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 50 11 22 46 23 24 52 68 12 37 66
Nevoid Basal Cell Carcinoma Syndrome 11 22 46 23 24 13 52 48
Gorlin Syndrome 11 22 46 23 24 52 25
Nbccs 22 23 24 52
Gorlin-Goltz Syndrome 46 24 52
 
Bcns 22 24 68
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies 46
Gorlin Syndrome or Gorlin-Goltz Syndrome 68
Naevoid Basal Cell Carcinoma Syndrome 11
Nevoid Basal Cell Cancer Syndrome 23

Characteristics:

Orphanet epidemiological data:

52
basal cell nevus syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy

HPO:

62
basal cell nevus syndrome:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 109400
Disease Ontology11 DOID:2512
MeSH37 D001478
NCIt43 C2892
Orphanet52 ORPHA377
ICD10 via Orphanet29 Q87.8
UMLS via Orphanet67 C0004779
MedGen35 C0004779

Summaries for Basal Cell Nevus Syndrome

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NIH Rare Diseases:46 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 hearing/vestibular/ear and neoplasm.

Genetics Home Reference:24 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:68 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:69 Nevoid basal-cell carcinoma syndrome (NBCCS), also known as basal-cell nevus syndrome, multiple... more...

Description from OMIM:50 109400

GeneReviews summary 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 60)
idRelated DiseaseScoreTop Affiliating Genes
1basal cell carcinoma 130.6PTCH1, PTCH2, SMO
2medulloblastoma29.3GLI1, PTCH1, PTCH2, SHH, SMO, SUFU
3meier-gorlin syndrome 312.2
4meier-gorlin syndrome 112.2
5meier-gorlin syndrome 212.1
6meier-gorlin syndrome 412.1
7meier-gorlin syndrome 512.1
8meier-gorlin syndrome 612.0
9lopes gorlin syndrome11.9
10focal dermal hypoplasia11.6
11hypertelorism, microtia, facial clefting syndrome11.2
12short tarsus with absence of lower eyelashes11.0
13oculomaxillofacial dysostosis11.0
14microphthalmia, syndromic 210.8
15leopard syndrome10.8
16craniofacial microsomia10.8
17brainstem intraparenchymal clear cell meningioma10.5PTCH1, SUFU
18metatypical basal cell carcinoma10.5PTCH1, SUFU
19homocysteinemia10.5GLI2, PTCH1
20camera marugo cohen syndrome10.5GLI2, PTCH1
21brachydactyly, type a110.4PTCH1, SHH
22basal cell carcinoma10.4
23papillary thymic adenocarcinoma10.4PTCH1, PTCH2
24pneumonia10.3GLI1, SHH
25large intestine lipoma10.2PTCH1, SUFU
26nodular medulloblastoma10.2GLI2, PTCH1, SUFU
27dysautonomia, familial10.1GLI1, GLI2, SHH
28major affective disorder 110.1SHH, SULT2B1
29melanotic medulloblastoma10.1GLI1, PTCH1, SHH, SUFU
30pelizaeus-merzbacher disease in female carriers10.0GAS1, GLI2, PTCH1, SHH
31x-linked dominant intellectual disability-epilepsy syndrome10.0GAS1, GLI2, PTCH1, SHH
32stenosis of lacrimal sac10.0GLI1, PTCH1, SHH, SUFU
33colonic pseudo-obstruction10.0GLI1, GLI2, PTCH1, SUFU
34x-linked intellectual disability, golabi-ito-hall type10.0GAS1, GLI2, PTCH1, SHH
35x-linked intellectual disability, porteous type10.0GAS1, GLI2, PTCH1, SHH
36homocystinuria without methylmalonic aciduria10.0GAS1, GLI2, PTCH1, SHH
37microphthalmia with coloboma 510.0GAS1, GLI2, PTCH1, SHH
38dysplastic nevus syndrome10.0
39pallister-hall syndrome10.0GLI2, KIF7
40hydrocephalus10.0GAS1, GLI2, PTCH1, SHH
41heavy chain disease9.9GLI1, GLI2, PTCH1, SHH
42kummell's disease9.9GLI1, SHH
43pseudopseudohypoparathyroidism9.8
44craniosynostosis9.8
45brachydactyly9.8
46endometrial adenocarcinoma9.8
47adenocarcinoma9.8
48pseudohypoparathyroidism9.8
49infundibulocystic basal cell carcinoma9.8
50ganglioglioma9.8

Graphical network of the top 20 diseases related to Basal Cell Nevus Syndrome:



Diseases related to basal cell nevus syndrome

Symptoms for Basal Cell Nevus Syndrome

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Symptoms by clinical synopsis from OMIM:

109400

Clinical features from OMIM:

109400

Symptoms:

 52 (show all 29)
  • cryptorchidism
  • hypogonadotrophic hypogonadism
  • hydrocephalus
  • brachycephaly
  • epicanthus
  • mandibular prognathia
  • hypertelorism
  • wide nasal bridge
  • abnormality of the neck
  • strabismus
  • glaucoma
  • telecanthus
  • cataract
  • iris coloboma
  • carious teeth
  • melanocytic nevus
  • brachydactyly syndrome
  • arachnodactyly
  • intellectual disability
  • frontal bossing
  • cerebral calcification
  • scoliosis
  • neoplasm
  • hemivertebrae
  • vertebral fusion
  • abnormality of the sense of smell
  • vertebral wedging
  • palmar pits
  • plantar pits

HPO human phenotypes related to Basal Cell Nevus Syndrome:

(show all 107)
id Description Frequency HPO Source Accession
1 melanocytic nevus hallmark (90%) HP:0000995
2 osteolysis hallmark (90%) HP:0002797
3 neoplasm of the skin hallmark (90%) HP:0008069
4 sacrococcygeal pilonidal abnormality hallmark (90%) HP:0010767
5 bone cyst hallmark (90%) HP:0012062
6 skin ulcer hallmark (90%) HP:0200042
7 polycystic ovaries typical (50%) HP:0000147
8 macrocephaly typical (50%) HP:0000256
9 wide nasal bridge typical (50%) HP:0000431
10 abnormality of the neck typical (50%) HP:0000464
11 palmoplantar keratoderma typical (50%) HP:0000982
12 brachydactyly syndrome typical (50%) HP:0001156
13 frontal bossing typical (50%) HP:0002007
14 scoliosis typical (50%) HP:0002650
15 spina bifida occulta typical (50%) HP:0003298
16 abnormal form of the vertebral bodies typical (50%) HP:0003312
17 intestinal polyposis typical (50%) HP:0200008
18 cryptorchidism occasional (7.5%) HP:0000028
19 tall stature occasional (7.5%) HP:0000098
20 renal cyst occasional (7.5%) HP:0000107
21 oral cleft occasional (7.5%) HP:0000202
22 hydrocephalus occasional (7.5%) HP:0000238
23 epicanthus occasional (7.5%) HP:0000286
24 mandibular prognathia occasional (7.5%) HP:0000303
25 hypertelorism occasional (7.5%) HP:0000316
26 conductive hearing impairment occasional (7.5%) HP:0000405
27 strabismus occasional (7.5%) HP:0000486
28 glaucoma occasional (7.5%) HP:0000501
29 visual impairment occasional (7.5%) HP:0000505
30 telecanthus occasional (7.5%) HP:0000506
31 cataract occasional (7.5%) HP:0000518
32 proptosis occasional (7.5%) HP:0000520
33 optic nerve coloboma occasional (7.5%) HP:0000588
34 iris coloboma occasional (7.5%) HP:0000612
35 nystagmus occasional (7.5%) HP:0000639
36 carious teeth occasional (7.5%) HP:0000670
37 abnormality of dental enamel occasional (7.5%) HP:0000682
38 gynecomastia occasional (7.5%) HP:0000771
39 abnormality of the ribs occasional (7.5%) HP:0000772
40 hand polydactyly occasional (7.5%) HP:0001161
41 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
42 arachnodactyly occasional (7.5%) HP:0001166
43 seizures occasional (7.5%) HP:0001250
44 chorea occasional (7.5%) HP:0002072
45 abnormality of the pleura occasional (7.5%) HP:0002103
46 meningioma occasional (7.5%) HP:0002858
47 medulloblastoma occasional (7.5%) HP:0002885
48 vertebral segmentation defect occasional (7.5%) HP:0003422
49 abnormality of the sense of smell occasional (7.5%) HP:0004408
50 abnormality of the carotid arteries occasional (7.5%) HP:0005344
51 finger syndactyly occasional (7.5%) HP:0006101
52 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
53 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
54 glioma occasional (7.5%) HP:0009733
55 sarcoma occasional (7.5%) HP:0100242
56 cognitive impairment occasional (7.5%) HP:0100543
57 neoplasm of the heart occasional (7.5%) HP:0100544
58 ovarian neoplasm occasional (7.5%) HP:0100615
59 bronchogenic cyst occasional (7.5%) HP:0100730
60 intellectual disability rare (5%) HP:0001249
61 cleft palate HP:0000175
62 cleft upper lip HP:0000204
63 hydrocephalus HP:0000238
64 parietal bossing HP:0000242
65 macrocephaly HP:0000256
66 coarse facial features HP:0000280
67 mandibular prognathia HP:0000303
68 hypertelorism HP:0000316
69 wide nasal bridge HP:0000431
70 strabismus HP:0000486
71 glaucoma HP:0000501
72 cataract HP:0000518
73 microphthalmia HP:0000568
74 iris coloboma HP:0000612
75 abnormality of the sternum HP:0000766
76 short ribs HP:0000773
77 bifid ribs HP:0000892
78 sprengel anomaly HP:0000912
79 milia HP:0001056
80 orbital cyst HP:0001144
81 brachydactyly syndrome HP:0001156
82 motor delay HP:0001270
83 frontal bossing HP:0002007
84 spina bifida HP:0002414
85 scoliosis HP:0002650
86 basal cell carcinoma HP:0002671
87 kyphoscoliosis HP:0002751
88 medulloblastoma HP:0002885
89 hemivertebrae HP:0002937
90 vertebral fusion HP:0002948
91 irregular ossification of hand bones HP:0004280
92 hamartomatous stomach polyps HP:0004795
93 bridged sella turcica HP:0005449
94 calcification of falx cerebri HP:0005462
95 supernumerary ribs HP:0005815
96 vertebral wedging HP:0008422
97 short distal phalanx of the thumb HP:0009650
98 cardiac rhabdomyoma HP:0009729
99 short 4th metacarpal HP:0010044
100 polydactyly HP:0010442
101 odontogenic keratocysts of the jaw HP:0010603
102 skin tags HP:0010609
103 palmar pits HP:0010610
104 plantar pits HP:0010612
105 cardiac fibroma HP:0010617
106 ovarian fibroma HP:0010618
107 down-sloping shoulders HP:0200021

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 all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
VerteporfinPhase 386129497-78-5
Synonyms:
Verteporfin
 
Verteporfina
Verteporfinum
Vertéporfine
2
CelecoxibPhase 2427169590-42-52662
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
3
MiconazolePhase 2, Phase 1357322916-47-84189
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
4
TazarotenePhase 239118292-40-35381
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
5
Aminolevulinic acidPhase 2150106-60-5137
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
6hydroxyitraconazolePhase 2145
7
ItraconazolePhase 214584625-61-655283
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
8
NiacinNutraceuticalPhase 286259-67-6938
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
9
NicotinamideNutraceuticalPhase 285898-92-0936
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
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
10FolateNutraceuticalPhase 24143
11
Folic AcidNutraceuticalPhase 2414359-30-36037
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
12Vitamin B3NutraceuticalPhase 2862
13
sirolimusPhase 1186353123-88-95284616, 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
14
EverolimusPhase 11863159351-69-66442177
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
15
Isotretinoin1174759-48-25538, 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
16
Acitretin3055079-83-96437841, 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
17carnitineNutraceutical152

Interventional clinical trials:

(show all 27)
idNameStatusNCT IDPhase
1Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin.TerminatedNCT00049959Phase 3
2To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS)CompletedNCT00957229Phase 2
3Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the FaceCompletedNCT00489086Phase 2
4Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Chest and BackCompletedNCT00783965Phase 2
5Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS)CompletedNCT01350115Phase 2
6A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
7Celecoxib in Preventing Basal Cell Carcinoma in Patients With Basal Cell Nevus SyndromeCompletedNCT00023621Phase 2
8Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell CarcinomasCompletedNCT01556009Phase 2
9Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas (BCC) in Gorlin Syndrome PatientsRecruitingNCT02762084Phase 2
10Photodynamic Therapy Using Blue Light or Red Light in Treating Basal Cell Carcinoma in Patients With Basal Cell Nevus SyndromeRecruitingNCT02258243Phase 2
11Open-label Trial of SUBA™-Itraconazole (SUBA-Cap) in Subjects With Basal Cell Carcinoma Nevus Syndrome (BCCNS)RecruitingNCT02354261Phase 2
12A Study of Two Vismodegib Regimens in Participants With Multiple Basal Cell CarcinomasActive, not recruitingNCT01815840Phase 2
13Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the Size of Sporadic Nodular Basal Cell CarcinomasNot yet recruitingNCT02828111Phase 2
14Topical Sirolimus in Patients With Basal Cell Nevus Syndrome and in Healthy ParticipantsCompletedNCT00433485Phase 1
15Development of a Nanosecond Pulsed Electric Field System to Treat Skin CancerCompletedNCT01463709Phase 1
16A Phase 1 Study of BMS-833923 (XL139) in Subjects With Advanced or Metastatic CancerCompletedNCT00670189Phase 1
17Photodynamic Therapy and Vismodegib for Multiple Basal Cell CarcinomasRecruitingNCT02639117Phase 1
18Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk PatientsCompletedNCT00555633
19The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive DiseasesCompletedNCT00005660
20Isotretinoin in Preventing Skin CancerCompletedNCT00025012
21A Clinical Trial of Dermacorder for Detecting Malignant Skin LesionsCompletedNCT01014819
22An Observational Study of the Effectiveness and Safety of Erivedge® in Patients With Advanced Basal Cell CarcinomaRecruitingNCT02371967
23Levocarnitine in Treating Patients With Vismodegib-Associated Muscle SpasmsRecruitingNCT01893892
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

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 Syndrome25
2 Nevoid Basal Cell Carcinoma Syndrome23 PTCH1, PTCH2, SUFU

Anatomical Context for Basal Cell Nevus Syndrome

About this section

MalaCards organs/tissues related to Basal Cell Nevus Syndrome:

34
Skin, Bone, Ovary, Heart, Eye

Animal Models for Basal Cell Nevus Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Basal Cell Nevus Syndrome:

39 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4GAS1, GLI2, ROR2, SHH, SMO
2MP:00020069.0GLI1, PTCH1, PTCH2, SHH, SUFU, TGFBR1
3MP:00030128.8GLI1, GLI2, KIF7, PTCH1, SHH, SUFU
4MP:00053898.6GLI1, GLI2, KIF7, PTCH1, PTCH2, ROR2
5MP:00053698.4GLI2, KIF7, PTCH1, PTCH2, SHH, SMO
6MP:00028738.1GLI1, GLI2, PTCH1, PTCH2, SHH, SMO
7MP:00053828.1GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
8MP:00053918.0GAS1, GLI2, KIF7, PTCH1, ROR2, SHH
9MP:00053847.8GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
10MP:00053857.7GAS1, KIF7, PTCH1, PTCH2, ROR2, SHH
11MP:00053887.5GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
12MP:00053807.5GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
13MP:00053817.5GLI1, GLI2, KIF7, PTCH1, PTCH2, ROR2
14MP:00053907.4GAS1, GLI2, KIF7, PTCH1, ROR2, SHH
15MP:00107687.3GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
16MP:00053717.3GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
17MP:00053787.1GAS1, GLI1, GLI2, KIF7, PTCH1, ROR2
18MP:00036317.1GAS1, GLI1, GLI2, KIF7, PTCH1, PTCH2
19MP:00053766.7GAS1, GLI2, KIF7, PTCH1, ROR2, SHH

Publications for Basal Cell Nevus Syndrome

About this section

Articles related to Basal Cell Nevus Syndrome:

(show all 50)
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
BASAL CELL NEVUS SYNDROME PRESENTING AS EPIRETINAL MEMBRANE AND MYELINATED NERVE FIBER LAYER. (27533646)
2016
3
Segmental Basal cell nevus syndrome caused by an activating mutation in Smoothened. (26822128)
2016
4
Basal Cell Nevus Syndrome: An Update on Genetics and Treatment. (26409035)
2015
5
Basal cell nevus syndrome: clinical and molecular review and case report. (26356331)
2015
6
Basal cell nevus syndrome or Gorlin syndrome. (26564075)
2015
7
Intermittent Vismodegib Therapy in Basal Cell Nevus Syndrome. (26509945)
2015
8
Dermoscopy for Identification of Basal Cell Carcinomas in Basal Cell Nevus Syndrome During Carbon Dioxide Laser Surgery. (26572667)
2015
9
Hedgehog Pathway Inhibition for Locally Advanced Periocular Basal Cell Carcinoma and Basal Cell Nevus Syndrome. (25935097)
2015
10
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
11
The use of vismodegib to shrink keratocystic odontogenic tumors in patients with basal cell nevus syndrome. (24623282)
2014
12
Sonic hedgehog signaling in Basal cell nevus syndrome. (25172843)
2014
13
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
14
Squamous cell carcinoma of the maxilla in a patient with basal cell nevus syndrome. (24621716)
2014
15
Meningeal calcification in basal cell nevus syndrome. (24287476)
2013
16
"PTCH"-ing it together: a basal cell nevus syndrome review. (23725561)
2013
17
The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects. (23897749)
2013
18
Comment on basal cell carcinoma rebound after cessation of vismodegib in an individual with basal cell nevus syndrome. (23682843)
2013
19
Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome. (22670904)
2012
20
Basal cell nevus syndrome: a rare entity. (22960843)
2012
21
Retraction: Basal cell nevus syndrome showing several histologic types of basal cell carcinoma. (22577287)
2012
22
Conjunctival ganglioglioma as a feature of basal cell nevus syndrome. (21907124)
2011
23
A novel phenotype with features of basal cell nevus syndrome and basaloid follicular hamartoma syndrome. (21679799)
2011
24
Basal cell nevus syndrome showing several histologic types of Basal cell carcinoma. (22028568)
2011
25
Long-term safety, tolerability, and efficacy of vismodegib in two patients with metastatic basal cell carcinoma and basal cell nevus syndrome. (25386306)
2011
26
Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome. (20489535)
2010
27
Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. (19557015)
2009
28
Recurrent petrous apex cholesteatoma in a patient with basal cell nevus syndrome. (18722240)
2008
29
Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. (17021131)
2006
30
Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree. (16733713)
2006
31
Review of patients with basal cell nevus syndrome. (16855496)
2006
32
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. (15690381)
2005
33
Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome. (16227103)
2005
34
Basal cell nevus syndrome. (15725922)
2005
35
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
36
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
37
Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome. (11896785)
2002
38
Novel mutations in the PATCHED gene in basal cell nevus syndrome. (12175781)
2002
39
A novel polymorphism in the PTC gene allows easy identification of allelic loss in basal cell nevus syndrome lesions. (11277394)
2001
40
A mouse model for medulloblastoma and basal cell nevus syndrome. (11718263)
2001
41
Allelic loss at the PTCH gene locus in jaw cysts but not in palmar pits in patients with basal cell nevus syndrome. (11000293)
2000
42
Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. (9620294)
1998
43
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
44
The occurrence of endometrial adenocarcinoma in a patient with basal cell nevus syndrome. (9264223)
1997
45
Basal cell nevus syndrome and dysplastic nevus syndrome: investigation of gene expression by differential hybridization. (8818188)
1996
46
Human homolog of patched, a candidate gene for the basal cell nevus syndrome. (8658145)
1996
47
Basal cell nevus syndrome and medulloblastoma: a case report. (8060441)
1993
48
Hypersensitivity of skin fibroblasts from basal cell nevus syndrome patients to killing by ultraviolet B but not by ultraviolet C radiation. (2297704)
1990
49
Nevoid basal cell carcinoma syndrome. A review and case report of a patient with unilateral basal cell nevus syndrome. (3537024)
1986
50
Concurrence of features of pseudohypoparathyroidism, pseudopseudohypoparathyroidism and basal-cell nevus syndrome. (5480625)
1970

Variations for Basal Cell Nevus Syndrome

About this section

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

68
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 38)
id Gene Variation Type Significance SNP ID Assembly Location
1PTCH1NM_000264.3(PTCH1): c.3947A> G (p.Tyr1316Cys)single nucleotide variantLikely pathogenicrs147067171GRCh37Chr 9, 98209591: 98209591
2PTCH1NM_000264.3(PTCH1): c.3889C> T (p.Arg1297Trp)single nucleotide variantLikely pathogenicrs372027952GRCh37Chr 9, 98209649: 98209649
3PTCH1NM_000264.3(PTCH1): c.395-1G> Asingle nucleotide variantLikely pathogenicrs368869806GRCh37Chr 9, 98248157: 98248157
4PTCH1NM_000264.3(PTCH1): c.3168+2T> Csingle nucleotide variantPathogenicrs786204056GRCh37Chr 9, 98220293: 98220293
5PTCH1NM_000264.3(PTCH1): c.343G> T (p.Gly115Ter)single nucleotide variantPathogenicrs794727242GRCh37Chr 9, 98268740: 98268740
6PTCH1NM_000264.3(PTCH1): c.3449+1G> Asingle nucleotide variantLikely pathogenicrs863224442GRCh38Chr 9, 95453477: 95453477
7PTCH1NM_000264.3(PTCH1): c.3450-2A> Gsingle nucleotide variantLikely pathogenicrs863224443GRCh37Chr 9, 98212224: 98212224
8PTCH1NM_000264.3(PTCH1): c.945+1G> Asingle nucleotide variantPathogenicrs863224444GRCh37Chr 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)single nucleotide variantPathogenicrs863224486GRCh37Chr 9, 98244458: 98244458
12PTCH1NM_000264.3(PTCH1): c.666T> A (p.Tyr222Ter)single nucleotide variantPathogenicrs863224487GRCh38Chr 9, 95482029: 95482029
13PTCH1NM_000264.3(PTCH1): c.1502A> G (p.Gln501Arg)single nucleotide variantPathogenicrs863225054GRCh38Chr 9, 95477548: 95477548
14PTCH1NM_000264.3(PTCH1): c.1591_1601delATCCCTTTTGA (p.Ile531Glyfs)deletionPathogenicrs863225055GRCh37Chr 9, 98239042: 98239052
15PTCH1GRCh37/hg19 9q22.32(chr9: 98207091-98210940)x1copy number lossPathogenicGRCh37Chr 9, 98207091: 98210940
16more than 10GRCh37/hg19 9q22.32(97579146-99280739)x1copy number lossPathogenicGRCh37Chr 9, 97579146: 99280739
17NM_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> Csingle nucleotide variantLikely 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> Gsingle nucleotide variantLikely pathogenicrs878853849GRCh37Chr 9, 98268883: 98268883
24NM_000264.3(PTCH1): c.2391C> A (p.Tyr797Ter)single nucleotide variantPathogenicrs778260156GRCh38Chr 9, 95467285: 95467285
25PTCH1NM_000264.3(PTCH1): c.2561-2A> Tsingle nucleotide variantLikely pathogenicrs878853852GRCh37Chr 9, 98224282: 98224282
26PTCH1NM_000264.3(PTCH1): c.3394T> C (p.Ser1132Pro)single nucleotide variantLikely pathogenicrs878853856GRCh38Chr 9, 95453533: 95453533
27SUFUNM_016169.3(SUFU): c.1022+1G> Asingle nucleotide variantPathogenicrs587776578GRCh37Chr 10, 104359302: 104359302
28PTCH1PTCH1, TRP129TERsingle nucleotide variantPathogenic
29PTCH2NM_001166292.1(PTCH2): c.2156G> A (p.Arg719Gln)single nucleotide variantPathogenicrs121434397GRCh37Chr 1, 45293289: 45293289
30PTCH1PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INSinsertionPathogenic
31PTCH1PTCH1, 11-BP DEL, NT2442deletionPathogenic
32PTCH1NM_000264.3(PTCH1): c.1081C> T (p.Gln361Ter)single nucleotide variantPathogenicrs199476090GRCh37Chr 9, 98241416: 98241416
33PTCH1PTCH1, 37-BP DEL, NT808deletionPathogenic
34PTCH1PTCH1, 1148G-Asingle nucleotide variantPathogenic
35PTCH1PTCH1, 2-BP INS, 2047CTinsertionPathogenic
36PTCH1PTCH1, 1-BP INS, 2000CinsertionPathogenic
37PTCH1PTCH1, 1-BP DEL, 2583CdeletionPathogenic
38PTCH1PTCH1, 1-BP INS, 1247TinsertionPathogenic

Cosmic variations for Basal Cell Nevus Syndrome:

8 (show top 50)    (show all 222)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM43582TP53skin,NS,carcinoma,basal cell carcinomac.454C>Tp.P152S0
2COSM17476PTCH1skin,NS,carcinoma,basal cell carcinomac.707G>Ap.W236*0
3COSM96958PTCH1skin,NS,carcinoma,basal cell carcinomac.1930C>Tp.P644S0
4COSM29054PTCH1skin,NS,carcinoma,basal cell carcinomac.387G>Ap.W129*0
5COSM17475PTCH1skin,NS,carcinoma,basal cell carcinomac.1292T>Ap.L431Q0
6COSM10728TP53skin,NS,carcinoma,basal cell carcinomac.839G>Ap.R280K0
7COSM44241TP53skin,NS,carcinoma,basal cell carcinomac.592G>Tp.E198*0
8COSM10768TP53skin,NS,carcinoma,basal cell carcinomac.535C>Tp.H179Y0
9COSM17467PTCH1skin,NS,carcinoma,basal cell carcinomac.1726C>Tp.Q576*0
10COSM17522PTCH1skin,NS,carcinoma,basal cell carcinomac.3586C>Tp.P1196S0
11COSM29033PTCH1skin,NS,carcinoma,basal cell carcinomac.2038G>Tp.E680*0
12COSM17483PTCH1skin,NS,carcinoma,basal cell carcinomac.1729-1G>Tp.?0
13COSM490HRASskin,NS,carcinoma,basal cell carcinomac.38G>Ap.G13D0
14COSM1716826STAT5Bskin,NS,carcinoma,basal cell carcinomac.1697G>Ap.R566Q0
15COSM10660TP53skin,NS,carcinoma,basal cell carcinomac.818G>Ap.R273H0
16COSM17519PTCH1skin,NS,carcinoma,basal cell carcinomac.463C>Tp.P155S0
17COSM10662TP53skin,NS,carcinoma,basal cell carcinomac.743G>Ap.R248Q0
18COSM17472PTCH1skin,NS,carcinoma,basal cell carcinomac.1249C>Tp.Q417*0
19COSM516KRASskin,NS,carcinoma,basal cell carcinomac.34G>Tp.G12C0
20COSM14464PTCH1skin,NS,carcinoma,basal cell carcinomac.1804C>Tp.R602*0
21COSM44435TP53skin,NS,carcinoma,basal cell carcinomac.96+1G>Ap.?0
22COSM12296TP53skin,NS,carcinoma,basal cell carcinomac.292C>Tp.P98S0
23COSM29048PTCH1skin,NS,carcinoma,basal cell carcinomac.1347+1G>Ap.?0
24COSM43837TP53skin,NS,carcinoma,basal cell carcinomac.843C>Gp.D281E0
25COSM17592PTCH1skin,NS,carcinoma,basal cell carcinomac.3605C>Tp.P1202L0
26COSM17453PTCH1skin,NS,carcinoma,basal cell carcinomac.3196G>Tp.E1066*0
27COSM26363PTCH1skin,NS,carcinoma,basal cell carcinomac.2446C>Tp.Q816*0
28COSM10656TP53skin,NS,carcinoma,basal cell carcinomac.742C>Tp.R248W0
29COSM17490PTCH1skin,NS,carcinoma,basal cell carcinomac.3584C>Tp.T1195I0
30COSM26377PTCH1skin,NS,carcinoma,basal cell carcinomac.3449+1G>Ap.?0
31COSM3942015SMOskin,NS,carcinoma,basal cell carcinomac.961G>Ap.V321M0
32COSM11152TP53skin,NS,carcinoma,basal cell carcinomac.700T>Cp.Y234H0
33COSM10794TP53skin,NS,carcinoma,basal cell carcinomac.796G>Ap.G266R0
34COSM564NRASskin,NS,carcinoma,basal cell carcinomac.35G>Ap.G12D0
35COSM17584PTCH1skin,NS,carcinoma,basal cell carcinomac.2105C>Tp.P702L0
36COSM17511PTCH1skin,NS,carcinoma,basal cell carcinomac.3583A>Tp.T1195S0
37COSM17598PTCH1skin,NS,carcinoma,basal cell carcinomac.550C>Tp.Q184*0
38COSM29147PTCH1skin,NS,carcinoma,basal cell carcinomac.1356T>Gp.Y452*0
39COSM13146SMOskin,NS,carcinoma,basal cell carcinomac.1604G>Tp.W535L0
40COSM17498PTCH1skin,NS,carcinoma,basal cell carcinomac.2033C>Tp.T678I0
41COSM520KRASskin,NS,carcinoma,basal cell carcinomac.35G>Tp.G12V0
42COSM14455PTCH1skin,NS,carcinoma,basal cell carcinomac.3590C>Tp.S1197F0
43COSM26365PTCH1skin,NS,carcinoma,basal cell carcinomac.475A>Tp.I159L0
44COSM10905TP53skin,NS,carcinoma,basal cell carcinomac.451C>Tp.P151S0
45COSM1651687PTCH1skin,NS,carcinoma,basal cell carcinomac.2557C>Tp.Q853*0
46COSM44097TP53skin,NS,carcinoma,basal cell carcinomac.530C>Tp.P177L0
47COSM17551PTCH1skin,NS,carcinoma,basal cell carcinomac.1396C>Tp.Q466*0
48COSM521KRASskin,hand,carcinoma,NSc.35G>Ap.G12D0
49COSM10863TP53skin,NS,carcinoma,basal cell carcinomac.833C>Tp.P278L0
50COSM43583TP53skin,eye,carcinoma,basal cell carcinomac.425C>Tp.P142L0

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 14)
idSuper pathwaysScoreTop Affiliating Genes
19.9PTCH1, SHH
29.6PTCH1, SHH, SMO
3
Show member pathways
9.4PTCH1, PTCH2, SHH, SMO
48.9GLI1, GLI2, PTCH1, SHH, SMO
5
Show member pathways
8.7GLI1, GLI2, PTCH1, PTCH2, SMO, SUFU
6
Show member pathways
8.7GAS1, GLI2, PTCH1, PTCH2, SHH, SMO
78.3GLI1, GLI2, PTCH1, PTCH2, SHH, SUFU
8
Show member pathways
8.1GAS1, GLI1, PTCH1, PTCH2, ROR2, SMO
98.0GLI1, GLI2, PTCH1, PTCH2, SHH, SMO
10
Show member pathways
7.9GAS1, GLI1, GLI2, PTCH1, PTCH2, ROR2
11
Show member pathways
7.8GAS1, GLI1, GLI2, KIF7, PTCH1, SHH
127.8GLI1, GLI2, PTCH1, SAP18, SHH, SMO
13
Show member pathways
7.3GAS1, GLI1, GLI2, PTCH1, PTCH2, SAP18
14
Show member pathways
6.9GAS1, 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:00975469.5GLI1, GLI2, SUFU
2primary ciliumGO:00723729.2GLI1, GLI2, PTCH1, SMO, SUFU
3ciliary tipGO:00975428.9GLI1, GLI2, KIF7, SMO, SUFU
4ciliumGO:00059298.7GLI1, GLI2, KIF7, SMO, SUFU

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

(show top 50)    (show all 64)
idNameGO IDScoreTop Affiliating Genes
1epidermal cell fate specificationGO:000995710.7PTCH1, PTCH2
2positive regulation of epidermal cell differentiationGO:004560610.6PTCH1, PTCH2
3smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:002177510.5GLI2, SUFU
4smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:002177610.5GLI2, SUFU
5smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:006083110.5GLI2, PTCH1
6notochord regressionGO:006003210.5GLI1, GLI2
7positive regulation of hh target transcription factor activityGO:000722810.5SHH, SMO
8digestive tract morphogenesisGO:004854610.5GLI1, SHH
9mammary gland epithelial cell differentiationGO:006064410.5PTCH1, SMO
10positive regulation of T cell differentiation in thymusGO:003308910.5GLI2, SHH
11pharyngeal system developmentGO:006003710.5PTCH1, TGFBR1
12hindgut morphogenesisGO:000744210.5GLI2, SHH
13anatomical structure developmentGO:004885610.4GLI2, SHH
14epithelial-mesenchymal cell signalingGO:006068410.4SHH, SMO
15positive regulation of protein import into nucleusGO:004230710.4SHH, SMO
16cellular response to cholesterolGO:007139710.4PTCH1, SMO
17mammary gland duct morphogenesisGO:006060310.4GLI2, PTCH1
18thalamus developmentGO:002179410.4SHH, SMO
19determination of left/right asymmetry in lateral mesodermGO:000314010.3SHH, SMO
20somite developmentGO:006105310.3PTCH1, SHH, SMO
21spinal cord dorsal/ventral patterningGO:002151310.2GLI2, SHH, SUFU
22cell fate commitmentGO:004516510.2GAS1, ROR2, SHH
23spinal cord motor neuron differentiationGO:002152210.2GLI2, PTCH1, SHH
24ventral midline developmentGO:000741810.2GLI1, GLI2, SHH
25negative regulation of chondrocyte differentiationGO:003233110.1GLI2, TGFBR1
26cerebellar cortex morphogenesisGO:002169610.1GLI1, GLI2, SMO
27skin developmentGO:004358810.1PTCH2, SHH, SUFU
28renal system developmentGO:007200110.1PTCH1, SHH, SMO
29embryonic organ developmentGO:004856810.0PTCH1, SHH, SMO
30embryonic digit morphogenesisGO:004273310.0GLI2, ROR2, SHH
31heart loopingGO:00019479.9SHH, SMO, SUFU
32dorsal/ventral neural tube patterningGO:00219049.8GLI2, PTCH1, SHH, SMO
33lung developmentGO:00303249.8GLI1, GLI2, SHH
34smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:00219389.8GLI1, GLI2, SHH, SMO
35canonical Wnt signaling pathwayGO:00600709.8GLI1, SHH, SMO
36negative regulation of smoothened signaling pathwayGO:00458799.8KIF7, PTCH1, PTCH2, SUFU
37regulation of smoothened signaling pathwayGO:00085899.8GAS1, GLI1, GLI2, PTCH1
38kidney developmentGO:00018229.8GLI2, SHH, TGFBR1
39osteoblast differentiationGO:00016499.6GLI1, GLI2, SMO
40developmental growthGO:00485899.6GAS1, GLI2, SHH, SMO
41in utero embryonic developmentGO:00017019.5GLI2, PTCH1, SMO, TGFBR1
42pattern specification processGO:00073899.5GLI2, PTCH1, SHH, SMO
43determination of left/right symmetryGO:00073689.5SHH, SMO, SUFU
44positive regulation of smoothened signaling pathwayGO:00458809.4GLI1, KIF7, SHH, SMO
45anterior/posterior pattern specificationGO:00099529.4GLI2, SHH, SMO, TGFBR1
46odontogenesis of dentin-containing toothGO:00424759.2AMTN, GLI2, SHH, SMO
47smoothened signaling pathwayGO:00072248.9GLI1, GLI2, PTCH1, ROR2, SHH, SMO
48positive regulation of cell proliferationGO:00082848.7GLI1, GLI2, SHH, SMO, TGFBR1
49dorsal/ventral pattern formationGO:00099538.6GLI1, GLI2, PTCH1, SHH, SMO
50positive regulation of transcription, DNA-templatedGO:00458938.4GLI1, GLI2, PTCH1, ROR2, SHH, SMO

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

idNameGO IDScoreTop Affiliating Genes
1hedgehog family protein bindingGO:009710810.2PTCH1, PTCH2
2hedgehog receptor activityGO:000815810.1PTCH1, PTCH2
3smoothened bindingGO:000511910.1PTCH1, PTCH2
4patched bindingGO:00051139.6PTCH1, SHH, SMO

Sources for Basal Cell Nevus Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet