PS
MCID: PFF001
MIFTS: 73

Pfeiffer Syndrome (PS) malady

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

Aliases & Classifications for Pfeiffer Syndrome

Aliases & Descriptions for Pfeiffer Syndrome:

Name: Pfeiffer Syndrome 54 39 12 71 50 25 56 66 13 52 14 69
Infectious Mononucleosis 39 12 52 41 3 42 14 69
Acs5 50 25 56 66
Craniofacial-Skeletal-Dermatologic Dysplasia 54 25 13
Acrocephalosyndactyly Type 5 50 56 66
Pfeiffer Type Acrocephalosyndactyly 50 69
Pfeiffer's Disease 12 29
Acs V 25 66
Gammaherpesviral Mononucleosis 12
Acrocephalosyndactylia Type V 12
Acrocephalosyndactyly, Type 5 50
Acrocephalosyndactyly, Type V 25
Filatov's Disease 12
Monocytic Angina 12
Glandular Fever 12
Noack Syndrome 25
Mononucleosis 12
Ps 66

Characteristics:

Orphanet epidemiological data:

56
pfeiffer syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;

HPO:

32
pfeiffer syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 101600
Disease Ontology 12 DOID:14705 DOID:8568
ICD10 33 B27 B27.0 B27.9
ICD9CM 35 075
Orphanet 56 ORPHA710
ICD10 via Orphanet 34 Q87.0
MESH via Orphanet 43 C538582
UMLS via Orphanet 70 C2931888

Summaries for Pfeiffer Syndrome

OMIM : 54 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 pharyngitis and pfeiffer syndrome type 1, and has symptoms including hypertelorism, short neck and finger syndactyly. An important gene associated with Pfeiffer Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are ERK Signaling and Class I MHC mediated antigen processing and presentation. The drugs Antibodies and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and testes, and related phenotypes are hematopoietic system and growth/size/body region

Disease Ontology : 12 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 : 25 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 : 50 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 : 41 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 : 3 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 : 66 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 : 71 Pfeiffer syndrome is a very rare genetic disorder characterized by the premature fusion of certain bones... more...

Related Diseases for Pfeiffer Syndrome

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 166)
id Related Disease Score Top Affiliating Genes
1 pharyngitis 30.0 BGLAP FGFR2 RUNX2 SP7
2 pfeiffer syndrome type 1 11.9
3 pfeiffer syndrome type 2 11.9
4 pfeiffer syndrome type 3 11.8
5 pfeiffer syndrome type 1, 2 and 3 11.8
6 winkelman bethge pfeiffer syndrome 11.7
7 lymphoproliferative syndrome, x-linked, 1 11.6
8 cytomegalovirus infection 11.3
9 cytomegalic inclusion disease 11.2
10 chronic active epstein-barr virus infection 11.2
11 scott syndrome 11.0
12 proteus syndrome, somatic 11.0
13 neurological consequences of cytomegalovirus infection 10.9
14 salivary gland disease 10.9
15 post-transplant lymphoproliferative disease 10.9
16 perlman syndrome 10.8
17 polydactyly, preaxial type ii 10.8
18 pituitary hormone deficiency, combined, 3 10.7
19 ulna and fibula, hypoplasia of 10.7
20 pkp1-related ectodermal dysplasia/skin fragility syndrome 10.3 FGFR1 FGFR2
21 pitx3-related anterior segment mesenchymal dysgenesis 10.3 FGFR1 FGFR2
22 familial porphyria cutanea tarda 10.3 FGFR1 FGFR2 FGFR3
23 hartsfield syndrome 10.3 FGFR1 FGFR2 FGFR3
24 osteoglophonic dysplasia 10.3 FGFR1 FGFR2 FGFR3
25 lymphoma 10.3
26 crouzon syndrome with acanthosis nigricans 10.3 FGFR1 FGFR2 FGFR3
27 apert syndrome 10.2 FGFR1 FGFR2 FGFR3
28 maroteaux stanescu cousin syndrome 10.2 ALPL BGLAP RUNX2
29 thanatophoric dysplasia, type i 10.2 FGFR1 FGFR2 FGFR3
30 deafness, autosomal recessive 61 10.2 ALPL COL1A1 FGFR3
31 mental retardation, autosomal recessive 35 10.2 BGLAP COL1A1 FGFR3
32 t cell immunodeficiency primary 10.2 COL1A1 FGFR1 FGFR3 RUNX2
33 hepatitis 10.2
34 candidiasis, familial, 3 10.2 FGF8 FGFR3
35 muenke syndrome 10.2 FGF8 FGFR2 FGFR3
36 factor xiiia deficiency 10.2 COL1A1 COL3A1
37 neuropathy, distal hereditary motor, type iia 10.1 COL1A1 COL3A1 FGFR3 RUNX2
38 pointer syndrome 10.1 FGFR1 FGFR2 FGFR3 TWIST1
39 idiopathic recurrent and disabling cutaneous herpes 10.1 FGFR3 TWIST1
40 atrophy of testis 10.1 FGFR1 FGFR2 FGFR3 TWIST1
41 dysbaric osteonecrosis 10.1 BGLAP COL1A1 RUNX2 SP7
42 ischemic bone disease 10.1 BGLAP RUNX2 SP7
43 prostatocystitis 10.1 BGLAP COL1A1 FGFR3 SP7
44 intrahepatic cholestasis 10.1 BGLAP COL1A1 RUNX2
45 isolated scaphocephaly 10.1 FGFR3 TWIST1
46 tonsillitis 10.1
47 vulvovaginitis 10.1 ALPL BGLAP COL1A1 FGFR3 SP7
48 splenic infarction 10.1
49 craniosynostosis 10.0
50 leukemia 10.0

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



Diseases related to Pfeiffer Syndrome

Symptoms & Phenotypes for Pfeiffer Syndrome

Symptoms by clinical synopsis from OMIM:

101600

Clinical features from OMIM:

101600

Human phenotypes related to Pfeiffer Syndrome:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Frequent (79-30%) HP:0000316
2 short neck 56 32 Occasional (29-5%) HP:0000470
3 finger syndactyly 56 32 Frequent (79-30%) HP:0006101
4 high palate 56 32 Occasional (29-5%) HP:0000218
5 ptosis 56 32 Very frequent (99-80%) HP:0000508
6 hyperlordosis 56 32 Occasional (29-5%) HP:0003307
7 mandibular prognathia 56 32 Occasional (29-5%) HP:0000303
8 hip dysplasia 56 32 Occasional (29-5%) HP:0001385
9 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
10 short stature 56 32 Occasional (29-5%) HP:0004322
11 broad thumb 56 32 Very frequent (99-80%) HP:0011304
12 flat face 56 32 Occasional (29-5%) HP:0012368
13 short philtrum 56 32 Occasional (29-5%) HP:0000322
14 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
15 open mouth 56 32 Occasional (29-5%) HP:0000194
16 brachydactyly syndrome 56 32 Frequent (79-30%) HP:0001156
17 turricephaly 56 32 Frequent (79-30%) HP:0000262
18 high forehead 56 32 Frequent (79-30%) HP:0000348
19 synostosis of carpal bones 56 32 Occasional (29-5%) HP:0005048
20 facial asymmetry 56 32 Occasional (29-5%) HP:0000324
21 symphalangism affecting the phalanges of the hand 56 32 Frequent (79-30%) HP:0009773
22 hydrocephalus 32 HP:0000238
23 intellectual disability 32 HP:0001249
24 depressed nasal bridge 32 HP:0005280
25 short nose 32 HP:0003196
26 cloverleaf skull 32 HP:0002676
27 strabismus 32 HP:0000486
28 coronal craniosynostosis 32 HP:0004440
29 arnold-chiari malformation 32 HP:0002308
30 hypoplasia of the maxilla 32 HP:0000327
31 dental crowding 32 HP:0000678
32 downslanted palpebral fissures 32 HP:0000494
33 choanal atresia 32 HP:0000453
34 cheekbone underdevelopment 56 Very frequent (99-80%)
35 brachyturricephaly 32 HP:0000244
36 choanal stenosis 32 HP:0000452
37 syndactyly 32 HP:0001159
38 elbow ankylosis 32 HP:0003070
39 humeroradial synostosis 32 HP:0003041
40 shortening of all middle phalanges of the fingers 32 HP:0006110
41 broad hallux 32 HP:0010055
42 shallow orbits 32 HP:0000586
43 bronchomalacia 32 HP:0002780
44 short middle phalanx of toe 32 HP:0003795
45 cartilaginous trachea 32 HP:0005347
46 hypoplasia of the zygomatic bone 32 HP:0010669

UMLS symptoms related to Pfeiffer Syndrome:


fever, pruritus

MGI Mouse Phenotypes related to Pfeiffer Syndrome:

44 (show all 23)
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.41 ALPL CD40LG COL1A1 CR2 FGF10 FGF7
2 growth/size/body region MP:0005378 10.4 TKT TPI1 TWIST1 ALPL COL1A1 COL3A1
3 homeostasis/metabolism MP:0005376 10.4 CD40LG COL1A1 COL3A1 CR2 FGF10 FGF7
4 immune system MP:0005387 10.39 SH2D1A TNFRSF8 TPI1 ALPL CD40LG COL1A1
5 cardiovascular system MP:0005385 10.38 FGFR1 FGFR2 FOSL1 RUNX2 TKT TWIST1
6 cellular MP:0005384 10.38 FGF8 FGFR1 FGFR2 FGFR3 RUNX2 SP7
7 mortality/aging MP:0010768 10.36 ALPL CD40LG COL1A1 COL3A1 CR2 FGF10
8 digestive/alimentary MP:0005381 10.28 ALPL COL1A1 COL3A1 FGF10 FGF8 FGFR1
9 endocrine/exocrine gland MP:0005379 10.27 ALPL CD40LG COL1A1 FGF10 FGF8 FGFR1
10 craniofacial MP:0005382 10.24 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
11 embryo MP:0005380 10.18 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
12 limbs/digits/tail MP:0005371 10.18 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
13 nervous system MP:0003631 10.18 ALPL CD40LG COL1A1 FGF10 FGF7 FGF8
14 integument MP:0010771 10.15 CD40LG COL1A1 COL3A1 FGF10 FGF7 FGFR1
15 adipose tissue MP:0005375 10.09 ALPL COL1A1 COL3A1 FGF10 FGFR2 TKT
16 muscle MP:0005369 10.09 ALPL COL1A1 COL3A1 FGF10 FGF8 FGFR1
17 hearing/vestibular/ear MP:0005377 10.02 FGFR1 FGFR2 FGFR3 COL1A1 FGF10 FGF8
18 normal MP:0002873 10.02 COL1A1 FGF10 FGF8 FGFR1 FGFR2 FGFR3
19 renal/urinary system MP:0005367 10.02 CR2 CD40LG COL1A1 TKT FGF10 FGF7
20 reproductive system MP:0005389 10 ALPL CD40LG COL1A1 FGF10 FGF7 FGF8
21 respiratory system MP:0005388 9.81 ALPL COL1A1 COL3A1 FGF10 FGF8 FGFR2
22 skeleton MP:0005390 9.77 ALPL CD40LG COL1A1 FGF10 FGF7 FGF8
23 vision/eye MP:0005391 9.28 RUNX2 TKT COL1A1 FGF10 FGF7 FGF8

Drugs & Therapeutics for Pfeiffer Syndrome

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

(show top 50) (show all 68)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 3,Phase 1
2 gamma-Globulins Phase 3
3 Immunoglobulin G Phase 3
4 Immunoglobulins Phase 3,Phase 1
5 Immunoglobulins, Intravenous Phase 3
6 Rho(D) Immune Globulin Phase 3
7
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
8
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
9
Lenograstim Approved Phase 2 135968-09-1
10
ponatinib Approved Phase 2 943319-70-8 24826799
11
Docetaxel Approved May 1996, Investigational Phase 2 114977-28-5 148124 9877265
12 Acyclovir Phase 1, Phase 2
13 Anti-Infective Agents Phase 1, Phase 2
14 Antiviral Agents Phase 1, Phase 2
15 valacyclovir Phase 1, Phase 2
16 Vaccines Phase 2
17 Antiemetics Phase 2,Phase 1
18 Anti-Inflammatory Agents Phase 2
19 Antimitotic Agents Phase 2
20 Antineoplastic Agents, Hormonal Phase 2
21 Autonomic Agents Phase 2
22 BB 1101 Phase 2
23 Dexamethasone 21-phosphate Phase 2
24 Dexamethasone acetate Phase 2 1177-87-3
25 Gastrointestinal Agents Phase 2
26 glucocorticoids Phase 2
27 HIV Protease Inhibitors Phase 2
28 Hormone Antagonists Phase 2
29 Hormones Phase 2
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
31 Peripheral Nervous System Agents Phase 2
32
protease inhibitors Phase 2
33 Analgesics Phase 2
34 Mitogens Phase 2,Phase 1
35 PONATINIB  Phase 2
36 Protein Kinase Inhibitors Phase 2
37 Liver Extracts Phase 1, Phase 2
38 tyrosine Nutraceutical Phase 1, Phase 2
39
Neomycin Approved, Vet_approved Phase 1 1404-04-2 8378
40
Azacitidine Approved, Investigational Phase 1 320-67-2 9444
41
Ondansetron Approved Phase 1 99614-02-5 4595
42
nivolumab Approved Phase 1 946414-94-4
43
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
44
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
45 Anti-Bacterial Agents Phase 1
46 Antimetabolites Phase 1
47 Antimetabolites, Antineoplastic Phase 1
48 Emetics Phase 1
49 Chelating Agents Phase 1
50 Antibodies, Monoclonal Phase 1

Interventional clinical trials:

(show top 50) (show all 58)
id Name Status NCT ID Phase
1 Acupuncture for Infectious Mononucleosis Trial Completed NCT00598988 Phase 2, Phase 3
2 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Recruiting NCT01376778 Phase 3
3 Controlled Trial of Valacyclovir in Infectious Mononucleosis Completed NCT00274404 Phase 1, Phase 2
4 Activity of Valomaciclovir in Infectious Mononucleosis Due to Primary Epstein-Barr Virus Infection Completed NCT00575185 Phase 1, Phase 2
5 Evaluation of Safety, Immune-Response and Efficacy of GSK Biologicals’ EBV (Epstein Barr Virus) Vaccine (268664). Completed NCT00430534 Phase 2
6 Accelerated Immunization to Induce Cytomegalovirus Immunity in Stem Cell Donors Completed NCT00353977 Phase 2
7 Carboplatin and Docetaxel Followed by Epstein-Barr Virus Cytotoxic T Lymphocytes Completed NCT00953420 Phase 2
8 Sedation Management in Pediatric Patients Supported on Mechanical Ventilation Completed NCT00142766 Phase 2
9 ARMS - Rapidly Generated Multivirus-Specific CTLs for the Prophylaxis And Treatment of EBV, CMV, Adenovirus, HHV6, and BK Virus Recruiting NCT01570283 Phase 1, Phase 2
10 A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma Recruiting NCT02150967 Phase 2
11 Dovitinib for Gastric Cancer With FGFR2 Amplification Recruiting NCT01719549 Phase 2
12 Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 Fusions Recruiting NCT02265341 Phase 2
13 Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic Alterations Active, not recruiting NCT01752920 Phase 1, Phase 2
14 Pan FGFR Kinase Inhibitor BGJ398 in Treating Patients With FGFR1-3 Translocated, Mutated, or Amplified Recurrent Head and Neck Cancer Not yet recruiting NCT02706691 Phase 2
15 Epstein Barr Virus (EBV) Specific Cytotoxic T-Cells, Relapsed Lymphoma, ANGEL Completed NCT00058617 Phase 1
16 T-Lymphocytes in Treating Patients With Epstein-Barr Virus-Positive Nasopharyngeal Cancer, NPC Completed NCT00609219 Phase 1
17 LMP1- and LMP2-Specific CTLs to Patients With EBV-Positive NPC (NATELLA) Completed NCT00516087 Phase 1
18 Treating Severe Chronic Epstein-Barr Virus (EBV) Infection With EBV Specific Cytotoxic T Lymphocytes (CTLs) Completed NCT00058591 Phase 1
19 Administration of Rapidly Generated Multivirus-specific Cytotoxic T-Lymphocytes (VIRAGE) Completed NCT01070797 Phase 1
20 Administration of Donor MultiTAA-Specific T Cells for ALL Recruiting NCT02475707 Phase 1
21 Administration of TAA-Specific CTLs; Hodgkin or Non-Hodgkin Lymphoma; TACTAL Recruiting NCT01333046 Phase 1
22 Administration of Donor Multi TAA-Specific T Cells for AML or MDS (ADSPAM) Recruiting NCT02494167 Phase 1
23 Cytotoxic T Cells to Treat Relapsed EBV-positive Lymphoma Recruiting NCT01956084 Phase 1
24 Nivolumab With Epstein Barr Virus Specific T Cells (EB-VSTS), Relapsed/Refractory EBV Positive Lymphoma (PREVALE) Recruiting NCT02973113 Phase 1
25 Most Closely Matched 3rd Party Rapidly Generated LMP, BARF1 And EBNA1 Specific CTL, EBV-Positive Lymphoma (MABEL) Recruiting NCT02287311 Phase 1
26 Cytotoxic T-Lymphocytes for EBV-positive Lymphoma, GRALE Recruiting NCT01555892 Phase 1
27 TGF-beta Resistant Cytotoxic T-lymphocytes in Treatment of EBV-positive Nasopharyngeal Carcinoma / RESIST-NPC Active, not recruiting NCT02065362 Phase 1
28 Most Closely HLA-Matched CTLs for Relapsed Epstein Barr Virus(EBV)-Associated Diseases Active, not recruiting NCT01447056 Phase 1
29 LMP-specific T-cells for Patients With Relapsed EBV-positive Lymphoma Active, not recruiting NCT00062868 Phase 1
30 T-cells or EBV Specific CTLs, Advanced B-Cell NHL and CLL Active, not recruiting NCT00709033 Phase 1
31 EBV CTLs Expressing CD30 Chimeric Receptors For CD 30+ Lymphoma Active, not recruiting NCT01192464 Phase 1
32 Autologous/Allogeneic TGFbeta-resistant LMP2A-specific CTL, Lymphoma (TGF-beta) Active, not recruiting NCT00368082 Phase 1
33 Blood T-Cells and EBV Specific CTLs Expressing GD-2 Specific Chimeric T Cell Receptors to Neuroblastoma Patients Active, not recruiting NCT00085930 Phase 1
34 Multi-virus CTLs Expressing CD19 Chimeric Receptors, CD19 Positive Malignancies Post SCT, MULTIPRAT Active, not recruiting NCT00840853 Phase 1
35 Giving Gene Marked EBV Specific T-Cells to Patients Receiving a BMT for Relapsed EBV-Positive Hodgkin Disease Terminated NCT00058773 Phase 1
36 Lmp1 and Lmp2 Specific CTLs Following Cd45 Antibody for Relapsed Ebv-Positive Hodgkin's Or Non-Hodgkin's Lymphoma Terminated NCT00383097 Phase 1
37 LMP2a-Specific Cytotoxic T-Lymphocytes, Lymphoma (ACDAL) Terminated NCT00082225 Phase 1
38 Phase I, Dose-escalation Trial of BAY1187982 in Subjects With Advanced Solid Tumors Known to Express Fibroblast Growth Factor Receptor 2 (FGFR2) Terminated NCT02368951 Phase 1
39 HIV Indicator Diseases Across Europe Study Unknown status NCT01681706
40 Genetic Studies of X-linked Lymphoproliferative Disease Completed NCT00359411
41 Prospective Study of Possible Infectious Disease - Associated Antigen Drive in Previously Untreated Indolent Lymphoma Completed NCT00582270
42 Effects of Long-Term Treatment With Valaciclovir (Valtrex) on Epstein-Barr Virus Completed NCT00005924
43 Protein Studies of the Epstein-Barr Virus in Ethnically Diverse Populations Completed NCT00070785
44 Protein, Fiber, and Metabolic Syndrome - The PROFIMET Study Completed NCT00579657
45 Effects of (1,3), (1,6)-Beta-D-glucan on Insulin Sensitivity and Inflammatory Markers of the Metabolic Syndrome Completed NCT00403689
46 Acute Effects of Glucose Dependent Insulinotropic Polypeptide (GIP) on Subcutaneous Adipose Tissue Completed NCT00774488
47 Comparison of a Plant Protein Diet to a Animal Protein Diet Emphasized in Type 2 Diabetics Completed NCT02402985
48 OPTIFIT-Optimal Fiber Trial for Diabetes Prevention Completed NCT01681173
49 Early ART Initiation Among HIV-positive Pregnant Women in Central Mozambique Completed NCT02371265
50 The Use of Point-of-Care Ultrasound in the Diagnosis of Acute Infectious Mononucleosis in the Emergency Department Recruiting NCT02463669

Search NIH Clinical Center for Pfeiffer Syndrome

Cochrane evidence based reviews: infectious mononucleosis

Genetic Tests for Pfeiffer Syndrome

Genetic tests related to Pfeiffer Syndrome:

id Genetic test Affiliating Genes
1 Pfeiffer Syndrome 29

Anatomical Context for Pfeiffer Syndrome

MalaCards organs/tissues related to Pfeiffer Syndrome:

39
Bone, Eye, Testes, Monocytes, Spleen, Trachea

The Foundational Model of Anatomy Ontology organs/tissues related to Pfeiffer Syndrome:

18
Skull

Publications for Pfeiffer Syndrome

Articles related to Pfeiffer Syndrome:

(show top 50) (show all 115)
id Title Authors Year
1
Cochlear Implantation in a Patient With Pfeiffer Syndrome and Temporal Bone Vascular Anomalies. ( 26825670 )
2016
2
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. ( 27762162 )
2016
3
The ophthalmic sequelae of Pfeiffer syndrome and the long-term visual outcomes after craniofacial surgery. ( 27418250 )
2016
4
Avoidance of a potential tracheoinnominate fistula by innominate artery re-implantation in a four year old girl with tracheostomy dependence and Pfeiffer syndrome. ( 26810298 )
2016
5
Clinical Image - Radiographic manifestations in Pfeiffer syndrome. ( 25892094 )
2015
6
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. ( 26096994 )
2015
7
A Delayed Finding of a Tracheal Cartilaginous Sleeve in a Patient with Pfeiffer Syndrome Type 2 and a Complex Airway History. ( 26230305 )
2015
8
Describing Crouzon and Pfeiffer syndrome based on principal component analysis. ( 25792443 )
2015
9
Premature Closure of the Spheno-occipital Synchondrosis in Pfeiffer Syndrome: A Link to Midface Hypoplasia. ( 24406578 )
2014
10
Pfeiffer syndrome: the importance of prenatal diagnosis. ( 25183684 )
2014
11
Pfeiffer syndrome. ( 24891917 )
2014
12
Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families. ( 25129254 )
2014
13
Upper extremity anomalies in Pfeiffer syndrome and mutational correlations. ( 24776567 )
2014
14
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. ( 25251565 )
2014
15
The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself. ( 23532954 )
2013
16
Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis. ( 24411056 )
2013
17
Pfeiffer syndrome: analysis of a clinical series and development of a classification system. ( 23348287 )
2013
18
Pfeiffer Syndrome Type 3, a rare and unusual Craniosynostosis: Case reports from Korle Bu Teaching Hospital, Accra,Ghana. ( 24122692 )
2013
19
FGFR mutation in Pfeiffer syndrome. ( 23851850 )
2013
20
FGFR1 and FGFR2 mutations in Pfeiffer syndrome. ( 23348274 )
2013
21
Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks' gestation. ( 23550868 )
2013
22
Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome. ( 24036790 )
2013
23
Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan. ( 22965899 )
2012
24
Pfeiffer syndrome type II discovered perinatally: Report of an observation and review of the literature. ( 22921691 )
2012
25
Unique airway finding in a case of Pfeiffer syndrome and its management. ( 21897525 )
2011
26
Biological effect of resorbable plates on normal osteoblasts and osteoblasts derived from Pfeiffer syndrome. ( 21558934 )
2011
27
Intubation using a "bonfils fiberscope" in a patient with pfeiffer syndrome. ( 23208638 )
2011
28
Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome: an overview of physical, neurological, and oral characteristics. ( 20129888 )
2010
29
A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings. ( 20809772 )
2010
30
Audiologic findings in Pfeiffer syndrome. ( 20856029 )
2010
31
A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene. ( 21189955 )
2010
32
Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis. ( 20186072 )
2010
33
Intestinal malrotation in a patient with Pfeiffer syndrome type 2. ( 20509766 )
2010
34
Pyrexia after transcranial surgery for Pfeiffer syndrome. ( 19242364 )
2009
35
Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement. ( 19390453 )
2009
36
Pfeiffer syndrome: a treatment evaluation. ( 19407629 )
2009
37
Cleft palate in Pfeiffer syndrome. ( 19816260 )
2009
38
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. ( 19066959 )
2009
39
Monoblock craniofacial internal distraction in a child with Pfeiffer syndrome: a case report. ( 18437024 )
2008
40
High-grade vesicoureteral reflux in Pfeiffer syndrome. ( 18825630 )
2008
41
A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia. ( 18671283 )
2008
42
Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation. ( 18618990 )
2008
43
A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage. ( 18049087 )
2008
44
Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation. ( 18541976 )
2008
45
Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of treatment, and risk factors. ( 18216676 )
2008
46
Tracheal cartilaginous sleeve with cricoid cartilage involvement in Pfeiffer syndrome. ( 16633174 )
2006
47
Pfeiffer syndrome. ( 16740155 )
2006
48
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. ( 16957473 )
2006
49
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. ( 16418739 )
2006
50
Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in utero. ( 16490997 )
2006

Variations for Pfeiffer Syndrome

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

66 (show all 19)
id Symbol AA change Variation ID SNP ID
1 FGFR1 p.Pro252Arg VAR_004111 rs121909627
2 FGFR2 p.Ser252Trp VAR_004115 rs79184941
3 FGFR2 p.Cys278Phe VAR_004121 rs776587763
4 FGFR2 p.Trp290Cys VAR_004124 rs121918499
5 FGFR2 p.Asp321Ala VAR_004129 rs121918510
6 FGFR2 p.Thr341Pro VAR_004135 rs121918495
7 FGFR2 p.Cys342Arg VAR_004137 rs121918488
8 FGFR2 p.Cys342Ser VAR_004138 rs121918488
9 FGFR2 p.Cys342Tyr VAR_004139 rs121918487
10 FGFR2 p.Ala344Pro VAR_004141
11 FGFR2 p.Ser351Cys VAR_004143 rs121918502
12 FGFR2 p.Val359Phe VAR_004146
13 FGFR2 p.Ala172Phe VAR_017259
14 FGFR2 p.Tyr340Cys VAR_017269
15 FGFR2 p.Cys342Gly VAR_017270
16 FGFR2 p.Tyr375Cys VAR_017275 rs121913478
17 FGFR2 p.Glu565Gly VAR_017277
18 FGFR2 p.Lys641Arg VAR_017278
19 FGFR2 p.Gly663Glu VAR_017280

ClinVar genetic disease variations for Pfeiffer Syndrome:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121918487 GRCh37 Chromosome 10, 123276892: 123276892
2 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
3 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
4 FGFR2 NM_000141.4(FGFR2): c.1021A> C (p.Thr341Pro) single nucleotide variant Pathogenic rs121918495 GRCh37 Chromosome 10, 123276896: 123276896
5 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh37 Chromosome 10, 123279566: 123279566
6 FGFR2 NM_000141.4(FGFR2): c.870G> C (p.Trp290Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918499 GRCh37 Chromosome 10, 123279562: 123279562
7 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 GRCh37 Chromosome 10, 123276865: 123276865
8 FGFR2 NM_000141.4(FGFR2): c.817_819delGAC (p.Asp273del) deletion Pathogenic rs121918503 GRCh37 Chromosome 10, 123279613: 123279615
9 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh37 Chromosome 10, 123279633: 123279633
10 FGFR2 NM_000141.4(FGFR2): c.940-1G> A single nucleotide variant Pathogenic rs879253719 GRCh37 Chromosome 10, 123276978: 123276978
11 FGFR2 NM_000141.4(FGFR2): c.940-3_946delinsACC indel Pathogenic
12 FGFR2 NM_000141.4(FGFR2): c.870G> T (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh37 Chromosome 10, 123279562: 123279562
13 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121918506 GRCh37 Chromosome 10, 123256215: 123256215
14 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 GRCh38 Chromosome 10, 121517316: 121517316
15 FGFR2 NM_000141.4(FGFR2): c.962A> C (p.Asp321Ala) single nucleotide variant Pathogenic rs121918510 GRCh37 Chromosome 10, 123276955: 123276955
16 FGFR1 NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg) single nucleotide variant Pathogenic rs121909627 GRCh37 Chromosome 8, 38282208: 38282208
17 FGFR2 NM_000141.4(FGFR2): c.864_881del18 (p.Ile288_Val294delinsMet) deletion Pathogenic rs886037837 GRCh37 Chromosome 10, 123279551: 123279568
18 FGFR2 NM_000141.4(FGFR2): c.833G> T (p.Cys278Phe) single nucleotide variant Pathogenic rs776587763 GRCh37 Chromosome 10, 123279599: 123279599
19 FGFR2 NM_000141.4(FGFR2): c.1922A> G (p.Lys641Arg) single nucleotide variant Likely pathogenic rs1057519047 GRCh37 Chromosome 10, 123247569: 123247569
20 FGFR2 NM_000141.4(FGFR2): c.1694A> G (p.Glu565Gly) single nucleotide variant Likely pathogenic rs121918506 GRCh37 Chromosome 10, 123256215: 123256215
21 FGFR2 NM_000141.4(FGFR2): c.1024T> G (p.Cys342Gly) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
22 FGFR2 NM_000141.4(FGFR2): c.940-2A> G single nucleotide variant Pathogenic rs1057519041 GRCh38 Chromosome 10, 121517465: 121517465
23 FGFR2 NM_022970.3(FGFR2): c.833_834delGCinsTA (p.Cys278Leu) indel Likely pathogenic rs1057519037 GRCh37 Chromosome 10, 123279598: 123279599

Expression for Pfeiffer Syndrome

Search GEO for disease gene expression data for Pfeiffer Syndrome.

Pathways for Pfeiffer Syndrome

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

(show all 41)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 CD40LG COL1A1 COL3A1 FGF10 FGF7 FGF8
2
Show member pathways
13.45 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
3
Show member pathways
13.4 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
4
Show member pathways
13.33 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
5
Show member pathways
13.28 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
6
Show member pathways
13.09 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
7
Show member pathways
13.03 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
8
Show member pathways
13.02 COL1A1 COL3A1 FGF10 FGF7 FGF8 FGFR1
9
Show member pathways
13 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.84 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.73 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.72 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
13 12.67 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
14 12.62 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
15 12.58 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.56 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.53 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
18
Show member pathways
12.4 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.31 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.31 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.21 COL1A1 FGFR1 FGFR2 FGFR3
22 12.09 FGFR1 FGFR2 FGFR3 SH2D1A
23 12.03 COL1A1 FGF10 FGF7 FGF8 FGFR1 FGFR2
24
Show member pathways
11.92 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
25 11.79 FGFR1 FGFR2 FGFR3
26 11.79 FGF10 FGF8 FGFR1 FGFR3
27 11.73 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
28 11.7 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
29 11.66 FGFR1 FGFR2 FGFR3
30 11.66 ALPL FGFR1 FGFR3 RUNX2
31 11.64 BGLAP FGF10 FGF8 RUNX2 SP7
32 11.61 CD40LG COL3A1 TNFRSF8
33 11.56 CD40LG CR2 TNFRSF8
34 11.51 BGLAP RUNX2 TWIST1
35 11.48 FGFR1 FGFR2 FGFR3
36 11.47 BGLAP FGFR1 FGFR2 RUNX2
37 11.43 BGLAP COL1A1 FOSL1 RUNX2
38 11.4 BGLAP COL1A1 RUNX2
39 11.32 CD40LG COL1A1 COL3A1
40
Show member pathways
11.3 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
41 10.83 BGLAP COL1A1

GO Terms for Pfeiffer Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.36 ALPL BGLAP CD40LG COL1A1 COL3A1 FGF10

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

(show top 50) (show all 71)
id Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.98 BGLAP FGF10 FGF8 FOSL1
2 peptidyl-tyrosine phosphorylation GO:0018108 9.95 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
3 lung development GO:0030324 9.93 FGF10 FGF8 FGFR1 FGFR2
4 wound healing GO:0042060 9.92 COL1A1 COL3A1 FGF10 FGFR2
5 ossification GO:0001503 9.92 BGLAP COL1A1 RUNX2 TWIST1
6 positive regulation of MAPK cascade GO:0043410 9.91 FGF10 FGFR1 FGFR2 FGFR3
7 response to mechanical stimulus GO:0009612 9.91 BGLAP COL1A1 COL3A1 FOSL1
8 phosphatidylinositol-mediated signaling GO:0048015 9.91 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
9 inner ear morphogenesis GO:0042472 9.9 FGF10 FGF8 FGFR1 FGFR2
10 positive regulation of epithelial cell proliferation GO:0050679 9.89 FGF10 FGF7 FGFR2 TWIST1
11 bone development GO:0060348 9.88 BGLAP FGF8 FGFR2 TWIST1
12 osteoblast differentiation GO:0001649 9.88 ALPL BGLAP COL1A1 RUNX2 SP7 TWIST1
13 positive regulation of cell division GO:0051781 9.87 FGF7 FGF8 FGFR2
14 chondrocyte differentiation GO:0002062 9.87 FGFR1 FGFR3 RUNX2
15 positive regulation of cell cycle GO:0045787 9.86 FGFR1 FGFR2 FOSL1
16 skeletal system morphogenesis GO:0048705 9.86 COL1A1 FGFR1 FGFR2 RUNX2
17 positive chemotaxis GO:0050918 9.85 FGF10 FGF7 FGF8
18 bone mineralization GO:0030282 9.85 BGLAP FGFR2 FGFR3
19 embryonic cranial skeleton morphogenesis GO:0048701 9.85 FGFR2 RUNX2 TWIST1
20 digestive tract development GO:0048565 9.85 COL3A1 FGF10 FGFR2
21 phosphatidylinositol phosphorylation GO:0046854 9.85 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
22 hair follicle morphogenesis GO:0031069 9.84 FGF10 FGF7 FGFR2
23 odontogenesis GO:0042476 9.83 BGLAP FGF8 FGFR2 TWIST1
24 endochondral ossification GO:0001958 9.81 ALPL COL1A1 FGFR3 RUNX2
25 fibroblast growth factor receptor signaling pathway GO:0008543 9.8 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
26 organ induction GO:0001759 9.75 FGF10 FGF8 FGFR1
27 regulation of osteoblast differentiation GO:0045667 9.74 FGFR2 RUNX2
28 pentose-phosphate shunt GO:0006098 9.74 TKT TPI1
29 mesonephros development GO:0001823 9.74 FGF10 FGF8
30 generation of neurons GO:0048699 9.74 FGF8 FGFR1
31 organ growth GO:0035265 9.74 FGF10 FGFR2
32 salivary gland morphogenesis GO:0007435 9.74 FGF10 FGFR1
33 limb bud formation GO:0060174 9.74 FGF10 FGFR2
34 lung-associated mesenchyme development GO:0060484 9.73 FGFR1 FGFR2
35 mesenchymal cell differentiation GO:0048762 9.73 FGFR1 FGFR2
36 response to gravity GO:0009629 9.73 BGLAP FOSL1
37 outer ear morphogenesis GO:0042473 9.73 FGFR1 TWIST1
38 positive regulation of keratinocyte proliferation GO:0010838 9.73 FGF10 FGF7
39 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.73 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
40 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.72 FGFR2 RUNX2
41 positive regulation of keratinocyte migration GO:0051549 9.72 FGF10 FGF7
42 endochondral bone growth GO:0003416 9.72 FGFR2 FGFR3
43 positive regulation of phospholipase activity GO:0010518 9.72 FGFR1 FGFR2 FGFR3
44 lacrimal gland development GO:0032808 9.71 FGF10 FGFR2
45 epidermis morphogenesis GO:0048730 9.71 FGF10 FGFR2
46 bud elongation involved in lung branching GO:0060449 9.71 FGF10 FGFR2
47 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.71 FGF7 FGFR2
48 positive regulation of DNA-templated transcription, initiation GO:2000144 9.71 FOSL1 TWIST1
49 otic vesicle formation GO:0030916 9.71 FGF10 FGF8 FGFR2
50 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.7 FGF10 FGFR2

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.76 FGF10 FGF7 FGFR1 FGFR2
2 protein tyrosine kinase activity GO:0004713 9.73 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.65 FGFR1 FGFR2 FGFR3
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.63 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
5 chemoattractant activity GO:0042056 9.61 FGF10 FGF7 FGF8
6 fibroblast growth factor receptor binding GO:0005104 9.58 FGF10 FGF7 FGF8
7 fibroblast growth factor binding GO:0017134 9.54 FGFR1 FGFR2 FGFR3
8 fibroblast growth factor-activated receptor activity GO:0005007 9.5 FGFR1 FGFR2 FGFR3
9 platelet-derived growth factor binding GO:0048407 9.49 COL1A1 COL3A1
10 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.43 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
11 1-phosphatidylinositol-3-kinase activity GO:0016303 9.1 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3

Sources for Pfeiffer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....