MCID: PFF001
MIFTS: 74

Pfeiffer Syndrome

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

Aliases & Classifications for Pfeiffer Syndrome

MalaCards integrated aliases for Pfeiffer Syndrome:

Name: Pfeiffer Syndrome 53 38 12 72 72 49 24 55 71 36 28 13 51 14 69
Infectious Mononucleosis 38 12 51 40 3 41 14 69
Acs5 53 49 24 55 71
Craniofacial-Skeletal-Dermatologic Dysplasia 53 49 24 13
Acrocephalosyndactyly Type 5 49 55 71
Noack Syndrome 53 49 24
Acs V 53 24 71
Pfeiffer Type Acrocephalosyndactyly 49 69
Acrocephalosyndactyly, Type V 53 24
Craniofacial-Skeletal-Dermatologic Syndrome 49
Acrocephalosyndactyly, Type V; Acs5 53
Gammaherpesviral Mononucleosis 12
Acrocephalosyndactylia Type V 12
Acrocephalosyndactyly, Type 5 49
Classic Pfeiffer Syndrome 55
Pfeiffer Syndrome Type 3 55
Pfeiffer Syndrome Type 2 55
Pfeiffer Syndrome Type 1 55
Pfeiffer's Disease 12
Filatov's Disease 12
Monocytic Angina 12
Glandular Fever 12
Mononucleosis 12
Acsv 49
Ps 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
pfeiffer syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pfeiffer Syndrome

OMIM : 53 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 seizures, respiratory distress and malar flattening. 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 Docetaxel and Antimitotic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and testes, and related phenotypes are hematopoietic system and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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 : 49 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 : 40 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…

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

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.

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 210)
# Related Disease Score Top Affiliating Genes
1 crouzon syndrome 30.5 FGFR1 FGFR2 FGFR3
2 achondroplasia 30.2 FGFR1 FGFR2 FGFR3
3 ankylosis 30.1 FGFR2 RUNX2 SP7
4 saethre-chotzen syndrome 29.9 FGFR1 FGFR2 FGFR3 RUNX2 TWIST1
5 agammaglobulinemia 29.9 CD40LG CR2 SH2D1A
6 craniosynostosis 29.5 FGF10 FGF8 FGFR1 FGFR2 FGFR3 RUNX2
7 lymphoma, non-hodgkin, familial 28.4 CD40LG CR2 SH2D1A TLR9 TNFRSF8
8 lymphoproliferative syndrome, x-linked, 1 12.0
9 winkelman bethge pfeiffer syndrome 11.9
10 chronic active epstein-barr virus infection 11.5
11 cytomegalovirus infection 11.5
12 cytomegalic inclusion disease 11.3
13 kleeblattschaedel 11.3
14 scott syndrome 11.1
15 proteus syndrome 11.1
16 post-transplant lymphoproliferative disease 11.0
17 salivary gland disease 11.0
18 neurological consequences of cytomegalovirus infection 11.0
19 perlman syndrome 10.9
20 polydactyly, preaxial ii 10.9
21 ulna and fibula, hypoplasia of 10.8
22 pituitary hormone deficiency, combined, 3 10.8
23 osteoglophonic dysplasia 10.5 FGFR1 FGFR2 FGFR3
24 isolated brachycephaly 10.5 FGFR3 TWIST1
25 jackson-weiss syndrome 10.5 FGFR1 FGFR2 FGFR3
26 isolated plagiocephaly 10.5 FGFR3 TWIST1
27 hypochondroplasia 10.4 FGFR1 FGFR2 FGFR3
28 larsen-like syndrome 10.4 COL1A1 COL3A1
29 lymphoma 10.4
30 luteoma 10.3 FGFR2 FGFR3
31 deafness, autosomal recessive 51 10.3 FGF8 FGFR3
32 osteogenesis imperfecta, type ii 10.3 ALPL COL1A1 FGFR3
33 bone resorption disease 10.3 COL1A1 RUNX2 SP7
34 acanthoma 10.3 FGF10 FGFR2
35 osteochondrodysplasia 10.3 ALPL FGFR3 SP7
36 thanatophoric dysplasia, type i 10.3 FGF8 FGFR2 FGFR3
37 multiple sclerosis 10.3
38 hartsfield syndrome 10.3 FGF8 FGFR1
39 brittle bone disorder 10.3 COL1A1 COL3A1 FGFR3
40 synovial chondromatosis 10.3 COL1A1 FGFR1 FGFR3 RUNX2
41 hepatitis 10.3
42 selective immunoglobulin deficiency disease 10.2 CD40LG SH2D1A
43 plagiocephaly 10.2 FGFR1 FGFR2 FGFR3 TWIST1
44 gliosarcoma 10.2 FGFR1 FGFR3 TWIST1
45 spondyloepiphyseal dysplasia congenita 10.2 COL1A1 COL3A1 FGFR3 RUNX2
46 synostosis 10.2 FGFR1 FGFR2 FGFR3 TWIST1
47 tonsillitis 10.2
48 splenic infarction 10.2
49 lung squamous cell carcinoma 10.1 FGFR1 FGFR2 FGFR3
50 leukemia 10.1

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:

53
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:

55 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001250
2 respiratory distress 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002098
3 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
4 hypertelorism 55 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000316
5 low-set ears 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000369
6 short neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000470
7 finger syndactyly 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0006101
8 high palate 55 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000218
9 hydrocephalus 55 31 frequent (33%) Frequent (79-30%) HP:0000238
10 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
11 intellectual disability 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001249
12 aqueductal stenosis 55 31 occasional (7.5%) Very frequent (99-80%),Frequent (79-30%),Occasional (29-5%) HP:0002410
13 hyperlordosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0003307
14 mandibular prognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000303
15 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000365
16 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
17 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
18 increased intracranial pressure 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002516
19 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0005280
20 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
21 short nose 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0003196
22 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
23 broad hallux phalanx 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0010059
24 broad thumb 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0011304
25 laryngomalacia 55 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001601
26 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
27 cleft palate 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000175
28 cloverleaf skull 55 31 occasional (7.5%) Very frequent (99-80%) HP:0002676
29 short palm 55 31 frequent (33%) Frequent (79-30%) HP:0004279
30 limitation of joint mobility 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001376
31 short foot 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001773
32 flat face 55 31 occasional (7.5%) Occasional (29-5%) HP:0012368
33 horseshoe kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000085
34 short philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000322
35 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
36 small hand 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0200055
37 arnold-chiari malformation 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002308
38 visual loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0000572
39 open mouth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000194
40 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
41 anal atresia 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002023
42 vesicoureteral reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0000076
43 turricephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000262
44 choanal atresia 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000453
45 intestinal malrotation 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002566
46 amblyopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000646
47 high forehead 55 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000348
48 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0011800
49 proptosis 55 31 frequent (33%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0000520
50 short hallux 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0010109

UMLS symptoms related to Pfeiffer Syndrome:


pruritus, fever

MGI Mouse Phenotypes related to Pfeiffer Syndrome:

43 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.44 CD40LG FGFR1 ALPL COL1A1 FGFR3 FGFR2
2 homeostasis/metabolism MP:0005376 10.43 FGFR2 CD40LG COL3A1 FGFR1 ALPL COL1A1
3 cellular MP:0005384 10.41 CD40LG FGFR2 FGFR1 ALPL COL1A1 FGFR3
4 immune system MP:0005387 10.41 CD40LG FGFR1 COL3A1 ALPL COL1A1 FGFR3
5 growth/size/body region MP:0005378 10.4 FGFR2 FGFR1 ALPL COL1A1 FGFR3 FGF10
6 mortality/aging MP:0010768 10.39 CD40LG FGFR1 COL3A1 ALPL COL1A1 FGFR3
7 cardiovascular system MP:0005385 10.38 FGFR2 CD40LG COL3A1 FGFR1 ALPL COL1A1
8 digestive/alimentary MP:0005381 10.32 FGFR2 COL3A1 FGFR1 ALPL COL1A1 FGFR3
9 endocrine/exocrine gland MP:0005379 10.27 FGF8 COL1A1 CD40LG FGFR2 FGFR1 ALPL
10 craniofacial MP:0005382 10.24 FGFR2 FGFR1 ALPL COL1A1 FGF10 FGF8
11 embryo MP:0005380 10.18 ALPL FGF8 COL1A1 FGFR2 FGFR1 FGF10
12 limbs/digits/tail MP:0005371 10.18 FGFR2 FGFR1 ALPL COL1A1 FGF10 FGF8
13 nervous system MP:0003631 10.18 FGF8 COL1A1 CD40LG FGFR2 FGFR1 ALPL
14 integument MP:0010771 10.15 COL1A1 CD40LG FGFR2 FGFR1 RUNX2 FGFR3
15 muscle MP:0005369 10.09 FGFR2 FGFR1 ALPL FGF8 COL1A1 RUNX2
16 renal/urinary system MP:0005367 10.06 FGFR2 CD40LG FGFR1 COL1A1 FGFR3 FGF8
17 hearing/vestibular/ear MP:0005377 10.02 FGF8 COL1A1 FGFR2 FGFR1 FGFR3 FGF10
18 normal MP:0002873 10.02 FGF8 COL1A1 FGFR2 FGFR1 FGFR3 FGF10
19 reproductive system MP:0005389 10 FGFR2 CD40LG FGFR1 ALPL COL1A1 FGFR3
20 respiratory system MP:0005388 9.81 FGFR2 ALPL COL1A1 RUNX2 FGFR3 FGF10
21 skeleton MP:0005390 9.77 FGFR2 CD40LG FGFR1 ALPL COL1A1 FGFR3
22 vision/eye MP:0005391 9.28 COL1A1 FGFR2 FGFR1 FGF8 RUNX2 FGFR3

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 May 1996, Investigational Phase 2, Phase 3 114977-28-5 148124 9877265
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 11)

# 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 ARQ 087 in Subjects With FGFR2 Gene Fusion Positive Inoperable or Advanced Intrahepatic Cholangiocarcinoma Recruiting NCT03230318 Phase 2 ARQ 087
4 A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma Recruiting NCT02150967 Phase 2 BGJ398
5 Pediatric MATCH: Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations Recruiting NCT03210714 Phase 2 Erdafitinib
6 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
7 Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 Fusions Active, not recruiting NCT02265341 Phase 2 Ponatinib Hydrochloride
8 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 pan FGFR Kinase Inhibitor BGJ398
9 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
10 Observing the Relationship of Fibroblast Growth Factor and Fibroblast in Thyroid Eye Disease Recruiting NCT03324022
11 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Recruiting NCT01660308

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 28 FGFR1 FGFR2

Anatomical Context for Pfeiffer Syndrome

MalaCards organs/tissues related to Pfeiffer Syndrome:

38
Bone, Eye, Testes, Spleen, Monocytes, Liver, 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 120)
# 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
Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis. ( 28845899 )
2017
4
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia. ( 28600064 )
2017
5
A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome. ( 28815901 )
2017
6
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. ( 27762162 )
2016
7
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
8
Cochlear Implantation in a Patient With Pfeiffer Syndrome and Temporal Bone Vascular Anomalies. ( 26825670 )
2016
9
The ophthalmic sequelae of Pfeiffer syndrome and the long-term visual outcomes after craniofacial surgery. ( 27418250 )
2016
10
Clinical Image - Radiographic manifestations in Pfeiffer syndrome. ( 25892094 )
2015
11
A Delayed Finding of a Tracheal Cartilaginous Sleeve in a Patient with Pfeiffer Syndrome Type 2 and a Complex Airway History. ( 26230305 )
2015
12
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. ( 26096994 )
2015
13
Describing Crouzon and Pfeiffer syndrome based on principal component analysis. ( 25792443 )
2015
14
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. ( 25251565 )
2014
15
Pfeiffer syndrome: the importance of prenatal diagnosis. ( 25183684 )
2014
16
Premature Closure of the Spheno-occipital Synchondrosis in Pfeiffer Syndrome: A Link to Midface Hypoplasia. ( 24406578 )
2014
17
Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families. ( 25129254 )
2014
18
Upper extremity anomalies in Pfeiffer syndrome and mutational correlations. ( 24776567 )
2014
19
Pfeiffer syndrome. ( 24891917 )
2014
20
Pfeiffer syndrome: analysis of a clinical series and development of a classification system. ( 23348287 )
2013
21
Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks' gestation. ( 23550868 )
2013
22
Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis. ( 24411056 )
2013
23
Pfeiffer Syndrome Type 3, a rare and unusual Craniosynostosis: Case reports from Korle Bu Teaching Hospital, Accra,Ghana. ( 24122692 )
2013
24
The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself. ( 23532954 )
2013
25
FGFR1 and FGFR2 mutations in Pfeiffer syndrome. ( 23348274 )
2013
26
Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome. ( 24036790 )
2013
27
FGFR mutation in Pfeiffer syndrome. ( 23851850 )
2013
28
Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan. ( 22965899 )
2012
29
Pfeiffer syndrome type II discovered perinatally: Report of an observation and review of the literature. ( 22921691 )
2012
30
Biological effect of resorbable plates on normal osteoblasts and osteoblasts derived from Pfeiffer syndrome. ( 21558934 )
2011
31
Unique airway finding in a case of Pfeiffer syndrome and its management. ( 21897525 )
2011
32
Intubation using a "bonfils fiberscope" in a patient with pfeiffer syndrome. ( 23208638 )
2011
33
Intestinal malrotation in a patient with Pfeiffer syndrome type 2. ( 20509766 )
2010
34
Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis. ( 20186072 )
2010
35
A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings. ( 20809772 )
2010
36
Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome: an overview of physical, neurological, and oral characteristics. ( 20129888 )
2010
37
A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene. ( 21189955 )
2010
38
Audiologic findings in Pfeiffer syndrome. ( 20856029 )
2010
39
Pfeiffer syndrome: a treatment evaluation. ( 19407629 )
2009
40
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. ( 19066959 )
2009
41
Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement. ( 19390453 )
2009
42
Cleft palate in Pfeiffer syndrome. ( 19816260 )
2009
43
Pyrexia after transcranial surgery for Pfeiffer syndrome. ( 19242364 )
2009
44
Monoblock craniofacial internal distraction in a child with Pfeiffer syndrome: a case report. ( 18437024 )
2008
45
A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia. ( 18671283 )
2008
46
Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation. ( 18618990 )
2008
47
Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation. ( 18541976 )
2008
48
Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of treatment, and risk factors. ( 18216676 )
2008
49
A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage. ( 18049087 )
2008
50
High-grade vesicoureteral reflux in Pfeiffer syndrome. ( 18825630 )
2008

Variations for Pfeiffer Syndrome

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

71 (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 all 24)
# 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.755_757delCGCinsTCT (p.Ser252_Pro253delinsPheSer) indel Pathogenic rs281865420 GRCh37 Chromosome 10, 123279675: 123279677
7 FGFR2 NM_000141.4(FGFR2): c.870G> C (p.Trp290Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918499 GRCh37 Chromosome 10, 123279562: 123279562
8 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 GRCh37 Chromosome 10, 123276865: 123276865
9 FGFR2 NM_000141.4(FGFR2): c.817_819delGAC (p.Asp273del) deletion Pathogenic rs121918503 GRCh37 Chromosome 10, 123279613: 123279615
10 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh37 Chromosome 10, 123279633: 123279633
11 FGFR2 NM_000141.4(FGFR2): c.940-1G> A single nucleotide variant Pathogenic rs879253719 GRCh37 Chromosome 10, 123276978: 123276978
12 FGFR2 NM_000141.4(FGFR2): c.940-3_946delinsACC indel Pathogenic
13 FGFR2 NM_000141.4(FGFR2): c.870G> T (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh37 Chromosome 10, 123279562: 123279562
14 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121918506 GRCh37 Chromosome 10, 123256215: 123256215
15 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 GRCh38 Chromosome 10, 121517316: 121517316
16 FGFR2 NM_000141.4(FGFR2): c.962A> C (p.Asp321Ala) single nucleotide variant Pathogenic rs121918510 GRCh37 Chromosome 10, 123276955: 123276955
17 FGFR1 NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg) single nucleotide variant Pathogenic rs121909627 GRCh37 Chromosome 8, 38282208: 38282208
18 FGFR2 NM_000141.4(FGFR2): c.864_881del18 (p.Ile288_Val294delinsMet) deletion Pathogenic rs886037837 GRCh37 Chromosome 10, 123279551: 123279568
19 FGFR2 NM_000141.4(FGFR2): c.833G> T (p.Cys278Phe) single nucleotide variant Pathogenic rs776587763 GRCh37 Chromosome 10, 123279599: 123279599
20 FGFR2 NM_000141.4(FGFR2): c.1922A> G (p.Lys641Arg) single nucleotide variant Likely pathogenic rs1057519047 GRCh37 Chromosome 10, 123247569: 123247569
21 FGFR2 NM_000141.4(FGFR2): c.1694A> G (p.Glu565Gly) single nucleotide variant Likely pathogenic rs121918506 GRCh37 Chromosome 10, 123256215: 123256215
22 FGFR2 NM_000141.4(FGFR2): c.1024T> G (p.Cys342Gly) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
23 FGFR2 NM_000141.4(FGFR2): c.940-2A> G single nucleotide variant Pathogenic rs1057519041 GRCh38 Chromosome 10, 121517465: 121517465
24 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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 CD40LG COL1A1 COL3A1 FGF10 FGF7 FGF8
2
Show member pathways
13.44 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
3
Show member pathways
13.31 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
4
Show member pathways
13.3 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
13.03 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
9
Show member pathways
13 COL1A1 COL3A1 FGF10 FGF7 FGF8 FGFR1
10
Show member pathways
12.94 COL1A1 FGF10 FGF7 FGF8 FGFR1 FGFR2
11
Show member pathways
12.85 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
12 12.82 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.74 FGF10 FGF7 FGF8 FGFR1 FGFR2
14
Show member pathways
12.72 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.71 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
16 12.68 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
17 12.59 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.51 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.38 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.29 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.21 COL1A1 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.18 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
23 12.1 FGFR1 FGFR2 FGFR3 SH2D1A
24
Show member pathways
12.1 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.09 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
26
Show member pathways
11.93 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
27 11.89 FGF10 FGF8 RUNX2 SP7
28 11.81 FGFR1 FGFR2 FGFR3
29 11.77 FGF10 FGF8 FGFR1 FGFR3
30 11.77 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
31 11.66 CD40LG CR2 TLR9
32 11.65 FGFR1 FGFR2 FGFR3
33 11.65 ALPL FGFR1 FGFR3 RUNX2
34 11.6 CD40LG COL3A1 TNFRSF8
35 11.55 CD40LG CR2 TNFRSF8
36 11.49 FGFR1 FGFR2 RUNX2
37 11.47 FGFR1 FGFR2 FGFR3
38 11.47 COL1A1 FOSL1 RUNX2
39 11.33 FGF7 FGFR1 FGFR2 FGFR3
40 11.31 CD40LG COL1A1 COL3A1
41 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 extracellular region GO:0005576 9.36 ALPL CD40LG COL1A1 COL3A1 FGF10 FGF7

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

(show top 50) (show all 67)
# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.91 COL1A1 RUNX2 TWIST1
2 osteoblast differentiation GO:0001649 9.91 ALPL COL1A1 RUNX2 SP7 TWIST1
3 response to mechanical stimulus GO:0009612 9.9 COL1A1 COL3A1 FOSL1
4 lung development GO:0030324 9.9 FGF10 FGF8 FGFR1 FGFR2
5 wound healing GO:0042060 9.89 COL1A1 COL3A1 FGF10 FGFR2
6 positive regulation of MAPK cascade GO:0043410 9.89 FGF10 FGFR1 FGFR2 FGFR3 TLR9
7 positive regulation of epithelial cell proliferation GO:0050679 9.88 FGF10 FGF7 FGFR2 TWIST1
8 inner ear morphogenesis GO:0042472 9.88 FGF10 FGF8 FGFR1 FGFR2
9 peptidyl-tyrosine phosphorylation GO:0018108 9.88 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
10 bone development GO:0060348 9.86 FGF8 FGFR2 TWIST1
11 positive regulation of cell division GO:0051781 9.85 FGF7 FGF8 FGFR2
12 chondrocyte differentiation GO:0002062 9.85 FGFR1 FGFR3 RUNX2
13 skeletal system morphogenesis GO:0048705 9.85 COL1A1 FGFR1 FGFR2 RUNX2
14 positive regulation of protein kinase B signaling GO:0051897 9.85 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
15 positive regulation of cell cycle GO:0045787 9.84 FGFR1 FGFR2 FOSL1
16 positive chemotaxis GO:0050918 9.84 FGF10 FGF7 FGF8
17 embryonic cranial skeleton morphogenesis GO:0048701 9.83 FGFR2 RUNX2 TWIST1
18 digestive tract development GO:0048565 9.83 COL3A1 FGF10 FGFR2
19 odontogenesis GO:0042476 9.83 FGF8 FGFR2 TWIST1
20 hair follicle morphogenesis GO:0031069 9.82 FGF10 FGF7 FGFR2
21 skeletal system development GO:0001501 9.8 ALPL COL1A1 COL3A1 FGFR1 FGFR3 RUNX2
22 endochondral ossification GO:0001958 9.78 ALPL COL1A1 FGFR3 RUNX2
23 regulation of osteoblast differentiation GO:0045667 9.74 FGFR2 RUNX2
24 pentose-phosphate shunt GO:0006098 9.74 TKT TPI1
25 organ induction GO:0001759 9.74 FGF10 FGF8 FGFR1
26 mesonephros development GO:0001823 9.73 FGF10 FGF8
27 generation of neurons GO:0048699 9.73 FGF8 FGFR1
28 organ growth GO:0035265 9.73 FGF10 FGFR2
29 limb bud formation GO:0060174 9.73 FGF10 FGFR2
30 salivary gland morphogenesis GO:0007435 9.73 FGF10 FGFR1
31 positive regulation of keratinocyte proliferation GO:0010838 9.73 FGF10 FGF7
32 phosphatidylinositol phosphorylation GO:0046854 9.73 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
33 mesenchymal cell differentiation GO:0048762 9.72 FGFR1 FGFR2
34 outer ear morphogenesis GO:0042473 9.72 FGFR1 TWIST1
35 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.72 FGFR2 RUNX2
36 positive regulation of keratinocyte migration GO:0051549 9.71 FGF10 FGF7
37 lung-associated mesenchyme development GO:0060484 9.71 FGFR1 FGFR2
38 positive regulation of phospholipase activity GO:0010518 9.71 FGFR1 FGFR2 FGFR3
39 endochondral bone growth GO:0003416 9.7 FGFR2 FGFR3
40 lacrimal gland development GO:0032808 9.7 FGF10 FGFR2
41 bud elongation involved in lung branching GO:0060449 9.7 FGF10 FGFR2
42 otic vesicle formation GO:0030916 9.7 FGF10 FGF8 FGFR2
43 epidermis morphogenesis GO:0048730 9.69 FGF10 FGFR2
44 positive regulation of DNA-templated transcription, initiation GO:2000144 9.69 FOSL1 TWIST1
45 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.68 FGF7 FGFR2
46 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.68 FGF8 RUNX2
47 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.68 FGF10 FGFR2
48 orbitofrontal cortex development GO:0021769 9.67 FGFR1 FGFR2
49 ventricular zone neuroblast division GO:0021847 9.65 FGFR1 FGFR2
50 mesenchymal cell differentiation involved in lung development GO:0060915 9.64 FGF10 FGFR2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.97 CR2 FGFR1 FGFR2 TKT TLR9 TWIST1
2 heparin binding GO:0008201 9.76 FGF10 FGF7 FGFR1 FGFR2
3 protein tyrosine kinase activity GO:0004713 9.73 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.65 FGFR1 FGFR2 FGFR3
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.63 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
6 chemoattractant activity GO:0042056 9.61 FGF10 FGF7 FGF8
7 fibroblast growth factor receptor binding GO:0005104 9.58 FGF10 FGF7 FGF8
8 fibroblast growth factor binding GO:0017134 9.54 FGFR1 FGFR2 FGFR3
9 platelet-derived growth factor binding GO:0048407 9.51 COL1A1 COL3A1
10 fibroblast growth factor-activated receptor activity GO:0005007 9.5 FGFR1 FGFR2 FGFR3
11 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.43 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
12 1-phosphatidylinositol-3-kinase activity GO:0016303 9.17 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3

Sources for Pfeiffer Syndrome

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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