PS
MCID: PFF001
MIFTS: 78

Pfeiffer Syndrome (PS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Infectious diseases, Rare diseases
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Aliases & Classifications for Pfeiffer Syndrome

MalaCards integrated aliases for Pfeiffer Syndrome:

Name: Pfeiffer Syndrome 57 39 11 19 42 58 75 73 28 12 53 5 14 38 71 33
Infectious Mononucleosis 39 11 53 41 43 14 16 71 75 31 33
Craniofacial-Skeletal-Dermatologic Dysplasia 57 19 42 28 5
Acs5 57 19 42 58 73
Gammaherpesviral Mononucleosis 11 31 33
Acrocephalosyndactyly Type 5 19 58 73
Pfeiffer Syndrome Type 3 58 28 5
Noack Syndrome 57 19 42
Acs V 57 42 73
Pfeiffer Type Acrocephalosyndactyly 19 71
Acrocephalosyndactyly, Type V 57 42
Pfeiffer Syndrome Type 2 58 28
Glandular Fever 11 33
Dysplasia, Craniofacial-Skeletal-Dermatologic 38
Craniofacial-Skeletal-Dermatologic Syndrome 19
Acrocephalosyndactylia Type V 11
Acrocephalosyndactyly, Type 5 19
Classic Pfeiffer Syndrome 58
Pfeiffer Syndrome Variant 5
Pfeiffer Syndrome Type 1 58
Infectious Adenitis 33
Pfeiffer's Disease 11
Filatov's Disease 11
Monocytic Angina 11
Pfeiffer Disease 33
Kissing Disease 33
Mononucleosis 11
Pfeiffer 16
Acsv 19
Ps 73

Characteristics:


Inheritance:

Pfeiffer Syndrome: Autosomal dominant 58 57
Pfeiffer Syndrome Type 3: Autosomal dominant 58
Pfeiffer Syndrome Type 2: Autosomal dominant 58
Pfeiffer Syndrome Type 1: Autosomal dominant 58

Prevelance:

1-9/100000 (Europe) 58

Age Of Onset:

Pfeiffer Syndrome: Antenatal,Neonatal 58
Pfeiffer Syndrome Type 3: Antenatal,Neonatal 58
Pfeiffer Syndrome Type 2: Antenatal,Neonatal 58
Pfeiffer Syndrome Type 1: Antenatal,Neonatal 58

Age Of Death:

Pfeiffer Syndrome: any age 58
Pfeiffer Syndrome Type 3: early childhood,infantile 58
Pfeiffer Syndrome Type 2: early childhood,infantile 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
de novo mutation in most cases
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


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Pfeiffer Syndrome

MedlinePlus Genetics: 42 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.Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common.In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. In addition, individuals with type 2 or 3 can have fusion of the bones (ankylosis) in the elbow or other joints, limiting mobility, and abnormalities of the face and airways, which can cause life-threatening breathing problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull.

MalaCards based summary: Pfeiffer Syndrome, also known as infectious mononucleosis, is related to lymphoproliferative syndrome, x-linked, 1 and human cytomegalovirus infection, and has symptoms including fever and pruritus. An important gene associated with Pfeiffer Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Valaciclovir and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skull, bone and spleen, and related phenotypes are ptosis and high palate

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) (Updated 24-Oct-2022)

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.

GARD: 19 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 genetic changes in the FGFR1 or FGFR2 genes and is inherited in an autosomal dominant manner.

Disease Ontology 11 Pfeiffer syndrome: An acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull.

Infectious mononucleosis: A viral infectious disease that results in inflammation, located in pharynx, has material basis in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.

UniProtKB/Swiss-Prot: 73 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).

Orphanet: 58 An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.

Wikipedia 75 Pfeiffer syndrome: Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of... more...

Infectious mononucleosis: Infectious mononucleosis (IM, mono), also known as glandular fever, is an infection usually caused by... 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 838)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome, x-linked, 1 33.2 TNFRSF8 SH2D1A PTPN11
2 human cytomegalovirus infection 32.4 CD8A CCR6 AKT1
3 exanthem 31.7 CD8A CCR6 AKT1
4 lymphoma, hodgkin, classic 31.7 TNFRSF8 SH2D1A IL2RB CCR6
5 lymphoproliferative syndrome 31.5 TNFRSF8 SH2D1A PTPN11 CD40LG CCR6
6 chromosome 2q35 duplication syndrome 31.4 NOG FGFR3 FGFR2 FGFR1 FGF8
7 craniosynostosis 31.4 TWIST1 PLCG1 NOG FGFR3 FGFR2 FGFR1
8 hypertelorism 31.3 TWIST1 PTPN11 FGFR2
9 common cold 31.3 CD8A CD40LG CCR6
10 meningoencephalitis 31.3 SH2D1A CD8A CD40LG CCR6
11 apert syndrome 31.2 TWIST1 FGFR3 FGFR2 FGFR1 FGF8 FGF7
12 syphilis 31.2 CD8A CD40LG CCR6
13 lymphoma 31.2 TNFRSF8 SH2D1A PTPN11 FGFR1 CR2 CCR6
14 ankylosis 31.1 NOG FGFR2 FGFR1 CCR6
15 anemia, autoimmune hemolytic 31.1 CR2 CD8A CD40LG CCR6
16 synostosis 31.1 TWIST1 NOG FGFR3 FGFR2 FGFR1 FGF8
17 antley-bixler syndrome 31.0 FGFR3 FGFR2 FGFR1
18 hemophagocytic lymphohistiocytosis 30.9 SH2D1A CD8A CCR6
19 common variable immunodeficiency 30.9 TNFRSF8 SH2D1A IL2RB CR2 CD40LG AKT1
20 muenke syndrome 30.9 TWIST1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
21 crouzon syndrome 30.9 TWIST1 FGFR3 FGFR2 FGFR1 FGF8 FGF7
22 leukemia, chronic lymphocytic 30.9 TNFRSF8 PTPN11 CR2 CD8A CD40LG CCR6
23 craniosynostosis 1 30.8 TWIST1 ERF
24 achondroplasia 30.7 FGFR3 FGFR2 FGFR1
25 lymphoma, non-hodgkin, familial 30.7 TNFRSF8 SH2D1A IL2RB CR2 CD8A CCR6
26 polyclonal hypergammaglobulinemia 30.7 CR2 CD8A CCR6
27 bone disease 30.6 NOG FGFR3 FGFR2 FGFR1 CD40LG CCR6
28 saethre-chotzen syndrome 30.6 TWIST1 FGFR3 FGFR2 FGFR1 FGF8
29 adult t-cell leukemia/lymphoma 30.6 TNFRSF8 CD8A CCR6
30 peripheral t-cell lymphoma 30.6 TNFRSF8 FGFR3 CD8A CCR6
31 agammaglobulinemia 30.6 SH2D1A CR2 CD40LG
32 strabismus 30.6 TWIST1 PTPN11 FGFR3 FGFR2
33 immune deficiency disease 30.5 TNFRSF8 SH2D1A IL2RB CR2 CD8A CD40LG
34 hypophosphatemia 30.4 FGFR2 FGFR1 FGF7 FGF2
35 pneumocystosis 30.4 CD8A CD40LG CCR6
36 t cell deficiency 30.4 CD8A CD40LG CCR6
37 marginal zone b-cell lymphoma 30.4 TNFRSF8 CR2 CCR6
38 hypertelorism, microtia, facial clefting syndrome 30.4 TWIST1 PTPN11 FGFR3 FGFR2 FGFR1
39 thanatophoric dysplasia, type i 30.4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
40 plague 30.4 ERF CD8A CCR6
41 tooth agenesis 30.4 FGFR2 FGFR1 FGF8 FGF10
42 jackson-weiss syndrome 30.3 TWIST1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
43 peripheral nervous system disease 30.3 TNFRSF8 FGF2 CD8A CCR6 AKT1
44 dermatitis, atopic 30.3 TNFRSF8 IL2RB CD8A CCR6
45 extrinsic allergic alveolitis 30.3 IL2RB CD8A CCR6
46 t-cell acute lymphoblastic leukemia 30.3 TNFRSF8 PLCG1 IL2RB CR2 CD8A CCR6
47 dysostosis 30.3 TWIST1 NOG FGFR3 FGFR2 FGFR1 FGF8
48 spondyloarthropathy 1 30.3 CD8A CD40LG CCR6
49 parietal foramina 30.3 TWIST1 FGFR3 FGF8
50 osteochondrodysplasia 30.3 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF2

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



Diseases related to Pfeiffer Syndrome

Symptoms & Phenotypes for Pfeiffer Syndrome

Human phenotypes related to Pfeiffer Syndrome:

58 30 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000508
2 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0000218
3 aqueductal stenosis 58 30 Occasional (7.5%) Very frequent (99-80%)
Frequent (79-30%)
Occasional (29-5%)
HP:0002410
4 depressed nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0005280
5 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0000316
6 short nose 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0003196
7 broad hallux phalanx 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0010059
8 broad thumb 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0011304
9 brachycephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000248
10 laryngomalacia 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
HP:0001601
11 hypoplasia of the zygomatic bone 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010669
12 proptosis 58 30 Frequent (33%) Very frequent (99-80%)
Very frequent (99-80%)
Frequent (79-30%)
HP:0000520
13 malar flattening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000272
14 high forehead 58 30 Frequent (33%) Frequent (79-30%)
Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0000348
15 short hallux 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0010109
16 midface retrusion 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0011800
17 limitation of joint mobility 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001376
18 tracheomalacia 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
HP:0002779
19 stenosis of the external auditory canal 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000402
20 brachyturricephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000244
21 cloverleaf skull 58 30 Occasional (7.5%) Very frequent (99-80%)
HP:0002676
22 aplasia/hypoplasia of the thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009601
23 respiratory distress 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002098
24 hallux varus 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0008080
25 deviation of the thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009603
26 bicoronal synostosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011318
27 chiari malformation 30 Hallmark (90%) HP:0002308
28 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001249
29 hydrocephalus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000238
30 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
31 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000431
32 low-set ears 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000369
33 brachydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001156
34 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0004209
35 choanal atresia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000453
36 turricephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000262
37 finger syndactyly 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0006101
38 small hand 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0200055
39 symphalangism affecting the phalanges of the hand 58 30 Frequent (33%) Frequent (79-30%)
HP:0009773
40 toe syndactyly 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0001770
41 atresia of the external auditory canal 58 30 Frequent (33%) Frequent (79-30%)
HP:0000413
42 short foot 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0001773
43 short palm 58 30 Frequent (33%) Frequent (79-30%)
HP:0004279
44 seizure 30 Frequent (33%) HP:0001250
45 short neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000470
46 hyperlordosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003307
47 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0000365
48 hip dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001385
49 mandibular prognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000303
50 increased intracranial pressure 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0002516

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
hydrocephalus
arnold-chiari malformation
occasional mental retardation

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

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

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 (Updated 24-Oct-2022)

UMLS symptoms related to Pfeiffer Syndrome:


fever; pruritus

GenomeRNAi Phenotypes related to Pfeiffer Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 AKT1 CCR6 CD40LG CD8A CR2 ERF
2 no effect GR00402-S-2 10.18 AKT1 CCR6 CD40LG CR2 ERF FGF10

MGI Mouse Phenotypes related to Pfeiffer Syndrome:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.45 AKT1 CCR6 CD40LG CD8A ERF FGF10
2 homeostasis/metabolism MP:0005376 10.41 AKT1 CCR6 CD40LG CR2 ERF FGF10
3 normal MP:0002873 10.32 AKT1 CCR6 CD8A ERF FGF10 FGF8
4 renal/urinary system MP:0005367 10.31 CD40LG CD8A CR2 ERF FGF10 FGF7
5 cellular MP:0005384 10.31 AKT1 CD40LG CD8A ERF FGF10 FGF2
6 endocrine/exocrine gland MP:0005379 10.29 AKT1 CD40LG CD8A FGF10 FGF8 FGFR1
7 immune system MP:0005387 10.27 AKT1 CCR6 CD40LG CD8A CR2 FGF10
8 limbs/digits/tail MP:0005371 10.25 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
9 embryo MP:0005380 10.24 AKT1 ERF FGF10 FGF8 FGFR1 FGFR2
10 hearing/vestibular/ear MP:0005377 10.22 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
11 cardiovascular system MP:0005385 10.22 AKT1 CCR6 CD40LG ERF FGF10 FGF2
12 muscle MP:0005369 10.21 AKT1 FGF10 FGF2 FGF8 FGFR1 FGFR2
13 digestive/alimentary MP:0005381 10.13 FGF10 FGF8 FGFR1 FGFR2 FGFR3 NOG
14 reproductive system MP:0005389 10.13 AKT1 CD40LG ERF FGF10 FGF2 FGF7
15 craniofacial MP:0005382 10.11 ERF FGF10 FGF8 FGFR1 FGFR2 FGFR3
16 hematopoietic system MP:0005397 10.11 AKT1 CCR6 CD40LG CD8A CR2 ERF
17 skeleton MP:0005390 10.03 AKT1 CD40LG ERF FGF10 FGF2 FGF8
18 mortality/aging MP:0010768 9.86 AKT1 CD40LG CD8A CR2 ERF FGF10
19 integument MP:0010771 9.44 AKT1 CD40LG CD8A FGF10 FGF7 FGFR1

Drugs & Therapeutics for Pfeiffer Syndrome

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valaciclovir Approved, Investigational Phase 1, Phase 2 124832-27-5, 124832-26-4 60773 135398742
2 Anti-Infective Agents Phase 1, Phase 2
3 Antiviral Agents Phase 1, Phase 2
4 Vaccines Phase 1
5 Antibodies, Blocking Phase 1
6 Antibodies Phase 1
7 Immunoglobulins Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Acupuncture for Infectious Mononucleosis Trial Terminated NCT00598988 Phase 2, Phase 3
2 Randomized Study Assessing the Antiviral Activity and Safety of Valacyclovir in Primary Infectious Mononucleosis Completed NCT00274404 Phase 1, Phase 2 valacyclovir
3 Randomized, Placebo-Controlled, Double-Blind Study to Assess Clinical and Antiviral Activity of Valomaciclovir (EPB 348) in Infectious Mononucleosis Due to Primary Epstein-Barr Virus Infection (Mono 6) Completed NCT00575185 Phase 1, Phase 2 Valomaciclovir;placebo
4 A Phase II Multicenter Open Label Risk Stratified Sequential Treatment With Rituximab, Brentuximab Vedotin and Bendamustine (RBvB) in Patients Newly Diagnosed. Withdrawn NCT04138875 Phase 2 Rituximab;Brentuximab Vedotin;Bendamustine
5 Phase 1 Study of the Safety and Immunogenicity of an Epstein-Barr Virus (EBV) gp350- Ferritin Nanoparticle Vaccine in Healthy Adults With or Without EBV Infection Recruiting NCT04645147 Phase 1
6 Mikrobiologi Ved svær Akut Tonsillit, peritonsillær Phlegmone og infektiøs Mononukleose Unknown status NCT02715037
7 Early Detection of Epstein-Barr Virus Related Disease. Improving Quantification of EBV in Blood Samples Using Polymerase Chain Reaction. Unknown status NCT03546101
8 Supporting Health Care Professionals in Hospital and Primary Care to Promote Adequate HIV Risk and Indicator Condition Driven Testing in Routine Care. Recruiting NCT05225493
9 Preclinical Drug Discovery Informed by Public Health: Initiating a Step-Change in the Development of New Human Models Not yet recruiting NCT05473325
10 The Use of Point-of-Care Ultrasound in the Diagnosis of Acute Infectious Mononucleosis in the Emergency Department Terminated NCT02463669

Search NIH Clinical Center for Pfeiffer Syndrome

Cochrane evidence based reviews: infectious mononucleosis

Genetic Tests for Pfeiffer Syndrome

Genetic tests related to Pfeiffer Syndrome:

# Genetic test Affiliating Genes
1 Pfeiffer Syndrome 28 FGFR1 FGFR2
2 Pfeiffer Syndrome Type 3 28
3 Pfeiffer Syndrome Type 2 28
4 Craniofacial-Skeletal-Dermatologic Dysplasia 28

Anatomical Context for Pfeiffer Syndrome

Organs/tissues related to Pfeiffer Syndrome:

FMA: Skull
MalaCards : Bone, Spleen, Eye, Liver, Brain, Trachea, T Cells
ODiseA: Respiratory System-Trachea, Respiratory System

Publications for Pfeiffer Syndrome

Articles related to Pfeiffer Syndrome:

(show top 50) (show all 8494)
# Title Authors PMID Year
1
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. 53 62 57 5
9475591 1998
2
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. 53 62 57 5
9150725 1997
3
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 53 62 57 5
7795583 1995
4
FGFR2 mutations in Pfeiffer syndrome. 53 62 57 5
7719333 1995
5
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 53 62 57 5
7719345 1995
6
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. 53 62 57 5
7874169 1994
7
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. 62 57 5
15996217 2005
8
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. 62 57 5
14564217 2003
9
Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2. 62 57 5
12400058 2002
10
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 62 57 5
8528214 1995
11
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 62 57 5
8434615 1993
12
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. 53 62 5
16957473 2006
13
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. 53 62 5
16418739 2006
14
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. 53 62 5
15523615 2004
15
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. 53 62 5
15282208 2004
16
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. 53 62 5
14613973 2004
17
Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. 53 62 5
11807866 2002
18
A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. 53 62 5
10942429 2000
19
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. 53 62 5
10945669 2000
20
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 53 62 57
10712195 2000
21
Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2. 53 62 5
10731087 1999
22
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 53 62 5
10394936 1999
23
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. 53 62 5
9714439 1998
24
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. 53 62 57
8644708 1996
25
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 62 5
25251565 2014
26
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 62 5
24127277 2013
27
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population. 62 5
24497711 2013
28
Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers. 62 5
11325814 2001
29
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 62 5
10861678 2000
30
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 62 5
10406670 1999
31
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. 62 5
9973282 1999
32
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children. 53 5
9586546 1998
33
Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification. 62 57
9475589 1998
34
Pfeiffer syndrome type 2: further delineation and review of the literature. 62 57
9475590 1998
35
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 62 5
9002682 1997
36
Type 3 Pfeiffer syndrome with normal thumbs. 62 5
8958319 1996
37
FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 62 5
8957519 1996
38
Audiologic and otologic characteristics of Pfeiffer syndrome. 62 57
8939381 1996
39
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. 62 57
8841188 1996
40
Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. 62 57
7881412 1994
41
Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child. 62 57
1472357 1992
42
Congenital tracheal stenosis in Pfeiffer syndrome. 62 57
2208766 1990
43
Mild expression of the Pfeiffer syndrome. 62 57
3342547 1988
44
Cloverleaf skull associated with Pfeiffer syndrome: pathology and management. 62 57
3792393 1986
45
The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. 62 57
856510 1977
46
Pfeiffer syndrome: report of a family and review of the literature. 62 57
957376 1976
47
Familial acrocephalosyndactyly (Pfeiffer syndrome). 62 57
4641185 1972
48
Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes. 62 57
5551881 1971
49
Diversity of adenosine deaminase in children with EBV-related diseases. 62 41
35986367 2022
50
Infectious mononucleosis is associated with an increased incidence of multiple sclerosis: Results from a cohort study of 32,116 outpatients in Germany. 62 41
35983044 2022

Variations for Pfeiffer Syndrome

ClinVar genetic disease variations for Pfeiffer Syndrome:

5 (show top 50) (show all 272)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR2 NM_000141.5(FGFR2):c.755_757delinsTCT (p.Ser252_Pro253delinsPheSer) INDEL Pathogenic
13280 rs281865420 GRCh37: 10:123279675-123279677
GRCh38: 10:121520161-121520163
2 FGFR2 NM_000141.5(FGFR2):c.818_820del (p.Asp273del) DEL Pathogenic
13288 rs121918503 GRCh37: 10:123279612-123279614
GRCh38: 10:121520098-121520100
3 FGFR2 NM_000141.5(FGFR2):c.940-3_946delinsACC INDEL Pathogenic
13292 rs1589828632 GRCh37: 10:123276971-123276980
GRCh38: 10:121517457-121517466
4 FGFR2 NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala) SNV Pathogenic
13300 rs121918510 GRCh37: 10:123276955-123276955
GRCh38: 10:121517441-121517441
5 FGFR2 NM_000141.5(FGFR2):c.864_881del (p.Ile288_Val294delinsMet) DEL Pathogenic
254237 rs886037837 GRCh37: 10:123279551-123279568
GRCh38: 10:121520037-121520054
6 FGFR1 NM_023110.3(FGFR1):c.1430+1G>A SNV Pathogenic
463529 rs1554552774 GRCh37: 8:38275745-38275745
GRCh38: 8:38418227-38418227
7 FGFR1 NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) SNV Pathogenic
502125 rs1554570813 GRCh37: 8:38287344-38287344
GRCh38: 8:38429826-38429826
8 FGFR1 NM_023110.3(FGFR1):c.817G>A (p.Val273Met) SNV Pathogenic
430370 rs1131691929 GRCh37: 8:38282146-38282146
GRCh38: 8:38424628-38424628
9 FGFR1 NM_023110.3(FGFR1):c.1265dup (p.Leu423fs) DUP Pathogenic
1418780 GRCh37: 8:38277069-38277070
GRCh38: 8:38419551-38419552
10 FGFR1 NC_000008.11:g.(?_38424489)_(38461126_?)del DEL Pathogenic
832441 GRCh37: 8:38282007-38318644
GRCh38:
11 FGFR2 NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys) SNV Pathogenic
Pathogenic
Pathogenic
13281 rs121918499 GRCh37: 10:123279562-123279562
GRCh38: 10:121520048-121520048
12 FGFR1 NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) SNV Pathogenic
Pathogenic
16279 rs121909627 GRCh37: 8:38282208-38282208
GRCh38: 8:38424690-38424690
13 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) SNV Pathogenic
478046 rs1554927408 GRCh37: 10:123274768-123274768
GRCh38: 10:121515254-121515254
14 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic
13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
15 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic
Pathogenic
13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
16 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) SNV Pathogenic
Pathogenic
13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
17 FGFR2 NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) SNV Pathogenic
449024 rs1434545235 GRCh37: 10:123325014-123325014
GRCh38: 10:121565500-121565500
18 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic
13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
19 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Pathogenic
13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
20 FGFR2 NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) SNV Pathogenic
13276 rs121918497 GRCh37: 10:123279566-123279566
GRCh38: 10:121520052-121520052
21 FGFR2 NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) SNV Pathogenic
Pathogenic
13286 rs121918502 GRCh37: 10:123276865-123276865
GRCh38: 10:121517351-121517351
22 FGFR2 NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly) SNV Pathogenic
Pathogenic
Pathogenic
374818 rs121918488 GRCh37: 10:123276893-123276893
GRCh38: 10:121517379-121517379
23 FGFR2 NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) SNV Pathogenic
265431 rs776587763 GRCh37: 10:123279599-123279599
GRCh38: 10:121520085-121520085
24 FGFR2 NM_000141.5(FGFR2):c.940-2A>G SNV Pathogenic
374814 rs1057519041 GRCh37: 10:123276979-123276979
GRCh38: 10:121517465-121517465
25 FGFR2 NM_000141.5(FGFR2):c.1084+3A>G SNV Pathogenic
Likely Pathogenic
13299 rs879253721 GRCh37: 10:123276830-123276830
GRCh38: 10:121517316-121517316
26 FGFR2 NM_000141.5(FGFR2):c.940-1G>A SNV Pathogenic
13291 rs879253719 GRCh37: 10:123276978-123276978
GRCh38: 10:121517464-121517464
27 FGFR2 NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) SNV Pathogenic
13290 rs121918505 GRCh37: 10:123279633-123279633
GRCh38: 10:121520119-121520119
28 FGFR2 NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro) SNV Pathogenic
13274 rs121918495 GRCh37: 10:123276896-123276896
GRCh38: 10:121517382-121517382
29 FGFR1 NM_023110.3(FGFR1):c.979_983del (p.His327fs) DEL Pathogenic
1074220 GRCh37: 8:38279413-38279417
GRCh38: 8:38421895-38421899
30 FGFR1 NM_023110.3(FGFR1):c.1512del (p.Lys504fs) DEL Pathogenic
862263 rs1817280576 GRCh37: 8:38275428-38275428
GRCh38: 8:38417910-38417910
31 overlap with 23 genes NC_000008.10:g.(?_37595441)_(38961219_?)del DEL Pathogenic
1455925 GRCh37: 8:37595441-38961219
GRCh38:
32 FGFR2 NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) SNV Pathogenic
13271 rs121918494 GRCh37: 10:123276877-123276877
GRCh38: 10:121517363-121517363
33 FGFR2 NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) SNV Pathogenic/Likely Pathogenic
Likely Pathogenic
13294 rs121918506 GRCh37: 10:123256215-123256215
GRCh38: 10:121496701-121496701
34 FGFR1 NM_023110.3(FGFR1):c.448+1G>A SNV Likely Pathogenic
654366 rs376416531 GRCh37: 8:38285863-38285863
GRCh38: 8:38428345-38428345
35 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) SNV Likely Pathogenic
374817 rs1057519044 GRCh37: 10:123276904-123276904
GRCh38: 10:121517390-121517390
36 FGFR1 NM_023110.3(FGFR1):c.448+1G>C SNV Likely Pathogenic
1197448 GRCh37: 8:38285863-38285863
GRCh38: 8:38428345-38428345
37 FGFR2 NM_000141.5(FGFR2):c.833_834delinsTA (p.Cys278Leu) INDEL Likely Pathogenic
374810 rs1057519037 GRCh37: 10:123279598-123279599
GRCh38: 10:121520084-121520085
38 FGFR2 NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg) SNV Likely Pathogenic
374824 rs1057519047 GRCh37: 10:123247569-123247569
GRCh38: 10:121488055-121488055
39 FGFR1 NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) SNV Likely Pathogenic
431966 rs1554570706 GRCh37: 8:38287326-38287326
GRCh38: 8:38429808-38429808
40 FGFR1 NM_023110.3(FGFR1):c.622-2A>G SNV Likely Pathogenic
1478581 GRCh37: 8:38283765-38283765
GRCh38: 8:38426247-38426247
41 FGFR1 NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly) SNV Likely Pathogenic
949809 rs1817052708 GRCh37: 8:38274895-38274895
GRCh38: 8:38417377-38417377
42 FGFR1 NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) SNV Likely Pathogenic
16299 rs121909641 GRCh37: 8:38277238-38277238
GRCh38: 8:38419720-38419720
43 FGFR1 NM_023110.3(FGFR1):c.1919C>T (p.Ala640Val) SNV Uncertain Significance
988298 rs1815800575 GRCh37: 8:38272355-38272355
GRCh38: 8:38414837-38414837
44 FGFR1 NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu) SNV Uncertain Significance
430508 rs145434725 GRCh37: 8:38314882-38314882
GRCh38: 8:38457364-38457364
45 FGFR1 NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys) SNV Uncertain Significance
242708 rs267606806 GRCh37: 8:38271684-38271684
GRCh38: 8:38414166-38414166
46 FGFR1 NM_023110.3(FGFR1):c.241A>G (p.Ile81Val) SNV Uncertain Significance
Uncertain Significance
1401312 GRCh37: 8:38287317-38287317
GRCh38: 8:38429799-38429799
47 FGFR1 NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) SNV Uncertain Significance
Uncertain Significance
Likely Benign
16289 rs121909633 GRCh37: 8:38282064-38282064
GRCh38: 8:38424546-38424546
48 FGFR1 NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) SNV Uncertain Significance
Likely Benign
362896 rs200776757 GRCh37: 8:38275808-38275808
GRCh38: 8:38418290-38418290
49 FGFR1 NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) SNV Uncertain Significance
1349091 GRCh37: 8:38271477-38271477
GRCh38: 8:38413959-38413959
50 FGFR1 NM_023110.3(FGFR1):c.1168A>G (p.Met390Val) SNV Uncertain Significance
1350807 GRCh37: 8:38277167-38277167
GRCh38: 8:38419649-38419649

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

73 (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 rs1554928884
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 rs1057519047
19 FGFR2 p.Gly663Glu VAR_017280

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 top 50) (show all 82)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.04 TWIST1 TNFRSF8 SH2D1A PTPN11 PLCG1 IL2RB
2
Show member pathways
13.91 TNFRSF8 PLCG1 IL2RB FGFR3 FGFR2 FGFR1
3
Show member pathways
13.87 PTPN11 PLCG1 FGFR3 FGFR2 FGFR1 FGF8
4 13.86 PTPN11 PLCG1 NOG IL2RB FGFR3 FGFR2
5
Show member pathways
13.76 AKT1 FGF10 FGF2 FGF7 FGF8 FGFR1
6
Show member pathways
13.66 TNFRSF8 IL2RB FGFR3 FGFR2 FGFR1 CD40LG
7
Show member pathways
13.63 PLCG1 FGFR3 FGFR2 FGFR1 FGF8 FGF7
8
Show member pathways
13.62 PTPN11 IL2RB FGFR3 FGFR2 FGFR1 FGF8
9
Show member pathways
13.55 PTPN11 PLCG1 IL2RB FGFR3 FGFR2 FGFR1
10
Show member pathways
13.48 AKT1 FGF10 FGF2 FGF7 FGF8 FGFR1
11
Show member pathways
13.42 PLCG1 FGFR3 FGFR2 FGFR1 FGF8 FGF7
12
Show member pathways
13.39 AKT1 CD40LG FGF2 IL2RB PLCG1 PTPN11
13
Show member pathways
13.38 PLCG1 FGFR3 FGFR2 FGFR1 FGF8 FGF7
14
Show member pathways
13.33 TNFRSF8 PLCG1 IL2RB FGFR3 FGFR2 FGFR1
15
Show member pathways
13.19 PLCG1 FGFR3 FGFR2 FGFR1 FGF8 FGF7
16
Show member pathways
13.17 AKT1 FGF10 FGF2 FGF7 FGF8 FGFR1
17
Show member pathways
13.16 PTPN11 PLCG1 FGFR3 FGFR2 FGFR1 FGF8
18
Show member pathways
13.06 IL2RB FGFR3 FGFR2 FGFR1 FGF8 FGF7
19
Show member pathways
13.01 FGF10 FGF2 FGF7 FGF8 FGFR1 FGFR2
20
Show member pathways
12.89 PLCG1 FGFR3 FGFR2 FGFR1 AKT1
21
Show member pathways
12.87 TNFRSF8 PTPN11 PLCG1 IL2RB FGFR3 FGFR2
22
Show member pathways
12.83 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
23 12.82 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF2
24 12.82 AKT1 FGF10 FGF2 FGF7 FGF8 FGFR1
25
Show member pathways
12.8 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF2
26
Show member pathways
12.79 PLCG1 FGFR3 FGFR2 FGFR1 FGF2 AKT1
27
Show member pathways
12.75 AKT1 FGF10 FGF2 FGF7 FGF8 FGFR1
28
Show member pathways
12.68 PTPN11 IL2RB FGFR3 FGFR2 FGFR1 FGF8
29 12.64 TNFRSF8 SH2D1A IL2RB CD8A CD40LG
30
Show member pathways
12.61 PTPN11 PLCG1 FGFR3 FGFR2 FGFR1 FGF8
31
Show member pathways
12.52 PLCG1 FGFR3 FGFR2 FGFR1 FGF8 FGF7
32
Show member pathways
12.5 NOG FGFR2 FGF2 AKT1
33
Show member pathways
12.5 FGF10 FGF2 FGF7 FGF8 FGFR1 FGFR2
34 12.5 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF2
35
Show member pathways
12.47 FGFR3 FGFR2 FGFR1 AKT1
36
Show member pathways
12.43 AKT1 CD8A PLCG1 PTPN11
37
Show member pathways
12.41 PTPN11 PLCG1 FGFR1 FGF2 AKT1
38 12.4 PTPN11 PLCG1 FGFR3 FGFR2 FGFR1 AKT1
39
Show member pathways
12.38 PTPN11 PLCG1 CR2 AKT1
40
Show member pathways
12.37 PLCG1 FGFR3 FGFR2 FGFR1 FGF2 AKT1
41
Show member pathways
12.34 PLCG1 IL2RB FGFR3 FGFR2 FGFR1 AKT1
42
Show member pathways
12.32 PLCG1 IL2RB CD40LG AKT1
43
Show member pathways
12.29 PTPN11 NOG FGFR3 FGFR2 FGFR1 FGF8
44 12.28 SH2D1A IL2RB FGFR3 FGFR2 FGFR1 FGF2
45 12.27 FGF10 FGF2 FGF7 FGF8 FGFR1 FGFR2
46
Show member pathways
12.22 PLCG1 CD8A CD40LG AKT1
47
Show member pathways
12.19 FGF10 FGF2 FGF7 FGF8 FGFR1 FGFR2
48 12.17 FGFR3 FGFR2 FGFR1 AKT1
49 12.15 NOG FGF7 FGF2 FGF10
50 12.15 FGF10 FGF8 FGFR1 FGFR2

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 plasma membrane GO:0005887 9.98 IL2RB FGFR3 FGFR2 FGFR1 CD8A CD40LG
2 plasma membrane GO:0005886 9.98 IL2RB FGFR3 FGFR2 FGFR1 CD8A CD40LG
3 receptor complex GO:0043235 9.32 FGFR3 FGFR2 FGFR1 CR2 CD8A

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

(show top 50) (show all 55)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.6 AKT1 CCR6 CD40LG FGF2 FGF7 FGF8
2 cell differentiation GO:0030154 10.48 TWIST1 NOG FGF8 FGF7 FGF2 FGF10
3 positive regulation of gene expression GO:0010628 10.43 AKT1 FGF10 FGF2 FGF7 FGF8 NOG
4 positive regulation of protein phosphorylation GO:0001934 10.36 AKT1 FGF10 FGF2 FGF7 FGF8
5 positive regulation of cell population proliferation GO:0008284 10.36 AKT1 FGF10 FGF2 FGF7 FGF8 FGFR1
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10.3 FGFR3 FGFR2 FGFR1 CD8A
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.29 PTPN11 FGFR3 FGFR2 FGF8 FGF2 FGF10
8 osteoblast differentiation GO:0001649 10.28 TWIST1 NOG FGF2 AKT1
9 positive regulation of MAPK cascade GO:0043410 10.27 FGFR3 FGFR2 FGFR1 FGF2 FGF10
10 animal organ morphogenesis GO:0009887 10.26 FGF10 FGF2 FGF7 FGF8 FGFR2
11 wound healing GO:0042060 10.25 FGF10 FGF2 FGFR2 NOG
12 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 10.24 PTPN11 FGF8 FGF7 FGF10
13 epithelial to mesenchymal transition GO:0001837 10.19 NOG FGFR2 FGFR1
14 positive regulation of endothelial cell proliferation GO:0001938 10.19 FGF7 FGF2 FGF10 AKT1
15 epidermal growth factor receptor signaling pathway GO:0007173 10.18 AKT1 PLCG1 PTPN11
16 positive chemotaxis GO:0050918 10.18 FGF7 FGF2 FGF10
17 cellular response to epidermal growth factor stimulus GO:0071364 10.18 AKT1 PLCG1 PTPN11
18 regulation of cell migration GO:0030334 10.18 FGF8 FGF7 FGF2 FGF10 AKT1
19 positive regulation of stem cell proliferation GO:2000648 10.17 FGF8 FGF2 FGF10
20 T cell costimulation GO:0031295 10.16 PTPN11 CD40LG AKT1
21 odontogenesis GO:0042476 10.15 TWIST1 FGFR2 FGF8
22 hair follicle morphogenesis GO:0031069 10.14 FGFR2 FGF7 FGF10
23 positive regulation of cell division GO:0051781 10.14 FGFR2 FGF8 FGF7 FGF2
24 cell population proliferation GO:0008283 10.11 AKT1 FGF10 FGF2 FGF8 NOG
25 endothelial cell proliferation GO:0001935 10.1 FGF7 FGF2 FGF10
26 positive regulation of vascular endothelial cell proliferation GO:1905564 10.1 PLCG1 FGFR1 FGF2
27 positive regulation of blood vessel endothelial cell migration GO:0043536 10.1 AKT1 FGF2 FGFR1 PLCG1
28 bud elongation involved in lung branching GO:0060449 10.02 FGFR2 FGF10
29 lacrimal gland development GO:0032808 10.02 FGFR2 FGF10
30 epithelial cell proliferation GO:0050673 10.02 NOG FGF7 FGF2 FGF10
31 stem cell differentiation GO:0048863 10.01 TWIST1 NOG FGF2
32 thyroid-stimulating hormone-secreting cell differentiation GO:0060129 10.01 FGF8 FGF2
33 lung development GO:0030324 10.01 FGFR2 FGF8 FGF7 FGF2 FGF10
34 organ induction GO:0001759 10 FGF10 FGF2 FGF8
35 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.99 FGFR2 FGF10
36 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.99 FGFR2 FGF7
37 prostatic bud formation GO:0060513 9.98 FGF10 NOG
38 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.97 FGFR1 FGF2
39 neural plate morphogenesis GO:0001839 9.97 NOG FGF8
40 lung morphogenesis GO:0060425 9.97 NOG FGF8 FGF10
41 secretion by lung epithelial cell involved in lung growth GO:0061033 9.96 FGF7 FGF10
42 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling GO:0060665 9.96 FGF7 FGF10
43 corticotropin hormone secreting cell differentiation GO:0060128 9.95 FGF8 FGF2
44 fibroblast growth factor receptor signaling pathway involved in mammary gland specification GO:0060595 9.92 FGF10 FGFR2
45 mammary gland bud formation GO:0060615 9.91 FGF10 FGFR2
46 branch elongation involved in salivary gland morphogenesis GO:0060667 9.91 FGF10 FGFR2
47 positive regulation of phospholipase activity GO:0010518 9.91 FGFR3 FGFR2 FGFR1
48 mesenchymal cell differentiation involved in lung development GO:0060915 9.9 FGF10 FGFR2
49 epidermis morphogenesis GO:0048730 9.89 FGFR2 FGF10
50 organ growth GO:0035265 9.87 PTPN11 FGFR2 FGF8 FGF10

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.96 FGF10 FGF2 FGF7 FGFR1 FGFR2
2 chemoattractant activity GO:0042056 9.85 FGF7 FGF2 FGF10
3 fibroblast growth factor binding GO:0017134 9.8 FGFR3 FGFR2 FGFR1
4 receptor-receptor interaction GO:0090722 9.71 FGFR1 FGF2
5 type 2 fibroblast growth factor receptor binding GO:0005111 9.63 FGF8 FGF7 FGF10
6 fibroblast growth factor receptor activity GO:0005007 9.43 FGFR3 FGFR2 FGFR1
7 fibroblast growth factor receptor binding GO:0005104 9.23 FGF8 FGF7 FGF2 FGF10

Sources for Pfeiffer Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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