MCID: BSL036
MIFTS: 62

Basal Cell Nevus Syndrome malady

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

Aliases & Classifications for Basal Cell Nevus Syndrome

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Aliases & Descriptions for Basal Cell Nevus Syndrome:

Name: Basal Cell Nevus Syndrome 49 10 11 21 45 22 23 51 67 36 65
Nevoid Basal Cell Carcinoma Syndrome 10 21 45 22 23 47 12 51
Gorlin Syndrome 10 21 45 22 23 51 24
Nbccs 21 22 23 51
Gorlin-Goltz Syndrome 45 23 51
 
Bcns 21 23 67
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies 45
Gorlin Syndrome or Gorlin-Goltz Syndrome 67
Naevoid Basal Cell Carcinoma Syndrome 10
Nevoid Basal Cell Cancer Syndrome 22

Characteristics:

Orphanet epidemiological data:

51
basal cell nevus syndrome:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

HPO:

61
basal cell nevus syndrome:
Onset and clinical course: variable expressivity
Inheritance: heterogeneous, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 109400
Disease Ontology10 DOID:2512
MeSH36 D001478
NCIt42 C2892
Orphanet51 377
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C0004779
MedGen34 C0004779
UMLS65 C0004779

Summaries for Basal Cell Nevus Syndrome

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NIH Rare Diseases:45 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 meier-gorlin syndrome 1, and has symptoms including skin ulcer, bone cyst and sacrococcygeal pilonidal abnormality. 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 pigmentation and tumorigenesis.

UniProtKB/Swiss-Prot:67 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.

Genetics Home Reference:23 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.

Wikipedia:68 Nevoid basal-cell carcinoma syndrome (NBCCS), also known as basal-cell nevus syndrome, multiple... more...

Description from OMIM:49 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 101)
idRelated DiseaseScoreTop Affiliating Genes
1basal cell carcinoma 131.1PTCH1, PTCH2, SMO
2meier-gorlin syndrome 112.6
3meier-gorlin syndrome 212.5
4meier-gorlin syndrome 312.5
5meier-gorlin syndrome 412.5
6meier-gorlin syndrome 512.5
7lopes gorlin syndrome12.3
8focal dermal hypoplasia11.5
9leukemia10.6
10bacteremia10.4
11myelodysplastic syndrome10.4
12aplastic anemia10.4
13adult t-cell leukemia10.4
14erysipelas10.4
15endomyocardial fibrosis10.4
16metabolic syndrome x10.4
17choriocarcinoma10.4
18pneumonia10.4
19t-cell leukemia10.4
20myeloid leukemia10.4
21light and heavy chain deposition disease10.4
22heavy chain deposition disease10.4
23adult central nervous system primitive neuroectodermal neoplasm10.3SHH, SUFU
24childhood infratentorial neoplasm10.3PTCH1, SUFU
25colorectal cancer10.3
26ectodermal dysplasia10.3
27chikungunya10.3
28esophagitis10.3
29ovarian cancer10.3
30cleft lip10.3
31eec syndrome10.3
32calloso-genital dysplasia10.3GLI2, PTCH1
33nodular basal cell carcinoma10.3SMO, SUFU
34breast cancer10.2
35thyroiditis10.2
36childhood central nervous system primitive neuroectodermal neoplasm10.2PTCH1, SUFU
37small bowel fibrosarcoma10.2GLI3, PTCH1
38cervical incompetence10.2PTCH1, SHH
39lipoma of the rectum10.2PTCH1, SUFU
40penis squamous cell carcinoma10.1GLI1, SHH
41human venous malformation10.1GLI2, PTCH1, SHH
42myocardial infarction10.1
43thiamine-responsive megaloblastic anemia syndrome10.1
44prostate cancer10.1
45keratitis10.1
46acute myocardial infarction10.1
47diabetic foot ulcers10.1
48glomerulonephritis10.1
49tungiasis10.1
50membranous glomerulonephritis10.1

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:

 51 (show all 72)
  • enlargment of jaw/large jaw
  • anomalies of teeth and dentition
  • dermoid sinus/dimple/pit (excluding sacral)
  • chronic skin infection/ulcerations/ulcers/cancrum
  • follicular/erythematous/edematous papules/milium
  • pigmented naevi/naevus pigmentosus/lentigo
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • osteolysis/osteoclasia/bone destruction/erosions
  • bone cyst
  • neoplasms/tumors
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • autosomal dominant inheritance
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • frontal bossing/prominent forehead
  • broad nasal root
  • hamartoma/tumefaction of the tongue/gingivae/oral mucosa
  • anomalies of the neck
  • scoliosis
  • spina bifida occulta
  • abnormal vertebral size/shape
  • short hand/brachydactyly
  • palmoplantar hyperkeratosis/keratoderma
  • polyposis of the bowel/colon/intestine
  • abnormal/polycystic ovaries
  • skull/cranial anomalies
  • brachycephaly/flat occiput
  • hypertelorism
  • proptosis/exophthalmos
  • prognathism/prognathia
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • glaucoma
  • coloboma of iris
  • cataract/lens opacification
  • coloboma of the optic nerve
  • visual loss/blindness/amblyopia
  • strabismus/squint
  • nystagmus
  • epicanthic folds
  • telecanthus/canthal dystopy
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • cleft lip and palate
  • enamel anomaly
  • multiple caries
  • anomalies of ear and hearing
  • conductive deafness/hearing loss
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • anomalies of the ribs
  • vertebral segmentation anomaly/hemivertebrae
  • long hand/arachnodactyly
  • metacarpal anomalies/archibald's sign
  • syndactyly of fingers/interdigital palm
  • upper limb polydactyly/hexadactyly
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • bronchogenic cyst
  • carotid artery anomalies
  • renal/kidney anomalies
  • renal cyst (single)
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • late puberty/hypogonadism/hypogenitalism
  • hydrocephaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • digestive neoplasm/tumor/carcinoma/cancer
  • heart/cardiac tumor
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • sarcoma
  • glial tumor/glioblastoma
  • medulloblastoma
  • meningioma
  • tall stature/gigantism/growth acceleration

HPO human phenotypes related to Basal Cell Nevus Syndrome:

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

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 39)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Verteporfinapproved, investigationalPhase 383129497-78-55362420
Synonyms:
Verteporfin
Verteporfina
 
Verteporfinum
Vertéporfine
Visudyne
2Dermatologic AgentsPhase 3, Phase 24555
3Photosensitizing AgentsPhase 3, Phase 2374
4
Celecoxibapproved, investigationalPhase 2419169590-42-52662
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
Aminolevulinic acidapprovedPhase 2142106-60-5137
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-Aminolevulinate hydrochloride
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
Levulan Kerastick
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
6
Tazaroteneapproved, investigationalPhase 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
Fabior
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
Miconazoleapproved, investigationalPhase 2, Phase 1302622916-47-84189
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
Desenex
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
Makesense
Micantin (nitrate)
Micatin
 
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
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
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
8
Itraconazoleapproved, investigationalPhase 213484625-61-655283
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
Onmel
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
9Cyclooxygenase InhibitorsPhase 22225
10Cyclooxygenase 2 InhibitorsPhase 2538
11Pharmaceutical SolutionsPhase 27004
12Peripheral Nervous System AgentsPhase 218510
13Antirheumatic AgentsPhase 28496
14Keratolytic AgentsPhase 2273
15Contraceptives, OralPhase 23734
16Analgesics, Non-NarcoticPhase 25184
17AnalgesicsPhase 29358
18Anti-Inflammatory AgentsPhase 28478
19Anti-Inflammatory Agents, Non-SteroidalPhase 23549
20Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 29988
21HydroxyitraconazolePhase 2134
22HormonesPhase 211748
23Cytochrome P-450 CYP3A InhibitorsPhase 21421
24Hormone AntagonistsPhase 210002
25Anti-Infective AgentsPhase 2, Phase 117220
26Antifungal AgentsPhase 2, Phase 13015
27Cytochrome P-450 Enzyme InhibitorsPhase 23036
28
EverolimusapprovedPhase 11797159351-69-66442177
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
Afinitor Disperz
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
VOTUBIA
Zortress
everolimus
29
Sirolimusapproved, investigationalPhase 1179753123-88-95284616, 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
30Immunosuppressive AgentsPhase 110422
31Immunologic FactorsPhase 118483
32Antibiotics, AntitubercularPhase 15971
33Anti-Bacterial AgentsPhase 19140
34
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
35
Isotretinoinapproved1154759-48-25538, 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
Absorica
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
Clarus
D00348
D015474
EINECS 225-296-0
EU-0101081
Epuris
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
Myorisan
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
Zenatane
cis-RA
cis-Retinoate
cis-Retinoic acid
isotretinoino
36Radiation-Protective Agents333
37Sunscreening Agents79
38Protective Agents5651
39carnitineNutraceutical146

Interventional clinical trials:

(show all 26)
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 (SEB) 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 Patients With Multiple Basal Cell CarcinomasActive, not recruitingNCT01815840Phase 2
13Development of a Nanosecond Pulsed Electric Field System to Treat Skin CancerCompletedNCT01463709Phase 1
14A Phase 1 Study of BMS-833923 (XL139) in Subjects With Advanced or Metastatic CancerCompletedNCT00670189Phase 1
15Photodynamic Therapy and Vismodegib for Multiple Basal Cell CarcinomasRecruitingNCT02639117Phase 1
16Topical Sirolimus in Patients With Basal Cell Nevus Syndrome and in Healthy ParticipantsActive, not recruitingNCT00433485Phase 1
17Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk PatientsCompletedNCT00555633
18The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive DiseasesCompletedNCT00005660
19Isotretinoin in Preventing Skin CancerCompletedNCT00025012
20A Clinical Trial of Dermacorder for Detecting Malignant Skin LesionsCompletedNCT01014819
21An Observational Study of the Effectiveness and Safety of Erivedge® in Patients With Advanced Basal Cell CarcinomaRecruitingNCT02371967
22Sonidegib and Buparlisib in Treating Patients With Advanced or Metastatic Basal Cell CarcinomaRecruitingNCT02303041
23Levocarnitine in Treating Patients With Vismodegib-Associated Muscle SpasmsRecruitingNCT01893892
24Study of BMS-833923 in Two Specific Patients With Basal Cell Nevus SyndromeActive, not recruitingNCT02100371
25An 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
26Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus SyndromeNot yet recruitingNCT02157623

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 Nevoid Basal Cell Carcinoma Syndrome22 PTCH1, SUFU, PTCH2

Anatomical Context for Basal Cell Nevus Syndrome

About this section

MalaCards organs/tissues related to Basal Cell Nevus Syndrome:

33
Skin, Bone, Ovary, Heart, Eye, Testes, Colon

Animal Models for Basal Cell Nevus Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Basal Cell Nevus Syndrome:

38 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1BMPR1A, GAS1, GLI3, PTCH1, SUFU
2MP:00020069.0BMPR1A, GLI1, PTCH1, PTCH2, SHH, SUFU
3MP:00107718.4BMPR1A, GLI2, GLI3, PTCH1, PTCH2, SHH
4MP:00028738.2BMPR1A, GLI1, GLI2, PTCH1, PTCH2, SHH
5MP:00053698.1BMPR1A, GLI2, KIF7, PTCH1, PTCH2, SHH
6MP:00053778.0BMPR1A, GAS1, GLI2, GLI3, ROR2, SHH
7MP:00053797.9BMPR1A, DHH, GLI1, GLI2, GLI3, PTCH1
8MP:00030127.6BMPR1A, GLI1, GLI2, GLI3, KIF7, PTCH1
9MP:00053917.1BMPR1A, GAS1, GLI2, GLI3, KIF7, PTCH1
10MP:00053857.0BMPR1A, GAS1, GLI3, KIF7, PTCH1, PTCH2
11MP:00053887.0BMPR1A, GAS1, GLI1, GLI2, GLI3, KIF7
12MP:00053896.9BMPR1A, DHH, GLI1, GLI2, GLI3, KIF7
13MP:00053846.9BMPR1A, GAS1, GLI1, GLI2, GLI3, KIF7
14MP:00053806.8BMPR1A, GAS1, GLI1, GLI2, GLI3, KIF7
15MP:00053816.8DHH, GLI1, GLI2, GLI3, KIF7, PTCH1
16MP:00053716.7BMPR1A, GAS1, GLI1, GLI2, GLI3, KIF7
17MP:00053906.7BMPR1A, GAS1, GLI2, GLI3, KIF7, PTCH1
18MP:00053826.6BMPR1A, GAS1, GLI1, GLI2, GLI3, KIF7
19MP:00107686.5BMPR1A, GAS1, GLI1, GLI2, GLI3, KIF7
20MP:00053786.5BMPR1A, GAS1, GLI1, GLI2, GLI3, KIF7
21MP:00036315.9BMPR1A, DHH, GAS1, GLI1, GLI2, GLI3
22MP:00053765.7BMPR1A, DHH, GAS1, GLI2, GLI3, KIF7

Publications for Basal Cell Nevus Syndrome

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Articles related to Basal Cell Nevus Syndrome:

(show all 47)
idTitleAuthorsYear
1
Case report of lumbar intradural capillary hemangioma. (27069745)
2016
2
Coexistence of low vitamin D and high fibroblast growth factor-23 plasma levels predicts an adverse outcome in patients with coronary artery disease. (24748388)
2014
3
Essential role of aldehyde dehydrogenase 1A3 for the maintenance of non-small cell lung cancer stem cells is associated with the STAT3 pathway. (24907115)
2014
4
Heterogeneity of muscle fat infiltration in children with spina bifida. (24169376)
2014
5
Disease associated with exposure to certain herbicide agents: peripheral neuropathy. (24040683)
2013
6
CNP and DPYSL2 mRNA expression and promoter methylation levels in brain of Alzheimer's disease patients. (22954668)
2013
7
Respiratory viral infections in pregnant women with asthma are associated with wheezing in the first 12A months of life. (24329935)
2013
8
Imported pigs may have introduced the first classical swine influenza viruses into Mainland China. (23567818)
2013
9
Chest CT in bronchopulmonary dysplasia: clinical and radiological correlations. (23169612)
2013
10
Quantitative elastography associated with endoscopic ultrasound for the diagnosis of chronic pancreatitis. (24019131)
2013
11
Detecting plasma cell precursors in autoimmune hepatitis. (22351677)
2012
12
Eosinophilic gastroenteritis due to cow's milk allergy presenting with acute pancreatitis. (22627371)
2012
13
Constitutive activation of LXR in macrophages regulates metabolic and inflammatory gene expression: identification of ARL7 as a direct target. (21187453)
2011
14
Attenuation of endoplasmic reticulum stress-related myocardial apoptosis by SERCA2a gene delivery in ischemic heart disease. (21152695)
2011
15
Clinical profile and HLA-DRB1 genotype of late onset multiple sclerosis in Western Australia. (20580995)
2010
16
Association of type 2 diabetes candidate polymorphisms in KCNQ1 with incretin and insulin secretion. (19366866)
2009
17
Immunohistochemical pattern of protein P21, cyclin D1 and cyclin E in endometrial hyperplasia. (19670700)
2009
18
A comprehensive guide to the ROMK potassium channel: form and function in health and disease. (19458126)
2009
19
Association of human NAD(P)H:quinone oxidoreductase 1 (NQO1) polymorphism with development of acute lung injury. (19017358)
2009
20
Dysregulation of immunoexpression of matrix metalloproteinases in renal chronic allograft injury. (19886183)
2009
21
Parallel improvement of sodium and chloride transport defects by miglustat (n-butyldeoxynojyrimicin) in cystic fibrosis epithelial cells. (18309088)
2008
22
Clinical uses of GM-CSF, a critical appraisal and update. (19707424)
2008
23
How does chondroitinase promote functional recovery in the damaged CNS? (17572406)
2007
24
Release of soluble CD40L from platelets is regulated by glycoprotein IIb/IIIa and actin polymerization. (15193700)
2004
25
A virtual user involvement forum for people living with motor neuron disease. (14680522)
2003
26
Variation near the region of the lipoprotein lipase gene and hypertension or blood pressure levels in Chinese. (12862202)
2003
27
Natural history of sigmoid colon cancer: report of a patient observed for 4 years. (11293765)
2001
28
The acute phase response and exercise: court and field sports. (11375875)
2001
29
Effect of recombinant human basic fibroblast growth factor on acute inflammation in mice and rats. (11742593)
2001
30
HMG-CoA reductase inhibitors increase BMD in type 2 diabetes mellitus patients. (10720052)
2000
31
IscU as a scaffold for iron-sulfur cluster biosynthesis: sequential assembly of [2Fe-2S] and [4Fe-4S] clusters in IscU. (10891064)
2000
32
Overexpression of membrane domain of SCAP prevents sterols from inhibiting SCAP.SREBP exit from endoplasmic reticulum. (10896675)
2000
33
Dexamethasone counteracts the effect of prolactin on islet function: implications for islet regulation in late pregnancy. (10746642)
2000
34
Effect of delta-aminolevulinic acid on protoporphyrin IX accumulation in tumor cells transfected with plasmids containing porphobilinogen deaminase DNA. (10483361)
1999
35
Efficacy of lamotrigine in idiopathic generalized epilepsy syndromes: a video-EEG-controlled, open study. (10937148)
1999
36
Imaging of spinal intradural arachnoid cysts: MRI, myelography and CT. (9833898)
1998
37
Cholelithiasis in young Saudi women. (9640820)
1998
38
Epilepsy, learning disability and anti-convulsant drug status. (9400201)
1997
39
Multiple Grb2-protein complexes in human cancer cells. (9009162)
1997
40
An unusual meningioma variant with glial fibrillary acidic protein expression. (9386784)
1997
41
Homocitrullinuria and homoargininuria in lysinuric protein intolerance. (2474087)
1989
42
Attenuation of bovine parainfluenza virus type 3 in nonhuman primates and its ability to confer immunity to human parainfluenza virus type 3 challenge. (2831282)
1988
43
Dysplasia epiphysealis hemimelica. A case report and literature review. (4057062)
1985
44
Cerebellar hemangioblastoma and subependymoma: a case report of an unprecedented association. (3995811)
1985
45
Biofeedback as a treatment for postural hypotension. (4048365)
1985
46
Prognosis and management of corneal transplantation for herpetic keratitis. (7000050)
1980
47
Primary malignant lymphoma of the testis associated with sclerosis and nodularity. (837044)
1977

Variations for Basal Cell Nevus Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1PTCH1p.Leu175ProVAR_007843
2PTCH1p.Phe376SerVAR_007844
3PTCH1p.Arg1114TrpVAR_007847
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 34)
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.3241G> A (p.Val1081Met)single nucleotide variantLikely pathogenicrs587778629GRCh38Chr 9, 95456341: 95456341
4PTCH1NM_000264.3(PTCH1): c.395-1G> Asingle nucleotide variantLikely pathogenicrs368869806GRCh37Chr 9, 98248157: 98248157
5PTCH1NM_000264.3(PTCH1): c.3168+2T> Csingle nucleotide variantPathogenicrs786204056GRCh37Chr 9, 98220293: 98220293
6PTCH1NM_000264.3(PTCH1): c.343G> T (p.Gly115Ter)single nucleotide variantPathogenicrs794727242GRCh37Chr 9, 98268740: 98268740
7PTCH1NM_000264.3(PTCH1): c.3449+1G> Asingle nucleotide variantLikely pathogenicrs863224442GRCh38Chr 9, 95453477: 95453477
8PTCH1NM_000264.3(PTCH1): c.3450-2A> Gsingle nucleotide variantLikely pathogenicrs863224443GRCh37Chr 9, 98212224: 98212224
9PTCH1NM_000264.3(PTCH1): c.945+1G> Asingle nucleotide variantLikely pathogenicrs863224444GRCh37Chr 9, 98242671: 98242671
10PTCH1NM_000264.3(PTCH1): c.2799delG (p.Tyr934Metfs)deletionPathogenicrs863224484GRCh38Chr 9, 95459688: 95459688
11PTCH1NM_000264.3(PTCH1): c.2842_2849delTGGGTCCA (p.Trp948Argfs)deletionPathogenicrs863224485GRCh38Chr 9, 95459638: 95459645
12PTCH1NM_000264.3(PTCH1): c.612C> G (p.Tyr204Ter)single nucleotide variantPathogenicrs863224486GRCh38Chr 9, 95482176: 95482176
13PTCH1NM_000264.3(PTCH1): c.666T> A (p.Tyr222Ter)single nucleotide variantPathogenicrs863224487GRCh38Chr 9, 95482029: 95482029
14PTCH1NM_000264.3(PTCH1): c.1502A> G (p.Gln501Arg)single nucleotide variantPathogenicrs863225054GRCh38Chr 9, 95477548: 95477548
15PTCH1NM_000264.3(PTCH1): c.1591_1601delATCCCTTTTGA (p.Ile531Glyfs)deletionPathogenicrs863225055GRCh38Chr 9, 95476760: 95476770
16PTCH1GRCh37/hg19 9q22.32(chr9: 98207091-98210940)x1copy number lossPathogenicGRCh37Chr 9, 98207091: 98210940
17more than 10GRCh37/hg19 9q22.32(97579146-99280739)x1copy number lossPathogenicGRCh37Chr 9, 97579146: 99280739
18NM_000264.3(PTCH1): c.2539_2542delTACTinsAGindelPathogenicrs863225467GRCh37Chr 9, 98229416: 98229419
19PTCH1NM_000264.3(PTCH1): c.258_259delCTdeletionPathogenicrs864622212GRCh37Chr 9, 98268824: 98268825
20PTCH1NM_000264.3(PTCH1): c.1503+1G> Csingle nucleotide variantLikely pathogenicrs864622293GRCh38Chr 9, 95477546: 95477546
21PTCH1NM_000264.3(PTCH1): c.1329delCdeletionPathogenicrs864622374GRCh38Chr 9, 95478073: 95478073
22PTCH1NM_000264.3(PTCH1): c.270_304del35 (p.Tyr93Glyfs)deletionPathogenicrs864622583GRCh37Chr 9, 98268779: 98268813
23SUFUNM_016169.3(SUFU): c.1022+1G> Asingle nucleotide variantPathogenicrs587776578GRCh37Chr 10, 104359302: 104359302
24PTCH1PTCH1, TRP129TERsingle nucleotide variantPathogenic
25PTCH2NM_001166292.1(PTCH2): c.2156G> A (p.Arg719Gln)single nucleotide variantPathogenicrs121434397GRCh37Chr 1, 45293289: 45293289
26PTCH1PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INSinsertionPathogenic
27PTCH1PTCH1, 11-BP DEL, NT2442deletionPathogenic
28PTCH1NM_000264.3(PTCH1): c.1081C> T (p.Gln361Ter)single nucleotide variantPathogenicrs199476090GRCh37Chr 9, 98241416: 98241416
29PTCH1PTCH1, 37-BP DEL, NT808deletionPathogenic
30PTCH1PTCH1, 1148G-Asingle nucleotide variantPathogenic
31PTCH1PTCH1, 2-BP INS, 2047CTinsertionPathogenic
32PTCH1PTCH1, 1-BP INS, 2000CinsertionPathogenic
33PTCH1PTCH1, 1-BP DEL, 2583CdeletionPathogenic
34PTCH1PTCH1, 1-BP INS, 1247TinsertionPathogenic

Cosmic variations for Basal Cell Nevus Syndrome:

7 (show top 50)    (show all 755)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM29071PTCH1skin,NS,carcinoma,basal cell carcinoma3
2COSM29071PTCH1skin,NS,carcinoma,basal cell carcinoma3
3COSM29070PTCH1skin,NS,carcinoma,basal cell carcinoma3
4COSM29070PTCH1skin,NS,carcinoma,basal cell carcinoma3
5COSM29147PTCH1skin,NS,carcinoma,basal cell carcinoma3
6COSM29147PTCH1skin,NS,carcinoma,basal cell carcinoma3
7COSM29348PTCH1skin,NS,carcinoma,basal cell carcinoma3
8COSM29348PTCH1skin,NS,carcinoma,basal cell carcinoma3
9COSM29348PTCH1skin,NS,carcinoma,basal cell carcinoma3
10COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
11COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
12COSM29061PTCH1skin,NS,carcinoma,basal cell carcinoma3
13COSM29061PTCH1skin,NS,carcinoma,basal cell carcinoma3
14COSM29057PTCH1skin,NS,carcinoma,basal cell carcinoma3
15COSM29057PTCH1skin,NS,carcinoma,basal cell carcinoma3
16COSM29062PTCH1skin,NS,carcinoma,basal cell carcinoma3
17COSM29062PTCH1skin,NS,carcinoma,basal cell carcinoma3
18COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
19COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
20COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
21COSM29349PTCH1skin,NS,carcinoma,basal cell carcinoma3
22COSM29349PTCH1skin,NS,carcinoma,basal cell carcinoma3
23COSM96959PTCH1skin,NS,carcinoma,basal cell carcinoma3
24COSM96959PTCH1skin,NS,carcinoma,basal cell carcinoma3
25COSM96959PTCH1skin,NS,carcinoma,basal cell carcinoma3
26COSM96958PTCH1skin,NS,carcinoma,basal cell carcinoma3
27COSM96960PTCH1skin,NS,carcinoma,basal cell carcinoma3
28COSM96960PTCH1skin,NS,carcinoma,basal cell carcinoma3
29COSM96963PTCH1skin,NS,carcinoma,basal cell carcinoma3
30COSM96963PTCH1skin,NS,carcinoma,basal cell carcinoma3
31COSM96960PTCH1skin,NS,carcinoma,basal cell carcinoma3
32COSM96958PTCH1skin,NS,carcinoma,basal cell carcinoma3
33COSM96958PTCH1skin,NS,carcinoma,basal cell carcinoma3
34COSM29349PTCH1skin,NS,carcinoma,basal cell carcinoma3
35COSM29349PTCH1skin,NS,carcinoma,basal cell carcinoma3
36COSM29349PTCH1skin,NS,carcinoma,basal cell carcinoma3
37COSM29349PTCH1skin,NS,carcinoma,basal cell carcinoma3
38COSM96936PTCH1skin,NS,carcinoma,basal cell carcinoma3
39COSM96936PTCH1skin,NS,carcinoma,basal cell carcinoma3
40COSM96957PTCH1skin,NS,carcinoma,basal cell carcinoma3
41COSM96957PTCH1skin,NS,carcinoma,basal cell carcinoma3
42COSM96957PTCH1skin,NS,carcinoma,basal cell carcinoma3
43COSM29055PTCH1skin,NS,carcinoma,basal cell carcinoma3
44COSM29055PTCH1skin,NS,carcinoma,basal cell carcinoma3
45COSM26377PTCH1skin,NS,carcinoma,basal cell carcinoma3
46COSM26377PTCH1skin,NS,carcinoma,basal cell carcinoma3
47COSM26377PTCH1skin,NS,carcinoma,basal cell carcinoma3
48COSM26373PTCH1skin,NS,carcinoma,basal cell carcinoma3
49COSM26378PTCH1skin,NS,carcinoma,basal cell carcinoma3
50COSM26378PTCH1skin,NS,carcinoma,basal cell carcinoma3

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 15)
idSuper pathwaysScoreTop Affiliating Genes
19.9PTCH1, SHH
29.6PTCH1, SHH, SMO
39.2BMPR1A, GLI3, PTCH1
4
Show member pathways
8.9DHH, PTCH1, PTCH2, SHH, SMO
58.8GLI1, GLI2, PTCH1, SHH, SMO
6
Show member pathways
8.1DHH, GAS1, GLI2, PTCH1, PTCH2, SHH
78.0GLI1, GLI2, GLI3, PTCH1, SHH, SMO
8
Show member pathways
8.0DHH, GAS1, GLI1, PTCH1, PTCH2, ROR2
97.7GLI1, GLI2, GLI3, PTCH1, PTCH2, SHH
10
Show member pathways
7.6DHH, GLI1, GLI2, GLI3, PTCH1, PTCH2
11
Show member pathways
7.4BMPR1A, DHH, GAS1, GLI1, PTCH1, PTCH2
12
Show member pathways
7.0DHH, GAS1, GLI1, GLI2, GLI3, PTCH1
13
Show member pathways
6.7DHH, GAS1, GLI1, GLI2, GLI3, PTCH1
14
Show member pathways
6.6DHH, GAS1, GLI1, GLI2, GLI3, KIF7
15
Show member pathways
5.6BMPR1A, DHH, GAS1, GLI1, GLI2, GLI3

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
1caveolaGO:00059019.9PTCH1, SMO
2Golgi apparatusGO:00057949.6PTCH1, SMO
3axonemeGO:00059309.3GLI1, GLI2, GLI3
4ciliary tipGO:00975428.8GLI1, KIF7, SMO, SUFU

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

(show top 50)    (show all 67)
idNameGO IDScoreTop Affiliating Genes
1mammary gland epithelial cell differentiationGO:006064410.5PTCH1, SMO
2cellular response to cholesterolGO:007139710.5PTCH1, SMO
3positive regulation of hh target transcription factor activityGO:000722810.5SHH, SMO
4determination of left/right asymmetry in lateral mesodermGO:000314010.5SHH, SMO
5smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:002193810.5GLI2, SMO
6positive regulation of T cell differentiation in thymusGO:003308910.4GLI2, SHH
7epithelial-mesenchymal cell signalingGO:006068410.4SHH, SMO
8anatomical structure developmentGO:004885610.4GLI2, SHH
9cell differentiation involved in kidney developmentGO:006100510.4GLI3, PTCH1
10mammary gland duct morphogenesisGO:006060310.4GLI2, PTCH1
11smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:002177510.4GLI3, SUFU
12negative regulation of alpha-beta T cell differentiationGO:004663910.3GLI3, SHH
13embryonic morphogenesisGO:004859810.3GLI3, SHH
14negative thymic T cell selectionGO:004506010.2GLI3, SHH
15ectoderm developmentGO:000739810.2BMPR1A, SHH
16artery developmentGO:006084010.2GLI3, SHH
17neuron fate commitmentGO:004866310.2GLI3, SHH
18embryonic digestive tract morphogenesisGO:004855710.2GLI3, SHH
19somite developmentGO:006105310.1PTCH1, SHH, SMO
20negative regulation of smoothened signaling pathwayGO:004587910.1GLI3, PTCH1, SUFU
21embryonic organ developmentGO:004856810.1PTCH1, SHH, SMO
22cell fate determinationGO:000170910.1PTCH1, PTCH2
23embryonic digestive tract developmentGO:004856610.1GLI2, GLI3
24heart loopingGO:000194710.0SHH, SMO, SUFU
25cerebellar cortex morphogenesisGO:002169610.0GLI1, GLI2, SMO
26dorsal/ventral neural tube patterningGO:002190410.0GLI2, SHH, SMO
27cell fate commitmentGO:004516510.0GAS1, ROR2, SHH
28spinal cord dorsal/ventral patterningGO:002151310.0GLI2, GLI3, SUFU
29determination of left/right symmetryGO:000736810.0SHH, SMO, SUFU
30spinal cord motor neuron differentiationGO:00215229.9GLI2, GLI3, PTCH1
31central nervous system developmentGO:00074179.8GLI3, SHH, SMO
32positive regulation of protein import into nucleusGO:00423079.7GLI3, SHH, SMO
33regulation of smoothened signaling pathwayGO:00085899.7GAS1, GLI1, GLI2, PTCH1
34mammary gland developmentGO:00308799.6GLI2, GLI3, PTCH1
35kidney developmentGO:00018229.6GLI2, GLI3, SHH
36branching morphogenesis of an epithelial tubeGO:00487549.5GLI2, GLI3, SHH
37positive regulation of smoothened signaling pathwayGO:00458809.5GLI1, SHH, SMO
38proximal/distal pattern formationGO:00099549.4GLI1, GLI2, GLI3
39positive regulation of neuroblast proliferationGO:00020529.3GLI3, SHH, SMO
40odontogenesis of dentin-containing toothGO:00424759.1BMPR1A, GLI2, SHH, SMO
41smoothened signaling pathwayGO:00072248.9GLI1, GLI2, GLI3, ROR2, SHH
42pattern specification processGO:00073898.9BMPR1A, GLI2, PTCH1, SHH, SMO
43embryonic digit morphogenesisGO:00427338.9BMPR1A, GLI2, GLI3, ROR2, SHH
44in utero embryonic developmentGO:00017018.9BMPR1A, GLI2, GLI3, PTCH1, SMO
45anterior/posterior pattern specificationGO:00099528.8BMPR1A, GLI2, GLI3, SHH, SMO
46dorsal/ventral pattern formationGO:00099538.8BMPR1A, GLI1, GLI2, PTCH1, SHH, SMO
47negative regulation of transcription from RNA polymerase II promoterGO:00001228.6GLI2, GLI3, SHH, SMO, SUFU
48developmental growthGO:00485898.6BMPR1A, GAS1, GLI2, GLI3, SHH, SMO
49positive regulation of transcription, DNA-templatedGO:00458938.1BMPR1A, GLI1, GLI2, GLI3, ROR2, SHH
50positive regulation of transcription from RNA polymerase II promoterGO:00459447.7BMPR1A, GLI1, GLI2, GLI3, SHH, SMO

Sources for Basal Cell Nevus Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet