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PS
MCID: PFF001
MIFTS: 80

Pfeiffer Syndrome (PS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Infectious diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pfeiffer Syndrome

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MalaCards integrated aliases for Pfeiffer Syndrome:

Name: Pfeiffer Syndrome 58 42 12 77 54 26 60 76 38 30 13 56 6 15 41 74
Infectious Mononucleosis 42 12 56 44 3 45 15 17 74
Acs5 58 54 26 60 76
Craniofacial-Skeletal-Dermatologic Dysplasia 58 54 26 6
Acrocephalosyndactyly Type 5 54 60 76
Noack Syndrome 58 54 26
Acs V 58 26 76
Pfeiffer Type Acrocephalosyndactyly 54 74
Acrocephalosyndactyly, Type V 58 26
Pfeiffer Syndrome Type 3 60 30
Pfeiffer Syndrome Type 2 60 30
Dysplasia, Craniofacial-Skeletal-Dermatologic 41
Craniofacial-Skeletal-Dermatologic Syndrome 54
Acrocephalosyndactyly, Type V; Acs5 58
Gammaherpesviral Mononucleosis 12
Acrocephalosyndactylia Type V 12
Acrocephalosyndactyly, Type 5 54
Pfeiffer Syndrome, Type Iii 6
Classic Pfeiffer Syndrome 60
Pfeiffer Syndrome Variant 6
Pfeiffer Syndrome Type 1 60
Pfeiffer's Disease 12
Filatov's Disease 12
Monocytic Angina 12
Glandular Fever 12
Mononucleosis 12
Pfeiffer 17
Acsv 54
Ps 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
pfeiffer syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases Fetal diseases
Anatomical: Eye diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Pfeiffer Syndrome

About this section
OMIM : 58 Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome. (101600)

MalaCards based summary : Pfeiffer Syndrome, also known as infectious mononucleosis, is related to crouzon syndrome and jackson-weiss syndrome, 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 ERK Signaling and Class I MHC mediated antigen processing and presentation. The drugs Cisplatin and Gemcitabine have been mentioned in the context of this disorder. Affiliated tissues include bone, 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.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

MedlinePlus : 44 Infectious mononucleosis, or "mono", is an infection usually caused by the Epstein-Barr virus. The virus spreads through saliva, which is why it's sometimes called "kissing disease." Mono occurs most often in teens and young adults. However, you can get it at any age. Symptoms of mono include Fever Sore throat Swollen lymph glands Sometimes you may also have a swollen spleen. Serious problems are rare. A blood test can show if you have mono. Most people get better in two to four weeks. However, you may feel tired for a few months afterward. Treatment focuses on helping symptoms and includes medicines for pain and fever, warm salt water gargles and plenty of rest and fluids.

CDC : 3 0 0 0 0

UniProtKB/Swiss-Prot : 76 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 : 77 Pfeiffer syndrome is a very rare genetic disorder characterized by the premature fusion of certain bones... more...

Sources

Related Diseases for Pfeiffer Syndrome

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

(show top 50) (show all 478)
# Related Disease Score Top Affiliating Genes
1 crouzon syndrome 30.8 FGFR1 FGFR2 FGFR3
2 jackson-weiss syndrome 30.6 FGFR1 FGFR2 FGFR3
3 achondroplasia 30.3 FGFR1 FGFR2 FGFR3
4 craniosynostosis 30.2 FGF10 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
5 synostosis 30.2 FGFR1 FGFR2 FGFR3 TWIST1
6 ankylosis 30.0 BGLAP FGFR2 RUNX2 SP7
7 saethre-chotzen syndrome 30.0 BGLAP FGFR1 FGFR2 FGFR3 RUNX2 TWIST1
8 apert syndrome 29.5 FGF10 FGF7 FGFR1 FGFR2 FGFR3 TWIST1
9 muenke syndrome 29.2 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
10 lymphoproliferative syndrome, x-linked, 1 12.2
11 pfeiffer-palm-teller syndrome 12.2
12 pfeiffer kapferer syndrome 12.1
13 pfeiffer mayer syndrome 12.1
14 pfeiffer rockelein syndrome 12.1
15 pfeiffer tietze welte syndrome 12.1
16 mesomelia-synostoses syndrome 11.8
17 cardiocranial syndrome 11.7
18 cytomegalovirus infection 11.6
19 chronic active epstein-barr virus infection 11.6
20 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 11.6
21 cytomegalic inclusion disease 11.5
22 kleeblattschaedel 11.5
23 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.3
24 proteus syndrome 11.3
25 scott syndrome 11.3
26 preaxial polydactyly-colobomata-intellectual disability syndrome 11.2
27 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 11.2
28 post-transplant lymphoproliferative disease 11.2
29 salivary gland disease 11.2
30 neurological consequences of cytomegalovirus infection 11.2
31 polydactyly, preaxial ii 11.1
32 perlman syndrome 11.1
33 langer mesomelic dysplasia 11.1
34 ulna and fibula, hypoplasia of 11.0
35 pituitary hormone deficiency, combined, 3 11.0
36 nodular nonsuppurative panniculitis 11.0
37 lymphoproliferative syndrome, x-linked, 2 11.0
38 cmv antenatal infection 11.0
39 lymphoma 10.7
40 hepatitis 10.7
41 leukemia 10.6
42 hemolytic anemia 10.6
43 purpura 10.6
44 multiple sclerosis 10.5
45 thrombocytopenia 10.5
46 encephalitis 10.5
47 hemifacial hyperplasia 10.4 FGFR2 FGFR3
48 burkitt lymphoma 10.4
49 arthritis 10.4
50 acanthoma 10.4 FGF10 FGFR2

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



Diseases related to Pfeiffer Syndrome
Sources

Symptoms & Phenotypes for Pfeiffer Syndrome

About this section

Human phenotypes related to Pfeiffer Syndrome:

60 33 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 60 33 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000316
3 high palate 60 33 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000218
4 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
5 aqueductal stenosis 60 33 occasional (7.5%) Very frequent (99-80%),Frequent (79-30%),Occasional (29-5%) HP:0002410
6 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0005280
7 short nose 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0003196
8 broad hallux phalanx 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0010059
9 broad thumb 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0011304
10 laryngomalacia 60 33 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001601
11 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
12 cloverleaf skull 60 33 occasional (7.5%) Very frequent (99-80%) HP:0002676
13 respiratory distress 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002098
14 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001376
15 arnold-chiari malformation 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002308
16 high forehead 60 33 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000348
17 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0011800
18 proptosis 60 33 frequent (33%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0000520
19 short hallux 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0010109
20 tracheomalacia 60 33 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0002779
21 stenosis of the external auditory canal 60 33 hallmark (90%) Very frequent (99-80%) HP:0000402
22 brachyturricephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000244
23 aplasia/hypoplasia of the thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009601
24 hallux varus 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0008080
25 deviation of the thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009603
26 bicoronal synostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0011318
27 hypoplasia of the zygomatic bone 33 hallmark (90%) HP:0010669
28 low-set ears 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000369
29 finger syndactyly 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0006101
30 hydrocephalus 60 33 frequent (33%) Frequent (79-30%) HP:0000238
31 intellectual disability 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001249
32 seizures 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001250
33 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
34 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
35 short palm 60 33 frequent (33%) Frequent (79-30%) HP:0004279
36 short foot 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001773
37 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
38 small hand 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0200055
39 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
40 turricephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000262
41 choanal atresia 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000453
42 toe syndactyly 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001770
43 symphalangism affecting the phalanges of the hand 60 33 frequent (33%) Frequent (79-30%) HP:0009773
44 atresia of the external auditory canal 60 33 frequent (33%) Frequent (79-30%) HP:0000413
45 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
46 hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003307
47 mandibular prognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000303
48 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000365
49 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
50 increased intracranial pressure 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002516

Symptoms via clinical synopsis from OMIM:

58
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

Head And Neck Face:
maxillary hypoplasia
mandibular prognathism

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

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

Skeletal Limbs:
radiohumeral synostosis of elbow

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

Head And Neck Teeth:
dental crowding

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

Head And Neck Mouth:
high-arched palate

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

Skeletal Feet:
broad great toe

Clinical features from OMIM:

101600

UMLS symptoms related to Pfeiffer Syndrome:


fever, pruritus

MGI Mouse Phenotypes related to Pfeiffer Syndrome:

47 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.41 ALPL CD40LG COL1A1 CR2 FGF10 FGF7
2 immune system MP:0005387 10.39 ALPL CD40LG COL1A1 COL3A1 CR2 FGF10
3 cardiovascular system MP:0005385 10.38 ALPL CD40LG COL1A1 COL3A1 FGF10 FGF8
4 cellular MP:0005384 10.38 ALPL CD40LG COL1A1 COL3A1 FGF10 FGF8
5 growth/size/body region MP:0005378 10.37 ALPL COL1A1 COL3A1 FGF10 FGF7 FGF8
6 homeostasis/metabolism MP:0005376 10.37 ALPL CD40LG COL1A1 COL3A1 CR2 FGF10
7 mortality/aging MP:0010768 10.33 ALPL CD40LG COL1A1 COL3A1 CR2 FGF10
8 digestive/alimentary MP:0005381 10.28 ALPL COL1A1 COL3A1 FGF10 FGF8 FGFR1
9 endocrine/exocrine gland MP:0005379 10.27 ALPL CD40LG COL1A1 FGF10 FGF8 FGFR1
10 craniofacial MP:0005382 10.24 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
11 embryo MP:0005380 10.18 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
12 limbs/digits/tail MP:0005371 10.18 ALPL COL1A1 FGF10 FGF8 FGFR1 FGFR2
13 nervous system MP:0003631 10.18 ALPL CD40LG COL1A1 FGF10 FGF7 FGF8
14 integument MP:0010771 10.15 CD40LG COL1A1 COL3A1 FGF10 FGF7 FGFR1
15 adipose tissue MP:0005375 10.09 ALPL COL1A1 COL3A1 FGF10 FGFR2 TKT
16 muscle MP:0005369 10.09 ALPL COL1A1 COL3A1 FGF10 FGF8 FGFR1
17 hearing/vestibular/ear MP:0005377 10.02 COL1A1 FGF10 FGF8 FGFR1 FGFR2 FGFR3
18 renal/urinary system MP:0005367 10.02 CD40LG COL1A1 CR2 FGF10 FGF7 FGF8
19 reproductive system MP:0005389 10 ALPL CD40LG COL1A1 FGF10 FGF7 FGF8
20 normal MP:0002873 9.97 COL1A1 FGF10 FGF8 FGFR1 FGFR2 FGFR3
21 respiratory system MP:0005388 9.81 ALPL COL1A1 COL3A1 FGF10 FGF8 FGFR2
22 skeleton MP:0005390 9.77 ALPL CD40LG COL1A1 FGF10 FGF7 FGF8
23 vision/eye MP:0005391 9.28 COL1A1 FGF10 FGF7 FGF8 FGFR1 FGFR2
Sources

Drugs & Therapeutics for Pfeiffer Syndrome

About this section

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

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
2
Gemcitabine Approved Phase 3 95058-81-4 60750
3
Docetaxel Approved, Investigational Phase 2, Phase 3 114977-28-5 148124
4 Mitogens Phase 3,Phase 1,Phase 2
5 Immunosuppressive Agents Phase 3,Phase 1
6 Anti-Infective Agents Phase 3,Phase 1,Phase 2,Not Applicable
7 Immunologic Factors Phase 3,Phase 2,Phase 1
8 Antimetabolites Phase 3,Phase 1,Phase 2
9 Antiviral Agents Phase 3,Phase 1,Phase 2
10 Antimetabolites, Antineoplastic Phase 3,Phase 1,Phase 2
11 Antimitotic Agents Phase 2, Phase 3
12 Antibodies Phase 3,Phase 2,Phase 1
13 Immunoglobulins, Intravenous Phase 3
14 Rho(D) Immune Globulin Phase 3
15 gamma-Globulins Phase 3
16 Immunoglobulins Phase 3,Phase 2,Phase 1
17 Immunoglobulin G Phase 3
18
Ponatinib Approved, Investigational Phase 2 943319-70-8 24826799
19
Lenvatinib Approved, Investigational Phase 2 417716-92-8
20
Pembrolizumab Approved Phase 2 1374853-91-4
21
Azacitidine Approved, Investigational Phase 1, Phase 2 320-67-2 9444
22
Venetoclax Approved, Investigational Phase 1, Phase 2 1257044-40-8 49846579
23
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
24
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
25
Lenograstim Approved, Investigational Phase 2 135968-09-1
26
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
27
Valganciclovir Approved, Investigational Phase 2 175865-60-8 64147
28
Tofacitinib Approved, Investigational Phase 2 477600-75-2
29
Tyrosine Approved, Investigational, Nutraceutical Phase 1, Phase 2 60-18-4 6057
30 Pevonedistat Investigational Phase 1, Phase 2 905579-51-3
31 Liver Extracts Phase 2,Phase 1
32 Protein Kinase Inhibitors Phase 2
33 Endothelial Growth Factors Phase 2
34 Antibodies, Monoclonal Phase 2,Phase 1
35 Angiogenesis Inhibitors Phase 2
36 Antineoplastic Agents, Immunological Phase 2,Phase 1
37 valacyclovir Phase 1, Phase 2,Phase 2
38 Vaccines Phase 2
39 Anti-Inflammatory Agents Phase 2
40 Hormones Phase 2
41 Hormone Antagonists Phase 2
42 Antiemetics Phase 2,Phase 1
43
protease inhibitors Phase 2
44 Autonomic Agents Phase 2
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
46 Gastrointestinal Agents Phase 2
47 glucocorticoids Phase 2
48 HIV Protease Inhibitors Phase 2
49 Peripheral Nervous System Agents Phase 2
50 BB 1101 Phase 2

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 Phase 3 Study of BGJ398 (Oral Infigratinib) in First Line Cholangiocarcinoma With FGFR2 Gene Fusions/Translocations Recruiting NCT03773302 Phase 3 BGJ398;Gemcitabine;Cisplatin
2 A Study of Bemarituzumab (FPA144) Combined With Modified FOLFOX6 (mFOLFOX6) in Gastric/Gastroesophageal Junction Cancer (FIGHT) Recruiting NCT03694522 Phase 3 bemarituzumab (FPA144);Placebo;mFOLFOX6
3 Lung-MAP: AZD4547 as Second-Line Therapy in Treating FGFR Positive Patients With Recurrent Stage IV Squamous Cell Lung Cancer Active, not recruiting NCT02965378 Phase 2, Phase 3 Docetaxel;FGFR Inhibitor AZD4547
4 Acupuncture for Infectious Mononucleosis Trial Completed NCT00598988 Phase 2, Phase 3
5 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Active, not recruiting NCT01376778 Phase 3 CMV hyperimmune globulin
6 Derazantinib in Subjects With FGFR2 Gene Fusion Positive Inoperable or Advanced Intrahepatic Cholangiocarcinoma Recruiting NCT03230318 Phase 2 derazantinib
7 A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma Recruiting NCT02150967 Phase 2 BGJ398 (infigratinib)
8 Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic Alterations Completed NCT01752920 Phase 1, Phase 2 ARQ 087
9 A Study of TAS-120 in Patients With Advanced Solid Tumors Recruiting NCT02052778 Phase 1, Phase 2 TAS-120
10 Dovitinib for Gastric Cancer With FGFR2 Amplification Completed NCT01719549 Phase 2 Dovitinib
11 A Study of Pemigatinib in Non-muscle Invasive Bladder Cancer Patients With Recurrent Low- or Intermediate-Risk Tumors Not yet recruiting NCT03914794 Phase 2 Pemigatinib
12 Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 Fusions Active, not recruiting NCT02265341 Phase 2 Ponatinib Hydrochloride
13 Study of Ponatinib (Iclusig) for Prevention of Relapse After Allogeneic Stem Cell Transplantation (Allo-SCT) in FLT3-ITD AML Patients Not yet recruiting NCT03690115 Phase 2 Ponatinib 30 MG
14 Lenvatinib Combined Pembrolizumab in Advanced Hepatobiliary Tumors Not yet recruiting NCT03895970 Phase 2 Lenvatinib plus Pembrolizumab
15 pazopanib_NCRCC,Ph2 STUDY Completed NCT01538238 Phase 2 pazopanib
16 BGJ398 in Treating Patients With FGFR Positive Recurrent Head and Neck Cancer Terminated NCT02706691 Phase 2 BGJ398
17 Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03210714 Phase 2 Erdafitinib
18 Azacitidine, Venetoclax, and Pevonedistat in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia Recruiting NCT03862157 Phase 1, Phase 2 Azacitidine;Pevonedistat;Venetoclax
19 Activity of Valomaciclovir in Infectious Mononucleosis Due to Primary Epstein-Barr Virus Infection Completed NCT00575185 Phase 1, Phase 2 Valomaciclovir;placebo
20 Controlled Trial of Valacyclovir in Infectious Mononucleosis Completed NCT00274404 Phase 1, Phase 2 valacyclovir
21 Evaluation of Safety, Immune-Response and Efficacy of GSK Biologicals’ EBV (Epstein Barr Virus) Vaccine (268664). Completed NCT00430534 Phase 2
22 Accelerated Immunization to Induce Cytomegalovirus Immunity in Stem Cell Donors Completed NCT00353977 Phase 2
23 Carboplatin and Docetaxel Followed by Epstein-Barr Virus Cytotoxic T Lymphocytes Completed NCT00953420 Phase 2 Docetaxel;Carboplatin;Dexamethasone
24 ValGanciclovir Versus ValAcyclovir for Viral Prophylaxis in Kidney Transplantation Recruiting NCT01972035 Phase 2 Valacyclovir;Valganciclovir
25 A Open-Label Study Of CP-690,550 As Long-Term Therapy (48 Weeks) In Subjects With Crohn's Disease Completed NCT01470599 Phase 2 CP-690,550;CP-690,550
26 Phase I, Dose-escalation Trial of BAY1187982 in Subjects With Advanced Solid Tumors Known to Express Fibroblast Growth Factor Receptor 2 (FGFR2) Terminated NCT02368951 Phase 1 BAY1187982
27 Nivolumab With Epstein Barr Virus Specific T Cells (EBVSTS), Relapsed/Refractory EBV Positive Lymphoma (PREVALE) Recruiting NCT02973113 Phase 1
28 TGF-beta Resistant Cytotoxic T-lymphocytes in Treatment of EBV-positive Nasopharyngeal Carcinoma / RESIST-NPC Active, not recruiting NCT02065362 Phase 1
29 Administration of TAA-Specific CTLs; Hodgkin or Non-Hodgkin Lymphoma; TACTAL Recruiting NCT01333046 Phase 1
30 Cytotoxic T Cells to Treat Relapsed EBV-positive Lymphoma Recruiting NCT01956084 Phase 1 LMP1/2 CTLs (Group A);LMP1/2 CTLs (Group B)
31 T-Lymphocytes in Treating Patients With Epstein-Barr Virus-Positive Nasopharyngeal Cancer, NPC Completed NCT00609219 Phase 1
32 Most Closely HLA-Matched CTLs for Relapsed Epstein Barr Virus(EBV)-Associated Diseases Active, not recruiting NCT01447056 Phase 1
33 Giving Gene Marked EBV Specific T-Cells to Patients Receiving a BMT for Relapsed EBV-Positive Hodgkin Disease Terminated NCT00058773 Phase 1 Infusion of EBV Specific Cytotoxic T-Lymphocytes
34 LMP1- and LMP2-Specific CTLs to Patients With EBV-Positive NPC (NATELLA) Completed NCT00516087 Phase 1
35 EBV CTLs Expressing CD30 Chimeric Receptors For CD 30+ Lymphoma Active, not recruiting NCT01192464 Phase 1 autologous CAR.CD30 EBV specific-CTLs
36 Epstein Barr Virus (EBV) Specific Cytotoxic T-Cells, Relapsed Lymphoma, ANGEL Completed NCT00058617 Phase 1
37 Lmp1 and Lmp2 Specific CTLs Following Cd45 Antibody for Relapsed Ebv-Positive Hodgkin's Or Non-Hodgkin's Lymphoma Terminated NCT00383097 Phase 1
38 T-cells or EBV Specific CTLs, Advanced B-Cell NHL and CLL Active, not recruiting NCT00709033 Phase 1
39 LMP-specific T-cells for Patients With Relapsed EBV-positive Lymphoma Active, not recruiting NCT00062868 Phase 1
40 LMP2a-Specific Cytotoxic T-Lymphocytes, Lymphoma (ACDAL) Terminated NCT00082225 Phase 1
41 Blood T-Cells and EBV Specific CTLs Expressing GD-2 Specific Chimeric T Cell Receptors to Neuroblastoma Patients Active, not recruiting NCT00085930 Phase 1
42 Treating Severe Chronic Epstein-Barr Virus (EBV) Infection With EBV Specific Cytotoxic T Lymphocytes (CTLs) Completed NCT00058591 Phase 1
43 Most Closely Matched 3rd Party Rapidly Generated LMP, BARF1 And EBNA1 Specific CTL, EBV-Positive Lymphoma (MABEL) Recruiting NCT02287311 Phase 1 Cyclophosphamide;Fludarabine
44 Cytotoxic T-Lymphocytes for EBV-positive Lymphoma, GRALE Recruiting NCT01555892 Phase 1
45 Administration of Rapidly Generated Multivirus-specific Cytotoxic T-Lymphocytes (VIRAGE) Completed NCT01070797 Phase 1
46 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
47 HIV Indicator Diseases Across Europe Study Unknown status NCT01681706
48 Observing the Relationship of Fibroblast Growth Factor and Fibroblast in Thyroid Eye Disease Recruiting NCT03324022
49 Molecular and Structural Comparison of Hypospadic and Normal Children Prepuces Recruiting NCT03838458
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

Sources

Genetic Tests for Pfeiffer Syndrome

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Genetic tests related to Pfeiffer Syndrome:

# Genetic test Affiliating Genes
1 Pfeiffer Syndrome 30 FGFR1 FGFR2
2 Pfeiffer Syndrome Type 3 30
3 Pfeiffer Syndrome Type 2 30
Sources

Anatomical Context for Pfeiffer Syndrome

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MalaCards organs/tissues related to Pfeiffer Syndrome:

42
Bone, Testes, T Cells, Spleen, B Cells, Monocytes, Eye

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

20
Skull
Sources

Publications for Pfeiffer Syndrome

About this section

Articles related to Pfeiffer Syndrome:

(show top 50) (show all 2782)
# Title Authors Year
1
Overcorrected Midface Advancement to Improve Airway Problems in Severe Pfeiffer Syndrome Types II and III. ( 30444777 )
2019
2
Correcting Exorbitism by Monobloc Frontofacial Advancement in Crouzon-Pfeiffer Syndrome: An Age-Specific, Time-Related, Controlled Study. ( 30589795 )
2019
3
Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review. ( 31002276 )
2019
4
Infectious mononucleosis - not always a benign condition: a case report of infectious mononucleosis-associated acute acalculous cholecystitis. ( 29490709 )
2019
5
Detection and virulence potential of a phospholipase D-negative Corynebacterium ulcerans from a concurrent diphtheria and infectious mononucleosis case. ( 30771116 )
2019
6
Cervical necrotising fasciitis: a rare complication of infectious mononucleosis. ( 30826780 )
2019
7
Cold type autoimmune hemolytic anemia- a rare manifestation of infectious mononucleosis; serum ferritin as an important biomarker. ( 30658594 )
2019
8
THE VALUE OF QUANTITY OF STREPTOCOCCI ON THE NASAL AND OROPHARYNGEAL MUCOSA ON THE FORMATION OF THE CELLULAR IMMUNITY IN CHILDREN WITH INFECTIOUS MONONUCLEOSIS. ( 30958289 )
2019
9
Apoptotic lymphocytes on peripheral smear and positional parameter values (VCS data) can suggest a diagnosis of infectious mononucleosis. ( 30887858 )
2019
10
A Validated Scale for Assessing the Severity of Acute Infectious Mononucleosis. ( 30853204 )
2019
11
Revisiting the Tissue Microenvironment of Infectious Mononucleosis: Identification of EBV Infection in T Cells and Deep Characterization of Immune Profiles. ( 30842768 )
2019
12
Epstein-Barr VIRUS latent gene EBNA-1 genetic diversity among transplant patients compared with patients with infectious mononucleosis. ( 30790353 )
2019
13
Clinical differentiation of infectious mononucleosis that is caused by Epstein-Barr virus or cytomegalovirus: A single-center case-control study in Japan. ( 30773381 )
2019
14
Serum amyloid A protein in the course of infectious mononucleosis. ( 30719287 )
2019
15
Infectious mononucleosis: be aware of its lethality! ( 30645196 )
2019
16
Sensitization to amoxicillin/clavulanic acid may underlie severe rashes in children treated for infectious mononucleosis. ( 30009989 )
2019
17
Minimally Invasive Hallux Interphalangeal Joint Arthrodesis for Hallux Varus in Pfeiffer Syndrome: A Case Report. ( 29103889 )
2018
18
Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis. ( 29436723 )
2018
19
Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review. ( 29782338 )
2018
20
A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality. ( 29915381 )
2018
21
Ultrasound diagnosis of tracheal cartilaginous sleeve in a patient with Pfeiffer syndrome. ( 30022259 )
2018
22
Fatal Septic Shock in a Patient with Hemophagocytic Lymphohistiocytosis Associated with an Infectious Mononucleosis. ( 30356381 )
2018
23
Acute mediastinitis as a rare complication of an infectious mononucleosis. ( 29269099 )
2018
24
Fulminant descending mediastinitis secondary to infectious mononucleosis. ( 30093999 )
2018
25
Infectious Mononucleosis and Lyme Disease as Confounding Diagnoses: A Report of 2 Cases. ( 30166498 )
2018
26
Infectious mononucleosis. ( 30358681 )
2018
27
How Safe is It to Prescribe Cephalosporins in Patients with Infectious Mononucleosis? Implications for Clinical ENT Practice. ( 30319879 )
2018
28
Spontaneously Ruptured Spleen Samples in Patients With Infectious Mononucleosis: Analysis of Histology and Lymphoid Subpopulations. ( 30007337 )
2018
29
Fever of unknown origin (FUO): CMV infectious mononucleosis or lymphoma? ( 29679253 )
2018
30
Letter to the Editor: Infectious Mononucleosis and Cholestatic Hepatitis. ( 29573774 )
2018
31
Multiple Pulmonary Nodules in an Immunocompetent Adolescent with Infectious Mononucleosis. ( 29503273 )
2018
32
Infectious mononucleosis and hepatic function. ( 29456696 )
2018
33
What Elements Suggest Infectious Mononucleosis? ( 28712603 )
2018
34
Splenic infarction associated with acute infectious mononucleosis. ( 28480876 )
2018
35
Splenic Infarction: An Under-recognized Complication of Infectious Mononucleosis? ( 29577060 )
2018
36
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. ( 27762162 )
2017
37
A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome. ( 28815901 )
2017
38
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia. ( 28600064 )
2017
39
Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis. ( 28845899 )
2017
40
Pancreatitis Combined with Epstein-Barr Virus-induced Infectious Mononucleosis. ( 28776557 )
2017
41
Unexplained Dyspnea in a Young Adult with Epstein-Barr Virus Infectious Mononucleosis: Pulmonary Involvement or Co-Infection with Mycoplasma pneumoniae Pneumonia? ( 28869530 )
2017
42
Infectious mononucleosis lymphadenitis resembling Kikuchi's disease: Cytological, histopathological, and immunohistological findings. ( 28331133 )
2017
43
Acute Atraumatic Splenic Hemorrhage: Babesiosis or Acute Infectious Mononucleosis. ( 28347760 )
2017
44
Immuno complex mediated acute glomerulonephritis in a patient with infectious mononucleosis. ( 28750880 )
2017
45
Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D. ( 28848550 )
2017
46
Dynamics of Viral and Host Immune Cell MicroRNA Expression during Acute Infectious Mononucleosis. ( 29379474 )
2017
47
Low uric acid level increases the risk of infectious mononucleosis and this effect is more pronounced in women. ( 29285370 )
2017
48
Severity of Acute Infectious Mononucleosis Correlates with Cross-Reactive Influenza CD8 T-Cell Receptor Repertoires. ( 29208744 )
2017
49
Traumatic Haemorrhagic Cervical Lymphadenopathy with Underlying Infectious Mononucleosis. ( 29181217 )
2017
50
Season of infectious mononucleosis as a risk factor for multiple sclerosis: A UK primary care case-control study. ( 29055437 )
2017
Sources

Variations for Pfeiffer Syndrome

About this section

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

76 (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
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

ClinVar genetic disease variations for Pfeiffer Syndrome:

6 (show top 50) (show all 365)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs121918487 GRCh37 Chromosome 10, 123276892: 123276892
2 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs121918487 GRCh38 Chromosome 10, 121517378: 121517378
3 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
4 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh38 Chromosome 10, 121517379: 121517379
5 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
6 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh38 Chromosome 10, 121517379: 121517379
7 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh37 Chromosome 10, 123276885: 123276885
8 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh38 Chromosome 10, 121517371: 121517371
9 FGFR2 NM_000141.4(FGFR2): c.1021A> C (p.Thr341Pro) single nucleotide variant Pathogenic rs121918495 GRCh38 Chromosome 10, 121517382: 121517382
10 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh37 Chromosome 10, 123279566: 123279566
11 FGFR2 NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic rs79184941 GRCh37 Chromosome 10, 123279677: 123279677
12 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh38 Chromosome 10, 121520052: 121520052
13 FGFR2 NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic rs79184941 GRCh38 Chromosome 10, 121520163: 121520163
14 FGFR2 NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg) single nucleotide variant Pathogenic rs77543610 GRCh37 Chromosome 10, 123279674: 123279674
15 FGFR2 NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg) single nucleotide variant Pathogenic rs77543610 GRCh38 Chromosome 10, 121520160: 121520160
16 FGFR2 NM_000141.4(FGFR2): c.1021A> C (p.Thr341Pro) single nucleotide variant Pathogenic rs121918495 GRCh37 Chromosome 10, 123276896: 123276896
17 FGFR2 NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys) single nucleotide variant Pathogenic rs121913478 GRCh37 Chromosome 10, 123274794: 123274794
18 FGFR2 NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys) single nucleotide variant Pathogenic rs121913478 GRCh38 Chromosome 10, 121515280: 121515280
19 FGFR2 NM_000141.4(FGFR2): c.755_757delCGCinsTCT (p.Ser252_Pro253delinsPheSer) indel Pathogenic rs281865420 GRCh37 Chromosome 10, 123279675: 123279677
20 FGFR2 NM_000141.4(FGFR2): c.755_757delCGCinsTCT (p.Ser252_Pro253delinsPheSer) indel Pathogenic rs281865420 GRCh38 Chromosome 10, 121520161: 121520163
21 FGFR2 NM_000141.4(FGFR2): c.870G> C (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh37 Chromosome 10, 123279562: 123279562
22 FGFR2 NM_000141.4(FGFR2): c.870G> C (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh38 Chromosome 10, 121520048: 121520048
23 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 GRCh37 Chromosome 10, 123276865: 123276865
24 FGFR2 NM_000141.4(FGFR2): c.1052C> G (p.Ser351Cys) single nucleotide variant Pathogenic rs121918502 GRCh38 Chromosome 10, 121517351: 121517351
25 FGFR2 NM_000141.4(FGFR2): c.817_819delGAC (p.Asp273del) deletion Pathogenic rs121918503 GRCh37 Chromosome 10, 123279613: 123279615
26 FGFR2 NM_000141.4(FGFR2): c.817_819delGAC (p.Asp273del) deletion Pathogenic rs121918503 GRCh38 Chromosome 10, 121520099: 121520101
27 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh37 Chromosome 10, 123279633: 123279633
28 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh38 Chromosome 10, 121520119: 121520119
29 FGFR2 NM_000141.4(FGFR2): c.940-1G> A single nucleotide variant Pathogenic rs879253719 GRCh37 Chromosome 10, 123276978: 123276978
30 FGFR2 NM_000141.4(FGFR2): c.940-1G> A single nucleotide variant Pathogenic rs879253719 GRCh38 Chromosome 10, 121517464: 121517464
31 FGFR2 NM_000141.4(FGFR2): c.940-3_946delinsACC indel Pathogenic
32 FGFR2 NM_000141.4(FGFR2): c.870G> T (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh37 Chromosome 10, 123279562: 123279562
33 FGFR2 NM_000141.4(FGFR2): c.870G> T (p.Trp290Cys) single nucleotide variant Pathogenic rs121918499 GRCh38 Chromosome 10, 121520048: 121520048
34 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Likely pathogenic rs121918506 GRCh37 Chromosome 10, 123256215: 123256215
35 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Likely pathogenic rs121918506 GRCh38 Chromosome 10, 121496701: 121496701
36 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 GRCh38 Chromosome 10, 121517316: 121517316
37 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 GRCh37 Chromosome 10, 123276830: 123276830
38 FGFR2 NM_000141.4(FGFR2): c.962A> C (p.Asp321Ala) single nucleotide variant Pathogenic rs121918510 GRCh37 Chromosome 10, 123276955: 123276955
39 FGFR2 NM_000141.4(FGFR2): c.962A> C (p.Asp321Ala) single nucleotide variant Pathogenic rs121918510 GRCh38 Chromosome 10, 121517441: 121517441
40 FGFR1 NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg) single nucleotide variant Pathogenic rs121909627 GRCh37 Chromosome 8, 38282208: 38282208
41 FGFR1 NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg) single nucleotide variant Pathogenic rs121909627 GRCh38 Chromosome 8, 38424690: 38424690
42 FGFR1 NM_023110.2(FGFR1): c.899T> C (p.Ile300Thr) single nucleotide variant Uncertain significance rs121909633 GRCh37 Chromosome 8, 38282064: 38282064
43 FGFR1 NM_023110.2(FGFR1): c.899T> C (p.Ile300Thr) single nucleotide variant Uncertain significance rs121909633 GRCh38 Chromosome 8, 38424546: 38424546
44 FGFR1 NM_023110.2(FGFR1): c.1097C> T (p.Pro366Leu) single nucleotide variant Likely pathogenic rs121909641 GRCh37 Chromosome 8, 38277238: 38277238
45 FGFR1 NM_023110.2(FGFR1): c.1097C> T (p.Pro366Leu) single nucleotide variant Likely pathogenic rs121909641 GRCh38 Chromosome 8, 38419720: 38419720
46 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh37 Chromosome 10, 123353315: 123353315
47 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh38 Chromosome 10, 121593801: 121593801
48 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh37 Chromosome 10, 123325158: 123325158
49 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh38 Chromosome 10, 121565644: 121565644
50 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh37 Chromosome 10, 123279482: 123279482
Sources

Expression for Pfeiffer Syndrome

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Search GEO for disease gene expression data for Pfeiffer Syndrome.
Sources

Pathways for Pfeiffer Syndrome

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Pathways related to Pfeiffer Syndrome according to GeneCards Suite gene sharing:

(show all 46)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 65
Show member pathways
 13.87 CD40LG COL1A1 COL3A1 FGF10 FGF7 FGF8
2
Class I MHC mediated antigen processing and presentation 67
Show member pathways
 13.46 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
3
Akt Signaling 65
Show member pathways
 13.41 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
4
Cytokine Signaling in Immune system 67
Show member pathways
 13.35 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
5
PAK Pathway 65
Show member pathways
 13.31 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
6
p70S6K Signaling 65
Show member pathways
 13.05 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
7
Phospholipase-C Pathway 65
Show member pathways
 13.03 COL1A1 COL3A1 FGF10 FGF7 FGF8 FGFR1
8
PI3K-Akt signaling pathway 38
Show member pathways
 13 COL1A1 FGF10 FGF7 FGF8 FGFR1 FGFR2
9
Downstream signaling of activated FGFR2 67
Show member pathways
 12.88 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
10
Pathways in cancer 38
12.85 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
11
Gastric cancer 38
Show member pathways
 12.75 FGF10 FGF7 FGF8 FGFR1 FGFR2
12
Ras signaling pathway 38
Show member pathways
 12.75 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
13
Downstream signaling events of B Cell Receptor (BCR) 67
Show member pathways
 12.74 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
14
Glioma 38
Show member pathways
 12.71 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
15
MAPK signaling pathway 1 38
12.69 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
16
Regulation of actin cytoskeleton 38 1
12.64 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
17
NF-KappaB Family Pathway 65
Show member pathways
 12.53 CD40LG FGF10 FGF7 FGF8 FGFR1 FGFR2
18
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.42 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
19
Development FGFR signaling pathway 23
Show member pathways
 12.41 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
20
RhoGDI Pathway 65
Show member pathways
 12.29 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
21
mTOR signalling 67
Show member pathways
 12.28 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
22
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.26 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
23
VEGF Signaling Pathway 68 62
Show member pathways
 12.24 COL1A1 FGFR1 FGFR2 FGFR3
24
Tyrosine Kinases / Adaptors 4
12.14 FGFR1 FGFR2 FGFR3 SH2D1A
25
Immune response IFN gamma signaling pathway 23
Show member pathways
 12.09 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
26
Signaling by FGFR2 67
Show member pathways
 12.02 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
27
Parathyroid hormone synthesis, secretion and action 38
11.9 BGLAP FGFR1 RUNX2
28
Signaling by FGFR2 in disease 67
Show member pathways
 11.83 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
29
Angiogenesis (CST) 4
11.82 FGFR1 FGFR2 FGFR3
30
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.82 FGF10 FGF8 FGFR1 FGFR3
31
G-protein signaling_RhoA regulation pathway 23
11.73 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
32
Neural Crest Differentiation 1
11.73 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
33
Endochondral Ossification 1
11.7 ALPL FGFR1 FGFR3 RUNX2
34
Central carbon metabolism in cancer 38
11.67 FGFR1 FGFR2 FGFR3
35
T Cell Co-Signaling Pathway: Ligand-Receptor Interactions 66
11.63 CD40LG COL3A1 SLAMF1 TNFRSF8
36
B Cell Development Pathways 66
11.57 CD40LG CR2 SLAMF1 TNFRSF8
37
Notch-mediated HES/HEY network 1
11.53 BGLAP RUNX2 TWIST1
38
Alzheimers Disease Pathway 65
11.5 FGFR1 FGFR2 FGFR3
39
FGF signaling pathway 1
11.48 BGLAP FGFR1 FGFR2 RUNX2
40
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.45 BGLAP COL1A1 FOSL1 RUNX2
41
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
11.43 BGLAP COL1A1 RUNX2
42
Vemurafenib Pathway, Pharmacodynamics 62
11.39 FGF7 FGFR1 FGFR2 FGFR3
43
Inflammatory Response Pathway 1
11.35 CD40LG COL1A1 COL3A1
44
Osteoblast Signaling 1
10.84 BGLAP COL1A1
45
Cytoskeleton remodeling_RalB regulation pathway 23
10.58 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
46
G-protein signaling_Rap2B regulation pathway 23
10.18 CD40LG COL1A1 COL3A1 FGF10 FGF7 FGF8
Sources

GO Terms for Pfeiffer Syndrome

About this section

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 CR2 FGFR1 FGFR2 FGFR3
2 extracellular region GO:0005576 9.4 ALPL BGLAP CD40LG COL1A1 COL3A1 FGF10
3 extracellular matrix GO:0031012 9.13 ALPL COL1A1 COL3A1

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 9.98 FGF10 FGF8 RUNX2 TWIST1
2 positive regulation of MAPK cascade GO:0043410 9.97 FGF10 FGFR1 FGFR2 FGFR3
3 MAPK cascade GO:0000165 9.97 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
4 response to organic cyclic compound GO:0014070 9.96 BGLAP FGF10 FGF8 FOSL1
5 platelet activation GO:0030168 9.92 CD40LG COL1A1 COL3A1
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.92 FGF10 FGF8 FGFR2 FGFR3 SLAMF1
7 positive regulation of canonical Wnt signaling pathway GO:0090263 9.91 COL1A1 FGF10 FGFR2
8 wound healing GO:0042060 9.91 COL1A1 COL3A1 FGF10 FGFR2
9 lung development GO:0030324 9.91 FGF10 FGF8 FGFR1 FGFR2
10 positive regulation of cell proliferation GO:0008284 9.91 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
11 ossification GO:0001503 9.9 BGLAP COL1A1 RUNX2 TWIST1
12 response to mechanical stimulus GO:0009612 9.89 BGLAP COL1A1 COL3A1 FOSL1
13 positive regulation of cell cycle GO:0045787 9.88 FGFR1 FGFR2 FOSL1
14 inner ear morphogenesis GO:0042472 9.88 FGF10 FGF8 FGFR1 FGFR2
15 positive regulation of epithelial cell proliferation GO:0050679 9.88 FGF10 FGF7 FGFR2 TWIST1
16 bone development GO:0060348 9.87 BGLAP FGF8 FGFR2 TWIST1
17 positive chemotaxis GO:0050918 9.86 FGF10 FGF7 FGF8
18 positive regulation of cell division GO:0051781 9.86 FGF7 FGF8 FGFR2
19 bone mineralization GO:0030282 9.85 BGLAP FGFR2 FGFR3
20 chondrocyte differentiation GO:0002062 9.85 FGFR1 FGFR3 RUNX2
21 negative regulation of apoptotic process GO:0043066 9.85 CD40LG FGF8 TWIST1
22 skeletal system morphogenesis GO:0048705 9.85 COL1A1 FGFR1 FGFR2 RUNX2
23 positive regulation of protein kinase B signaling GO:0051897 9.85 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
24 embryonic cranial skeleton morphogenesis GO:0048701 9.83 FGFR2 RUNX2 TWIST1
25 digestive tract development GO:0048565 9.83 COL3A1 FGF10 FGFR2
26 osteoblast differentiation GO:0001649 9.8 ALPL BGLAP COL1A1 RUNX2 SP7 TWIST1
27 hair follicle morphogenesis GO:0031069 9.79 FGF10 FGF7 FGFR2
28 odontogenesis GO:0042476 9.78 BGLAP FGF8 FGFR2 TWIST1
29 endochondral ossification GO:0001958 9.76 ALPL COL1A1 FGFR3 RUNX2
30 regulation of osteoblast differentiation GO:0045667 9.74 FGFR2 RUNX2
31 generation of neurons GO:0048699 9.74 FGF8 FGFR1
32 mesonephros development GO:0001823 9.74 FGF10 FGF8
33 organ growth GO:0035265 9.73 FGF10 FGFR2
34 positive regulation of keratinocyte migration GO:0051549 9.73 FGF10 FGF7
35 limb bud formation GO:0060174 9.73 FGF10 FGFR2
36 mesenchymal cell differentiation GO:0048762 9.73 FGFR1 FGFR2
37 positive regulation of keratinocyte proliferation GO:0010838 9.73 FGF10 FGF7
38 salivary gland morphogenesis GO:0007435 9.73 FGF10 FGFR1
39 organ induction GO:0001759 9.73 FGF10 FGF8 FGFR1
40 outer ear morphogenesis GO:0042473 9.72 FGFR1 TWIST1
41 response to gravity GO:0009629 9.72 BGLAP FOSL1
42 lung-associated mesenchyme development GO:0060484 9.72 FGFR1 FGFR2
43 bud elongation involved in lung branching GO:0060449 9.71 FGF10 FGFR2
44 endochondral bone growth GO:0003416 9.71 FGFR2 FGFR3
45 lacrimal gland development GO:0032808 9.71 FGF10 FGFR2
46 positive regulation of DNA-templated transcription, initiation GO:2000144 9.71 FOSL1 TWIST1
47 positive regulation of phospholipase activity GO:0010518 9.71 FGFR1 FGFR2 FGFR3
48 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.7 FGFR2 RUNX2
49 epidermis morphogenesis GO:0048730 9.7 FGF10 FGFR2
50 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.7 FGF7 FGFR2

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 FGF10 FGF7 FGFR1 FGFR2
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.61 FGFR1 FGFR2 FGFR3
3 chemoattractant activity GO:0042056 9.54 FGF10 FGF7 FGF8
4 fibroblast growth factor receptor binding GO:0005104 9.5 FGF10 FGF7 FGF8
5 platelet-derived growth factor binding GO:0048407 9.46 COL1A1 COL3A1
6 fibroblast growth factor binding GO:0017134 9.43 FGFR1 FGFR2 FGFR3
7 transmembrane signaling receptor activity GO:0004888 9.33 CR2 SLAMF1 TNFRSF8
8 fibroblast growth factor-activated receptor activity GO:0005007 9.13 FGFR1 FGFR2 FGFR3
9 protein tyrosine kinase activity GO:0004713 8.8 FGFR1 FGFR2 FGFR3
Sources

Sources for Pfeiffer Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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70 SNOMED-CT via HPO
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73 Tocris
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75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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