PS
MCID: PFF001
MIFTS: 79

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 56 40 12 74 52 25 58 73 36 29 13 54 6 15 39 71
Infectious Mononucleosis 40 12 54 42 43 15 17 71 32
Acs5 56 52 25 58 73
Craniofacial-Skeletal-Dermatologic Dysplasia 56 52 25 6
Acrocephalosyndactyly Type 5 52 58 73
Noack Syndrome 56 52 25
Acs V 56 25 73
Pfeiffer Type Acrocephalosyndactyly 52 71
Gammaherpesviral Mononucleosis 12 32
Acrocephalosyndactyly, Type V 56 25
Pfeiffer Syndrome, Type Iii 29 6
Pfeiffer Syndrome Type 2 58 29
Dysplasia, Craniofacial-Skeletal-Dermatologic 39
Craniofacial-Skeletal-Dermatologic Syndrome 52
Acrocephalosyndactyly, Type V; Acs5 56
Acrocephalosyndactylia Type V 12
Acrocephalosyndactyly, Type 5 52
Classic Pfeiffer Syndrome 58
Pfeiffer Syndrome Variant 6
Pfeiffer Syndrome Type 3 58
Pfeiffer Syndrome Type 1 58
Pfeiffer's Disease 12
Filatov's Disease 12
Monocytic Angina 12
Glandular Fever 12
Mononucleosis 12
Pfeiffer 17
Acsv 52
Ps 73

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:

56
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
de novo mutation in most cases


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

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. 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 Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skull, testes and t cells, and related phenotypes are depressed nasal bridge and hypertelorism

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.

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 820)
# Related Disease Score Top Affiliating Genes
1 fgfr craniosynostosis syndromes 31.6 FGFR3 FGFR2 FGFR1
2 hypertelorism 31.4 TWIST1 PTPN11 FGFR2 COL1A1
3 lymphoma 31.3 TNFRSF8 SH2D1A PTPN11 FGFR1 CR2 CD40LG
4 craniosynostosis 31.3 TWIST1 RUNX2 NOG GLI3 FGFR3 FGFR2
5 chromosome 2q35 duplication syndrome 31.3 TWIST1 NOG GLI3 FGFR3 FGFR2 FGFR1
6 ankylosis 31.2 SP7 RUNX2 NOG FGFR2 FGFR1 BGLAP
7 syndromic craniosynostosis 31.1 TWIST1 RUNX2 FGFR3 FGFR2 FGFR1 ERF
8 hydrocephalus 31.0 TWIST1 FGFR3 FGFR2 FGFR1
9 choanal atresia, posterior 31.0 FGFR2 FGFR1 FGF8
10 crouzon syndrome 30.9 TWIST1 RUNX2 FGFR3 FGFR2 FGFR1 FGF8
11 achondroplasia 30.9 FGFR3 FGFR2 FGFR1 COL1A1 BGLAP
12 scoliosis 30.9 RUNX2 PTPN11 FGFR3 FGFR2 COL1A1 BGLAP
13 synostosis 30.9 TWIST1 RUNX2 NOG GLI3 FGFR3 FGFR2
14 apert syndrome 30.9 TWIST1 RUNX2 GLI3 FGFR3 FGFR2 FGFR1
15 jackson-weiss syndrome 30.9 FGFR3 FGFR2 FGFR1 FGF8 FGF10
16 saethre-chotzen syndrome 30.8 TWIST1 RUNX2 FGFR3 FGFR2 FGFR1 BGLAP
17 antley-bixler syndrome 30.8 FGFR3 FGFR2 FGFR1
18 muenke syndrome 30.8 TWIST1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
19 hartsfield syndrome 30.8 FGFR1 FGF8
20 reticulum cell sarcoma 30.8 TNFRSF8 CR2
21 radioulnar synostosis 30.7 TWIST1 FGFR3 FGFR2 FGFR1
22 brachydactyly 30.7 RUNX2 NOG FGFR3 ERF
23 lymphoma, non-hodgkin, familial 30.7 TNFRSF8 SH2D1A FGFR1 CR2 CD40LG
24 plagiocephaly 30.6 TWIST1 FGFR3 FGFR2 FGFR1
25 protein-losing enteropathy 30.6 PTPN11 FGFR3 CD40LG
26 hypophosphatemia 30.6 FGFR1 FGF7 BGLAP ALPL
27 marginal zone b-cell lymphoma 30.6 TNFRSF8 CR2 CD40LG
28 bone resorption disease 30.6 SP7 RUNX2 COL1A1 BGLAP
29 cryptorchidism, unilateral or bilateral 30.5 PTPN11 GLI3 FGFR1 FGF8
30 granulomatous hepatitis 30.4 CD40LG ALPL
31 holoprosencephaly 30.4 TWIST1 NOG GLI3 FGFR3 FGFR2 FGFR1
32 dysostosis 30.3 TWIST1 RUNX2 NOG GLI3 FGFR3 FGFR2
33 odontochondrodysplasia 30.3 SP7 RUNX2 PTPN11 FGFR3 FGFR2 FGFR1
34 bone disease 30.3 SP7 RUNX2 NOG FGFR3 FGFR2 FGFR1
35 cleft palate, isolated 30.1 TWIST1 SP7 RUNX2 NOG GLI3 FGFR3
36 autoimmune lymphoproliferative syndrome, type v 29.9 TNFRSF8 SH2D1A
37 pfeiffer-palm-teller syndrome 12.5
38 lymphoproliferative syndrome, x-linked, 1 12.3
39 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 12.2
40 pfeiffer kapferer syndrome 12.2
41 pfeiffer mayer syndrome 12.2
42 pfeiffer rockelein syndrome 12.2
43 pfeiffer tietze welte syndrome 12.2
44 mesomelia-synostoses syndrome 12.1
45 proteus syndrome 12.1
46 polydactyly, preaxial ii 11.8
47 cytomegalovirus infection 11.8
48 nodular nonsuppurative panniculitis 11.7
49 post-transplant lymphoproliferative disease 11.6
50 cytomegalic inclusion disease 11.6

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 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0005280
2 hypertelorism 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000316
3 short nose 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0003196
4 broad hallux phalanx 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0010059
5 broad thumb 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0011304
6 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
7 cloverleaf skull 58 31 occasional (7.5%) Very frequent (99-80%) HP:0002676
8 high palate 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000218
9 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
10 laryngomalacia 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001601
11 aqueductal stenosis 58 31 occasional (7.5%) Very frequent (99-80%),Frequent (79-30%),Occasional (29-5%) HP:0002410
12 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
13 proptosis 58 31 frequent (33%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0000520
14 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
15 high forehead 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000348
16 arnold-chiari malformation 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002308
17 short hallux 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0010109
18 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0011800
19 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001376
20 tracheomalacia 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0002779
21 stenosis of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000402
22 brachyturricephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000244
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 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
30 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
31 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
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 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000365
46 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
47 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
48 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
49 increased intracranial pressure 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002516
50 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
proptosis
shallow orbits
downslanting palpebral fissures

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

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

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

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

UMLS symptoms related to Pfeiffer Syndrome:


fever, pruritus

MGI Mouse Phenotypes related to Pfeiffer Syndrome:

45 (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 embryo MP:0005380 10.32 ALPL COL1A1 ERF FGF10 FGF8 FGFR1
12 limbs/digits/tail MP:0005371 10.31 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
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 top 50) (show all 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 3
2 Antibodies Phase 3
3 Immunoglobulins, Intravenous Phase 3
4 Immunoglobulin G Phase 3
5 Rho(D) Immune Globulin Phase 3
6 gamma-Globulins Phase 3
7
Lenograstim Approved, Investigational Phase 2 135968-09-1
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
9
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
10
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
11
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
12
Valganciclovir Approved, Investigational Phase 2 175865-60-8 64147
13
rituximab Approved Phase 2 174722-31-7 10201696
14 Antiemetics Phase 2
15 Gastrointestinal Agents Phase 2
16 Hormones Phase 2
17 Antineoplastic Agents, Hormonal Phase 2
18 Hormone Antagonists Phase 2
19 glucocorticoids Phase 2
20 Tubulin Modulators Phase 2
21 BB 1101 Phase 2
22 Anti-Inflammatory Agents Phase 2
23 Antimitotic Agents Phase 2
24 Antiviral Agents Phase 2
25 valacyclovir Phase 2
26 Anti-Infective Agents Phase 2
27 Alkylating Agents Phase 2
28 Antirheumatic Agents Phase 2
29 Antineoplastic Agents, Immunological Phase 2
30 Bendamustine Hydrochloride Phase 2
31
Ondansetron Approved Phase 1 99614-02-5 4595
32
Azacitidine Approved, Investigational Phase 1 320-67-2 9444
33
nivolumab Approved Phase 1 946414-94-4
34
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
35
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
36
Neomycin Approved, Vet_approved Phase 1 1404-04-2 8378
37 Emetics Phase 1
38 Antimetabolites Phase 1
39 BIRC5 protein, human Phase 1
40 Immunosuppressive Agents Phase 1
41 Pharmaceutical Solutions Phase 1
42
Ocrelizumab Approved, Investigational 637334-45-3
43
Remifentanil Approved 132875-61-7 60815
44
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
45
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
46 Psychotropic Drugs
47 Adrenergic beta-Antagonists
48 Anesthetics
49 Vitamins
50 Calciferol

Interventional clinical trials:

(show top 50) (show all 69)
# Name Status NCT ID Phase Drugs
1 Randomized, Placebo-controlled, Double Blind Study to Evaluate the Efficacy of 2LEBV® and 2LXFS® on Asthenia in Patients With an Epstein-Barr Virus Infection. Not yet recruiting NCT04308278 Phase 4 2LEBV® / 2LXFS®;Placebo
2 Acupuncture for Infectious Mononucleosis Trial Completed NCT00598988 Phase 2, Phase 3
3 Domiciliary Intervention by Occupational Therapy After Hospital Discharge, to Prevent Rehospitalization in Elderly: Randomized Clinical Trial Completed NCT02052401 Phase 3
4 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Active, not recruiting NCT01376778 Phase 3 CMV hyperimmune globulin
5 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
6 To Evaluate the Safety, Immunogenicity and Efficacy of GSK Biologicals’ EBV Vaccine (268664) in Healthy Seronegative Adolescents/Adults When Injected Intramuscularly According to a 0-1-5 Month Schedule in Belgium. Completed NCT00430534 Phase 2
7 Randomized Study Assessing the Antiviral Activity and Safety of Valacyclovir in Primary Infectious Mononucleosis Completed NCT00274404 Phase 1, Phase 2 valacyclovir
8 Double Blinded Placebo Controlled Study to Assess Clinical and Antiviral Activity of Valganciclovir (VAL) in Solid Organ Transplant Donors to Reduce Viral Transmission From Donor to Recipient Completed NCT01329185 Phase 2 Valganciclovir;Placebo
9 A Pilot Trial of an Accelerated Immunization Schedule With ALVAC-pp65 (vCP260) for Inducing CMV-Specific Immunity in Stem Cell Allotransplant Donors and Healthy Volunteers Completed NCT00353977 Phase 2
10 Phase II Study of Carboplatin and Docetaxel Followed by Epstein-Barr Virus Cytotoxic T Lymphocytes in Patients With Refractory/Relapsed EBV-positive Nasopharyngeal Carcinoma(CADEN) Completed NCT00953420 Phase 2 Docetaxel;Carboplatin;Dexamethasone
11 Restauration of EBV Control in SLE Phase 1-2 Trial Evaluating Adoptive Transfer of Autologous EBV- Specific Cytotoxic T Lymphocytes in SLE Treatment Active, not recruiting NCT02677688 Phase 1, Phase 2
12 ValGanciclovir Versus ValAcyclovir for Viral Prophylaxis in Kidney Transplantation Active, not recruiting NCT01972035 Phase 2 Valacyclovir;Valganciclovir
13 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
14 Chronic Fatigue Syndrome: Correction of Mitochondrial Dysfunction by Conditioning Exercise and Nutraceutical Therapy. Withdrawn NCT01471652 Phase 2 Nutraceutical supplements;Placebo
15 Intervention of Nutritional Education Addressed to Carers of Dependant Patients Unknown status NCT01360775 Phase 1
16 Administration of LMP1- and LMP2-Specific Cytotoxic T-Lymphocytes to Patients With EBV-Positive Nasopharyngeal Carcinoma Completed NCT00516087 Phase 1
17 Administration of Neomycin Resistance Gene Marked EBV Specific Cytotoxic T-Lymphocytes to Patients With Relapsed EBV-Positive Lymphoma Completed NCT00058617 Phase 1
18 Administration of EBV-Specific T-Lymphocytes to Patients With EBV-Positive Nasopharyngeal Carcinoma Completed NCT00609219 Phase 1
19 Most Closely HLA-Matched Allogeneic LMP1/2-Specific Cytotoxic T Lymphocytes for Treatment of Patients With Relapsed EBV-Associated Diseases Completed NCT01447056 Phase 1
20 Administration of LMP-Specific Cytotoxic T-Lymphocytes to Patients With Relapsed EBV-Positive Lymphoma (ALCI) / Previously Known as: Administration of Neomycin Resistance Gene Marked LMP2A-Specific Cytotoxic T-Lymphocytes to Patents With Relapsed EBV-Positive Lymphoma (ALASCAR) Completed NCT00062868 Phase 1
21 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
22 Administration of Rapidly Generated Multivirus-specific Cytotoxic T-Lymphocytes for the Prophylaxis and Treatment of EBV, CMV, and Adenovirus Infection Post Allogeneic Stem Cell Transplant (VIRAGE) Completed NCT01070797 Phase 1
23 Administration of Rapidly Generated EBV-Specific Cytotoxic T-Lymphocytes To Patients With EBV-Positive Lymphoma Recruiting NCT01555892 Phase 1
24 ADMINISTRATION OF MOST CLOSELY MATCHED THIRD PARTY RAPIDLY GENERATED LMP, BARF1 and EBNA1 SPECIFIC CYTOTOXIC T-LYMPHOCYTES TO PATIENTS WITH EBV-POSITIVE LYMPHOMA AND OTHER EBV-POSITIVE MALIGNANCIES Recruiting NCT02287311 Phase 1 Cyclophosphamide;Fludarabine
25 Administration of Tumor-Associated Antigen (TAA)-Specific Cytotoxic T-Lymphocytes to Patients With Active or Relapsed Hodgkin or Non-Hodgkin Lymphoma Recruiting NCT01333046 Phase 1
26 ADMINISTRATION OF LMP-SPECIFIC CYTOTOXIC T-LYMPHOCYTES TO PATIENTS WITH RELAPSED EBV-POSITIVE LYMPHOMA Active, not recruiting NCT01956084 Phase 1 LMP1/2 CTLs (Group A);LMP1/2 CTLs (Group B)
27 Phase I Study of the Administration of EBV CTLs Expressing CD30 Chimeric Receptors for Relapsed CD30+ Hodgkin's Lymphoma and CD30+ Non-Hodgkin's Lymphoma (CAR CD 30) Active, not recruiting NCT01192464 Phase 1 autologous CAR.CD30 EBV specific-CTLs
28 Administration of Peripheral Blood T-Cells and EBV Specific CTLs Transduced to Express GD-2 Specific Chimeric T Cell Receptors to Patients With Neuroblastoma Active, not recruiting NCT00085930 Phase 1
29 Phase I Study Of The Administration Of Peripheral Activated T-Cells and EBV Specific CTLs Expressing CD19 Chimeric Receptors For Advanced B-Cell Non-Hodgkin's Lymphoma And Chronic Lymphocytic Leukemia (ATECRAB) Active, not recruiting NCT00709033 Phase 1
30 Phase I Study Combining Nivolumab With Epstein Barr Virus Specific T Cells (EBVSTS) in Relapsed/Refractory EBV Positive Lymphoma Patients (PREVALE) Active, not recruiting NCT02973113 Phase 1
31 Administration Of TGF-beta Resistant Cytotoxic T-Lymphocytes to Patients With EBV-positive Nasopharyngeal Carcinoma (RESIST-NPC) Active, not recruiting NCT02065362 Phase 1
32 Administration of Autologous Neomycin Resistant Gene Marked EBV Specific Cytotoxic T-Lymphocytes as Therapy for Patients Receiving Autologous Bone Marrow Transplant for Relapsed EBV-Positive Lymphoma. Terminated NCT00058773 Phase 1 Infusion of EBV Specific Cytotoxic T-Lymphocytes
33 Administration of LMP1- and LMP2- Specific Cytotoxic T-Lymphocytes Following CD45 Antibody to Patients With Relapsed EBV-Positive Hodgkin's or Non-Hodgkin's Lymphoma or Chronic Active EBV Infection (ALDI) Terminated NCT00383097 Phase 1
34 Administration of LMP2a-Specific Cytotoxic T-Lymphocytes Following CD45 Antibody to Patients With Relapsed EBV-Positive Hodgkin's or Non-Hodgkin's Lymphoma Terminated NCT00082225 Phase 1
35 VALIDATION OF AN INTERVENTION EFFECTIVE IN GROUPS OF FAMILY CAREGIVERS OF DEPENDENT PATIENTS FOR THEIR APPLICATION IN CENTRES OF PRIMARY HEALTH CARE. Unknown status NCT01177696
36 HIV Indicator Diseases Across Europe Study Unknown status NCT01681706
37 Genetic Studies of the X-Linked Lymphoproliferative Disease Completed NCT00359411
38 Studies on Epstein-Barr Virus as a Possible Etiological Agent for Chronic Fatigue Syndrome Completed NCT00433355
39 Persistence of Epstein-Barr Virus in Vivo Completed NCT00005924
40 Comparison of Abbott Architect®, Siemens Immulite®, and Diasorin Liaison® for Determination of Epstein-Barr Virus Serological Diagnosis Completed NCT03650231
41 Prospective Study of Possible Infectious Disease - Associated Antigen Drive in Previously Untreated Indolent Lymphoma Completed NCT00582270
42 Comprehensive Epitope Mapping of the Epstein-Barr Virus Latent Membrane Protein-2 in Ethnically Diverse Populations Completed NCT00070785
43 Integrating Genetic and Environmental Risk Scores Into an Algorithm to Predict Multiple Sclerosis Susceptibility Completed NCT01617395
44 A Home-based Rehabilitation Program in Multiple Chronic Diseases: the RITH Trial Completed NCT02715245
45 Neuroactive Steroids in Acute Ischemic Stroke: Association With Cognitive, Functional and Neurological Outcomes. Completed NCT02914106
46 Intervention to Improve Social and Family Support for Caregivers of Dependent Patients Completed NCT02065427
47 Effectiveness of Nursing Intervention on Quality of Life of Older Caregivers: Clinical Trial Randomised by Clusters Completed NCT01478295
48 Clinical Evaluation of the Artus® CMV RG PCR Test Completed NCT01034709
49 Pilot Study of a Multicomponent Nurse Intervention to Reduce the Incidence and Severity of Delirium in Hospitalized Older Adults: MID-Nurse-P Completed NCT02558777
50 Efficacy of a Biodanza Program in People With Alzheimer's Disease. Completed NCT04113967

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

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
Testes, T Cells, Spleen, Bone, B Cells, Liver, Eye

Publications for Pfeiffer Syndrome

Articles related to Pfeiffer Syndrome:

(show top 50) (show all 6269)
# 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. 54 61 56 6
9475591 1998
2
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. 56 6 61 54
9150725 1997
3
FGFR2 mutations in Pfeiffer syndrome. 56 6 61 54
7719333 1995
4
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 6 61 56 54
7719345 1995
5
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. 61 56 6 54
7874169 1994
6
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. 6 56 61
15996217 2005
7
Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2. 61 56 6
12400058 2002
8
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 56 6 61
8434615 1993
9
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 56 6
8528214 1995
10
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. 6 54 61
15523615 2004
11
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. 54 61 6
15282208 2004
12
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
13
Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. 6 54 61
11807866 2002
14
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. 61 6 54
10945669 2000
15
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 61 54 56
10712195 2000
16
Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2. 6 54 61
10731087 1999
17
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 61 54 6
10394936 1999
18
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. 61 6 54
9714439 1998
19
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. 56 54 61
8644708 1996
20
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 54 56 61
7795583 1995
21
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. 61 56
14564217 2003
22
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 6 61
10861678 2000
23
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 6 61
10406670 1999
24
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. 6 61
9973282 1999
25
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children. 54 6
9586546 1998
26
Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification. 61 56
9475589 1998
27
Pfeiffer syndrome type 2: further delineation and review of the literature. 61 56
9475590 1998
28
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 61 6
9002682 1997
29
Type 3 Pfeiffer syndrome with normal thumbs. 6 61
8958319 1996
30
Audiologic and otologic characteristics of Pfeiffer syndrome. 61 56
8939381 1996
31
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. 61 56
8841188 1996
32
Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. 56 61
7881412 1994
33
Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child. 56 61
1472357 1992
34
Congenital tracheal stenosis in Pfeiffer syndrome. 61 56
2208766 1990
35
Mild expression of the Pfeiffer syndrome. 61 56
3342547 1988
36
Cloverleaf skull associated with Pfeiffer syndrome: pathology and management. 56 61
3792393 1986
37
The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. 56 61
856510 1977
38
Pfeiffer syndrome: report of a family and review of the literature. 56 61
957376 1976
39
Familial acrocephalosyndactyly (Pfeiffer syndrome). 61 56
4641185 1972
40
Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes. 56 61
5551881 1971
41
Predictors of Epstein-Barr virus serostatus and implications for vaccine policy: A systematic review of the literature. 61 42
32257152 2020
42
Infectious mononucleosis diagnosed by Downey cells: sometimes the old ways are better. 42 61
31954467 2020
43
Upper eyelid oedema in a patient with pharyngitis/exudative tonsillitis and malaise: Hoagland sign in infectious mononucleosis. 42 61
31871012 2019
44
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. 6
15523492 2005
45
Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G). 6
15286168 2004
46
Genetics of craniofacial development and malformation. 6
11389462 2001
47
Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers. 6
11325814 2001
48
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 6
10633130 2000
49
Patient described by Chun et al. may not present Antley-Bixler syndrome. 6
10076886 1999
50
Not Antley-Bixler syndrome. 6
10076887 1999

Variations for Pfeiffer Syndrome

ClinVar genetic disease variations for Pfeiffer Syndrome:

6 (show top 50) (show all 193) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)SNV Pathogenic 13263 rs121918487 10:123276892-123276892 10:121517378-121517378
2 FGFR2 NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)SNV Pathogenic 13266 rs121918488 10:123276893-123276893 10:121517379-121517379
3 FGFR2 NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)SNV Pathogenic 13267 rs121918488 10:123276893-123276893 10:121517379-121517379
4 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)SNV Pathogenic 13268 rs121918491 10:123276885-123276885 10:121517371-121517371
5 FGFR2 NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)SNV Pathogenic 13276 rs121918497 10:123279566-123279566 10:121520052-121520052
6 FGFR2 NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)SNV Pathogenic 13281 rs121918499 10:123279562-123279562 10:121520048-121520048
7 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)SNV Pathogenic 13272 rs79184941 10:123279677-123279677 10:121520163-121520163
8 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)SNV Pathogenic 13273 rs77543610 10:123279674-123279674 10:121520160-121520160
9 FGFR2 NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro)SNV Pathogenic 13274 rs121918495 10:123276896-123276896 10:121517382-121517382
10 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)SNV Pathogenic 13277 rs121913478 10:123274794-123274794 10:121515280-121515280
11 FGFR2 NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)SNV Pathogenic 13286 rs121918502 10:123276865-123276865 10:121517351-121517351
12 FGFR2 NM_000141.5(FGFR2):c.818_820del (p.Asp273del)deletion Pathogenic 13288 rs121918503 10:123279612-123279614 10:121520098-121520100
13 FGFR2 NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)SNV Pathogenic 13290 rs121918505 10:123279633-123279633 10:121520119-121520119
14 FGFR2 NM_022970.3(FGFR2):c.1087+1218G>ASNV Pathogenic 13291 rs879253719 10:123276978-123276978 10:121517464-121517464
15 FGFR2 NM_022970.3(FGFR2):c.1087+1216_1087+1225delinsACCindel Pathogenic 13292 10:123276971-123276980 10:121517457-121517466
16 FGFR2 NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)SNV Pathogenic 13293 rs121918499 10:123279562-123279562 10:121520048-121520048
17 FGFR2 NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys)SNV Pathogenic 449024 rs1434545235 10:123325014-123325014 10:121565500-121565500
18 FGFR1 NM_023110.2(FGFR1):c.1430+1G>ASNV Pathogenic 463529 rs1554552774 8:38275745-38275745 8:38418227-38418227
19 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg)SNV Pathogenic 478046 rs1554927408 10:123274768-123274768 10:121515254-121515254
20 FGFR2 NM_022970.3(FGFR2):c.1087+1366A>GSNV Pathogenic 13299 rs879253721 10:123276830-123276830 10:121517316-121517316
21 FGFR2 NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala)SNV Pathogenic 13300 rs121918510 10:123276955-123276955 10:121517441-121517441
22 FGFR1 NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg)SNV Pathogenic 16279 rs121909627 8:38282208-38282208 8:38424690-38424690
23 FGFR2 NM_000141.5(FGFR2):c.864_881del (p.Ile288_Val294delinsMet)deletion Pathogenic 254237 rs886037837 10:123279551-123279568 10:121520037-121520054
24 FGFR2 NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)SNV Pathogenic 265431 rs776587763 10:123279599-123279599 10:121520085-121520085
25 FGFR1 NC_000008.11:g.(?_38424489)_(38461126_?)deldeletion Pathogenic 832441 8:38282007-38318644
26 FGFR2 NM_000141.5(FGFR2):c.755_757delinsTCT (p.Ser252_Pro253delinsPheSer)indel Pathogenic 13280 rs281865420 10:123279675-123279677 10:121520161-121520163
27 FGFR1 NM_023110.3(FGFR1):c.1512del (p.Lys504fs)deletion Pathogenic 862263 8:38275428-38275428 8:38417910-38417910
28 FGFR2 NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly)SNV Pathogenic 374818 rs121918488 10:123276893-123276893 10:121517379-121517379
29 FGFR2 NM_022970.3(FGFR2):c.1087+1217A>GSNV Pathogenic 374814 rs1057519041 10:123276979-123276979 10:121517465-121517465
30 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)SNV Pathogenic/Likely pathogenic 374817 rs1057519044 10:123276904-123276904 10:121517390-121517390
31 FGFR2 NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg)SNV Pathogenic/Likely pathogenic 374824 rs1057519047 10:123247569-123247569 10:121488055-121488055
32 FGFR1 NM_023110.2(FGFR1):c.214C>T (p.Gln72Ter)SNV Pathogenic/Likely pathogenic 502125 rs1554570813 8:38287344-38287344 8:38429826-38429826
33 FGFR2 NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)SNV Likely pathogenic 13294 rs121918506 10:123256215-123256215 10:121496701-121496701
34 FGFR1 NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu)SNV Likely pathogenic 16299 rs121909641 8:38277238-38277238 8:38419720-38419720
35 FGFR2 NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)SNV Likely pathogenic 374823 rs121918506 10:123256215-123256215 10:121496701-121496701
36 FGFR2 NM_000141.5(FGFR2):c.833_834delinsTA (p.Cys278Leu)indel Likely pathogenic 374810 rs1057519037 10:123279598-123279599 10:121520084-121520085
37 FGFR1 NM_023110.2(FGFR1):c.448+1G>ASNV Likely pathogenic 654366 8:38285863-38285863 8:38428345-38428345
38 FGFR1 NM_023110.2(FGFR1):c.75G>A (p.Pro25=)SNV Conflicting interpretations of pathogenicity 362911 rs17175757 8:38314890-38314890 8:38457372-38457372
39 FGFR1 NM_023110.2(FGFR1):c.415A>G (p.Lys139Glu)SNV Conflicting interpretations of pathogenicity 362905 rs201054877 8:38285897-38285897 8:38428379-38428379
40 FGFR2 NM_000141.5(FGFR2):c.1239G>A (p.Pro413=)SNV Conflicting interpretations of pathogenicity 299003 rs147674677 10:123274679-123274679 10:121515165-121515165
41 FGFR1 NM_023110.2(FGFR1):c.2278T>C (p.Leu760=)SNV Conflicting interpretations of pathogenicity 391205 rs201490643 8:38271450-38271450 8:38413932-38413932
42 FGFR2 NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)SNV Conflicting interpretations of pathogenicity 577711 rs199757302 10:123276928-123276928 10:121517414-121517414
43 FGFR2 NM_000141.5(FGFR2):c.*111G>ASNV Conflicting interpretations of pathogenicity 298994 rs574474794 10:123239260-123239260 10:121479746-121479746
44 FGFR2 NM_000141.5(FGFR2):c.-135C>TSNV Conflicting interpretations of pathogenicity 299015 rs554557891 10:123353466-123353466 10:121593952-121593952
45 FGFR2 NM_000141.5(FGFR2):c.*921G>ASNV Conflicting interpretations of pathogenicity 298983 rs185617859 10:123238450-123238450 10:121478936-121478936
46 FGFR2 NM_022970.3(FGFR2):c.1565-11A>GSNV Conflicting interpretations of pathogenicity 299000 rs41293744 10:123258130-123258130 10:121498616-121498616
47 FGFR2 NM_022970.3(FGFR2):c.625-10A>GSNV Conflicting interpretations of pathogenicity 299007 rs201512833 10:123298239-123298239 10:121538725-121538725
48 FGFR1 NM_023110.2(FGFR1):c.232C>T (p.Arg78Cys)SNV Conflicting interpretations of pathogenicity 431966 rs1554570706 8:38287326-38287326 8:38429808-38429808
49 FGFR2 NM_000141.5(FGFR2):c.*674G>TSNV Conflicting interpretations of pathogenicity 298985 rs566155088 10:123238697-123238697 10:121479183-121479183
50 FGFR2 NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys)SNV Conflicting interpretations of pathogenicity 298995 rs764959117 10:123239421-123239421 10:121479907-121479907

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 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 48)
# 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
13.3 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
13.07 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
9
Show member pathways
13.04 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
10
Show member pathways
13 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
11
Show member pathways
12.89 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
12 12.86 GLI3 FGFR3 FGFR2 FGFR1 FGF8 FGF7
13 12.78 SH2D1A FGFR3 FGFR2 FGFR1 FGF8 FGF7
14
Show member pathways
12.75 FGFR2 FGFR1 FGF8 FGF7 FGF10
15
Show member pathways
12.74 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
16
Show member pathways
12.72 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
17
Show member pathways
12.69 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
18
Show member pathways
12.67 FGFR2 FGFR1 FGF8 FGF7 FGF10
19 12.65 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
12.41 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
23 12.3 TWIST1 PTPN11 FGFR1 COL1A1
24
Show member pathways
12.26 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
25
Show member pathways
12.23 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
26 12.12 SH2D1A FGFR3 FGFR2 FGFR1
27
Show member pathways
12.11 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
28
Show member pathways
12.08 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
29 11.92 TWIST1 FGFR3 FGFR2 FGFR1 FGF8
30 11.83 FGFR3 FGFR2 FGFR1
31 11.82 FGFR3 FGFR1 FGF8 FGF10
32
Show member pathways
11.79 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
33 11.77 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
34 11.71 FGFR3 FGFR2 FGFR1
35 11.58 RUNX2 GLI3 FGFR3 FGFR1 ALPL
36 11.53 TWIST1 RUNX2 BGLAP
37 11.53 NOG FGF8 FGF10
38 11.51 PTPN11 FGF8 FGF10
39 11.51 FGFR3 FGFR2 FGFR1 FGF7
40 11.5 RUNX2 COL1A1 BGLAP
41 11.49 FGFR3 FGFR2 FGFR1
42 11.48 RUNX2 PTPN11 BGLAP
43 11.41 RUNX2 COL1A1 BGLAP
44 11.33 RUNX2 PTPN11 FGFR2 FGFR1 BGLAP
45 11.08 SP7 RUNX2 NOG FGF8 FGF10 BGLAP
46 10.96 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
47 10.85 COL1A1 BGLAP
48 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 extracellular region GO:0005576 9.36 NOG FGFR3 FGFR2 FGFR1 FGF8 FGF7
2 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 83)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.28 TWIST1 SP7 RUNX2 NOG GLI3 FGFR2
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.23 TWIST1 NOG GLI3 FGFR2 FGFR1 ERF
3 positive regulation of cell proliferation GO:0008284 10.13 RUNX2 FGFR3 FGFR2 FGFR1 FGF8 FGF7
4 brain development GO:0007420 10.06 PTPN11 NOG GLI3 FGFR1
5 cell-cell signaling GO:0007267 10.05 SH2D1A FGFR3 FGFR2 FGF10
6 in utero embryonic development GO:0001701 10.03 TWIST1 NOG GLI3 FGFR2 FGFR1
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.02 PTPN11 FGFR3 FGFR2 FGF8 FGF10
8 MAPK cascade GO:0000165 10 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
9 positive regulation of MAPK cascade GO:0043410 9.98 FGFR3 FGFR2 FGFR1 FGF10
10 ossification GO:0001503 9.97 TWIST1 RUNX2 COL1A1 BGLAP
11 cellular response to mechanical stimulus GO:0071260 9.93 TNFRSF8 PTPN11 COL1A1
12 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.93 PTPN11 FGF8 FGF7 FGF10
13 positive regulation of kinase activity GO:0033674 9.92 FGFR3 FGFR2 FGFR1
14 inner ear morphogenesis GO:0042472 9.91 FGFR2 FGFR1 FGF8 FGF10
15 embryonic digit morphogenesis GO:0042733 9.9 TWIST1 NOG GLI3
16 odontogenesis of dentin-containing tooth GO:0042475 9.9 RUNX2 GLI3 FGF10
17 embryonic limb morphogenesis GO:0030326 9.9 TWIST1 GLI3 FGFR1
18 positive chemotaxis GO:0050918 9.9 FGF8 FGF7 FGF10
19 bone development GO:0060348 9.9 TWIST1 FGFR2 FGF8 BGLAP
20 positive regulation of cell division GO:0051781 9.89 FGFR2 FGF8 FGF7
21 regulation of cell differentiation GO:0045595 9.89 RUNX2 GLI3 FGFR1
22 chondrocyte differentiation GO:0002062 9.89 RUNX2 FGFR3 FGFR1
23 negative regulation of cell differentiation GO:0045596 9.89 TWIST1 NOG GLI3 FGF10
24 bone mineralization GO:0030282 9.88 FGFR3 FGFR2 BGLAP
25 limb development GO:0060173 9.88 NOG GLI3 FGF10
26 epithelial to mesenchymal transition GO:0001837 9.88 NOG FGFR2 FGFR1
27 ureteric bud development GO:0001657 9.88 NOG FGFR2 FGFR1
28 lung development GO:0030324 9.88 GLI3 FGFR2 FGFR1 FGF8 FGF10
29 metanephros development GO:0001656 9.87 GLI3 FGF8 FGF10
30 positive regulation of protein kinase B signaling GO:0051897 9.87 PTPN11 FGFR3 FGFR2 FGFR1 FGF8 FGF7
31 embryonic cranial skeleton morphogenesis GO:0048701 9.85 TWIST1 RUNX2 FGFR2
32 face morphogenesis GO:0060325 9.85 PTPN11 NOG COL1A1
33 hair follicle morphogenesis GO:0031069 9.85 FGFR2 FGF7 FGF10
34 wound healing GO:0042060 9.85 NOG GLI3 FGFR2 FGF10 COL1A1
35 skeletal system morphogenesis GO:0048705 9.84 RUNX2 FGFR2 FGFR1 COL1A1
36 limb morphogenesis GO:0035108 9.81 GLI3 FGF8 FGF10
37 lung morphogenesis GO:0060425 9.8 NOG FGF8 FGF10
38 odontogenesis GO:0042476 9.8 TWIST1 FGFR2 FGF8 BGLAP
39 skeletal system development GO:0001501 9.8 RUNX2 NOG FGFR3 FGFR1 COL1A1 BGLAP
40 embryonic digestive tract morphogenesis GO:0048557 9.79 GLI3 FGFR2 FGF10
41 positive regulation of epithelial cell proliferation GO:0050679 9.77 TWIST1 NOG FGFR2 FGF7 FGF10
42 regulation of osteoblast differentiation GO:0045667 9.76 RUNX2 FGFR2
43 positive regulation of keratinocyte proliferation GO:0010838 9.76 FGF7 FGF10
44 generation of neurons GO:0048699 9.76 FGFR1 FGF8
45 mesonephros development GO:0001823 9.76 FGF8 FGF10
46 positive regulation of keratinocyte migration GO:0051549 9.75 FGF7 FGF10
47 limb bud formation GO:0060174 9.75 FGFR2 FGF10
48 salivary gland morphogenesis GO:0007435 9.75 FGFR1 FGF10
49 membranous septum morphogenesis GO:0003149 9.75 NOG FGFR2
50 organ growth GO:0035265 9.75 PTPN11 FGFR2 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 9.62 FGFR2 FGFR1 FGF7 FGF10
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.54 FGFR3 FGFR2 FGFR1
3 chemoattractant activity GO:0042056 9.43 FGF8 FGF7 FGF10
4 fibroblast growth factor receptor binding GO:0005104 9.33 FGF8 FGF7 FGF10
5 fibroblast growth factor binding GO:0017134 9.13 FGFR3 FGFR2 FGFR1
6 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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