BCNS
MCID: BSL036
MIFTS: 70

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 57 12 24 53 25 59 74 37 13 44 40 72
Nevoid Basal Cell Carcinoma Syndrome 57 12 75 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 74
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies 57 53
Nevoid Basal Cell Carcinoma Syndrome; Nbccs 57
Gorlin Syndrome or Gorlin-Goltz Syndrome 74

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:
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:



External Ids:

Disease Ontology 12 DOID:2512
OMIM 57 109400
KEGG 37 H00895
MeSH 44 D001478
NCIt 50 C2892
SNOMED-CT 68 69408002
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C0004779 C0812437
Orphanet 59 ORPHA377
MedGen 42 C0004779
UMLS 72 C0004779

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. 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 ovary, and related phenotypes are cerebral calcification and neoplasm

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.

KEGG : 37
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 : 74 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 : 75 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 373)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 31.5 SUFU SMO SHH PTCH2 PTCH1 GLI3
2 focal dermal hypoplasia 31.0 PTCH1 PORCN
3 basal cell carcinoma, multiple 30.8 SMO PTCH2 PTCH1
4 nodular medulloblastoma 30.1 SUFU PTCH1 GLI2 GLI1
5 ameloblastoma 30.1 SMO PTCH1 GLI1
6 keratocystic odontogenic tumor 29.8 SUFU SMO SHH PTCH1 GLI1
7 medulloblastoma 29.4 SUFU SMO SHH PTCH2 PTCH1 GLI3
8 meier-gorlin syndrome 1 12.8
9 meier-gorlin syndrome 4 12.7
10 meier-gorlin syndrome 2 12.7
11 meier-gorlin syndrome 3 12.7
12 meier-gorlin syndrome 5 12.7
13 meier-gorlin syndrome 6 12.7
14 meier-gorlin syndrome 7 12.7
15 meier-gorlin syndrome 8 12.7
16 lopes gorlin syndrome 12.2
17 9q22.3 microdeletion 11.8
18 basal cell carcinoma 1 11.7
19 hypertelorism, microtia, facial clefting syndrome 11.5
20 bazex syndrome 11.5
21 soft tissue sarcoma 11.5
22 short tarsus with absence of lower eyelashes 11.3
23 oculomaxillofacial dysostosis 11.3
24 microphthalmia, syndromic 2 11.1
25 leopard syndrome 11.1
26 craniofacial microsomia 11.1
27 holoprosencephaly, recurrent infections, and monocytosis 10.5 PTCH1 GLI2
28 microtia 10.4
29 calcifying epithelial odontogenic tumor 10.4 PTCH1 GLI2
30 albinism, oculocutaneous, type v 10.4 SUFU SHH PTCH2
31 albinism, oculocutaneous, type vii 10.4 SUFU SHH PTCH2
32 dwarfism 10.4
33 fibrosarcoma 10.4
34 chromosome 2q35 duplication syndrome 10.3
35 lymphangioma 10.3
36 cystic lymphangioma 10.3
37 rare lymphatic malformation 10.3
38 oral squamous cell carcinoma 10.3
39 isolated growth hormone deficiency, type ia 10.3
40 bardet-biedl syndrome 17 10.3 SHH PTCH1 GLI2
41 microcephaly 10.3
42 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.3 SHH GLI2 GLI1
43 hemifacial microsomia 10.3
44 autosomal recessive disease 10.3
45 fibroma 10.3
46 cleft lip 10.3
47 brachydactyly, type a1 10.2 SHH ROR2 PTCH1 GAS1
48 adult medulloblastoma 10.2 SUFU SHH PTCH1 GLI1
49 midline interhemispheric variant of holoprosencephaly 10.2 SHH PTCH1 GLI2 GAS1
50 septopreoptic holoprosencephaly 10.2 SHH PTCH1 GLI2 GAS1

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:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0002514
2 neoplasm 59 32 hallmark (90%) Very frequent (99-80%) HP:0002664
3 melanocytic nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000995
4 palmar pits 59 32 hallmark (90%) Very frequent (99-80%) HP:0010610
5 plantar pits 59 32 hallmark (90%) Very frequent (99-80%) HP:0010612
6 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
7 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
8 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
9 abnormality of the neck 59 32 frequent (33%) Frequent (79-30%) HP:0000464
10 vertebral fusion 59 32 frequent (33%) Frequent (79-30%) HP:0002948
11 vertebral wedging 59 32 frequent (33%) Frequent (79-30%) HP:0008422
12 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
13 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
14 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
15 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
16 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
17 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
18 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
19 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
20 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
21 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
22 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
23 hypogonadotrophic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000044
24 telecanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000506
25 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
26 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
27 hemivertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0002937
28 arachnodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001166
29 abnormality of the sense of smell 59 32 occasional (7.5%) Occasional (29-5%) HP:0004408
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 motor delay 32 HP:0001270
36 kyphoscoliosis 32 HP:0002751
37 microphthalmia 32 HP:0000568
38 cleft upper lip 32 HP:0000204
39 spina bifida 32 HP:0002414
40 down-sloping shoulders 32 HP:0200021
41 bifid ribs 32 HP:0000892
42 supernumerary ribs 32 HP:0005815
43 abnormality of the sternum 32 HP:0000766
44 basal cell carcinoma 32 HP:0002671
45 cardiac rhabdomyoma 32 HP:0009729
46 skin tags 32 HP:0010609
47 medulloblastoma 32 HP:0002885
48 hamartomatous stomach polyps 32 HP:0004795
49 milia 32 HP:0001056
50 short distal phalanx of the thumb 32 HP:0009650

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

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

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

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

MGI Mouse Phenotypes related to Basal Cell Nevus Syndrome:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.26 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
2 digestive/alimentary MP:0005381 10.25 GLI1 GLI2 GLI3 KIF7 PORCN PTCH1
3 embryo MP:0005380 10.24 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
4 growth/size/body region MP:0005378 10.22 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
5 cardiovascular system MP:0005385 10.19 GAS1 GLI3 KIF7 PTCH1 PTCH2 ROR2
6 nervous system MP:0003631 10.18 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
7 limbs/digits/tail MP:0005371 10.17 GAS1 GLI1 GLI2 GLI3 KIF7 PORCN
8 hearing/vestibular/ear MP:0005377 10 GAS1 GLI2 GLI3 PTCH1 ROR2 SHH
9 normal MP:0002873 9.97 GLI1 GLI2 GLI3 PORCN PTCH1 PTCH2
10 no phenotypic analysis MP:0003012 9.91 GLI1 GLI2 GLI3 KIF7 PTCH1 SHH
11 reproductive system MP:0005389 9.91 GLI1 GLI2 GLI3 KIF7 PORCN PTCH1
12 respiratory system MP:0005388 9.85 GAS1 GLI1 GLI2 GLI3 KIF7 PTCH1
13 skeleton MP:0005390 9.65 GAS1 GLI2 GLI3 KIF7 PORCN PTCH1
14 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
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
2
Verteporfin Approved, Investigational Phase 3 129497-78-5
3 Veratrum Alkaloids Phase 3
4 Antihypertensive Agents Phase 2, Phase 3
5 Adrenergic beta-Antagonists Phase 2, Phase 3
6 Adrenergic Antagonists Phase 2, Phase 3
7 Neurotransmitter Agents Phase 2, Phase 3
8 Anti-Arrhythmia Agents Phase 2, Phase 3
9 Adrenergic Agents Phase 2, Phase 3
10 Vasodilator Agents Phase 2, Phase 3
11 Dermatologic Agents Phase 3
12 Photosensitizing Agents Phase 3
13
Tazarotene Approved, Investigational Phase 2 118292-40-3 5381
14
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
15
Aminolevulinic acid Approved Phase 2 106-60-5 137
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
leucovorin Approved Phase 2 58-05-9 143 6006
21
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
22
Etoposide Approved Phase 2 33419-42-0 36462
23
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
24
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
25
nivolumab Approved Phase 2 946414-94-4
26
Ipilimumab Approved Phase 2 477202-00-9
27
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
28
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
29
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
30 Nicotinic Acids Phase 2
31 Vitamin B3 Phase 2
32 Pharmaceutical Solutions Phase 2
33 interferons Phase 1, Phase 2
34 Antifungal Agents Phase 2
35 Immunologic Factors Phase 2
36 Anti-Infective Agents Phase 2
37 Immunosuppressive Agents Phase 2
38 Vitamin B9 Phase 2
39 Folate Phase 2
40 Vitamin B Complex Phase 2
41 Keratolytic Agents Phase 2
42 Hormones Phase 2
43 14-alpha Demethylase Inhibitors Phase 2
44 Cytochrome P-450 CYP3A Inhibitors Phase 2
45 Cytochrome P-450 Enzyme Inhibitors Phase 2
46 Steroid Synthesis Inhibitors Phase 2
47 Hormone Antagonists Phase 2
48
Hydroxyitraconazole Phase 2
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
50 Alkylating Agents Phase 2

Interventional clinical trials:

(show all 33)
# 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 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 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
13 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
14 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
15 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
16 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
17 A Phase 2, Single-center, Single-arm, Open Label Trial of Vismodegib in Patients With Keratocystic Odontogenic Tumors Active, not recruiting NCT02366312 Phase 2 vismodegib
18 Trial of Nivolumab With Vismodegib in Patients With Basal Cell Nevus Syndrome (BCNS) Not yet recruiting NCT03767439 Phase 2 Vismodegib;Nivolumab;Ipilimumab
19 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
20 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
21 In Vivo and In Vitro Pharmacology of Sirolimus in Subjects With Basal Cell Nevus Syndrome Completed NCT00433485 Phase 1 sirolimus
22 Development of a Nanosecond Pulsed Electric Field System to Treat Skin Cancer Completed NCT01463709 Phase 1
23 Photodynamic Therapy and Vismodegib for Multiple Basal Cell Carcinomas Completed NCT02639117 Phase 1 Vismodegib
24 Vitamin D as a Nutritional Neoadjuvant During Photodynamic Therapy of Basal Cell Carcinoma in Basal Cell Nevus Syndrome Recruiting NCT03483441 Phase 1 PDT
25 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
26 Extension Protocol of BMS-833923 in Subjects With Basal Cell Nevus Syndrome Completed NCT02100371 BMS-833923
27 Double-blind, Randomized, Placebo-controlled Two-period Crossover Study to Assess the Effect of Levocarnitine on Vismodegib-associated Muscle Spasms Completed NCT01893892
28 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
29 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
30 A Phase I Clinical Trial of Dermacorder for Detecting Malignant Skin Lesions Completed NCT01014819
31 Vitamin D as a Nutritional Neoadjuvant During Photodynamic Therapy of Basal Cell Carcinoma in Basal Cell Nevus Syndrome Recruiting NCT03467789
32 Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Cancer Recruiting NCT00001163
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 29 PTCH1 PTCH2 SUFU

Anatomical Context for Basal Cell Nevus Syndrome

MalaCards organs/tissues related to Basal Cell Nevus Syndrome:

41
Skin, Heart, Ovary, Bone, Brain, Eye, Testes

Publications for Basal Cell Nevus Syndrome

Articles related to Basal Cell Nevus Syndrome:

(show top 50) (show all 1113)
# Title Authors PMID Year
1
Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. 38 4 8 71
23479190 2013
2
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. 38 4 8 71
8681379 1996
3
Human homolog of patched, a candidate gene for the basal cell nevus syndrome. 9 38 8 71
8658145 1996
4
Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. 9 38 4 8
9931336 1999
5
Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. 9 38 4 8
8042673 1994
6
Identification of a SUFU germline mutation in a family with Gorlin syndrome. 8 71
19533801 2009
7
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. 8 71
18285427 2008
8
Gorlin syndrome with ulcerative colitis in a Japanese girl. 8 71
12900905 2003
9
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. 38 4 8
9096761 1997
10
Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. 9 38 8
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. 9 38 8
14699618 2004
12
Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome. 9 38 8
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. 9 38 8
7835901 1994
14
Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. 9 38 8
8001963 1994
15
Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity. 9 38 8
8352281 1993
16
Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. 4 8
8326488 1993
17
The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. 4 8
1931625 1991
18
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. 38 8
22918513 2013
19
Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome. 38 71
22572734 2012
20
Patched1 haploinsufficiency increases adult bone mass and modulates Gli3 repressor activity. 38 71
18477452 2008
21
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 9 38 4
16301862 2005
22
DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. 9 38 4
16088933 2005
23
Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. 9 38 4
15545745 2004
24
DNA damage and repair in Gorlin syndrome and normal fibroblasts after aminolevulinic acid photodynamic therapy: a comet assay study. 9 38 4
14626660 2003
25
Mutations in SUFU predispose to medulloblastoma. 38 71
12068298 2002
26
Bilateral hyperplasia of the mandibular coronoid processes in patients with nevoid basal cell carcinoma syndrome: an undescribed sign. 38 8
12116218 2002
27
Nevoid Basal Cell Carcinoma Syndrome 38 71
20301330 2002
28
Bilateral hyperplasia of the mandibular coronoid processes associated with the nevoid basal cell carcinoma syndrome in an Italian boy. 38 8
11338037 2001
29
Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. 38 8
10066029 1999
30
Nevoid basal cell carcinoma syndrome in a black child. 38 8
9486718 1998
31
Nevoid basal cell carcinoma syndrome with medulloblastoma in an African-American boy: a rare case illustrating gene-environment interaction. 38 8
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. 38 8
8981943 1997
33
Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC). 38 8
8042672 1994
34
Nevoid basal-cell carcinoma syndrome. 38 8
3547011 1987
35
Familial subconjunctival epithelial cysts associated with the nevoid basal cell carcinoma syndrome. 38 8
3800416 1987
36
The multiple basal cell nevus syndrome: a cytogenetic study of six cases. 38 8
3943073 1986
37
The multiple nevoid basal cell carcinoma syndrome. Report of its occurrence in four generations of a family. 38 8
7417945 1980
38
The basal cell nevus syndrome: disasters occurring among a series of 36 patients. 38 8
509397 1979
39
Familial basal cell nevus syndrome. 38 8
730159 1978
40
Basal-cell-nevus syndrome and gastrointestinal polyposis. 38 8
661854 1978
41
Craniofacial morphology in the nevoid basal cell carcinoma syndrome. 38 8
826494 1976
42
Older paternal age and fresh gene mutation: data on additional disorders. 38 8
1110452 1975
43
Pursuit of the pits in the nevoid basal cell carcinoma syndrome. 38 8
5501899 1970
44
Multiple palmar basal cell epitheliomas in basal cell nevus syndrome. 38 8
5424485 1970
45
Basal cell nevus syndrome with inflammatory disease of the bowel. 38 8
5761802 1969
46
Linkage analysis of the nevoid basal cell carcinoma syndrome. 38 8
5715624 1968
47
The basal cell nevus syndrome. 38 8
5648943 1968
48
The basal cell nevus syndrome and inflammatory disease of the bowel. 38 8
5641308 1968
49
The nevoid basal cell carcinoma syndrome. 38 8
4960000 1967
50
Basal cell nevus syndrome. Combined clinical staff conference at the National Institutes of Health. 38 8
4285384 1966

Variations for Basal Cell Nevus Syndrome

ClinVar genetic disease variations for Basal Cell Nevus Syndrome:

6 (show top 50) (show all 1481)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PTCH1 NM_001083602.2(PTCH1): c.387-1G> C single nucleotide variant Pathogenic rs1057520590 9:98244486-98244486 9:95482204-95482204
2 PTCH1 NM_001083602.2(PTCH1): c.4-1649del deletion Pathogenic rs751977093 9:98270530-98270530 9:95508248-95508248
3 PTCH1 NC_000009.11: g.(?_98205264)_(98270831_?)del deletion Pathogenic 9:98205264-98270831 9:95442982-95508549
4 PTCH1 NC_000009.11: g.(?_98229398)_(98232213_?)del deletion Pathogenic 9:98229398-98232213 9:95467116-95469931
5 PTCH1 NM_001083602.2(PTCH1): c.3262del (p.Ala1088fs) deletion Pathogenic rs1060502264 9:98212212-98212212 9:95449930-95449930
6 PTCH1 NM_001083602.2(PTCH1): c.2954G> A (p.Trp985Ter) single nucleotide variant Pathogenic rs1060502301 9:98220311-98220311 9:95458029-95458029
7 PTCH1 NM_001083602.2(PTCH1): c.957del (p.Asn320fs) deletion Pathogenic rs1060502297 9:98241342-98241342 9:95479060-95479060
8 PTCH1 NM_001083602.2(PTCH1): c.2110C> T (p.Arg704Ter) single nucleotide variant Pathogenic rs766313615 9:98229650-98229650 9:95467368-95467368
9 PTCH1 NM_001083602.2(PTCH1): c.1684C> T (p.Gln562Ter) single nucleotide variant Pathogenic rs1060502274 9:98231401-98231401 9:95469119-95469119
10 PTCH1 NM_001083602.2(PTCH1): c.1008_1009AT[1] (p.Tyr337fs) short repeat Pathogenic rs1060502286 9:98241288-98241289 9:95479006-95479007
11 PTCH1 NM_001083602.2(PTCH1): c.870-2A> T single nucleotide variant Pathogenic rs1060502271 9:98241431-98241431 9:95479149-95479149
12 PTCH1 NM_001083602.2(PTCH1): c.510G> A (p.Trp170Ter) single nucleotide variant Pathogenic rs1060502287 9:98244269-98244269 9:95481987-95481987
13 PTCH1 NM_001083602.2(PTCH1): c.256_257del (p.Met86fs) deletion Pathogenic rs1060502280 9:98248096-98248097 9:95485814-95485815
14 PTCH1 NM_001083602.2(PTCH1): c.3166_3167del (p.Met1056fs) deletion Pathogenic rs1060502273 9:98215844-98215845 9:95453562-95453563
15 PTCH1 NM_001083602.2(PTCH1): c.2805T> A (p.Tyr935Ter) single nucleotide variant Pathogenic rs1060502298 9:98220460-98220460 9:95458178-95458178
16 PTCH1 NM_001083602.2(PTCH1): c.2144dup (p.Pro716fs) duplication Pathogenic rs1060502294 9:98229616-98229616 9:95467334-95467334
17 PTCH1 NM_001083602.2(PTCH1): c.1997_1998TC[1] (p.Ser667fs) short repeat Pathogenic rs1060502292 9:98231085-98231086 9:95468803-95468804
18 PTCH1 NM_001083602.2(PTCH1): c.1110del (p.Asp370fs) deletion Pathogenic rs1060502295 9:98240376-98240376 9:95478094-95478094
19 SUFU NM_016169.3(SUFU): c.341del (p.Ser114fs) deletion Pathogenic rs1060501108 10:104309750-104309750 10:102549993-102549993
20 PTCH1 NM_001083602.2(PTCH1): c.2776G> T (p.Glu926Ter) single nucleotide variant Pathogenic rs1060502278 9:98220489-98220489 9:95458207-95458207
21 SUFU NM_016169.3(SUFU): c.171dup (p.Val58fs) duplication Pathogenic rs1554840869 10:104264080-104264080 10:102504323-102504323
22 SUFU NM_016169.3(SUFU): c.436C> T (p.Arg146Ter) single nucleotide variant Pathogenic rs1060501109 10:104309845-104309845 10:102550088-102550088
23 PTCH1 NM_001083602.2(PTCH1): c.543C> A (p.Tyr181Ter) single nucleotide variant Pathogenic rs1060502281 9:98244236-98244236 9:95481954-95481954
24 PTCH1 NM_001083602.2(PTCH1): c.1405-2A> G single nucleotide variant Pathogenic rs1064793921 9:98238443-98238443 9:95476161-95476161
25 PTCH1 NM_001083602.2(PTCH1): c.392G> A (p.Trp131Ter) single nucleotide variant Pathogenic rs1064793922 9:98244480-98244480 9:95482198-95482198
26 PTCH1 NM_001083602.2(PTCH1): c.688del (p.Cys230fs) deletion Pathogenic rs1131690987 9:98242731-98242731 9:95480449-95480449
27 PTCH1 NM_001083602.2(PTCH1): c.609_612del (p.Lys203_Lys204insTer) deletion Pathogenic rs1131690969 9:98242807-98242810 9:95480525-95480528
28 PTCH1 NM_001083602.2(PTCH1): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic rs1131690986 9:98248148-98248148 9:95485866-95485866
29 PTCH1 deletion Pathogenic
30 PTCH1 NM_001083602.2(PTCH1): c.2421C> G (p.Tyr807Ter) single nucleotide variant Pathogenic rs1554692291 9:98224222-98224222 9:95461940-95461940
31 PTCH1 NM_001083602.2(PTCH1): c.1385dup (p.Asn462fs) duplication Pathogenic rs1554698258 9:98239060-98239060 9:95476778-95476778
32 PTCH1 NM_001083602.2(PTCH1): c.723dup (p.Ala242fs) duplication Pathogenic rs1554699837 9:98242696-98242696 9:95480414-95480414
33 SUFU NM_016169.3(SUFU): c.585_586dup (p.Thr196fs) duplication Pathogenic rs1554852279 10:104352469-104352470 10:102592712-102592713
34 PTCH1 NM_001083602.2(PTCH1): c.2441del (p.Gly814fs) deletion Pathogenic rs1554692266 9:98224202-98224202 9:95461920-95461920
35 PTCH1 NM_001083602.2(PTCH1): c.1557_1559delinsGG (p.Phe519fs) indel Pathogenic rs1554695612 9:98232185-98232187 9:95469903-95469905
36 PTCH1 NM_001083602.2(PTCH1): c.1109dup (p.Asp370fs) duplication Pathogenic rs1554698800 9:98240377-98240377 9:95478095-95478095
37 PTCH1 NM_001083602.2(PTCH1): c.3342_3345delinsTCC (p.Tyr1115fs) indel Pathogenic rs1554689667 9:98212129-98212132 9:95449847-95449850
38 PTCH1 NM_001083602.2(PTCH1): c.3230_3231del (p.Gly1076_Ser1077insTer) deletion Pathogenic rs1554690411 9:98215780-98215781 9:95453498-95453499
39 PTCH1 NM_001083602.2(PTCH1): c.2927dup (p.Cys977fs) duplication Pathogenic rs1554691354 9:98220338-98220338 9:95458056-95458056
40 PTCH1 NM_001083602.2(PTCH1): c.1511_1523del (p.Leu504fs) deletion Pathogenic rs1554697839 9:98238323-98238335 9:95476041-95476053
41 PTCH1 NM_001083602.2(PTCH1): c.1287del (p.Phe429fs) deletion Pathogenic rs1554698531 9:98239847-98239847 9:95477565-95477565
42 PTCH1 NM_001083602.2(PTCH1): c.404del (p.His135fs) deletion Pathogenic rs1554700742 9:98244468-98244468 9:95482186-95482186
43 PTCH1 NM_001083602.2(PTCH1): c.2733_2734insGTAGA (p.Leu912fs) insertion Pathogenic rs1554691423 9:98220531-98220532 9:95458249-95458250
44 PTCH1 NM_001083602.2(PTCH1): c.1864C> T (p.Gln622Ter) single nucleotide variant Pathogenic rs1554695039 9:98231221-98231221 9:95468939-95468939
45 PTCH1 NM_001083602.2(PTCH1): c.92del (p.Asn31fs) deletion Pathogenic rs1554708751 9:98268793-98268793 9:95506511-95506511
46 PTCH1 NM_001083602.2(PTCH1): c.1011T> G (p.Tyr337Ter) single nucleotide variant Pathogenic rs1432645175 9:98241288-98241288 9:95479006-95479006
47 PTCH1 NM_001083602.2(PTCH1): c.61_62del (p.Leu21fs) deletion Pathogenic rs1554708760 9:98268823-98268824 9:95506541-95506542
48 SUFU NC_000010.10: g.(?_104353387)_(104357056_?)del deletion Pathogenic 10:104353387-104357056 10:102593630-102597299
49 PTCH1 NM_001083602.2(PTCH1): c.937dup (p.Tyr313fs) duplication Pathogenic rs1554699216 9:98241362-98241362 9:95479080-95479080
50 PTCH1 NM_001083602.2(PTCH1): c.569G> A (p.Trp190Ter) single nucleotide variant Pathogenic rs1554700010 9:98242850-98242850 9:95480568-95480568

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

74
# 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 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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 SUFU SMO SHH ROR2 PTCH2 PTCH1
2
Show member pathways
12.82 SUFU SMO PTCH2 PTCH1 GLI3 GLI2
3 12.63 SUFU SMO SHH PTCH2 PTCH1 KIF7
4
Show member pathways
12.35 SUFU SMO SHH PTCH1 KIF7 GLI3
5
Show member pathways
12.2 SMO SHH PTCH2 PTCH1
6 12.11 SUFU SHH PTCH2 PTCH1 GLI2 GLI1
7
Show member pathways
11.77 SUFU SMO SHH PTCH2 PTCH1 KIF7
8 11.31 SMO SHH PTCH1 GLI2 GLI1
9 11.09 SHH GLI2 GLI1
10
Show member pathways
10.91 SMO SHH PTCH2 PTCH1 GLI2 GAS1
11 10.43 SHH GLI3
12 10.36 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 cilium GO:0005929 9.5 SUFU SMO PTCH1 KIF7 GLI3 GLI2
2 ciliary base GO:0097546 9.46 SUFU GLI3 GLI2 GLI1
3 axoneme GO:0005930 9.43 GLI3 GLI2 GLI1
4 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 76)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of canonical Wnt signaling pathway GO:0090090 9.99 SHH ROR2 GLI3 GLI1
2 anterior/posterior pattern specification GO:0009952 9.96 SMO SHH GLI3 GLI2
3 lung development GO:0030324 9.93 SHH GLI3 GLI2 GLI1
4 central nervous system development GO:0007417 9.92 SMO SHH GLI3
5 kidney development GO:0001822 9.92 SHH GLI3 GLI2
6 osteoblast differentiation GO:0001649 9.91 SMO GLI2 GLI1
7 odontogenesis of dentin-containing tooth GO:0042475 9.9 SMO SHH GLI3 GLI2
8 determination of left/right symmetry GO:0007368 9.89 SUFU SMO SHH
9 canonical Wnt signaling pathway GO:0060070 9.89 SHH PORCN GLI1
10 embryonic digit morphogenesis GO:0042733 9.89 SHH ROR2 GLI3 GLI2
11 cell fate commitment GO:0045165 9.88 SHH ROR2 GAS1
12 heart looping GO:0001947 9.88 SUFU SMO SHH
13 embryonic limb morphogenesis GO:0030326 9.88 SHH PTCH1 GLI3
14 embryonic organ development GO:0048568 9.88 SMO SHH PTCH1 GLI3
15 skin development GO:0043588 9.87 SUFU SHH PTCH2
16 branching involved in ureteric bud morphogenesis GO:0001658 9.87 SHH PTCH1 GLI3
17 positive regulation of smoothened signaling pathway GO:0045880 9.87 SMO SHH KIF7 GLI1
18 liver regeneration GO:0097421 9.86 PTCH1 GLI3 GLI1
19 mammary gland development GO:0030879 9.86 PTCH1 GLI3 GLI2
20 pattern specification process GO:0007389 9.85 SMO SHH PTCH1 GLI3 GLI2
21 positive regulation of protein import into nucleus GO:0042307 9.83 SMO SHH GLI3
22 branching morphogenesis of an epithelial tube GO:0048754 9.83 SHH GLI3 GLI2
23 spinal cord motor neuron differentiation GO:0021522 9.83 SHH PTCH1 GLI3 GLI2
24 anatomical structure development GO:0048856 9.82 SHH GLI3 GLI2
25 proximal/distal pattern formation GO:0009954 9.81 GLI3 GLI2 GLI1
26 renal system development GO:0072001 9.8 SMO SHH PTCH1
27 anatomical structure formation involved in morphogenesis GO:0048646 9.8 SHH GLI3 GLI2
28 positive regulation of neuroblast proliferation GO:0002052 9.79 SMO SHH GLI3
29 somite development GO:0061053 9.78 SMO SHH PTCH1
30 developmental growth GO:0048589 9.77 SMO SHH GLI3 GLI2 GAS1
31 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.76 PTCH1 GLI3 GLI2
32 limb morphogenesis GO:0035108 9.75 PTCH1 GLI3
33 hindbrain development GO:0030902 9.75 SHH GLI2
34 osteoblast development GO:0002076 9.75 SHH GLI2
35 male genitalia development GO:0030539 9.75 SHH ROR2
36 cell fate specification GO:0001708 9.74 SMO SHH
37 embryonic digestive tract morphogenesis GO:0048557 9.74 SHH GLI3
38 embryonic digestive tract development GO:0048566 9.74 GLI3 GLI2
39 cell fate determination GO:0001709 9.74 PTCH2 PTCH1
40 embryonic morphogenesis GO:0048598 9.74 SHH GLI3
41 cellular response to cholesterol GO:0071397 9.74 SMO PTCH1
42 digestive tract morphogenesis GO:0048546 9.73 SHH GLI1
43 thalamus development GO:0021794 9.73 SMO SHH
44 mammary gland epithelial cell differentiation GO:0060644 9.73 SMO PTCH1
45 commissural neuron axon guidance GO:0071679 9.73 SMO PTCH1
46 hindgut morphogenesis GO:0007442 9.73 SHH GLI3 GLI2
47 prostate gland development GO:0030850 9.73 SHH PTCH1 GLI3 GLI1
48 negative thymic T cell selection GO:0045060 9.72 SHH GLI3
49 positive regulation of T cell differentiation in thymus GO:0033089 9.72 SHH GLI2
50 positive regulation of alpha-beta T cell differentiation GO:0046638 9.72 SHH GLI3

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

# Name GO ID Score Top Affiliating Genes
1 smoothened binding GO:0005119 9.26 PTCH2 PTCH1
2 hedgehog receptor activity GO:0008158 9.16 PTCH2 PTCH1
3 hedgehog family protein binding GO:0097108 8.96 PTCH2 PTCH1
4 patched binding GO:0005113 8.8 SMO SHH PTCH1

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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