MCID: PFF001
MIFTS: 73

Pfeiffer Syndrome malady

Categories: Genetic diseases, Rare diseases, Infectious diseases, Eye diseases, Bone diseases, Fetal diseases, Skin diseases, Endocrine diseases

Aliases & Classifications for Pfeiffer Syndrome

About this section
Sources:
50OMIM, 34MalaCards, 11Disease Ontology, 69Wikipedia, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 66UMLS, 36MedlinePlus, 2CDC, 37MeSH, 25GTR, 43NCIt, 28ICD10, 30ICD9CM, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pfeiffer Syndrome:

Name: Pfeiffer Syndrome 50 34 11 69 46 24 13 52 68 12 48 66
Infectious Mononucleosis 34 11 13 48 36 2 37 66
Acs5 46 24 52 68
Craniofacial-Skeletal-Dermatologic Dysplasia 50 24 12
Acrocephalosyndactyly Type 5 46 52 68
Pfeiffer Type Acrocephalosyndactyly 46 66
Pfeiffer's Disease 11 25
Acs V 24 68
Gammaherpesviral Mononucleosis 11
 
Acrocephalosyndactyly, Type 5 46
Acrocephalosyndactyly, Type V 24
Acrocephalosyndactylia Type V 11
Filatov's Disease 11
Monocytic Angina 11
Glandular Fever 11
Noack Syndrome 24
Mononucleosis 11
Ps 68

Characteristics:

Orphanet epidemiological data:

52
pfeiffer syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

62
pfeiffer syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 101600
Disease Ontology11 DOID:14705, DOID:8568
ICD1028 B27, B27.0, B27.9
ICD9CM30 075
Orphanet52 ORPHA710
ICD10 via Orphanet29 Q87.0
MESH via Orphanet38 C538582
UMLS via Orphanet67 C2931888

Summaries for Pfeiffer Syndrome

About this section
OMIM:50 Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and... (101600) more...

MalaCards based summary: Pfeiffer Syndrome, also known as infectious mononucleosis, is related to cockayne syndrome and hemolytic anemia, and has symptoms including ptosis, abnormality of thumb phalanx and hypoplasia of the zygomatic bone. An important gene associated with Pfeiffer Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways are Central carbon metabolism in cancer and Alzheimers Disease Pathway. Affiliated tissues include skull, bone and t cells, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Disease Ontology:11 An acrocephalosyndactylia that has material basis in mutations in the fgfr1 and fgfr2 gene which results in premature fusion located in skull.

Genetics Home Reference:24 Pfeiffer 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. Pfeiffer syndrome also affects bones in the hands and feet.

NIH Rare Diseases:46 Pfeiffer syndrome is a disorder that affects the development of the bones in the skull, hands and feet. signs and symptoms can include craniosynostosis, which prevents normal skull growth and affects the shape of the head and face; distinctive facial features including bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose; hearing loss; and dental problems. other features may include broad and deviated thumbs and great toes; brachydactyly; and syndactyly. it is caused by mutations in the fgfr1 or fgfr2 genes and is inherited in an autosomal dominant manner. pfeiffer syndrome is divided into 3 subtypes (type 1, type 2 and type 3) based on the presence and severity of specific features. management typically includes various surgical interventions. last updated: 7/12/2016

MedlinePlus:36 Infectious mononucleosis, or "mono", is an infection usually caused by the epstein-barr virus. the virus spreads through saliva, which is why it's sometimes called "kissing disease." mono occurs most often in teens and young adults. however, you can get it at any age. symptoms of mono include fever sore throat swollen lymph glands sometimes you may also have a swollen spleen. serious problems are rare. a blood test can show if you have mono. most people get better in two to four weeks. however, you may feel tired for a few months afterward. treatment focuses on helping symptoms and includes medicines for pain and fever, warm salt water gargles and plenty of rest and fluids.

CDC:2 Epstein-Barr virus, or EBV, is one of the most common human viruses in the world. It spreads primarily through saliva. EBV can cause infectious mononucleosis, also called mono, and other illnesses. Most people will get infected with EBV in their lifetime and will not have any symptoms. Mono caused by EBV is most common among teens and adults…

UniProtKB/Swiss-Prot:68 Pfeiffer syndrome: A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).

Wikipedia:69 Pfeiffer syndrome is a very rare genetic disorder characterized by the premature fusion of certain bones... more...

Related Diseases for Pfeiffer Syndrome

About this section

Diseases in the Pfeiffer Syndrome family:

Pfeiffer Syndrome Type 1 Pfeiffer Syndrome Type 1, 2 and 3
Pfeiffer Syndrome Type 3 Pfeiffer Syndrome Type 2

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

(show top 50)    (show all 205)
idRelated DiseaseScoreTop Affiliating Genes
1cockayne syndrome29.6CD4, CD40LG
2hemolytic anemia29.5CD4, CD40LG, CD8A
3myelitis29.2CD4, CD40LG, CD8A
4pfeiffer syndrome type 112.0
5pfeiffer syndrome type 212.0
6pfeiffer syndrome type 312.0
7pfeiffer syndrome type 1, 2 and 311.9
8winkelman bethge pfeiffer syndrome11.8
9lymphoproliferative syndrome, x-linked, 111.5
10proteus syndrome, somatic11.1
11polydactyly, preaxial type ii10.9
12pfn1-related amyotrophic lateral sclerosis10.9FGFR1, FGFR2
13pituitary hormone deficiency, combined, 310.8
14ulna and fibula, hypoplasia of10.8
15deafness, autosomal recessive 9110.7COL1A1, COL3A1
16flnb-related disorders10.7FGFR1, FGFR2, FGFR3
17trigonocephaly 110.7FGFR1, FGFR2, FGFR3
18staphylococcal scarlet fever10.7FGFR3, TWIST1
19hypogonadotropic hypogonadism 2 with or without anosmia10.6FGFR1, FGFR2, FGFR3
20conjunctiva squamous cell carcinoma10.6FGF10, FGFR2
21thanatophoric dysplasia, type i10.6FGFR1, FGFR2, FGFR3
22beare-stevenson cutis gyrata syndrome10.6FGFR1, FGFR2, FGFR3
23nail disorder, nonsyndromic congenital, 110.6BGLAP, FGFR1, SP7
24hypochondroplasia10.6FGFR1, FGFR2, FGFR3
25peripheral osteosarcoma10.6BGLAP, RUNX2, SP7
26bone deterioration disease10.5BGLAP, RUNX2, SP7
27chronic active epstein-barr virus infection10.5
28cytomegalovirus infection10.5
29crouzon syndrome with acanthosis nigricans10.5FGF8, FGFR2, FGFR3
30y-linked disease10.5ALPL, FGFR2, FGFR3
31vulvovaginitis10.4BGLAP, FGFR2, RUNX2, SP7
32mite infestation10.4FGFR2, FGFR3
33syphilitic myelopathy10.4COL1A1, FGFR1, FGFR3, RUNX2
34lymphoma10.4
35adult astrocytic tumour10.4FGFR1, FGFR3, TWIST1
36physical disorder10.4BGLAP, COL1A1, RUNX2, SP7
37scott syndrome10.4
38plasmalogens synthesis deficiency isolated10.4FGFR1, FGFR2, FGFR3, TWIST1
39hodgkin's lymphoma, lymphocytic-histiocytic predominance10.4CD40LG, COL1A1, COL3A1
40bladder cancer, somatic10.4FGFR1, FGFR2, FGFR3, TWIST1
41hypertrophic cardiomyopathy10.3FGFR1, FGFR2, FGFR3, TWIST1
42hepatitis10.3
43anal canal paget's disease10.3CD40LG, CD8A
44recurrent hypersomnia10.2CD4, CD40LG
45tonsillitis10.2
46splenic infarction10.2
47ocular hypertension10.1CD4, CD8A
48craniosynostosis10.1
49substance-induced psychosis10.1CD40LG, CD8A
50sapho syndrome10.1CD4, CD40LG

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



Diseases related to pfeiffer syndrome

Symptoms for Pfeiffer Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

101600

Clinical features from OMIM:

101600

Symptoms:

 52 (show all 22)
  • open mouth
  • high palate
  • turricephaly
  • mandibular prognathia
  • hypertelorism
  • short philtrum
  • facial asymmetry
  • high forehead
  • wide nasal bridge
  • short neck
  • ptosis
  • brachydactyly syndrome
  • hip dysplasia
  • hyperlordosis
  • clinodactyly of the 5th finger
  • short stature
  • synostosis of carpal bones
  • finger syndactyly
  • symphalangism affecting the phalanges of the hand
  • cheekbone underdevelopment
  • broad thumb
  • flat face

HPO human phenotypes related to Pfeiffer Syndrome:

(show all 48)
id Description Frequency HPO Source Accession
1 ptosis hallmark (90%) HP:0000508
2 abnormality of thumb phalanx hallmark (90%) HP:0009602
3 hypoplasia of the zygomatic bone hallmark (90%) HP:0010669
4 hypertelorism typical (50%) HP:0000316
5 high forehead typical (50%) HP:0000348
6 wide nasal bridge typical (50%) HP:0000431
7 brachydactyly syndrome typical (50%) HP:0001156
8 clinodactyly of the 5th finger typical (50%) HP:0004209
9 finger syndactyly typical (50%) HP:0006101
10 symphalangism affecting the phalanges of the hand typical (50%) HP:0009773
11 abnormality of the palate occasional (7.5%) HP:0000174
12 open mouth occasional (7.5%) HP:0000194
13 malar flattening occasional (7.5%) HP:0000272
14 mandibular prognathia occasional (7.5%) HP:0000303
15 short philtrum occasional (7.5%) HP:0000322
16 facial asymmetry occasional (7.5%) HP:0000324
17 short neck occasional (7.5%) HP:0000470
18 abnormality of the hip bone occasional (7.5%) HP:0003272
19 hyperlordosis occasional (7.5%) HP:0003307
20 short stature occasional (7.5%) HP:0004322
21 synostosis of carpal bones occasional (7.5%) HP:0005048
22 high palate HP:0000218
23 hydrocephalus HP:0000238
24 brachyturricephaly HP:0000244
25 mandibular prognathia HP:0000303
26 hypertelorism HP:0000316
27 hypoplasia of the maxilla HP:0000327
28 choanal stenosis HP:0000452
29 choanal atresia HP:0000453
30 strabismus HP:0000486
31 downslanted palpebral fissures HP:0000494
32 shallow orbits HP:0000586
33 dental crowding HP:0000678
34 intellectual disability HP:0001249
35 arnold-chiari malformation HP:0002308
36 cloverleaf skull HP:0002676
37 bronchomalacia HP:0002780
38 humeroradial synostosis HP:0003041
39 elbow ankylosis HP:0003070
40 short nose HP:0003196
41 short middle phalanx of toe HP:0003795
42 coronal craniosynostosis HP:0004440
43 depressed nasal bridge HP:0005280
44 cartilaginous trachea HP:0005347
45 finger syndactyly HP:0006101
46 shortening of all middle phalanges of the fingers HP:0006110
47 broad hallux HP:0010055
48 broad thumb HP:0011304

UMLS symptoms related to Pfeiffer Syndrome:


pruritus

Drugs & Therapeutics for Pfeiffer Syndrome

About this section

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

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DocetaxelApproved May 1996Phase 21880114977-28-5148124, 9877265
Synonyms:
(2aR,4S,4aS,6R,9S,11S,12S,12aR,12bS)-12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca[3,4]benz[1,2-b]oxet-9-yl (aR,bS)-b-[[(1,1-dimethylethoxy)carbonyl]amino]-a-hydroxybenzenepropanoate
(2alpha,5beta,7beta,10beta,13alpha)-4-(acetyloxy)-13-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7,10-trihydroxy-9-oxo-5,20-epoxytax-11-en-2-yl benzoate
01885_FLUKA
114977-28-5
4-(Acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
4-(acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
AC-383
AC1L3WHJ
ANX-514
BIND-014
C11231
CHEBI:4672
CHEMBL92
CID148124
D07866
DB01248
Docetaxel
Docetaxel (INN)
Docetaxel anhydrous
Docetaxel, Trihydrate
EmDOC
 
HMS2089K08
InChI=1/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,5
MolPort-003-847-005
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-Boc-10-deacetyl taxol
NSC-628503
PSMA-targeted docetaxel nanoparticle
RP-56976
SDP-014
TXL
Taxotere
Taxotere (TN)
Taxotere(R)
XRP-6976L
docetaxel
docetaxel 114977-28-5
nchembio.188-comp8
nchembio.2007.34-comp7
nchembio.573-comp11
nchembio853-comp8
2glucocorticoidsPhase 24756
3lenograstimPhase 21178
4
protease inhibitorsPhase 25157
Synonyms:
 
protease inhibitors
5AcyclovirPhase 1, Phase 2176
6
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
7Dexamethasone acetatePhase 220011177-87-3
8valacyclovirPhase 1, Phase 2102
9
CarboplatinPhase 2194241575-94-410339178, 498142, 38904
Synonyms:
(SP-4-2)-diammine[cyclobutane-1,1-dicarboxylato(2-)-kappa(2)O,O']platinum
/h1-3H2,(H,7,8)(H,9,10)
/q
1,1-Cyclobutanedicarboxylate diammine platinum (II)
1,1-Cyclobutanedicarboxylate diammine platinum(II)
2*-1
2*1H2
41575-94-4
70903-55-8
AC-1457
AC1L8I6U
Ambap41575-94-4
BSPBio_003145
C 2538
C2043
C2538_SIGMA
C6H10N2O4Pt
CBDCA
CCRIS 3404
CHEBI:31355
CHEMBL1351
CHEMBL288376
CID10339178
CID2567
CID38904
CID426756
CID498142
CID5352133
CID6398587
CID6603770
Carbopaltin
Carboplatin
Carboplatin (JAN/USP/INN)
Carboplatin (USAN)
Carboplatin [USAN:INN:BAN:JAN]
Carboplatine
Carboplatine [French]
Carboplatino
Carboplatino [Spanish]
Carboplatinum
Carboplatinum [Latin]
Cbdca
Cyclobutane-1,1-dicarboxylate
D01363
DB00958
Diammine(1,1-cyclobutanedicarboxylato)platinum (II)
Diammine(cyclobutane-1,1-dicarboxylato(2-)-O,O')platinum
Diammine-1,1-cyclobutane dicarboxylate platinum II
DivK1c_000892
EINECS 255-446-0
EU-0100230
Ercar
HMS1921J16
HMS2090M05
HMS2092B22
HMS502M14
HSDB 6957
I14-2390
IDI1_000892
IUPAC: Azane
InChI=1/C6H8O4.2H2N.Pt/c7-4(8)6(5(9)10)2-1-3-6
 
JM 8
JM-8
KBio1_000892
KBio2_002009
KBio2_004577
KBio2_007145
KBio3_002645
KBioGR_000713
KBioSS_002009
LS-117689
Lopac-C-2538
Lopac0_000230
MolPort-003-665-501
MolPort-003-845-609
NCGC00015223-01
NCGC00093695-01
NCGC00094961-01
NCGC00094961-02
NCGC00094961-03
NCGC00162099-01
NCGC00162099-02
NCGC00167800-01
NCGC00178242-01
NINDS_000892
NSC 201345
NSC 241240
NSC-241240
NSC201345
NSC241240
Paraplatin
Paraplatin (TN)
Paraplatin, Carboplatin
Paraplatin-AQ
Platinum(+2) Cation
Platinum(II), (1, 1-cyclobutanedicar
Platinum, diammine(1,1-cyclobutanedicarboxylato(2-)-O,O')-, (SP-4-2)
Platinum, {diammine[1,1-cyclobut
S1215_Selleck
SPBio_000716
SPECTRUM1502106
Spectrum2_000898
Spectrum3_001503
Spectrum4_000337
Spectrum5_001094
Spectrum_001529
UNII-BG3F62OND5
azanide
carboplatin
cis -Diammine[1,1-cyclobutane-dicarboxylato] platinum
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(II)
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(ii)
cis-Diamine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diamine[1,1-cyclobutanedicarboxylato]platinum(II)
cis-Diammine(1,1-cyclobutanedicarboxylato) platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diammine(cyclobutanedicarboxylato)platinum II
cyclobutane-1,1-dicarboxylic acid
diammine[cyclobutane-1,1-dicarboxylato(2-)-k2O1,O1]platinum
nchembio.573-comp10
nchembio773-comp2
nchembio873-comp3
platinum(2+)
10
DexamethasonePhase 2200150-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
 
Dexameth
Dexamethansone
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038
11
ponatinibPhase 230943319-70-824826799
Synonyms:
AP 24534
AP24534
 
Iclusig
Ponatinibum
ponatinib
12PONATINIB Phase 2
13tyrosineNutraceuticalPhase 1, Phase 2633
14
NeomycinPhase 1471404-04-28378
Synonyms:
(1R,2R,3S,4R,6S)-4,6-diamino-2-{[3-O-(2,6-diamino-2,6-dideoxy-beta-L-idopyranosyl)-beta-D-ribofuranosyl]oxy}-3-hydroxycyclohexyl 2,6-diamino-2,6-dideoxy-alpha-D-glucopyranoside
(2R,3S,4R,5R,6R)-5-amino-2-(aminomethyl)-6-[(1R,2R,3S,4R,6S)-4,6-diamino-2-[(2S,3R,4S,5R)-4-[(2R,3R,4R,5S,6S)-3-amino-6-(aminomethyl)-4,5-dihydroxyoxan-2-yl]oxy-3-hydroxy-5-(hydroxymethyl)oxolan-2-yl]oxy-3-hydroxycyclohexyl]oxyoxane-3,4-diol
11025-81-3
119-04-0
1393-86-8
1404-04-2
1405-10-3 (sulfate (salt))
4-18-00-07476 (Beilstein Handbook Reference)
72131_FLUKA
AB00443887
AC1L1QVH
Actilin
Actiline
Antibiotic 10676
Antibiotic produced by Streptomyces decaris. Neomycin B
Antibiotique
BDG-(1-4)CYY-(5-1)RIB-(3-1)IDG
BDG-(1-4)NEB-(5-1)RIB-(3-1)NED
BPBio1_000326
BRN 0101621
BSPBio_000296
C01737
C23H46N6O13
C25H50N6O13
CCRIS 5462
CHEBI:7508
CID8378
Caswell No. 595
D-Streptamine, O-2,6-diamino-2,6-dideoxy-.beta.-L-idopyranosyl-(1.->3)-O-.beta.-D-ribofuranosyl-(1->5)]-O-[2,6-diamino-2,6-dideoxy-.alpha.-D-glucopyranosyl-(1->4)]-2-deoxy
D05140
DB00452
DB00994
EINECS 204-292-2
EINECS 215-766-3
EPA Pesticide Chemical Code 006303
Endomixin
Enterfram
Fradiomycin
Fradiomycin B
Fradiomycinum
Framicetina
Framicetina [INN-Spanish]
Framycetin
Framycetin (INN)
Framycetin [INN:BAN:DCF]
Framycetine
Framycetine [INN-French]
Framycetinum
Framycetinum [INN-Latin]
 
Framygen
Fraquinol
HMS2089P15
HSDB 3242
LS-96091
LS-96095
MolPort-003-938-736
Myacine
Myacyne
Mycifradin
Myciguent
N1142_SIGMA
NCGC00179612-01
NEOMYCIN AND POLYMYXIN B SULFATES
NEOMYCIN B
NEOMYCIN SULFATE
NMY
Neo-Fradin
Neo-Rx
Neobiotic
Neobrettin
Neolate
Neomas
Neomcin
Neomicina
Neomicina [DCIT]
Neomin
Neomycin B Sulfate
Neomycin B sulfate
Neomycin Sulfate
Neomycin Sulphate
Neomycin solution
Neomycine
Neomycine [INN-French]
Neomycinum
Neomycinum [INN-Latin]
Nivemycin
PIMAVECORT
Prestwick3_000158
ST075177
Soframycin
Soframycin Ophthalmic
Soframycine
Tuttomycin
UNII-4BOC774388
UNII-I16QD7X297
USAF CB-19
VONAMYCIN
Vonamycin powder V
neomycin
15
CyclophosphamidePhase 1275650-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
16
FludarabinePhase 1109221679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
17
OndansetronPhase 129699614-02-54595
Synonyms:
(RS)-1,2,3,9-Tetrahydro-9-methyl-3-(2-methylimidazol-1-ylmethyl)carbazol-4-one
1,2,3,9-Tetrahydro-9-methyl-3-((2-methyl-1H-imidazol-1-yl)methyl)-4H-carbazol-4-one
103639-04-9 (mono-hydrochloride dihydrate)
108303-49-7
116002-70-1
9-Methyl-3-(2-methyl-imidazol-1-ylmethyl)-1,2,3,9-tetrahydro-carbazol-4-one
9-methyl-3-[(2-methyl-1H-imidazol-1-yl)methyl]-1,2,3,9-tetrahydro-4H-carbazol-4-one
9-methyl-3-[(2-methylimidazol-1-yl)methyl]-2,3-dihydro-1H-carbazol-4-one
99614-01-4 (mono-hydrochloride)
99614-02-5
AB00373674
AC1L1IIM
AKOS000599484
Apo-ondansetron
BAS 00717177
BPBio1_001118
BRD-A19736161-001-01-8
BRD-A19736161-003-03-0
BRN 3622981
BSPBio_001016
C07325
C18H19N3O
CBDivE_008994
CHEMBL46
CID4595
CPD001307702
D00456
DB00904
DESMETHYLONDANSETRON
GR 38032
GR 38032X
GR-38032F
GR38032F
HMS2090H16
I06-0687
I06-1329
 
L000456
LS-172305
LS-51878
MolPort-001-944-253
NCI60_022780
Novo-ondansetron
Ondansetron
Ondansetron (JAN/USP/INN)
Ondansetron [USAN:INN:BAN]
Ondansetron, (+,-)-Isomer
Oprea1_435466
Oprea1_852372
PHL-ondansetron
PMS-ondansetron
Prestwick0_001058
Prestwick1_001058
Prestwick2_001058
Prestwick3_001058
Ratio-ondansetron
SAM002589958
SN-307
SPBio_002938
STK370548
STOCK4S-10990
Sandoz ondansetron
TL8006071
TimTec1_001750
UNII-4AF302ESOS
ZOFRAN IN PLASTIC CONTAINER
Zofran
Zofran ODT
Zofran ODT (TN)
Zofran odt
Zophren
Zudan
ondansetron
ondansetron (Zofran)
18Alkylating AgentsPhase 14573
19
AzacitidinePhase 1482320-67-29444
Synonyms:
2-(beta-D-Ribofuranosyl)-4-amino-1,3,5-triazin-2-one
320-67-2
4-Amino-1-(beta-D-ribofuranosyl)-1,3,5-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-traizin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-triazine-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-S-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-s-triazin-2(1H)-one
4-Amino-1-beta-d-ribofuranosyl-1,3,5-triazin-2(1H)-one
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triaz
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triazin-2-one
4-amino-1-beta-L-ribofuranosyl-1,3,5-triazin-2(1H)-one
5 AZC
5 Azacytidine
5-AC
5-AZAC
5-AZCR
5-Azacytidine
5-aza-CR
5-azacitidine
5-azacytidine
5-azacytidine, Mylosar, Ladakamycin, Vidaza, Azacitidine
5AzaC
A 2385
A1287_SIGMA
A2385_SIGMA
AC1L1T1Y
Antibiotic U 18496
Azacitidina
Azacitidina [INN-Spanish]
Azacitidine
Azacitidine (JAN/USAN/INN)
Azacitidine [USAN:INN]
Azacitidinum
Azacitidinum [INN-Latin]
Azacytidine
BCBcMAP01_000083
BRN 0620461
BSPBio_003157
C11262
CCRIS 60
CHEBI:2038
CHEMBL1489
CID9444
CPD000857239
D001374
D03021
DB00928
DivK1c_000125
EINECS 206-280-2
EU-0100035
FT-0081170
HMS1921J22
HMS2092D08
HMS500G07
HSDB 6879
IDI1_000125
InChI=1/C8H12N4O5/c9-7-10-2-12(8(16)11-7)6-5(15)4(14)3(1-13)17-6/h2-6,13-15H,1H2,(H2,9,11,16)/t3-,4-,5-,6-/m1/s1
 
Jsp005945
KBio1_000125
KBio2_001742
KBio2_002556
KBio2_004310
KBio2_005124
KBio2_006878
KBio2_007692
KBio3_002657
KBio3_003034
KBioGR_001444
KBioGR_002556
KBioSS_001742
KBioSS_002565
LS-1189
Ladakamycin
Lopac0_000035
MLS001333121
MLS001333122
MLS002153249
MolMap_000062
Mylosar
NCGC00090851-01
NCGC00090851-02
NCGC00090851-03
NCGC00090851-04
NCGC00090851-08
NCGC00178234-01
NCI-C01569
NINDS_000125
NS-17
NSC 102816
NSC-102816
NSC102816
Pharmion Brand of Azacitidine
S1782_Selleck
SAM002264595
SMR000857239
SPBio_000892
SPECTRUM1502111
ST056940
Spectrum2_000786
Spectrum3_001509
Spectrum4_000922
Spectrum5_001166
Spectrum_001262
TL80073599
U 18496
U-18496
UNII-M801H13NRU
Vidaza
Vidaza (TN)
WR-183027
ZINC03861768
cMAP_000082
mylo sar
pyrimidine antimetabolite: inhibits nucleic acid replication
s-Triazin-2(1H)-one, 4-amino-1-beta-D-ribofuranosyl- (8CI)
wr 183027
20insulin4401

Interventional clinical trials:

(show top 50)    (show all 53)
idNameStatusNCT IDPhase
1Acupuncture for Infectious Mononucleosis TrialCompletedNCT00598988Phase 2, Phase 3
2A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV)RecruitingNCT01376778Phase 3
3Controlled Trial of Valacyclovir in Infectious MononucleosisCompletedNCT00274404Phase 1, Phase 2
4Activity of Valomaciclovir in Infectious Mononucleosis Due to Primary Epstein-Barr Virus InfectionCompletedNCT00575185Phase 1, Phase 2
5Evaluation of Safety, Immune-Response and Efficacy of GSK Biologicals’ EBV (Epstein Barr Virus) Vaccine (268664).CompletedNCT00430534Phase 2
6Accelerated Immunization to Induce Cytomegalovirus Immunity in Stem Cell DonorsCompletedNCT00353977Phase 2
7Carboplatin and Docetaxel Followed by Epstein-Barr Virus Cytotoxic T LymphocytesCompletedNCT00953420Phase 2
8Efficacy and Safety of AZD4547 Versus Paclitaxel in Advanced Gastric or Gastro-oesophageal Junction Cancer PatientsCompletedNCT01457846Phase 2
9Sedation Management in Pediatric Patients Supported on Mechanical VentilationCompletedNCT00142766Phase 2
10ARMS - Rapidly Generated Multivirus-Specific CTLs for the Prophylaxis And Treatment of EBV, CMV, Adenovirus, HHV6, and BK VirusRecruitingNCT01570283Phase 1, Phase 2
11Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic AlterationsRecruitingNCT01752920Phase 1, Phase 2
12Dovitinib for Gastric Cancer With FGFR2 AmplificationRecruitingNCT01719549Phase 2
13Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 FusionsRecruitingNCT02265341Phase 2
14A Phase II, Single Arm Study of BGJ398 in Patients With Advanced CholangiocarcinomaActive, not recruitingNCT02150967Phase 2
15Epstein Barr Virus (EBV) Specific Cytotoxic T-Cells, Relapsed Lymphoma, ANGELCompletedNCT00058617Phase 1
16T-Lymphocytes in Treating Patients With Epstein-Barr Virus-Positive Nasopharyngeal Cancer, NPCCompletedNCT00609219Phase 1
17LMP1- and LMP2-Specific CTLs to Patients With EBV-Positive NPC (NATELLA)CompletedNCT00516087Phase 1
18Treating Severe Chronic Epstein-Barr Virus (EBV) Infection With EBV Specific Cytotoxic T Lymphocytes (CTLs)CompletedNCT00058591Phase 1
19Administration of Rapidly Generated Multivirus-specific Cytotoxic T-Lymphocytes (VIRAGE)CompletedNCT01070797Phase 1
20Cytotoxic T Cells to Treat Relapsed EBV-positive LymphomaRecruitingNCT01956084Phase 1
21Administration of Donor MultiTAA-Specific T Cells for ALLRecruitingNCT02475707Phase 1
22Administration of Donor Multi TAA-Specific T Cells for AML or MDS (ADSPAM)RecruitingNCT02494167Phase 1
23Administration of TAA-Specific CTLs; Hodgkin or Non-Hodgkin Lymphoma; TACTALRecruitingNCT01333046Phase 1
24TGF-beta Resistant Cytotoxic T-lymphocytes in Treatment of EBV-positive Nasopharyngeal Carcinoma / RESIST-NPCRecruitingNCT02065362Phase 1
25Most Closely Matched 3rd Party Rapidly Generated LMP, BARF1 And EBNA1 Specific CTL, EBV-Positive Lymphoma (MABEL)RecruitingNCT02287311Phase 1
26Cytotoxic T-Lymphocytes for EBV-positive Lymphoma, GRALERecruitingNCT01555892Phase 1
27Most Closely HLA-Matched CTLs for Relapsed Epstein Barr Virus(EBV)-Associated DiseasesActive, not recruitingNCT01447056Phase 1
28LMP-specific T-cells for Patients With Relapsed EBV-positive LymphomaActive, not recruitingNCT00062868Phase 1
29T-cells or EBV Specific CTLs, Advanced B-Cell NHL and CLLActive, not recruitingNCT00709033Phase 1
30EBV CTLs Expressing CD30 Chimeric Receptors For CD 30+ LymphomaActive, not recruitingNCT01192464Phase 1
31Autologous/Allogeneic TGFbeta-resistant LMP2A-specific CTL, Lymphoma (TGF-beta)Active, not recruitingNCT00368082Phase 1
32Blood T-Cells and EBV Specific CTLs Expressing GD-2 Specific Chimeric T Cell Receptors to Neuroblastoma PatientsActive, not recruitingNCT00085930Phase 1
33Multi-virus CTLs Expressing CD19 Chimeric Receptors, CD19 Positive Malignancies Post SCT, MULTIPRATActive, not recruitingNCT00840853Phase 1
34Giving Gene Marked EBV Specific T-Cells to Patients Receiving a BMT for Relapsed EBV-Positive Hodgkin DiseaseTerminatedNCT00058773Phase 1
35Lmp1 and Lmp2 Specific CTLs Following Cd45 Antibody for Relapsed Ebv-Positive Hodgkin's Or Non-Hodgkin's LymphomaTerminatedNCT00383097Phase 1
36LMP2a-Specific Cytotoxic T-Lymphocytes, Lymphoma (ACDAL)TerminatedNCT00082225Phase 1
37Phase I, Dose-escalation Trial of BAY1187982 in Subjects With Advanced Solid Tumors Known to Express Fibroblast Growth Factor Receptor 2 (FGFR2)TerminatedNCT02368951Phase 1
38Genetic Studies of X-linked Lymphoproliferative DiseaseCompletedNCT00359411
39Prospective Study of Possible Infectious Disease - Associated Antigen Drive in Previously Untreated Indolent LymphomaCompletedNCT00582270
40Effects of Long-Term Treatment With Valaciclovir (Valtrex) on Epstein-Barr VirusCompletedNCT00005924
41Protein Studies of the Epstein-Barr Virus in Ethnically Diverse PopulationsCompletedNCT00070785
42Protein, Fiber, and Metabolic Syndrome - The PROFIMET StudyCompletedNCT00579657
43Effects of (1,3), (1,6)-Beta-D-glucan on Insulin Sensitivity and Inflammatory Markers of the Metabolic SyndromeCompletedNCT00403689
44Comparison of a Plant Protein Diet to a Animal Protein Diet Emphasized in Type 2 DiabeticsCompletedNCT02402985
45OPTIFIT-Optimal Fiber Trial for Diabetes PreventionCompletedNCT01681173
46The Use of Point-of-Care Ultrasound in the Diagnosis of Acute Infectious Mononucleosis in the Emergency DepartmentRecruitingNCT02463669
47Genetic Studies of Chronic Active Epstein-Barr DiseaseRecruitingNCT00032513
48HIV Indicator Diseases Across Europe StudyRecruitingNCT01681706
49Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced OsteomalaciaRecruitingNCT01660308
50Comparative Autoantibody and Immunologic Cell Marker StudyEnrolling by invitationNCT02422875

Search NIH Clinical Center for Pfeiffer Syndrome


Cochrane evidence based reviews: infectious mononucleosis

Genetic Tests for Pfeiffer Syndrome

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Genetic tests related to Pfeiffer Syndrome:

id Genetic test Affiliating Genes
1 Pfeiffer Syndrome25

Anatomical Context for Pfeiffer Syndrome

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MalaCards organs/tissues related to Pfeiffer Syndrome:

34
Bone, T cells, Eye, Monocytes, Testes, Spleen, Trachea

FMA organs/tissues related to Pfeiffer Syndrome:

17
Skull

Animal Models for Pfeiffer Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Pfeiffer Syndrome:

39 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6COL1A1, FGF10, FGF8, FGFR1, FGFR2, FGFR3
2MP:00053828.9ALPL, COL1A1, FGF10, FGF8, FGFR1, FGFR2
3MP:00053918.7COL1A1, FGF10, FGF8, FGFR1, FGFR2, FGFR3
4MP:00053698.6ALPL, COL1A1, COL3A1, FGF10, FGF8, FGFR1
5MP:00053888.5ALPL, COL1A1, COL3A1, FGF10, FGF8, FGFR2
6MP:00053808.4ALPL, COL1A1, FGF10, FGF8, FGFR1, FGFR2
7MP:00053678.0CD40LG, COL1A1, FGF10, FGF7, FGF8, FGFR1
8MP:00053817.9ALPL, CD4, COL1A1, COL3A1, FGF10, FGF8
9MP:00053897.8ALPL, CD40LG, COL1A1, FGF10, FGF7, FGF8
10MP:00053717.7ALPL, COL1A1, FGF10, FGF8, FGFR1, FGFR2
11MP:00028737.5CD4, CD8A, COL1A1, FGF10, FGF8, FGFR1
12MP:00107717.4CD4, CD40LG, CD8A, COL1A1, COL3A1, FGF10
13MP:00053797.4ALPL, CD4, CD40LG, CD8A, COL1A1, FGF10
14MP:00053847.3ALPL, CD4, CD40LG, COL1A1, COL3A1, FGF10
15MP:00053857.0ALPL, CD40LG, COL1A1, COL3A1, FGF10, FGF8
16MP:00053906.9ALPL, CD40LG, COL1A1, FGF10, FGF8, FGFR1
17MP:00036316.4ALPL, CD4, CD40LG, CD8A, COL1A1, FGF10
18MP:00053786.4ALPL, CD4, COL1A1, COL3A1, FGF10, FGF8
19MP:00053766.1ALPL, CD4, CD40LG, COL1A1, COL3A1, FGF10
20MP:00053876.1ALPL, CD4, CD40LG, CD8A, COL1A1, COL3A1
21MP:00107685.5ALPL, CD4, CD40LG, CD8A, COL1A1, COL3A1
22MP:00053975.5ALPL, CD4, CD40LG, CD8A, COL1A1, FGF10

Publications for Pfeiffer Syndrome

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Articles related to Pfeiffer Syndrome:

(show top 50)    (show all 114)
idTitleAuthorsYear
1
Clinical Image - Radiographic manifestations in Pfeiffer syndrome. (25892094)
2015
2
Describing Crouzon and Pfeiffer syndrome based on principal component analysis. (25792443)
2015
3
Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families. (25129254)
2014
4
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. (25251565)
2014
5
Pfeiffer syndrome. (24891917)
2014
6
Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis. (24411056)
2013
7
FGFR mutation in Pfeiffer syndrome. (23851850)
2013
8
Intubation using a "bonfils fiberscope" in a patient with pfeiffer syndrome. (23208638)
2011
9
Intestinal malrotation in a patient with Pfeiffer syndrome type 2. (20509766)
2010
10
A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene. (21189955)
2010
11
Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome: an overview of physical, neurological, and oral characteristics. (20129888)
2010
12
Audiologic findings in Pfeiffer syndrome. (20856029)
2010
13
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. (19066959)
2009
14
Pyrexia after transcranial surgery for Pfeiffer syndrome. (19242364)
2009
15
Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement. (19390453)
2009
16
Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation. (18541976)
2008
17
A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia. (18671283)
2008
18
A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage. (18049087)
2008
19
Pfeiffer syndrome. (16740155)
2006
20
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. (16957473)
2006
21
A case of Pfeiffer syndrome. (16614535)
2006
22
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. (15996217)
2005
23
Tracheal anomalies in Pfeiffer syndrome. (15545585)
2004
24
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. (15523615)
2004
25
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. (14564217)
2003
26
Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. (11807866)
2002
27
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. (10945669)
2000
28
Using three-dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome. (11169319)
2000
29
Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2. (10731087)
1999
30
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. (9714439)
1998
31
Prenatal diagnosis of cloverleaf skull in the subtype 2 Pfeiffer syndrome. (9018425)
1997
32
Bilateral suprarenal cryptorchidism in a patient with the Pfeiffer syndrome. (9224373)
1997
33
Type 3 Pfeiffer syndrome with normal thumbs. (8958319)
1996
34
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. (7795583)
1995
35
FGFR2 mutations in Pfeiffer syndrome. (7719333)
1995
36
Pfeiffer syndrome: a clinical review. (7727489)
1995
37
Hydrocephalus in pfeiffer syndrome. (18638762)
1994
38
Pfeiffer syndrome. (8054032)
1994
39
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. (7874169)
1994
40
Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. (7881412)
1994
41
A severe case of Pfeiffer syndrome associated with stub thumb on the maternal side of the family. (8325969)
1993
42
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. (8434615)
1993
43
Natal molars in Pfeiffer syndrome type 3: a case report. (8110608)
1993
44
Pfeiffer syndrome: a syndrome of acrocephalosyndactyly. (1645001)
1992
45
Mild expression of the Pfeiffer syndrome. (3191611)
1988
46
Mild expression of the Pfeiffer syndrome. (3342547)
1988
47
Cloverleaf skull associated with Pfeiffer syndrome: pathology and management. (3792393)
1986
48
Variable expression in Pfeiffer syndrome. (7253005)
1981
49
Comparative dermatoglyphic analysis in two types of acrocephalosyndactyly: Saethre-Chotzen syndrome and Pfeiffer syndrome. (552891)
1979
50
Pfeiffer syndrome: an unusual type of acrocephalosyndactyl with broad thumbs and great toes. (5535071)
1970

Variations for Pfeiffer Syndrome

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

68 (show all 19)
id Symbol AA change Variation ID SNP ID
1FGFR1p.Pro252ArgVAR_004111rs121909627
2FGFR2p.Ser252TrpVAR_004115rs79184941
3FGFR2p.Cys278PheVAR_004121rs776587763
4FGFR2p.Trp290CysVAR_004124rs121918499
5FGFR2p.Asp321AlaVAR_004129rs121918510
6FGFR2p.Thr341ProVAR_004135rs121918495
7FGFR2p.Cys342ArgVAR_004137rs121918488
8FGFR2p.Cys342SerVAR_004138rs121918488
9FGFR2p.Cys342TyrVAR_004139rs121918487
10FGFR2p.Ala344ProVAR_004141
11FGFR2p.Ser351CysVAR_004143rs121918502
12FGFR2p.Val359PheVAR_004146
13FGFR2p.Ala172PheVAR_017259
14FGFR2p.Tyr340CysVAR_017269
15FGFR2p.Cys342GlyVAR_017270
16FGFR2p.Tyr375CysVAR_017275rs121913478
17FGFR2p.Glu565GlyVAR_017277
18FGFR2p.Lys641ArgVAR_017278
19FGFR2p.Gly663GluVAR_017280

Clinvar genetic disease variations for Pfeiffer Syndrome:

5 (show all 13)
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.1024T> C (p.Cys342Arg)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
3FGFR2NM_000141.4(FGFR2): c.1021A> C (p.Thr341Pro)single nucleotide variantPathogenicrs121918495GRCh37Chr 10, 123276896: 123276896
4FGFR2NM_000141.4(FGFR2): c.870G> C (p.Trp290Cys)single nucleotide variantPathogenicrs121918499GRCh37Chr 10, 123279562: 123279562
5FGFR2NM_000141.4(FGFR2): c.817_819delGAC (p.Asp273del)deletionPathogenicrs121918503GRCh37Chr 10, 123279613: 123279615
6FGFR2NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro)single nucleotide variantPathogenicrs121918505GRCh37Chr 10, 123279633: 123279633
7FGFR2NM_000141.4(FGFR2): c.940-1G> Asingle nucleotide variantPathogenicrs879253719GRCh37Chr 10, 123276978: 123276978
8FGFR2NM_000141.4(FGFR2): c.940-3_946delinsACCindelPathogenic
9FGFR2NM_000141.4(FGFR2): c.870G> T (p.Trp290Cys)single nucleotide variantPathogenicrs121918499GRCh37Chr 10, 123279562: 123279562
10FGFR2NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala)single nucleotide variantPathogenicrs121918506GRCh37Chr 10, 123256215: 123256215
11FGFR2NM_000141.4(FGFR2): c.1084+3A> Gsingle nucleotide variantPathogenicrs879253721GRCh37Chr 10, 123276830: 123276830
12FGFR2NM_000141.4(FGFR2): c.962A> C (p.Asp321Ala)single nucleotide variantPathogenicrs121918510GRCh37Chr 10, 123276955: 123276955
13FGFR1NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg)single nucleotide variantPathogenicrs121909627GRCh37Chr 8, 38282208: 38282208

Expression for genes affiliated with Pfeiffer Syndrome

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Search GEO for disease gene expression data for Pfeiffer Syndrome.

Pathways for genes affiliated with Pfeiffer Syndrome

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

(show all 39)
idSuper pathwaysScoreTop Affiliating Genes
19.9FGFR1, FGFR2, FGFR3
29.9FGFR1, FGFR2, FGFR3
3
Show member pathways
9.9FGFR1, FGFR2, FGFR3
49.6FGF10, FGF8, FGFR1, FGFR3
59.6FGFR1, FGFR2, FGFR3, SH2D1A
69.6ALPL, FGFR1, FGFR3, RUNX2
79.5CD40LG, COL1A1, COL3A1
89.5BGLAP, COL1A1, RUNX2
99.5FGF8, FGFR1, FGFR2, FGFR3, TWIST1
109.4BGLAP, FGFR1, FGFR2, RUNX2
119.3CD40LG, COL3A1, SLAMF1
129.3FGF7, FGFR1, FGFR2, FGFR3
139.2CD4, CD40LG, CD8A
149.1CD4, CD40LG, SLAMF1
159.1BGLAP, CD4, RUNX2, TWIST1
16
Show member pathways
9.0FGF10, FGF7, FGF8, FGFR1, FGFR2
179.0BGLAP, FGF10, FGF8, RUNX2, SP7
188.8FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
19
Show member pathways
8.8FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
20
Show member pathways
8.8FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
21
Show member pathways
8.8FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
22
Show member pathways
8.8FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
23
Show member pathways
8.8FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
248.8FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
25
Show member pathways
8.8FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
26
Show member pathways
8.8FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
27
Show member pathways
8.8FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
28
Show member pathways
8.8FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
298.8FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
308.8FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
318.7CD4, CD8A, RUNX2, SLAMF1
328.7BGLAP, COL1A1, FOSL1, RUNX2
33
Show member pathways
8.5CD40LG, FGF10, FGF7, FGF8, FGFR1, FGFR2
348.5COL1A1, FGF10, FGF7, FGF8, FGFR1, FGFR2
35
Show member pathways
8.3CD4, FGF10, FGF7, FGF8, FGFR1, FGFR2
36
Show member pathways
8.2COL1A1, COL3A1, FGF10, FGF7, FGF8, FGFR1
37
Show member pathways
8.0CD4, CD40LG, FGF10, FGF7, FGF8, FGFR1
38
Show member pathways
7.2CD4, CD40LG, FGF10, FGF7, FGF8, FGFR1
39
Show member pathways
6.5CD4, CD40LG, COL1A1, COL3A1, FGF10, FGF7

GO Terms for genes affiliated with Pfeiffer Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.0BGLAP, CD4, COL1A1, COL3A1
2external side of plasma membraneGO:00098978.8CD4, CD40LG, CD8A, FGF8, SLAMF1
3cell surfaceGO:00099868.3CD4, CD40LG, CD8A, FGF10, FGFR2, FGFR3
4extracellular regionGO:00055767.3BGLAP, CD8A, COL1A1, COL3A1, FGF10, FGF7

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

(show top 50)    (show all 69)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.8FGFR1, FGFR2
2mammary gland bud formationGO:006061510.8FGF10, FGFR2
3mesenchymal cell differentiation involved in lung developmentGO:006091510.8FGF10, FGFR2
4branch elongation involved in salivary gland morphogenesisGO:006066710.8FGF10, FGFR2
5fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:006059510.8FGF10, FGFR2
6epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.8FGF10, FGFR2
7bud elongation involved in lung branchingGO:006044910.7FGF10, FGFR2
8ventricular zone neuroblast divisionGO:002184710.6FGFR1, FGFR2
9organ inductionGO:000175910.5FGF10, FGF8, FGFR1
10otic vesicle formationGO:003091610.5FGF10, FGF8, FGFR2
11positive regulation of phospholipase activityGO:001051810.4FGFR1, FGFR2, FGFR3
12secretion by lung epithelial cell involved in lung growthGO:006103310.4FGF10, FGF7
13chondrocyte differentiationGO:000206210.3FGFR1, FGFR3, RUNX2
14digestive tract developmentGO:004856510.3COL3A1, FGF10, FGFR2
15embryonic cranial skeleton morphogenesisGO:004870110.2FGFR2, RUNX2, TWIST1
16regulation of odontogenesis of dentin-containing toothGO:004248710.2FGF8, RUNX2
17regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signalingGO:006066510.2FGF10, FGF7, FGFR1
18bone mineralizationGO:003028210.1BGLAP, FGFR2, FGFR3
19orbitofrontal cortex developmentGO:002176910.1FGFR1, FGFR2
20skeletal system morphogenesisGO:004870510.1COL1A1, FGFR1, FGFR2, RUNX2
21lung developmentGO:003032410.1FGF10, FGF8, FGFR1, FGFR2
22positive regulation of MAPK cascadeGO:004341010.1FGF10, FGFR1, FGFR2, FGFR3
23bone developmentGO:006034810.0BGLAP, FGF8, FGFR2, TWIST1
24positive regulation of cell divisionGO:005178110.0FGF7, FGF8, FGFR2
25odontogenesisGO:004247610.0BGLAP, FGF8, FGFR2, TWIST1
26inner ear morphogenesisGO:004247210.0FGF10, FGF8, FGFR1, FGFR2
27hair follicle morphogenesisGO:003106910.0FGF10, FGF7, FGFR2
28positive chemotaxisGO:00509189.9FGF10, FGF7, FGF8
29positive regulation of cell cycleGO:00457879.9FGFR1, FGFR2, FOSL1
30endochondral ossificationGO:00019589.8ALPL, COL1A1, FGFR3, RUNX2
31response to vitamin DGO:00332809.7ALPL, BGLAP, CD4
32ossificationGO:00015039.6BGLAP, COL1A1, RUNX2, TWIST1
33positive regulation of epithelial cell proliferationGO:00506799.6FGF10, FGF7, FGFR2, TWIST1
34branching involved in salivary gland morphogenesisGO:00604459.6FGF10, FGF7, FGF8, FGFR1, FGFR2
35phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.5FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
36phosphatidylinositol phosphorylationGO:00468549.4FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
37regulation of phosphatidylinositol 3-kinase signalingGO:00140669.4FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
38phosphatidylinositol-mediated signalingGO:00480159.4FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
39fibroblast growth factor receptor signaling pathwayGO:00085439.4FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
40regulation of immune responseGO:00507769.3CD40LG, CD8A, COL1A1, COL3A1, SH2D1A
41peptidyl-tyrosine phosphorylationGO:00181089.3FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
42MAPK cascadeGO:00001659.2FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
43response to organic cyclic compoundGO:00140709.2BGLAP, FGF10, FGF8, FOSL1
44response to mechanical stimulusGO:00096129.0BGLAP, COL1A1, COL3A1, FOSL1
45positive regulation of ERK1 and ERK2 cascadeGO:00703749.0FGF10, FGF8, FGFR2, FGFR3, SLAMF1
46osteoblast differentiationGO:00016499.0ALPL, BGLAP, COL1A1, RUNX2, SP7, TWIST1
47wound healingGO:00420609.0COL1A1, COL3A1, FGF10, FGF7
48positive regulation of GTPase activityGO:00435478.9FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
49skeletal system developmentGO:00015018.8ALPL, BGLAP, COL1A1, COL3A1, FGFR1, FGFR3
50positive regulation of cell proliferationGO:00082846.9FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:000500710.7FGFR1, FGFR2, FGFR3
2fibroblast growth factor bindingGO:001713410.5FGFR1, FGFR2, FGFR3
3platelet-derived growth factor bindingGO:004840710.5COL1A1, COL3A1
4type 2 fibroblast growth factor receptor bindingGO:000511110.4FGF10, FGF7
5chemoattractant activityGO:004205610.0FGF10, FGF7, FGF8
6extracellular matrix structural constituentGO:00052019.9CD4, COL1A1, COL3A1
7heparin bindingGO:00082019.9FGF10, FGF7, FGFR1, FGFR2
81-phosphatidylinositol-3-kinase activityGO:00163039.6FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
9phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.5FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
10protein tyrosine kinase activityGO:00047139.4FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
11Ras guanyl-nucleotide exchange factor activityGO:00050889.4FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
12protein homodimerization activityGO:00428038.8CD4, CD8A, FGFR1, FGFR2, TKT, TWIST1
13protein bindingGO:00055154.1ALPL, CD4, CD40LG, CD8A, COL1A1, COL3A1

Sources for Pfeiffer 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