uncertain significance rs587780696 GRCh37 Chromosome 9, 98231149: 98231149
37 PTCH1 NM_000264.4(PTCH1): c.2134C> T (p.Leu712Phe) single nucleotide variant Uncertain significance rs587780696 GRCh38 Chromosome 9, 95468867: 95468867
38 PTCH1 NM_000264.4(PTCH1): c.2177C> G (p.Pro726Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs587780697 GRCh37 Chromosome 9, 98231106: 98231106
39 PTCH1 NM_000264.4(PTCH1): c.2177C> G (p.Pro726Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs587780697 GRCh38 Chromosome 9, 95468824: 95468824
40 PTCH1 NM_000264.4(PTCH1): c.2304C> T (p.Thr768=) single nucleotide variant Conflicting interpretations of pathogenicity rs1805156 GRCh37 Chromosome 9, 98229654: 98229654
41 PTCH1 NM_000264.4(PTCH1): c.2304C> T (p.Thr768=) single nucleotide variant Conflicting interpretations of pathogenicity rs1805156 GRCh38 Chromosome 9, 95467372: 95467372
42 PTCH1 NM_000264.4(PTCH1): c.2484C> T (p.Asn828=) single nucleotide variant Conflicting interpretations of pathogenicity rs143305989 GRCh37 Chromosome 9, 98229474: 98229474
43 PTCH1 NM_000264.4(PTCH1): c.2484C> T (p.Asn828=) single nucleotide variant Conflicting interpretations of pathogenicity rs143305989 GRCh38 Chromosome 9, 95467192: 95467192
44 PTCH1 NM_000264.4(PTCH1): c.252G> A (p.Gln84=) single nucleotide variant Likely benign rs587780698 GRCh37 Chromosome 9, 98268831: 98268831
45 PTCH1 NM_000264.4(PTCH1): c.252G> A (p.Gln84=) single nucleotide variant Likely benign rs587780698 GRCh38 Chromosome 9, 95506549: 95506549
46 PTCH1 NM_000264.4(PTCH1): c.2560+7C> T single nucleotide variant Benign/Likely benign rs75576651 GRCh37 Chromosome 9, 98229391: 98229391
47 PTCH1 NM_000264.4(PTCH1): c.2560+7C> T single nucleotide variant Benign/Likely benign rs75576651 GRCh38 Chromosome 9, 95467109: 95467109
48 PTCH1 NM_000264.4(PTCH1): c.3919C> T (p.Pro1307Ser) single nucleotide variant Uncertain significance rs574880967 GRCh38 Chromosome 9, 95447337: 95447337
49 PTCH1 NM_000264.4(PTCH1): c.3919C> T (p.Pro1307Ser) single nucleotide variant Uncertain significance rs574880967 GRCh37 Chromosome 9, 98209619: 98209619
50 PTCH1 NM_000264.4(PTCH1): c.735A> G (p.Thr245=) single nucleotide variant Benign/Likely benign rs1805154 GRCh38 Chromosome 9, 95481960: 95481960

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 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 0
2 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 0
3 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 0
4 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 0
5 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 0
6 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 0
7 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 0
8 COSM6982918 YES1 skin,eye,carcinoma,NS c.851G>A p.G284E 18:743289-743289 0
9 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 0
10 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 0
11 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 0
12 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 0
13 COSM4736805 TSC1 skin,eye,carcinoma,NS c.2065C>T p.R689C 9:132903794-132903794 0
14 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 0
15 COSM6971614 TRAF7 skin,eye,carcinoma,NS c.349G>A p.E117K 16:2171264-2171264 0
16 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 0
17 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 0
18 COSM44226 TP53 skin,NS,carcinoma,basal cell carcinoma c.380C>T p.S127F 17:7675232-7675232 0
19 COSM43714 TP53 skin,NS,carcinoma,basal cell carcinoma c.836G>A p.G279E 17:7673784-7673784 0
20 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 0
21 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 0
22 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 0
23 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 0
24 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 0
25 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 0
26 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 0
27 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 0
28 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 0
29 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 0
30 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 0
31 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 0
32 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 0
33 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 0
34 COSM10988 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 0
35 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 0
36 COSM10660 TP53 skin,hand,carcinoma,NS c.818G>A p.R273H 17:7673802-7673802 0
37 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 0
38 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 0
39 COSM45444 TP53 skin,eye,carcinoma,NS c.587G>T p.R196L 17:7674944-7674944 0
40 COSM45322 TP53 skin,NS,carcinoma,basal cell carcinoma c.757A>G p.T253A 17:7674206-7674206 0
41 COSM10995 TP53 skin,NS,carcinoma,basal cell carcinoma c.580C>T p.L194F 17:7674951-7674951 0
42 COSM10992 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>G p.R282G 17:7673776-7673776 0
43 COSM43592 TP53 skin,NS,carcinoma,basal cell carcinoma c.395A>T p.K132M 17:7675217-7675217 0
44 COSM10867 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 17:7673823-7673823 0
45 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 17:7675993-7675993 0
46 COSM10726 TP53 skin,hand,carcinoma,NS c.856G>A p.E286K 17:7673764-7673764 0
47 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 17:7674220-7674220 0
48 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
49 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 0
50 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 0

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:

38
# 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
12.1 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 77)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of canonical Wnt signaling pathway GO:0090090 9.99 GLI1 GLI3 ROR2 SHH
2 anterior/posterior pattern specification GO:0009952 9.95 GLI2 GLI3 SHH SMO
3 lung development GO:0030324 9.93 GLI1 GLI2 GLI3 SHH
4 central nervous system development GO:0007417 9.92 GLI3 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 canonical Wnt signaling pathway GO:0060070 9.89 GLI1 PORCN SHH
9 determination of left/right symmetry GO:0007368 9.89 SHH SMO SUFU
10 odontogenesis of dentin-containing tooth GO:0042475 9.89 GLI2 GLI3 SHH SMO
11 cell fate commitment GO:0045165 9.88 GAS1 ROR2 SHH
12 heart looping GO:0001947 9.88 SHH SMO SUFU
13 embryonic limb morphogenesis GO:0030326 9.88 GLI3 PTCH1 SHH
14 embryonic organ development GO:0048568 9.88 GLI3 PTCH1 SHH SMO
15 branching involved in ureteric bud morphogenesis GO:0001658 9.87 GLI3 PTCH1 SHH
16 skin development GO:0043588 9.87 PTCH2 SHH SUFU
17 positive regulation of smoothened signaling pathway GO:0045880 9.87 GLI1 KIF7 SHH SMO
18 liver regeneration GO:0097421 9.86 GLI1 GLI3 PTCH1
19 mammary gland development GO:0030879 9.86 GLI2 GLI3 PTCH1
20 pattern specification process GO:0007389 9.85 GLI2 GLI3 PTCH1 SHH SMO
21 regulation of smoothened signaling pathway GO:0008589 9.84 GAS1 GLI1 GLI2 PTCH1
22 positive regulation of protein import into nucleus GO:0042307 9.83 GLI3 SHH SMO
23 branching morphogenesis of an epithelial tube GO:0048754 9.83 GLI2 GLI3 SHH
24 spinal cord motor neuron differentiation GO:0021522 9.83 GLI2 GLI3 PTCH1 SHH
25 anatomical structure development GO:0048856 9.82 GLI2 GLI3 SHH
26 proximal/distal pattern formation GO:0009954 9.81 GLI1 GLI2 GLI3
27 anatomical structure formation involved in morphogenesis GO:0048646 9.8 GLI2 GLI3 SHH
28 renal system development GO:0072001 9.8 PTCH1 SHH SMO
29 positive regulation of neuroblast proliferation GO:0002052 9.79 GLI3 SHH SMO
30 somite development GO:0061053 9.79 PTCH1 SHH SMO
31 developmental growth GO:0048589 9.77 GAS1 GLI2 GLI3 SHH SMO
32 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.76 GLI2 GLI3 PTCH1
33 limb morphogenesis GO:0035108 9.75 GLI3 PTCH1
34 hindbrain development GO:0030902 9.75 GLI2 SHH
35 cell fate specification GO:0001708 9.75 SHH SMO
36 male genitalia development GO:0030539 9.75 ROR2 SHH
37 osteoblast development GO:0002076 9.74 GLI2 SHH
38 cell fate determination GO:0001709 9.74 PTCH1 PTCH2
39 embryonic digestive tract development GO:0048566 9.74 GLI2 GLI3
40 embryonic digestive tract morphogenesis GO:0048557 9.74 GLI3 SHH
41 cellular response to cholesterol GO:0071397 9.74 PTCH1 SMO
42 embryonic morphogenesis GO:0048598 9.74 GLI3 SHH
43 digestive tract morphogenesis GO:0048546 9.73 GLI1 SHH
44 mammary gland epithelial cell differentiation GO:0060644 9.73 PTCH1 SMO
45 thalamus development GO:0021794 9.73 SHH SMO
46 commissural neuron axon guidance GO:0071679 9.73 PTCH1 SMO
47 cerebellar cortex morphogenesis GO:0021696 9.73 GLI1 GLI2 SMO
48 prostate gland development GO:0030850 9.73 GLI1 GLI3 PTCH1 SHH
49 negative thymic T cell selection GO:0045060 9.72 GLI3 SHH
50 positive regulation of alpha-beta T cell differentiation GO:0046638 9.72 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 family protein binding GO:0097108 9.26 PTCH1 PTCH2
2 hedgehog receptor activity GO:0008158 9.16 PTCH1 PTCH2
3 smoothened binding GO:0005119 8.96 PTCH1 PTCH2
4 patched binding GO:0005113 8.8 PTCH1 SHH SMO

Sources for Basal Cell Nevus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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