MCID: PFF001
MIFTS: 71

Pfeiffer Syndrome

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 54 39 12 72 50 25 56 71 29 13 52 14 69
Infectious Mononucleosis 39 12 52 41 3 42 14 69
Acs5 50 25 56 71
Craniofacial-Skeletal-Dermatologic Dysplasia 54 25 13
Acrocephalosyndactyly Type 5 50 56 71
Pfeiffer Type Acrocephalosyndactyly 50 69
Acs V 25 71
Gammaherpesviral Mononucleosis 12
Acrocephalosyndactylia Type V 12
Acrocephalosyndactyly, Type 5 50
Acrocephalosyndactyly, Type V 25
Pfeiffer's Disease 12
Filatov's Disease 12
Monocytic Angina 12
Glandular Fever 12
Noack Syndrome 25
Mononucleosis 12
Ps 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
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 : 54
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 pharyngitis and pfeiffer syndrome type 1, and has symptoms including short stature, high forehead and ptosis. 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 Liver Extracts and ponatinib 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

NIH Rare Diseases : 50 pfeiffer syndrome is a disorder that affects the development of the bones in the skull, hands and feet. signs and symptoms can include craniosynostosis, which prevents normal skull growth and affects the shape of the head and face; distinctive facial features including bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose; hearing loss; and dental problems. other features may include broad and deviated thumbs and great toes; brachydactyly; and syndactyly. it is caused by mutations in the fgfr1 or fgfr2 genes and is inherited in an autosomal dominant manner. pfeiffer syndrome is divided into 3 subtypes (type 1, type 2 and type 3) based on the presence and severity of specific features. management typically includes various surgical interventions. last updated: 7/12/2016

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).

MedlinePlus : 41 infectious mononucleosis, or "mono", is an infection usually caused by the epstein-barr virus. the virus spreads through saliva, which is why it's sometimes called "kissing disease." mono occurs most often in teens and young adults. however, you can get it at any age. symptoms of mono include fever sore throat swollen lymph glands sometimes you may also have a swollen spleen. serious problems are rare. a blood test can show if you have mono. most people get better in two to four weeks. however, you may feel tired for a few months afterward. treatment focuses on helping symptoms and includes medicines for pain and fever, warm salt water gargles and plenty of rest and fluids.

CDC : 3 Epstein-Barr virus, or EBV, is one of the most common human viruses in the world. It spreads primarily through saliva. EBV can cause infectious mononucleosis, also called mono, and other illnesses. Most people will get infected with EBV in their lifetime and will not have any symptoms. Mono caused by EBV is most common among teens and adults…

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

Related Diseases for Pfeiffer Syndrome

Diseases in the Pfeiffer Syndrome family:

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

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

(show top 50) (show all 171)
id Related Disease Score Top Affiliating Genes
1 pharyngitis 30.3 BGLAP FGFR2 RUNX2 SP7
2 pfeiffer syndrome type 1 11.9
3 pfeiffer syndrome type 2 11.9
4 pfeiffer syndrome type 3 11.9
5 pfeiffer syndrome type 1, 2 and 3 11.7
6 winkelman bethge pfeiffer syndrome 11.7
7 lymphoproliferative syndrome, x-linked, 1 11.6
8 cytomegalovirus infection 11.3
9 chronic active epstein-barr virus infection 11.3
10 cytomegalic inclusion disease 11.2
11 scott syndrome 11.0
12 proteus syndrome, somatic 11.0
13 neurological consequences of cytomegalovirus infection 10.9
14 post-transplant lymphoproliferative disease 10.9
15 salivary gland disease 10.9
16 perlman syndrome 10.8
17 phkg2-related phosphorylase kinase deficiency 10.8 FGFR1 FGFR2
18 polydactyly, preaxial type ii 10.8
19 ulna and fibula, hypoplasia of 10.7
20 pituitary hormone deficiency, combined, 3 10.7
21 trigonocephaly 1 10.7 FGFR1 FGFR2 FGFR3
22 gastric linitis plastica 10.7 FGFR3 TWIST1
23 acute opioid poisoning 10.7 FGFR3 TWIST1
24 hypogonadotropic hypogonadism 2 with or without anosmia 10.7 FGFR1 FGFR2 FGFR3
25 thanatophoric dysplasia, type i 10.7 FGFR1 FGFR2 FGFR3
26 beare-stevenson cutis gyrata syndrome 10.6 FGFR1 FGFR2 FGFR3
27 sulfite oxidase deficiency 10.6 COL1A1 FGFR3 RUNX2
28 hypochondroplasia 10.5 FGFR1 FGFR2 FGFR3
29 ehlers-danlos syndrome, cardiac valvular form 10.5 ALPL COL1A1 FGFR3
30 exudative vitreoretinopathy 3 10.5 FGF8 FGFR3
31 apert syndrome 10.5 FGFR2 FGFR3
32 caffey disease 10.5 BGLAP COL1A1 FGFR3
33 crouzon syndrome with acanthosis nigricans 10.5 FGF8 FGFR2 FGFR3
34 syringobulbia 10.4 COL1A1 FGFR1 FGFR3 RUNX2
35 bone deterioration disease 10.4 BGLAP RUNX2 SP7
36 squamous cell carcinoma 10.4 FGF10 FGFR2
37 encephalocraniocutaneous lipomatosis 10.4 FGF8 FGFR1
38 ocular hypotension 10.4 FGFR2 FGFR3
39 plasmalogens synthesis deficiency isolated 10.4 FGFR1 FGFR2 FGFR3 TWIST1
40 vulvovaginitis 10.3 ALPL BGLAP FGFR3 SP7
41 osteopoikilosis 10.3 FGFR1 FGFR2 FGFR3 TWIST1
42 grade iii astrocytoma 10.3 FGFR1 FGFR3 TWIST1
43 physical disorder 10.3 BGLAP COL1A1 RUNX2 SP7
44 heart fibrosarcoma 10.3 CD40LG SH2D1A
45 lymphoma 10.3
46 hepatitis 10.2
47 craniosynostosis 10.1
48 splenic infarction 10.1
49 tonsillitis 10.1
50 leukemia 10.0

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



Diseases related to Pfeiffer Syndrome

Symptoms & Phenotypes for Pfeiffer Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate

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

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

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

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

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

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

Head And Neck- Face:
maxillary hypoplasia
mandibular prognathism

Head And Neck- Teeth:
dental crowding

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

Skeletal- Limbs:
radiohumeral synostosis of elbow

Skeletal- Feet:
broad great toe


Clinical features from OMIM:

101600

Human phenotypes related to Pfeiffer Syndrome:

56 32 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 high forehead 56 32 frequent (33%) Frequent (79-30%) HP:0000348
3 ptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000508
4 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
5 short neck 56 32 occasional (7.5%) Occasional (29-5%) HP:0000470
6 short philtrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000322
7 wide nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0000431
8 open mouth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000194
9 finger syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006101
10 flat face 56 32 occasional (7.5%) Occasional (29-5%) HP:0012368
11 high palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000218
12 hyperlordosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0003307
13 facial asymmetry 56 32 occasional (7.5%) Occasional (29-5%) HP:0000324
14 hip dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001385
15 turricephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000262
16 broad thumb 56 32 hallmark (90%) Very frequent (99-80%) HP:0011304
17 mandibular prognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000303
18 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
19 synostosis of carpal bones 56 32 occasional (7.5%) Occasional (29-5%) HP:0005048
20 symphalangism affecting the phalanges of the hand 56 32 frequent (33%) Frequent (79-30%) HP:0009773
21 brachydactyly 32 frequent (33%) HP:0001156
22 strabismus 32 HP:0000486
23 hydrocephalus 32 HP:0000238
24 depressed nasal bridge 32 HP:0005280
25 choanal atresia 32 HP:0000453
26 short nose 32 HP:0003196
27 intellectual disability 32 HP:0001249
28 syndactyly 32 HP:0001159
29 broad hallux 32 HP:0010055
30 downslanted palpebral fissures 32 HP:0000494
31 bronchomalacia 32 HP:0002780
32 humeroradial synostosis 32 HP:0003041
33 shallow orbits 32 HP:0000586
34 dental crowding 32 HP:0000678
35 elbow ankylosis 32 HP:0003070
36 coronal craniosynostosis 32 HP:0004440
37 choanal stenosis 32 HP:0000452
38 cloverleaf skull 32 occasional (7.5%) HP:0002676
39 arnold-chiari malformation 32 HP:0002308
40 cartilaginous trachea 32 HP:0005347
41 brachyturricephaly 32 HP:0000244
42 hypoplasia of the maxilla 32 HP:0000327
43 brachydactyly syndrome 56 Frequent (79-30%)
44 cheekbone underdevelopment 56 Very frequent (99-80%)
45 shortening of all middle phalanges of the fingers 32 HP:0006110
46 short middle phalanx of toe 32 HP:0003795
47 hypoplasia of the zygomatic bone 32 hallmark (90%) HP:0010669

UMLS symptoms related to Pfeiffer Syndrome:


fever, pruritus

MGI Mouse Phenotypes related to Pfeiffer Syndrome:

44 (show all 22)
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.44 TLR9 TNFRSF8 TPI1 ALPL CD40LG COL1A1
2 homeostasis/metabolism MP:0005376 10.4 FGFR1 FGFR2 FGFR3 RUNX2 SH2D1A SP7
3 immune system MP:0005387 10.39 CD40LG COL1A1 CR2 FGF10 FGF7 FGF8
4 cellular MP:0005384 10.38 COL1A1 FGF10 FGF8 FGFR1 FGFR2 FGFR3
5 growth/size/body region MP:0005378 10.37 ALPL COL1A1 FGF10 FGF7 FGF8 FGFR1
6 mortality/aging MP:0010768 10.36 FGF10 FGF8 FGFR1 FGFR2 FGFR3 FOSL1
7 cardiovascular system MP:0005385 10.35 ALPL CD40LG COL1A1 FGF10 FGF8 FGFR1
8 digestive/alimentary MP:0005381 10.28 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
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 COL1A1 FGF10 FGF8 FGFR1 FGFR2 FGFR3
13 nervous system MP:0003631 10.18 FGF8 FGFR1 FGFR2 FGFR3 RUNX2 TKT
14 integument MP:0010771 10.1 RUNX2 CD40LG COL1A1 FGF10 FGF7 FGFR1
15 renal/urinary system MP:0005367 10.06 CD40LG COL1A1 CR2 FGF10 FGF7 FGF8
16 muscle MP:0005369 10.03 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
17 hearing/vestibular/ear MP:0005377 10.02 COL1A1 FGF10 FGF8 FGFR1 FGFR2 FGFR3
18 normal MP:0002873 10.02 FGF8 FGFR1 FGFR2 FGFR3 FOSL1 SP7
19 reproductive system MP:0005389 10 ALPL CD40LG COL1A1 FGF10 FGF7 FGF8
20 skeleton MP:0005390 9.77 ALPL CD40LG COL1A1 FGF10 FGF7 FGF8
21 respiratory system MP:0005388 9.76 ALPL COL1A1 FGF10 FGF8 FGFR2 FGFR3
22 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 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 3,Phase 1,Phase 2
2
ponatinib Approved Phase 2 943319-70-8 24826799
3 Mitogens Phase 2,Phase 1
4 PONATINIB  Phase 2
5 Protein Kinase Inhibitors Phase 2
6 tyrosine Nutraceutical Phase 1, Phase 2
7 Antibodies Phase 1
8 Immunoglobulins Phase 1
9 insulin
10 Insulin, Globin Zinc
11 Whey Protein Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 ARQ 087 in Subjects With FGFR2 Gene Fusion Positive Inoperable or Advanced Intrahepatic Cholangiocarcinoma Recruiting NCT03230318 Phase 3 ARQ 087
2 Dovitinib for Gastric Cancer With FGFR2 Amplification Completed NCT01719549 Phase 2 Dovitinib
3 A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma Recruiting NCT02150967 Phase 2 BGJ398
4 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
5 Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 Fusions Active, not recruiting NCT02265341 Phase 2 Ponatinib Hydrochloride
6 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
7 Pediatric MATCH: Pan-FGFR Tyrosine Kinase Inhibitor JNJ-42756493 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations Not yet recruiting NCT03210714 Phase 2 Erdafitinib
8 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
9 Protein, Fiber, and Metabolic Syndrome - The PROFIMET Study Completed NCT00579657
10 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:

id Genetic test Affiliating Genes
1 Pfeiffer Syndrome 29

Anatomical Context for Pfeiffer Syndrome

MalaCards organs/tissues related to Pfeiffer Syndrome:

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

Publications for Pfeiffer Syndrome

Articles related to Pfeiffer Syndrome:

(show top 50) (show all 118)
id Title Authors Year
1
Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis. ( 28845899 )
2017
2
A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome. ( 28815901 )
2017
3
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia. ( 28600064 )
2017
4
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. ( 27762162 )
2016
5
Cochlear Implantation in a Patient With Pfeiffer Syndrome and Temporal Bone Vascular Anomalies. ( 26825670 )
2016
6
The ophthalmic sequelae of Pfeiffer syndrome and the long-term visual outcomes after craniofacial surgery. ( 27418250 )
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
Clinical Image - Radiographic manifestations in Pfeiffer syndrome. ( 25892094 )
2015
9
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. ( 26096994 )
2015
10
A Delayed Finding of a Tracheal Cartilaginous Sleeve in a Patient with Pfeiffer Syndrome Type 2 and a Complex Airway History. ( 26230305 )
2015
11
Describing Crouzon and Pfeiffer syndrome based on principal component analysis. ( 25792443 )
2015
12
Pfeiffer syndrome. ( 24891917 )
2014
13
Upper extremity anomalies in Pfeiffer syndrome and mutational correlations. ( 24776567 )
2014
14
Pfeiffer syndrome: the importance of prenatal diagnosis. ( 25183684 )
2014
15
Premature Closure of the Spheno-occipital Synchondrosis in Pfeiffer Syndrome: A Link to Midface Hypoplasia. ( 24406578 )
2014
16
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. ( 25251565 )
2014
17
Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families. ( 25129254 )
2014
18
Pfeiffer Syndrome Type 3, a rare and unusual Craniosynostosis: Case reports from Korle Bu Teaching Hospital, Accra,Ghana. ( 24122692 )
2013
19
Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks' gestation. ( 23550868 )
2013
20
The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself. ( 23532954 )
2013
21
FGFR1 and FGFR2 mutations in Pfeiffer syndrome. ( 23348274 )
2013
22
FGFR mutation in Pfeiffer syndrome. ( 23851850 )
2013
23
Pfeiffer syndrome: analysis of a clinical series and development of a classification system. ( 23348287 )
2013
24
Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis. ( 24411056 )
2013
25
Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome. ( 24036790 )
2013
26
Pfeiffer syndrome type II discovered perinatally: Report of an observation and review of the literature. ( 22921691 )
2012
27
Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan. ( 22965899 )
2012
28
Intubation using a "bonfils fiberscope" in a patient with pfeiffer syndrome. ( 23208638 )
2011
29
Unique airway finding in a case of Pfeiffer syndrome and its management. ( 21897525 )
2011
30
Biological effect of resorbable plates on normal osteoblasts and osteoblasts derived from Pfeiffer syndrome. ( 21558934 )
2011
31
Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome: an overview of physical, neurological, and oral characteristics. ( 20129888 )
2010
32
Intestinal malrotation in a patient with Pfeiffer syndrome type 2. ( 20509766 )
2010
33
A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings. ( 20809772 )
2010
34
Audiologic findings in Pfeiffer syndrome. ( 20856029 )
2010
35
Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis. ( 20186072 )
2010
36
A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene. ( 21189955 )
2010
37
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. ( 19066959 )
2009
38
Pfeiffer syndrome: a treatment evaluation. ( 19407629 )
2009
39
Pyrexia after transcranial surgery for Pfeiffer syndrome. ( 19242364 )
2009
40
Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement. ( 19390453 )
2009
41
Cleft palate in Pfeiffer syndrome. ( 19816260 )
2009
42
A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage. ( 18049087 )
2008
43
A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia. ( 18671283 )
2008
44
Monoblock craniofacial internal distraction in a child with Pfeiffer syndrome: a case report. ( 18437024 )
2008
45
Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of treatment, and risk factors. ( 18216676 )
2008
46
High-grade vesicoureteral reflux in Pfeiffer syndrome. ( 18825630 )
2008
47
Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation. ( 18618990 )
2008
48
Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation. ( 18541976 )
2008
49
Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome. ( 16760743 )
2006
50
Tracheal cartilaginous sleeve with cricoid cartilage involvement in Pfeiffer syndrome. ( 16633174 )
2006

Variations for Pfeiffer Syndrome

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

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

ClinVar genetic disease variations for Pfeiffer Syndrome:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121918487 GRCh37 Chromosome 10, 123276892: 123276892
2 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
3 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
4 FGFR2 NM_000141.4(FGFR2): c.1021A> C (p.Thr341Pro) single nucleotide variant Pathogenic rs121918495 GRCh37 Chromosome 10, 123276896: 123276896
5 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh37 Chromosome 10, 123279566: 123279566
6 FGFR2 NM_000141.4(FGFR2): c.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 39)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 CD40LG COL1A1 FGF10 FGF7 FGF8 FGFR1
2
Show member pathways
13.44 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
3
Show member pathways
13.32 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
13.05 COL1A1 FGF10 FGF7 FGF8 FGFR1 FGFR2
7
Show member pathways
13.02 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
8
Show member pathways
12.83 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.72 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.72 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
11 12.67 COL1A1 FGF10 FGF7 FGF8 FGFR1 FGFR2
12 12.66 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
13 12.61 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
14 12.58 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.55 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.51 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.4 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.29 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.2 COL1A1 FGFR1 FGFR2 FGFR3
20 12.09 FGFR1 FGFR2 FGFR3 SH2D1A
21
Show member pathways
12.02 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
22
Show member pathways
11.9 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
23
Show member pathways
11.84 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
24
Show member pathways
11.83 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
25 11.79 FGFR1 FGFR2 FGFR3
26 11.78 FGF10 FGF8 FGFR1 FGFR3
27 11.77 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
28 11.7 BGLAP FGF10 FGF8 RUNX2 SP7
29 11.69 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
30 11.68 CD40LG CR2 TLR9
31 11.65 FGFR1 FGFR2 FGFR3
32 11.65 ALPL FGFR1 FGFR3 RUNX2
33 11.55 CD40LG CR2 TNFRSF8
34 11.5 BGLAP RUNX2 TWIST1
35 11.47 FGFR1 FGFR2 FGFR3
36 11.47 BGLAP FGFR1 FGFR2 RUNX2
37 11.43 BGLAP COL1A1 FOSL1 RUNX2
38 11.4 BGLAP COL1A1 RUNX2
39 10.82 BGLAP COL1A1

GO Terms for Pfeiffer Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.36 ALPL BGLAP CD40LG COL1A1 FGF10 FGF7

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

(show top 50) (show all 70)
id Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.97 BGLAP FGF10 FGF8 FOSL1
2 peptidyl-tyrosine phosphorylation GO:0018108 9.93 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
3 wound healing GO:0042060 9.92 COL1A1 FGF10 FGFR2
4 lung development GO:0030324 9.92 FGF10 FGF8 FGFR1 FGFR2
5 ossification GO:0001503 9.91 BGLAP COL1A1 RUNX2 TWIST1
6 positive regulation of epithelial cell proliferation GO:0050679 9.91 FGF10 FGF7 FGFR2 TWIST1
7 skeletal system development GO:0001501 9.91 ALPL BGLAP COL1A1 FGFR1 FGFR3 RUNX2
8 response to mechanical stimulus GO:0009612 9.9 BGLAP COL1A1 FOSL1
9 inner ear morphogenesis GO:0042472 9.9 FGF10 FGF8 FGFR1 FGFR2
10 bone development GO:0060348 9.89 BGLAP FGF8 FGFR2 TWIST1
11 phosphatidylinositol-mediated signaling GO:0048015 9.88 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
12 skeletal system morphogenesis GO:0048705 9.87 COL1A1 FGFR1 FGFR2 RUNX2
13 positive regulation of cell division GO:0051781 9.86 FGF7 FGF8 FGFR2
14 chondrocyte differentiation GO:0002062 9.86 FGFR1 FGFR3 RUNX2
15 positive regulation of cell cycle GO:0045787 9.85 FGFR1 FGFR2 FOSL1
16 positive chemotaxis GO:0050918 9.85 FGF10 FGF7 FGF8
17 osteoblast differentiation GO:0001649 9.85 ALPL BGLAP COL1A1 RUNX2 SP7 TWIST1
18 bone mineralization GO:0030282 9.84 BGLAP FGFR2 FGFR3
19 embryonic cranial skeleton morphogenesis GO:0048701 9.84 FGFR2 RUNX2 TWIST1
20 odontogenesis GO:0042476 9.84 BGLAP FGF8 FGFR2 TWIST1
21 hair follicle morphogenesis GO:0031069 9.83 FGF10 FGF7 FGFR2
22 positive regulation of MAPK cascade GO:0043410 9.83 FGF10 FGFR1 FGFR2 FGFR3
23 endochondral ossification GO:0001958 9.81 ALPL COL1A1 FGFR3 RUNX2
24 phosphatidylinositol phosphorylation GO:0046854 9.8 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
25 organ induction GO:0001759 9.76 FGF10 FGF8 FGFR1
26 regulation of osteoblast differentiation GO:0045667 9.74 FGFR2 RUNX2
27 pentose-phosphate shunt GO:0006098 9.74 TKT TPI1
28 mesonephros development GO:0001823 9.74 FGF10 FGF8
29 generation of neurons GO:0048699 9.74 FGF8 FGFR1
30 organ growth GO:0035265 9.74 FGF10 FGFR2
31 salivary gland morphogenesis GO:0007435 9.73 FGF10 FGFR1
32 limb bud formation GO:0060174 9.73 FGF10 FGFR2
33 positive regulation of keratinocyte proliferation GO:0010838 9.73 FGF10 FGF7
34 lung-associated mesenchyme development GO:0060484 9.73 FGFR1 FGFR2
35 mesenchymal cell differentiation GO:0048762 9.73 FGFR1 FGFR2
36 response to gravity GO:0009629 9.73 BGLAP FOSL1
37 positive regulation of phospholipase activity GO:0010518 9.73 FGFR1 FGFR2 FGFR3
38 fibroblast growth factor receptor signaling pathway GO:0008543 9.73 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
39 outer ear morphogenesis GO:0042473 9.72 FGFR1 TWIST1
40 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.72 FGFR2 RUNX2
41 positive regulation of keratinocyte migration GO:0051549 9.72 FGF10 FGF7
42 otic vesicle formation GO:0030916 9.72 FGF10 FGF8 FGFR2
43 endochondral bone growth GO:0003416 9.71 FGFR2 FGFR3
44 lacrimal gland development GO:0032808 9.71 FGF10 FGFR2
45 epidermis morphogenesis GO:0048730 9.7 FGF10 FGFR2
46 positive regulation of DNA-templated transcription, initiation GO:2000144 9.7 FOSL1 TWIST1
47 bud elongation involved in lung branching GO:0060449 9.7 FGF10 FGFR2
48 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.7 FGF7 FGFR2
49 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.69 FGF10 FGFR2
50 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.69 FGF8 RUNX2

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

(show all 11)
id 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 fibroblast growth factor-activated receptor activity GO:0005007 9.5 FGFR1 FGFR2 FGFR3
10 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.43 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
11 1-phosphatidylinositol-3-kinase activity GO:0016303 9.17 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3

Sources for Pfeiffer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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