PS
MCID: PFF001
MIFTS: 77

Pfeiffer Syndrome (PS)

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

Aliases & Classifications for Pfeiffer Syndrome

MalaCards integrated aliases for Pfeiffer Syndrome:

Name: Pfeiffer Syndrome 57 40 12 73 20 43 58 72 36 29 13 54 6 15 70
Infectious Mononucleosis 40 12 54 42 44 15 17 70 32
Craniofacial-Skeletal-Dermatologic Dysplasia 57 20 43 29 6
Acs5 57 20 43 58 72
Acrocephalosyndactyly Type 5 20 58 72
Noack Syndrome 57 20 43
Acs V 57 43 72
Pfeiffer Type Acrocephalosyndactyly 20 70
Gammaherpesviral Mononucleosis 12 32
Acrocephalosyndactyly, Type V 57 43
Pfeiffer Syndrome, Type Iii 29 6
Pfeiffer Syndrome Type 2 58 29
Dysplasia, Craniofacial-Skeletal-Dermatologic 39
Craniofacial-Skeletal-Dermatologic Syndrome 20
Acrocephalosyndactyly, Type V; Acs5 57
Acrocephalosyndactylia Type V 12
Acrocephalosyndactyly, Type 5 20
Classic Pfeiffer Syndrome 58
Pfeiffer Syndrome Variant 6
Pfeiffer Syndrome Type 3 58
Pfeiffer Syndrome Type 1 58
Pfeiffer's Disease 12
Syndrome, Pfeiffer 39
Filatov's Disease 12
Monocytic Angina 12
Glandular Fever 12
Mononucleosis 12
Pfeiffer 17
Acsv 20
Ps 72

Characteristics:

Orphanet epidemiological data:

58
pfeiffer syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;
pfeiffer syndrome type 3
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;
pfeiffer syndrome type 2
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;
pfeiffer syndrome type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
pfeiffer syndrome:
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Pfeiffer Syndrome

MedlinePlus Genetics : 43 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 fgfr craniosynostosis syndromes and hypertelorism, 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 rituximab and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skull, spleen and liver, and related phenotypes are ptosis and high palate

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.

GARD : 20 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.

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 05-Apr-2021)

MedlinePlus : 42 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.

KEGG : 36 Pfeiffer syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, brachycephaly, midface hypoplasia, and broad and deviated thumbs and great toes. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three subtypes. Type 1 involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities. It is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Mutations of the FGFR1 gene or FGFR2 gene can cause Pfeiffer syndrome.

UniProtKB/Swiss-Prot : 72 Pfeiffer syndrome: A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).

Wikipedia : 73 Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of... 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 664)
# Related Disease Score Top Affiliating Genes
1 fgfr craniosynostosis syndromes 31.2 FGFR3 FGFR2 FGFR1
2 hypertelorism 31.2 TWIST1 FGFR2 COL1A1
3 craniosynostosis 31.1 TWIST1 RUNX2 NOG GLI3 FGFR3 FGFR2
4 chromosome 2q35 duplication syndrome 31.0 TWIST1 NOG GLI3 FGFR3 FGFR2 FGFR1
5 syndromic craniosynostosis 31.0 TWIST1 RUNX2 FGFR3 FGFR2 FGFR1 ERF
6 ankylosis 30.9 SP7 RUNX2 NOG FGFR2 FGFR1 BGLAP
7 antley-bixler syndrome 30.9 FGFR3 FGFR2 FGFR1
8 agammaglobulinemia 30.8 SH2D1A CR2 CD40LG
9 kallmann syndrome 30.8 GLI3 FGFR3 FGFR2 FGFR1 FGF8
10 synostosis 30.8 TWIST1 RUNX2 NOG GLI3 FGFR3 FGFR2
11 craniosynostosis 1 30.7 TWIST1 FGFR3 FGFR2 ERF
12 crouzon syndrome 30.6 TWIST1 RUNX2 FGFR3 FGFR2 FGFR1 FGF8
13 reticulum cell sarcoma 30.6 TNFRSF8 CR2
14 achondroplasia 30.6 FGFR3 FGFR2 FGFR1 COL1A1 BGLAP
15 apert syndrome 30.5 TWIST1 RUNX2 GLI3 FGFR3 FGFR2 FGFR1
16 saethre-chotzen syndrome 30.5 TWIST1 RUNX2 FGFR3 FGFR2 FGFR1 BGLAP
17 radioulnar synostosis 30.4 TWIST1 FGFR3 FGFR2 FGFR1
18 hartsfield syndrome 30.4 FGFR1 FGF8
19 hypophosphatemia 30.4 FGFR1 FGF7 BGLAP ALPL
20 anus, imperforate 30.3 GLI3 FGF8 FGF10
21 muenke syndrome 30.3 TWIST1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
22 jackson-weiss syndrome 30.3 FGFR3 FGFR2 FGFR1 FGF8 FGF10
23 marginal zone b-cell lymphoma 30.3 TNFRSF8 CR2 CD40LG
24 cryptorchidism, unilateral or bilateral 30.2 PTPN11 GLI3 FGFR1 FGF8
25 dysostosis 30.1 TWIST1 RUNX2 NOG GLI3 FGFR3 FGFR2
26 bone disease 30.0 SP7 RUNX2 NOG FGFR3 FGFR2 FGFR1
27 odontochondrodysplasia 30.0 SP7 RUNX2 PTPN11 FGFR3 FGFR2 FGFR1
28 holoprosencephaly 29.9 TWIST1 NOG GLI3 FGFR3 FGFR2 FGFR1
29 cleft palate, isolated 29.9 TWIST1 SP7 RUNX2 NOG GLI3 FGFR3
30 lymphoproliferative syndrome, x-linked, 1 11.6
31 pfeiffer-palm-teller syndrome 11.4
32 mesomelia-synostoses syndrome 11.3
33 human cytomegalovirus infection 11.3
34 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 11.2
35 post-transplant lymphoproliferative disease 11.1
36 cytomegalic inclusion disease 11.1
37 nodular nonsuppurative panniculitis 11.1
38 pfeiffer kapferer syndrome 11.1
39 pfeiffer rockelein syndrome 11.1
40 pfeiffer tietze welte syndrome 11.1
41 salivary gland disease 11.1
42 neurological consequences of cytomegalovirus infection 11.1
43 pfeiffer mayer syndrome 11.1
44 preaxial polydactyly-colobomata-intellectual disability syndrome 11.0
45 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 11.0
46 ulna and fibula, hypoplasia of 11.0
47 pituitary hormone deficiency, combined, 3 11.0
48 kleeblattschaedel 11.0
49 langer mesomelic dysplasia 10.9
50 lymphoproliferative syndrome, x-linked, 2 10.9

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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

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

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

Head And Neck Mouth:
high-arched palate

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 Face:
maxillary hypoplasia
mandibular prognathism

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

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

Skeletal Feet:
broad great toe

Clinical features from OMIM®:

101600 (Updated 05-Apr-2021)

UMLS symptoms related to Pfeiffer Syndrome:


fever; pruritus

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.1 FGFR1 FGFR3
2 Decreased viability GR00221-A-2 10.1 FGFR1 FGFR3
3 Decreased viability GR00221-A-3 10.1 FGFR3
4 Decreased viability GR00240-S-1 10.1 CD40LG SP7
5 Decreased viability GR00249-S 10.1 ALPL FGF10 FGF7 FGFR2 FGFR3 RUNX2
6 Decreased viability GR00301-A 10.1 FGFR2
7 Decreased viability GR00342-S-1 10.1 FGFR2
8 Decreased viability GR00342-S-2 10.1 FGFR2
9 Decreased viability GR00342-S-3 10.1 FGFR2
10 Decreased viability GR00386-A-1 10.1 ALPL FGF10 FGF7 FGFR1 NOG RUNX2
11 Decreased viability GR00402-S-2 10.1 SP7 TNFRSF8 TWIST1
12 Increased the percentage of infected cells GR00402-S-1 8.32 FGF8

MGI Mouse Phenotypes related to Pfeiffer Syndrome:

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.53 ALPL BGLAP CD40LG COL1A1 ERF FGF10
2 homeostasis/metabolism MP:0005376 10.49 ALPL BGLAP CD40LG COL1A1 CR2 ERF
3 hematopoietic system MP:0005397 10.45 ALPL BGLAP CD40LG COL1A1 CR2 ERF
4 cardiovascular system MP:0005385 10.42 ALPL CD40LG COL1A1 ERF FGF10 FGF8
5 craniofacial MP:0005382 10.41 ALPL COL1A1 ERF FGF10 FGF8 FGFR1
6 growth/size/body region MP:0005378 10.41 ALPL COL1A1 ERF FGF10 FGF7 FGF8
7 immune system MP:0005387 10.4 ALPL BGLAP CD40LG COL1A1 CR2 FGF10
8 endocrine/exocrine gland MP:0005379 10.39 ALPL BGLAP CD40LG COL1A1 FGF10 FGF8
9 mortality/aging MP:0010768 10.38 ALPL CD40LG COL1A1 CR2 ERF FGF10
10 digestive/alimentary MP:0005381 10.37 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
11 limbs/digits/tail MP:0005371 10.34 ALPL COL1A1 ERF FGF10 FGF8 FGFR1
12 embryo MP:0005380 10.32 ALPL COL1A1 ERF FGF10 FGF8 FGFR1
13 nervous system MP:0003631 10.31 ALPL CD40LG COL1A1 ERF FGF10 FGF7
14 integument MP:0010771 10.25 CD40LG COL1A1 FGF10 FGF7 FGFR1 FGFR2
15 hearing/vestibular/ear MP:0005377 10.21 COL1A1 FGF10 FGF8 FGFR1 FGFR2 FGFR3
16 muscle MP:0005369 10.16 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
17 reproductive system MP:0005389 10.13 ALPL BGLAP CD40LG COL1A1 ERF FGF10
18 normal MP:0002873 10.11 COL1A1 ERF FGF10 FGF8 FGFR1 FGFR2
19 renal/urinary system MP:0005367 10.1 CD40LG COL1A1 CR2 ERF FGF10 FGF7
20 no phenotypic analysis MP:0003012 9.95 COL1A1 FGFR1 FGFR2 FGFR3 GLI3 PTPN11
21 respiratory system MP:0005388 9.9 ALPL COL1A1 FGF10 FGF8 FGFR2 FGFR3
22 skeleton MP:0005390 9.89 ALPL BGLAP CD40LG COL1A1 ERF FGF10
23 vision/eye MP:0005391 9.36 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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 2 174722-31-7 10201696
2 Anti-Infective Agents Phase 1, Phase 2
3 Antiviral Agents Phase 1, Phase 2
4 valacyclovir Phase 1, Phase 2
5 Antineoplastic Agents, Immunological Phase 2
6 Antirheumatic Agents Phase 2
7 Immunologic Factors Phase 2
8 Alkylating Agents Phase 2
9 Bendamustine Hydrochloride Phase 2
10 Immunoglobulins Phase 1
11 Antibodies Phase 1
12 Vaccines Phase 1
13 Antibodies, Blocking Phase 1

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Acupuncture for Infectious Mononucleosis Trial Completed 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. Not yet recruiting NCT04138875 Phase 2 Rituximab;Brentuximab Vedotin;Bendamustine
5 A Two Part, Randomized Clinical Trial to Study Biomarkers of MK-8237 (SCH 900237) Treatment in Subjects With House Dust Mite Induced Allergic Rhinitis or Rhinoconjunctivitis Completed NCT01852825 Phase 1
6 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
7 Comparison of Abbott Architect®, Siemens Immulite®, and Diasorin Liaison® for Determination of Epstein-Barr Virus Serological Diagnosis Completed NCT03650231
8 Neuroactive Steroids in Acute Ischemic Stroke: Association With Cognitive, Functional and Neurological Outcomes. Completed NCT02914106
9 The Effect of Telerahabilitation on Fine Motor Skills and Writing Performance in Children With Attention Deficit and Hyperactivity Disorder: A Randomized Controlled Study Recruiting NCT04697771
10 Mikrobiologi Ved svær Akut Tonsillit, peritonsillær Phlegmone og infektiøs Mononukleose Not yet recruiting NCT02715037
11 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 29 FGFR1 FGFR2
2 Pfeiffer Syndrome, Type Iii 29
3 Pfeiffer Syndrome Type 2 29
4 Craniofacial-Skeletal-Dermatologic Dysplasia 29

Anatomical Context for Pfeiffer Syndrome

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

19
Skull

MalaCards organs/tissues related to Pfeiffer Syndrome:

40
Spleen, Liver, T Cells, Eye, B Cells, Bone, Skin

Publications for Pfeiffer Syndrome

Articles related to Pfeiffer Syndrome:

(show top 50) (show all 6418)
# 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. 61 54 6 57
9475591 1998
2
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. 54 57 6 61
9150725 1997
3
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 61 54 6 57
7795583 1995
4
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 54 61 6 57
7719345 1995
5
FGFR2 mutations in Pfeiffer syndrome. 6 57 54 61
7719333 1995
6
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. 61 54 57 6
7874169 1994
7
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. 6 57 61
15996217 2005
8
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. 57 6 61
14564217 2003
9
Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2. 57 6 61
12400058 2002
10
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 6 57 61
8434615 1993
11
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 6 57
8528214 1995
12
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. 61 6 54
16957473 2006
13
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. 54 61 6
15523615 2004
14
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. 6 61 54
15282208 2004
15
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. 6 54 61
14613973 2004
16
Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. 6 61 54
11807866 2002
17
A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. 54 6 61
10942429 2000
18
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. 54 6 61
10945669 2000
19
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 61 57 54
10712195 2000
20
Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2. 54 6 61
10731087 1999
21
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 54 6 61
10394936 1999
22
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. 54 61 6
9714439 1998
23
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. 61 54 57
8644708 1996
24
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 61 6
25251565 2014
25
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 6 61
24127277 2013
26
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population. 61 6
24497711 2013
27
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 6 61
10861678 2000
28
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 61 6
10406670 1999
29
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. 61 6
9973282 1999
30
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children. 54 6
9586546 1998
31
Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification. 61 57
9475589 1998
32
Pfeiffer syndrome type 2: further delineation and review of the literature. 61 57
9475590 1998
33
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 6 61
9002682 1997
34
Type 3 Pfeiffer syndrome with normal thumbs. 6 61
8958319 1996
35
Audiologic and otologic characteristics of Pfeiffer syndrome. 61 57
8939381 1996
36
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. 57 61
8841188 1996
37
Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. 57 61
7881412 1994
38
Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child. 57 61
1472357 1992
39
Congenital tracheal stenosis in Pfeiffer syndrome. 61 57
2208766 1990
40
Mild expression of the Pfeiffer syndrome. 57 61
3342547 1988
41
Cloverleaf skull associated with Pfeiffer syndrome: pathology and management. 61 57
3792393 1986
42
The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. 57 61
856510 1977
43
Pfeiffer syndrome: report of a family and review of the literature. 61 57
957376 1976
44
Familial acrocephalosyndactyly (Pfeiffer syndrome). 61 57
4641185 1972
45
Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes. 61 57
5551881 1971
46
Clinical warning of hemophagocytic syndrome caused by Epstein-Barr virus. 61 42
33413556 2021
47
TLR4 896A/G and TLR9 1174G/A polymorphisms are associated with the risk of infectious mononucleosis. 42 61
32753695 2020
48
Genotypes of Epstein-Barr virus (EBV1/EBV2) in individuals with infectious mononucleosis in the metropolitan area of Belém, Brazil, between 2005 and 2016. 61 42
32619403 2020
49
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 6
28754744 2017
50
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 6
27502037 2016

Variations for Pfeiffer Syndrome

ClinVar genetic disease variations for Pfeiffer Syndrome:

6 (show top 50) (show all 102)
# 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.1021A>C (p.Thr341Pro) SNV Pathogenic 13274 rs121918495 GRCh37: 10:123276896-123276896
GRCh38: 10:121517382-121517382
3 FGFR2 NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys) SNV Pathogenic 13281 rs121918499 GRCh37: 10:123279562-123279562
GRCh38: 10:121520048-121520048
4 FGFR2 NM_000141.5(FGFR2):c.818_820del (p.Asp273del) Deletion Pathogenic 13288 rs121918503 GRCh37: 10:123279612-123279614
GRCh38: 10:121520098-121520100
5 FGFR2 NM_022970.3(FGFR2):c.1087+1218G>A SNV Pathogenic 13291 rs879253719 GRCh37: 10:123276978-123276978
GRCh38: 10:121517464-121517464
6 FGFR2 NM_022970.3(FGFR2):c.1087+1216_1087+1225delinsACC Indel Pathogenic 13292 rs1589828632 GRCh37: 10:123276971-123276980
GRCh38: 10:121517457-121517466
7 FGFR2 NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala) SNV Pathogenic 13300 rs121918510 GRCh37: 10:123276955-123276955
GRCh38: 10:121517441-121517441
8 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) SNV Pathogenic 478046 rs1554927408 GRCh37: 10:123274768-123274768
GRCh38: 10:121515254-121515254
9 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic 13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
10 FGFR2 NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) SNV Pathogenic 449024 rs1434545235 GRCh37: 10:123325014-123325014
GRCh38: 10:121565500-121565500
11 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic 13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
12 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic 13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
13 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Pathogenic 13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
14 FGFR2 NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) SNV Pathogenic 13293 rs121918499 GRCh37: 10:123279562-123279562
GRCh38: 10:121520048-121520048
15 FGFR2 NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) SNV Pathogenic 13293 rs121918499 GRCh37: 10:123279562-123279562
GRCh38: 10:121520048-121520048
16 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) SNV Pathogenic 13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
17 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic 13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
18 FGFR1 NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) SNV Pathogenic 16279 rs121909627 GRCh37: 8:38282208-38282208
GRCh38: 8:38424690-38424690
19 FGFR1 NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) SNV Pathogenic 16279 rs121909627 GRCh37: 8:38282208-38282208
GRCh38: 8:38424690-38424690
20 FGFR2 NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) SNV Pathogenic 13286 rs121918502 GRCh37: 10:123276865-123276865
GRCh38: 10:121517351-121517351
21 FGFR2 NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) SNV Pathogenic 265431 rs776587763 GRCh37: 10:123279599-123279599
GRCh38: 10:121520085-121520085
22 FGFR2 NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) SNV Pathogenic 13267 rs121918488 GRCh37: 10:123276893-123276893
GRCh38: 10:121517379-121517379
23 FGFR2 NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) SNV Pathogenic 13290 rs121918505 GRCh37: 10:123279633-123279633
GRCh38: 10:121520119-121520119
24 FGFR2 NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) SNV Pathogenic 13286 rs121918502 GRCh37: 10:123276865-123276865
GRCh38: 10:121517351-121517351
25 FGFR2 NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) SNV Pathogenic 13266 rs121918488 GRCh37: 10:123276893-123276893
GRCh38: 10:121517379-121517379
26 FGFR1 NM_023110.3(FGFR1):c.1512del (p.Lys504fs) Deletion Pathogenic 862263 GRCh37: 8:38275428-38275428
GRCh38: 8:38417910-38417910
27 FGFR1 NC_000008.11:g.(?_38424489)_(38461126_?)del Deletion Pathogenic 832441 GRCh37: 8:38282007-38318644
GRCh38:
28 FGFR1 NM_023110.2(FGFR1):c.1430+1G>A SNV Pathogenic 463529 rs1554552774 GRCh37: 8:38275745-38275745
GRCh38: 8:38418227-38418227
29 FGFR1 NM_023110.2(FGFR1):c.214C>T (p.Gln72Ter) SNV Pathogenic 502125 rs1554570813 GRCh37: 8:38287344-38287344
GRCh38: 8:38429826-38429826
30 FGFR2 NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) SNV Pathogenic 13276 rs121918497 GRCh37: 10:123279566-123279566
GRCh38: 10:121520052-121520052
31 FGFR2 NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly) SNV Pathogenic 374818 rs121918488 GRCh37: 10:123276893-123276893
GRCh38: 10:121517379-121517379
32 FGFR2 NM_022970.3(FGFR2):c.1087+1217A>G SNV Pathogenic 374814 rs1057519041 GRCh37: 10:123276979-123276979
GRCh38: 10:121517465-121517465
33 FGFR2 NM_000141.5(FGFR2):c.864_881del (p.Ile288_Val294delinsMet) Deletion Pathogenic 254237 rs886037837 GRCh37: 10:123279551-123279568
GRCh38: 10:121520037-121520054
34 FGFR2 NM_022970.3(FGFR2):c.1087+1366A>G SNV Pathogenic 13299 rs879253721 GRCh37: 10:123276830-123276830
GRCh38: 10:121517316-121517316
35 FGFR1 NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) SNV Likely pathogenic 16299 rs121909641 GRCh37: 8:38277238-38277238
GRCh38: 8:38419720-38419720
36 FGFR2 NM_000141.5(FGFR2):c.833_834delinsTA (p.Cys278Leu) Indel Likely pathogenic 374810 rs1057519037 GRCh37: 10:123279598-123279599
GRCh38: 10:121520084-121520085
37 FGFR2 NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) SNV Likely pathogenic 374823 rs121918506 GRCh37: 10:123256215-123256215
GRCh38: 10:121496701-121496701
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_023110.2(FGFR1):c.448+1G>A SNV Likely pathogenic 654366 rs376416531 GRCh37: 8:38285863-38285863
GRCh38: 8:38428345-38428345
40 FGFR1 NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly) SNV Likely pathogenic 949809 GRCh37: 8:38274895-38274895
GRCh38: 8:38417377-38417377
41 FGFR2 NM_022970.3(FGFR2):c.1087+1366A>G SNV Likely pathogenic 13299 rs879253721 GRCh37: 10:123276830-123276830
GRCh38: 10:121517316-121517316
42 FGFR1 NM_023110.2(FGFR1):c.232C>T (p.Arg78Cys) SNV Likely pathogenic 431966 rs1554570706 GRCh37: 8:38287326-38287326
GRCh38: 8:38429808-38429808
43 FGFR2 NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) SNV Likely pathogenic 13294 rs121918506 GRCh37: 10:123256215-123256215
GRCh38: 10:121496701-121496701
44 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) SNV Likely pathogenic 374817 rs1057519044 GRCh37: 10:123276904-123276904
GRCh38: 10:121517390-121517390
45 FGFR2 NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) SNV Uncertain significance 577711 rs199757302 GRCh37: 10:123276928-123276928
GRCh38: 10:121517414-121517414
46 FGFR1 NM_023110.2(FGFR1):c.91+6G>T SNV Uncertain significance 362910 rs886062921 GRCh37: 8:38314868-38314868
GRCh38: 8:38457350-38457350
47 FGFR1 NM_023110.3(FGFR1):c.746-5C>G SNV Uncertain significance 1045264 GRCh37: 8:38282222-38282222
GRCh38: 8:38424704-38424704
48 FGFR1 NM_023110.3(FGFR1):c.389A>T (p.Asp130Val) SNV Uncertain significance 1046858 GRCh37: 8:38285923-38285923
GRCh38: 8:38428405-38428405
49 FGFR1 NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) SNV Uncertain significance 1044770 GRCh37: 8:38285476-38285476
GRCh38: 8:38427958-38427958
50 FGFR1 NM_023110.3(FGFR1):c.1554G>A (p.Ser518=) SNV Uncertain significance 1044306 GRCh37: 8:38274933-38274933
GRCh38: 8:38417415-38417415

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

72 (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 rs155492888
15 FGFR2 p.Cys342Gly VAR_017270 rs121918488
16 FGFR2 p.Tyr375Cys VAR_017275 rs121913478
17 FGFR2 p.Glu565Gly VAR_017277 rs121918506
18 FGFR2 p.Lys641Arg VAR_017278 rs105751904
19 FGFR2 p.Gly663Glu VAR_017280

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 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.03 TWIST1 TNFRSF8 SH2D1A PTPN11 FGFR3 FGFR2
2
Show member pathways
13.82 TNFRSF8 FGFR3 FGFR2 FGFR1 FGF8 FGF7
3
Show member pathways
13.46 SH2D1A PTPN11 FGFR3 FGFR2 FGFR1 FGF8
4
Show member pathways
13.4 TNFRSF8 FGFR3 FGFR2 FGFR1 FGF8 FGF7
5
Show member pathways
13.31 TNFRSF8 PTPN11 FGFR3 FGFR2 FGFR1 FGF8
6
Show member pathways
13.3 TWIST1 TNFRSF8 PTPN11 FGFR3 FGFR2 FGFR1
7
Show member pathways
13.12 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
8
Show member pathways
13.08 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
9
Show member pathways
13.04 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
10
Show member pathways
13.01 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
11
Show member pathways
12.9 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
12 12.87 GLI3 FGFR3 FGFR2 FGFR1 FGF8 FGF7
13 12.79 SH2D1A FGFR3 FGFR2 FGFR1 FGF8 FGF7
14
Show member pathways
12.76 FGFR2 FGFR1 FGF8 FGF7 FGF10
15
Show member pathways
12.75 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
16
Show member pathways
12.73 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
17
Show member pathways
12.69 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
18
Show member pathways
12.68 FGFR2 FGFR1 FGF8 FGF7 FGF10
19 12.66 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
20
Show member pathways
12.49 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
21
Show member pathways
12.42 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
22
Show member pathways
12.42 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
23 12.39 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
24 12.3 TWIST1 PTPN11 FGFR1 COL1A1
25
Show member pathways
12.26 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
26
Show member pathways
12.23 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
27 12.13 SH2D1A FGFR3 FGFR2 FGFR1
28
Show member pathways
12.11 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
29
Show member pathways
12.08 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
30 11.92 TWIST1 FGFR3 FGFR2 FGFR1 FGF8
31 11.91 RUNX2 FGFR1 BGLAP
32 11.83 FGFR3 FGFR2 FGFR1
33 11.82 FGFR3 FGFR1 FGF8 FGF10
34
Show member pathways
11.79 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
35 11.77 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
36 11.71 FGFR3 FGFR2 FGFR1
37 11.58 RUNX2 GLI3 FGFR3 FGFR1 ALPL
38 11.54 TWIST1 RUNX2 BGLAP
39 11.53 NOG FGF8 FGF10
40 11.52 FGFR3 FGFR2 FGFR1 FGF7
41 11.51 PTPN11 FGF8 FGF10
42 11.5 RUNX2 COL1A1 BGLAP
43 11.5 FGFR3 FGFR2 FGFR1
44 11.48 RUNX2 PTPN11 BGLAP
45 11.42 RUNX2 COL1A1 BGLAP
46 11.33 RUNX2 PTPN11 FGFR2 FGFR1 BGLAP
47 11.08 SP7 RUNX2 NOG FGF8 FGF10 BGLAP
48 10.96 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
49 10.85 COL1A1 BGLAP
50 10.65 GLI3 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 cytoplasm GO:0005737 10.1 TNFRSF8 SP7 SH2D1A RUNX2 PTPN11 GLI3
2 extracellular space GO:0005615 9.76 NOG FGF8 FGF7 FGF10 COL1A1 CD40LG
3 extracellular region GO:0005576 9.36 NOG FGFR3 FGFR2 FGFR1 FGF8 FGF7
4 receptor complex GO:0043235 9.26 FGFR3 FGFR2 FGFR1 CR2

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

(show top 50) (show all 77)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.27 TWIST1 SP7 RUNX2 NOG GLI3 FGFR2
2 cell differentiation GO:0030154 10.24 TWIST1 RUNX2 NOG FGF8 FGF7 FGF10
3 positive regulation of gene expression GO:0010628 10.13 TWIST1 RUNX2 NOG FGF8 FGF7 FGF10
4 positive regulation of cell proliferation GO:0008284 10.11 RUNX2 FGFR3 FGFR2 FGFR1 FGF8 FGF7
5 cell-cell signaling GO:0007267 10.04 SH2D1A FGFR3 FGFR2 FGF10
6 in utero embryonic development GO:0001701 10.03 TWIST1 NOG GLI3 FGFR2
7 MAPK cascade GO:0000165 10.01 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
8 animal organ morphogenesis GO:0009887 10 FGFR2 FGF8 FGF7 FGF10
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 10 PTPN11 FGFR3 FGFR2 FGF8 FGF10
10 positive regulation of MAPK cascade GO:0043410 9.96 FGFR3 FGFR2 FGFR1 FGF10
11 ossification GO:0001503 9.94 TWIST1 RUNX2 COL1A1 BGLAP
12 regulation of cell migration GO:0030334 9.93 FGF8 FGF7 FGF10
13 positive regulation of tumor necrosis factor production GO:0032760 9.92 TWIST1 TNFRSF8 PTPN11
14 cellular response to mechanical stimulus GO:0071260 9.92 TNFRSF8 PTPN11 COL1A1
15 positive regulation of kinase activity GO:0033674 9.91 FGFR3 FGFR2 FGFR1
16 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.91 PTPN11 FGF8 FGF7 FGF10
17 inner ear morphogenesis GO:0042472 9.9 FGFR2 FGF8 FGF10
18 odontogenesis of dentin-containing tooth GO:0042475 9.89 RUNX2 GLI3 FGF10
19 embryonic digit morphogenesis GO:0042733 9.89 TWIST1 NOG GLI3
20 regulation of cell differentiation GO:0045595 9.89 RUNX2 GLI3 FGFR1
21 positive regulation of cell division GO:0051781 9.88 FGFR2 FGF8 FGF7
22 negative regulation of cell differentiation GO:0045596 9.88 TWIST1 NOG GLI3 FGF10
23 wound healing GO:0042060 9.88 NOG GLI3 FGFR2 FGF10 COL1A1
24 limb development GO:0060173 9.87 NOG GLI3 FGF10
25 positive chemotaxis GO:0050918 9.87 FGF8 FGF7 FGF10
26 bone mineralization GO:0030282 9.87 FGFR3 FGFR2 BGLAP
27 epithelial to mesenchymal transition GO:0001837 9.86 NOG FGFR2 FGFR1
28 bone development GO:0060348 9.86 TWIST1 FGFR2 FGF8 BGLAP
29 dorsal/ventral pattern formation GO:0009953 9.85 NOG GLI3 FGF8
30 embryonic cranial skeleton morphogenesis GO:0048701 9.84 TWIST1 RUNX2 FGFR2
31 metanephros development GO:0001656 9.84 GLI3 FGF8 FGF10
32 face morphogenesis GO:0060325 9.83 PTPN11 NOG COL1A1
33 lung development GO:0030324 9.83 GLI3 FGFR2 FGF8 FGF7 FGF10
34 hair follicle morphogenesis GO:0031069 9.82 FGFR2 FGF7 FGF10
35 skeletal system morphogenesis GO:0048705 9.81 RUNX2 FGFR2 FGFR1 COL1A1
36 positive regulation of protein kinase B signaling GO:0051897 9.8 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
37 limb morphogenesis GO:0035108 9.79 GLI3 FGF8 FGF10
38 lung morphogenesis GO:0060425 9.77 NOG FGF8 FGF10
39 positive regulation of epithelial cell proliferation GO:0050679 9.77 TWIST1 NOG FGFR2 FGF7 FGF10
40 embryonic digestive tract morphogenesis GO:0048557 9.76 GLI3 FGFR2 FGF10
41 odontogenesis GO:0042476 9.76 TWIST1 FGFR2 FGF8 BGLAP
42 regulation of osteoblast differentiation GO:0045667 9.75 RUNX2 FGFR2
43 positive regulation of keratinocyte proliferation GO:0010838 9.75 FGF7 FGF10
44 mesonephros development GO:0001823 9.75 FGF8 FGF10
45 positive regulation of keratinocyte migration GO:0051549 9.75 FGF7 FGF10
46 limb bud formation GO:0060174 9.74 FGFR2 FGF10
47 organ induction GO:0001759 9.74 FGF8 FGF10
48 mesenchymal cell differentiation GO:0048762 9.74 NOG FGFR2
49 embryonic neurocranium morphogenesis GO:0048702 9.74 GLI3 FGF8
50 endochondral bone growth GO:0003416 9.73 FGFR3 FGFR2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.41 TWIST1 TNFRSF8 SP7 SH2D1A RUNX2 PTPN11
2 heparin binding GO:0008201 9.67 FGFR2 FGFR1 FGF7 FGF10
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 FGFR3 FGFR2 FGFR1
4 chemoattractant activity GO:0042056 9.5 FGF8 FGF7 FGF10
5 fibroblast growth factor receptor binding GO:0005104 9.43 FGF8 FGF7 FGF10
6 fibroblast growth factor binding GO:0017134 9.33 FGFR3 FGFR2 FGFR1
7 type 2 fibroblast growth factor receptor binding GO:0005111 9.13 FGF8 FGF7 FGF10
8 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR3 FGFR2 FGFR1

Sources for Pfeiffer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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