BCNS
MCID: BSL036
MIFTS: 74

Basal Cell Nevus Syndrome (BCNS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Basal Cell Nevus Syndrome

MalaCards integrated aliases for Basal Cell Nevus Syndrome:

Name: Basal Cell Nevus Syndrome 57 11 24 19 42 58 73 12 43 38 71
Nevoid Basal Cell Carcinoma Syndrome 57 11 24 19 42 58 75 53 14
Gorlin Syndrome 57 11 24 19 42 58 28 5 33
Nbccs 57 11 24 42 58
Gorlin-Goltz Syndrome 57 19 42 58
Bcns 57 24 42 73
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies 57 19
Gorlin Syndrome or Gorlin-Goltz Syndrome 73
Naevoid Basal Cell Carcinoma Syndrome 33
Nevoid Basal-Cell Carcinoma Syndrome 75
Cramer Niederdellmann Syndrome 19
Cerebral Gigantism Jaw Cysts 19

Characteristics:


Inheritance:

Basal Cell Nevus Syndrome: Autosomal dominant 57
Gorlin Syndrome: Autosomal dominant 58

Prevelance:

Gorlin Syndrome: 1-9/100000 (Europe, United Kingdom, United Kingdom, Worldwide) 1-9/1000000 (Italy, Australia) <1/1000000 (Korea, Republic of) 58

Age Of Onset:

Gorlin Syndrome: Adolescent,Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
paternal age effect
abnormal sensitivity to therapeutic radiation


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

MedlinePlus Genetics: 42 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 1 and desmoplastic nodular medulloblastoma. An important gene associated with Basal Cell Nevus Syndrome is PTCH1 (Patched 1), and among its related pathways/superpathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and ERK Signaling. The drugs Verteporfin and Veratrum Alkaloids have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and brain, and related phenotypes are cerebral calcification and melanocytic nevus

GARD: 19 Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.

OMIM®: 57 The basal cell nevus syndrome (BCNS) is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keatocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesentreic cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002). (109400) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities that has material basis in heterozygous mutation in either PTCH1, PTCH2, or SUFU on chromosome 9q22, 1p32, or 10q24-q25, respectively.

Orphanet: 58 A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.

Wikipedia: 75 Nevoid basal-cell carcinoma syndrome (NBCCS) is an inherited medical condition involving defects within... more...

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 548)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 1 32.7 SMO PTCH2 PTCH1 LOC100507346
2 desmoplastic nodular medulloblastoma 32.0 TP53 SUFU SHH PTCH2 PTCH1 MYCN
3 basal cell carcinoma 31.6 TP53 SUFU SMO SHH PTCH2 PTCH1
4 focal dermal hypoplasia 31.4 SUFU SHH PTCH2 PTCH1 GLI3 GLI2
5 fibroma 31.2 PTCH1 NF1 CTNNB1
6 bap1 tumor predisposition syndrome 31.2 TP53 SUFU PTCH1 NF1 LOC100507346
7 basal cell carcinoma, multiple 31.1 PTCH1 LOC100507346
8 inherited cancer-predisposing syndrome 31.1 TP53 SUFU PTCH1 NF1 LOC100507346
9 medulloblastoma 30.9 TP53 SUFU SMO SHH PTCH2 PTCH1
10 skin carcinoma 30.8 TP53 SUFU SHH PTCH2 PTCH1 KDM4C
11 skin disease 30.8 TP53 SHH PTCH1 NF1 KDM4C GLI1
12 meningioma, familial 30.6 TP53 SUFU SMO SHH PTCH2 PTCH1
13 basal cell carcinoma, infundibulocystic 30.6 SUFU PTCH1
14 brachydactyly 30.6 SHH ROR2 PTCH1 IHH GLI1
15 ganglioglioma 30.6 TP53 NF1 MYCN
16 tooth agenesis 30.6 SHH PTCH1 GLI3 CTNNB1
17 ameloblastoma 30.5 TP53 SMO PTCH1 GLI1 CTNNB1
18 orofacial cleft 30.5 SHH PTCH1 KDM4C IHH GLI3 GLI2
19 skin benign neoplasm 30.5 TP53 PTCH1 NF1 GLI2 GLI1
20 craniosynostosis 30.5 SMO SHH IHH GLI3 GLI2 GLI1
21 polydactyly 30.5 SUFU SHH PTCH1 KIF7 GLI3 GLI2
22 cleft palate, isolated 30.4 SHH PTCH1 IHH GLI3 GLI2 GLI1
23 neural tube defects 30.4 TP53 SUFU SHH PTCH1 NF1 GLI3
24 wilms tumor 1 30.4 TP53 NF1 MYCN KDM4C CTNNB1
25 overgrowth syndrome 30.4 PTCH1 LOC100507346
26 vulva basal cell carcinoma 30.4 SHH PTCH1
27 rhabdoid cancer 30.3 TP53 SHH KDM4C
28 mesenchymal cell neoplasm 30.3 TP53 NF1 CTNNB1
29 rhabdomyosarcoma 30.3 TP53 SUFU SHH PTCH2 PTCH1 NF1
30 ewing sarcoma 30.3 TP53 NF1 MYCN KDM4C
31 coloboma of macula 30.3 SHH PTCH1 KIF7 GLI3
32 anus, imperforate 30.3 SHH GLI3 GLI2 GLI1 CTNNB1
33 childhood medulloblastoma 30.3 TP53 SUFU SHH PTCH1 MYCN KDM4C
34 embryonal rhabdomyosarcoma 30.3 TP53 PTCH1 NF1 MYCN GLI1
35 chromosome 2q35 duplication syndrome 30.2 SUFU SHH PTCH1 IHH GLI3 GLI2
36 asphyxiating thoracic dystrophy 30.2 SHH PTCH1 KIF7 IHH GLI3 GLI2
37 atypical teratoid rhabdoid tumor 30.1 TP53 SUFU SHH PTCH1 NF1 MYCN
38 brain cancer 30.1 TP53 SHH PTCH1 NF1 MYCN KDM4C
39 meier-gorlin syndrome 1 11.9
40 meier-gorlin syndrome 7 11.6
41 meier-gorlin syndrome 8 11.6
42 meier-gorlin syndrome 4 11.6
43 meier-gorlin syndrome 2 11.6
44 meier-gorlin syndrome 3 11.6
45 meier-gorlin syndrome 5 11.6
46 meier-gorlin syndrome 6 11.6
47 hypertelorism, microtia, facial clefting syndrome 11.4
48 9q22.3 microdeletion 11.3
49 short tarsus with absence of lower eyelashes 11.3
50 facial clefting, oblique, 1 11.2

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 30 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral calcification 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002514
2 melanocytic nevus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000995
3 neoplasm 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002664
4 palmar pits 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010610
5 plantar pits 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010612
6 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
7 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000431
8 brachydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001156
9 abnormality of the neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000464
10 vertebral fusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0002948
11 vertebral wedging 58 30 Frequent (33%) Frequent (79-30%)
HP:0008422
12 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
13 frontal bossing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002007
14 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
15 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
16 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
17 mandibular prognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000303
18 carious teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000670
19 brachycephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000248
20 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
21 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
22 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
23 arachnodactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001166
24 glaucoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000501
25 iris coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000612
26 hemivertebrae 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002937
27 telecanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000506
28 abnormality of the sense of smell 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004408
29 hypogonadotropic hypogonadism 30 Occasional (7.5%) HP:0000044
30 macrocephaly 30 HP:0000256
31 coarse facial features 30 HP:0000280
32 cleft palate 30 HP:0000175
33 short 4th metacarpal 30 HP:0010044
34 hypogonadotrophic hypogonadism 58 Occasional (29-5%)
35 sprengel anomaly 30 HP:0000912
36 motor delay 30 HP:0001270
37 kyphoscoliosis 30 HP:0002751
38 cleft upper lip 30 HP:0000204
39 microphthalmia 30 HP:0000568
40 spina bifida 30 HP:0002414
41 down-sloping shoulders 30 HP:0200021
42 bifid ribs 30 HP:0000892
43 supernumerary ribs 30 HP:0005815
44 basal cell carcinoma 30 HP:0002671
45 milia 30 HP:0001056
46 short distal phalanx of the thumb 30 HP:0009650
47 short ribs 30 HP:0000773
48 skin tags 30 HP:0010609
49 cardiac fibroma 30 HP:0010617
50 ovarian fibroma 30 HP:0010618

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
kyphoscoliosis
abnormal cervical vertebrae

Head And Neck Mouth:
cleft palate
cleft lip

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

Cardiovascular Heart:
cardiac fibroma

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

Head And Neck Eyes:
hypertelorism
strabismus
glaucoma
iris coloboma
lateral displacement of the inner canthi
more
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

Neurologic Central Nervous System:
medulloblastoma
mental retardation (less common)
calcification of the falx cerebri

Abdomen Gastrointestinal:
hamartomatous stomach polyps
lymphomesenteric cysts, often calcified

Head And Neck Nose:
broad nasal root

Clinical features from OMIM®:

109400 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.68 PTCH2
2 Decreased viability GR00221-A-1 9.68 GLI2 IHH NF1 PTCH2
3 Decreased viability GR00221-A-2 9.68 GLI2 IHH NF1 PTCH2 ROR2
4 Decreased viability GR00221-A-3 9.68 PTCH2 ROR2
5 Decreased viability GR00221-A-4 9.68 NF1 PTCH2 ROR2
6 Decreased viability GR00249-S 9.68 NF1 PTCH2
7 Decreased viability GR00301-A 9.68 PTCH2
8 Decreased viability GR00342-S-1 9.68 ROR2
9 Decreased viability GR00342-S-3 9.68 ROR2
10 Decreased viability GR00386-A-1 9.68 GLI2 NF1 PTCH2

MGI Mouse Phenotypes related to Basal Cell Nevus Syndrome:

45 (show all 24)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.55 CTNNB1 DHH GAS1 GLI1 GLI2 GLI3
2 growth/size/body region MP:0005378 10.49 CTNNB1 GAS1 GLI1 GLI2 GLI3 HHIP
3 homeostasis/metabolism MP:0005376 10.46 CTNNB1 DHH GAS1 GLI2 GLI3 KDM4C
4 digestive/alimentary MP:0005381 10.45 CTNNB1 DHH GAS1 GLI1 GLI2 GLI3
5 limbs/digits/tail MP:0005371 10.44 CTNNB1 GAS1 GLI1 GLI2 GLI3 IHH
6 embryo MP:0005380 10.41 CTNNB1 GAS1 GLI1 GLI2 GLI3 HHIP
7 normal MP:0002873 10.38 CTNNB1 GLI1 GLI2 GLI3 MYCN NF1
8 no phenotypic analysis MP:0003012 10.38 CTNNB1 GLI1 GLI2 GLI3 IHH KDM4C
9 craniofacial MP:0005382 10.38 CTNNB1 GAS1 GLI1 GLI2 GLI3 HHIP
10 cellular MP:0005384 10.36 CTNNB1 GAS1 GLI1 GLI2 GLI3 HHIP
11 endocrine/exocrine gland MP:0005379 10.34 CTNNB1 DHH GLI1 GLI2 GLI3 HHIP
12 muscle MP:0005369 10.32 CTNNB1 GLI2 IHH KIF7 MYCN NF1
13 respiratory system MP:0005388 10.31 CTNNB1 GAS1 GLI1 GLI2 GLI3 HHIP
14 cardiovascular system MP:0005385 10.28 CTNNB1 GAS1 GLI3 IHH KIF7 MYCN
15 neoplasm MP:0002006 10.26 CTNNB1 GLI1 KDM4C NF1 PTCH1 PTCH2
16 hearing/vestibular/ear MP:0005377 10.25 CTNNB1 GAS1 GLI2 GLI3 NF1 PTCH1
17 renal/urinary system MP:0005367 10.24 CTNNB1 GLI1 GLI3 MYCN NF1 PTCH1
18 skeleton MP:0005390 10.2 CTNNB1 GAS1 GLI1 GLI2 GLI3 IHH
19 reproductive system MP:0005389 10.18 CTNNB1 DHH GLI1 GLI2 GLI3 KIF7
20 pigmentation MP:0001186 10.16 CTNNB1 GAS1 GLI3 NF1 PTCH1 SUFU
21 vision/eye MP:0005391 10.13 CTNNB1 GAS1 GLI2 GLI3 HHIP IHH
22 mortality/aging MP:0010768 9.89 CTNNB1 GAS1 GLI1 GLI2 GLI3 HHIP
23 taste/olfaction MP:0005394 9.46 CTNNB1 GLI3 PTCH1 SHH
24 integument MP:0010771 9.36 CTNNB1 GLI2 GLI3 KDM4C NF1 PTCH1

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 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verteporfin Approved, Investigational Phase 3 129497-78-5 5362420
2 Veratrum Alkaloids Phase 3
3 Antihypertensive Agents Phase 3
4 Dermatologic Agents Phase 3
5 Photosensitizing Agents Phase 3
6
Tazarotene Approved, Investigational Phase 2 118292-40-3 5381
7
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
8
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
9
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
10
Aminolevulinic acid Approved Phase 2 106-60-5 137
11
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
12
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
13
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
14
Carboplatin Approved Phase 2 41575-94-4 10339178 38904
15
Etoposide Approved Phase 2 33419-42-0 36462
16
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
17
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
18
Picropodophyllin Approved, Investigational Phase 2 518-28-5, 477-47-4 10607 72435
19
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
20
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
21
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
22
Asparagine Approved, Investigational, Nutraceutical Phase 1, Phase 2 70-47-3 6267
23 Anti-Infective Agents Phase 2
24 Antifungal Agents Phase 2
25 Cyclooxygenase Inhibitors Phase 2
26 Cyclooxygenase 2 Inhibitors Phase 2
27 Anti-Inflammatory Agents, Non-Steroidal Phase 2
28 Anti-Inflammatory Agents Phase 2
29 Analgesics, Non-Narcotic Phase 2
30 Analgesics Phase 2
31 Hormones Phase 2
32 Pharmaceutical Solutions Phase 2
33 interferons Phase 1, Phase 2
34 Hormone Antagonists Phase 2
35
Hydroxyitraconazole Phase 2 108222
36 Cytochrome P-450 Enzyme Inhibitors Phase 2
37 Cytochrome P-450 CYP3A Inhibitors Phase 2
38 Keratolytic Agents Phase 2
39 Immunosuppressive Agents Phase 2
40 Immunologic Factors Phase 2
41 Antirheumatic Agents Phase 2
42 Folic Acid Antagonists Phase 2
43 Folate Phase 2
44 Alkylating Agents Phase 2
45 Vitamin B9 Phase 2
46
Etoposide phosphate Phase 2 16760419
47 Antineoplastic Agents, Alkylating Phase 2
48 Antimitotic Agents Phase 2
49 Vitamin B Complex Phase 2
50 Antimetabolites 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 Completed NCT03703310 Phase 3 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
2 A Phase 3, Multicenter, Open-Label Extension Study of Patidegib Topical Gel, 2% in Subjects With Gorlin Syndrome (Basal Cell Nevus Syndrome) Terminated NCT04308395 Phase 3 Patidegib Topical Gel, 2%
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 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
6 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
7 A Phase II Randomized, Double-Blind, Placebo-Controlled Clinical Trial of Celecoxib in Subjects With Basal Cell Nevus Syndrome Completed NCT00023621 Phase 2 celecoxib
8 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
9 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
10 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
11 Phase IIb Open-label Trial of SUBA™-Itraconazole in Subjects With Basal Cell Carcinoma Nevus Syndrome (BCCNS) Completed NCT02354261 Phase 2 SUBA-Itraconazole
12 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
13 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%
14 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
15 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
16 A Phase 2A Study to Assess the Safety and Efficacy of ASN-002 Combined With a Hedgehog Pathway Inhibitor in the Treatment of Multiple Low Risk Basal Cell Carcinomas in Sporadic or Basal Cell Nevus Syndrome Patients Recruiting NCT04416516 Phase 2
17 A Multicenter, Phase 2B, Randomized, Double-Blind, Stratified, Vehicle-Controlled Study Evaluating The Safety And Efficacy Of QTORIN 3.9% Sirolimus Topical Gel In Prevention Of BCCs In Patients With Gorlin Syndrome Recruiting NCT04893486 Phase 2 PTX-022;Vehicle comparator
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 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 Trial of Nivolumab With Vismodegib in Patients With Basal Cell Nevus Syndrome (BCNS) Withdrawn NCT03767439 Phase 2 Vismodegib;Nivolumab;Ipilimumab
22 In Vivo and In Vitro Pharmacology of Sirolimus in Subjects With Basal Cell Nevus Syndrome Completed NCT00433485 Phase 1 sirolimus
23 Photodynamic Therapy and Vismodegib for Multiple Basal Cell Carcinomas Completed NCT02639117 Phase 1 Vismodegib
24 A Phase 1 Multiple Ascending Dose Study of BMS-833923 in Subjects With Advanced or Metastatic Solid Tumors Completed NCT00670189 Phase 1 BMS-833923 (XL139)
25 Vitamin D as a Nutritional Neoadjuvant During Photodynamic Therapy of Basal Cell Carcinoma in Basal Cell Nevus Syndrome Recruiting NCT03467789 Phase 1 Dietary Vitamin D3 pre-treatment;Serum Maintenance Vitamin D3
26 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
27 Extension Protocol of BMS-833923 in Subjects With Basal Cell Nevus Syndrome Completed NCT02100371 BMS-833923
28 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
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 Use Of Isotretinion For Prevention Of Skin Cancer In Patients With Xeroderma Pigmentosum Or Nevoid Basal Cell Carcinoma Syndrome Completed NCT00025012 isotretinoin
31 Registration of Oral Hedgehog Inhibitors Vismodegib and Sonidegib in the Treatment of Advanced and Multiple Basal Cell Carcinoma in the Netherlands: a Prospective Registration Study. Recruiting NCT05463757 Vismodegib;Sonidegib
32 Primordial Registry at Nemours/Alfred I. duPont Hospital for Children Recruiting NCT04569149
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 28 PTCH1 PTCH2 SUFU

Anatomical Context for Basal Cell Nevus Syndrome

Organs/tissues related to Basal Cell Nevus Syndrome:

MalaCards : Skin, Heart, Brain, Lung, Breast, Bone, Pancreatic Islet
ODiseA: Skin

Publications for Basal Cell Nevus Syndrome

Articles related to Basal Cell Nevus Syndrome:

(show top 50) (show all 2096)
# Title Authors PMID Year
1
Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. 62 24 57 5
23479190 2013
2
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. 62 24 57 5
8681379 1996
3
Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. 53 62 57 5
19557015 2009
4
Human homolog of patched, a candidate gene for the basal cell nevus syndrome. 53 62 57 5
8658145 1996
5
Identification of a SUFU germline mutation in a family with Gorlin syndrome. 62 57 5
19533801 2009
6
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. 62 57 5
18285427 2008
7
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 53 62 24 5
16301862 2005
8
Gorlin syndrome with ulcerative colitis in a Japanese girl. 62 57 5
12900905 2003
9
Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. 53 62 24 57
9931336 1999
10
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. 62 57 5
8981943 1997
11
Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. 53 62 24 57
8042673 1994
12
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. 62 24 5
25403219 2014
13
High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. 62 24 5
22508808 2012
14
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. 62 24 57
9096761 1997
15
Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. 62 24 57
8326488 1993
16
The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. 62 24 57
1931625 1991
17
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. 24 5
19833601 2010
18
PTCH1 duplication in a family with microcephaly and mild developmental delay. 53 62 5
18830227 2009
19
PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. 53 62 5
18502968 2008
20
High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome. 53 62 5
17703323 2007
21
Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. 53 62 5
17021131 2006
22
PTCH mutations: distribution and analyses. 53 62 5
16419085 2006
23
Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. 53 62 5
15712338 2005
24
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. 53 62 57
14699618 2004
25
Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome. 53 62 57
11312426 2001
26
De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. 53 62 5
9415689 1997
27
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. 53 62 57
7835901 1994
28
Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. 53 62 57
8001963 1994
29
Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity. 53 62 57
8352281 1993
30
A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome. 62 5
30997576 2019
31
Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients. 62 5
30754660 2019
32
Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same. 62 5
29356994 2018
33
New mutations and an updated database for the patched-1 (PTCH1) gene. 62 5
29575684 2018
34
PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS). 62 5
29277811 2018
35
Co-Inheritance of Autosomal Dominant Polycystic Kidney Disease and Naevoid Basal Cell Carcinoma Syndrome: Effects on Renal Progression. 62 5
30368514 2018
36
Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome. 62 5
28733979 2018
37
Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome. 62 5
28342698 2017
38
Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene. 62 5
27561271 2017
39
Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review. 62 5
25131638 2014
40
Manifestations of Gorlin-Goltz syndrome. 62 5
24814739 2014
41
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. 62 5
24204797 2013
42
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. 62 57
22918513 2013
43
Splicing aberration in naevoid basal cell carcinoma syndrome. 62 5
22434048 2012
44
Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome. 62 5
22572734 2012
45
Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome. 62 5
22952776 2012
46
A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome. 62 5
21514272 2011
47
Patched1 haploinsufficiency increases adult bone mass and modulates Gli3 repressor activity. 62 5
18477452 2008
48
Patched mutations and hairy skin patches: a new sign in Gorlin syndrome. 62 57
16906569 2006
49
[Clinical and genetic study in 22 patients with basal cell nevus syndrome]. 62 5
16508594 2006
50
Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays. 62 5
16203740 2005

Variations for Basal Cell Nevus Syndrome

ClinVar genetic disease variations for Basal Cell Nevus Syndrome:

5 (show top 50) (show all 4224)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 38 genes GRCh37/hg19 9q22.32(97579146-99280739)x1 CN LOSS Pathogenic
217298 GRCh37: 9:97579146-99280739
GRCh38: 9:94816864-96518457
2 PTCH1 and overlap with 2 gene(s) NC_000009.12:g.(?_95442982)_(95508549_?)del DEL Pathogenic
417450 GRCh37: 9:98205264-98270831
GRCh38: 9:95442982-95508549
3 PTCH1, LOC100507346 NC_000009.12:g.(?_95467116)_(95469931_?)del DEL Pathogenic
417458 GRCh37: 9:98229398-98232213
GRCh38: 9:95467116-95469931
4 overlap with 11 genes NC_000009.12:g.(?_95101697)_(95508371_?)del DEL Pathogenic
657386 GRCh37: 9:97863979-98270653
GRCh38: 9:95101697-95508371
5 PTCH1 NC_000009.11:g.(?_98209431)_98224833del DEL Pathogenic
1071965 GRCh37:
GRCh38:
6 PTCH1 NC_000009.11:g.(?_98239031)_(98279100_?)del DEL Pathogenic
1460131 GRCh37: 9:98239031-98279100
GRCh38:
7 PTCH1 and overlap with 2 gene(s) NC_000009.12:g.(?_95446906)_(95508367_?)del DEL Pathogenic
453767 GRCh37: 9:98209188-98270649
GRCh38: 9:95446906-95508367
8 overlap with 2 genes NC_000009.11:g.(?_97863989)_(98279100_?)del DEL Pathogenic
1069835 GRCh37: 9:97863989-98279100
GRCh38:
9 SUFU NM_016169.4(SUFU):c.160del (p.Val54fs) DEL Pathogenic
1684303 GRCh37: 10:104264068-104264068
GRCh38: 10:102504311-102504311
10 PTCH1 NC_000009.11:g.98244306_98244307insAAAGATATTCTATTATCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA INSERT Pathogenic
1069312 GRCh37: 9:98244306-98244307
GRCh38: 9:95482024-95482025
11 PTCH1 NC_000009.11:g.(?_98204264)_(98271831_?)del DEL Pathogenic
1071963 GRCh37: 9:98204264-98271831
GRCh38:
12 PTCH1 GRCh37/hg19 9q22.32(chr9:98207091-98210940)x1 CN LOSS Pathogenic
217297 GRCh37: 9:98207091-98210940
GRCh38: 9:95444809-95448658
13 PTCH1 NC_000009.12:g.(?_95446912)_(95516818_?)del DEL Pathogenic
830750 GRCh37: 9:98209194-98279100
GRCh38:
14 PTCH1 NC_000009.12:g.(?_95449059)_(95449950_?)del DEL Pathogenic
831435 GRCh37: 9:98211341-98212232
GRCh38:
15 PTCH1 NM_000264.5(PTCH1):c.3550del DEL Pathogenic
944874 rs1838244110 GRCh37: 9:98211605-98211605
GRCh38: 9:95449323-95449323
16 PTCH1 NC_000009.11:g.98212121_98212122insC DUP Pathogenic
1068949 GRCh37: 9:98212121-98212122
GRCh38: 9:95449839-95449840
17 PTCH1 NC_000009.11:g.(?_98229392)_(98232219_?)del DEL Pathogenic
1069671 GRCh37: 9:98229392-98232219
GRCh38:
18 overlap with 11 genes NC_000009.12:g.(?_95101700)_(95508367_?)del DEL Pathogenic
456067 GRCh37: 9:97863982-98270649
GRCh38: 9:95101700-95508367
19 PTCH1 NC_000009.11:g.(?_98247957)_(98248166_?)del DEL Pathogenic
1071964 GRCh37: 9:98247957-98248166
GRCh38:
20 PTCH1 NC_000009.11:g.(?_98229388)_(98231445_?)del DEL Pathogenic
1458897 GRCh37: 9:98229388-98231445
GRCh38:
21 PTCH1 NC_000009.11:g.(?_98209194)_(98220585_?)del DEL Pathogenic
1457317 GRCh37: 9:98209194-98220585
GRCh38:
22 PTCH1 NC_000009.11:g.(?_98238306)_(98279100_?)del DEL Pathogenic
1460396 GRCh37: 9:98238306-98279100
GRCh38:
23 PTCH1, LOC100507346 NM_000264.5(PTCH1):c.2444_2454del (p.Ile815fs) DEL Pathogenic
8212 GRCh37: 9:98229504-98229514
GRCh38: 9:95467222-95467232
24 PTCH1 NM_000264.5(PTCH1):c.1081C>T (p.Gln361Ter) SNV Pathogenic
8213 rs199476090 GRCh37: 9:98241416-98241416
GRCh38: 9:95479134-95479134
25 PTCH1 NM_000264.5(PTCH1):c.816_852del (p.Asn272fs) DEL Pathogenic
8214 GRCh37: 9:98242765-98242801
GRCh38: 9:95480483-95480519
26 PTCH1 NM_000264.5(PTCH1):c.1160G>A (p.Trp387Ter) SNV Pathogenic
8215 GRCh37: 9:98241337-98241337
GRCh38: 9:95479055-95479055
27 PTCH1 NM_000264.5(PTCH1):c.2595del (p.Ile868fs) DEL Pathogenic
8218 GRCh37: 9:98224246-98224246
GRCh38: 9:95461964-95461964
28 PTCH1 NM_000264.5(PTCH1):c.1261dup (p.Ser421fs) DUP Pathogenic
8226 GRCh37: 9:98240422-98240423
GRCh38: 9:95478140-95478141
29 PTCH1 NM_000264.5(PTCH1):c.387G>A (p.Trp129Ter) SNV Pathogenic
37076 rs1587692888 GRCh37: 9:98268696-98268696
GRCh38: 9:95506414-95506414
30 PTCH1 NM_000264.5(PTCH1):c.3168+2T>C SNV Pathogenic
188082 rs786204056 GRCh37: 9:98220293-98220293
GRCh38: 9:95458011-95458011
31 PTCH1 NM_000264.5(PTCH1):c.3449+1G>A SNV Pathogenic
215985 rs863224442 GRCh37: 9:98215759-98215759
GRCh38: 9:95453477-95453477
32 PTCH1 NM_000264.5(PTCH1):c.2842_2849del (p.Trp948fs) DEL Pathogenic
216057 rs863224485 GRCh37: 9:98221920-98221927
GRCh38: 9:95459638-95459645
33 PTCH1 NM_000264.5(PTCH1):c.3450-2A>G SNV Pathogenic
215986 rs863224443 GRCh37: 9:98212224-98212224
GRCh38: 9:95449942-95449942
34 PTCH1 NM_000264.5(PTCH1):c.612C>G (p.Tyr204Ter) SNV Pathogenic
216058 rs863224486 GRCh37: 9:98244458-98244458
GRCh38: 9:95482176-95482176
35 PTCH1 NM_000264.5(PTCH1):c.666T>A (p.Tyr222Ter) SNV Pathogenic
216059 rs863224487 GRCh37: 9:98244311-98244311
GRCh38: 9:95482029-95482029
36 PTCH1 NM_000264.5(PTCH1):c.2799del (p.Tyr934fs) DEL Pathogenic
216056 rs863224484 GRCh37: 9:98221970-98221970
GRCh38: 9:95459688-95459688
37 PTCH1 NM_000264.5(PTCH1):c.1591_1601del (p.Ile531fs) DEL Pathogenic
217296 rs863225055 GRCh37: 9:98239042-98239052
GRCh38: 9:95476760-95476770
38 PTCH1 NM_000264.5(PTCH1):c.270_304del (p.Tyr93fs) DEL Pathogenic
220567 rs864622583 GRCh37: 9:98268779-98268813
GRCh38: 9:95506497-95506531
39 PTCH1 NM_000264.5(PTCH1):c.1329del (p.Ser444fs) DEL Pathogenic
220079 rs864622374 GRCh37: 9:98240355-98240355
GRCh38: 9:95478073-95478073
40 PTCH1 NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro) SNV Pathogenic
237478 rs878853856 GRCh37: 9:98215815-98215815
GRCh38: 9:95453533-95453533
41 PTCH1, LOC100507346 NM_000264.5(PTCH1):c.2391C>A (p.Tyr797Ter) SNV Pathogenic
237471 rs778260156 GRCh37: 9:98229567-98229567
GRCh38: 9:95467285-95467285
42 PTCH1 NM_000264.5(PTCH1):c.1615del (p.Glu539fs) DEL Pathogenic
237457 rs878853847 GRCh37: 9:98238429-98238429
GRCh38: 9:95476147-95476147
43 PTCH1 NM_000264.5(PTCH1):c.2561-2A>T SNV Pathogenic
237472 rs878853852 GRCh37: 9:98224282-98224282
GRCh38: 9:95462000-95462000
44 PTCH1 NM_000264.5(PTCH1):c.3460del (p.Ala1154fs) DEL Pathogenic
409127 rs1060502264 GRCh37: 9:98212212-98212212
GRCh38: 9:95449930-95449930
45 PTCH1 NM_000264.5(PTCH1):c.1602+1G>T SNV Pathogenic
409158 rs1060502277 GRCh37: 9:98239040-98239040
GRCh38: 9:95476758-95476758
46 PTCH1 NM_000264.5(PTCH1):c.3003T>A (p.Tyr1001Ter) SNV Pathogenic
409212 rs1060502298 GRCh37: 9:98220460-98220460
GRCh38: 9:95458178-95458178
47 PTCH1 NM_000264.5(PTCH1):c.2974G>T (p.Glu992Ter) SNV Pathogenic
409163 rs1060502278 GRCh37: 9:98220489-98220489
GRCh38: 9:95458207-95458207
48 PTCH1 NM_000264.5(PTCH1):c.1068-2A>T SNV Pathogenic
409147 rs1060502271 GRCh37: 9:98241431-98241431
GRCh38: 9:95479149-95479149
49 PTCH1 NM_000264.5(PTCH1):c.1208_1209del (p.Tyr403fs) MICROSAT Pathogenic
409183 rs1060502286 GRCh37: 9:98241288-98241289
GRCh38: 9:95479006-95479007
50 PTCH1 NM_000264.5(PTCH1):c.454_455del (p.Met152fs) DEL Pathogenic
409169 rs1060502280 GRCh37: 9:98248096-98248097
GRCh38: 9:95485814-95485815

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:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 256420 9 93000000 101600000 Copy number PTCH1 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 GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.27 CTNNB1 DHH GAS1 GLI1 GLI2 GLI3
2
Show member pathways
13.76 TP53 SUFU SMO ROR2 PTCH2 PTCH1
3 13.65 CTNNB1 DHH GAS1 GLI1 GLI2 GLI3
4
Show member pathways
13.53 SUFU SMO ROR2 PTCH2 PTCH1 IHH
5
Show member pathways
13.19 SUFU SMO PTCH2 PTCH1 IHH GLI1
6
Show member pathways
12.65 GLI1 GLI2 GLI3 PTCH1 PTCH2 SMO
7
Show member pathways
12.42 SMO SHH PTCH2 PTCH1 IHH DHH
8 12.28 SUFU SHH PTCH2 PTCH1 GLI2 GLI1
9
Show member pathways
12.15 DHH GAS1 GLI1 GLI2 GLI3 HHIP
10
Show member pathways
12.08 SUFU SMO PTCH1 KIF7 GLI3
11 12.05 SHH ROR2 GLI3 CTNNB1
12 11.97 SUFU SMO KIF7 GLI3 GLI2
13 11.73 TP53 SHH CTNNB1
15 11.59 DHH GAS1 GLI1 GLI2 GLI3 HHIP
16
Show member pathways
11.58 IHH GLI3 GLI2
17 11.53 SMO SHH MYCN GLI3 GLI2 GLI1
18 11.45 GLI1 GLI2 GLI3 PTCH1 SHH SMO
19 11.44 SMO SHH PTCH1 IHH GLI2 GLI1
20 11.42 SHH GLI3 CTNNB1
21
Show member pathways
11.42 GLI1 GLI2 GLI3 PTCH1 SMO
22 11.25 SMO SHH PTCH1 GLI2 GLI1
23 11.24 SHH GLI2 GLI1
24
Show member pathways
10.88 DHH GAS1 GLI2 GLI3 HHIP IHH
25 10.78 SHH PTCH1 GLI1
26
Show member pathways
10.63 SHH GLI3
27 10.53 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 9.9 SUFU SMO PTCH1 KIF7 GLI3 GLI2
2 ciliary base GO:0097546 9.86 SUFU GLI3 GLI2 GLI1
3 ciliary tip GO:0097542 9.73 SUFU SMO KIF7 GLI3 GLI2 GLI1
4 GLI-SUFU complex GO:1990788 9.17 SUFU GLI3 GLI2 GLI1

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

(show top 50) (show all 100)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.71 TP53 SMO SHH MYCN IHH GLI3
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.67 TP53 SUFU SMO SHH PTCH1 GLI3
3 positive regulation of DNA-templated transcription GO:0045893 10.62 CTNNB1 GLI1 GLI2 GLI3 MYCN PTCH1
4 negative regulation of apoptotic process GO:0043066 10.55 TP53 SMO SHH IHH HHIP GLI3
5 in utero embryonic development GO:0001701 10.44 TP53 SMO PTCH1 IHH GLI3 GLI2
6 negative regulation of gene expression GO:0010629 10.43 CTNNB1 MYCN SHH SMO TP53
7 positive regulation of cell population proliferation GO:0008284 10.43 SMO SHH KDM4C IHH GLI2 GLI1
8 heart development GO:0007507 10.4 TP53 SHH NF1 GLI3 GLI2 CTNNB1
9 negative regulation of canonical Wnt signaling pathway GO:0090090 10.38 SHH GLI3 GLI1 CTNNB1
10 protein import into nucleus GO:0006606 10.38 TP53 SMO SHH NF1 GLI3
11 regulation of gene expression GO:0010468 10.35 CTNNB1 DHH GLI3 IHH KDM4C NF1
12 response to estradiol GO:0032355 10.34 PTCH1 IHH DHH CTNNB1
13 lung development GO:0030324 10.33 CTNNB1 GLI1 GLI2 GLI3 SHH
14 odontogenesis of dentin-containing tooth GO:0042475 10.33 SMO SHH GLI3 GLI2 CTNNB1
15 heart looping GO:0001947 10.32 SUFU SMO SHH IHH
16 branching involved in ureteric bud morphogenesis GO:0001658 10.3 SHH PTCH1 GLI3 CTNNB1
17 T cell differentiation in thymus GO:0033077 10.29 TP53 SHH GLI3 CTNNB1
18 oligodendrocyte differentiation GO:0048709 10.28 CTNNB1 GLI3 NF1 SHH
19 hair follicle morphogenesis GO:0031069 10.27 SMO SHH GLI2 CTNNB1
20 positive regulation of neuroblast proliferation GO:0002052 10.27 CTNNB1 GLI3 SHH SMO
21 central nervous system development GO:0007417 10.26 TP53 SMO SHH GLI3
22 proximal/distal pattern formation GO:0009954 10.26 GLI3 GLI2 GLI1 CTNNB1
23 cell fate specification GO:0001708 10.26 CTNNB1 DHH IHH SHH SMO
24 positive regulation of neuron apoptotic process GO:0043525 10.25 TP53 NF1 CTNNB1
25 embryonic digit morphogenesis GO:0042733 10.25 SHH IHH GLI3 GLI2 CTNNB1
26 positive regulation of protein import into nucleus GO:0042307 10.24 GLI3 SHH SMO
27 metanephros development GO:0001656 10.24 SHH NF1 GLI3
28 negative regulation of stem cell proliferation GO:2000647 10.24 TP53 PTCH1 NF1 GLI3
29 anterior/posterior pattern specification GO:0009952 10.23 SMO SHH GLI3 GLI2
30 branching involved in blood vessel morphogenesis GO:0001569 10.23 CTNNB1 IHH SHH
31 liver regeneration GO:0097421 10.23 PTCH1 IHH GLI1
32 pancreas development GO:0031016 10.22 SHH IHH CTNNB1
33 protein autoprocessing GO:0016540 10.22 SHH IHH DHH
34 regulation of smoothened signaling pathway GO:0008589 10.21 GAS1 GLI1 PTCH1
35 regulation of cell population proliferation GO:0042127 10.21 TP53 SHH PTCH1 NF1 GLI3 CTNNB1
36 osteoblast differentiation GO:0001649 10.21 SMO NF1 IHH GLI3 GLI2 GLI1
37 positive regulation of epithelial cell proliferation GO:0050679 10.2 GLI2 IHH SHH SMO
38 male genitalia development GO:0030539 10.2 SHH ROR2 CTNNB1
39 hindbrain development GO:0030902 10.2 SHH GLI2 CTNNB1
40 embryonic digestive tract morphogenesis GO:0048557 10.19 SHH IHH GLI3
41 chondrocyte differentiation GO:0002062 10.19 CTNNB1 GLI2 GLI3 IHH
42 negative regulation of chondrocyte differentiation GO:0032331 10.19 IHH GLI3 GLI2 CTNNB1
43 positive regulation of mesenchymal cell proliferation GO:0002053 10.19 SMO SHH IHH CTNNB1
44 somite development GO:0061053 10.19 SMO SHH PTCH1 IHH
45 prostate gland development GO:0030850 10.18 SHH PTCH1 GLI1
46 self proteolysis GO:0097264 10.18 SHH IHH DHH
47 positive regulation of T cell differentiation in thymus GO:0033089 10.18 GLI2 IHH SHH
48 embryonic limb morphogenesis GO:0030326 10.17 GLI3 PTCH1 SHH
49 kidney development GO:0001822 10.17 SHH GLI3 GLI2 CTNNB1
50 positive regulation of alpha-beta T cell differentiation GO:0046638 10.17 GLI3 IHH 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 9.63 PTCH2 PTCH1 HHIP
2 hedgehog receptor activity GO:0008158 9.62 PTCH2 PTCH1
3 smoothened binding GO:0005119 9.56 PTCH2 PTCH1
4 cholesterol-protein transferase activity GO:0140853 9.43 SHH IHH DHH
5 patched binding GO:0005113 9.32 SMO SHH PTCH1 IHH DHH

Sources for Basal Cell Nevus Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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