Basal Cell Nevus Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BCNS MCID: BSL036 MIFTS: 74	Basal Cell Nevus Syndrome (BCNS) Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Neoplasms

Melanoma and other malignant neoplasms of skin

Other malignant neoplasms of skin

Malignant neoplasm: Malignant neoplasm of skin, unspecified

ICD11: ³³

Developmental anomalies

Multiple developmental anomalies or syndromes

Phakomatoses or hamartoneoplastic syndromes

Gorlin syndrome

Orphanet: ⁵⁸

Rare neurological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:2512

OMIM® ⁵⁷ 109400

MeSH ⁴³ D001478

NCIt ⁴⁹ C2892

SNOMED-CT ⁶⁸ 69408002

ICD10 via Orphanet ³² C44.9

UMLS via Orphanet ⁷² C0004779 C0812437

Orphanet ⁵⁸ ORPHA377

MedGen ⁴⁰ C0004779

ICD11 ³³ 1012745138

UMLS ⁷¹ C0004779

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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

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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:

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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

Sources

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

Verteporfin

Approved, Investigational

Phase 3

129497-78-5

5362420

Veratrum Alkaloids

Phase 3

Antihypertensive Agents

Phase 3

Dermatologic Agents

Phase 3

Photosensitizing Agents

Phase 3

Tazarotene

Approved, Investigational

Phase 2

118292-40-3

5381

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 2

23593-75-1

2812

Celecoxib

Approved, Investigational

Phase 2

169590-42-5

2662

Aminolevulinic acid

Approved

Phase 2

106-60-5

137

Fluorouracil

Approved

Phase 1, Phase 2

51-21-8

3385

Itraconazole

Approved, Investigational

Phase 2

84625-61-6

55283

Sirolimus

Approved, Investigational

Phase 2

53123-88-9

5284616 6436030

Carboplatin

Approved

Phase 2

41575-94-4

10339178 38904

Etoposide

Approved

Phase 2

33419-42-0

36462

Cyclophosphamide

Approved, Investigational

Phase 2

50-18-0, 6055-19-2

2907

Vincristine

Approved, Investigational

Phase 2

2068-78-2, 57-22-7

5978

Picropodophyllin

Approved, Investigational

Phase 2

518-28-5, 477-47-4

10607 72435

Levoleucovorin

Approved, Experimental, Investigational

Phase 2

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Methotrexate

Approved

Phase 2

1959-05-2, 59-05-2

4112 126941

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 2

59-30-3

6037

Asparagine

Approved, Investigational, Nutraceutical

Phase 1, Phase 2

70-47-3

6267

Anti-Infective Agents

Phase 2

Antifungal Agents

Phase 2

Cyclooxygenase Inhibitors

Phase 2

Cyclooxygenase 2 Inhibitors

Phase 2

Anti-Inflammatory Agents, Non-Steroidal

Phase 2

Anti-Inflammatory Agents

Phase 2

Analgesics, Non-Narcotic

Phase 2

Analgesics

Phase 2

Hormones

Phase 2

Pharmaceutical Solutions

Phase 2

interferons

Phase 1, Phase 2

Hormone Antagonists

Phase 2

Hydroxyitraconazole

Phase 2

108222

Cytochrome P-450 Enzyme Inhibitors

Phase 2

Cytochrome P-450 CYP3A Inhibitors

Phase 2

Keratolytic Agents

Phase 2

Immunosuppressive Agents

Phase 2

Immunologic Factors

Phase 2

Antirheumatic Agents

Phase 2

Folic Acid Antagonists

Phase 2

Folate

Phase 2

Alkylating Agents

Phase 2

Vitamin B9

Phase 2

Etoposide phosphate

Phase 2

16760419

Antineoplastic Agents, Alkylating

Phase 2

Antimitotic Agents

Phase 2

Vitamin B Complex

Phase 2

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

Sources

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

Sources

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

Sources

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	Fujii K...Miyashita T	23479190	2013
2	Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. ⁶² ²⁴ ⁵⁷ ⁵	Hahn H...Bale AE	8681379	1996
3	Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. ⁵³ ⁶² ⁵⁷ ⁵	Takahashi C...Nakano Y	19557015	2009
4	Human homolog of patched, a candidate gene for the basal cell nevus syndrome. ⁵³ ⁶² ⁵⁷ ⁵	Johnson RL...Scott MP	8658145	1996
5	Identification of a SUFU germline mutation in a family with Gorlin syndrome. ⁶² ⁵⁷ ⁵	Pastorino L...Scarra GB	19533801	2009
6	A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. ⁶² ⁵⁷ ⁵	Fan Z...Wang S	18285427	2008
7	Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. ⁵³ ⁶² ²⁴ ⁵	Klein RD...Bale AE	16301862	2005
8	Gorlin syndrome with ulcerative colitis in a Japanese girl. ⁶² ⁵⁷ ⁵	Fujii K...Kohno Y	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	Smyth I...Wainwright BJ	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	Wicking C...Chenevix-Trench G	8981943	1997
11	Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. ⁵³ ⁶² ²⁴ ⁵⁷	Shanley S...Chenevix-Trench G	8042673	1994
12	Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. ⁶² ²⁴ ⁵	Smith MJ...Evans DG	25403219	2014
13	High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. ⁶² ²⁴ ⁵	Brugieres L...Grill J	22508808	2012
14	Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. ⁶² ²⁴ ⁵⁷	Kimonis VE...Bale SJ	9096761	1997
15	Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. ⁶² ²⁴ ⁵⁷	Evans DG...Farndon PA	8326488	1993
16	The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. ⁶² ²⁴ ⁵⁷	Evans DG...Birch JM	1931625	1991
17	Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. ²⁴ ⁵	Brugieres L...Delattre O	19833601	2010
18	PTCH1 duplication in a family with microcephaly and mild developmental delay. ⁵³ ⁶² ⁵	Derwinska K...Stankiewicz P	18830227	2009
19	PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. ⁵³ ⁶² ⁵	Sun LS...Li TJ	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	Fujii K...Miyashita T	17703323	2007
21	Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. ⁵³ ⁶² ⁵	Matsuzawa N...Yoshiura KI	17021131	2006
22	PTCH mutations: distribution and analyses. ⁵³ ⁶² ⁵	Lindstrom E...Zaphiropoulos PG	16419085	2006
23	Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. ⁵³ ⁶² ⁵	Pastorino L...Bianchi-Scarra G	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	Midro AT...Tommerup N	14699618	2004
25	Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome. ⁵³ ⁶² ⁵⁷	Chiritescu E...Maloney ME	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	Wicking C...Chenevix-Trench G	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	Farndon PA...Reis A	7835901	1994
28	Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. ⁵³ ⁶² ⁵⁷	Wicking C...Chenevix-Trench G	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	Chenevix-Trench G...Goldgar D	8352281	1993
30	A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome. ⁶² ⁵	Zhou J...Shi X	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	Martinez MF...Azurmendi PJ	30754660	2019
32	Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same. ⁶² ⁵	Huq AJ...Winship IM	29356994	2018
33	New mutations and an updated database for the patched-1 (PTCH1) gene. ⁶² ⁵	Reinders MG...Gille JJ	29575684	2018
34	PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS). ⁶² ⁵	Ponti G...Pellacani G	29277811	2018
35	Co-Inheritance of Autosomal Dominant Polycystic Kidney Disease and Naevoid Basal Cell Carcinoma Syndrome: Effects on Renal Progression. ⁶² ⁵	Martinez MF...Azurmendi PJ	30368514	2018
36	Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome. ⁶² ⁵	Alonso N...Gonzalez-Sarmiento R	28733979	2018
37	Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome. ⁶² ⁵	Matsudate Y...Kubo Y	28342698	2017
38	Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene. ⁶² ⁵	Kato C...Miyashita T	27561271	2017
39	Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review. ⁶² ⁵	Fujii K...Miyashita T	25131638	2014
40	Manifestations of Gorlin-Goltz syndrome. ⁶² ⁵	Larsen AK...Bygum A	24814739	2014
41	PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. ⁶² ⁵	Guo YY...Li TJ	24204797	2013
42	Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. ⁶² ⁵⁷	Kimonis VE...Bale SJ	22918513	2013
43	Splicing aberration in naevoid basal cell carcinoma syndrome. ⁶² ⁵	Ishitsuka Y...Otsuka F	22434048	2012
44	Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome. ⁶² ⁵	Suzuki M...Miyashita T	22572734	2012
45	Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome. ⁶² ⁵	Pastorino L...Ponti G	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	Zhang T...Chen W	21514272	2011
47	Patched1 haploinsufficiency increases adult bone mass and modulates Gli3 repressor activity. ⁶² ⁵	Ohba S...Chung UI	18477452	2008
48	Patched mutations and hairy skin patches: a new sign in Gorlin syndrome. ⁶² ⁵⁷	Wilson LC...Maas SM	16906569	2006
49	[Clinical and genetic study in 22 patients with basal cell nevus syndrome]. ⁶² ⁵	Pruvost-Balland C...Avril MF	16508594	2006
50	Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays. ⁶² ⁵	Nagao K...Miyashita T	16203740	2005

Sources

Genes for Basal Cell Nevus Syndrome

Genes related to Basal Cell Nevus Syndrome (4 elite genes):

(show top 50) (show all 54)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PTCH1	Patched 1	Protein Coding	1727.36	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	8658145 8681379 8981943 (more) 9415689 9536098 10200051 12900905 12925203 15459969 15712338 16199547 16203740 16301862 16419085 16508594 17021131 17576681 17703323 18477452 18502968 18830227 19557015 20301330 22382802 22434048 22572734 22952776 24204797 24814739 25131638 27561271 28733979 29277811 29575684 30166346 30368514 30754660 30997576 34008892 21514272 25640679 28342698 19032739 18302678 18272036 8352281 12604725 20068110 11457640 15565302 8060441 8001963 7829076 11174390 11340611 12175781 12655573 14626660 16914743 16484983 17258529 19915949 20115971 9071574 11000293 15690381 16733713 10653132 9931336 10874314 19165028 15725922 15545745 15316550 14986757 12204003 19728145 19362041 19213655 17632781 17221269 15688838 11231326 7477045 20371205 16620627 19243411 10375116 10332131 9140104 7835901 8042673 19521425 18068337 14987156 11744885 11312426 10890722 10738305 17214858 16855496 11277394 8895761 19320658 18477436 18353202 17328283 16227103 16088933 15242385 11896785 10504535 9262482 16675912 18436435 2297704 7634433 9187099 12542834 14699618 14735326 16999341 17492539 18347458 19020777
2	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	1392.28	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	16199547 19833601 21188540 (more) 22508808 25403219 28965847 29753700 9536098 12068298 17576681 25640679 29356994 19533801 22829011
3	PTCH2	Patched 2	Protein Coding	966.75	Molecular basis known ⁵⁷ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	18285427 23479190
4	LOC100507346	Uncharacterized LOC100507346	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	8658145 8681379 12925203 (more) 16301862 16419085 20301330 25131638 27561271 29277811 28342698
5	ROR2	Receptor Tyrosine Kinase Like Orphan Receptor 2	Protein Coding	17.02	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12548386
6	GAS1	Growth Arrest Specific 1	Protein Coding	14.42	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7956349
7	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	8.13	DISEASES inferred ¹⁴
8	GLI1	GLI Family Zinc Finger 1	Protein Coding	7.95	DISEASES inferred ¹⁴
9	GLI2	GLI Family Zinc Finger 2	Protein Coding	7.66	DISEASES inferred ¹⁴
10	GLI3	GLI Family Zinc Finger 3	Protein Coding	7.25	DISEASES inferred ¹⁴
11	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	6.81	DISEASES inferred ¹⁴
12	DHH	Desert Hedgehog Signaling Molecule	Protein Coding	6.49	DISEASES inferred ¹⁴
13	TP53	Tumor Protein P53	Protein Coding	6.32	DISEASES inferred ¹⁴
14	KDM4C	Lysine Demethylase 4C	Protein Coding	6.22	DISEASES inferred ¹⁴ ¹⁴
15	HHIP	Hedgehog Interacting Protein	Protein Coding	6.17	DISEASES inferred ¹⁴
16	SMO	Smoothened, Frizzled Class Receptor	Protein Coding	6.15	DISEASES inferred ¹⁴
17	MYCN	MYCN Proto-Oncogene, BHLH Transcription Factor	Protein Coding	6.03	DISEASES inferred ¹⁴
18	KIF7	Kinesin Family Member 7	Protein Coding	5.64	DISEASES inferred ¹⁴
19	CTNNB1	Catenin Beta 1	Protein Coding	5.55	DISEASES inferred ¹⁴
20	NF1	Neurofibromin 1	Protein Coding	5.5	DISEASES inferred ¹⁴
21	OTX2	Orthodenticle Homeobox 2	Protein Coding	5.47	DISEASES inferred ¹⁴
22	MC1R	Melanocortin 1 Receptor	Protein Coding	5.44	DISEASES inferred ¹⁴
23	CDON	Cell Adhesion Associated, Oncogene Regulated	Protein Coding	5.44	DISEASES inferred ¹⁴
24	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	5.42	DISEASES inferred ¹⁴
25	CCND1	Cyclin D1	Protein Coding	5.29	DISEASES inferred ¹⁴
26	NOTCH1	Notch Receptor 1	Protein Coding	5.26	DISEASES inferred ¹⁴
27	GPR161	G Protein-Coupled Receptor 161	Protein Coding	5.26	DISEASES inferred ¹⁴
28	BCL2	BCL2 Apoptosis Regulator	Protein Coding	5.22	DISEASES inferred ¹⁴
29	NF2	NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor	Protein Coding	5.2	DISEASES inferred ¹⁴
30	OXNAD1	Oxidoreductase NAD Binding Domain Containing 1	Protein Coding	5.2	DISEASES inferred ¹⁴
31	BOC	BOC Cell Adhesion Associated, Oncogene Regulated	Protein Coding	5.19	DISEASES inferred ¹⁴
32	DDX3X	DEAD-Box Helicase 3 X-Linked	Protein Coding	5.18	DISEASES inferred ¹⁴
33	ATOH1	Atonal BHLH Transcription Factor 1	Protein Coding	5.15	DISEASES inferred ¹⁴
34	DPH3	Diphthamide Biosynthesis 3	Protein Coding	5.13	DISEASES inferred ¹⁴
35	SAP18	Sin3A Associated Protein 18	Protein Coding	5.13	DISEASES inferred ¹⁴
36	HHAT	Hedgehog Acyltransferase	Protein Coding	5.09	DISEASES inferred ¹⁴
37	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	5.08	DISEASES inferred ¹⁴
38	RPUSD1	RNA Pseudouridine Synthase Domain Containing 1	Protein Coding	5.02	DISEASES inferred ¹⁴
39	TMEM273	Transmembrane Protein 273	Protein Coding	5.01	DISEASES inferred ¹⁴
40	RAB23	RAB23, Member RAS Oncogene Family	Protein Coding	5	DISEASES inferred ¹⁴
41	FANCC	FA Complementation Group C	Protein Coding	4.99	DISEASES inferred ¹⁴
42	TM7SF3	Transmembrane 7 Superfamily Member 3	Protein Coding	4.98	DISEASES inferred ¹⁴
43	HIP1	Huntingtin Interacting Protein 1	Protein Coding	4.97	DISEASES inferred ¹⁴
44	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	4.97	DISEASES inferred ¹⁴
45	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	4.93	DISEASES inferred ¹⁴
46	TERT	Telomerase Reverse Transcriptase	Protein Coding	4.92	DISEASES inferred ¹⁴
47	PTEN	Phosphatase And Tensin Homolog	Protein Coding	4.9	DISEASES inferred ¹⁴
48	PAX7	Paired Box 7	Protein Coding	4.9	DISEASES inferred ¹⁴
49	GSE1	Gse1 Coiled-Coil Protein	Protein Coding	4.86	DISEASES inferred ¹⁴
50	PAX3	Paired Box 3	Protein Coding	4.84	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Basal Cell Nevus Syndrome

Search GEO for disease gene expression data for Basal Cell Nevus Syndrome.

Sources

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	Regulation of activated PAK-2p34 by proteasome mediated degradation ⁶⁶ Show member pathways ABC transporter disorders ⁶⁶ ABC transporters in lipid homeostasis ⁶⁶ ABC-family proteins mediated transport ⁶⁶ Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins ⁶⁶ Activation of NF-kappaB in B cells ⁶⁶ Activation of SMO ⁶⁶ APC/C:Cdc20 mediated degradation of mitotic proteins ⁶⁶ APC/C:Cdc20 mediated degradation of Securin ⁶⁶ APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 ⁶⁶ APC/C-mediated degradation of cell cycle proteins ⁶⁶ APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint ⁶⁶ Asymmetric localization of PCP proteins ⁶⁶ AUF1 (hnRNP D0) binds and destabilizes mRNA ⁶⁶ Autodegradation of Cdh1 by Cdh1:APC/C ⁶⁶ Autodegradation of the E3 ubiquitin ligase COP1 ⁶⁶ Beta-catenin independent WNT signaling ⁶⁶ Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA ⁶⁶ Ca2+ pathway ⁶⁶ Calcineurin activates NFAT ⁶⁶ Cdc20:Phospho-APC/C mediated degradation of Cyclin A ⁶⁶ CDK-mediated phosphorylation and removal of Cdc6 ⁶⁶ Cellular response to hypoxia ⁶⁶ Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase ⁶⁶ Cross-presentation of soluble exogenous antigens (endosomes) ⁶⁶ Cyclin A:Cdk2-associated events at S phase entry ⁶⁶ Cyclin E associated events during G1/S transition ⁶⁶ Dectin-1 mediated noncanonical NF-kB signaling ⁶⁶ Defective ABCA12 causes ARCI4B ⁶⁶ Defective ABCB6 causes MCOPCB7 ⁶⁶ Defective CFTR causes cystic fibrosis ⁶⁶ Degradation of AXIN ⁶⁶ Degradation of beta-catenin by the destruction complex ⁶⁶ Degradation of DVL ⁶⁶ Degradation of GLI1 by the proteasome ⁶⁶ Degradation of GLI2 by the proteasome ⁶⁶ Downstream signaling events of B Cell Receptor (BCR) ⁶⁶ Establishment of Sister Chromatid Cohesion ⁶⁶ FBXL7 down-regulates AURKA during mitotic entry and in early mitosis ⁶⁶ Fc epsilon receptor (FCERI) signaling ⁶⁶ FCERI mediated NF-kB activation ⁶⁶ G1/S DNA Damage Checkpoints ⁶⁶ GLI3 is processed to GLI3R by the proteasome ⁶⁶ GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2 ⁶⁶ Hedgehog ligand biogenesis ⁶⁶ Hedgehog 'on' state ⁶⁶ Hh mutants abrogate ligand secretion ⁶⁶ Hh mutants are degraded by ERAD ⁶⁶ HuR (ELAVL1) binds and stabilizes mRNA ⁶⁶ Immune response Antigen presentation by MHC class I ²² Interconversion of polyamines ⁶⁶ KSRP (KHSRP) binds and destabilizes mRNA ⁶⁶ MAPK6/MAPK4 signaling ⁶⁶ Metabolism of polyamines ⁶⁶ Mitochondrial ABC transporters ⁶⁶ Negative regulation of NOTCH4 signaling ⁶⁶ NIK-->noncanonical NF-kB signaling ⁶⁶ NOTCH4 Activation and Transmission of Signal to the Nucleus ⁶⁶ NOTCH4 Intracellular Domain Regulates Transcription ⁶⁶ Orc1 removal from chromatin ⁶⁶ Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha ⁶⁶ p53-Dependent G1 DNA Damage Response ⁶⁶ p53-Dependent G1/S DNA damage checkpoint ⁶⁶ p53-Independent DNA Damage Response ⁶⁶ p53-Independent G1/S DNA damage checkpoint ⁶⁶ PAOs oxidise polyamines to amines ⁶⁶ Parkinson's Disease Pathway ⁶⁴ Parkin-ubiquitin proteasomal system pathway ⁷⁴ PCP/CE pathway ⁶⁶ Phosphorylation of the APC/C ⁶⁶ Proteasome degradation ⁷⁴ Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway ²² putrescine biosynthesis III ⁶¹ RAS signaling downstream of NF1 loss-of-function variants ⁶⁶ Regulation of APC/C activators between G1/S and early anaphase ⁶⁶ Regulation of Apoptosis ⁶⁶ Regulation of gene expression by Hypoxia-inducible Factor ⁶⁶ Regulation of mitotic cell cycle ⁶⁶ Regulation of mRNA stability by proteins that bind AU-rich elements ⁶⁶ Regulation of ornithine decarboxylase (ODC) ⁶⁶ Regulation of PAK-2p34 activity by PS-GAP/RHG10 ⁶⁶ Regulation of PTEN stability and activity ⁶⁶ Regulation of RAS by GAPs ⁶⁶ Regulation of RUNX2 expression and activity ⁶⁶ Regulation of RUNX3 expression and activity ⁶⁶ Release of Hh-Np from the secreting cell ⁶⁶ Repression of WNT target genes ⁶⁶ Role of LAT2/NTAL/LAB on calcium mobilization ⁶⁶ RUNX2 regulates genes involved in cell migration ⁶⁶ RUNX3 regulates BCL2L11 (BIM) transcription ⁶⁶ RUNX3 regulates CDKN1A transcription ⁶⁶ RUNX3 Regulates Immune Response and Cell Migration ⁶⁶ RUNX3 regulates NOTCH signaling ⁶⁶ RUNX3 regulates p14-ARF ⁶⁶ RUNX3 regulates RUNX1-mediated transcription ⁶⁶ RUNX3 regulates WNT signaling ⁶⁶ RUNX3 regulates YAP1-mediated transcription ⁶⁶ S Phase ⁶⁶ SCF(Skp2)-mediated degradation of p27/p21 ⁶⁶ SCF-beta-TrCP mediated degradation of Emi1 ⁶⁶ Signaling by NOTCH4 ⁶⁶ Signaling by TCF7L2 mutants ⁶⁶ Signaling by the B Cell Receptor (BCR) ⁶⁶ spermine and spermidine degradation I ⁶¹ Stabilization of p53 ⁶⁶ superpathway of polyamine biosynthesis II ⁶¹ Switching of origins to a post-replicative state ⁶⁶ Synthesis of DNA ⁶⁶ The role of GTSE1 in G2/M progression after G2 checkpoint ⁶⁶ TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway ⁶⁶ TNFR2 non-canonical NF-kB pathway ⁶⁶ Transcriptional regulation by RUNX2 ⁶⁶ Transcriptional regulation by RUNX3 ⁶⁶ Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA ⁶⁶ Ubiquitin Mediated Degradation of Phosphorylated Cdc25A ⁶⁶ Ubiquitin-dependent degradation of Cyclin D ⁶⁶ UCH proteinases ⁶⁶ Vif-mediated degradation of APOBEC3G ⁶⁶ Vpu mediated degradation of CD4 ⁶⁶ WNT5A-dependent internalization of FZD2, FZD5 and ROR2 ⁶⁶ WNT5A-dependent internalization of FZD4 ⁶⁶	14.27	CTNNB1 DHH GAS1 GLI1 GLI2 GLI3
2	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.76	TP53 SUFU SMO ROR2 PTCH2 PTCH1
3	Signal Transduction ⁶⁶	13.65	CTNNB1 DHH GAS1 GLI1 GLI2 GLI3
4	Activation of cAMP-Dependent PKA ⁶⁴ Show member pathways Activation of PKA through GPCR ⁶⁴ cAMP Pathway ⁶⁴ PKA Signaling ⁶⁴	13.53	SUFU SMO ROR2 PTCH2 PTCH1 IHH
5	ADORA2B mediated anti-inflammatory cytokines production ⁶⁶ Show member pathways Alpha-Adrenergic Signaling ⁶⁴ Androgen receptor signaling pathway ⁷⁴ Anti-inflammatory response favouring Leishmania parasite infection ⁶⁶ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶⁰ CD163 mediating an anti-inflammatory response ⁶⁶ Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²² G alpha (z) signalling events ⁶⁶ G protein signaling pathways ⁷⁴ Glucagon signaling in metabolic regulation ⁶⁶ GPER1 signaling ⁶⁶ Hedgehog Signaling in Mammals ⁶⁴ Leishmania infection ⁶⁶ Leishmania parasite growth and survival ⁶⁶ LTC4-CYSLTR mediated IL4 production ⁶⁶ Relaxin Pathway ⁶⁴ Signal transduction cAMP signaling ²²	13.19	SUFU SMO PTCH2 PTCH1 IHH GLI1
6	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.65	GLI1 GLI2 GLI3 PTCH1 PTCH2 SMO
7	Presynaptic function of Kainate receptors ⁶⁶ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁶ Activation of kainate receptors upon glutamate binding ⁶⁶ Activation of Na-permeable kainate receptors ⁶⁶ Calcitonin-like ligand receptors ⁶⁶ Class B/2 (Secretin family receptors) ⁶⁶ G beta:gamma signalling through PLC beta ⁶⁶ Glucagon-type ligand receptors ⁶⁶ G-Protein Signaling through Tubby Protein ⁶⁴ Ionotropic activity of kainate receptors ⁶⁶	12.42	SMO SHH PTCH2 PTCH1 IHH DHH
8	Wnt / Hedgehog / Notch ³	12.28	SUFU SHH PTCH2 PTCH1 GLI2 GLI1
9	Signaling by Hedgehog ⁶⁶ Show member pathways Hedgehog 'off' state ⁶⁶	12.15	DHH GAS1 GLI1 GLI2 GLI3 HHIP
10	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	12.08	SUFU SMO PTCH1 KIF7 GLI3
11	Ectoderm differentiation ⁷⁴	12.05	SHH ROR2 GLI3 CTNNB1
12	Ciliopathies ⁷⁴	11.97	SUFU SMO KIF7 GLI3 GLI2
13	Thyroid hormones production and peripheral downstream signaling effects ⁷⁴	11.73	TP53 SHH CTNNB1
14	Osteoblast differentiation and related diseases ⁷⁴	11.71	SMO PTCH1 IHH GLI3 GLI2 CTNNB1
15	Hedgehog signaling pathway ⁷⁴	11.59	DHH GAS1 GLI1 GLI2 GLI3 HHIP
16	RUNX2 regulates bone development ⁶⁶ Show member pathways RUNX2 regulates chondrocyte maturation ⁶⁶ RUNX2 regulates osteoblast differentiation ⁶⁶	11.58	IHH GLI3 GLI2
17	Development of ureteric collection system ⁷⁴	11.53	SMO SHH MYCN GLI3 GLI2 GLI1
18	Hedgehog signaling events mediated by Gli proteins ⁶¹	11.45	GLI1 GLI2 GLI3 PTCH1 SHH SMO
19	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.44	SMO SHH PTCH1 IHH GLI2 GLI1
20	Genes controlling nephrogenesis ⁷⁴	11.42	SHH GLI3 CTNNB1
21	Tumor suppressor activity of SMARCB1 ⁷⁴ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶	11.42	GLI1 GLI2 GLI3 PTCH1 SMO
22	Hair follicle development: organogenesis - part 2 of 3 ⁷⁴	11.25	SMO SHH PTCH1 GLI2 GLI1
23	Dopaminergic neurogenesis ⁷⁴	11.24	SHH GLI2 GLI1
24	Signaling events mediated by the Hedgehog family ⁶¹ Show member pathways HHAT G278V doesn't palmitoylate Hh-Np ⁶⁶ Ligand-receptor interactions ⁶⁶	10.88	DHH GAS1 GLI2 GLI3 HHIP IHH
25	EDA signaling in hair follicle development ⁷⁴	10.78	SHH PTCH1 GLI1
26	Tgif disruption of Shh signaling ⁷⁴ Show member pathways mir34a and TGIF2 in osteoclastogenesis ⁷⁴	10.63	SHH GLI3
27	Glypican 3 network ⁶¹	10.53	SHH PTCH1

Sources

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