MCID: CRZ001
MIFTS: 70

Crouzon Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Crouzon Syndrome

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Aliases & Descriptions for Crouzon Syndrome:

Name: Crouzon Syndrome 50 33 11 69 46 23 24 13 68 12 48
Crouzon Craniofacial Dysostosis 46 23 24 52 68
Craniofacial Dysostosis 11 24 37
Craniofacial Dysostosis Type 1 46 66
Craniofacial Dysostosis Type I 23 68
Crouzon's Disease 11 24
Crouzons Disease 24 25
 
Crouzon Disease 46 52
Cfd1 46 68
Craniofacial Dysostosis, Type 1; Cfd1 24
Craniofacial Dysostosis Syndrome 24
Craniofacial Dysarthrosis 24
Cs 68

Characteristics:

Orphanet epidemiological data:

52
crouzon craniofacial dysostosis:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
crouzon syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 123500
Disease Ontology11 DOID:2339
ICD1028 Q75.1
MeSH37 D003394
SNOMED-CT60 28861008
NCIt43 C84653
Orphanet52 ORPHA207
ICD10 via Orphanet29 Q75.1

Summaries for Crouzon Syndrome

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NIH Rare Diseases:46 Crouzon syndrome is a disorder characterized by early fusion of certain skull bones (craniosynostosis). this prevents normal growth of the skull, which can affect the shape of the head and face. signs and symptoms of crouzon syndrome may include wide-set, bulging eyes; strabismus (misalignment of the eyes); a small, "beak-shaped" nose; and an underdeveloped upper jaw. other features may include dental problems, hearing loss, and/or cleft lip and palate. the severity of signs and symptoms can vary among affected people, even within a family. intelligence is usually normal, but intellectual disability may be present. crouzon syndrome is caused by changes (mutations) in the fgfr2 gene and is inherited in an autosomal dominant manner. treatment may involve surgeries to prevent complications, improve function, and aid in healthy psychosocial development. last updated: 6/8/2016

MalaCards based summary: Crouzon Syndrome, also known as crouzon craniofacial dysostosis, is related to crouzon syndrome with acanthosis nigricans and apert syndrome, and has symptoms including high forehead, craniosynostosis and abnormal facial shape. An important gene associated with Crouzon Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways are Angiogenesis (WikiPathways) and Syndecan-4-mediated signaling events. Affiliated tissues include bone, eye and skin, and related mouse phenotypes are hearing/vestibular/ear and neoplasm.

Disease Ontology:11 A craniosynostosis that involves premature fusion of certain skull bones. this early fusion prevents the skull from growing normally and affects the shape of the head and face. the disease is associated with mutations in the fgfr2 gene.

Genetics Home Reference:24 Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

OMIM:50 Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of... (123500) more...

UniProtKB/Swiss-Prot:68 Crouzon syndrome: An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.

Wikipedia:69 Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome.... more...

Related Diseases for Crouzon Syndrome

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Diseases related to Crouzon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1crouzon syndrome with acanthosis nigricans34.3FGFR2, FGFR3
2apert syndrome30.8FGFR2, FGFR3
3jackson-weiss syndrome29.9FGFR1, FGFR2, FGFR3
4hypertrophic cardiomyopathy29.8FGFR1, FGFR2, FGFR3
5craniofacial dysostosis with diaphyseal hyperplasia12.1
6craniofacial dysostosis arthrogryposis progeroid appearence12.0
7gorlin-chaudhry-moss syndrome11.5
8cockayne syndrome11.5
9xeroderma pigmentosum, group d11.4
10cowden syndrome 111.3
11xeroderma pigmentosum, group b11.2
12xeroderma pigmentosum, group g11.2
13xeroderma pigmentosum, group f11.2
14cowden disease11.0
15diabetes mellitus, noninsulin-dependent11.0
16cerebral creatine deficiency syndrome 211.0
17x-linked sideroblastic anemia with ataxia11.0
18cerebral creatine deficiency syndrome11.0
19carnitine palmitoyltransferase ii deficiency11.0
20bartonellosis11.0
21cat-scratch disease11.0
22critical illness polyneuropathy11.0
23leber hereditary optic neuropathy11.0
24idiopathic inflammatory myopathy11.0
25mitochondrial cardiomyopathy11.0
26craniofacial dyssynostosis11.0
27c syndrome10.9
28xeroderma pigmentosum-cockayne syndrome complex10.9
29mite infestation10.6FGFR2, FGFR3
30accommodative esotropia10.5FGFR2, FGFR3
31silver-russell syndrome due to 7p11.2p13 microduplication10.5BMP6, FGF2
32thrombocytosis10.5FGF2, TGFB1
33pericardial mesothelioma10.5FGF2, TGFB1
34pfn1-related amyotrophic lateral sclerosis10.5FGFR1, FGFR2
35scrotum paget's disease10.5FGF2, TGFB1
36uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis10.4FGFR1, FGFR2
37scleredema adultorum10.4FGFR2, FGFR3
38hypohidrosis10.4BMP6, TGFB1
39strawberry gallbladder10.4BMP6, TGFB1
40hypereosinophilic syndrome, idiopathic, resistant to imatinib10.4BMP6, FGF2
41vitreous abscess10.4FGF2, TGFB1
42cockayne syndrome, type a10.3
43weill-marchesani syndrome10.3FGFR1, FGFR2
44acanthosis nigricans10.3
45mild phosphoribosylpyrophosphate synthetase superactivity10.3FGFR3, TGFB1
46nail disorder, nonsyndromic congenital, 110.3FGF2, FGFR1
47glaucomatocyclitic crisis10.3FGFR2, FGFR3, TGFB1
48grade iii astrocytoma10.2FGFR1, FGFR3
49flnb-related disorders10.2FGFR1, FGFR2, FGFR3
50plasmalogens synthesis deficiency isolated10.2FGFR1, FGFR2, FGFR3

Graphical network of the top 20 diseases related to Crouzon Syndrome:



Diseases related to crouzon syndrome

Symptoms for Crouzon Syndrome

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Symptoms by clinical synopsis from OMIM:

123500

Clinical features from OMIM:

123500

Symptoms:

 52 (show all 33)
  • narrow palate
  • hydrocephalus
  • brachycephaly
  • turricephaly
  • hypertelorism
  • hypoplasia of the maxilla
  • high forehead
  • hearing impairment
  • conductive hearing impairment
  • convex nasal ridge
  • choanal atresia
  • strabismus
  • ptosis
  • conjunctivitis
  • proptosis
  • iris coloboma
  • amblyopia
  • optic atrophy
  • abnormality of the skull
  • acanthosis nigricans
  • melanocytic nevus
  • hypopigmented skin patches
  • cerebellar hypoplasia
  • abnormal facial shape
  • frontal bossing
  • respiratory insufficiency
  • arnold-chiari malformation
  • headache
  • increased intracranial pressure
  • abnormality of the sacrum
  • multiple suture craniosynostosis
  • narrow internal auditory canal
  • midface retrusion

HPO human phenotypes related to Crouzon Syndrome:

(show all 47)
id Description Frequency HPO Source Accession
1 high forehead hallmark (90%) HP:0000348
2 craniosynostosis hallmark (90%) HP:0001363
3 abnormal facial shape hallmark (90%) HP:0001999
4 frontal bossing hallmark (90%) HP:0002007
5 hypertelorism typical (50%) HP:0000316
6 conductive hearing impairment typical (50%) HP:0000405
7 strabismus typical (50%) HP:0000486
8 ptosis typical (50%) HP:0000508
9 arnold-chiari malformation typical (50%) HP:0002308
10 increased intracranial pressure typical (50%) HP:0002516
11 abnormality of the palate occasional (7.5%) HP:0000174
12 hydrocephalus occasional (7.5%) HP:0000238
13 atresia of the external auditory canal occasional (7.5%) HP:0000413
14 convex nasal ridge occasional (7.5%) HP:0000444
15 choanal atresia occasional (7.5%) HP:0000453
16 visual impairment occasional (7.5%) HP:0000505
17 iris coloboma occasional (7.5%) HP:0000612
18 optic atrophy occasional (7.5%) HP:0000648
19 acanthosis nigricans occasional (7.5%) HP:0000956
20 melanocytic nevus occasional (7.5%) HP:0000995
21 hypopigmented skin patches occasional (7.5%) HP:0001053
22 migraine occasional (7.5%) HP:0002076
23 respiratory insufficiency occasional (7.5%) HP:0002093
24 abnormality of the sacrum occasional (7.5%) HP:0005107
25 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
26 brachycephaly HP:0000248
27 mandibular prognathia HP:0000303
28 hypertelorism HP:0000316
29 hypoplasia of the maxilla HP:0000327
30 conductive hearing impairment HP:0000405
31 atresia of the external auditory canal HP:0000413
32 strabismus HP:0000486
33 visual impairment HP:0000505
34 conjunctivitis HP:0000509
35 shallow orbits HP:0000586
36 optic atrophy HP:0000648
37 dental crowding HP:0000678
38 intellectual disability HP:0001249
39 seizures HP:0001250
40 abnormality of the nasopharynx HP:0001739
41 frontal bossing HP:0002007
42 abnormality of the cervical spine HP:0003319
43 craniofacial dysostosis HP:0004439
44 coronal craniosynostosis HP:0004440
45 sagittal craniosynostosis HP:0004442
46 lambdoidal craniosynostosis HP:0004443
47 sleep apnea HP:0010535

UMLS symptoms related to Crouzon Syndrome:


seizures, frequent headache

Drugs & Therapeutics for Crouzon Syndrome

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Drugs for Crouzon Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tranexamic AcidPhase 4, Phase 32411197-18-85526
Synonyms:
08455_FLUKA
1197-17-7
1197-18-8
1ceb
3-14-00-00868 (Beilstein Handbook Reference)
4-(Aminomethyl)-Cyclohexanecarboxylic Acid
4-(Aminomethyl)cyclohexanecarboxylic acid
4-(aminomethyl)cyclohexane-1-carboxylic acid
857653_ALDRICH
A0236
AB00052260
AB1003647
AC-4687
AC1L1KJH
AC1Q50F3
AC1Q546D
AC1Q5U04
ALBB-006013
AMCA
AMCHA
AMH
AR-1F6595
Acide tranexamique
Acide tranexamique [INN-French]
Acido tranexamico
Acido tranexamico [INN-Spanish]
Acidum tranexamicum
Acidum tranexamicum [INN-Latin]
Amikapron
Amstat
Anvitoff
BAY 3517
BPBio1_000069
BRN 2207452
BSPBio_000061
BSPBio_002837
CAS-1197-18-8
CHEBI:48669
CHEMBL292500
CHEMBL877
CID5526
CL 65336
CL-65336
Carxamin
Cyclocapron
Cyklokapron
Cyklokapron (TN)
D01136
DB00302
DV 79
DV-79
DV79
DivK1c_000655
EINECS 214-818-2
Emorhalt
Exacyl
Frenolyse
HMS1568D03
HMS1921F08
HMS2092P03
HMS502A17
Hexapromin
Hexatron
I04-0993
IDI1_000655
KABI 2161
KBio1_000655
KBio2_001871
KBio2_004439
KBio2_007007
KBio3_002337
KBioGR_000511
 
KBioSS_001871
LS-56611
LS-56612
LT00159441
Mastop
MolPort-001-792-390
MolPort-002-512-008
NCGC00016569-01
NCGC00016569-02
NCGC00016569-03
NCGC00094944-01
NCGC00094944-02
NINDS_000655
NSC 291305
NSC291305
Oprea1_786414
Prestwick0_000171
Prestwick1_000171
Prestwick2_000171
Prestwick3_000171
Prestwick_476
RP 18,429
Rikavarin
Rikavarin (TN)
Rikavarin-S
SPBio_000689
SPBio_001982
SPECTRUM1502026
STK503668
STOCK1N-16183
Spectrum2_000655
Spectrum3_001189
Spectrum4_000046
Spectrum5_001258
Spectrum_001391
Spiramin
Tamcha
Tranex
Tranexamate
Tranexamic acid (JP15/USAN/INN)
Tranexamic acid [USAN:INN:BAN:JAN]
Tranexamic acid cis-form
Tranexamsaeure
Tranexan
Tranexmic acid
Tranhexamic acid
Trans AMCHA
Trans-1-(Aminomethyl)cyclohexane-4-carboxylic acid
Trans-4-(Aminomethyl)-1-cyclohexanecarboxylic acid
Trans-p-(Aminomethyl)cyclohexanecarboxylic
Transamin
Transamin (TN)
Transamlon
Trasamlon
UNII-6T84R30KC1
Ugurol
WLN: L6TJ AVQ D1Z -T
cis-4-(Aminomethyl)cyclohexanecarboxylic acid
cis-4-Aminomethylcyclohexane-1-carboxylic acid
cis-AMCHA
t-AMCHA
tranexamic acid
tranexmic acid
trans-1-Aminomethylcyclohexane-4-carboxylic acid
trans-4-(Aminomethyl)cyclohexane-1-carboxylic acid
trans-4-(Aminomethyl)cyclohexane-carboxylic acid
trans-4-(Aminomethyl)cyclohexanecarboxylic acid
trans-4-(Aminomethyl)cyclohexanecarboxylic acid ester
trans-4-Aminomethylcyclohexane-1-carboxylic acid
trans-4-aminomethylcyclohexane-1-carboxylic acid
trans-Amcha
trans-Tranexamic acid
trans-p-(Aminomethyl)cyclohexanecarboxylic acid
2
PaclitaxelPhase 2269133069-62-436314
Synonyms:
(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester
12-benzoate, 9-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
157069-30-2
33069-62-4
5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
7,11-Methano-1H-cyclodeca[3,4]benz[1,2-b]oxete, benzenepropanoic acid deriv.
7,11-Methano-5H-cyclodeca[3,4]benz[1,2-b]oxete,benzenepropanoic acid deriv.
7-Epi-Paclitaxel
7-Epi-Taxol
7-Epipaclitaxel
7-Epitaxol
7-epi-Paclitaxel
7-epi-Taxol
AB00513812
ABI 007
ABI-007
ABI007
AC-675
AC1L1IOG
AC1L1VJI
AC1L9AVF
ACon1_002231
ANX-513
Abraxane
Abraxane (TN)
Abraxane I.V. Suspension
Abraxis BioScience brand of albumin-bound paclitaxel
Ambotz33069-62-4
Anzatax
Asotax
BIDD:PXR0046
BMS 181339-01
BMS-181339
BMS-181339-01
BPBio1_000320
BRD-A23723433-001-01-2
BRD-A28746609-001-04-0
BRD-K62008436-001-03-1
BSPBio_000290
BSPBio_001152
BSPBio_002614
Bio-0076
Bio1_000362
Bio1_000851
Bio1_001340
Bio2_000416
Bio2_000896
Bristaxol
C07394
C466458
C47H51NO14
CCRIS 8143
CHEBI:103439
CHEBI:45863
CHEMBL100910
CHEMBL418410
CHEMBL48
CID36314
CID441276
CID4666
CID6713921
CID6915727
CPD-8718
Capxol
D00491
DB01229
DHP-107
DHP-208
DRG-0190
DTS-301
DivK1c_000441
EU-0101201
Ebetaxel
EmPAC
Epitaxol
Genaxol
Genetaxyl
Genexol
Genexol-PM
HMS1362J13
HMS1568O12
HMS1792J13
HMS1922K08
HMS1990J13
HMS2090D07
HMS2093K15
HMS501G03
HSDB 6839
I06-0014
IDI1_000441
IDI1_002171
Intaxel
KBio1_000441
KBio2_000492
KBio2_002016
KBio2_002509
KBio2_003060
KBio2_004584
KBio2_005077
KBio2_005628
KBio2_007152
KBio2_007645
KBio3_000903
KBio3_000904
KBio3_001834
KBio3_002987
KBioGR_000492
KBioGR_001893
 
KBioGR_002509
KBioSS_000492
KBioSS_002016
KBioSS_002517
LMPR0104390001
LS-31070
LipoPac
Lopac0_001201
MBT 0206
MEGxp0_001940
MLS000863266
MLS001077297
MLS002154218
MLS002172439
MLS002695976
MPI-5018
Micellar Paclitaxel
Mitotax
MolPort-001-742-627
MolPort-003-665-783
MolPort-003-932-365
NCGC00024995-02
NCGC00024995-03
NCGC00024995-04
NCGC00024995-05
NCGC00024995-06
NCGC00024995-07
NCGC00164367-01
NCGC00164367-02
NCGC00164367-03
NCI60_000601
NINDS_000441
NK 105
NP-010981
NSC 125973
NSC-125973
NSC125973
NSC358882
Nanotaxel
Neuro_000060
Nova-12005
OAS-PAC-100
OncoGel
Onxal
Onxol
Onxol, Taxol, Nov-Onxol, Paclitaxel
P1632
Paclical
Pacligel
Paclitaxel
Paclitaxel (JAN/USP)
Paclitaxel (JAN/USP/INN)
Paclitaxel (Taxol)
Paclitaxel [USAN:INN:BAN]
Paxceed
Paxene
Paxoral
Plaxicel
Praxel
Prestwick0_000155
Prestwick1_000155
Prestwick2_000155
Prestwick3_000155
Probes2_000350
QW 8184
S-8184 Paclitaxel Injectable Emulsion
S1150_Selleck
SDCCGMLS-0066823.P001
SDP-013
SMP1_000228
SMR000394086
SMR000857385
SPBio_000943
SPBio_002229
SPECTRUM1503908
ST50306996
Spectrum2_000872
Spectrum3_001057
Spectrum4_001197
Spectrum5_001491
Spectrum_001536
T 7402
T1912_SIGMA
T7191_SIGMA
T7402_SIGMA
TA1
TAXOL (TN)
TAXOL, 10-EPI,
TXL
TaxAlbin
Taxol
Taxol A
Taxol Konzentrat
Taxol.RTM. (Registered Trademark)
UNII-P88XT4IS4D
UPCMLD-DP108:001
UPCMLD-DP108:002
Vascular Wrap
Xorane
Yewtaxan
abi-007
albumin-bound paclitaxel
cMAP_000068
nab-paclitaxel
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
3
Valproic AcidPhase 231899-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propyl-pentanoic acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VPA
Valcote
Valparin
Valproate
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
acide valproïque
acidum valproicum
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
ácido valproico
4
Aminocaproic AcidPhase 2, Phase 12660-32-2564
Synonyms:
.epsilon. S
.epsilon.-Aminocaproic acid
.epsilon.-Aminohexanoic acid
.epsilon.-Leucine
.epsilon.-Norleucine
.omega.-Aminocaproic acid
.omega.-Aminohexanoic acid
1319-82-0
177 J.D
177 J.D.
1cea
3kiv
6 Aminocaproic Acid
6 Aminohexanoic Acid
6-Amino-Hexanoate
6-Amino-Hexanoic acid
6-Amino-N-hexanoate
6-Amino-N-hexanoic acid
6-Amino-n-hexanoic acid
6-Aminocaproate
6-Aminocaproic acid
6-Aminohexanoate
6-Aminohexanoic acid
6-amino-hexanoic acid
6-amino-n-caproate
6-amino-n-caproic acid
6-aminohexanoate
6-aminohexanoic acid
60-32-2
87867-96-7
93208-38-9
A 7824
A0312
A2504_SIGMA
A7824_SIGMA
AB00051911
AC-035
AC1L19IP
AC1Q54EY
ACS
AI3-14512
AKOS000118734
AMICAR
AMINOCAPROIC
Acepramin
Acepramine
Acid, 6-Aminocaproic
Acid, 6-Aminohexanoic
Acid, epsilon-Aminocaproic
Acide aminocaproique
Acide aminocaproique [French]
Acide aminocaproique [INN-French]
Acide aminocaproque
Acide aminocaproïque
Acido aminocaproico
Acido aminocaproico [DCIT,Spanish]
Acido aminocaproico [INN-Spanish]
Acidum Aminocaproicum
Acidum aminocaproicum
Acidum aminocaproicum [INN-Latin]
Acidum aminocaproicum [Latin]
Acikaprin
Afibrin
Ahx
Amicar
Amicar (TN)
Amicar, |A-amino caproic acid, |A-Ahx, 6-aminohexanoic acid, Aminocaproic acid
Amikar
Aminocaproate
Aminocaproic
Aminocaproic Acid In Plastic Container
Aminocaproic Acids
Aminocaproic acid
Aminocaproic acid (USP)
Aminocaproic acid (USP/INN)
Aminocaproic acid [USAN:BAN:INN]
Aminocaproic acid [USAN:INN:BAN]
Aminocapronsäure
Aminohexanoic acid
Aminokapron
Atsemin
BIDD:GT0162
BPBio1_001056
BRN 0906872
BSPBio_000960
C02378
C3BDD377-8F43-4BEC-900A-D5850050BA82
C6H13NO2
CAS-60-32-2
CBDivE_004370
CCRIS 7706
CHEBI:16586
CHEMBL1046
CID564
CL 10304
CL-10304
CY 116
CY-116
CY116
Caplamin
Capracid
Capralense
Capramol
Capranol
Caproamin
Caprocid
Caprolisin
D00160
D015119
DB00513
DB04134
DivK1c_000551
EACA
EACS
EINECS 200-469-3
EPSILON-AMINOCAPROIC ACID
EU-0100082
Eaca
Eaca kabi
Epsamon
 
Epsicaprom
Epsicapron
Epsikapron
Epsilcapramin
Epsilcapramine
Epsillon-Aminocaproate
Epsillon-Aminocaproic acid
Epsillon-Aminocaproic acid' Epsilcapramin
Epsilon S
Epsilon-Aminocaproic Acid
Epsilon-Aminocapronsaeure
Epsilon-aminocapronzuur
H-6-Ahx-OH
H-EAhx-OH
H-epsilon-Acp-OH
HEXANOIC ACID,6-AMINO
HMS1570P22
HMS1920C07
HMS2091I07
HMS501L13
HSDB 3005
Hemocaprol
Hemopar
Hepin
IDI1_000551
InChI=1/C6H13NO2/c7-5-3-1-2-4-6(8)9/h1-5,7H2,(H,8,9
Ipsilon
JD 177
KBio1_000551
KBio2_000398
KBio2_002966
KBio2_005534
KBioGR_000586
KBioSS_000398
Kyselina omega-aminokapronova
Kyselina omega-aminokapronova [Czech]
LMFA01100035
LS-7191
Lopac-A-7824
Lopac0_000082
MLS001335991
MLS002695931
MolPort-001-779-881
NCGC00015092-01
NCGC00015092-02
NCGC00015092-03
NCGC00015092-07
NCGC00093587-01
NCGC00093587-02
NCGC00093587-03
NCGC00093587-04
NINDS_000551
NSC 26154
NSC 400230
NSC-26154
NSC212532
NSC26154
NSC400230
Omega-Aminocaproate
Omega-Aminocaproic acid
Omega-Aminohexanoate
Omega-Aminohexanoic acid
Prestwick0_000960
Prestwick1_000960
Prestwick2_000960
Prestwick3_000960
Respramin
S04-0132
S1671_Selleck
SMR000059162
SPBio_000202
SPBio_003109
SPECTRUM1500114
STK246894
Spectrum2_000131
Spectrum4_000143
Spectrum5_000780
Spectrum_000038
TL8003819
UNII-U6F3787206
WLN: Z5VQ
Z
acide aminocaproque
amicar
bmse000394
e-Amino-N-hexanoate
e-Amino-N-hexanoic acid
e-Aminocaproate
e-Aminocaproic acid
e-Aminocaproic acid USP
e-Aminohexanoate
e-Aminohexanoic acid
e-Leucine
e-Norleucine
epsilcapramine
epsilon Aminocaproic Acid
epsilon S
epsilon-Ahx
epsilon-Amino-N-hexanoate
epsilon-Amino-N-hexanoic acid
epsilon-Amino-n-caproic acid
epsilon-Amino-n-hexanoic acid
epsilon-Aminocaproate
epsilon-Aminocaproic acid
epsilon-Aminocaproic acid (JAN)
epsilon-Aminocaproic acid USP
epsilon-Aminohexanoate
epsilon-Aminohexanoic acid
epsilon-Leucine
epsilon-Norleucine
epsilon-S
epsilon-aminocaproate
nchembio.104-comp21
nchembio.2007.30-comp14
omega-Aminocaproic acid
omega-Aminohexanoic acid
w-Aminocaproate
w-Aminocaproic acid
w-Aminohexanoate
w-Aminohexanoic acid
Ácido aminocapróico
5
SimvastatinPhase 250379902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
6
BenzocainePhase 1, Phase 217941994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
7PONATINIB Phase 2
8
ponatinibPhase 230943319-70-824826799
Synonyms:
AP 24534
AP24534
 
Iclusig
Ponatinibum
ponatinib
9tannic acidNutraceuticalPhase 1, Phase 21794
10tyrosineNutraceuticalPhase 1, Phase 2633
11
bilirubin107635-65-45280352
Synonyms:
(4Z,15Z)-Bilirubin IXa
(Z,Z)-Bilirubin IXa
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionate
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionic acid
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoate
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoic acid
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoate
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoic acid
 
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-[(Z)-(3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl]-1H-pyrrol-2-yl)methyl)-4-methyl-5-[(Z)-(4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
Bilirubin
Bilirubin IX-alpha
Cholerythrin
Hematoidin
12
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
13
Adenosine38858-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5

Interventional clinical trials:

(show top 50)    (show all 53)
idNameStatusNCT IDPhase
1The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis SurgeryRecruitingNCT02188576Phase 4
2Tranexamic Acid for Craniofacial SurgeryTerminatedNCT00722436Phase 4
3Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects.WithdrawnNCT01006148Phase 4
4Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic AcidRecruitingNCT01094977Phase 3
5Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative CellsCompletedNCT01674439Phase 2
6Treatment of the Cholesterol Defect in Smith-Lemli-Opitz SyndromeCompletedNCT00272844Phase 1, Phase 2
7Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz SyndromeCompletedNCT00114634Phase 2
8Prenatal Screening For Smith-Lemli-Opitz SyndromeCompletedNCT00070850Phase 2
9Simvastatin Therapy in Smith-Lemli-Opitz SyndromeCompletedNCT00064792Phase 2
10Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic TrialCompletedNCT01619644Phase 2
11A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
12Efficacy and Safety of AZD4547 Versus Paclitaxel in Advanced Gastric or Gastro-oesophageal Junction Cancer PatientsCompletedNCT01457846Phase 2
13Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz SyndromeRecruitingNCT00004347Phase 2
14Efficacy of Amicar for Children Having Craniofacial SurgeryRecruitingNCT02229968Phase 2
15Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic AlterationsRecruitingNCT01752920Phase 1, Phase 2
16Dovitinib for Gastric Cancer With FGFR2 AmplificationRecruitingNCT01719549Phase 2
17Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 FusionsRecruitingNCT02265341Phase 2
18A Phase II, Single Arm Study of BGJ398 in Patients With Advanced CholangiocarcinomaActive, not recruitingNCT02150967Phase 2
19Amicar Pharmacokinetics of Children Having Craniofacial SurgeryCompletedNCT00912119Phase 1
20Phase I, Dose-escalation Trial of BAY1187982 in Subjects With Advanced Solid Tumors Known to Express Fibroblast Growth Factor Receptor 2 (FGFR2)TerminatedNCT02368951Phase 1
21Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African AmericansCompletedNCT00017732
22Child and Infant Learning ProjectCompletedNCT00077831
23Genetic Analysis of Craniosynostosis, Philadelphia TypeCompletedNCT00367796
24Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their CareCompletedNCT02287805
25Effectiveness of Tortle Midliner Positioning System on the Prevention and Treatment of Cranial Molding Deformities in Preterm InfantsCompletedNCT02366936
26Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled TrialCompletedNCT02180321
27Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary ResultsCompletedNCT01672619
28Study of Quality of Life in Freeman-Sheldon Syndrome and Related ConditionsRecruitingNCT01307475
29Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon SyndromeRecruitingNCT01144741
30Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related ConditionsRecruitingNCT01306994
31Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677
32Natural History of Craniofacial Anomalies and Developmental Growth VariantsRecruitingNCT02639312
33Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)RecruitingNCT01773278
34Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)RecruitingNCT01630460
35SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol SupplementationRecruitingNCT01434745
36Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz SyndromeRecruitingNCT01356420
37Study of Smith-Lemli-Opitz SyndromeRecruitingNCT00001721
38MRI for Non-invasive Evaluation of Brain StressRecruitingNCT01898650
39Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
40Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis RepairRecruitingNCT02483702
41Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 GeneRecruitingNCT01962129
42UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998
43Osteogenic Profiling of Tissue From Children With CraniosynostosisRecruitingNCT00773643
44Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)RecruitingNCT00106977
45Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224
46Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced OsteomalaciaRecruitingNCT01660308
47National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165
48Role of Mesenchymal Stem Cells in Fat GraftingNot yet recruitingNCT02494752
49The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITUNot yet recruitingNCT01996163
50Cranial Cup Use for the Prevention of Positional Head Shape Deformity in the NICUTerminatedNCT01218087

Search NIH Clinical Center for Crouzon Syndrome


Cochrane evidence based reviews: craniofacial dysostosis

Genetic Tests for Crouzon Syndrome

About this section

Genetic tests related to Crouzon Syndrome:

id Genetic test Affiliating Genes
1 Crouzon Syndrome25 23 FGFR2

Anatomical Context for Crouzon Syndrome

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MalaCards organs/tissues related to Crouzon Syndrome:

34
Bone, Eye, Skin, Brain, Cerebellum, Trachea, Testes

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Crouzon Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 BoneRostral Skull Membranous BonesIntramembrenous Osteocytes Affected by disease

Animal Models for Crouzon Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Crouzon Syndrome:

39 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2FGF2, FGFR1, FGFR2, FGFR3, MSX2
2MP:00020068.7DCN, FGF2, FGFR2, FGFR3, TGFB1
3MP:00053888.6ALX3, DCN, FGFR2, FGFR3, TGFB1
4MP:00053678.4DCN, FGFR1, FGFR2, FGFR3, TGFB1
5MP:00107718.4DCN, FGFR1, FGFR2, FGFR3, MSX2, TGFB1
6MP:00028738.3DCN, ERF, FGFR1, FGFR2, FGFR3, MSX2
7MP:00053698.2DCN, FGF2, FGFR1, FGFR2, MSX2, TGFB1
8MP:00053718.2ALX3, FGFR1, FGFR2, FGFR3, MSX2
9MP:00053808.2ALX3, ERF, FGFR1, FGFR2, MSX2, TGFB1
10MP:00053797.9ALX3, DCN, FGFR1, FGFR2, MSX2, TGFB1
11MP:00053817.7ALX3, DCN, FGFR1, FGFR2, FGFR3, MSX2
12MP:00053977.5DCN, ERF, FGF2, FGFR1, FGFR2, FGFR3
13MP:00053847.5ALX3, DCN, ERF, FGF2, FGFR1, FGFR2
14MP:00053827.5ALX3, DCN, ERF, FGFR1, FGFR2, FGFR3
15MP:00036317.3ALX3, ERF, FGF2, FGFR1, FGFR2, FGFR3
16MP:00053917.2ALX3, DCN, FGF2, FGFR1, FGFR2, FGFR3
17MP:00053897.1ALX3, BMP6, DCN, FGF2, FGFR1, FGFR2
18MP:00053867.0ALX3, DCN, FGF2, FGFR1, FGFR2, FGFR3
19MP:00053767.0ALX3, DCN, ERF, FGF2, FGFR1, FGFR2
20MP:00107686.9ALX3, DCN, ERF, FGF2, FGFR1, FGFR2
21MP:00053786.2ALX3, BMP6, DCN, ERF, FGFR1, FGFR2
22MP:00053905.8ALX3, BMP6, DCN, ERF, FGF2, FGFR1

Publications for Crouzon Syndrome

About this section

Articles related to Crouzon Syndrome:

(show top 50)    (show all 171)
idTitleAuthorsYear
1
The Phenotypes of Spheno-Occipital Synchondrosis in Patients With Crouzon Syndrome. (27391494)
2016
2
Individualized therapy for treating obstructive sleep apnea in pediatric Crouzon syndrome patients. (27424047)
2016
3
Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome. (27430617)
2016
4
Crouzon Syndrome: Visual Diagnosis. (26283152)
2015
5
Crouzon syndrome: Ophthalmologic complications in an untreated adult patient. (26194556)
2015
6
Lumboatrial shunt in a patient with Crouzon syndrome complicated by pseudotumor cerebri. (26021731)
2015
7
Family of Crouzon Syndrome Represents the Evolution of the Frontofacial Monobloc Advancement Technique: From Immediate Movement to Monobloc Distraction to Monobloc Bipartition Distraction. (26267562)
2015
8
A Novel Technique Using Customized Headgear for Fixation of Rigid External Distraction Device in an Infant With Crouzon Syndrome. (26594993)
2015
9
Three-dimensional precise orientation of bilateral auricular trial prosthesis using a facebow for a young adult with Crouzon syndrome. (25096652)
2014
10
Orbitofrontal monobloc advancement for Crouzon syndrome. (24530078)
2014
11
Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome. (24741262)
2014
12
Non surgical treatment of Crouzon syndrome. (25209230)
2014
13
Psychosocial conditions in adults with Crouzon syndrome: a follow-up study of 31 Swedish patients. (24328900)
2013
14
Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene. (23808569)
2013
15
Crouzon syndrome: clinico-radiological illustration of a case. (23393627)
2012
16
Dental agenesis patterns in Crouzon syndrome. (22372307)
2011
17
Long-term stability of LeFort III distraction osteogenesis with a rigid external distraction device in a patient with Crouzon syndrome. (21967944)
2011
18
Meningoencephalocele: a late complication of Le Fort III midfacial advancement in a patient with Crouzon syndrome. (20887111)
2010
19
Growth hormone deficiency in a case of crouzon syndrome with hydrocephalus. (20585360)
2010
20
Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome. (20163525)
2010
21
Diagnosis and evaluation of Crouzon syndrome. (19409168)
2009
22
The value of the maxillo-malar osteotomy in the treatment of Crouzon syndrome with exorbitism. (18724129)
2008
23
Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGFR)-2 gene. (17850625)
2007
24
A cloverleaf skull associated with Crouzon syndrome. (16492963)
2006
25
Mutation analysis of Crouzon syndrome in Taiwanese patients. (16470531)
2006
26
Multidirectional distraction osteogenesis for Crouzon syndrome: technical note. (15617972)
2005
27
Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix. (15915098)
2005
28
Clinically mild, atypical, and aged craniofacial syndrome is diagnosed as Crouzon syndrome by identification of a point mutation in the fibroblast growth factor receptor 2 gene (FGFR2). (15206560)
2004
29
A reflectable case of obstructive sleep apnea in an infant with Crouzon syndrome. (15346037)
2004
30
Recurrence of bacterial meningitis in a patient with Crouzon syndrome and pseudomeningocele. (12144091)
2002
31
Tracheal cartilaginous sleeve in Crouzon syndrome. (12176186)
2002
32
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. (10696568)
2000
33
Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. (10670894)
2000
34
Cephalometric analysis of families with dominantly inherited Crouzon syndrome: an aid to diagnosis in family studies. (9632171)
1998
35
Case report: a surgical and prosthetic approach to combination syndrome presenting in a patient with craniofacial dysostosis (Crouzon syndrome). (9680879)
1998
36
Crouzon syndrome: anomalies not limited to the skull and the face. (9504314)
1997
37
Studies of Crouzon syndrome. (8596806)
1996
38
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. (7773284)
1995
39
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. (7655462)
1995
40
Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter. (8014970)
1994
41
Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. (8188211)
1994
42
Crouzon syndrome: cephalometric analysis and evaluation of pathogenesis. (8068703)
1994
43
Quantitation of craniofacial anomalies in utero: fetal alcohol and Crouzon syndromes and thanatophoric dysplasia. (8418654)
1993
44
Case report: Crouzon syndrome with short stature. (1897553)
1991
45
Surgical correction of Crouzon syndrome. (2304984)
1990
46
Exophthalmus--prenatal ultrasonic features for diagnosis of Crouzon syndrome. (2694154)
1989
47
Germinal mosaicism in Crouzon syndrome. (3359675)
1988
48
Multidisciplinary management of Crouzon syndrome. (379109)
1979
49
Letter: The Crouzon syndrome. (4774834)
1973
50
An autosomal recessive form of craniofacial dysostosis (the Crouzon syndrome). (4697859)
1973

Variations for Crouzon Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Crouzon Syndrome:

68 (show all 37)
id Symbol AA change Variation ID SNP ID
1FGFR2p.Tyr105CysVAR_004112
2FGFR2p.Ser252LeuVAR_004113rs79184941
3FGFR2p.Ser267ProVAR_004118rs121918505
4FGFR2p.Phe276ValVAR_004120
5FGFR2p.Cys278PheVAR_004121rs776587763
6FGFR2p.Gln289ProVAR_004123rs121918497
7FGFR2p.Trp290ArgVAR_004125rs121918501
8FGFR2p.Lys292GluVAR_004126rs121918500
9FGFR2p.Tyr301CysVAR_004127
10FGFR2p.Tyr328CysVAR_004130rs121918493
11FGFR2p.Asn331IleVAR_004131
12FGFR2p.Gly338GluVAR_004133
13FGFR2p.Tyr340HisVAR_004134rs121918489
14FGFR2p.Thr341ProVAR_004135rs121918495
15FGFR2p.Cys342PheVAR_004136
16FGFR2p.Cys342ArgVAR_004137rs121918488
17FGFR2p.Cys342SerVAR_004138rs121918488
18FGFR2p.Cys342TyrVAR_004139rs121918487
19FGFR2p.Ala344GlyVAR_004140rs121918492
20FGFR2p.Ala344ProVAR_004141
21FGFR2p.Ser347CysVAR_004142rs121918494
22FGFR2p.Ser351CysVAR_004143rs121918502
23FGFR2p.Ser354CysVAR_004144rs121918490
24FGFR2p.Val359PheVAR_004146
25FGFR2p.Gly384ArgVAR_004147
26FGFR2p.Gly338ArgVAR_015011
27FGFR2p.Pro263LeuVAR_017261rs779326224
28FGFR2p.Cys278TyrVAR_017263
29FGFR2p.Tyr281CysVAR_017264
30FGFR2p.Ile288SerVAR_017265
31FGFR2p.Trp290GlyVAR_017266rs121918501
32FGFR2p.Ala337ProVAR_017268rs387906676
33FGFR2p.Cys342TrpVAR_017271rs121918496
34FGFR2p.Ser354TyrVAR_017272
35FGFR2p.Ala362SerVAR_017273
36FGFR2p.Asn549HisVAR_017276
37FGFR2p.Arg678GlyVAR_017281

Clinvar genetic disease variations for Crouzon Syndrome:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr)single nucleotide variantPathogenicrs121918487GRCh37Chr 10, 123276892: 123276892
2FGFR2NM_000141.4(FGFR2): c.1018T> C (p.Tyr340His)single nucleotide variantPathogenicrs121918489GRCh37Chr 10, 123276899: 123276899
3FGFR2NM_000141.4(FGFR2): c.1061C> G (p.Ser354Cys)single nucleotide variantPathogenicrs121918490GRCh37Chr 10, 123276856: 123276856
4FGFR2NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
5FGFR2NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
6FGFR2NM_000141.4(FGFR2): c.1032G> A (p.Ala344=)single nucleotide variantPathogenicrs121918491GRCh37Chr 10, 123276885: 123276885
7FGFR2NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly)single nucleotide variantPathogenicrs121918492GRCh37Chr 10, 123276886: 123276886
8FGFR2NM_000141.4(FGFR2): c.983A> G (p.Tyr328Cys)single nucleotide variantPathogenicrs121918493GRCh37Chr 10, 123276934: 123276934
9FGFR2NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys)single nucleotide variantPathogenicrs121918494GRCh37Chr 10, 123276877: 123276877
10FGFR2NM_000141.4(FGFR2): c.1026C> G (p.Cys342Trp)single nucleotide variantPathogenicrs121918496GRCh37Chr 10, 123276891: 123276891
11FGFR2NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro)single nucleotide variantPathogenicrs121918497GRCh37Chr 10, 123279566: 123279566
12FGFR2NM_000141.4(FGFR2): c.874A> G (p.Lys292Glu)single nucleotide variantPathogenicrs121918500GRCh37Chr 10, 123279558: 123279558
13FGFR2NM_000141.4(FGFR2): c.868T> C (p.Trp290Arg)single nucleotide variantPathogenicrs121918501GRCh37Chr 10, 123279564: 123279564
14FGFR2NM_000141.4(FGFR2): c.868T> G (p.Trp290Gly)single nucleotide variantPathogenicrs121918501GRCh37Chr 10, 123279564: 123279564
15FGFR2NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu)single nucleotide variantPathogenicrs121918507GRCh37Chr 10, 123258105: 123258105
16FGFR2NM_000141.4(FGFR2): c.1084+3A> Gsingle nucleotide variantPathogenicrs879253721GRCh37Chr 10, 123276830: 123276830
17FGFR2NM_000141.4(FGFR2): c.1009G> C (p.Ala337Pro)single nucleotide variantPathogenicrs387906676GRCh37Chr 10, 123276908: 123276908

Expression for genes affiliated with Crouzon Syndrome

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Search GEO for disease gene expression data for Crouzon Syndrome.

Pathways for genes affiliated with Crouzon Syndrome

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Pathways related to Crouzon Syndrome according to GeneCards Suite gene sharing:

(show all 46)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8FGF2, FGFR2
29.8FGF2, FGFR1
39.5FGFR1, FGFR2, FGFR3
4
Show member pathways
9.5FGFR1, FGFR2, FGFR3
59.5FGFR1, FGFR2, FGFR3
69.4FGF2, FGFR1, FGFR3
79.2FGF2, FGFR2, TGFB1
8
Show member pathways
9.1FGF2, FGFR1, FGFR2, FGFR3
9
Show member pathways
9.1FGF2, FGFR1, FGFR2, FGFR3
109.1FGF2, FGFR1, TGFB1
11
Show member pathways
9.1FGF2, FGFR1, FGFR2, FGFR3
129.1FGF2, FGFR1, TGFB1
13
Show member pathways
9.1FGF2, FGFR1, FGFR2, FGFR3
14
Show member pathways
9.1FGF2, FGFR1, FGFR2, FGFR3
159.1FGF2, FGFR1, FGFR2, FGFR3
16
Show member pathways
9.1FGF2, FGFR1, FGFR2, FGFR3
17
Show member pathways
9.1FGF2, FGFR1, FGFR2, FGFR3
18
Show member pathways
9.1FGF2, FGFR1, FGFR2, FGFR3
199.1FGF2, FGFR1, FGFR2, FGFR3
209.1FGF2, FGFR1, FGFR2, FGFR3
219.1FGF2, FGFR1, TGFB1
229.1FGF2, FGFR1, FGFR2, FGFR3
239.1FGF2, FGFR1, FGFR2, FGFR3
24
Show member pathways
8.9FGFR1, FGFR2, FGFR3, TGFB1
258.7FGF2, FGFR1, FGFR2, FGFR3, MSX2
268.6DCN, FGF2, FGFR1, TGFB1
278.5FGF2, FGFR1, FGFR2, FGFR3, TGFB1
28
Show member pathways
8.5FGF2, FGFR1, FGFR2, FGFR3, TGFB1
29
Show member pathways
8.5FGF2, FGFR1, FGFR2, FGFR3, TGFB1
30
Show member pathways
8.5FGF2, FGFR1, FGFR2, FGFR3, TGFB1
318.5FGF2, FGFR1, FGFR2, FGFR3, TGFB1
32
Show member pathways
8.5BMP6, DCN, TGFB1
33
Show member pathways
8.0DCN, FGF2, FGFR1, FGFR2, FGFR3, TGFB1
348.0BMP6, FGF2, FGFR1, FGFR3, TGFB1
357.7BMP6, DCN, FGF2, MSX2, TGFB1
36
Show member pathways
7.7BMP6, FGF2, FGFR1, FGFR2, FGFR3, TGFB1
37
Show member pathways
7.7BMP6, FGF2, FGFR1, FGFR2, FGFR3, TGFB1
387.7BMP6, FGF2, FGFR1, FGFR2, FGFR3, TGFB1
39
Show member pathways
7.7BMP6, FGF2, FGFR1, FGFR2, FGFR3, TGFB1
40
Show member pathways
7.7BMP6, FGF2, FGFR1, FGFR2, FGFR3, TGFB1
41
Show member pathways
7.7BMP6, FGF2, FGFR1, FGFR2, FGFR3, TGFB1
42
Show member pathways
7.7BMP6, FGF2, FGFR1, FGFR2, FGFR3, TGFB1
43
Show member pathways
7.7BMP6, FGF2, FGFR1, FGFR2, FGFR3, TGFB1
44
Show member pathways
7.7BMP6, FGF2, FGFR1, FGFR2, FGFR3, TGFB1
45
Show member pathways
7.7BMP6, FGF2, FGFR1, FGFR2, FGFR3, TGFB1
46
Show member pathways
7.7BMP6, FGF2, FGFR1, FGFR2, FGFR3, TGFB1

GO Terms for genes affiliated with Crouzon Syndrome

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Cellular components related to Crouzon Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.0DCN, FGF2, FGFR1, FGFR2, FGFR3, TGFB1

Biological processes related to Crouzon Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 60)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.6FGFR1, FGFR2
2positive regulation of endothelial cell chemotaxis to fibroblast growth factorGO:200054610.5FGF2, FGFR1
3positive regulation of phospholipase C activityGO:001086310.5FGF2, FGFR1
4mesenchymal cell differentiationGO:004876210.5FGFR1, FGFR2
5organ inductionGO:000175910.4FGF2, FGFR1
6outflow tract septum morphogenesisGO:000314810.4FGFR2, MSX2
7branching involved in salivary gland morphogenesisGO:006044510.4FGFR1, FGFR2
8positive regulation of mesenchymal cell proliferationGO:000205310.4FGFR1, FGFR2
9ventricular zone neuroblast divisionGO:002184710.4FGFR1, FGFR2
10odontogenesisGO:004247610.3FGFR2, MSX2
11positive regulation of blood vessel endothelial cell migrationGO:004353610.2FGF2, TGFB1
12endochondral bone growthGO:000341610.2FGFR3, MSX2
13salivary gland morphogenesisGO:000743510.2FGFR1, TGFB1
14hyaluronan catabolic processGO:003021410.1FGF2, TGFB1
15frontal suture morphogenesisGO:006036410.1MSX2, TGFB1
16positive regulation of cardiac muscle cell proliferationGO:006004510.1FGF2, FGFR1, FGFR2
17embryonic hindlimb morphogenesisGO:003511610.1ALX3, MSX2
18positive regulation of phospholipase activityGO:001051810.1FGFR1, FGFR2, FGFR3
19lung-associated mesenchyme developmentGO:006048410.0FGFR1, FGFR2
20protein autophosphorylationGO:004677710.0FGFR1, FGFR2, FGFR3
21negative regulation of blood vessel endothelial cell migrationGO:004353710.0FGF2, TGFB1
22orbitofrontal cortex developmentGO:002176910.0FGFR1, FGFR2
23lung developmentGO:00303249.9FGF2, FGFR1, FGFR2
24positive regulation of MAPK cascadeGO:00434109.9FGFR1, FGFR2, FGFR3
25positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.8FGF2, FGFR3, TGFB1
26phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.8FGF2, FGFR1, FGFR2, FGFR3
27positive regulation of cell divisionGO:00517819.8FGF2, FGFR2, TGFB1
28bone morphogenesisGO:00603499.8FGFR2, FGFR3, MSX2
29animal organ morphogenesisGO:00098879.8DCN, FGF2, FGFR2
30phosphatidylinositol phosphorylationGO:00468549.8FGF2, FGFR1, FGFR2, FGFR3
31regulation of phosphatidylinositol 3-kinase signalingGO:00140669.8FGF2, FGFR1, FGFR2, FGFR3
32endochondral ossificationGO:00019589.7BMP6, FGFR3
33phosphatidylinositol-mediated signalingGO:00480159.7FGF2, FGFR1, FGFR2, FGFR3
34fibroblast growth factor receptor signaling pathwayGO:00085439.7FGF2, FGFR1, FGFR2, FGFR3
35chondrocyte differentiationGO:00020629.7FGFR1, FGFR3, TGFB1
36ureteric bud developmentGO:00016579.6FGFR1, FGFR2, TGFB1
37peptidyl-tyrosine phosphorylationGO:00181089.6FGF2, FGFR1, FGFR2, FGFR3
38positive regulation of ERK1 and ERK2 cascadeGO:00703749.6FGF2, FGFR2, FGFR3
39positive regulation of MAP kinase activityGO:00434069.6FGF2, FGFR1, TGFB1
40positive regulation of SMAD protein import into nucleusGO:00603919.6BMP6, TGFB1
41skeletal system developmentGO:00015019.4BMP6, FGFR1, FGFR3
42positive regulation of GTPase activityGO:00435479.3FGF2, FGFR1, FGFR2, FGFR3
43positive regulation of osteoblast differentiationGO:00456699.3BMP6, FGF2, MSX2
44MAPK cascadeGO:00001659.0FGF2, FGFR1, FGFR2, FGFR3, TGFB1
45positive regulation of epithelial cell proliferationGO:00506798.8BMP6, FGF2, FGFR2, TGFB1
46regulation of apoptotic processGO:00429818.5ALX3, BMP6, MSX2, TGFB1
47wound healingGO:00420608.5DCN, FGF2, MSX2, TGFB1
48positive regulation of cell proliferationGO:00082848.4FGF2, FGFR1, FGFR2, FGFR3, TGFB1
49positive regulation of transcription from RNA polymerase II promoterGO:00459447.6BMP6, DCN, FGF2, FGFR2, TGFB1
50negative regulation of transcription from RNA polymerase II promoterGO:00001227.5BMP6, ERF, FGFR1, FGFR2, MSX2, TGFB1

Molecular functions related to Crouzon Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:000500710.1FGFR1, FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.7FGFR1, FGFR2, FGFR3
31-phosphatidylinositol-3-kinase activityGO:00163039.7FGF2, FGFR1, FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.6FGF2, FGFR1, FGFR2, FGFR3
5heparin bindingGO:00082019.6FGF2, FGFR1, FGFR2
6Ras guanyl-nucleotide exchange factor activityGO:00050889.1FGF2, FGFR1, FGFR2, FGFR3
7protein tyrosine kinase activityGO:00047139.0FGF2, FGFR1, FGFR2, FGFR3
8cytokine activityGO:00051258.7BMP6, FGF2, TGFB1
9growth factor activityGO:00080838.4BMP6, FGF2, TGFB1

Sources for Crouzon 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