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 57 41 12 75 53 25 59 74 37 29 13 55 6 15 40 72
Infectious Mononucleosis 41 12 55 43 44 15 17 72 33
Acs5 57 53 25 59 74
Craniofacial-Skeletal-Dermatologic Dysplasia 57 53 25 6
Acrocephalosyndactyly Type 5 53 59 74
Noack Syndrome 57 53 25
Acs V 57 25 74
Pfeiffer Type Acrocephalosyndactyly 53 72
Gammaherpesviral Mononucleosis 12 33
Acrocephalosyndactyly, Type V 57 25
Pfeiffer Syndrome Type 3 59 29
Pfeiffer Syndrome Type 2 59 29
Dysplasia, Craniofacial-Skeletal-Dermatologic 40
Craniofacial-Skeletal-Dermatologic Syndrome 53
Acrocephalosyndactyly, Type V; Acs5 57
Acrocephalosyndactylia Type V 12
Acrocephalosyndactyly, Type 5 53
Pfeiffer Syndrome, Type Iii 6
Classic Pfeiffer Syndrome 59
Pfeiffer Syndrome Variant 6
Pfeiffer Syndrome Type 1 59
Pfeiffer's Disease 12
Filatov's Disease 12
Monocytic Angina 12
Glandular Fever 12
Mononucleosis 12
Pfeiffer 17
Acsv 53
Ps 74

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
pfeiffer syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:14705 DOID:8568
OMIM 57 101600
KEGG 37 H01756
ICD9CM 35 075
SNOMED-CT 68 26851006 70410008
ICD10 33 B27 B27.0 B27.9
MESH via Orphanet 45 C538582
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C0220658 C0265303 C2931888
UMLS 72 C0021345 C0220658 C2931888

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 crouzon syndrome and ankylosis, 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 Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include skull, testes and t cells, and related phenotypes are malar flattening 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 : 53 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)

MedlinePlus : 43 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 : 37
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 : 74 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 : 75 Pfeiffer syndrome is a very rare genetic disorder characterized by the premature fusion of certain bones... 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 785)
# Related Disease Score Top Affiliating Genes
1 crouzon syndrome 31.2 FGFR3 FGFR2 FGFR1
2 ankylosis 31.0 SP7 RUNX2 FGFR2 BGLAP
3 hypertelorism 30.9 TWIST1 FGFR2 COL1A1
4 jackson-weiss syndrome 30.9 FGFR3 FGFR2 FGFR1
5 synostosis 30.8 TWIST1 FGFR3 FGFR2 FGFR1
6 achondroplasia 30.7 FGFR3 FGFR2 FGFR1
7 radioulnar synostosis 30.7 FGFR3 FGFR2 FGFR1
8 craniosynostosis 30.5 TWIST1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
9 hartsfield syndrome 30.4 FGFR1 FGF8
10 plagiocephaly 30.1 TWIST1 FGFR3 FGFR2 FGFR1
11 immune deficiency disease 30.0 TNFRSF8 SH2D1A CD40LG
12 saethre-chotzen syndrome 29.9 TWIST1 RUNX2 FGFR3 FGFR2 FGFR1 BGLAP
13 bone disease 29.8 RUNX2 FGFR3 FGFR2 COL1A1 BGLAP ALPL
14 dysostosis 29.5 TWIST1 RUNX2 FGFR2
15 apert syndrome 29.2 TWIST1 FGFR3 FGFR2 FGFR1 FGF7 FGF10
16 muenke syndrome 28.2 TWIST1 FGFR3 FGFR2 FGFR1 FGF8 FGF7
17 lymphoproliferative syndrome, x-linked, 1 12.3
18 pfeiffer-palm-teller syndrome 12.3
19 pfeiffer kapferer syndrome 12.2
20 pfeiffer mayer syndrome 12.2
21 pfeiffer rockelein syndrome 12.2
22 pfeiffer tietze welte syndrome 12.2
23 mesomelia-synostoses syndrome 12.1
24 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 11.9
25 proteus syndrome 11.9
26 polydactyly, preaxial ii 11.8
27 cytomegalovirus infection 11.8
28 post-transplant lymphoproliferative disease 11.6
29 cytomegalic inclusion disease 11.6
30 chronic active epstein-barr virus infection 11.6
31 nodular nonsuppurative panniculitis 11.5
32 alzheimer disease 11.5
33 scott syndrome 11.4
34 preaxial polydactyly-colobomata-intellectual disability syndrome 11.3
35 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 11.3
36 lenz-majewski hyperostotic dwarfism 11.3
37 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.3
38 salivary gland disease 11.3
39 neurological consequences of cytomegalovirus infection 11.3
40 kleeblattschaedel 11.2
41 langer mesomelic dysplasia 11.2
42 ulna and fibula, hypoplasia of 11.2
43 pituitary hormone deficiency, combined, 3 11.2
44 obsolete: neurosensory deafness-pituitary dwarfism syndrome 11.2
45 epidermolytic hyperkeratosis 11.1
46 perlman syndrome 11.1
47 progeroid syndrome 11.1
48 premature aging 11.1
49 lymphoproliferative syndrome, x-linked, 2 11.1
50 cmv antenatal infection 11.1

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:

59 32 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000316
3 high palate 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000218
4 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
5 aqueductal stenosis 59 32 occasional (7.5%) Very frequent (99-80%),Frequent (79-30%),Occasional (29-5%) HP:0002410
6 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0005280
7 short nose 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0003196
8 broad hallux phalanx 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0010059
9 broad thumb 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0011304
10 laryngomalacia 59 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001601
11 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
12 cloverleaf skull 59 32 occasional (7.5%) Very frequent (99-80%) HP:0002676
13 respiratory distress 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002098
14 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001376
15 arnold-chiari malformation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002308
16 proptosis 59 32 frequent (33%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0000520
17 high forehead 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000348
18 short hallux 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0010109
19 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0011800
20 tracheomalacia 59 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0002779
21 stenosis of the external auditory canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0000402
22 brachyturricephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000244
23 aplasia/hypoplasia of the thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009601
24 hallux varus 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0008080
25 deviation of the thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009603
26 bicoronal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011318
27 hypoplasia of the zygomatic bone 32 hallmark (90%) HP:0010669
28 low-set ears 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000369
29 finger syndactyly 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0006101
30 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
31 intellectual disability 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001249
32 seizures 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001250
33 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
34 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
35 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
36 short foot 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001773
37 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
38 small hand 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0200055
39 choanal atresia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000453
40 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
41 turricephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000262
42 toe syndactyly 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001770
43 symphalangism affecting the phalanges of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0009773
44 atresia of the external auditory canal 59 32 frequent (33%) Frequent (79-30%) HP:0000413
45 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
46 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
47 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
48 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000365
49 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
50 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002516

Symptoms via clinical synopsis from OMIM:

57
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:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.44 ALPL CD40LG CD8A COL1A1 CR2 FGF10
2 cellular MP:0005384 10.41 ALPL CD40LG CD8A COL1A1 COL3A1 FGF10
3 immune system MP:0005387 10.41 ALPL CD40LG CD8A COL1A1 COL3A1 CR2
4 homeostasis/metabolism MP:0005376 10.4 ALPL CD40LG COL1A1 COL3A1 CR2 FGF10
5 growth/size/body region MP:0005378 10.37 ALPL COL1A1 COL3A1 FGF10 FGF7 FGF8
6 mortality/aging MP:0010768 10.36 ALPL CD40LG CD8A COL1A1 COL3A1 CR2
7 cardiovascular system MP:0005385 10.35 ALPL CD40LG COL1A1 COL3A1 FGF10 FGF8
8 digestive/alimentary MP:0005381 10.28 ALPL COL1A1 COL3A1 FGF10 FGF8 FGFR1
9 endocrine/exocrine gland MP:0005379 10.27 ALPL CD40LG CD8A COL1A1 FGF10 FGF8
10 craniofacial MP:0005382 10.24 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
11 nervous system MP:0003631 10.22 ALPL CD40LG CD8A COL1A1 FGF10 FGF7
12 integument MP:0010771 10.19 CD40LG CD8A COL1A1 COL3A1 FGF10 FGF7
13 embryo MP:0005380 10.18 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
14 limbs/digits/tail MP:0005371 10.18 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
15 muscle MP:0005369 10.09 ALPL COL1A1 COL3A1 FGF10 FGF8 FGFR1
16 normal MP:0002873 10.07 CD8A COL1A1 FGF10 FGF8 FGFR1 FGFR2
17 hearing/vestibular/ear MP:0005377 10.02 COL1A1 FGF10 FGF8 FGFR1 FGFR2 FGFR3
18 renal/urinary system MP:0005367 10.02 CD40LG CD8A COL1A1 CR2 FGF10 FGF7
19 reproductive system MP:0005389 9.96 ALPL CD40LG COL1A1 FGF10 FGF7 FGF8
20 respiratory system MP:0005388 9.81 ALPL COL1A1 COL3A1 FGF10 FGF8 FGFR2
21 skeleton MP:0005390 9.77 ALPL CD40LG COL1A1 FGF10 FGF7 FGF8
22 vision/eye MP:0005391 9.23 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 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 3
2 Immunoglobulins Phase 3
3 Immunoglobulin G Phase 3
4 gamma-Globulins Phase 3
5 Immunoglobulins, Intravenous Phase 3
6 Rho(D) Immune Globulin Phase 3
7
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
9
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
10
Lenograstim Approved, Investigational Phase 2 135968-09-1
11
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
12
Valganciclovir Approved, Investigational Phase 2 175865-60-8 64147
13 Vaccines Phase 2
14 Antiemetics Phase 2
15 Hormone Antagonists Phase 2
16 Gastrointestinal Agents Phase 2
17 HIV Protease Inhibitors Phase 2
18 Anti-Inflammatory Agents Phase 2
19
protease inhibitors Phase 2
20 glucocorticoids Phase 2
21 Peripheral Nervous System Agents Phase 2
22 Tubulin Modulators Phase 2
23 Antineoplastic Agents, Hormonal Phase 2
24 Antimitotic Agents Phase 2
25 Autonomic Agents Phase 2
26 BB 1101 Phase 2
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
28 Antiviral Agents Phase 2
29 valacyclovir Phase 2
30 Anti-Infective Agents Phase 2
31
nivolumab Approved Phase 1 946414-94-4
32
Vidarabine Approved, Investigational Phase 1 24356-66-9 21704 32326
33
Ondansetron Approved Phase 1 99614-02-5 4595
34
Azacitidine Approved, Investigational Phase 1 320-67-2 9444
35
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
36
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
37
Neomycin Approved, Vet_approved Phase 1 1404-04-2 8378
38 Anti-Bacterial Agents Phase 1
39 Antineoplastic Agents, Immunological Phase 1
40 Emetics Phase 1
41 Immunosuppressive Agents Phase 1
42 Alkylating Agents Phase 1
43 Antimetabolites, Antineoplastic Phase 1
44 Antimetabolites Phase 1
45 Antirheumatic Agents Phase 1
46 Antineoplastic Agents, Alkylating Phase 1
47 Pharmaceutical Solutions Phase 1
48
Ocrelizumab Approved, Investigational 637334-45-3
49
Remifentanil Approved 132875-61-7 60815
50
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943

Interventional clinical trials:

(show top 50) (show all 64)
# Name Status NCT ID Phase Drugs
1 Acupuncture for Infectious Mononucleosis Trial Completed NCT00598988 Phase 2, Phase 3
2 Domiciliary Intervention by Occupational Therapy After Hospital Discharge, to Prevent Rehospitalization in Elderly: Randomized Clinical Trial Completed NCT02052401 Phase 3
3 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Active, not recruiting NCT01376778 Phase 3 CMV hyperimmune globulin
4 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
5 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
6 Randomized Study Assessing the Antiviral Activity and Safety of Valacyclovir in Primary Infectious Mononucleosis Completed NCT00274404 Phase 1, Phase 2 valacyclovir
7 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
8 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
9 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
10 Restauration of EBV Control in SLE Phase 1-2 Trial Evaluating Adoptive Transfer of Autologous EBV- Specific Cytotoxic T Lymphocytes in SLE Treatment Recruiting NCT02677688 Phase 1, Phase 2
11 ValGanciclovir Versus ValAcyclovir for Viral Prophylaxis in Kidney Transplantation Recruiting NCT01972035 Phase 2 Valacyclovir;Valganciclovir
12 Chronic Fatigue Syndrome: Correction of Mitochondrial Dysfunction by Conditioning Exercise and Nutraceutical Therapy. Withdrawn NCT01471652 Phase 2 Nutraceutical supplements;Placebo
13 Intervention of Nutritional Education Addressed to Carers of Dependant Patients Unknown status NCT01360775 Phase 1
14 Administration of Neomycin Resistance Gene Marked EBV Specific Cytotoxic T-Lymphocytes to Patients With Relapsed EBV-Positive Lymphoma Completed NCT00058617 Phase 1
15 Administration of EBV-Specific T-Lymphocytes to Patients With EBV-Positive Nasopharyngeal Carcinoma Completed NCT00609219 Phase 1
16 Administration of LMP1- and LMP2-Specific Cytotoxic T-Lymphocytes to Patients With EBV-Positive Nasopharyngeal Carcinoma Completed NCT00516087 Phase 1
17 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
18 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
19 ADMINISTRATION OF LMP-SPECIFIC CYTOTOXIC T-LYMPHOCYTES TO PATIENTS WITH RELAPSED EBV-POSITIVE LYMPHOMA Recruiting NCT01956084 Phase 1 LMP1/2 CTLs (Group A);LMP1/2 CTLs (Group B)
20 Phase I Study Combining Nivolumab With Epstein Barr Virus Specific T Cells (EBVSTS) in Relapsed/Refractory EBV Positive Lymphoma Patients (PREVALE) Recruiting NCT02973113 Phase 1
21 Administration of Rapidly Generated LMP, BARF1 And EBNA1 Specific Cytotoxic T-Lymphocytes To Patients With EBV-Positive Lymphoma Recruiting NCT01555892 Phase 1
22 ADMINISTRATION OF MOST CLOSELY MATCHED THIRD PARTY RAPIDLY GENERATED LMP, BARF1 and EBNA1 SPECIFIC CYTOTOXIC T-LYMPHOCYTES TO PATIENTS WITH EBV-POSITIVE LYMPHOMA Recruiting NCT02287311 Phase 1 Cyclophosphamide;Fludarabine
23 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
24 Most Closely HLA-Matched Allogeneic LMP1/2-Specific Cytotoxic T Lymphocytes for Treatment of Patients With Relapsed EBV-Associated Diseases Active, not recruiting NCT01447056 Phase 1
25 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
26 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
27 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
28 Administration of LMP-Specific Cytotoxic T-Lymphocytes to Patients With Relapsed EBV-Positive Lymphoma (ALCI) Active, not recruiting NCT00062868 Phase 1
29 Administration Of TGF-beta Resistant Cytotoxic T-Lymphocytes to Patients With EBV-positive Nasopharyngeal Carcinoma (RESIST-NPC) Active, not recruiting NCT02065362 Phase 1
30 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
31 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
32 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
33 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
34 HIV Indicator Diseases Across Europe Study Unknown status NCT01681706
35 Genetic Studies of the X-Linked Lymphoproliferative Disease Completed NCT00359411
36 Studies on Epstein-Barr Virus as a Possible Etiological Agent for Chronic Fatigue Syndrome Completed NCT00433355
37 Persistence of Epstein-Barr Virus in Vivo Completed NCT00005924
38 Comparison of Abbott Architect®, Siemens Immulite®, and Diasorin Liaison® for Determination of Epstein-Barr Virus Serological Diagnosis Completed NCT03650231
39 Prospective Study of Possible Infectious Disease - Associated Antigen Drive in Previously Untreated Indolent Lymphoma Completed NCT00582270
40 Comprehensive Epitope Mapping of the Epstein-Barr Virus Latent Membrane Protein-2 in Ethnically Diverse Populations Completed NCT00070785
41 Neuroactive Steroids in Acute Ischemic Stroke: Association With Cognitive, Functional and Neurological Outcomes. Completed NCT02914106
42 A Home-based Rehabilitation Program in Multiple Chronic Diseases: the RITH Trial Completed NCT02715245
43 Effectiveness of Nursing Intervention on Quality of Life of Older Caregivers: Clinical Trial Randomised by Clusters Completed NCT01478295
44 Intervention to Improve Social and Family Support for Caregivers of Dependent Patients Completed NCT02065427
45 Clinical Evaluation of the Artus® CMV RG PCR Test Completed NCT01034709
46 Predicting Long Term Survival in Patients With Primary Intracerebral Hemorrhage. Development and Validation of the ICHCat in Primary Care. Completed NCT03247049
47 Pilot Study of a Multicomponent Nurse Intervention to Reduce the Incidence and Severity of Delirium in Hospitalized Older Adults: MID-Nurse-P Completed NCT02558777
48 Effects of Aerobic Exercise in Parkinson's Disease Completed NCT00784563
49 Preschoolers Activity Trial - a Pilot Randomized Controlled to Increase Physical Activity and Reduce Sedentary Behaviour Completed NCT02293278
50 The Use of Point-of-Care Ultrasound in the Diagnosis of Acute Infectious Mononucleosis in the Emergency Department Recruiting 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 2 29
3 Pfeiffer Syndrome Type 3 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:

41
Testes, T Cells, Spleen, Bone, B Cells, Liver, Eye

Publications for Pfeiffer Syndrome

Articles related to Pfeiffer Syndrome:

(show top 50) (show all 6169)
# 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. 9 38 8 71
9475591 1998
2
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. 9 38 8 71
9150725 1997
3
FGFR2 mutations in Pfeiffer syndrome. 9 38 8 71
7719333 1995
4
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 9 38 8 71
7719345 1995
5
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. 9 38 8 71
7874169 1994
6
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. 38 8 71
15996217 2005
7
Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2. 38 8 71
12400058 2002
8
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 38 8 71
8434615 1993
9
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 8 71
8528214 1995
10
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. 9 38 71
15523615 2004
11
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. 9 38 71
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. 9 38 71
14613973 2004
13
Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. 9 38 71
11807866 2002
14
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. 9 38 71
10945669 2000
15
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 9 38 8
10712195 2000
16
Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2. 9 38 71
10731087 1999
17
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 9 38 71
10394936 1999
18
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. 9 38 71
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. 9 38 8
8644708 1996
20
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 9 38 8
7795583 1995
21
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. 38 8
14564217 2003
22
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 38 71
10861678 2000
23
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 38 71
10406670 1999
24
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. 38 71
9973282 1999
25
FGFR-Related Craniosynostosis Syndromes 38 71
20301628 1998
26
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children. 9 71
9586546 1998
27
Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification. 38 8
9475589 1998
28
Pfeiffer syndrome type 2: further delineation and review of the literature. 38 8
9475590 1998
29
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 38 71
9002682 1997
30
Type 3 Pfeiffer syndrome with normal thumbs. 38 71
8958319 1996
31
Audiologic and otologic characteristics of Pfeiffer syndrome. 38 8
8939381 1996
32
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. 38 8
8841188 1996
33
Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. 38 8
7881412 1994
34
Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child. 38 8
1472357 1992
35
Congenital tracheal stenosis in Pfeiffer syndrome. 38 8
2208766 1990
36
Mild expression of the Pfeiffer syndrome. 38 8
3342547 1988
37
Cloverleaf skull associated with Pfeiffer syndrome: pathology and management. 38 8
3792393 1986
38
The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. 38 8
856510 1977
39
Pfeiffer syndrome: report of a family and review of the literature. 38 8
957376 1976
40
Familial acrocephalosyndactyly (Pfeiffer syndrome). 38 8
4641185 1972
41
Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes. 38 8
5551881 1971
42
Detection and virulence potential of a phospholipase D-negative Corynebacterium ulcerans from a concurrent diphtheria and infectious mononucleosis case. 38 17
30771116 2019
43
Cervical necrotising fasciitis: a rare complication of infectious mononucleosis. 38 17
30826780 2019
44
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. 71
15523492 2005
45
Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G). 71
15286168 2004
46
Genetics of craniofacial development and malformation. 71
11389462 2001
47
Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers. 71
11325814 2001
48
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 71
10633130 2000
49
Patient described by Chun et al. may not present Antley-Bixler syndrome. 71
10076886 1999
50
Not Antley-Bixler syndrome. 71
10076887 1999

Variations for Pfeiffer Syndrome

ClinVar genetic disease variations for Pfeiffer Syndrome:

6 (show top 50) (show all 185)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs121918487 10:123276892-123276892 10:121517378-121517378
2 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 10:123276893-123276893 10:121517379-121517379
3 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 10:123276893-123276893 10:121517379-121517379
4 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 10:123276885-123276885 10:121517371-121517371
5 FGFR2 NM_000141.4(FGFR2): c.1021A> C (p.Thr341Pro) single nucleotide variant Pathogenic rs121918495 10:123276896-123276896 10:121517382-121517382
6 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 10:123279566-123279566 10:121520052-121520052
7 FGFR2 NM_000141.4(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic rs79184941 10:123279677-123279677 10:121520163-121520163
8 FGFR2 NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg) single nucleotide variant Pathogenic rs77543610 10:123279674-123279674 10:121520160-121520160
9 FGFR2 NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys) single nucleotide variant Pathogenic rs121913478 10:123274794-123274794 10:121515280-121515280
10 FGFR2 NM_000141.4(FGFR2): c.755_757delinsTCT (p.Ser252_Pro253delinsPheSer) indel Pathogenic rs281865420 10:123279675-123279677 10:121520161-121520163
11 FGFR2 NM_000141.4(FGFR2): c.870G> C (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 10:123279562-123279562 10:121520048-121520048
12 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 10:123276865-123276865 10:121517351-121517351
13 FGFR2 NM_000141.4(FGFR2): c.818_820del (p.Asp273del) deletion Pathogenic rs121918503 10:123279613-123279615 10:121520099-121520101
14 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 10:123279633-123279633 10:121520119-121520119
15 FGFR2 NM_000141.4(FGFR2): c.940-1G> A single nucleotide variant Pathogenic rs879253719 10:123276978-123276978 10:121517464-121517464
16 FGFR2 NM_000141.4(FGFR2): c.940-3_946delinsACC indel Pathogenic 10:123276971-123276980 10:121517457-121517466
17 FGFR2 NM_000141.4(FGFR2): c.870G> T (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 10:123279562-123279562 10:121520048-121520048
18 FGFR2 NM_000141.4(FGFR2): c.1024T> G (p.Cys342Gly) single nucleotide variant Pathogenic rs121918488 10:123276893-123276893 10:121517379-121517379
19 FGFR2 NM_000141.4(FGFR2): c.314A> G (p.Tyr105Cys) single nucleotide variant Pathogenic rs1434545235 10:123325014-123325014 10:121565500-121565500
20 FGFR1 NM_023110.2(FGFR1): c.1430+1G> A single nucleotide variant Pathogenic rs1554552774 8:38275745-38275745 8:38418227-38418227
21 FGFR2 NM_000141.4(FGFR2): c.940-2A> G single nucleotide variant Pathogenic rs1057519041 10:123276979-123276979 10:121517465-121517465
22 FGFR2 NM_000141.4(FGFR2): c.1150G> A (p.Gly384Arg) single nucleotide variant Pathogenic rs1554927408 10:123274768-123274768 10:121515254-121515254
23 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 10:123276830-123276830 10:121517316-121517316
24 FGFR2 NM_000141.4(FGFR2): c.962A> C (p.Asp321Ala) single nucleotide variant Pathogenic rs121918510 10:123276955-123276955 10:121517441-121517441
25 FGFR2 NM_000141.4(FGFR2): c.833G> T (p.Cys278Phe) single nucleotide variant Pathogenic rs776587763 10:123279599-123279599 10:121520085-121520085
26 FGFR2 NM_000141.4(FGFR2): c.864_881del (p.Ile288_Val294delinsMet) deletion Pathogenic rs886037837 10:123279551-123279568 10:121520037-121520054
27 FGFR1 NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg) single nucleotide variant Pathogenic rs121909627 8:38282208-38282208 8:38424690-38424690
28 FGFR1 NM_023110.2(FGFR1): c.214C> T (p.Gln72Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1554570813 8:38287344-38287344 8:38429826-38429826
29 FGFR2 NM_000141.4(FGFR2): c.1013G> A (p.Gly338Glu) single nucleotide variant Pathogenic/Likely pathogenic rs1057519044 10:123276904-123276904 10:121517390-121517390
30 FGFR2 NM_000141.4(FGFR2): c.1922A> G (p.Lys641Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1057519047 10:123247569-123247569 10:121488055-121488055
31 FGFR2 NM_000141.4(FGFR2): c.1694A> G (p.Glu565Gly) single nucleotide variant Likely pathogenic rs121918506 10:123256215-123256215 10:121496701-121496701
32 FGFR2 NM_000141.4(FGFR2): c.833_834delinsTA (p.Cys278Leu) indel Likely pathogenic rs1057519037 10:123279598-123279599 10:121520084-121520085
33 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Likely pathogenic rs121918506 10:123256215-123256215 10:121496701-121496701
34 FGFR1 NM_023110.2(FGFR1): c.1097C> T (p.Pro366Leu) single nucleotide variant Likely pathogenic rs121909641 8:38277238-38277238 8:38419720-38419720
35 FGFR1 NM_023110.2(FGFR1): c.448+1G> A single nucleotide variant Likely pathogenic 8:38285863-38285863 8:38428345-38428345
36 FGFR1 NM_023110.2(FGFR1): c.232C> T (p.Arg78Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1554570706 8:38287326-38287326 8:38429808-38429808
37 FGFR1 NM_023110.2(FGFR1): c.1368G> T (p.Met456Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200776757 8:38275808-38275808 8:38418290-38418290
38 FGFR1 NM_023110.2(FGFR1): c.2465G> A (p.Arg822His) single nucleotide variant Uncertain significance rs758677681 8:38271150-38271150 8:38413632-38413632
39 FGFR1 NM_023110.2(FGFR1): c.*313T> C single nucleotide variant Uncertain significance rs886062915 8:38270833-38270833 8:38413315-38413315
40 FGFR1 NM_023110.2(FGFR1): c.*494A> G single nucleotide variant Uncertain significance rs562843836 8:38270652-38270652 8:38413134-38413134
41 FGFR1 NM_023110.2(FGFR1): c.*958G> A single nucleotide variant Uncertain significance rs537880800 8:38270188-38270188 8:38412670-38412670
42 FGFR1 NM_023110.2(FGFR1): c.*1218T> C single nucleotide variant Uncertain significance rs886062910 8:38269928-38269928 8:38412410-38412410
43 FGFR1 NM_023110.2(FGFR1): c.*1560C> T single nucleotide variant Uncertain significance rs761096092 8:38269586-38269586 8:38412068-38412068
44 FGFR1 NM_023110.2(FGFR1): c.*1616T> G single nucleotide variant Uncertain significance rs886062908 8:38269530-38269530 8:38412012-38412012
45 FGFR1 NM_023110.2(FGFR1): c.*1965G> A single nucleotide variant Uncertain significance rs886062907 8:38269181-38269181 8:38411663-38411663
46 FGFR1 NM_023110.2(FGFR1): c.2292+3A> G single nucleotide variant Uncertain significance rs747737281 8:38271433-38271433 8:38413915-38413915
47 FGFR1 NM_023110.2(FGFR1): c.75G> A (p.Pro25=) single nucleotide variant Uncertain significance rs17175757 8:38314890-38314890 8:38457372-38457372
48 FGFR1 NM_023110.2(FGFR1): c.415A> G (p.Lys139Glu) single nucleotide variant Uncertain significance rs201054877 8:38285897-38285897 8:38428379-38428379
49 FGFR1 NM_023110.2(FGFR1): c.449-7C> T single nucleotide variant Uncertain significance rs754454127 8:38285618-38285618 8:38428100-38428100
50 FGFR1 NM_023110.2(FGFR1): c.549C> T (p.Thr183=) single nucleotide variant Uncertain significance rs886062920 8:38285511-38285511 8:38427993-38427993

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

74 (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 FGFR3 FGFR2 FGFR1
2
Show member pathways
13.87 TNFRSF8 FOSL1 FGFR3 FGFR2 FGFR1 FGF8
3
Show member pathways
13.46 SH2D1A FGFR3 FGFR2 FGFR1 FGF8 FGF7
4
Show member pathways
13.41 TNFRSF8 FOSL1 FGFR3 FGFR2 FGFR1 FGF8
5
Show member pathways
13.35 TWIST1 TNFRSF8 FGFR3 FGFR2 FGFR1 FGF8
6
Show member pathways
13.31 TNFRSF8 FGFR3 FGFR2 FGFR1 FGF8 FGF7
7
Show member pathways
13.05 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
8
Show member pathways
13.03 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
9
Show member pathways
13 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
10
Show member pathways
12.87 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
11 12.85 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
12
Show member pathways
12.76 FGFR2 FGFR1 FGF8 FGF7 FGF10
13
Show member pathways
12.76 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
14
Show member pathways
12.74 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
15
Show member pathways
12.71 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
16 12.69 SH2D1A FGFR3 FGFR2 FGFR1 FGF8 FGF7
17 12.63 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
18
Show member pathways
12.56 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
19
Show member pathways
12.53 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
20
Show member pathways
12.42 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
21
Show member pathways
12.41 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
22
Show member pathways
12.29 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
23
Show member pathways
12.28 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
24
Show member pathways
12.25 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
25
Show member pathways
12.24 FGFR3 FGFR2 FGFR1 COL1A1
26 12.14 SH2D1A FGFR3 FGFR2 FGFR1
27
Show member pathways
12.09 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
28
Show member pathways
12.02 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
29 11.9 RUNX2 FGFR1 BGLAP
30
Show member pathways
11.83 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
31 11.82 FGFR3 FGFR2 FGFR1
32 11.81 FGFR3 FGFR1 FGF8 FGF10
33 11.73 TWIST1 FGFR3 FGFR2 FGFR1 FGF8
34 11.71 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
35 11.7 FGFR3 FGFR2 FGFR1
36 11.69 RUNX2 FGFR3 FGFR1 ALPL
37 11.62 TNFRSF8 COL3A1 CD40LG
38 11.58 TNFRSF8 CR2 CD40LG
39 11.53 TWIST1 RUNX2 BGLAP
40 11.5 FGFR3 FGFR2 FGFR1
41 11.48 RUNX2 FGFR2 FGFR1 BGLAP
42 11.45 RUNX2 FOSL1 COL1A1 BGLAP
43 11.43 RUNX2 COL1A1 BGLAP
44 11.39 FGFR3 FGFR2 FGFR1 FGF7
45 11.35 COL3A1 COL1A1 CD40LG
46 10.85 COL1A1 BGLAP
47 10.58 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
48 10.18 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10

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 receptor complex GO:0043235 9.46 FGFR3 FGFR2 FGFR1 CR2
2 extracellular region GO:0005576 9.4 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
3 extracellular matrix GO:0031012 9.13 COL3A1 COL1A1 ALPL

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

(show top 50) (show all 69)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.99 TWIST1 RUNX2 FGF8 FGF10
2 regulation of immune response GO:0050776 9.99 SH2D1A COL3A1 COL1A1 CD8A CD40LG
3 positive regulation of MAPK cascade GO:0043410 9.97 FGFR3 FGFR2 FGFR1 FGF10
4 response to organic cyclic compound GO:0014070 9.97 FOSL1 FGF8 FGF10 BGLAP
5 MAPK cascade GO:0000165 9.97 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
6 platelet activation GO:0030168 9.92 COL3A1 COL1A1 CD40LG
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.92 FGFR3 FGFR2 FGF8 FGF10
8 positive regulation of canonical Wnt signaling pathway GO:0090263 9.91 FGFR2 FGF10 COL1A1
9 wound healing GO:0042060 9.91 FGFR2 FGF10 COL3A1 COL1A1
10 lung development GO:0030324 9.91 FGFR2 FGFR1 FGF8 FGF10
11 ossification GO:0001503 9.9 TWIST1 RUNX2 COL1A1 BGLAP
12 positive regulation of cell cycle GO:0045787 9.88 FOSL1 FGFR2 FGFR1
13 response to mechanical stimulus GO:0009612 9.88 FOSL1 COL3A1 COL1A1 BGLAP
14 inner ear morphogenesis GO:0042472 9.88 FGFR2 FGFR1 FGF8 FGF10
15 positive regulation of cell division GO:0051781 9.87 FGFR2 FGF8 FGF7
16 positive regulation of epithelial cell proliferation GO:0050679 9.87 TWIST1 FGFR2 FGF7 FGF10
17 positive chemotaxis GO:0050918 9.86 FGF8 FGF7 FGF10
18 bone development GO:0060348 9.86 TWIST1 FGFR2 FGF8 BGLAP
19 chondrocyte differentiation GO:0002062 9.85 RUNX2 FGFR3 FGFR1
20 bone mineralization GO:0030282 9.85 FGFR3 FGFR2 BGLAP
21 negative regulation of apoptotic process GO:0043066 9.85 TWIST1 FGF8 CD40LG
22 embryonic cranial skeleton morphogenesis GO:0048701 9.84 TWIST1 RUNX2 FGFR2
23 skeletal system morphogenesis GO:0048705 9.84 RUNX2 FGFR2 FGFR1 COL1A1
24 digestive tract development GO:0048565 9.83 FGFR2 FGF10 COL3A1
25 positive regulation of protein kinase B signaling GO:0051897 9.8 FGFR3 FGFR2 FGFR1 FGF8 FGF7 FGF10
26 hair follicle morphogenesis GO:0031069 9.79 FGFR2 FGF7 FGF10
27 odontogenesis GO:0042476 9.78 TWIST1 FGFR2 FGF8 BGLAP
28 endochondral ossification GO:0001958 9.76 RUNX2 FGFR3 COL1A1 ALPL
29 regulation of osteoblast differentiation GO:0045667 9.74 RUNX2 FGFR2
30 mesonephros development GO:0001823 9.74 FGF8 FGF10
31 generation of neurons GO:0048699 9.74 FGFR1 FGF8
32 positive regulation of keratinocyte migration GO:0051549 9.73 FGF7 FGF10
33 organ growth GO:0035265 9.73 FGFR2 FGF10
34 limb bud formation GO:0060174 9.73 FGFR2 FGF10
35 salivary gland morphogenesis GO:0007435 9.73 FGFR1 FGF10
36 positive regulation of keratinocyte proliferation GO:0010838 9.73 FGF7 FGF10
37 mesenchymal cell differentiation GO:0048762 9.73 FGFR2 FGFR1
38 osteoblast differentiation GO:0001649 9.73 TWIST1 SP7 RUNX2 COL1A1 BGLAP ALPL
39 response to gravity GO:0009629 9.72 FOSL1 BGLAP
40 outer ear morphogenesis GO:0042473 9.72 TWIST1 FGFR1
41 lung-associated mesenchyme development GO:0060484 9.72 FGFR2 FGFR1
42 organ induction GO:0001759 9.72 FGFR1 FGF8 FGF10
43 positive regulation of DNA-templated transcription, initiation GO:2000144 9.71 TWIST1 FOSL1
44 lacrimal gland development GO:0032808 9.71 FGFR2 FGF10
45 endochondral bone growth GO:0003416 9.71 FGFR3 FGFR2
46 bud elongation involved in lung branching GO:0060449 9.71 FGFR2 FGF10
47 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.7 RUNX2 FGF8
48 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.7 FGFR2 FGF7
49 epidermis morphogenesis GO:0048730 9.7 FGFR2 FGF10
50 positive regulation of phospholipase activity GO:0010518 9.7 FGFR3 FGFR2 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.71 FGFR2 FGFR1 FGF7 FGF10
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.61 FGFR3 FGFR2 FGFR1
3 chemoattractant activity GO:0042056 9.54 FGF8 FGF7 FGF10
4 fibroblast growth factor receptor binding GO:0005104 9.5 FGF8 FGF7 FGF10
5 platelet-derived growth factor binding GO:0048407 9.46 COL3A1 COL1A1
6 fibroblast growth factor binding GO:0017134 9.43 FGFR3 FGFR2 FGFR1
7 transmembrane signaling receptor activity GO:0004888 9.16 TNFRSF8 CR2
8 fibroblast growth factor-activated receptor activity GO:0005007 9.13 FGFR3 FGFR2 FGFR1
9 protein tyrosine kinase activity GO:0004713 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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