BCNS
MCID: BSL036
MIFTS: 72

Basal Cell Nevus Syndrome (BCNS)

Categories: Fetal diseases, Genetic diseases, Neuronal 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 56 12 24 52 25 58 73 36 13 43 39 71
Nevoid Basal Cell Carcinoma Syndrome 56 12 74 24 52 25 58 54 15
Gorlin Syndrome 56 12 24 52 25 58 29 6
Gorlin-Goltz Syndrome 56 52 25 58
Nbccs 56 24 25 58
Bcns 56 24 25 73
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies 56 52
Nevoid Basal Cell Carcinoma Syndrome; Nbccs 56
Gorlin Syndrome or Gorlin-Goltz Syndrome 73

Characteristics:

Orphanet epidemiological data:

58
gorlin syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
paternal age effect
abnormal sensitivity to therapeutic radiation


HPO:

31
basal cell nevus syndrome:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity


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:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Basal Cell Nevus Syndrome

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. In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Individuals with Gorlin syndrome typically begin to develop basal cell carcinomas during adolescence or early adulthood. These cancers occur most often on the face, chest, and back. The number of basal cell carcinomas that develop during a person's lifetime varies among affected individuals. Some people with Gorlin syndrome never develop any basal cell carcinomas, while others may develop thousands of these cancers. Individuals with lighter skin are more likely to develop basal cell carcinomas than are people with darker skin. The number of carcinomas may be reduced with ongoing treatment. Most people with Gorlin syndrome also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors. These tumors usually first appear during adolescence, and new tumors form until about age 30. Keratocystic odontogenic tumors rarely develop later in adulthood. If untreated, these tumors may cause painful facial swelling and tooth displacement. Individuals with Gorlin syndrome have a higher risk than the general population of developing other tumors. A small proportion of affected individuals develop a brain tumor called medulloblastoma during childhood. A type of benign tumor called a fibroma can occur in the heart or in a woman's ovaries. Heart (cardiac) fibromas often do not cause any symptoms, but they may obstruct blood flow or cause irregular heartbeats (arrhythmia). Ovarian fibromas are not thought to affect a woman's ability to have children (fertility). Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull. These signs and symptoms are typically apparent from birth or become evident in early childhood.

MalaCards based summary : Basal Cell Nevus Syndrome, also known as nevoid basal cell carcinoma syndrome, is related to basal cell carcinoma 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 Propranolol and Verteporfin have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related phenotypes are cerebral calcification and neoplasm

NIH Rare Diseases : 52 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 .

KEGG : 36 Basal cell nevus syndrome is a rare autosomal dominant disorder that predisposes to tumor formation especially basal cell carcinomas associated with developmental abnormalities such as odontogenic keratocyst of the mandible, calcification of the falx cerebri, multiple nevi, and skeletal anomalies. The genetic basis of the syndrome is defective hedgehog signaling pathway.

UniProtKB/Swiss-Prot : 73 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 : 74 Nevoid basal-cell carcinoma syndrome (NBCCS), is an inherited medical condition involving defects within... more...

More information 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 423)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 32.0 TP53 SUFU SMO SHH PTCH2 PTCH1
2 focal dermal hypoplasia 31.4 SUFU SHH PTCH2 PTCH1 PORCN
3 basal cell carcinoma, multiple 31.2 SMO PTCH2 PTCH1
4 embryonal rhabdomyosarcoma 31.0 TP53 PTCH1 MYCN GLI1
5 skin carcinoma 30.9 TP53 SUFU SHH PTCH1 GLI2 GLI1
6 skin benign neoplasm 30.8 PTCH1 NF1 GLI2 GLI1
7 meningioma, familial 30.8 TP53 SUFU SHH PTCH2 PTCH1 NF1
8 orofacial cleft 30.7 SHH PTCH1 KDM4C IHH GLI3 GLI2
9 autosomal genetic disease 30.7 TP53 PTCH1 NF1 KDM4C
10 holoprosencephaly 1 30.6 SHH GLI2 GAS1
11 neural tube defects 30.6 TP53 SUFU SHH PTCH1 NF1 GLI3
12 ameloblastoma 30.6 TP53 SMO PTCH1 GLI1
13 familial retinoblastoma 30.6 TP53 NF1 MYCN
14 polydactyly 30.6 SHH GLI3 GLI2 GLI1
15 childhood medulloblastoma 30.6 TP53 SUFU PTCH1 MYCN GLI2
16 rhabdoid cancer 30.5 TP53 SHH KDM4C
17 ganglioglioma 30.5 TP53 NF1 MYCN KDM4C
18 rhabdomyosarcoma 30.5 TP53 SHH PTCH1 MYCN GLI1
19 keratocystic odontogenic tumor 30.4 TP53 SUFU SMO SHH PTCH1 GLI1
20 cleft palate, isolated 30.4 SHH PTCH1 IHH GLI3 GLI2
21 coloboma of macula 30.3 SHH PTCH1 PORCN KIF7 GLI3
22 nodular medulloblastoma 30.3 SUFU SHH PTCH1 MYCN GLI2 GLI1
23 brachydactyly 30.3 SHH ROR2 RAB23 PTCH1 PORCN IHH
24 chromosome 2q35 duplication syndrome 30.2 SHH RAB23 PTCH1 PORCN IHH GLI3
25 medulloblastoma 30.2 TP53 SUFU SMO SHH PTCH2 PTCH1
26 meier-gorlin syndrome 1 12.9
27 meier-gorlin syndrome 4 12.7
28 meier-gorlin syndrome 2 12.7
29 meier-gorlin syndrome 3 12.7
30 meier-gorlin syndrome 5 12.7
31 meier-gorlin syndrome 6 12.7
32 meier-gorlin syndrome 7 12.7
33 meier-gorlin syndrome 8 12.7
34 9q22.3 microdeletion 11.8
35 basal cell carcinoma 1 11.7
36 hypertelorism, microtia, facial clefting syndrome 11.5
37 bazex syndrome 11.5
38 soft tissue sarcoma 11.5
39 short tarsus with absence of lower eyelashes 11.5
40 oculomaxillofacial dysostosis 11.3
41 microphthalmia, syndromic 2 11.2
42 leopard syndrome 11.2
43 craniofacial microsomia 11.2
44 ovary leiomyosarcoma 10.7 SUFU PTCH1
45 holoprosencephaly, recurrent infections, and monocytosis 10.6 PTCH1 GLI2
46 cerebellar medulloblastoma 10.6 SHH PTCH1 GLI1
47 holoprosencephaly 5 10.6 SHH PTCH1 GLI2
48 calcifying epithelial odontogenic tumor 10.6 TP53 PTCH1 GLI2
49 holoprosencephaly 2 10.6 SHH PTCH1 GLI2
50 hemimelia 10.6 GLI3 GLI2 GLI1

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:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0002514
2 neoplasm 58 31 hallmark (90%) Very frequent (99-80%) HP:0002664
3 melanocytic nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000995
4 palmar pits 58 31 hallmark (90%) Very frequent (99-80%) HP:0010610
5 plantar pits 58 31 hallmark (90%) Very frequent (99-80%) HP:0010612
6 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
7 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
8 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
9 abnormality of the neck 58 31 frequent (33%) Frequent (79-30%) HP:0000464
10 vertebral fusion 58 31 frequent (33%) Frequent (79-30%) HP:0002948
11 vertebral wedging 58 31 frequent (33%) Frequent (79-30%) HP:0008422
12 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
13 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
14 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
15 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
16 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
17 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
18 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
19 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
20 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
21 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
22 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
23 hypogonadotrophic hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000044
24 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
25 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
26 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
27 hemivertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0002937
28 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
29 abnormality of the sense of smell 58 31 occasional (7.5%) Occasional (29-5%) HP:0004408
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 motor delay 31 HP:0001270
36 kyphoscoliosis 31 HP:0002751
37 microphthalmia 31 HP:0000568
38 supernumerary ribs 31 HP:0005815
39 cleft upper lip 31 HP:0000204
40 spina bifida 31 HP:0002414
41 down-sloping shoulders 31 HP:0200021
42 bifid ribs 31 HP:0000892
43 abnormality of the sternum 31 HP:0000766
44 basal cell carcinoma 31 HP:0002671
45 cardiac rhabdomyoma 31 HP:0009729
46 medulloblastoma 31 HP:0002885
47 hamartomatous stomach polyps 31 HP:0004795
48 milia 31 HP:0001056
49 short distal phalanx of the thumb 31 HP:0009650
50 polydactyly 31 HP:0010442

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
glaucoma
iris coloboma
lateral displacement of the inner canthi
more
Skeletal Limbs:
brachydactyly
short 4th metacarpal
short thumb terminal phalanx

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

Neurologic Central Nervous System:
medulloblastoma
mental retardation (less common)
calcification 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

Skeletal Spine:
scoliosis
kyphoscoliosis
abnormal cervical vertebrae

Head And Neck Mouth:
cleft palate
cleft lip

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

Abdomen Gastrointestinal:
hamartomatous stomach polyps
lymphomesenteric cysts, often calcified

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:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.02 PTCH2
2 Decreased viability GR00221-A-1 10.02 GLI2 IHH NF1 PTCH2
3 Decreased viability GR00221-A-2 10.02 GLI2 IHH NF1 PTCH2 ROR2
4 Decreased viability GR00221-A-3 10.02 PTCH2 ROR2
5 Decreased viability GR00221-A-4 10.02 NF1 PTCH2 ROR2
6 Decreased viability GR00231-A 10.02 ROR2
7 Decreased viability GR00301-A 10.02 PTCH2
8 Decreased viability GR00342-S-1 10.02 ROR2
9 Decreased viability GR00342-S-3 10.02 ROR2
10 Decreased viability GR00402-S-2 10.02 GLI2 NF1 PTCH2 ROR2
11 shRNA abundance <= 50% GR00343-S 9.32 DHH GLI1 GLI2 IHH NF1 PTCH2

MGI Mouse Phenotypes related to Basal Cell Nevus Syndrome:

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.52 DHH GLI1 GLI2 GLI3 HHIP IHH
2 embryo MP:0005380 10.51 GAS1 GLI1 GLI2 GLI3 HHIP IHH
3 craniofacial MP:0005382 10.5 GAS1 GLI1 GLI2 GLI3 HHIP IHH
4 growth/size/body region MP:0005378 10.5 GAS1 GLI1 GLI2 GLI3 HHIP IHH
5 cellular MP:0005384 10.48 GAS1 GLI1 GLI2 GLI3 HHIP IHH
6 mortality/aging MP:0010768 10.46 GAS1 GLI1 GLI2 GLI3 HHIP IHH
7 limbs/digits/tail MP:0005371 10.43 GAS1 GLI1 GLI2 GLI3 IHH KIF7
8 nervous system MP:0003631 10.43 DHH GAS1 GLI1 GLI2 GLI3 HHIP
9 cardiovascular system MP:0005385 10.42 GAS1 GLI3 IHH KIF7 MYCN NF1
10 homeostasis/metabolism MP:0005376 10.42 DHH GAS1 GLI2 GLI3 KDM4C KIF7
11 endocrine/exocrine gland MP:0005379 10.39 DHH GLI1 GLI2 GLI3 HHIP IHH
12 integument MP:0010771 10.31 GLI2 GLI3 KDM4C NF1 PORCN PTCH1
13 hearing/vestibular/ear MP:0005377 10.21 GAS1 GLI2 GLI3 NF1 PTCH1 ROR2
14 muscle MP:0005369 10.19 GLI2 IHH KIF7 MYCN NF1 PTCH1
15 normal MP:0002873 10.18 GLI1 GLI2 GLI3 MYCN NF1 PORCN
16 no phenotypic analysis MP:0003012 10.17 GLI1 GLI2 GLI3 IHH KDM4C KIF7
17 neoplasm MP:0002006 10.08 GLI1 KDM4C NF1 PTCH1 PTCH2 SHH
18 reproductive system MP:0005389 10.07 DHH GLI1 GLI2 GLI3 KIF7 MYCN
19 respiratory system MP:0005388 10.03 GAS1 GLI1 GLI2 GLI3 HHIP IHH
20 renal/urinary system MP:0005367 9.97 GLI1 GLI3 MYCN NF1 PORCN PTCH1
21 pigmentation MP:0001186 9.91 GAS1 GLI3 NF1 PORCN PTCH1 SUFU
22 skeleton MP:0005390 9.83 GAS1 GLI2 GLI3 IHH KIF7 MYCN
23 vision/eye MP:0005391 9.53 GAS1 GLI2 GLI3 HHIP IHH 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 83)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
2
Verteporfin Approved, Investigational Phase 3 129497-78-5
3 Antihypertensive Agents Phase 2, Phase 3
4 Neurotransmitter Agents Phase 2, Phase 3
5 Anti-Arrhythmia Agents Phase 2, Phase 3
6 Adrenergic beta-Antagonists Phase 2, Phase 3
7 Adrenergic Antagonists Phase 2, Phase 3
8 Vasodilator Agents Phase 2, Phase 3
9 Adrenergic Agents Phase 2, Phase 3
10 Dermatologic Agents Phase 3
11 Photosensitizing Agents Phase 3
12
Tazarotene Approved, Investigational Phase 2 118292-40-3 5381
13
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
14
Aminolevulinic acid Approved Phase 2 106-60-5 137
15
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
16
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
17
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
18
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
19
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
20
Etoposide Approved Phase 2 33419-42-0 36462
21
leucovorin Approved Phase 2 58-05-9 6006 143
22
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
23
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
24
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
25
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
26
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
27
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
28 Vitamin B3 Phase 2
29 Keratolytic Agents Phase 2
30 Nicotinic Acids Phase 2
31 Pharmaceutical Solutions Phase 2
32 Analgesics, Non-Narcotic Phase 2
33 Anti-Inflammatory Agents, Non-Steroidal Phase 2
34 Cyclooxygenase 2 Inhibitors Phase 2
35 Anti-Inflammatory Agents Phase 2
36 Cyclooxygenase Inhibitors Phase 2
37 Analgesics Phase 2
38 interferons Phase 1, Phase 2
39 Anti-Infective Agents Phase 2
40 Immunologic Factors Phase 2
41 Antifungal Agents Phase 2
42 Immunosuppressive Agents Phase 2
43 Vitamin B Complex Phase 2
44 Vitamin B9 Phase 2
45 Folate Phase 2
46 Hormones Phase 2
47 Antirheumatic Agents Phase 2
48 Cytochrome P-450 Enzyme Inhibitors Phase 2
49 Cytochrome P-450 CYP3A Inhibitors Phase 2
50
Hydroxyitraconazole Phase 2

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Double-blind, Vehicle-controlled, Phase 3 Efficacy and Safety 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 Active, not recruiting NCT03703310 Phase 3 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
2 Melablock: A Multicentre Randomized, Double---blinded and Placebo---controlled Clinical Trial on the Efficacy and Safety of Once Daily Propranolol 80 mg Retard for the Prevention of Cutaneous Malignant Melanoma Recurrence Not yet recruiting NCT02962947 Phase 2, Phase 3 Propranolol;Placebo
3 A Randomized, Placebo-Controlled, Masked, Multicenter Phase III Study Of Photodynamic Therapy With Verteporfin For Injection (VFI) For The Treatment Of Multiple Basal Cell Carcinoma Terminated NCT00049959 Phase 3 verteporfin PDT
4 A Randomized, Double-blind, Vehicle-controlled, Multicenter Trial of Topically Administered LDE225 Cream (0.75% Bid) to Evaluate Clearance of Basal Cell Carcinoma in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome Withdrawn NCT03070691 Phase 2, Phase 3 LDE225B;Vehicle
5 A Phase II, Double-blind, Randomized, Proof-of-Concept, Dose-ranging Trial Evaluating the Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Adult Patients With Nevoid Basal Cell Carcinoma Syndrome Completed NCT01350115 Phase 2 LDE225;Placebo
6 A Double-blind, Randomized, Vehicle-controlled Proof of Concept (PoC) Study to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of Multiple Topical Administrations of LDE225 (a Specific Smoothened Inhibitor) on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Followed by an Open Label, Randomized Expansion Group to Test Two Different Strengths of an Improved LDE225 Formulation for Extended Treatment Durations Completed NCT00961896 Phase 2 Vehicle;LDE225 0.25%;LDE225 0.75%
7 Double-Blind, Randomized, Vehicle-Controlled Proof of Concept Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT02762084 Phase 2 Patidegib;Vehicle gel
8 A Phase II Single Arm Open-Label Clinical Trial of Chemotherapy of BCC's With Tazarotene 0.1% in Subjects With Basal Cell Nevus Syndrome Completed NCT00489086 Phase 2 tazarotene
9 A Phase II Randomized, Double-Blind, Vehicle-Controlled, Crossover Clinical Trial of Tazarotene 0.1% and Vehicle Cream Each Applied Once-Daily for 12 or 24 Months in Subjects With Basal Cell Nevus Syndrome Completed NCT00783965 Phase 2 tazarotene
10 Double-Blind, Dose Escalating, Randomized, Vehicle-Controlled Proof of Concept 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
11 A Randomized, Phase II Multicenter Trial Evaluating the Efficacy and Safety of a Systemic Hedgehog Pathway Antagonist (GDC-0449) in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2 GDC-0449
12 A Phase II Randomized, Double-Blind, Placebo-Controlled Clinical Trial of Celecoxib in Subjects With Basal Cell Nevus Syndrome Completed NCT00023621 Phase 2 celecoxib
13 A Randomized, Double-blinded, Regimen-controlled, Phase II, Multicenter Study to Assess the Efficacy and Safety of Two Different Vismodegib Regimens in Patients With Multiple Basal Cell Carcinomas Completed NCT01815840 Phase 2 Vismodegib;Placebo
14 A Phase II Randomized, Open Label Trial Comparing the Effects of Intermittent Vismodegib Versus PDT on the Maintenance of Benefit Following 7 Months of Continuous Vismodegib Treatment in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2 Vismodegib;Aminolevulinic acid %20 topical solution
15 A Phase 1/2a Study of the Efficacy and Safety of ASN-002 Alone or in Combination With 5-FU in Adult Patients With Low-risk Nodular Basal Cell Carcinoma Completed NCT02550678 Phase 1, Phase 2 5-FU
16 A Phase 2, Single-center, Single-arm, Open Label Trial of Vismodegib in Patients With Keratocystic Odontogenic Tumors Completed NCT02366312 Phase 2 vismodegib
17 Phase IIb Open-label Trial of SUBA™-Itraconazole in Subjects With Basal Cell Carcinoma Nevus Syndrome (BCCNS) Active, not recruiting NCT02354261 Phase 2 SUBA-Itraconazole
18 A Phase II Study for the Treatment of Non-metastatic Nodular Desmoplastic Medulloblastoma in Children Less Than 4 Years of Age Active, not recruiting NCT02017964 Phase 2 Carboplatin;Cyclophosphamide;Etoposide;Methotrexate;Vincristine Sulfate
19 A Multicenter, Randomized, Double Blind, Vehicle-controlled, Phase 2 Efficacy and Safety Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Patients With Non-Gorlin High Frequency BCC Not yet recruiting NCT04155190 Phase 2 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
20 A Phase 1b/2a Study of ASN-002 to Treat Basal Cell Carcinomas (BCCs) in Individuals With Basal Cell Nevus Syndrome (BCNS) Suspended NCT03208296 Phase 1, Phase 2
21 An Open-Label Pilot Study to Evaluate the Efficacy and Safety of a Combination Treatment of Sonidegib (LDE225) and Buparlisib (BKM120) For the Treatment of Advanced Basal Cell Carcinomas Terminated NCT02303041 Phase 2 Buparlisib;Sonidegib
22 Trial of Nivolumab With Vismodegib in Patients With Basal Cell Nevus Syndrome (BCNS) Withdrawn NCT03767439 Phase 2 Vismodegib;Nivolumab;Ipilimumab
23 In Vivo and In Vitro Pharmacology of Sirolimus in Subjects With Basal Cell Nevus Syndrome Completed NCT00433485 Phase 1 sirolimus
24 Development of a Nanosecond Pulsed Electric Field System to Treat Skin Cancer Completed NCT01463709 Phase 1
25 Photodynamic Therapy and Vismodegib for Multiple Basal Cell Carcinomas Completed NCT02639117 Phase 1 Vismodegib
26 Vitamin D as a Nutritional Neoadjuvant During Photodynamic Therapy of Basal Cell Carcinoma in Basal Cell Nevus Syndrome Recruiting NCT03483441 Phase 1 PDT
27 Pilot Trial Comparing Two Different Wavelengths of Light (Blue Versus Red) During Levulan™-Based Photodynamic Therapy of Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Completed NCT02157623 Levulan
28 Extension Protocol of BMS-833923 in Subjects With Basal Cell Nevus Syndrome Completed NCT02100371 BMS-833923
29 Double-blind, Randomized, Placebo-controlled Two-period Crossover Study to Assess the Effect of Levocarnitine on Vismodegib-associated Muscle Spasms Completed NCT01893892
30 Use Of Isotretinion For Prevention Of Skin Cancer In Patients With Xeroderma Pigmentosum Or Nevoid Basal Cell Carcinoma Syndrome Completed NCT00025012 isotretinoin
31 Regular Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients, Particularly in Xeroderma Pigmentosum and Basal Cell Nevus Syndrome Completed NCT00555633
32 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
33 A Phase I Clinical Trial of Dermacorder for Detecting Malignant Skin Lesions Completed NCT01014819
34 Vitamin D as a Nutritional Neoadjuvant During Photodynamic Therapy of Basal Cell Carcinoma in Basal Cell Nevus Syndrome Recruiting NCT03467789
35 Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Cancer Recruiting NCT00001163
36 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Basal Cell Nevus Syndrome

Cochrane evidence based reviews: basal cell nevus syndrome

Genetic Tests for Basal Cell Nevus Syndrome

Genetic tests related to Basal Cell Nevus Syndrome:

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

Anatomical Context for Basal Cell Nevus Syndrome

MalaCards organs/tissues related to Basal Cell Nevus Syndrome:

40
Skin, Heart, Bone, Ovary, Brain, Eye, Lung

Publications for Basal Cell Nevus Syndrome

Articles related to Basal Cell Nevus Syndrome:

(show top 50) (show all 1124)
# Title Authors PMID Year
1
Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. 61 24 56 6
23479190 2013
2
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. 61 24 56 6
8681379 1996
3
Human homolog of patched, a candidate gene for the basal cell nevus syndrome. 54 61 56 6
8658145 1996
4
Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. 54 61 24 56
9931336 1999
5
Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. 54 61 24 56
8042673 1994
6
Identification of a SUFU germline mutation in a family with Gorlin syndrome. 56 6
19533801 2009
7
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. 56 6
18285427 2008
8
Gorlin syndrome with ulcerative colitis in a Japanese girl. 56 6
12900905 2003
9
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. 61 24 56
9096761 1997
10
Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. 54 61 56
19557015 2009
11
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. 54 61 56
14699618 2004
12
Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome. 54 61 56
11312426 2001
13
Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3. 54 61 56
7835901 1994
14
Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. 54 61 56
8001963 1994
15
Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity. 54 61 56
8352281 1993
16
Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. 24 56
8326488 1993
17
The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. 24 56
1931625 1991
18
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. 61 56
22918513 2013
19
Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome. 61 6
22572734 2012
20
Patched1 haploinsufficiency increases adult bone mass and modulates Gli3 repressor activity. 61 6
18477452 2008
21
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 54 61 24
16301862 2005
22
DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. 54 61 24
16088933 2005
23
Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. 54 61 24
15545745 2004
24
DNA damage and repair in Gorlin syndrome and normal fibroblasts after aminolevulinic acid photodynamic therapy: a comet assay study. 54 61 24
14626660 2003
25
Mutations in SUFU predispose to medulloblastoma. 61 6
12068298 2002
26
Bilateral hyperplasia of the mandibular coronoid processes in patients with nevoid basal cell carcinoma syndrome: an undescribed sign. 61 56
12116218 2002
27
Nevoid Basal Cell Carcinoma Syndrome 61 6
20301330 2002
28
Bilateral hyperplasia of the mandibular coronoid processes associated with the nevoid basal cell carcinoma syndrome in an Italian boy. 61 56
11338037 2001
29
Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. 61 56
10066029 1999
30
Nevoid basal cell carcinoma syndrome in a black child. 61 56
9486718 1998
31
Nevoid basal cell carcinoma syndrome with medulloblastoma in an African-American boy: a rare case illustrating gene-environment interaction. 61 56
9096762 1997
32
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. 61 56
8981943 1997
33
Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC). 61 56
8042672 1994
34
Nevoid basal-cell carcinoma syndrome. 61 56
3547011 1987
35
Familial subconjunctival epithelial cysts associated with the nevoid basal cell carcinoma syndrome. 61 56
3800416 1987
36
The multiple basal cell nevus syndrome: a cytogenetic study of six cases. 61 56
3943073 1986
37
The multiple nevoid basal cell carcinoma syndrome. Report of its occurrence in four generations of a family. 61 56
7417945 1980
38
The basal cell nevus syndrome: disasters occurring among a series of 36 patients. 61 56
509397 1979
39
Familial basal cell nevus syndrome. 61 56
730159 1978
40
Basal-cell-nevus syndrome and gastrointestinal polyposis. 61 56
661854 1978
41
Craniofacial morphology in the nevoid basal cell carcinoma syndrome. 61 56
826494 1976
42
Older paternal age and fresh gene mutation: data on additional disorders. 61 56
1110452 1975
43
Pursuit of the pits in the nevoid basal cell carcinoma syndrome. 61 56
5501899 1970
44
Multiple palmar basal cell epitheliomas in basal cell nevus syndrome. 61 56
5424485 1970
45
Basal cell nevus syndrome with inflammatory disease of the bowel. 61 56
5761802 1969
46
Linkage analysis of the nevoid basal cell carcinoma syndrome. 61 56
5715624 1968
47
The basal cell nevus syndrome. 61 56
5648943 1968
48
The basal cell nevus syndrome and inflammatory disease of the bowel. 61 56
5641308 1968
49
The nevoid basal cell carcinoma syndrome. 61 56
4960000 1967
50
Basal cell nevus syndrome. Combined clinical staff conference at the National Institutes of Health. 61 56
4285384 1966

Variations for Basal Cell Nevus Syndrome

ClinVar genetic disease variations for Basal Cell Nevus Syndrome:

6 (show top 50) (show all 1182) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SUFU NM_016169.3(SUFU):c.1022+1G>ASNV Pathogenic 3571 rs587776578 10:104359302-104359302 10:102599545-102599545
2 PTCH1 NM_001083602.2(PTCH1):c.387-1G>CSNV Pathogenic 379374 rs1057520590 9:98244486-98244486 9:95482204-95482204
3 PTCH1 NM_001083602.2(PTCH1):c.957del (p.Asn320fs)deletion Pathogenic 409211 rs1060502297 9:98241342-98241342 9:95479060-95479060
4 PTCH1 NM_001083602.2(PTCH1):c.1405-2A>GSNV Pathogenic 419508 rs1064793921 9:98238443-98238443 9:95476161-95476161
5 PTCH1 NM_001083602.2(PTCH1):c.392G>A (p.Trp131Ter)SNV Pathogenic 419509 rs1064793922 9:98244480-98244480 9:95482198-95482198
6 PTCH1 NM_001083602.2(PTCH1):c.2421C>G (p.Tyr807Ter)SNV Pathogenic 453824 rs1554692291 9:98224222-98224222 9:95461940-95461940
7 PTCH1 NM_001083602.2(PTCH1):c.1385dup (p.Asn462fs)duplication Pathogenic 453793 rs1554698258 9:98239059-98239060 9:95476777-95476778
8 PTCH1 NM_001083602.2(PTCH1):c.723dup (p.Ala242fs)duplication Pathogenic 453918 rs1554699837 9:98242695-98242696 9:95480413-95480414
9 SUFU NM_016169.3(SUFU):c.585_586dup (p.Thr196fs)duplication Pathogenic 453967 rs1554852279 10:104352468-104352469 10:102592711-102592712
10 PTCH1 NM_001083602.2(PTCH1):c.205C>T (p.Arg69Ter)SNV Pathogenic 428839 rs1131690986 9:98248148-98248148 9:95485866-95485866
11 PTCH1 NM_001083602.2(PTCH1):c.609_612del (p.Lys203_Lys204insTer)deletion Pathogenic 428817 rs1131690969 9:98242807-98242810 9:95480525-95480528
12 PTCH1 NM_001083602.2(PTCH1):c.688del (p.Cys230fs)deletion Pathogenic 428840 rs1131690987 9:98242731-98242731 9:95480449-95480449
13 PTCH1 deletion Pathogenic 453767 9:95446906-95508367
14 SUFU NM_016169.3(SUFU):c.436C>T (p.Arg146Ter)SNV Pathogenic 406388 rs1060501109 10:104309845-104309845 10:102550088-102550088
15 SUFU NM_016169.3(SUFU):c.171dup (p.Val58fs)duplication Pathogenic 406395 rs1554840869 10:104264079-104264080 10:102504322-102504323
16 PTCH1 NM_001083602.2(PTCH1):c.543C>A (p.Tyr181Ter)SNV Pathogenic 409170 rs1060502281 9:98244236-98244236 9:95481954-95481954
17 PTCH1 NM_001083602.2(PTCH1):c.2776G>T (p.Glu926Ter)SNV Pathogenic 409163 rs1060502278 9:98220489-98220489 9:95458207-95458207
18 SUFU NM_016169.3(SUFU):c.341del (p.Ser114fs)deletion Pathogenic 406387 rs1060501108 10:104309750-104309750 10:102549993-102549993
19 PTCH1 NM_001083602.2(PTCH1):c.1110del (p.Asp370fs)deletion Pathogenic 409199 rs1060502295 9:98240376-98240376 9:95478094-95478094
20 PTCH1 NM_001083602.2(PTCH1):c.1997_1998TC[1] (p.Ser667fs)short repeat Pathogenic 409193 rs1060502292 9:98231085-98231086 9:95468803-95468804
21 PTCH1 NM_001083602.2(PTCH1):c.2144dup (p.Pro716fs)duplication Pathogenic 409198 rs1060502294 9:98229615-98229616 9:95467333-95467334
22 PTCH1 NM_001083602.2(PTCH1):c.2805T>A (p.Tyr935Ter)SNV Pathogenic 409212 rs1060502298 9:98220460-98220460 9:95458178-95458178
23 PTCH1 NM_001083602.2(PTCH1):c.3166_3167del (p.Met1056fs)deletion Pathogenic 409150 rs1060502273 9:98215844-98215845 9:95453562-95453563
24 PTCH1 NM_001083602.2(PTCH1):c.510G>A (p.Trp170Ter)SNV Pathogenic 409184 rs1060502287 9:98244269-98244269 9:95481987-95481987
25 PTCH1 NM_001083602.2(PTCH1):c.870-2A>TSNV Pathogenic 409147 rs1060502271 9:98241431-98241431 9:95479149-95479149
26 PTCH1 NM_001083602.2(PTCH1):c.1008_1009AT[1] (p.Tyr337fs)short repeat Pathogenic 409183 rs1060502286 9:98241288-98241289 9:95479006-95479007
27 PTCH1 NM_001083602.2(PTCH1):c.256_257del (p.Met86fs)deletion Pathogenic 409169 rs1060502280 9:98248096-98248097 9:95485814-95485815
28 PTCH1 NM_001083602.2(PTCH1):c.1684C>T (p.Gln562Ter)SNV Pathogenic 409151 rs1060502274 9:98231401-98231401 9:95469119-95469119
29 PTCH1 NM_001083602.2(PTCH1):c.2110C>T (p.Arg704Ter)SNV Pathogenic 409162 rs766313615 9:98229650-98229650 9:95467368-95467368
30 PTCH1 NM_001083602.2(PTCH1):c.3262del (p.Ala1088fs)deletion Pathogenic 409127 rs1060502264 9:98212212-98212212 9:95449930-95449930
31 PTCH1 NC_000009.11:g.(?_98229398)_(98232213_?)deldeletion Pathogenic 417458 9:98229398-98232213 9:95467116-95469931
32 PTCH1 NC_000009.11:g.(?_98205264)_(98270831_?)deldeletion Pathogenic 417450 9:98205264-98270831 9:95442982-95508549
33 PTCH1 NM_001083602.2(PTCH1):c.2954G>A (p.Trp985Ter)SNV Pathogenic 409220 rs1060502301 9:98220311-98220311 9:95458029-95458029
34 PTCH1 NM_001083602.2(PTCH1):c.1417del (p.Glu473fs)deletion Pathogenic 237457 rs878853847 9:98238429-98238429 9:95476147-95476147
35 PTCH1 NM_001083602.2(PTCH1):c.2193C>A (p.Tyr731Ter)SNV Pathogenic 237471 rs778260156 9:98229567-98229567 9:95467285-95467285
36 PTCH1 PTCH1, 1-BP DEL, 2583Cdeletion Pathogenic 8218
37 PTCH1 PTCH1, 1-BP INS, 2000Cinsertion Pathogenic 8217
38 PTCH1 PTCH1, 2-BP INS, 2047CTinsertion Pathogenic 8216
39 PTCH1 PTCH1, 1148G-ASNV Pathogenic 8215
40 PTCH1 PTCH1, 37-BP DEL, NT808deletion Pathogenic 8214
41 PTCH1 NM_001083602.2(PTCH1):c.883C>T (p.Gln295Ter)SNV Pathogenic 8213 rs199476090 9:98241416-98241416 9:95479134-95479134
42 PTCH1 PTCH1, 11-BP DEL, NT2442deletion Pathogenic 8212
43 PTCH1 PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INSinsertion Pathogenic 8211
44 PTCH2 NM_003738.5(PTCH2):c.2156G>A (p.Arg719Gln)SNV Pathogenic 6147 rs121434397 1:45293289-45293289 1:44827617-44827617
45 PTCH1 NM_001083602.2(PTCH1):c.189G>A (p.Trp63Ter)SNV Pathogenic 37076 9:98268696-98268696 9:95506414-95506414
46 PTCH1 PTCH1, 1-BP INS, 1247Tinsertion Pathogenic 8226
47 PTCH1 NM_001083602.2(PTCH1):c.72_106del (p.Tyr27fs)deletion Pathogenic 220567 rs864622583 9:98268779-98268813 9:95506497-95506531
48 PTCH1 NM_001083602.2(PTCH1):c.58_59CT[1] (p.Leu21fs)short repeat Pathogenic 219697 rs864622212 9:98268824-98268825 9:95506542-95506543
49 PTCH1 NM_001083602.2(PTCH1):c.1131del (p.Ser378fs)deletion Pathogenic 220079 rs864622374 9:98240355-98240355 9:95478073-95478073
50 PTCH1 NM_001083602.2(PTCH1):c.2341_2344delinsAG (p.Tyr781fs)indel Pathogenic 218279 rs863225467 9:98229416-98229419 9:95467134-95467137

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

73
# 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

Copy number variations for Basal Cell Nevus Syndrome from CNVD:

7
# CNVD ID Chromosome 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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.11 TP53 SUFU SMO SHH ROR2 PTCH2
2
Show member pathways
13.73 TP53 SUFU SMO ROR2 PTCH2 PTCH1
3
Show member pathways
13.46 SUFU SMO ROR2 PTCH2 PTCH1 IHH
4
Show member pathways
13 SUFU SMO PTCH2 PTCH1 IHH GLI3
5 12.87 TP53 SUFU SMO SHH PTCH2 PTCH1
6
Show member pathways
12.47 SUFU SMO SHH PTCH1 KIF7 IHH
7
Show member pathways
12.39 SMO SHH PTCH2 PTCH1 IHH DHH
8
Show member pathways
12.26 TP53 SUFU SMO SHH ROR2 PTCH2
9 12.24 TP53 SMO SHH PTCH1 IHH
10 12.23 SUFU SHH PTCH2 PTCH1 GLI2 GLI1
11 12.22 PTCH1 HHIP GLI3 GLI1
12 11.61 SUFU SMO SHH RAB23 PTCH1 GLI3
13 11.56 PTCH1 IHH GLI3
14 11.5 SMO SHH PTCH1 IHH GLI2 GLI1
15
Show member pathways
11.45 SMO SHH PTCH2 PTCH1 IHH HHIP
16
Show member pathways
11.28 SUFU SMO SHH PTCH2 PTCH1 KIF7
17 11.2 SHH GLI2 GLI1
18 11.14 SUFU SMO SHH PTCH2 PTCH1 KIF7
19 10.55 SHH GLI3
20 10.48 SHH PTCH1

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 axoneme GO:0005930 9.5 GLI3 GLI2 GLI1
2 cilium GO:0005929 9.5 SUFU SMO PTCH1 KIF7 GLI3 GLI2
3 ciliary base GO:0097546 9.46 SUFU GLI3 GLI2 GLI1
4 ciliary membrane GO:0060170 9.43 SMO PTCH1 HHIP
5 ciliary tip GO:0097542 9.1 SUFU SMO KIF7 GLI3 GLI2 GLI1

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

(show top 50) (show all 92)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.3 TP53 SMO SHH MYCN IHH GLI3
2 multicellular organism development GO:0007275 10.3 TP53 SUFU SMO SHH ROR2 RAB23
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.25 TP53 SUFU SMO SHH PTCH1 GLI3
4 negative regulation of apoptotic process GO:0043066 10.21 TP53 SMO SHH IHH HHIP GLI3
5 positive regulation of cell proliferation GO:0008284 10.2 SMO SHH KDM4C IHH GLI2 GLI1
6 positive regulation of transcription, DNA-templated GO:0045893 10.16 TP53 SMO SHH ROR2 PTCH1 MYCN
7 positive regulation of gene expression GO:0010628 10.15 TP53 SMO SHH MYCN KDM4C
8 negative regulation of cell proliferation GO:0008285 10.15 TP53 ROR2 PTCH1 NF1 GLI3
9 in utero embryonic development GO:0001701 10.11 TP53 SMO PTCH1 IHH GLI3 GLI2
10 heart development GO:0007507 10.1 TP53 SHH NF1 GLI3 GLI2
11 regulation of cell proliferation GO:0042127 10.08 TP53 SHH PTCH1 NF1 GLI3
12 negative regulation of gene expression GO:0010629 10.07 TP53 SMO SHH MYCN
13 regulation of gene expression GO:0010468 10.07 SMO SHH NF1 KDM4C IHH GLI3
14 negative regulation of canonical Wnt signaling pathway GO:0090090 10.04 SHH ROR2 GLI3 GLI1
15 skeletal system development GO:0001501 10.04 SUFU ROR2 IHH GLI2
16 central nervous system development GO:0007417 10.03 TP53 SMO SHH GLI3
17 anterior/posterior pattern specification GO:0009952 10.01 SMO SHH GLI3 GLI2
18 lung development GO:0030324 9.99 SHH GLI3 GLI2 GLI1
19 heart looping GO:0001947 9.97 SUFU SMO SHH IHH
20 odontogenesis of dentin-containing tooth GO:0042475 9.97 SMO SHH GLI3 GLI2
21 embryonic digit morphogenesis GO:0042733 9.96 SHH ROR2 IHH GLI3 GLI2
22 response to estradiol GO:0032355 9.95 PTCH1 IHH DHH
23 osteoblast differentiation GO:0001649 9.95 SMO NF1 IHH GLI2 GLI1 DHH
24 wound healing GO:0042060 9.94 TP53 NF1 GLI3
25 multicellular organism growth GO:0035264 9.94 TP53 SMO IHH
26 anatomical structure development GO:0048856 9.94 SHH ROR2 GLI3 GLI2
27 determination of left/right symmetry GO:0007368 9.93 SUFU SMO SHH
28 canonical Wnt signaling pathway GO:0060070 9.93 SHH PORCN GLI1
29 camera-type eye development GO:0043010 9.93 SHH IHH GLI3
30 cell fate specification GO:0001708 9.93 SMO SHH IHH DHH
31 cell fate commitment GO:0045165 9.92 SHH ROR2 GAS1
32 negative regulation of cell differentiation GO:0045596 9.92 SHH IHH GLI3
33 embryonic limb morphogenesis GO:0030326 9.92 SHH PTCH1 GLI3
34 liver regeneration GO:0097421 9.92 PTCH1 IHH GLI3 GLI1
35 neural tube development GO:0021915 9.91 NF1 GLI3 GLI2
36 skin development GO:0043588 9.91 SUFU SHH PTCH2
37 branching involved in ureteric bud morphogenesis GO:0001658 9.91 SHH PTCH1 GLI3
38 positive regulation of protein import into nucleus GO:0042307 9.9 SMO SHH GLI3
39 metanephros development GO:0001656 9.9 SHH NF1 GLI3
40 mammary gland development GO:0030879 9.9 PTCH1 GLI3 GLI2
41 spinal cord motor neuron differentiation GO:0021522 9.9 SHH PTCH1 GLI3 GLI2
42 T cell differentiation in thymus GO:0033077 9.88 TP53 SHH GLI3
43 branching morphogenesis of an epithelial tube GO:0048754 9.88 SHH GLI3 GLI2
44 positive regulation of mesenchymal cell proliferation GO:0002053 9.87 SMO SHH IHH
45 proximal/distal pattern formation GO:0009954 9.87 GLI3 GLI2 GLI1
46 regulation of smoothened signaling pathway GO:0008589 9.86 PTCH1 GLI1 GAS1
47 positive regulation of neuroblast proliferation GO:0002052 9.86 SMO SHH GLI3
48 anatomical structure formation involved in morphogenesis GO:0048646 9.85 SHH GLI3 GLI2
49 embryonic digestive tract morphogenesis GO:0048557 9.85 SHH IHH GLI3
50 somite development GO:0061053 9.85 SMO SHH PTCH1 IHH

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.36 TP53 SUFU SMO SHH ROR2 RAB23
2 zinc ion binding GO:0008270 9.85 TP53 SHH KDM4C HHIP GLI2 DHH
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 TP53 MYCN GLI3 GLI2 GLI1
4 chromatin binding GO:0003682 9.72 TP53 KDM4C GLI3 GLI2 GLI1
5 hedgehog receptor activity GO:0008158 9.26 PTCH2 PTCH1
6 smoothened binding GO:0005119 9.16 PTCH2 PTCH1
7 hedgehog family protein binding GO:0097108 9.13 PTCH2 PTCH1 HHIP
8 patched binding GO:0005113 9.02 SMO SHH PTCH1 IHH DHH

Sources for Basal Cell Nevus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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