MCID: BSL036
MIFTS: 65

Basal Cell Nevus Syndrome malady

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

Aliases & Classifications for Basal Cell Nevus Syndrome

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Aliases & Descriptions for Basal Cell Nevus Syndrome:

Name: Basal Cell Nevus Syndrome 52 11 23 48 24 25 54 70 12 39 68
Nevoid Basal Cell Carcinoma Syndrome 11 23 48 24 25 54 50 13
Gorlin Syndrome 11 23 48 24 25 54 27
Nbccs 23 24 25 54
Gorlin-Goltz Syndrome 48 25 54
 
Bcns 23 25 70
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies 48
Gorlin Syndrome or Gorlin-Goltz Syndrome 70
Naevoid Basal Cell Carcinoma Syndrome 11
Nevoid Basal Cell Cancer Syndrome 24

Characteristics:

Orphanet epidemiological data:

54
basal cell nevus syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy

HPO:

64
basal cell nevus syndrome:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: variable expressivity

GeneReviews:

23
Penetrance: although nbccs shows intra- and interfamilial variation in expression, experience clinically and from molecular testing is compatible with complete penetrance [author, personal observation]. a previous report of reduced penetrance in a family with medulloblastoma based on ptch1 linkage analysis was refuted when the family was shown to have an sufu pathogenic variant. [smith et al 2014]. the penetrance of sufu pathogenic variants is more difficult to determine, but is likely to be reduced...


Classifications:



External Ids:

OMIM52 109400
Disease Ontology11 DOID:2512
MeSH39 D001478
NCIt45 C2892
Orphanet54 ORPHA377
UMLS via Orphanet69 C0004779
ICD10 via Orphanet31 Q87.8
MedGen37 C0004779

Summaries for Basal Cell Nevus Syndrome

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NIH Rare Diseases:48 Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tumors called keratocystic odontogenic tumors. Other tumors that may occur include medulloblastomas, and fibromas in the heart or ovaries. Additional features in people with NBCCS may include skin pits on the hands and feet; large head size (macrocephaly); and/or bone abnormalities of the spine, ribs, or skull. NBCCS is inherited in an autosomal dominant manner and is caused by mutations in the PTCH1 gene. Last updated: 7/16/2014

MalaCards based summary: Basal Cell Nevus Syndrome, also known as nevoid basal cell carcinoma syndrome, is related to basal cell carcinoma 1 and medulloblastoma, and has symptoms including melanocytic nevus, osteolysis and neoplasm of the skin. An important gene associated with Basal Cell Nevus Syndrome is PTCH1 (Patched 1), and among its related pathways are Glypican 3 network and Axon guidance. Affiliated tissues include skin, bone and ovary, and related mouse phenotypes are shRNA abundance <= 50% and hearing/vestibular/ear.

Genetics Home Reference:25 Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors.

UniProtKB/Swiss-Prot:70 Basal cell nevus syndrome: An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas.

Wikipedia:71 Nevoid basal-cell carcinoma syndrome (NBCCS), also known as basal-cell nevus syndrome, multiple... more...

Description from OMIM:52 109400

GeneReviews for NBK1151

Related Diseases for Basal Cell Nevus Syndrome

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Diseases related to Basal Cell Nevus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1basal cell carcinoma 131.8PTCH1, PTCH2, SMO
2medulloblastoma29.1GLI1, PTCH1, PTCH2, SHH, SMO, SUFU
3meier-gorlin syndrome 112.3
4meier-gorlin syndrome 312.2
5meier-gorlin syndrome 212.1
6meier-gorlin syndrome 412.1
7meier-gorlin syndrome 512.1
8meier-gorlin syndrome 612.0
9lopes gorlin syndrome11.8
10focal dermal hypoplasia11.5
11hypertelorism, microtia, facial clefting syndrome11.1
12brainstem intraparenchymal clear cell meningioma10.5PTCH1, SUFU
13metatypical basal cell carcinoma10.4PTCH1, SUFU
14homocysteinemia10.4GLI2, PTCH1
15camera marugo cohen syndrome10.4GLI2, PTCH1
16brachydactyly, type a110.3PTCH1, SHH
17basal cell carcinoma10.3
18large intestine lipoma10.3PTCH1, SUFU
19pneumonia10.3GLI1, SHH
20nodular medulloblastoma10.2GLI2, PTCH1, SUFU
21kummell's disease10.0GLI1, SHH
22dysautonomia, familial10.0GLI1, GLI2, SHH
23papillary thymic adenocarcinoma10.0PTCH1, PTCH2
24melanotic medulloblastoma10.0GLI1, PTCH1, SHH, SUFU
25stenosis of lacrimal sac10.0GLI1, PTCH1, SHH, SUFU
26pelizaeus-merzbacher disease in female carriers9.9GAS1, GLI2, PTCH1, SHH
27colonic pseudo-obstruction9.9GLI1, GLI2, PTCH1, SUFU
28x-linked dominant intellectual disability-epilepsy syndrome9.9GAS1, GLI2, PTCH1, SHH
29x-linked intellectual disability, golabi-ito-hall type9.9GAS1, GLI2, PTCH1, SHH
30x-linked intellectual disability, porteous type9.9GAS1, GLI2, PTCH1, SHH
31homocystinuria without methylmalonic aciduria9.9GAS1, GLI2, PTCH1, SHH
32microphthalmia with coloboma 59.9GAS1, GLI2, PTCH1, SHH
33pallister-hall syndrome9.9GLI2, KIF7
34major affective disorder 19.9SHH, SULT2B1
35dysplastic nevus syndrome9.9
36hydrocephalus9.9GAS1, GLI2, PTCH1, SHH
37heavy chain disease9.8GLI1, GLI2, PTCH1, SHH
38pseudopseudohypoparathyroidism9.7
39craniosynostosis9.7
40brachydactyly9.7
41endometrial adenocarcinoma9.7
42adenocarcinoma9.7
43pseudohypoparathyroidism9.7
44infundibulocystic basal cell carcinoma9.7
45ganglioglioma9.7
46cholesteatoma9.7
47meningitis9.7
48basaloid follicular hamartoma9.7
49keratocystic odontogenic tumor9.7
50antidepressant or antipsychotic toxicity or dose selection9.7GLI1, PTCH1, SHH, SMO, SUFU

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

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Symptoms by clinical synopsis from OMIM:

109400

Clinical features from OMIM:

109400

Human phenotypes related to Basal Cell Nevus Syndrome:

 64 54 (show all 98)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 melanocytic nevus64 54 hallmark (90%) Very frequent (99-80%) HP:0000995
2 osteolysis64 hallmark (90%) HP:0002797
3 neoplasm of the skin64 hallmark (90%) HP:0008069
4 sacrococcygeal pilonidal abnormality64 hallmark (90%) HP:0010767
5 bone cyst64 hallmark (90%) HP:0012062
6 skin ulcer64 hallmark (90%) HP:0200042
7 polycystic ovaries64 typical (50%) HP:0000147
8 macrocephaly64 typical (50%) HP:0000256
9 wide nasal bridge64 54 typical (50%) Frequent (79-30%) HP:0000431
10 abnormality of the neck64 54 typical (50%) Frequent (79-30%) HP:0000464
11 palmoplantar keratoderma64 typical (50%) HP:0000982
12 brachydactyly syndrome64 54 typical (50%) Frequent (79-30%) HP:0001156
13 frontal bossing64 54 typical (50%) Occasional (29-5%) HP:0002007
14 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
15 spina bifida occulta64 typical (50%) HP:0003298
16 abnormal form of the vertebral bodies64 typical (50%) HP:0003312
17 intestinal polyposis64 typical (50%) HP:0200008
18 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
19 tall stature64 occasional (7.5%) HP:0000098
20 renal cyst64 occasional (7.5%) HP:0000107
21 oral cleft64 occasional (7.5%) HP:0000202
22 hydrocephalus64 54 occasional (7.5%) Occasional (29-5%) HP:0000238
23 epicanthus64 54 occasional (7.5%) Occasional (29-5%) HP:0000286
24 mandibular prognathia64 54 occasional (7.5%) Occasional (29-5%) HP:0000303
25 hypertelorism64 54 occasional (7.5%) Occasional (29-5%) HP:0000316
26 conductive hearing impairment64 occasional (7.5%) HP:0000405
27 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
28 glaucoma64 54 occasional (7.5%) Occasional (29-5%) HP:0000501
29 visual impairment64 occasional (7.5%) HP:0000505
30 telecanthus64 54 occasional (7.5%) Occasional (29-5%) HP:0000506
31 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
32 proptosis64 occasional (7.5%) HP:0000520
33 optic nerve coloboma64 occasional (7.5%) HP:0000588
34 iris coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000612
35 nystagmus64 occasional (7.5%) HP:0000639
36 carious teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0000670
37 abnormality of dental enamel64 occasional (7.5%) HP:0000682
38 gynecomastia64 occasional (7.5%) HP:0000771
39 abnormality of the ribs64 occasional (7.5%) HP:0000772
40 hand polydactyly64 occasional (7.5%) HP:0001161
41 abnormality of the metacarpal bones64 occasional (7.5%) HP:0001163
42 arachnodactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001166
43 seizures64 occasional (7.5%) HP:0001250
44 chorea64 occasional (7.5%) HP:0002072
45 abnormality of the pleura64 occasional (7.5%) HP:0002103
46 meningioma64 occasional (7.5%) HP:0002858
47 medulloblastoma64 occasional (7.5%) HP:0002885
48 vertebral segmentation defect64 occasional (7.5%) HP:0003422
49 abnormality of the sense of smell64 54 occasional (7.5%) Occasional (29-5%) HP:0004408
50 abnormality of the carotid arteries64 occasional (7.5%) HP:0005344
51 finger syndactyly64 occasional (7.5%) HP:0006101
52 aplasia/hypoplasia of the corpus callosum64 occasional (7.5%) HP:0007370
53 aplasia/hypoplasia affecting the eye64 occasional (7.5%) HP:0008056
54 glioma64 occasional (7.5%) HP:0009733
55 sarcoma64 occasional (7.5%) HP:0100242
56 cognitive impairment64 occasional (7.5%) HP:0100543
57 neoplasm of the heart64 occasional (7.5%) HP:0100544
58 ovarian neoplasm64 occasional (7.5%) HP:0100615
59 bronchogenic cyst64 occasional (7.5%) HP:0100730
60 intellectual disability64 54 rare (5%) Occasional (29-5%) HP:0001249
61 cleft palate64 HP:0000175
62 cleft upper lip64 HP:0000204
63 parietal bossing64 HP:0000242
64 coarse facial features64 HP:0000280
65 microphthalmia64 HP:0000568
66 abnormality of the sternum64 HP:0000766
67 short ribs64 HP:0000773
68 bifid ribs64 HP:0000892
69 sprengel anomaly64 HP:0000912
70 milia64 HP:0001056
71 orbital cyst64 HP:0001144
72 motor delay64 HP:0001270
73 spina bifida64 HP:0002414
74 basal cell carcinoma64 HP:0002671
75 kyphoscoliosis64 HP:0002751
76 hemivertebrae64 54 Occasional (29-5%) HP:0002937
77 vertebral fusion64 54 Frequent (79-30%) HP:0002948
78 irregular ossification of hand bones64 HP:0004280
79 hamartomatous stomach polyps64 HP:0004795
80 bridged sella turcica64 HP:0005449
81 calcification of falx cerebri64 HP:0005462
82 supernumerary ribs64 HP:0005815
83 vertebral wedging64 54 Frequent (79-30%) HP:0008422
84 short distal phalanx of the thumb64 HP:0009650
85 cardiac rhabdomyoma64 HP:0009729
86 short 4th metacarpal64 HP:0010044
87 polydactyly64 HP:0010442
88 odontogenic keratocysts of the jaw64 HP:0010603
89 skin tags64 HP:0010609
90 palmar pits64 54 Very frequent (99-80%) HP:0010610
91 plantar pits64 54 Very frequent (99-80%) HP:0010612
92 cardiac fibroma64 HP:0010617
93 ovarian fibroma64 HP:0010618
94 down-sloping shoulders64 HP:0200021
95 hypogonadotrophic hypogonadism54 Occasional (29-5%)
96 brachycephaly54 Occasional (29-5%)
97 cerebral calcification54 Very frequent (99-80%)
98 neoplasm54 Very frequent (99-80%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00343-S6.4GLI1, GLI2, PTCH2, ROR2, SAP18, SHH

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

41 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4GAS1, GLI2, ROR2, SHH, SMO
2MP:00020068.9GLI1, PTCH1, PTCH2, SHH, SUFU, TGFBR1
3MP:00030128.6GLI1, GLI2, KIF7, PTCH1, SHH, SUFU
4MP:00053898.3GLI1, GLI2, KIF7, PTCH1, PTCH2, ROR2
5MP:00053698.2GLI2, KIF7, PTCH1, PTCH2, SHH, SMO
6MP:00028738.0GLI1, GLI2, PTCH1, PTCH2, SHH, SMO
7MP:00053917.9GAS1, GLI2, KIF7, PTCH1, ROR2, SHH
8MP:00053717.7GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
9MP:00053827.6GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
10MP:00053907.5GAS1, GLI2, KIF7, PTCH1, ROR2, SHH
11MP:00053847.4GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
12MP:00053807.3GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
13MP:00053857.3GAS1, KIF7, PTCH1, PTCH2, ROR2, SHH
14MP:00053887.2GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
15MP:00107687.0GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
16MP:00053787.0GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
17MP:00036316.7GAS1, GLI1, GLI2, KIF7, PTCH1, PTCH2
18MP:00053816.6GLI1, GLI2, KIF7, PTCH1, PTCH2, ROR2
19MP:00053766.4GAS1, GLI2, KIF7, PTCH1, ROR2, SHH

Drugs & Therapeutics for Basal Cell Nevus Syndrome

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

(show top 50)    (show all 51)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Verteporfinapproved, investigationalPhase 387129497-78-5
Synonyms:
Verteporfin
 
Verteporfina
Verteporfinum
Vertéporfine
2Dermatologic AgentsPhase 3, Phase 25674
3Photosensitizing AgentsPhase 3, Phase 2476
4
Celecoxibapproved, investigationalPhase 2435169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
5
Miconazoleapproved, investigational, vet_approvedPhase 2, Phase 1362422916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
6
Tazaroteneapproved, investigationalPhase 240118292-40-35381
Synonyms:
118292-40-3
3-Pyridinecarboxylic acid, 6-((3,4-dihydro-4,4-dimethyl-2H-1-benzothiopyran-6-yl)ethynyl)-, ethyl ester
3-Pyridinecarboxylic acid, 6-((3,4-dihydro-4,4-dimethyl-2H-1-benzothiopyran-6-yl)ethynyl)-,ethyl ester
AC-755
AC1L1K88
AGN 190168
AGN-190168
Avage
Avage (TN)
BIDD:GT0293
C086827
C12531
C21H21NO2S
CHEBI:32184
CHEMBL1657
CID5381
D01132
DB00799
Ethyl 6-((4,4-dimethylthiochroman-6-yl)ethynyl)nicotinate
I14-1992
LS-130838
 
MolPort-005-932-693
NCGC00167525-01
S1569_Selleck
S1684_Selleck
Suretin
Tazarotene
Tazarotene (JAN/USAN/INN)
Tazarotene [USAN:INN]
Tazaroteno
Tazarotenum
Tazorac
Tazorac, Avage, Zora, Tazarotene
Tazoral
UNII-81BDR9Y8PS
ZINC01542199
Zorac
ethyl 6-(2-(4,4-dimethylthiochroman-6-yl)ethynyl)nicotinate
ethyl 6-[(4,4-dimethyl-3,4-dihydro-2H-thiochromen-6-yl)ethynyl]nicotinate
ethyl 6-[2-(4,4-dimethyl-2,3-dihydrothiochromen-6-yl)ethynyl]pyridine-3-carboxylate
tazarotene
tazaroteno
tazarotenum
7
Aminolevulinic acidapprovedPhase 2157106-60-5137
Synonyms:
106-60-5
35BEC718-C970-426A-9859-BF58284C60B4
5-ALA
5-Amino-4-oxo-Pentanoate
5-Amino-4-oxo-Pentanoic acid
5-Amino-4-oxopentanoate
5-Amino-4-oxopentanoic acid
5-Amino-4-oxovalerate
5-Amino-4-oxovaleric acid
5-Amino-Levulinate
5-Amino-Levulinic acid
5-Aminolaevulinate
5-Aminolaevulinic acid
5-Aminolevulinate
5-Aminolevulinic acid
5-amino-levulinate
5451-09-2
AC-054
AC1L18K9
AKOS003587520
ALA
ALA-PDT
Aladerm
Amino-levulinic acid
Aminolevulinate
Aminolevulinic
Aminolevulinic acid
BIDD:GT0260
BSPBio_003407
C00430
CCRIS 8958
CHEBI:17549
CHEMBL601
CID137
CPD000857229
 
D07567
DALA
DB00855
DivK1c_006954
EINECS 203-414-1
I14-10101
KBio1_001898
KBio2_002062
KBio2_004630
KBio2_007198
KBio3_002627
KBioGR_001176
KBioSS_002062
Kerastick
LMFA01100055
LS-101793
Levulinic acid, 5-amino- (8CI)
MLS001333097
MLS001333098
MolPort-001-788-423
NCGC00178086-01
Pentanoic acid, 5-amino-4-oxo- (9CI)
SAM002589919
SMR000857229
SPBio_001843
ST50819610
SpecPlus_000858
Spectrum2_001662
Spectrum3_001654
Spectrum4_000618
Spectrum5_001505
Spectrum_001582
UNII-88755TAZ87
delta-ALA
delta-Aminolevulinate
delta-Aminolevulinic acid
delta-aminolevulinic acid
8
Itraconazoleapproved, investigationalPhase 214784625-61-655283
Synonyms:
(+-)-1-sec-Butyl-4-(p-(4-(p-(((2R*,4S*)-2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)-1-piperazinyl)phenyl)-delta(sup 2)-1,2,4-triazolin-5-one
(+/-)-1-[( R *)- sec -butyl]-4-[ p -[4-[ p -[[(2 R *,4 S *)-2-(2,4-dichlorophenyl)-2-(1 H -1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-(DELTA) 2 1,2,4-triazolin-5-one mixture with (+/-)-1-[( R *)- sec -butyl]-4-[ p -[4- [ p -[[(2 S *,4 R *)-2-(2,4-dichlorophenyl)-2-(1 H -1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl] phenyl]-(DELTA) 2 -1,2,4-triazolin-5-one
(1)-cis-4-(4-(4-(4-((2-(2,4-Dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)piperazin-1-yl)phenyl)-2,4-dihydro-2-sec-butyl-3H-1,2,4-triazol-3-one
2-(butan-2-yl)-4-{4-[4-(4-{[(2R,4S)-2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazin-1-yl]phenyl}-2,4-dihydro-3H-1,2,4-triazol-3-one
2-butan-2-yl-4-[4-[4-[4-[[(2R,4S)-2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]phenyl]-1,2,4-triazol-3-one
2-butan-2-yl-4-[4-[4-[4-[[(2S,4R)-2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]phenyl]-1,2,4-triazol-3-one
2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]phenyl]-1,2,4-triazol-3-one
3H-1,2,4-Triazol-3-one, 4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-pipera-zinyl]phenyl]-2,4-dihydro-2-(1-methylpropyl)
4-(4-{4-[4-({[(2R,4S)-2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methyl}oxy)phenyl]piperazin-1-yl}phenyl)-2-(1-methylpropyl)-2,4-dihydro-3H-1,2,4-triazol-3-one
84604-65-9
84625-61-6
AC-542
AC1L1GQ5
AC1L1IRU
AC1OCEL7
AC1Q6EZ3
AKOS000280875
Ambap84625-61-6
BIDD:GT0796
BRN 6042047
C35H38Cl2N8O4
CHEBI:6076
CHEMBL22587
CHEMBL882
CID3793
CID55283
CID6917738
CID9961741
CPD000058959
Canadiol
D00350
DB01167
EINECS 283-347-2
FT-0082511
HMS2051K14
HMS2090M20
Hyphanox
I01-1043
I0732
ITC
ITCZ
ITZ
Intraconazole
 
Itraconazol
Itraconazol [Spanish]
Itraconazole
Itraconazole & Bovine Lactoferrin
Itraconazole & Nyotran
Itraconazole & Nyotran(Liposomal Nystatin)
Itraconazole (JAN/USAN)
Itraconazole [USAN:BAN:INN:JAN]
Itraconazole oral solution
Itraconazolum
Itraconazolum [Latin]
Itrizole
Itrizole (TN)
Itrizole (tn)
LS-1843
MLS000028582
MLS000759472
MLS000863291
MLS001148245
MolPort-000-883-864
MolPort-003-848-295
NCGC00089812-03
Oriconazole
Oriconazole, R51211, Sporanox
Orungal
Prokanazol
R 51211
R-51211
S2476_Selleck
SAM001246679
SMR000058959
Sempera
Spherazole
Sporal
Sporanos
Sporanox
Sporanox (TN)
Sporanox (tn)
Sporonox
TL8005525
Triasporn
UNII-304NUG5GF4
cis-Itraconazole
itraconazole
9
Folic Acidapproved, nutraceutical, vet_approvedPhase 2427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
10
Niacinapproved, investigational, nutraceuticalPhase 290659-67-6938
Synonyms:
3-Carboxylpyridine
3-Carboxypyridine
3-Pyridinecarboxylate
3-Pyridinecarboxylic acid
3-Pyridylcarboxylate
3-Pyridylcarboxylic acid
3-carboxypyridine
Acide Nicotinique
Acido nicotinico
Acidum Nicotinicum
Akotin
Anti-pellagra vitamin
Apelagrin
Daskil
Efacin
Enduracin
Linic
M-Pyridinecarboxylic Acid
Niac
Niacin
Niacine
Niacor
Nicacid
Nicamin
Nicangin
 
Nico-Span
Nicobid
Nicocap
Nicodelmine
Nicolar
Niconacid
Nicosan 3
Nicotinate
Nicotinic Acid
Nicotinic acid
Nicotinipca
Nicyl
Nikotinsaeure
Nyclin
P.P. factor
PP Factor
Pellagra preventive factor
Pellagrin
Pelonin
Pyridine-beta-carboxylic acid
Slo-niacin
Vitamin B3
Wampocap
beta-Pyridinecarboxylic acid
pyridine-β-carboxylic acid
β-pyridinecarboxylic acid
11
Nicotinamideapproved, NutraceuticalPhase 290298-92-0936
Synonyms:
.beta.-Pyridinecarboxamide
11032-50-1
123574-63-0
1yc5
3 Pyridinecarboxamide
3-Carbamoylpyridine
3-Pyridinecarboxamide
3-Pyridinecarboxylic acid amide
37321-14-5
47865U_SUPELCO
55600-01-6
63748-44-7
72340_FLUKA
72340_SIGMA
72347_FLUKA
78731-47-2
98-92-0
A186B02E-6C70-4E54-9739-79398D439AAA
AC-907/25014114
AC1L1ACZ
AC1Q4ZFV
AI3-02906
Acid amide
Amid kyseliny nikotinove
Amid kyseliny nikotinove [Czech]
Amide PP
Aminicotin
Amixicotyn
Amnicotin
Astra Brand of Niacinamide
Austrovit PP
B 3, Vitamin
B3, Vitamin
BB_NC-2290
Benicot
C00153
C6H6N2O
CCRIS 1901
CHEBI:17154
CHEMBL1140
CID936
CPD000058212
D00036
D009536
DB02701
DEA No. 1405
Delonin Amide
Delonin amide
Dipegyl
Dipigyl
EINECS 202-713-4
EINECS 234-265-0
Endobion
Enduramide
Factor pp
HMS2052M21
HMS2090B05
HMS2093H03
HSDB 1237
Hansamid
I02-1741
I02-2250
InChI=1/C6H6N2O/c7-6(9)5-2-1-3-8-4-5/h1-4H,(H2,7,9
Inovitan PP
Jenapharm Brand of Niacinamide
Jenapharm, Nicotinsaureamid
LS-2051
MLS000069714
Mediatric
Merck Brand of Niacinamide
MolMap_000061
MolPort-001-783-876
N0078
N0636_SIGMA
N2142_SIGMA
N3376_SIGMA
N5535_SIAL
NAM
NCGC00093354-03
NCGC00093354-04
NSC 13128
NSC13128
NSC27452
Nandervit-N
Niacevit
Niacinamide
Niacinamide (USP)
Niacinamide Astra Brand
Niacinamide Jenapharm Brand
Niacinamide Merck Brand
 
Niacinamide Pharmagenix Brand
Niacinamide [USAN]
Niacinamide, Nicotinic acid amide, Nicotinamide
Niacotinamide
Niamide
Niavit PP
Nicamide
Nicamina
Nicamindon
Nicasir
Nicobion
Nicofort
Nicogen
Nicomidol
Nicosan 2
Nicosylamide
Nicota
Nicotamide
Nicotilamide
Nicotililamido
Nicotinamid
Nicotinamida
Nicotinamida [INN-Spanish]
Nicotinamide
Nicotinamide (JP15/INN)
Nicotinamide (Niacinamide)
Nicotinamide, niacin, vitamin B3
Nicotinamide-carbonyl-14C
Nicotinamidum
Nicotinamidum [INN-Latin]
Nicotine acid amide
Nicotine amide
Nicotinic acid amide
Nicotinic amide
Nicotinsaeureamid
Nicotinsaureamid
Nicotinsaureamid Jenapharm
Nicotinsaureamid [German]
Nicotol
Nicotylamide
Nicotylamidum
Nicovel
Nicovit
Nicovitina
Nicovitol
Nicozymin
Nictoamide
Nikasan
Nikazan
Niko-tamin
Nikotinamid
Nikotinsaeureamid
Nikotinsaeureamid [German]
Niocinamide
Niozymin
PP-Faktor
Papulex
Pelmin
Pelmine
Pelonin amide
Pharmagenix Brand of Niacinamide
Propamine A
Pyridine-3-carboxylic acid amide
S1899_Selleck
SAM001246860
SGCUT00176
SMR000058212
Savacotyl
UNII-25X51I8RD4
Vi-Nicotyl
Vi-noctyl
Vitamin B
Vitamin B (VAN)
Vitamin B 3
Vitamin B3 amide
Vitamin H1
Vitamin PP
WLN: T6NJ CVZ
Witamina PP
ZINC00005878
b-Pyridinecarboxamide
beta-Pyridinecarboxamide
bmse000281
m-(Aminocarbonyl)pyridine
nchembio.154-comp4
nchembio.73-comp6
niacin - Vitamin B3
niacinamide
nicotinamide
pyridine-3-carboxamide
to_000073
vitamin PP
12Cyclooxygenase 2 InhibitorsPhase 2616
13Keratolytic AgentsPhase 2420
14Antirheumatic AgentsPhase 210627
15Cyclooxygenase InhibitorsPhase 22778
16Pharmaceutical SolutionsPhase 27793
17Antifungal AgentsPhase 2, Phase 13615
18Anti-Inflammatory Agents, Non-SteroidalPhase 24295
19Peripheral Nervous System AgentsPhase 222776
20Anti-Infective AgentsPhase 2, Phase 121402
21Trace ElementsPhase 25802
22MicronutrientsPhase 25802
23Anti-Inflammatory AgentsPhase 210355
24Vitamin B ComplexPhase 24229
25Nicotinic AcidsPhase 2906
26Analgesics, Non-NarcoticPhase 26260
27VitaminsPhase 25095
28AnalgesicsPhase 211287
29HydroxyitraconazolePhase 2147
30interferonsPhase 1, Phase 22137
31Interferon-gammaPhase 1, Phase 2145
32Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 212767
33Steroid Synthesis InhibitorsPhase 21718
34HormonesPhase 213979
35Cytochrome P-450 CYP3A InhibitorsPhase 21666
36Cytochrome P-450 Enzyme InhibitorsPhase 23822
37Hormone AntagonistsPhase 212778
38Vitamin B9NutraceuticalPhase 24279
39Vitamin B3NutraceuticalPhase 2906
40FolateNutraceuticalPhase 24279
41
EverolimusapprovedPhase 11896159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
42
Sirolimusapproved, investigationalPhase 1189653123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
43Immunosuppressive AgentsPhase 112770
44Antibiotics, AntitubercularPhase 16972
45Anti-Bacterial AgentsPhase 110884
46
Acitretinapproved3055079-83-96437841, 5284513
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-[2,3,6-trimethyl-4-(methyloxy)phenyl]nona-2,4,6,8-tetraenoic acid
(2E,4E,6E,8E)-9-(4-methoxy-2,3,6-trimethylphenyl)-3,7-dimethylnona-2,4,6,8-tetraenoic acid
(all-E)-9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethyl-2,4,6,8-nonatetraenoic acid
(all-e)-9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethyl-2,4,6,8-nonatetraenoic acid
13-cis-Acitretin
44707_FLUKA
44707_SIGMA
54757-46-9
55079-83-9
9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethyl-2,4,6,8-nonatetraenoic acid
9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethylnona-2,4,6,8-tetraenoic acid
AC-4702
AC1NR4LJ
AC1Q5T6I
Acetretin
Acitretin
Acitretin (USAN/INN)
Acitretin [USAN:INN:BAN]
Acitretina
Acitretina [Spanish]
Acitretine
Acitretine [French]
Acitretinum
Acitretinum [Latin]
BIDD:GT0617
Bio-0002
CCRIS 5534
CHEBI:50173
CHEMBL1131
CID5284513
CPD000499573
 
D02754
EINECS 259-474-4
Etretin
FT-0082892
HSDB 7187
Isoacitretin
Isoetretin
LS-96920
MLS001076667
MolPort-003-925-892
NCGC00163127-01
NCGC00163127-02
Neotigason
Retinoid etretin
Ro 10-1670
Ro 10-1670/000
Ro 13-7652
Ro-10-1670
Ro-10-1670/000
Ro-13-7652
S1368_Selleck
SAM002589973
SBB064171
SMR000499573
Soriatane
Soriatane (TN)
Soriatane, Acitretin
Spectrum5_002065
TMMP
U0279
UNII-LCH760E9T7
all-trans-3,7-Dimethyl-9-(4-methoxy-2,3,6-trimethylphenyl)-2,4,6,8-nonatetraenoic acid
all-trans-Acitretin
47
Isotretinoinapproved1184759-48-25538, 5282379
Synonyms:
(13-cis)-Retinoate
(13-cis)-Retinoic acid
(13cis)-retinoic acid
(2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenoic acid
(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid
(7E,9E,11E,13Z)-retinoic acid
(7e,9e,11e,13Z)-Retinoic acid
13 Cis-Retinoic Acid
13 cis retinoic acid
13-RA
13-cis RA
13-cis retinoic acid
13-cis-Retinoate
13-cis-Retinoic acid
13-cis-Vitamin A acid
13-cis-Vitamin a acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)2-cis-4-trans-6-trans-8-trans-nonatetraenoic acid
4-09-00-02388 (Beilstein Handbook Reference)
4759-48-2
97950-17-9
AC-15388
AC1NQZZ4
Accutane
Accutane (TN)
Ambap302-79-4
Amnesteem
BML2-E07
BPBio1_000080
BRD-K76723084-001-05-9
BRN 1885770
BSPBio_000072
BSPBio_001331
BSPBio_003345
CCRIS 4286
CHEBI:6067
CHEMBL547
CID5282379
CIP-Isotretinoin
CPD000471891
Claravis
D00348
D015474
EINECS 225-296-0
EU-0101081
HMS1361C13
HMS1568D14
HMS1791C13
HMS1921D08
HMS1989C13
HMS2092N07
HSDB 3929
IDI1_033801
Isotane
Isotretinoin
Isotretinoin (USP)
Isotretinoin Retinoic acid
 
Isotretinoin Zinc Salt, 13 cis Isomer
Isotretinoin Zinc Salt, 13-cis-Isomer
Isotretinoin [USAN:BAN:INN]
Isotretinoin [USAN:INN:BAN]
Isotretinoina
Isotretinoine
Isotretinoine [INN-French]
Isotretinoino
Isotretinoino [INN-Spanish]
Isotretinoinum
Isotretinoinum [INN-Latin]
Isotrex
LMPR01090021
LS-143465
Lopac0_001081
MLS001074662
MolPort-003-666-394
NCGC00094358-01
NCGC00094358-02
NCGC00094358-03
NCGC00094358-04
NCGC00094358-05
NCGC00094358-06
NCGC00094358-07
NCGC00094358-08
NCGC00094358-09
NCGC00094358-13
Neovitamin A acid
Neovitamin a acid
Prestwick2_000256
Prestwick3_000256
Prestwick_642
R 3255
R3255_SIGMA
Retinoate
Retinoic acid
Ro 4 3780
Ro 4-3780
Ro 43780
Ro-4-3780
Ro-43780
Roaccutan
Roaccutane
Roacutan
SAM002548955
SMR000471891
SPECTRUM1502013
Sotret
Sotret (TN)
Spectrum5_001795
Spectrum5_001937
Teriosal
UNII-EH28UP18IF
cis-RA
cis-Retinoate
cis-Retinoic acid
isotretinoino
48Sunscreening Agents113
49Radiation-Protective Agents466
50Protective Agents7190

Interventional clinical trials:

(show all 28)
idNameStatusNCT IDPhase
1Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin.TerminatedNCT00049959Phase 3
2Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Chest and BackCompletedNCT00783965Phase 2
3Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the FaceCompletedNCT00489086Phase 2
4To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS)CompletedNCT00957229Phase 2
5Celecoxib in Preventing Basal Cell Carcinoma in Patients With Basal Cell Nevus SyndromeCompletedNCT00023621Phase 2
6Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell CarcinomasCompletedNCT01556009Phase 2
7A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
8Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS)CompletedNCT01350115Phase 2
9Open-label Trial of SUBA™-Itraconazole (SUBA-Cap) in Subjects With Basal Cell Carcinoma Nevus Syndrome (BCCNS)RecruitingNCT02354261Phase 2
10A Study of the Efficacy and Safety of ASN-002 in Adult Patients With Low-risk Nodular Basal Cell CarcinomaRecruitingNCT02550678Phase 1, Phase 2
11Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the Size of Sporadic Nodular Basal Cell CarcinomasRecruitingNCT02828111Phase 2
12Photodynamic Therapy Using Blue Light or Red Light in Treating Basal Cell Carcinoma in Patients With Basal Cell Nevus SyndromeActive, not recruitingNCT02258243Phase 2
13Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas (BCC) in Gorlin Syndrome PatientsActive, not recruitingNCT02762084Phase 2
14A Study of Two Vismodegib Regimens in Participants With Multiple Basal Cell CarcinomasActive, not recruitingNCT01815840Phase 2
15Topical Sirolimus in Patients With Basal Cell Nevus Syndrome and in Healthy ParticipantsCompletedNCT00433485Phase 1
16Development of a Nanosecond Pulsed Electric Field System to Treat Skin CancerCompletedNCT01463709Phase 1
17A Phase 1 Study of BMS-833923 (XL139) in Subjects With Advanced or Metastatic CancerCompletedNCT00670189Phase 1
18Photodynamic Therapy and Vismodegib for Multiple Basal Cell CarcinomasRecruitingNCT02639117Phase 1
19Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk PatientsCompletedNCT00555633
20The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive DiseasesCompletedNCT00005660
21Isotretinoin in Preventing Skin CancerCompletedNCT00025012
22A Clinical Trial of Dermacorder for Detecting Malignant Skin LesionsCompletedNCT01014819
23An Observational Study of the Effectiveness and Safety of Erivedge® in Patients With Advanced Basal Cell CarcinomaRecruitingNCT02371967
24Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus SyndromeActive, not recruitingNCT02157623
25Study of BMS-833923 in Two Specific Patients With Basal Cell Nevus SyndromeActive, not recruitingNCT02100371
26Sonidegib and Buparlisib in Treating Patients With Advanced or Metastatic Basal Cell CarcinomaActive, not recruitingNCT02303041
27An Observational Study of Treatment Patterns and Effectiveness and Safety Outcomes in Advanced Basal Cell Carcinoma and Basal Cell Carcinoma Nevus Syndrome Patients(RegiSONIC)Active, not recruitingNCT01604252
28Levocarnitine in Treating Patients With Vismodegib-Associated Muscle SpasmsActive, not recruitingNCT01893892

Search NIH Clinical Center for Basal Cell Nevus Syndrome


Cochrane evidence based reviews: basal cell nevus syndrome

Genetic Tests for Basal Cell Nevus Syndrome

About this section

Genetic tests related to Basal Cell Nevus Syndrome:

id Genetic test Affiliating Genes
1 Gorlin Syndrome27
2 Nevoid Basal Cell Carcinoma Syndrome24 PTCH1, PTCH2, SUFU

Anatomical Context for Basal Cell Nevus Syndrome

About this section

MalaCards organs/tissues related to Basal Cell Nevus Syndrome:

36
Skin, Bone, Ovary, Heart, Eye, Testes

Publications for Basal Cell Nevus Syndrome

About this section

Articles related to Basal Cell Nevus Syndrome:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
AKT1 Activation is Obligatory for Spontaneous BCC Tumor Growth in a Murine Model That Mimics Some Features of Basal Cell Nevus Syndrome. (27388747)
2016
2
Hedgehog pathway inhibitor therapy in basal-cell nevus syndrome. (27838223)
2016
3
Risk Factors for Basal Cell Carcinoma Among Patients With Basal Cell Nevus Syndrome: Development of a Basal Cell Nevus Syndrome Patient Registry. (27902821)
2016
4
BASAL CELL NEVUS SYNDROME PRESENTING AS EPIRETINAL MEMBRANE AND MYELINATED NERVE FIBER LAYER. (27533646)
2016
5
Segmental Basal cell nevus syndrome caused by an activating mutation in Smoothened. (26822128)
2016
6
Inhibition of the hedgehog pathway in patients with basal-cell nevus syndrome: final results from the multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. (27838224)
2016
7
Basal Cell Nevus Syndrome: An Update on Genetics and Treatment. (26409035)
2015
8
Basal cell nevus syndrome: clinical and molecular review and case report. (26356331)
2015
9
Basal cell nevus syndrome or Gorlin syndrome. (26564075)
2015
10
Intermittent Vismodegib Therapy in Basal Cell Nevus Syndrome. (26509945)
2015
11
Dermoscopy for Identification of Basal Cell Carcinomas in Basal Cell Nevus Syndrome During Carbon Dioxide Laser Surgery. (26572667)
2015
12
Hedgehog Pathway Inhibition for Locally Advanced Periocular Basal Cell Carcinoma and Basal Cell Nevus Syndrome. (25935097)
2015
13
Axillary basal cell carcinoma in patients with Goltz-Gorlin syndrome: report of basal cell carcinoma in both axilla of a woman with basal cell nevus syndrome and literature review. (25148279)
2014
14
The use of vismodegib to shrink keratocystic odontogenic tumors in patients with basal cell nevus syndrome. (24623282)
2014
15
Sonic hedgehog signaling in Basal cell nevus syndrome. (25172843)
2014
16
Tazarotene: randomized, double-blind, vehicle-controlled, and open-label concurrent trials for basal cell carcinoma prevention and therapy in patients with basal cell nevus syndrome. (24441673)
2014
17
Squamous cell carcinoma of the maxilla in a patient with basal cell nevus syndrome. (24621716)
2014
18
Meningeal calcification in basal cell nevus syndrome. (24287476)
2013
19
PTCH"-ing it together: a basal cell nevus syndrome review. (23725561)
2013
20
The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects. (23897749)
2013
21
Comment on basal cell carcinoma rebound after cessation of vismodegib in an individual with basal cell nevus syndrome. (23682843)
2013
22
Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome. (22670904)
2012
23
Basal cell nevus syndrome: a rare entity. (22960843)
2012
24
Retraction: Basal cell nevus syndrome showing several histologic types of basal cell carcinoma. (22577287)
2012
25
Conjunctival ganglioglioma as a feature of basal cell nevus syndrome. (21907124)
2011
26
A novel phenotype with features of basal cell nevus syndrome and basaloid follicular hamartoma syndrome. (21679799)
2011
27
Basal cell nevus syndrome showing several histologic types of Basal cell carcinoma. (22028568)
2011
28
Long-term safety, tolerability, and efficacy of vismodegib in two patients with metastatic basal cell carcinoma and basal cell nevus syndrome. (25386306)
2011
29
Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome. (20489535)
2010
30
Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. (19557015)
2009
31
Recurrent petrous apex cholesteatoma in a patient with basal cell nevus syndrome. (18722240)
2008
32
Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. (17021131)
2006
33
Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree. (16733713)
2006
34
Review of patients with basal cell nevus syndrome. (16855496)
2006
35
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. (15690381)
2005
36
Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome. (16227103)
2005
37
Basal cell nevus syndrome. (15725922)
2005
38
A plea for the analysis of Vitamin-D levels in patients under photoprotection, including patients with xeroderma pigmentosum (XP) and basal cell nevus syndrome (BCNS). (15088627)
2004
39
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. (12548386)
2003
40
Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome. (11896785)
2002
41
Novel mutations in the PATCHED gene in basal cell nevus syndrome. (12175781)
2002
42
A novel polymorphism in the PTC gene allows easy identification of allelic loss in basal cell nevus syndrome lesions. (11277394)
2001
43
A mouse model for medulloblastoma and basal cell nevus syndrome. (11718263)
2001
44
Allelic loss at the PTCH gene locus in jaw cysts but not in palmar pits in patients with basal cell nevus syndrome. (11000293)
2000
45
Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. (9620294)
1998
46
Repair of directly and indirectly UV-induced DNA lesions and of DNA double-strand breaks in cells from skin cancer-prone patients with the disorders dysplastic nevus syndrome or basal cell nevus syndrome. (8912431)
1997
47
The occurrence of endometrial adenocarcinoma in a patient with basal cell nevus syndrome. (9264223)
1997
48
Basal cell nevus syndrome and dysplastic nevus syndrome: investigation of gene expression by differential hybridization. (8818188)
1996
49
Human homolog of patched, a candidate gene for the basal cell nevus syndrome. (8658145)
1996
50
Basal cell nevus syndrome and medulloblastoma: a case report. (8060441)
1993

Variations for Basal Cell Nevus Syndrome

About this section

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

70
id Symbol AA change Variation ID SNP ID
1PTCH1p.Leu175ProVAR_007843
2PTCH1p.Phe376SerVAR_007844
3PTCH1p.Arg1114TrpVAR_007847rs587776689
4PTCH1p.Gly509ValVAR_010975
5PTCH1p.Asp513TyrVAR_010976
6PTCH1p.Gly1069ArgVAR_010979
7PTCH1p.Ser1132ProVAR_010980
8PTCH1p.Ser1132TyrVAR_010981
9PTCH1p.Glu1438AspVAR_010984
10PTCH1p.Thr230ProVAR_020845

Clinvar genetic disease variations for Basal Cell Nevus Syndrome:

5 (show all 39)
id Gene Variation Type Significance SNP ID Assembly Location
1PTCH1NM_000264.3(PTCH1): c.3947A> G (p.Tyr1316Cys)SNVLikely pathogenicrs147067171GRCh37Chr 9, 98209591: 98209591
2PTCH1NM_000264.3(PTCH1): c.3889C> T (p.Arg1297Trp)SNVLikely pathogenicrs372027952GRCh37Chr 9, 98209649: 98209649
3PTCH1NM_000264.3(PTCH1): c.395-1G> ASNVLikely pathogenicrs368869806GRCh37Chr 9, 98248157: 98248157
4PTCH1NM_000264.3(PTCH1): c.3168+2T> CSNVPathogenicrs786204056GRCh37Chr 9, 98220293: 98220293
5PTCH1NM_000264.3(PTCH1): c.343G> T (p.Gly115Ter)SNVPathogenicrs794727242GRCh37Chr 9, 98268740: 98268740
6PTCH1NM_000264.3(PTCH1): c.3449+1G> ASNVLikely pathogenicrs863224442GRCh38Chr 9, 95453477: 95453477
7PTCH1NM_000264.3(PTCH1): c.3450-2A> GSNVLikely pathogenicrs863224443GRCh37Chr 9, 98212224: 98212224
8PTCH1NM_000264.3(PTCH1): c.945+1G> ASNVPathogenicrs863224444GRCh37Chr 9, 98242671: 98242671
9PTCH1NM_000264.3(PTCH1): c.2799delG (p.Tyr934Metfs)deletionPathogenicrs863224484GRCh38Chr 9, 95459688: 95459688
10PTCH1NM_000264.3(PTCH1): c.2842_2849delTGGGTCCA (p.Trp948Argfs)deletionPathogenicrs863224485GRCh37Chr 9, 98221920: 98221927
11PTCH1NM_000264.3(PTCH1): c.612C> G (p.Tyr204Ter)SNVPathogenicrs863224486GRCh38Chr 9, 95482176: 95482176
12PTCH1NM_000264.3(PTCH1): c.666T> A (p.Tyr222Ter)SNVPathogenicrs863224487GRCh38Chr 9, 95482029: 95482029
13PTCH1NM_000264.3(PTCH1): c.1502A> G (p.Gln501Arg)SNVPathogenicrs863225054GRCh38Chr 9, 95477548: 95477548
14PTCH1NM_000264.3(PTCH1): c.1591_1601delATCCCTTTTGA (p.Ile531Glyfs)deletionPathogenicrs863225055GRCh38Chr 9, 95476760: 95476770
15PTCH1GRCh37/hg19 9q22.32(chr9: 98207091-98210940)x1copy number lossPathogenicGRCh37Chr 9, 98207091: 98210940
16subset of 12 genes:PTCH1GRCh37/hg19 9q22.32(97579146-99280739)x1copy number lossPathogenicGRCh37Chr 9, 97579146: 99280739
17PTCH1NM_000264.3(PTCH1): c.2539_2542delTACTinsAG (p.Tyr847Serfs)indelPathogenicrs863225467GRCh37Chr 9, 98229416: 98229419
18PTCH1NM_000264.3(PTCH1): c.258_259delCT (p.Leu87Ilefs)deletionPathogenicrs864622212GRCh37Chr 9, 98268824: 98268825
19PTCH1NM_000264.3(PTCH1): c.1503+1G> CSNVLikely pathogenicrs864622293GRCh38Chr 9, 95477546: 95477546
20PTCH1NM_000264.3(PTCH1): c.1329delC (p.Ser444Alafs)deletionPathogenicrs864622374GRCh38Chr 9, 95478073: 95478073
21PTCH1NM_000264.3(PTCH1): c.270_304del35 (p.Tyr93Glyfs)deletionPathogenicrs864622583GRCh37Chr 9, 98268779: 98268813
22PTCH1NM_000264.3(PTCH1): c.1615delG (p.Glu539Serfs)deletionPathogenicrs878853847GRCh37Chr 9, 98238429: 98238429
23PTCH1NM_000264.3(PTCH1): c.202-2A> GSNVLikely pathogenicrs878853849GRCh38Chr 9, 95506601: 95506601
24PTCH1NM_000264.3(PTCH1): c.2391C> A (p.Tyr797Ter)SNVPathogenicrs778260156GRCh38Chr 9, 95467285: 95467285
25PTCH1NM_000264.3(PTCH1): c.2561-2A> TSNVLikely pathogenicrs878853852GRCh37Chr 9, 98224282: 98224282
26PTCH1NM_000264.3(PTCH1): c.3394T> C (p.Ser1132Pro)SNVLikely pathogenicrs878853856GRCh38Chr 9, 95453533: 95453533
27PTCH1NM_001083602.1(PTCH1): c.1813dupC (p.His605Profs)duplicationPathogenicGRCh37Chr 9, 98231272: 98231272
28SUFUNM_016169.3(SUFU): c.1022+1G> ASNVPathogenicrs587776578GRCh37Chr 10, 104359302: 104359302
29PTCH1PTCH1, TRP129TERSNVPathogenicChr na, -1: -1
30PTCH2NM_001166292.1(PTCH2): c.2156G> A (p.Arg719Gln)SNVPathogenicrs121434397GRCh37Chr 1, 45293289: 45293289
31PTCH1PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INSinsertionPathogenicChr na, -1: -1
32PTCH1PTCH1, 11-BP DEL, NT2442deletionPathogenicChr na, -1: -1
33PTCH1NM_000264.3(PTCH1): c.1081C> T (p.Gln361Ter)SNVPathogenicrs199476090GRCh37Chr 9, 98241416: 98241416
34PTCH1PTCH1, 37-BP DEL, NT808deletionPathogenicChr na, -1: -1
35PTCH1PTCH1, 1148G-ASNVPathogenicChr na, -1: -1
36PTCH1PTCH1, 2-BP INS, 2047CTinsertionPathogenicChr na, -1: -1
37PTCH1PTCH1, 1-BP INS, 2000CinsertionPathogenicChr na, -1: -1
38PTCH1PTCH1, 1-BP DEL, 2583CdeletionPathogenicChr na, -1: -1
39PTCH1PTCH1, 1-BP INS, 1247TinsertionPathogenicChr na, -1: -1

Cosmic variations for Basal Cell Nevus Syndrome:

8 (show top 50)    (show all 224)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM144245PTCH1skin,eye,carcinoma,basal cell carcinomac.1585A>Tp.K529*26
2COSM17596PTCH1skin,hand,carcinoma,basal cell carcinomac.863G>Ap.G288D26
3COSM43583TP53skin,eye,carcinoma,basal cell carcinomac.425C>Tp.P142L26
4COSM44126TP53skin,eye,carcinoma,basal cell carcinomac.507G>Ap.M169I26
5COSM17602PTCH1skin,hand,carcinoma,basal cell carcinomac.1922C>Tp.P641L26
6COSM17597PTCH1skin,hand,carcinoma,basal cell carcinomac.1977G>Ap.Q659Q26
7COSM44130TP53skin,NS,carcinoma,basal cell carcinomac.477C>Tp.A159A25
8COSM43920TP53skin,NS,carcinoma,basal cell carcinomac.680C>Tp.S227F25
9COSM10705TP53skin,NS,carcinoma,basal cell carcinomac.586C>Tp.R196*25
10COSM10654TP53skin,NS,carcinoma,basal cell carcinomac.637C>Tp.R213*25
11COSM14464PTCH1skin,NS,carcinoma,basal cell carcinomac.1804C>Tp.R602*25
12COSM45774TP53skin,NS,carcinoma,basal cell carcinomac.899C>Gp.P300R25
13COSM29068PTCH1skin,NS,carcinoma,basal cell carcinomac.1603-1G>Ap.?25
14COSM11084TP53skin,NS,carcinoma,basal cell carcinomac.517G>Ap.V173M25
15COSM10662TP53skin,NS,carcinoma,basal cell carcinomac.743G>Ap.R248Q25
16COSM29055PTCH1skin,NS,carcinoma,basal cell carcinomac.2050G>Tp.E684*25
17COSM14440PTCH1skin,NS,carcinoma,basal cell carcinomac.1093C>Tp.Q365*25
18COSM44097TP53skin,NS,carcinoma,basal cell carcinomac.530C>Tp.P177L25
19COSM44603TP53skin,NS,carcinoma,basal cell carcinomac.835G>Ap.G279R25
20COSM29048PTCH1skin,NS,carcinoma,basal cell carcinomac.1347+1G>Ap.?25
21COSM45424TP53skin,NS,carcinoma,basal cell carcinomac.781A>Tp.S261C25
22COSM26356PTCH1skin,NS,carcinoma,basal cell carcinomac.834G>Ap.W278*25
23COSM44435TP53skin,NS,carcinoma,basal cell carcinomac.96+1G>Ap.?25
24COSM564NRASskin,NS,carcinoma,basal cell carcinomac.35G>Ap.G12D25
25COSM10659TP53skin,NS,carcinoma,basal cell carcinomac.817C>Tp.R273C25
26COSM10728TP53skin,NS,carcinoma,basal cell carcinomac.839G>Ap.R280K25
27COSM17453PTCH1skin,NS,carcinoma,basal cell carcinomac.3196G>Tp.E1066*25
28COSM1651689PTCH1skin,NS,carcinoma,basal cell carcinomac.250C>Tp.Q84*25
29COSM43837TP53skin,NS,carcinoma,basal cell carcinomac.843C>Gp.D281E25
30COSM29071PTCH1skin,NS,carcinoma,basal cell carcinomac.3549+5G>Ap.?25
31COSM10749TP53skin,NS,carcinoma,basal cell carcinomac.830G>Tp.C277F25
32COSM17592PTCH1skin,NS,carcinoma,basal cell carcinomac.3605C>Tp.P1202L25
33COSM26370PTCH1skin,NS,carcinoma,basal cell carcinomac.286A>Tp.K96*25
34COSM26363PTCH1skin,NS,carcinoma,basal cell carcinomac.2446C>Tp.Q816*25
35COSM26378PTCH1skin,NS,carcinoma,basal cell carcinomac.1848-1G>Ap.?25
36COSM144244PTCH1skin,NS,carcinoma,basal cell carcinomac.994A>Tp.R332*25
37COSM483HRASskin,NS,carcinoma,basal cell carcinomac.35G>Tp.G12V25
38COSM17600PTCH1skin,NS,carcinoma,basal cell carcinomac.2207C>Tp.A736V25
39COSM17608PTCH1skin,NS,carcinoma,basal cell carcinomac.1161G>Ap.W387*25
40COSM17547PTCH1skin,NS,carcinoma,basal cell carcinomac.1511C>Ap.P504Q25
41COSM17495PTCH1skin,NS,carcinoma,basal cell carcinomac.1229G>Ap.S410N25
42COSM45322TP53skin,NS,carcinoma,basal cell carcinomac.757A>Gp.T253A25
43COSM17473PTCH1skin,NS,carcinoma,basal cell carcinomac.2308C>Tp.R770*25
44COSM17467PTCH1skin,NS,carcinoma,basal cell carcinomac.1726C>Tp.Q576*25
45COSM10995TP53skin,NS,carcinoma,basal cell carcinomac.580C>Tp.L194F25
46COSM17598PTCH1skin,NS,carcinoma,basal cell carcinomac.550C>Tp.Q184*25
47COSM43582TP53skin,NS,carcinoma,basal cell carcinomac.454C>Tp.P152S25
48COSM10656TP53skin,NS,carcinoma,basal cell carcinomac.742C>Tp.R248W25
49COSM17490PTCH1skin,NS,carcinoma,basal cell carcinomac.3584C>Tp.T1195I25
50COSM216037SMOskin,NS,carcinoma,basal cell carcinomac.1234C>Tp.L412F25

Copy number variations for Basal Cell Nevus Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1256420993000000101600000Copy numberPTCHBasal cell nevus syndrome

Expression for genes affiliated with Basal Cell Nevus Syndrome

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

Pathways for genes affiliated with Basal Cell Nevus Syndrome

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

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.9PTCH1, SHH
29.5PTCH1, SHH, SMO
3
Show member pathways
9.3PTCH1, PTCH2, SHH, SMO
48.8GLI1, GLI2, PTCH1, SHH, SMO
5
Show member pathways
8.6GLI1, GLI2, PTCH1, PTCH2, SMO, SUFU
6
Show member pathways
8.6GAS1, GLI2, PTCH1, PTCH2, SHH, SMO
78.2GLI1, GLI2, PTCH1, PTCH2, SHH, SUFU
8
Show member pathways
8.0GAS1, GLI1, PTCH1, PTCH2, ROR2, SMO
9
Show member pathways
8.0GAS1, GLI1, PTCH1, PTCH2, ROR2, SMO
107.8GLI1, GLI2, PTCH1, PTCH2, SHH, SMO
11
Show member pathways
7.6GAS1, GLI1, GLI2, KIF7, PTCH1, SHH
12
Show member pathways
7.4GAS1, GLI1, GLI2, PTCH1, PTCH2, SAP18
13
Show member pathways
6.6GAS1, GLI1, GLI2, KIF7, PTCH1, PTCH2

GO Terms for genes affiliated with Basal Cell Nevus Syndrome

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Cellular components related to Basal Cell Nevus Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ciliary baseGO:009754610.1GLI1, GLI2, SUFU
2ciliary tipGO:00975429.1GLI1, GLI2, KIF7, SMO, SUFU
3ciliumGO:00059298.5GLI1, GLI2, KIF7, SMO, SUFU

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

(show top 50)    (show all 69)
idNameGO IDScoreTop Affiliating Genes
1cell fate determinationGO:000170910.8PTCH1, PTCH2
2epidermal cell fate specificationGO:000995710.7PTCH1, PTCH2
3positive regulation of epidermal cell differentiationGO:004560610.7PTCH1, PTCH2
4cellular response to cholesterolGO:007139710.6PTCH1, SMO
5mammary gland epithelial cell differentiationGO:006064410.6PTCH1, SMO
6mammary gland developmentGO:003087910.6GLI2, PTCH1
7mammary gland duct morphogenesisGO:006060310.6GLI2, PTCH1
8digestive tract morphogenesisGO:004854610.6GLI1, SHH
9cell fate specificationGO:000170810.6SHH, SMO
10determination of left/right asymmetry in lateral mesodermGO:000314010.6SHH, SMO
11epithelial-mesenchymal cell signalingGO:006068410.6SHH, SMO
12hair follicle morphogenesisGO:003106910.6SHH, SMO
13anatomical structure developmentGO:004885610.5GLI2, SHH
14anatomical structure formation involved in morphogenesisGO:004864610.5GLI2, SHH
15branching morphogenesis of an epithelial tubeGO:004875410.5GLI2, SHH
16hindbrain developmentGO:003090210.5GLI2, SHH
17hindgut morphogenesisGO:000744210.5GLI2, SHH
18pharyngeal system developmentGO:006003710.5PTCH1, TGFBR1
19positive regulation of hh target transcription factor activityGO:000722810.5SHH, SMO
20positive regulation of mesenchymal cell proliferationGO:000205310.5SHH, SMO
21positive regulation of neuroblast proliferationGO:000205210.5SHH, SMO
22positive regulation of protein import into nucleusGO:004230710.5SHH, SMO
23osteoblast developmentGO:000207610.5GLI2, SHH
24notochord regressionGO:006003210.5GLI1, GLI2
25positive regulation of T cell differentiation in thymusGO:003308910.5GLI2, SHH
26pituitary gland developmentGO:002198310.5GLI1, GLI2
27protein localization to nucleusGO:003450410.4SHH, SMO
28neuron fate commitmentGO:004866310.4SHH, TGFBR1
29proximal/distal pattern formationGO:000995410.4GLI1, GLI2
30negative regulation of chondrocyte differentiationGO:003233110.4GLI2, TGFBR1
31cell fate commitmentGO:004516510.4GAS1, ROR2, SHH
32embryonic organ developmentGO:004856810.3PTCH1, SHH, SMO
33determination of left/right symmetryGO:000736810.3SHH, SMO, SUFU
34smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:006083110.3GLI2, PTCH1
35heart loopingGO:000194710.3SHH, SMO, SUFU
36negative regulation of canonical Wnt signaling pathwayGO:009009010.3GLI1, ROR2, SHH
37smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:002177610.3GLI2, SUFU
38smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:002177510.3GLI2, SUFU
39embryonic digit morphogenesisGO:004273310.2GLI2, ROR2, SHH
40canonical Wnt signaling pathwayGO:006007010.2GLI1, SHH, SMO
41skin developmentGO:004358810.2PTCH2, SHH, SUFU
42lung developmentGO:003032410.2GLI1, GLI2, SHH
43renal system developmentGO:007200110.2PTCH1, SHH, SMO
44cerebellar cortex morphogenesisGO:002169610.1GLI1, GLI2, SMO
45odontogenesis of dentin-containing toothGO:004247510.1GLI2, SHH, SMO
46osteoblast differentiationGO:000164910.1GLI1, GLI2, SMO
47kidney developmentGO:000182210.1GLI2, SHH, TGFBR1
48somite developmentGO:006105310.0PTCH1, SHH, SMO
49regulation of gene expressionGO:001046810.0SHH, SMO, TGFBR1
50skeletal system developmentGO:00015019.9GLI2, SUFU, TGFBR1

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

idNameGO IDScoreTop Affiliating Genes
1hedgehog family protein bindingGO:009710810.4PTCH1, PTCH2
2hedgehog receptor activityGO:000815810.4PTCH1, PTCH2
3smoothened bindingGO:000511910.4PTCH1, PTCH2
4patched bindingGO:000511310.0PTCH1, SHH, SMO
5Wnt-protein bindingGO:00171479.8ROR2, SMO

Sources for Basal Cell Nevus Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet