PS
MCID: PFF001
MIFTS: 78

Pfeiffer Syndrome (PS)

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

Aliases & Classifications for Pfeiffer Syndrome

MalaCards integrated aliases for Pfeiffer Syndrome:

Name: Pfeiffer Syndrome 57 41 12 76 53 25 59 75 37 29 13 55 6 15 40 73
Infectious Mononucleosis 41 12 55 43 3 44 15 73
Craniofacial-Skeletal-Dermatologic Dysplasia 57 53 25 13 6
Acs5 57 53 25 59 75
Acrocephalosyndactyly Type 5 53 59 75
Noack Syndrome 57 53 25
Acs V 57 25 75
Pfeiffer Type Acrocephalosyndactyly 53 73
Acrocephalosyndactyly, Type V 57 25
Dysplasia, Craniofacial-Skeletal-Dermatologic 40
Craniofacial-Skeletal-Dermatologic Syndrome 53
Acrocephalosyndactyly, Type V; Acs5 57
Gammaherpesviral Mononucleosis 12
Acrocephalosyndactylia Type V 12
Acrocephalosyndactyly, Type 5 53
Pfeiffer Syndrome, Type Iii 6
Classic Pfeiffer Syndrome 59
Pfeiffer Syndrome Variant 6
Pfeiffer Syndrome Type 3 59
Pfeiffer Syndrome Type 2 59
Pfeiffer Syndrome Type 1 59
Pfeiffer's Disease 12
Filatov's Disease 12
Monocytic Angina 12
Glandular Fever 12
Mononucleosis 12
Acsv 53
Ps 75

Characteristics:

Orphanet epidemiological data:

59
pfeiffer syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;
pfeiffer syndrome type 3
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;
pfeiffer syndrome type 2
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;
pfeiffer syndrome type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant
type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic
type 3: craniosynostosis, early demise, sporadic


HPO:

32
pfeiffer syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pfeiffer Syndrome

OMIM : 57 Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome. (101600)

MalaCards based summary : Pfeiffer Syndrome, also known as infectious mononucleosis, is related to crouzon syndrome and craniosynostosis, and has symptoms including fever and pruritus. An important gene associated with Pfeiffer Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Docetaxel and Antimitotic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and testes, and related phenotypes are malar flattening and hypertelorism

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 : 53 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.

MedlinePlus : 43 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 Bromobenzylcyanide (CA), Chloroacetophenone (CN), Chlorobenzylidenemalononitrile (CS), Chloropicrin (PS), Dibenzoxazepine (CR)

UniProtKB/Swiss-Prot : 75 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 : 76 Pfeiffer syndrome is a very rare genetic disorder characterized by the premature fusion of certain bones... more...

Related Diseases for Pfeiffer Syndrome

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

(show top 50) (show all 393)
# Related Disease Score Top Affiliating Genes
1 crouzon syndrome 30.4 FGFR3 FGFR2 FGFR1
2 craniosynostosis 30.3 TWIST1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
3 achondroplasia 30.2 FGFR3 FGFR2 FGFR1
4 saethre-chotzen syndrome 30.1 TWIST1 RUNX2 FGFR3 FGFR2 FGFR1 BGLAP
5 ankylosis 29.9 SP7 RUNX2 FGFR2 BGLAP
6 lymphoma, non-hodgkin, familial 29.4 TNFRSF8 TLR9 SH2D1A CR2
7 lymphoproliferative syndrome, x-linked, 1 12.2
8 winkelman bethge pfeiffer syndrome 12.0
9 chronic active epstein-barr virus infection 11.6
10 cytomegalovirus infection 11.6
11 cytomegalic inclusion disease 11.5
12 kleeblattschaedel 11.4
13 proteus syndrome 11.2
14 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.2
15 scott syndrome 11.2
16 post-transplant lymphoproliferative disease 11.1
17 salivary gland disease 11.1
18 neurological consequences of cytomegalovirus infection 11.1
19 polydactyly, preaxial ii 11.1
20 perlman syndrome 11.0
21 central nervous system disease 11.0
22 foxp2-related speech and language disorders 11.0
23 ulna and fibula, hypoplasia of 11.0
24 pituitary hormone deficiency, combined, 3 11.0
25 lymphoproliferative syndrome, x-linked, 2 11.0
26 cmv antenatal infection 11.0
27 viral infectious disease 10.5
28 lymphoma 10.5
29 multiple sclerosis 10.5
30 hepatitis 10.4
31 frasier syndrome 10.3
32 hemifacial hyperplasia 10.3 FGFR3 FGFR2
33 arthritis 10.3
34 tonsillitis 10.3
35 acanthoma 10.3 FGFR2 FGF10
36 hemolytic anemia 10.3
37 thrombocytopenia 10.3
38 splenic infarction 10.3
39 isolated plagiocephaly 10.3 TWIST1 FGFR3
40 osteoglophonic dysplasia 10.3 FGFR3 FGFR2 FGFR1
41 jackson-weiss syndrome 10.2 FGFR3 FGFR2 FGFR1
42 radioulnar synostosis 10.2 FGFR3 FGFR2 FGFR1
43 isolated brachycephaly 10.2 TWIST1 FGFR3
44 hypochondroplasia 10.2 FGFR3 FGFR2 FGFR1
45 rheumatoid arthritis 10.2
46 leukemia 10.2
47 urticaria 10.2
48 cholecystitis 10.2
49 immunodeficiency 32b 10.2
50 deafness, autosomal recessive 51 10.2 FGFR3 FGF8

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



Diseases related to Pfeiffer Syndrome

Symptoms & Phenotypes for Pfeiffer Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
proptosis
shallow orbits
downslanting palpebral fissures

Skeletal Hands:
broad thumb
partial syndactyly of fingers and toes
brachymesophalangy of hands and feet

Head And Neck Face:
maxillary hypoplasia
mandibular prognathism

Head And Neck Head:
turribrachycephaly
clover-leaf skull (in some patients)

Respiratory Airways:
cartilaginous trachea
laryngo-, tracheo-, bronchomalacia

Skeletal Limbs:
radiohumeral synostosis of elbow

Neurologic Central Nervous System:
hydrocephalus
arnold-chiari malformation
occasional mental retardation

Head And Neck Teeth:
dental crowding

Head And Neck Nose:
low nasal bridge
small nose
choanal atresia or stenosis

Head And Neck Mouth:
high-arched palate

Skeletal Skull:
craniosynostosis (coronal with or without sagittal suture)

Skeletal Feet:
broad great toe


Clinical features from OMIM:

101600

Human phenotypes related to Pfeiffer Syndrome:

59 32 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000316
3 low-set ears 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000369
4 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
5 finger syndactyly 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0006101
6 high palate 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000218
7 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
8 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
9 intellectual disability 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001249
10 seizures 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001250
11 aqueductal stenosis 59 32 occasional (7.5%) Very frequent (99-80%),Frequent (79-30%),Occasional (29-5%) HP:0002410
12 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
13 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
14 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000365
15 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
16 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
17 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002516
18 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0005280
19 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
20 short nose 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0003196
21 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
22 broad hallux phalanx 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0010059
23 broad thumb 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0011304
24 laryngomalacia 59 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001601
25 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
26 cleft palate 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000175
27 cloverleaf skull 59 32 occasional (7.5%) Very frequent (99-80%) HP:0002676
28 respiratory distress 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002098
29 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
30 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001376
31 short foot 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001773
32 flat face 59 32 occasional (7.5%) Occasional (29-5%) HP:0012368
33 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
34 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
35 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
36 small hand 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0200055
37 arnold-chiari malformation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002308
38 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
39 open mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000194
40 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
41 anal atresia 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002023
42 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
43 turricephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000262
44 choanal atresia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000453
45 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002566
46 amblyopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000646
47 high forehead 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000348
48 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0011800
49 proptosis 59 32 frequent (33%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0000520
50 short hallux 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0010109

UMLS symptoms related to Pfeiffer Syndrome:


fever, pruritus

MGI Mouse Phenotypes related to Pfeiffer Syndrome:

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 ALPL CD40LG COL1A1 COL3A1 FGF10 FGF8
2 hematopoietic system MP:0005397 10.41 ALPL CD40LG COL1A1 CR2 FGF10 FGF7
3 homeostasis/metabolism MP:0005376 10.4 ALPL CD40LG COL1A1 COL3A1 CR2 FGF10
4 immune system MP:0005387 10.39 ALPL CD40LG COL1A1 COL3A1 CR2 FGF10
5 cardiovascular system MP:0005385 10.38 ALPL CD40LG COL1A1 COL3A1 FGF10 FGF8
6 growth/size/body region MP:0005378 10.37 ALPL COL1A1 COL3A1 FGF10 FGF7 FGF8
7 mortality/aging MP:0010768 10.36 ALPL CD40LG COL1A1 COL3A1 CR2 FGF10
8 digestive/alimentary MP:0005381 10.32 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 renal/urinary system MP:0005367 10.06 CD40LG COL1A1 CR2 FGF10 FGF7 FGF8
18 hearing/vestibular/ear MP:0005377 10.02 COL1A1 FGF10 FGF8 FGFR1 FGFR2 FGFR3
19 reproductive system MP:0005389 10 ALPL CD40LG COL1A1 FGF10 FGF7 FGF8
20 normal MP:0002873 9.97 COL1A1 FGF10 FGF8 FGFR1 FGFR2 FGFR3
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 COL1A1 FGF10 FGF7 FGF8 FGFR1 FGFR2

Drugs & Therapeutics for Pfeiffer Syndrome

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Docetaxel Approved, Investigational Phase 2, Phase 3 114977-28-5 148124
2 Antimitotic Agents Phase 2, Phase 3
3
Ponatinib Approved, Investigational Phase 2 943319-70-8 24826799
4 Mitogens Phase 1, Phase 2,Phase 2
5 Liver Extracts Phase 2,Phase 1
6 tyrosine Phase 1, Phase 2
7 Protein Kinase Inhibitors Phase 2
8 Antibodies Phase 1
9 Immunoglobulins Phase 1

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Study of Oral Infigratinib in First Line Cholangiocarcinoma With FGFR2 Gene Fusions/Translocations Not yet recruiting NCT03773302 Phase 3 BGJ398;Gemcitabine;Cisplatin
2 A Study of Bemarituzumab (FPA144) Combined With Modified FOLFOX6 (mFOLFOX6) in Gastric/Gastroesophageal Junction Cancer (FIGHT) Recruiting NCT03694522 Phase 3 bemarituzumab (FPA144);Placebo;mFOLFOX6
3 Lung-MAP: AZD4547 as Second-Line Therapy in Treating FGFR Positive Patients With Recurrent Stage IV Squamous Cell Lung Cancer Active, not recruiting NCT02965378 Phase 2, Phase 3 Docetaxel;FGFR Inhibitor AZD4547
4 Derazantinib in Subjects With FGFR2 Gene Fusion Positive Inoperable or Advanced Intrahepatic Cholangiocarcinoma Recruiting NCT03230318 Phase 2 derazantinib
5 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 ARQ 087
6 A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma Recruiting NCT02150967 Phase 2 BGJ398 (infigratinib)
7 A Study of TAS-120 in Patients With Advanced Solid Tumors Recruiting NCT02052778 Phase 1, Phase 2 TAS-120
8 Dovitinib for Gastric Cancer With FGFR2 Amplification Completed NCT01719549 Phase 2 Dovitinib
9 Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 Fusions Active, not recruiting NCT02265341 Phase 2 Ponatinib Hydrochloride
10 Study of Ponatinib (Iclusig) for Prevention of Relapse After Allogeneic Stem Cell Transplantation (Allo-SCT) in FLT3-ITD AML Patients Not yet recruiting NCT03690115 Phase 2 Ponatinib 30 MG
11 pazopanib_NCRCC,Ph2 STUDY Completed NCT01538238 Phase 2 pazopanib
12 BGJ398 in Treating Patients With FGFR Positive Recurrent Head and Neck Cancer Recruiting NCT02706691 Phase 2 BGJ398
13 Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03210714 Phase 2 Erdafitinib
14 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 BAY1187982
15 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
16 Observing the Relationship of Fibroblast Growth Factor and Fibroblast in Thyroid Eye Disease Recruiting NCT03324022

Search NIH Clinical Center for Pfeiffer Syndrome

Cochrane evidence based reviews: infectious mononucleosis

Genetic Tests for Pfeiffer Syndrome

Genetic tests related to Pfeiffer Syndrome:

# Genetic test Affiliating Genes
1 Pfeiffer Syndrome 29 FGFR1 FGFR2

Anatomical Context for Pfeiffer Syndrome

MalaCards organs/tissues related to Pfeiffer Syndrome:

41
Bone, T Cells, Testes, Spleen, Eye, Monocytes, B Cells

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

19
Skull

Publications for Pfeiffer Syndrome

Articles related to Pfeiffer Syndrome:

(show top 50) (show all 580)
# Title Authors Year
1
Minimally Invasive Hallux Interphalangeal Joint Arthrodesis for Hallux Varus in Pfeiffer Syndrome: A Case Report. ( 29103889 )
2018
2
VARIABLE PRENATAL PRESENTATION OF PFEIFFER SYNDROME: SUGGESTED AIDS TO PRENATAL SONOGRAPHIC DIAGNOSIS. ( 29436723 )
2018
3
Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review. ( 29782338 )
2018
4
Infectious mononucleosis. ( 30358681 )
2018
5
How Safe is It to Prescribe Cephalosporins in Patients with Infectious Mononucleosis? Implications for Clinical ENT Practice. ( 30319879 )
2018
6
Sensitization to amoxicillin/clavulanic acid may underlie severe rashes in children treated for infectious mononucleosis. ( 30009989 )
2018
7
Spontaneously Ruptured Spleen Samples in Patients With Infectious Mononucleosis: Analysis of Histology and Lymphoid Subpopulations. ( 30007337 )
2018
8
Fever of unknown origin (FUO): CMV infectious mononucleosis or lymphoma? ( 29679253 )
2018
9
Letter to the Editor: Infectious Mononucleosis and Cholestatic Hepatitis. ( 29573774 )
2018
10
Multiple Pulmonary Nodules in an Immunocompetent Adolescent with Infectious Mononucleosis. ( 29503273 )
2018
11
Infectious mononucleosis and hepatic function. ( 29456696 )
2018
12
What Elements Suggest Infectious Mononucleosis? ( 28712603 )
2018
13
Splenic Infarction: An Under-recognized Complication of Infectious Mononucleosis? ( 29577060 )
2018
14
Overcorrected Midface Advancement to Improve Airway Problems in Severe Pfeiffer Syndrome Types II and III. ( 30444777 )
2018
15
Ultrasound diagnosis of tracheal cartilaginous sleeve in a patient with Pfeiffer syndrome. ( 30022259 )
2018
16
Infectious Mononucleosis and Lyme Disease as Confounding Diagnoses: A Report of 2 Cases. ( 30166498 )
2018
17
Fatal Septic Shock in a Patient with Hemophagocytic Lymphohistiocytosis Associated with an Infectious Mononucleosis. ( 30356381 )
2018
18
A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality. ( 29915381 )
2018
19
Fulminant descending mediastinitis secondary to infectious mononucleosis. ( 30093999 )
2018
20
Dynamics of Viral and Host Immune Cell MicroRNA Expression during Acute Infectious Mononucleosis. ( 29379474 )
2017
21
Low uric acid level increases the risk of infectious mononucleosis and this effect is more pronounced in women. ( 29285370 )
2017
22
Severity of Acute Infectious Mononucleosis Correlates with Cross-Reactive Influenza CD8 T-Cell Receptor Repertoires. ( 29208744 )
2017
23
Traumatic Haemorrhagic Cervical Lymphadenopathy with Underlying Infectious Mononucleosis. ( 29181217 )
2017
24
Season of infectious mononucleosis as a risk factor for multiple sclerosis: A UK primary care case-control study. ( 29055437 )
2017
25
Splenic infarct in a patient with Infectious Mononucleosis: a rare presentation. ( 29046754 )
2017
26
Severe infectious mononucleosis in immunocompetent adults. ( 28987291 )
2017
27
Infectious mononucleosis-like syndrome with high lymphocytosis and positive IgM EBV and CMV antibodies in a three-year-old girl. ( 28860939 )
2017
28
Pancreatitis Combined with Epstein-Barr Virus-induced Infectious Mononucleosis. ( 28776557 )
2017
29
An infant with concurrent serotype 6C invasive pneumococcal disease and infectious mononucleosis. ( 28729050 )
2017
30
A Prospective Study of Infectious Mononucleosis in College Students. ( 28717787 )
2017
31
Spontaneous Rupture of the Spleen due to Infectious Mononucleosis. ( 28686239 )
2017
32
Infectious mononucleosis and multiple sclerosis - Updated review on associated risk. ( 28619433 )
2017
33
Fluorescence in situ hybridization is superior for monitoring Epstein Barr viral load in infectious mononucleosis patients. ( 28468603 )
2017
34
Anti-MOG antibody-positive ADEM following infectious mononucleosis due to a primary EBV infection: a case report. ( 28420330 )
2017
35
Acute kidney injury in symptomatic primary Epstein-Barr virus infectious mononucleosis: Systematic review. ( 28410496 )
2017
36
Conjunctival tumor caused by Epstein-Barr virus-related infectious mononucleosis: Case report and review of literature. ( 28388350 )
2017
37
Regulatory network analysis of Epstein-Barr virus identifies functional modules and hub genes involved in infectious mononucleosis. ( 28155194 )
2017
38
Comprehensive assessment of peripheral blood TCR╬▓ repertoire in infectious mononucleosis and chronic active EBV infection patients. ( 28091735 )
2017
39
Agranulocytosis occurrence following recent acute infectious mononucleosis. ( 27912922 )
2017
40
Infectious mononucleosis with unusual clinical manifestations. ( 27751509 )
2017
41
High Epstein-Barr Virus Load and Genomic Diversity Are Associated with Generation of gp350-Specific Neutralizing Antibodies following Acute Infectious Mononucleosis. ( 27733645 )
2017
42
Bilateral isolated facial palsy with fast recovery in infectious mononucleosis. ( 27651385 )
2017
43
Antibiotic-Induced Rash in Patients With Infectious Mononucleosis. ( 27620494 )
2017
44
Exercise and the Athlete With Infectious Mononucleosis. ( 27347865 )
2017
45
Unexplained Dyspnea in a Young Adult with Epstein-Barr Virus Infectious Mononucleosis: Pulmonary Involvement or Co-Infection with Mycoplasma pneumoniae Pneumonia? ( 28869530 )
2017
46
Infectious mononucleosis lymphadenitis resembling Kikuchi's disease: Cytological, histopathological, and immunohistological findings. ( 28331133 )
2017
47
Immuno complex mediated acute glomerulonephritis in a patient with infectious mononucleosis. ( 28750880 )
2017
48
Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis. ( 28845899 )
2017
49
A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome. ( 28815901 )
2017
50
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia. ( 28600064 )
2017

Variations for Pfeiffer Syndrome

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

75 (show all 19)
# 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 rs121918488
16 FGFR2 p.Tyr375Cys VAR_017275 rs121913478
17 FGFR2 p.Glu565Gly VAR_017277 rs121918506
18 FGFR2 p.Lys641Arg VAR_017278 rs105751904
19 FGFR2 p.Gly663Glu VAR_017280

ClinVar genetic disease variations for Pfeiffer Syndrome:

6 (show top 50) (show all 345)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1021A> C (p.Thr341Pro) single nucleotide variant Pathogenic rs121918495 GRCh37 Chromosome 10, 123276896: 123276896
2 FGFR2 NM_000141.4(FGFR2): c.1021A> C (p.Thr341Pro) single nucleotide variant Pathogenic rs121918495 GRCh38 Chromosome 10, 121517382: 121517382
3 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh37 Chromosome 10, 123279566: 123279566
4 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh38 Chromosome 10, 121520052: 121520052
5 FGFR2 NM_000141.4(FGFR2): c.755_757delCGCinsTCT (p.Ser252_Pro253delinsPheSer) indel Pathogenic rs281865420 GRCh37 Chromosome 10, 123279675: 123279677
6 FGFR2 NM_000141.4(FGFR2): c.755_757delCGCinsTCT (p.Ser252_Pro253delinsPheSer) indel Pathogenic rs281865420 GRCh38 Chromosome 10, 121520161: 121520163
7 FGFR2 NM_000141.4(FGFR2): c.870G> C (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh37 Chromosome 10, 123279562: 123279562
8 FGFR2 NM_000141.4(FGFR2): c.870G> C (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh38 Chromosome 10, 121520048: 121520048
9 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 GRCh37 Chromosome 10, 123276865: 123276865
10 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 GRCh38 Chromosome 10, 121517351: 121517351
11 FGFR2 NM_000141.4(FGFR2): c.817_819delGAC (p.Asp273del) deletion Pathogenic rs121918503 GRCh37 Chromosome 10, 123279613: 123279615
12 FGFR2 NM_000141.4(FGFR2): c.817_819delGAC (p.Asp273del) deletion Pathogenic rs121918503 GRCh38 Chromosome 10, 121520099: 121520101
13 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh37 Chromosome 10, 123279633: 123279633
14 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh38 Chromosome 10, 121520119: 121520119
15 FGFR2 NM_000141.4(FGFR2): c.940-1G> A single nucleotide variant Pathogenic rs879253719 GRCh37 Chromosome 10, 123276978: 123276978
16 FGFR2 NM_000141.4(FGFR2): c.940-1G> A single nucleotide variant Pathogenic rs879253719 GRCh38 Chromosome 10, 121517464: 121517464
17 FGFR2 NM_000141.4(FGFR2): c.940-3_946delinsACC indel Pathogenic
18 FGFR2 NM_000141.4(FGFR2): c.870G> T (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh37 Chromosome 10, 123279562: 123279562
19 FGFR2 NM_000141.4(FGFR2): c.870G> T (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh38 Chromosome 10, 121520048: 121520048
20 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh37 Chromosome 10, 123353315: 123353315
21 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh38 Chromosome 10, 121593801: 121593801
22 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh37 Chromosome 10, 123325158: 123325158
23 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh38 Chromosome 10, 121565644: 121565644
24 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh37 Chromosome 10, 123279482: 123279482
25 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh38 Chromosome 10, 121519968: 121519968
26 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
27 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
28 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
29 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
30 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh37 Chromosome 10, 123243197: 123243197
31 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh38 Chromosome 10, 121483683: 121483683
32 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh38 Chromosome 10, 121488036: 121488036
33 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh37 Chromosome 10, 123247550: 123247550
34 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh37 Chromosome 10, 123298158: 123298158
35 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh38 Chromosome 10, 121538644: 121538644
36 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh37 Chromosome 10, 123353213: 123353213
37 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh38 Chromosome 10, 121593699: 121593699
38 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh37 Chromosome 10, 123237869: 123237873
39 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh38 Chromosome 10, 121478355: 121478359
40 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh37 Chromosome 10, 123237969: 123237969
41 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh38 Chromosome 10, 121478455: 121478455
42 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh37 Chromosome 10, 123238002: 123238002
43 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh38 Chromosome 10, 121478488: 121478488
44 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh37 Chromosome 10, 123238902: 123238902
45 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh38 Chromosome 10, 121479388: 121479388
46 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh37 Chromosome 10, 123239112: 123239112
47 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh38 Chromosome 10, 121479598: 121479598
48 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh37 Chromosome 10, 123239260: 123239260
49 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh38 Chromosome 10, 121479746: 121479746
50 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh38 Chromosome 10, 121496734: 121496734

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 49)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.03 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
2
Show member pathways
13.87 CD40LG COL1A1 COL3A1 FGF10 FGF7 FGF8
3
Show member pathways
13.46 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
4
Show member pathways
13.35 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
5
Show member pathways
13.31 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
6
Show member pathways
13.28 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
7
Show member pathways
13.1 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
8
Show member pathways
13.05 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
9
Show member pathways
13.04 COL1A1 COL3A1 FGF10 FGF7 FGF8 FGFR1
10
Show member pathways
13 COL1A1 FGF10 FGF7 FGF8 FGFR1 FGFR2
11
Show member pathways
12.87 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
12 12.84 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.78 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.76 FGF10 FGF7 FGF8 FGFR1 FGFR2
15
Show member pathways
12.75 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.74 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
17 12.71 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
18 12.64 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.57 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.43 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.41 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.31 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
23
Show member pathways
12.26 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
24
Show member pathways
12.23 COL1A1 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.18 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
26 12.14 FGFR1 FGFR2 FGFR3 SH2D1A
27
Show member pathways
12.13 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
28
Show member pathways
12.1 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
29
Show member pathways
12.09 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
30
Show member pathways
12 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
31 11.91 BGLAP FGFR1 RUNX2
32 11.83 FGFR1 FGFR2 FGFR3
33 11.81 FGF10 FGF8 FGFR1 FGFR3
34 11.81 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
35 11.73 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
36 11.7 ALPL FGFR1 FGFR3 RUNX2
37 11.68 FGFR1 FGFR2 FGFR3
38 11.62 CD40LG COL3A1 TNFRSF8
39 11.58 CD40LG CR2 TNFRSF8
40 11.53 BGLAP RUNX2 TWIST1
41 11.5 FGFR1 FGFR2 FGFR3
42 11.5 BGLAP FGFR1 FGFR2 RUNX2
43 11.46 BGLAP COL1A1 FOSL1 RUNX2
44 11.43 BGLAP COL1A1 RUNX2
45 11.4 FGF7 FGFR1 FGFR2 FGFR3
46 11.35 CD40LG COL1A1 COL3A1
47 10.88 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
48 10.85 BGLAP COL1A1
49 10.18 CD40LG COL1A1 COL3A1 FGF10 FGF7 FGF8

GO Terms for Pfeiffer Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.46 CR2 FGFR1 FGFR2 FGFR3
2 extracellular region GO:0005576 9.4 ALPL BGLAP CD40LG COL1A1 COL3A1 FGF10
3 extracellular matrix GO:0031012 9.35 ALPL COL1A1 COL3A1 FGF10 FGFR2

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

(show top 50) (show all 72)
# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.97 BGLAP FGF10 FGF8 FOSL1
2 positive regulation of MAPK cascade GO:0043410 9.97 FGF10 FGFR1 FGFR2 FGFR3 TLR9
3 platelet activation GO:0030168 9.92 CD40LG COL1A1 COL3A1
4 positive regulation of canonical Wnt signaling pathway GO:0090263 9.92 COL1A1 FGF10 FGFR2
5 wound healing GO:0042060 9.92 COL1A1 COL3A1 FGF10 FGFR2
6 lung development GO:0030324 9.92 FGF10 FGF8 FGFR1 FGFR2
7 ossification GO:0001503 9.91 BGLAP COL1A1 RUNX2 TWIST1
8 response to mechanical stimulus GO:0009612 9.91 BGLAP COL1A1 COL3A1 FOSL1
9 peptidyl-tyrosine phosphorylation GO:0018108 9.91 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
10 inner ear morphogenesis GO:0042472 9.9 FGF10 FGF8 FGFR1 FGFR2
11 positive regulation of epithelial cell proliferation GO:0050679 9.89 FGF10 FGF7 FGFR2 TWIST1
12 positive regulation of cell cycle GO:0045787 9.88 FGFR1 FGFR2 FOSL1
13 bone development GO:0060348 9.88 BGLAP FGF8 FGFR2 TWIST1
14 positive regulation of protein kinase B signaling GO:0051897 9.88 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
15 positive chemotaxis GO:0050918 9.87 FGF10 FGF7 FGF8
16 positive regulation of cell division GO:0051781 9.87 FGF7 FGF8 FGFR2
17 bone mineralization GO:0030282 9.86 BGLAP FGFR2 FGFR3
18 skeletal system morphogenesis GO:0048705 9.86 COL1A1 FGFR1 FGFR2 RUNX2
19 chondrocyte differentiation GO:0002062 9.85 FGFR1 FGFR3 RUNX2
20 embryonic cranial skeleton morphogenesis GO:0048701 9.85 FGFR2 RUNX2 TWIST1
21 phosphatidylinositol phosphorylation GO:0046854 9.85 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
22 digestive tract development GO:0048565 9.84 COL3A1 FGF10 FGFR2
23 odontogenesis GO:0042476 9.81 BGLAP FGF8 FGFR2 TWIST1
24 hair follicle morphogenesis GO:0031069 9.8 FGF10 FGF7 FGFR2
25 endochondral ossification GO:0001958 9.8 ALPL COL1A1 FGFR3 RUNX2
26 osteoblast differentiation GO:0001649 9.8 ALPL BGLAP COL1A1 RUNX2 SP7 TWIST1
27 organ induction GO:0001759 9.75 FGF10 FGF8 FGFR1
28 regulation of osteoblast differentiation GO:0045667 9.74 FGFR2 RUNX2
29 generation of neurons GO:0048699 9.74 FGF8 FGFR1
30 mesonephros development GO:0001823 9.74 FGF10 FGF8
31 organ growth GO:0035265 9.74 FGF10 FGFR2
32 positive regulation of keratinocyte migration GO:0051549 9.74 FGF10 FGF7
33 limb bud formation GO:0060174 9.74 FGF10 FGFR2
34 mesenchymal cell differentiation GO:0048762 9.73 FGFR1 FGFR2
35 positive regulation of keratinocyte proliferation GO:0010838 9.73 FGF10 FGF7
36 salivary gland morphogenesis GO:0007435 9.73 FGF10 FGFR1
37 outer ear morphogenesis GO:0042473 9.73 FGFR1 TWIST1
38 response to gravity GO:0009629 9.73 BGLAP FOSL1
39 fibroblast growth factor receptor signaling pathway GO:0008543 9.73 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
40 lung-associated mesenchyme development GO:0060484 9.72 FGFR1 FGFR2
41 bud elongation involved in lung branching GO:0060449 9.72 FGF10 FGFR2
42 positive regulation of phospholipase activity GO:0010518 9.72 FGFR1 FGFR2 FGFR3
43 endochondral bone growth GO:0003416 9.71 FGFR2 FGFR3
44 lacrimal gland development GO:0032808 9.71 FGF10 FGFR2
45 positive regulation of DNA-templated transcription, initiation GO:2000144 9.71 FOSL1 TWIST1
46 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.71 FGFR2 RUNX2
47 otic vesicle formation GO:0030916 9.71 FGF10 FGF8 FGFR2
48 epidermis morphogenesis GO:0048730 9.7 FGF10 FGFR2
49 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.7 FGF7 FGFR2
50 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.7 FGF8 RUNX2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.99 CR2 FGFR1 FGFR2 TKT TLR9 TWIST1
2 transmembrane signaling receptor activity GO:0004888 9.85 CR2 FGFR1 FGFR2 FGFR3 TLR9 TNFRSF8
3 heparin binding GO:0008201 9.78 FGF10 FGF7 FGFR1 FGFR2
4 protein tyrosine kinase activity GO:0004713 9.73 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.67 FGFR1 FGFR2 FGFR3
6 chemoattractant activity GO:0042056 9.63 FGF10 FGF7 FGF8
7 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.63 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
8 fibroblast growth factor receptor binding GO:0005104 9.61 FGF10 FGF7 FGF8
9 fibroblast growth factor binding GO:0017134 9.58 FGFR1 FGFR2 FGFR3
10 platelet-derived growth factor binding GO:0048407 9.52 COL1A1 COL3A1
11 fibroblast growth factor-activated receptor activity GO:0005007 9.5 FGFR1 FGFR2 FGFR3
12 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.43 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
13 1-phosphatidylinositol-3-kinase activity GO:0016303 9.17 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3

Sources for Pfeiffer Syndrome

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