PS
MCID: PFF001
MIFTS: 73

Pfeiffer Syndrome (PS)

Categories: Genetic diseases, Rare diseases, Infectious diseases, Eye diseases, Bone diseases, Fetal diseases, Skin diseases, Endocrine 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 achondroplasia, and has symptoms including fever and pruritus. An important gene associated with Pfeiffer Syndrome is FGFR1 (Fibroblast Growth Factor Receptor 1), 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, eye and testes, and related phenotypes are malar flattening and hypertelorism

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).

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  

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.

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.

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 201)
# Related Disease Score Top Affiliating Genes
1 crouzon syndrome 30.8 FGFR1 FGFR2 FGFR3
2 achondroplasia 30.6 FGFR1 FGFR2 FGFR3
3 saethre-chotzen syndrome 29.6 BGLAP FGFR1 FGFR2 FGFR3 RUNX2 TWIST1
4 craniosynostosis 29.1 FGF10 FGF8 FGFR1 FGFR2 FGFR3 RUNX2
5 lymphoma, non-hodgkin, familial 27.7 CD40LG CR2 SH2D1A TLR9 TNFRSF8
6 lymphoproliferative syndrome, x-linked, 1 12.0
7 winkelman bethge pfeiffer syndrome 11.9
8 proteus syndrome 11.6
9 chronic active epstein-barr virus infection 11.4
10 cytomegalovirus infection 11.4
11 cytomegalic inclusion disease 11.3
12 kleeblattschaedel 11.3
13 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.0
14 scott syndrome 11.0
15 post-transplant lymphoproliferative disease 11.0
16 salivary gland disease 11.0
17 neurological consequences of cytomegalovirus infection 11.0
18 hemifacial hyperplasia 11.0 FGFR2 FGFR3
19 polydactyly, preaxial ii 10.9
20 cowden syndrome 1 10.9
21 perlman syndrome 10.9
22 childhood apraxia of speech 10.9
23 ulna and fibula, hypoplasia of 10.8
24 pituitary hormone deficiency, combined, 3 10.8
25 osteoglophonic dysplasia 10.8 FGFR1 FGFR2 FGFR3
26 jackson-weiss syndrome 10.7 FGFR1 FGFR2 FGFR3
27 isolated plagiocephaly 10.7 FGFR3 TWIST1
28 hypochondroplasia 10.7 FGFR1 FGFR2 FGFR3
29 isolated brachycephaly 10.7 FGFR3 TWIST1
30 larsen-like syndrome 10.6 COL1A1 COL3A1
31 cleidocranial dysplasia 10.6 ALPL BGLAP RUNX2
32 osteogenesis imperfecta, type ii 10.6 ALPL COL1A1 FGFR3
33 ischemic bone disease 10.6 BGLAP RUNX2 SP7
34 deafness, autosomal recessive 51 10.5 FGF8 FGFR3
35 bone remodeling disease 10.5 BGLAP RUNX2 SP7
36 osteogenesis imperfecta, type i 10.5 BGLAP COL1A1 FGFR3
37 synovial chondromatosis 10.5 COL1A1 FGFR1 FGFR3 RUNX2
38 ehlers-danlos syndrome, hypermobility type 10.4 COL1A1 COL3A1
39 acanthoma 10.4 FGF10 FGFR2
40 hartsfield syndrome 10.4 FGF8 FGFR1
41 ankylosis 10.4 BGLAP FGFR2 RUNX2 SP7
42 spondyloepiphyseal dysplasia congenita 10.4 COL1A1 COL3A1 FGFR3 RUNX2
43 plagiocephaly 10.4 FGFR1 FGFR2 FGFR3 TWIST1
44 hypertelorism 10.4 COL1A1 FGFR2 TWIST1
45 lymphoma 10.4
46 osteochondrodysplasia 10.4 ALPL BGLAP FGFR3 SP7
47 brittle bone disorder 10.4 BGLAP COL1A1 COL3A1 FGFR3
48 synostosis 10.3 FGFR1 FGFR2 FGFR3 TWIST1
49 bone resorption disease 10.3 BGLAP COL1A1 RUNX2 SP7
50 gliosarcoma 10.3 FGFR1 FGFR3 TWIST1

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 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.44 ALPL COL1A1 CD40LG FGF7 CR2 FGF10
2 homeostasis/metabolism MP:0005376 10.43 COL3A1 ALPL COL1A1 CD40LG FGF7 CR2
3 cellular MP:0005384 10.41 COL3A1 ALPL COL1A1 CD40LG FGF10 FGF8
4 immune system MP:0005387 10.41 ALPL COL1A1 CD40LG COL3A1 FGF7 CR2
5 growth/size/body region MP:0005378 10.37 ALPL COL1A1 FGF8 COL3A1 FGF7 FGF10
6 mortality/aging MP:0010768 10.36 COL3A1 ALPL COL1A1 CD40LG CR2 FGF10
7 cardiovascular system MP:0005385 10.35 CD40LG ALPL COL1A1 FGF8 COL3A1 FGF10
8 digestive/alimentary MP:0005381 10.32 COL3A1 ALPL COL1A1 FGF10 FGF8 FGFR3
9 craniofacial MP:0005382 10.24 ALPL COL1A1 FGF10 FGF8 FGFR2 FGFR1
10 endocrine/exocrine gland MP:0005379 10.22 CD40LG ALPL COL1A1 FGF10 FGF8 FGFR2
11 embryo MP:0005380 10.18 ALPL COL1A1 FGF10 FGFR1 FGF8 FGFR2
12 limbs/digits/tail MP:0005371 10.18 ALPL COL1A1 FGF10 FGF8 FGFR3 FGFR2
13 integument MP:0010771 10.15 CD40LG COL1A1 FGF10 COL3A1 FGF7 FGFR2
14 nervous system MP:0003631 10.14 CD40LG ALPL COL1A1 FGF10 FGF7 FGF8
15 muscle MP:0005369 10.09 ALPL COL1A1 FGF8 COL3A1 FGF10 FGFR2
16 hearing/vestibular/ear MP:0005377 10.02 COL1A1 FGF10 FGFR1 FGF8 FGFR2 FGFR3
17 normal MP:0002873 10.02 COL1A1 FGF10 FGF8 FGFR2 FGFR1 FGFR3
18 renal/urinary system MP:0005367 10.02 COL1A1 CD40LG FGF7 CR2 FGF10 FGF8
19 reproductive system MP:0005389 9.96 CD40LG ALPL COL1A1 FGF10 FGF7 FGF8
20 respiratory system MP:0005388 9.81 ALPL COL1A1 COL3A1 FGF10 FGF8 FGFR2
21 skeleton MP:0005390 9.77 ALPL COL1A1 CD40LG FGF7 FGF10 FGF8
22 vision/eye MP:0005391 9.23 COL1A1 FGF10 FGF7 FGFR1 FGF8 FGFR2

Drugs & Therapeutics for Pfeiffer Syndrome

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

(show all 10)
# 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 2,Phase 1
5 Liver Extracts Phase 2,Phase 1
6 PONATINIB  Phase 2
7 Protein Kinase Inhibitors Phase 2
8 tyrosine Nutraceutical Phase 1, Phase 2
9 Antibodies Phase 1
10 Immunoglobulins Phase 1

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 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
2 Dovitinib for Gastric Cancer With FGFR2 Amplification Completed NCT01719549 Phase 2 Dovitinib
3 pazopanib_NCRCC,Ph2 STUDY Completed NCT01538238 Phase 2 pazopanib
4 ARQ 087 in Subjects With FGFR2 Gene Fusion Positive Inoperable or Advanced Intrahepatic Cholangiocarcinoma Recruiting NCT03230318 Phase 2 ARQ 087
5 A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma Recruiting NCT02150967 Phase 2 BGJ398
6 A Study of TAS-120 in Patients With Advanced Solid Tumors Recruiting NCT02052778 Phase 1, Phase 2 TAS-120
7 BGJ398 in Treating Patients With FGFR Positive Recurrent Head and Neck Cancer Recruiting NCT02706691 Phase 2 BGJ398
8 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
9 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
10 Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 Fusions Active, not recruiting NCT02265341 Phase 2 Ponatinib Hydrochloride
11 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
12 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
13 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, Eye, Testes, Spleen, Monocytes, Liver, Trachea

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 124)
# 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
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
4
Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review. ( 29782338 )
2018
5
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia. ( 28600064 )
2017
6
A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome. ( 28815901 )
2017
7
Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis. ( 28845899 )
2017
8
The ophthalmic sequelae of Pfeiffer syndrome and the long-term visual outcomes after craniofacial surgery. ( 27418250 )
2016
9
Ophthalmic considerations in patients with Pfeiffer syndrome. ( 29503887 )
2016
10
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
11
Cochlear Implantation in a Patient With Pfeiffer Syndrome and Temporal Bone Vascular Anomalies. ( 26825670 )
2016
12
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. ( 27762162 )
2016
13
Clinical Image - Radiographic manifestations in Pfeiffer syndrome. ( 25892094 )
2015
14
A Delayed Finding of a Tracheal Cartilaginous Sleeve in a Patient with Pfeiffer Syndrome Type 2 and a Complex Airway History. ( 26230305 )
2015
15
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. ( 26096994 )
2015
16
Describing Crouzon and Pfeiffer syndrome based on principal component analysis. ( 25792443 )
2015
17
Premature Closure of the Spheno-occipital Synchondrosis in Pfeiffer Syndrome: A Link to Midface Hypoplasia. ( 24406578 )
2014
18
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. ( 25251565 )
2014
19
Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families. ( 25129254 )
2014
20
Upper extremity anomalies in Pfeiffer syndrome and mutational correlations. ( 24776567 )
2014
21
Pfeiffer syndrome: the importance of prenatal diagnosis. ( 25183684 )
2014
22
Pfeiffer syndrome. ( 24891917 )
2014
23
FGFR mutation in Pfeiffer syndrome. ( 23851850 )
2013
24
FGFR1 and FGFR2 mutations in Pfeiffer syndrome. ( 23348274 )
2013
25
Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome. ( 24036790 )
2013
26
Pfeiffer syndrome: analysis of a clinical series and development of a classification system. ( 23348287 )
2013
27
Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks' gestation. ( 23550868 )
2013
28
Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis. ( 24411056 )
2013
29
Pfeiffer Syndrome Type 3, a rare and unusual Craniosynostosis: Case reports from Korle Bu Teaching Hospital, Accra,Ghana. ( 24122692 )
2013
30
The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself. ( 23532954 )
2013
31
Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan. ( 22965899 )
2012
32
Pfeiffer syndrome type II discovered perinatally: Report of an observation and review of the literature. ( 22921691 )
2012
33
Biological effect of resorbable plates on normal osteoblasts and osteoblasts derived from Pfeiffer syndrome. ( 21558934 )
2011
34
Unique airway finding in a case of Pfeiffer syndrome and its management. ( 21897525 )
2011
35
Intubation using a "bonfils fiberscope" in a patient with pfeiffer syndrome. ( 23208638 )
2011
36
Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome: an overview of physical, neurological, and oral characteristics. ( 20129888 )
2010
37
Audiologic findings in Pfeiffer syndrome. ( 20856029 )
2010
38
A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings. ( 20809772 )
2010
39
A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene. ( 21189955 )
2010
40
Intestinal malrotation in a patient with Pfeiffer syndrome type 2. ( 20509766 )
2010
41
Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis. ( 20186072 )
2010
42
Pfeiffer syndrome: a treatment evaluation. ( 19407629 )
2009
43
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. ( 19066959 )
2009
44
Pyrexia after transcranial surgery for Pfeiffer syndrome. ( 19242364 )
2009
45
Cleft palate in Pfeiffer syndrome. ( 19816260 )
2009
46
Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement. ( 19390453 )
2009
47
A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage. ( 18049087 )
2008
48
Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of treatment, and risk factors. ( 18216676 )
2008
49
A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia. ( 18671283 )
2008
50
Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation. ( 18618990 )
2008

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 rs1057519047Pfeiffer
19 FGFR2 p.Gly663Glu VAR_017280

ClinVar genetic disease variations for Pfeiffer Syndrome:

6
(show top 50) (show all 333)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs121918487 GRCh37 Chromosome 10, 123276892: 123276892
2 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs121918487 GRCh38 Chromosome 10, 121517378: 121517378
3 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
4 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh38 Chromosome 10, 121517379: 121517379
5 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
6 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh38 Chromosome 10, 121517379: 121517379
7 FGFR2 NM_000141.4(FGFR2): c.1021A> C (p.Thr341Pro) single nucleotide variant Pathogenic rs121918495 GRCh37 Chromosome 10, 123276896: 123276896
8 FGFR2 NM_000141.4(FGFR2): c.1021A> C (p.Thr341Pro) single nucleotide variant Pathogenic rs121918495 GRCh38 Chromosome 10, 121517382: 121517382
9 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh37 Chromosome 10, 123279566: 123279566
10 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh38 Chromosome 10, 121520052: 121520052
11 FGFR2 NM_000141.4(FGFR2): c.755_757delCGCinsTCT (p.Ser252_Pro253delinsPheSer) indel Pathogenic rs281865420 GRCh37 Chromosome 10, 123279675: 123279677
12 FGFR2 NM_000141.4(FGFR2): c.755_757delCGCinsTCT (p.Ser252_Pro253delinsPheSer) indel Pathogenic rs281865420 GRCh38 Chromosome 10, 121520161: 121520163
13 FGFR2 NM_000141.4(FGFR2): c.870G> C (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh37 Chromosome 10, 123279562: 123279562
14 FGFR2 NM_000141.4(FGFR2): c.870G> C (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh38 Chromosome 10, 121520048: 121520048
15 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 GRCh37 Chromosome 10, 123276865: 123276865
16 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 GRCh38 Chromosome 10, 121517351: 121517351
17 FGFR2 NM_000141.4(FGFR2): c.817_819delGAC (p.Asp273del) deletion Pathogenic rs121918503 GRCh37 Chromosome 10, 123279613: 123279615
18 FGFR2 NM_000141.4(FGFR2): c.817_819delGAC (p.Asp273del) deletion Pathogenic rs121918503 GRCh38 Chromosome 10, 121520099: 121520101
19 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh37 Chromosome 10, 123279633: 123279633
20 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh38 Chromosome 10, 121520119: 121520119
21 FGFR2 NM_000141.4(FGFR2): c.940-1G> A single nucleotide variant Pathogenic rs879253719 GRCh37 Chromosome 10, 123276978: 123276978
22 FGFR2 NM_000141.4(FGFR2): c.940-1G> A single nucleotide variant Pathogenic rs879253719 GRCh38 Chromosome 10, 121517464: 121517464
23 FGFR2 NM_000141.4(FGFR2): c.940-3_946delinsACC indel Pathogenic
24 FGFR2 NM_000141.4(FGFR2): c.870G> T (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh37 Chromosome 10, 123279562: 123279562
25 FGFR2 NM_000141.4(FGFR2): c.870G> T (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh38 Chromosome 10, 121520048: 121520048
26 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Likely pathogenic rs121918506 GRCh37 Chromosome 10, 123256215: 123256215
27 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Likely pathogenic rs121918506 GRCh38 Chromosome 10, 121496701: 121496701
28 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 GRCh38 Chromosome 10, 121517316: 121517316
29 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 GRCh37 Chromosome 10, 123276830: 123276830
30 FGFR2 NM_000141.4(FGFR2): c.962A> C (p.Asp321Ala) single nucleotide variant Pathogenic rs121918510 GRCh37 Chromosome 10, 123276955: 123276955
31 FGFR2 NM_000141.4(FGFR2): c.962A> C (p.Asp321Ala) single nucleotide variant Pathogenic rs121918510 GRCh38 Chromosome 10, 121517441: 121517441
32 FGFR1 NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg) single nucleotide variant Pathogenic rs121909627 GRCh37 Chromosome 8, 38282208: 38282208
33 FGFR1 NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg) single nucleotide variant Pathogenic rs121909627 GRCh38 Chromosome 8, 38424690: 38424690
34 FGFR1 NM_023110.2(FGFR1): c.2187-6C> T single nucleotide variant Benign/Likely benign rs4647904 GRCh37 Chromosome 8, 38271547: 38271547
35 FGFR1 NM_023110.2(FGFR1): c.2187-6C> T single nucleotide variant Benign/Likely benign rs4647904 GRCh38 Chromosome 8, 38414029: 38414029
36 FGFR1 NM_023110.2(FGFR1): c.2314C> T (p.Pro772Ser) single nucleotide variant Benign/Likely benign rs56234888 GRCh37 Chromosome 8, 38271301: 38271301
37 FGFR1 NM_023110.2(FGFR1): c.2314C> T (p.Pro772Ser) single nucleotide variant Benign/Likely benign rs56234888 GRCh38 Chromosome 8, 38413783: 38413783
38 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
39 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
40 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
41 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
42 FGFR1 NM_023110.2(FGFR1): c.320C> T (p.Ser107Leu) single nucleotide variant Benign/Likely benign rs140382957 GRCh37 Chromosome 8, 38287238: 38287238
43 FGFR1 NM_023110.2(FGFR1): c.320C> T (p.Ser107Leu) single nucleotide variant Benign/Likely benign rs140382957 GRCh38 Chromosome 8, 38429720: 38429720
44 FGFR1 NM_023110.2(FGFR1): c.345C> T (p.Ser115=) single nucleotide variant Benign/Likely benign rs2915665 GRCh37 Chromosome 8, 38287213: 38287213
45 FGFR1 NM_023110.2(FGFR1): c.345C> T (p.Ser115=) single nucleotide variant Benign/Likely benign rs2915665 GRCh38 Chromosome 8, 38429695: 38429695
46 FGFR2 NM_000141.4(FGFR2): c.864_881del18 (p.Ile288_Val294delinsMet) deletion Pathogenic rs886037837 GRCh37 Chromosome 10, 123279551: 123279568
47 FGFR2 NM_000141.4(FGFR2): c.864_881del18 (p.Ile288_Val294delinsMet) deletion Pathogenic rs886037837 GRCh38 Chromosome 10, 121520037: 121520054
48 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh37 Chromosome 10, 123243197: 123243197
49 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh38 Chromosome 10, 121483683: 121483683
50 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh38 Chromosome 10, 121488036: 121488036

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 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.02 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
2
Show member pathways
13.85 CD40LG COL1A1 COL3A1 FGF10 FGF7 FGF8
3
Show member pathways
13.44 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
4
Show member pathways
13.32 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
5
Show member pathways
13.28 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
6
Show member pathways
13.21 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
7
Show member pathways
13.09 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
8
Show member pathways
13.03 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
9
Show member pathways
13.02 COL1A1 COL3A1 FGF10 FGF7 FGF8 FGFR1
10
Show member pathways
12.96 COL1A1 FGF10 FGF7 FGF8 FGFR1 FGFR2
11
Show member pathways
12.85 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
12 12.83 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.76 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.74 FGF10 FGF7 FGF8 FGFR1 FGFR2
15
Show member pathways
12.72 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.72 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
17 12.67 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
18 12.6 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.53 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.4 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.26 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.22 COL1A1 FGFR1 FGFR2 FGFR3
23 12.12 FGFR1 FGFR2 FGFR3 SH2D1A
24
Show member pathways
12.07 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.04 FGFR1 FGFR2 FGFR3
26
Show member pathways
12.02 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
27 11.9 BGLAP FGFR1 RUNX2
28
Show member pathways
11.9 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
29
Show member pathways
11.84 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
30
Show member pathways
11.83 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
31 11.81 FGFR1 FGFR2 FGFR3
32 11.78 FGF10 FGF8 FGFR1 FGFR3
33 11.73 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
34 11.66 FGFR1 FGFR2 FGFR3
35 11.66 ALPL FGFR1 FGFR3 RUNX2
36 11.61 CD40LG COL3A1 TNFRSF8
37 11.56 CD40LG CR2 TNFRSF8
38 11.51 BGLAP RUNX2 TWIST1
39 11.48 FGFR1 FGFR2 FGFR3
40 11.47 BGLAP FGFR1 FGFR2 RUNX2
41 11.43 BGLAP COL1A1 FOSL1 RUNX2
42 11.41 BGLAP COL1A1 RUNX2
43 11.36 FGF7 FGFR1 FGFR2 FGFR3
44 11.32 CD40LG COL1A1 COL3A1
45 10.84 BGLAP COL1A1

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 extracellular space GO:0005615 9.76 ALPL BGLAP CD40LG COL1A1 COL3A1 FGF10
2 extracellular matrix GO:0031012 9.56 COL1A1 COL3A1 FGF10 FGFR2
3 extracellular region GO:0005576 9.4 ALPL BGLAP CD40LG COL1A1 COL3A1 FGF10
4 receptor complex GO:0043235 9.26 CR2 FGFR1 FGFR2 FGFR3

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 lung development GO:0030324 9.92 FGF10 FGF8 FGFR1 FGFR2
4 wound healing GO:0042060 9.92 COL1A1 COL3A1 FGF10 FGFR2
5 positive regulation of kinase activity GO:0033674 9.91 FGFR1 FGFR2 FGFR3
6 ossification GO:0001503 9.91 BGLAP COL1A1 RUNX2 TWIST1
7 response to mechanical stimulus GO:0009612 9.91 BGLAP COL1A1 COL3A1 FOSL1
8 peptidyl-tyrosine phosphorylation GO:0018108 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 positive regulation of protein kinase B signaling GO:0051897 9.88 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
13 positive regulation of cell division GO:0051781 9.87 FGF7 FGF8 FGFR2
14 digestive tract development GO:0048565 9.87 COL3A1 FGF10 FGFR2
15 positive regulation of cell cycle GO:0045787 9.86 FGFR1 FGFR2 FOSL1
16 chondrocyte differentiation GO:0002062 9.86 FGFR1 FGFR3 RUNX2
17 positive chemotaxis GO:0050918 9.85 FGF10 FGF7 FGF8
18 bone mineralization GO:0030282 9.85 BGLAP FGFR2 FGFR3
19 osteoblast differentiation GO:0001649 9.85 ALPL BGLAP COL1A1 RUNX2 SP7 TWIST1
20 embryonic cranial skeleton morphogenesis GO:0048701 9.84 FGFR2 RUNX2 TWIST1
21 skeletal system morphogenesis GO:0048705 9.84 COL1A1 FGFR1 FGFR2 RUNX2
22 hair follicle morphogenesis GO:0031069 9.83 FGF10 FGF7 FGFR2
23 odontogenesis GO:0042476 9.81 BGLAP FGF8 FGFR2 TWIST1
24 endochondral ossification GO:0001958 9.8 ALPL COL1A1 FGFR3 RUNX2
25 phosphatidylinositol phosphorylation GO:0046854 9.8 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
26 generation of neurons GO:0048699 9.75 FGF8 FGFR1
27 regulation of osteoblast differentiation GO:0045667 9.74 FGFR2 RUNX2
28 mesonephros development GO:0001823 9.74 FGF10 FGF8
29 organ growth GO:0035265 9.74 FGF10 FGFR2
30 limb bud formation GO:0060174 9.74 FGF10 FGFR2
31 positive regulation of keratinocyte proliferation GO:0010838 9.74 FGF10 FGF7
32 mesenchymal cell differentiation GO:0048762 9.74 FGFR1 FGFR2
33 organ induction GO:0001759 9.74 FGF10 FGF8 FGFR1
34 salivary gland morphogenesis GO:0007435 9.73 FGF10 FGFR1
35 outer ear morphogenesis GO:0042473 9.73 FGFR1 TWIST1
36 response to gravity GO:0009629 9.73 BGLAP FOSL1
37 lung-associated mesenchyme development GO:0060484 9.73 FGFR1 FGFR2
38 fibroblast growth factor receptor signaling pathway GO:0008543 9.73 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
39 positive regulation of keratinocyte migration GO:0051549 9.72 FGF10 FGF7
40 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.72 FGFR2 RUNX2
41 positive regulation of DNA-templated transcription, initiation GO:2000144 9.72 FOSL1 TWIST1
42 positive regulation of phospholipase activity GO:0010518 9.72 FGFR1 FGFR2 FGFR3
43 endochondral bone growth GO:0003416 9.71 FGFR2 FGFR3
44 bud elongation involved in lung branching GO:0060449 9.71 FGF10 FGFR2
45 epidermis morphogenesis GO:0048730 9.71 FGF10 FGFR2
46 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.71 FGF8 RUNX2
47 lacrimal gland development GO:0032808 9.7 FGF10 FGFR2
48 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.7 FGF10 FGFR2
49 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.7 FGF7 FGFR2
50 otic vesicle formation GO:0030916 9.7 FGF10 FGF8 FGFR2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.85 CR2 FGFR1 FGFR2 FGFR3 TLR9 TNFRSF8
2 heparin binding GO:0008201 9.78 FGF10 FGF7 FGFR1 FGFR2
3 protein tyrosine kinase activity GO:0004713 9.73 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
4 MAP kinase kinase kinase activity GO:0004709 9.71 FGFR1 FGFR2 FGFR3
5 mitogen-activated protein kinase kinase binding GO:0031434 9.69 FGFR1 FGFR2 FGFR3
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.67 FGFR1 FGFR2 FGFR3
7 chemoattractant activity GO:0042056 9.63 FGF10 FGF7 FGF8
8 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.63 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
9 fibroblast growth factor receptor binding GO:0005104 9.61 FGF10 FGF7 FGF8
10 fibroblast growth factor binding GO:0017134 9.58 FGFR1 FGFR2 FGFR3
11 platelet-derived growth factor binding GO:0048407 9.52 COL1A1 COL3A1
12 fibroblast growth factor-activated receptor activity GO:0005007 9.5 FGFR1 FGFR2 FGFR3
13 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.43 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
14 1-phosphatidylinositol-3-kinase activity GO:0016303 9.17 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
15 protein binding GO:0005515 10.48 ALPL CD40LG COL1A1 COL3A1 CR2 FGF10

Sources for Pfeiffer Syndrome

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