MCID: PFF001
MIFTS: 74

Pfeiffer Syndrome malady

Genetic diseases, Rare diseases, Infectious diseases, Eye diseases, Bone diseases, Fetal diseases, Oral diseases, Skin diseases, Endocrine diseases categories

Aliases & Classifications for Pfeiffer Syndrome

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Sources:
46OMIM, 31MalaCards, 8Disease Ontology, 9diseasecard, 64Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 32MedlinePlus, 2CDC, 61UMLS, 56SNOMED-CT, 27ICD9CM, 33MeSH, 39NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Aliases & Descriptions for Pfeiffer Syndrome:

Name: Pfeiffer Syndrome 46 31 8 9 64 42 21 44 48 61
Infectious Mononucleosis 31 8 10 44 32 2 61
Acs5 42 21 48
Craniofacial-Skeletal-Dermatologic Dysplasia 46 21
Pfeiffer Type Acrocephalosyndactyly 42 61
Acrocephalosyndactyly, Type V 64 21
Pfeiffer's Disease 8 22
Noack Syndrome 64 21
Acrocephalopolysyndactyly Type Iv 61
 
Gammaherpesviral Mononucleosis 8
Acrocephalosyndactylia Type V 8
Acrocephalosyndactyly, Type 5 42
Acrocephalosyndactyly Type 5 48
Filatov's Disease 8
Monocytic Angina 8
Glandular Fever 8
Mononucleosis 8
Acs V 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
pfeiffer syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age


External Ids:

OMIM46 101600
Disease Ontology8 DOID:8568, DOID:14705
ICD9CM27 075
NCIt39 C34726
Orphanet48 710
MESH via Orphanet34 C538582
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet62 C2931888
ICD1025 B27, B27.0

Summaries for Pfeiffer Syndrome

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OMIM:46 Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and... (101600) more...

MalaCards based summary: Pfeiffer Syndrome, also known as infectious mononucleosis, is related to crouzon syndrome and achondroplasia, and has symptoms including ptosis, abnormality of thumb phalanx and cheekbone underdevelopment. An important gene associated with Pfeiffer Syndrome is FGFR2 (fibroblast growth factor receptor 2), and among its related pathways are Akt Signaling Pathway and VEGF Signaling Pathway. The compounds su 5402 and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include pharynx, bone and eye, and related mouse phenotypes are adipose tissue and hearing/vestibular/ear.

Disease Ontology:8 A viral infectious disease that results in inflammation, located in pharynx, has material basis in human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.

Genetics Home Reference:21 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:42 Pfeiffer syndrome is a disorder that affects 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. the syndrome is divided into 3 subtypes (types 1, 2 and 3) based on the presence and severity of signs and symptoms. management typically includes various surgical interventions. last updated: 7/25/2014

MedlinePlus:32 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:2 Epstein-Barr virus, or EBV, is one of the most common human viruses in the world. It spreads primarily through saliva. EBV can cause infectious mononucleosis, also called mono, and other illnesses. Most people will get infected with EBV in their lifetime and will not have any symptoms. Mono caused by EBV is most common among teens and adults…

Wikipedia:64 Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of... more...

Related Diseases for Pfeiffer Syndrome

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Diseases in the Pfeiffer Syndrome family:

Pfeiffer Syndrome Type 1, 2 and 3 Pfeiffer Syndrome Type 1
Pfeiffer Syndrome Type 3

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

(show top 50)    (show all 273)
idRelated DiseaseScoreTop Affiliating Genes
1crouzon syndrome30.8FGFR1, FGFR3, FGFR2
2achondroplasia30.8FGFR3, FGFR2
3nasopharyngeal carcinoma30.4FGFR1, TKT, TWIST1
4saethre-chotzen syndrome30.3FGFR3, FGFR1, FGFR2, TWIST1, BGLAP
5secondary syphilis30.2ALPL, RUNX2, BGLAP
6breast cancer30.1FGF7, FGF8, FGFR2, TWIST1, FGFR1, FGF10
7leukemia30.0FGFR1, FGF7, FGFR2, TKT, ALPL, RUNX2
8craniosynostosis30.0TWIST1, FGFR2, ALPL, RUNX2, FGF8, FGF10
9rheumatoid arthritis29.9RUNX2, FGF7, TKT, BGLAP
10hepatitis10.7
11beare-stevenson cutis gyrata syndrome10.6FGFR2
12osteoglophonic dysplasia10.6FGFR1
13tonsillitis10.6
14antley-bixler syndrome10.5FGFR2
15osteochondroma10.5FGFR3
16thanatophoric dysplasia, type i10.5FGFR3, FGFR2
17hypophosphatasia10.4ALPL
18winkelman bethge pfeiffer syndrome10.4
19pfeiffer syndrome type 110.4
20pfeiffer syndrome type 310.4
21paget disease of bone10.4ALPL
22hodgkin lymphoma10.4
23splenic infarction10.4
24chronic fatigue syndrome10.4
25prostatic hypertrophy10.4FGFR2, FGFR1
26strabismus10.4FGFR3, FGFR2
27gliosarcoma10.4TKT
28acanthosis nigricans10.4FGFR3, FGFR2
29hemolytic anemia10.4
30thrombocytopenia10.4
31nasopharyngitis10.4
32agammaglobulinemia10.4
33myocarditis10.4
34pneumonia10.4
35virus associated hemophagocytic syndrome10.4
36blindness10.4
37kallmann syndrome10.4FGFR1, FGF8
38fgfr-related craniosynostosis syndromes10.4FGFR3, FGFR2, FGFR1
39jackson-weiss syndrome10.4FGFR2, FGFR1, FGFR3
40hypochondroplasia10.3FGFR2, FGFR1, FGFR3
41bronchopulmonary dysplasia10.3FGF7, FGF10
42dwarfism10.3FGFR2, FGFR1, FGFR3
43developmental disabilities10.3FGFR3, FGFR1, FGFR2
44syndactyly10.3FGF8, FGFR2, FGFR3
45arthritis10.3
46b-cell lymphomas10.3
47liver disease10.3
48acalculous cholecystitis10.3
49pharyngitis10.3
50neuronitis10.3

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



Diseases related to pfeiffer syndrome

Symptoms for Pfeiffer Syndrome

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Symptoms by clinical synopsis from OMIM:

101600

Clinical features from OMIM:

101600

Symptoms:

 48 8 (show all 27)
  • flat cheek bones/malar hypoplasia
  • ptosis
  • broad/bifid thumb
  • autosomal dominant inheritance
  • turricephaly/oxycephaly/acrocephaly
  • high forehead
  • hypertelorism
  • broad nasal root
  • short hand/brachydactyly
  • syndactyly of fingers/interdigital palm
  • symphalangy of fingers
  • clinodactyly of fifth finger
  • flat face
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • prognathism/prognathia
  • mouth held open
  • short philtrum
  • high vaulted/narrow palate
  • short neck
  • lordosis
  • carpal bones fusion/synostosis
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • short stature/dwarfism/nanism
  • fever
  • fatigue
  • lymphadenopathy
  • splenomegaly

HPO human phenotypes related to Pfeiffer Syndrome:

(show all 51)
id Description Frequency HPO Source Accession
1 ptosis hallmark (90%) HP:0000508
2 abnormality of thumb phalanx hallmark (90%) HP:0009602
3 cheekbone underdevelopment hallmark (90%) HP:0010669
4 hypertelorism typical (50%) HP:0000316
5 high forehead typical (50%) HP:0000348
6 wide nasal bridge typical (50%) HP:0000431
7 brachydactyly syndrome typical (50%) HP:0001156
8 abnormality of calvarial morphology typical (50%) HP:0002648
9 clinodactyly of the 5th finger typical (50%) HP:0004209
10 finger syndactyly typical (50%) HP:0006101
11 symphalangism affecting the phalanges of the hand typical (50%) HP:0009773
12 abnormality of the palate occasional (7.5%) HP:0000174
13 open mouth occasional (7.5%) HP:0000194
14 malar flattening occasional (7.5%) HP:0000272
15 mandibular prognathia occasional (7.5%) HP:0000303
16 short philtrum occasional (7.5%) HP:0000322
17 facial asymmetry occasional (7.5%) HP:0000324
18 short neck occasional (7.5%) HP:0000470
19 abnormality of the hip bone occasional (7.5%) HP:0003272
20 hyperlordosis occasional (7.5%) HP:0003307
21 short stature occasional (7.5%) HP:0004322
22 synostosis of carpal bones occasional (7.5%) HP:0005048
23 autosomal dominant inheritance HP:0000006
24 high palate HP:0000218
25 hydrocephalus HP:0000238
26 brachyturricephaly HP:0000244
27 mandibular prognathia HP:0000303
28 hypertelorism HP:0000316
29 hypoplasia of the maxilla HP:0000327
30 choanal stenosis HP:0000452
31 choanal atresia HP:0000453
32 strabismus HP:0000486
33 downslanted palpebral fissures HP:0000494
34 shallow orbits HP:0000586
35 dental crowding HP:0000678
36 syndactyly HP:0001159
37 intellectual disability HP:0001249
38 arnold-chiari malformation HP:0002308
39 cloverleaf skull HP:0002676
40 bronchomalacia HP:0002780
41 humeroradial synostosis HP:0003041
42 elbow ankylosis HP:0003070
43 short nose HP:0003196
44 short middle phalanx of toe HP:0003795
45 coronal craniosynostosis HP:0004440
46 depressed nasal bridge HP:0005280
47 cartilaginous trachea HP:0005347
48 finger syndactyly HP:0006101
49 shortening of all middle phalanges of the fingers HP:0006110
50 broad hallux HP:0010055
51 broad thumb HP:0011304

Drugs & Therapeutics for Pfeiffer Syndrome

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Drug clinical trials:

Search ClinicalTrials for Pfeiffer Syndrome

Search NIH Clinical Center for Pfeiffer Syndrome

Genetic Tests for Pfeiffer Syndrome

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Genetic tests related to Pfeiffer Syndrome:

id Genetic test Affiliating Genes
1 Pfeiffer Syndrome22

Anatomical Context for Pfeiffer Syndrome

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MalaCards organs/tissues related to Pfeiffer Syndrome:

31
Bone, Eye, Spleen, Testes, Monocytes, Trachea

FMA organs/tissues related to Pfeiffer Syndrome:

14
Pharynx

Animal Models for Pfeiffer Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Pfeiffer Syndrome:

35 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.0FGFR2, COL1A1, FGF10, ALPL
2MP:00053778.8COL1A1, FGFR3, FGFR2, FGF8, FGFR1, FGF10
3MP:00030128.6RUNX2, FGFR2, FGFR1, FGFR3, COL1A1
4MP:00028738.4FOSL1, COL1A1, FGFR2, FGF8, FGFR3, FGF10
5MP:00053678.3FGF10, TKT, FGF7, FGFR3, FGFR2, FGF8
6MP:00053808.0FOSL1, FGF10, FGFR1, FGF8, FGFR2, TWIST1
7MP:00053708.0COL1A1, COL3A1, TKT, RUNX2, FGFR2
8MP:00053917.9FGF8, FGFR1, FGFR3, COL1A1, FGFR2, RUNX2
9MP:00053887.8FGF10, FGFR2, ALPL, COL3A1, COL1A1, SP7
10MP:00053797.8TKT, FGFR2, FGF8, FGFR1, FGF10, RUNX2
11MP:00053827.8COL1A1, ALPL, FGFR1, RUNX2, FGF10, FGFR3
12MP:00053697.6ALPL, RUNX2, FGF10, COL1A1, COL3A1, FGFR1
13MP:00053717.5FGFR2, FGF8, FGF10, FGFR3, FGFR1, SP7
14MP:00053817.4FGF8, COL1A1, ALPL, TWIST1, FGFR2, RUNX2
15MP:00053847.4FGFR3, RUNX2, SP7, COL1A1, ALPL, TWIST1
16MP:00107717.3COL1A1, RUNX2, COL3A1, FGFR2, FGF7, FGFR1
17MP:00053867.2TKT, TWIST1, ALPL, FGFR1, FGF8, FGFR2
18MP:00053897.0FGF10, TKT, RUNX2, COL1A1, ALPL, FGFR2
19MP:00053906.9FGFR3, RUNX2, SP7, FOSL1, COL1A1, ALPL
20MP:00053876.9FGFR3, FGF7, COL1A1, RUNX2, ALPL, FGFR2
21MP:00053976.8FGF8, FGFR3, FGF10, RUNX2, FGF7, FGFR2
22MP:00053856.7FGF8, COL1A1, FOSL1, RUNX2, COL3A1, TWIST1
23MP:00053766.6RUNX2, SP7, FGF10, COL1A1, COL3A1, ALPL
24MP:00036316.5RUNX2, FGFR3, FGFR1, FGFR2, FGF10, COL1A1
25MP:00053786.4FGF10, FGFR1, FGF8, FGFR2, TKT, TWIST1
26MP:00107686.1COL3A1, FGF8, FGFR3, FGF10, FGFR2, TKT

Publications for Pfeiffer Syndrome

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Articles related to Pfeiffer Syndrome:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Clinical Image - Radiographic manifestations in Pfeiffer syndrome. (25892094)
2015
2
Premature Closure of the Spheno-occipital Synchondrosis in Pfeiffer Syndrome: A Link to Midface Hypoplasia. (24406578)
2014
3
Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families. (25129254)
2014
4
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. (25251565)
2014
5
Pfeiffer syndrome: the importance of prenatal diagnosis. (25183684)
2014
6
Pfeiffer syndrome: analysis of a clinical series and development of a classification system. (23348287)
2013
7
Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis. (24411056)
2013
8
Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome. (24036790)
2013
9
The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself. (23532954)
2013
10
Pfeiffer syndrome type II discovered perinatally: Report of an observation and review of the literature. (22921691)
2012
11
Intubation using a "bonfils fiberscope" in a patient with pfeiffer syndrome. (23208638)
2011
12
Biological effect of resorbable plates on normal osteoblasts and osteoblasts derived from Pfeiffer syndrome. (21558934)
2011
13
Intestinal malrotation in a patient with Pfeiffer syndrome type 2. (20509766)
2010
14
Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis. (20186072)
2010
15
A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene. (21189955)
2010
16
Pfeiffer syndrome: a treatment evaluation. (19407629)
2009
17
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. (19066959)
2009
18
Pyrexia after transcranial surgery for Pfeiffer syndrome. (19242364)
2009
19
Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation. (18618990)
2008
20
Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of treatment, and risk factors. (18216676)
2008
21
Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation. (18541976)
2008
22
Pfeiffer syndrome. (16740155)
2006
23
Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in utero. (16490997)
2006
24
Prenatal diagnosis of Pfeiffer syndrome type II. (15305355)
2004
25
A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene. (11556600)
2001
26
Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2. (11380927)
2001
27
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. (10945669)
2000
28
Using three-dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome. (11169319)
2000
29
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. (10394936)
1999
30
Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2. (10731087)
1999
31
Japanese sisters with Pfeiffer syndrome and achondroplasia: a mutation analysis. (9780920)
1998
32
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. (9475591)
1998
33
Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification. (9475589)
1998
34
A new case of Pfeiffer syndrome with mutation in FGFR2. (9457499)
1997
35
Prenatal diagnosis of cloverleaf skull in the subtype 2 Pfeiffer syndrome. (9018425)
1997
36
Audiologic and otologic characteristics of Pfeiffer syndrome. (8939381)
1996
37
Type 3 Pfeiffer syndrome with normal thumbs. (8958319)
1996
38
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. (7795583)
1995
39
Hydrocephalus in pfeiffer syndrome. (18638762)
1994
40
Sonographic findings with Pfeiffer syndrome. (8183836)
1994
41
Pfeiffer syndrome. (8054032)
1994
42
Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3. (8456855)
1993
43
Pfeiffer syndrome: a syndrome of acrocephalosyndactyly. (1645001)
1992
44
Congenital tracheal stenosis in Pfeiffer syndrome. (2208766)
1990
45
Mild expression of the Pfeiffer syndrome. (3191611)
1988
46
Cloverleaf skull associated with Pfeiffer syndrome: pathology and management. (3792393)
1986
47
Pfeiffer syndrome or Saethre-Chotzen syndrome? (4087491)
1985
48
L--pfeiffer syndrome. (4469993)
1974
49
Familial acrocephalosyndactyly (Pfeiffer syndrome). (4641185)
1972
50
Pfeiffer syndrome: an unusual type of acrocephalosyndactyl with broad thumbs and great toes. (5535071)
1970

Variations for Pfeiffer Syndrome

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

63 (show all 19)
id Symbol AA change Variation ID SNP ID
1FGFR1p.Pro252ArgVAR_004111
2FGFR2p.Ser252TrpVAR_004115
3FGFR2p.Cys278PheVAR_004121
4FGFR2p.Trp290CysVAR_004124
5FGFR2p.Asp321AlaVAR_004129
6FGFR2p.Thr341ProVAR_004135
7FGFR2p.Cys342ArgVAR_004137
8FGFR2p.Cys342SerVAR_004138
9FGFR2p.Cys342TyrVAR_004139
10FGFR2p.Ala344ProVAR_004141
11FGFR2p.Ser351CysVAR_004143
12FGFR2p.Val359PheVAR_004146
13FGFR2p.Ala172PheVAR_017259
14FGFR2p.Tyr340CysVAR_017269
15FGFR2p.Cys342GlyVAR_017270
16FGFR2p.Tyr375CysVAR_017275
17FGFR2p.Glu565GlyVAR_017277
18FGFR2p.Lys641ArgVAR_017278
19FGFR2p.Gly663GluVAR_017280

Clinvar genetic disease variations for Pfeiffer Syndrome:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr)single nucleotide variantPathogenicrs121918487GRCh37Chr 10, 123276892: 123276892
2FGFR2NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
3FGFR2NM_000141.4(FGFR2): c.1021A> C (p.Thr341Pro)single nucleotide variantPathogenicrs121918495GRCh37Chr 10, 123276896: 123276896
4FGFR2NM_000141.4(FGFR2): c.870G> C (p.Trp290Cys)single nucleotide variantPathogenicrs121918499GRCh37Chr 10, 123279562: 123279562
5FGFR2NM_000141.4(FGFR2): c.817_819delGAC (p.Asp273del)deletionPathogenicrs121918503GRCh37Chr 10, 123279613: 123279615
6FGFR2NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro)single nucleotide variantPathogenicrs121918505GRCh37Chr 10, 123279633: 123279633
7FGFR2FGFR2, IVSAS, G-A, -1single nucleotide variantPathogenic
8FGFR2FGFR2, 10-BP DEL/3-BP INS, NT952indelPathogenic
9FGFR2NM_000141.4(FGFR2): c.870G> T (p.Trp290Cys)single nucleotide variantPathogenicrs121918499GRCh37Chr 10, 123279562: 123279562
10FGFR2NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala)single nucleotide variantPathogenicrs121918506GRCh37Chr 10, 123256215: 123256215
11FGFR2FGFR2, IVSDS, A-G, +3single nucleotide variantPathogenic
12FGFR2NM_000141.4(FGFR2): c.962A> C (p.Asp321Ala)single nucleotide variantPathogenicrs121918510GRCh37Chr 10, 123276955: 123276955
13FGFR1NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg)single nucleotide variantPathogenicrs121909627GRCh37Chr 8, 38282208: 38282208

Expression for genes affiliated with Pfeiffer Syndrome

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Search GEO for disease gene expression data for Pfeiffer Syndrome.

Pathways for genes affiliated with Pfeiffer Syndrome

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

(show all 47)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7FGFR1, FGFR2, FGFR3
2
Show member pathways
9.7FGFR1, FGFR2, FGFR3
3
Show member pathways
9.7FGFR1, FGFR3, FGFR2
4
Show member pathways
9.7FGFR3, FGFR1, FGFR2
59.7FGFR2, FGFR1, FGFR3
69.7FGFR2, FGFR1, FGFR3
79.7FGFR2, FGFR3, FGFR1
8
Show member pathways
9.7FGFR3, FGFR1, FGF8
99.6COL3A1, COL1A1
109.5FOSL1, BGLAP
119.2FGF8, FGFR3, FGFR1, TWIST1, FGFR2
129.2BGLAP, RUNX2, TWIST1
139.0FGFR3, FGFR1, ALPL, RUNX2
149.0FGFR2, RUNX2, BGLAP, FGFR1
158.9RUNX2, COL1A1, BGLAP
168.6FGF8, FGF10, FGFR1, TWIST1, FGF7
178.4RUNX2, BGLAP, COL1A1, FOSL1
18
Show member pathways
8.3FGF10, FGFR3, FGFR1, FGF7, FGFR2, FGF8
198.3FGFR3, FGF10, FGFR1, FGF7, FGFR2, FGF8
20
Show member pathways
8.3FGF7, FGFR2, FGF10, FGFR3, FGFR1, FGF8
21
Show member pathways
8.3FGF10, FGF7, FGFR2, FGFR3, FGFR1, FGF8
22
Show member pathways
8.3FGF7, FGF10, FGFR3, FGF8, FGFR1, FGFR2
23
Show member pathways
8.3FGF10, FGFR3, FGFR1, FGF8, FGF7, FGFR2
248.3FGFR3, FGFR2, FGFR1, FGF7, FGF10, FGF8
25
Show member pathways
8.3FGF8, FGFR2, FGF7, FGFR1, FGFR3, FGF10
26
Show member pathways
8.3FGF10, FGFR3, FGFR2, FGF7, FGF8, FGFR1
27
Show member pathways
8.3FGF7, FGF8, FGFR1, FGFR3, FGF10, FGFR2
28
Show member pathways
8.3FGFR3, FGFR2, FGF7, FGF8, FGFR1, FGF10
29
Show member pathways
8.3FGFR1, FGF8, FGFR2, FGF7, FGF10, FGFR3
30
Show member pathways
8.3FGF7, FGF10, FGFR3, FGFR1, FGF8, FGFR2
31
Show member pathways
8.3FGF8, FGF7, FGF10, FGFR3, FGFR2, FGFR1
32
Show member pathways
8.3FGFR2, FGF7, FGF10, FGFR3, FGFR1, FGF8
33
Show member pathways
8.3FGFR3, FGF10, FGFR1, FGF8, FGF7, FGFR2
34
Show member pathways
8.3FGFR3, FGF7, FGFR2, FGFR1, FGF10, FGF8
35
Show member pathways
8.3FGF10, FGFR3, FGFR1, FGF8, FGF7, FGFR2
36
Show member pathways
MAPK signaling pathway36
8.3FGFR1, FGF7, FGFR2, FGFR3, FGF10, FGF8
37
Show member pathways
8.3FGFR2, FGF7, FGFR1, FGF8, FGFR3, FGF10
38
Show member pathways
8.3FGFR2, FGF7, FGF8, FGFR1, FGF10, FGFR3
39
Show member pathways
Signaling Pathways in Glioblastoma36
8.3FGF10, FGFR2, FGF7, FGF8, FGFR1, FGFR3
40
Show member pathways
8.3FGFR2, FGF7, FGFR1, FGF10, FGF8, FGFR3
41
Show member pathways
8.3FGFR3, FGF7, FGF8, FGFR1, FGF10, FGFR2
42
Show member pathways
8.3FGF10, FGFR2, FGF7, FGF8, FGFR1, FGFR3
43
Show member pathways
7.8FGF10, FGFR1, FGF8, FOSL1, FGFR3, FGFR2
44
Show member pathways
7.8FGF10, FOSL1, FGFR3, FGF7, FGFR1, FGF8
457.4FGF7, COL3A1, FGFR2, FGF10, FGFR3, COL1A1
46
Show member pathways
7.4FGFR2, FGF8, FGF10, FGFR3, FGFR1, COL1A1
47
Show member pathways
6.9FGF7, FGF10, FGFR3, FGFR1, FGF8, FGFR2

Compounds for genes affiliated with Pfeiffer Syndrome

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

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1su 54026010.2FGFR1, FGFR2, FGFR3
2fiin 1 hydrochloride6010.1FGFR3, FGFR1, FGFR2
3pd 1615706010.1FGFR1, FGFR2, FGFR3
4su54024410.1FGFR3, FGFR1, FGFR2
5pd 17307444 6011.1FGFR1, FGFR3, FGFR2
6ponatinib50 1111.1FGFR2, FGFR1, FGFR3
7valacyclovir449.9BGLAP, TKT
8nppa449.8COL1A1, COL3A1
9phenylalanine449.7ALPL, FGFR2, FGFR3, FGFR1
10phosphotyrosine449.6FGFR1, FGFR3, TKT, FGFR2
11dextran sulfate sodium449.6FGF7, FGF10
12foscarnet44 1110.4RUNX2, TKT
13chondroitin sulfate44 2410.4FGFR2, FGF7, FGFR1
14palifermin44 1110.3FGF7, FGFR2, FGFR3, FGFR1
15hydroxyapatite449.3RUNX2, BGLAP, ALPL
16suramin44 28 1111.3FGFR2, FGF7, FGF8, FGFR1
17alizarin449.2RUNX2, SP7, ALPL, BGLAP
18agar449.0FGF7, FGFR1, FGFR2, TKT
19heparan sulfate44 2410.0FGF8, FGF10, FGF7, FGFR2, FGFR1
20sb 20358044 6010.0BGLAP, FGFR1, RUNX2, FOSL1
21procollagen448.9COL3A1, COL1A1, BGLAP, RUNX2
22glycosaminoglycan448.9FGF7, FGFR2, COL1A1
23bromodeoxyuridine448.8FGFR2, FGF7, FGFR1, FGF10, TKT
24tamoxifen44 50 28 1111.8FGFR2, BGLAP, TKT, FGF7
25paraffin448.8BGLAP, TKT, FGFR2, FGFR3
26glutamate448.8FGFR3, FGFR1, TKT, COL3A1, FGFR2
27zinc44 249.6RUNX2, FGF8, COL1A1, SP7, FGFR1
28heparin44 28 24 1111.6FGF10, FGFR1, FGF8, FGF7, BGLAP, FGFR2
2912-o-tetradecanoylphorbol 13-acetate448.6TKT, FGFR2, FGF7, FOSL1, FGFR1
30h2o2448.6FOSL1, FGFR2, FGF7, FGFR1, BGLAP
31imatinib44 50 1110.5COL1A1, TKT, FGF7, FGFR3, FGFR1
32ascorbic acid44 249.5TKT, FOSL1, BGLAP, SP7, RUNX2
331,25 dihydroxy vitamin d3448.5FGF7, COL1A1, RUNX2, BGLAP
34pd 98,059448.4RUNX2, FGFR2, FGF7, FGFR1, FOSL1
35aspartate448.3BGLAP, COL1A1, COL3A1, FGF7, ALPL
36phosphatidylinositol448.2RUNX2, FOSL1, FGFR2, FGF7, FGFR1
37testosterone44 60 24 1111.2TKT, FGF10, FGFR1, FGF7, FGFR2, FGF8
38nitric oxide44 24 1110.1FGFR1, RUNX2, FOSL1, FGF7, FGFR2
39ribonucleic acid448.1RUNX2, COL1A1, COL3A1, FGFR2, FGFR1, FGF7
40cysteine448.0COL1A1, BGLAP, ALPL, FGFR3, FGFR2, FGFR1
41vitamin d447.9FGF7, BGLAP, RUNX2, FGFR2, ALPL, COL1A1
42dexamethasone44 50 28 1110.8RUNX2, FGF7, COL1A1, BGLAP, SP7, FGFR3
43oligonucleotide447.8FGFR3, FGFR1, FGF7, FGFR2, ALPL, COL1A1
44thymidine44 248.6RUNX2, FGFR1, FGF7, COL3A1, COL1A1, TKT
45tyrosine446.9FGFR2, FGF10, FGFR3, FGFR1, TWIST1, RUNX2
46estrogen446.8FOSL1, COL1A1, TWIST1, FGFR2, TKT, BGLAP
47serine446.8TKT, COL1A1, FOSL1, BGLAP, FGFR2, FGFR3
48vegf446.7RUNX2, SP7, BGLAP, COL1A1, FGF10, FGFR3
49retinoic acid44 247.2FGFR2, RUNX2, BGLAP, FOSL1, COL1A1, ALPL
50calcium44 50 24 119.1FGFR2, COL1A1, SP7, BGLAP, FOSL1, RUNX2

GO Terms for genes affiliated with Pfeiffer Syndrome

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Cellular components related to Pfeiffer Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:00160239.4FGFR2, FGFR1, FGFR3
2extracellular matrixGO:00310128.7COL1A1, COL3A1, ALPL, FGFR2, FGF10
3extracellular spaceGO:00056158.2BGLAP, COL1A1, COL3A1, ALPL, FGF8, FGF10
4nucleusGO:00056347.2SP7, FOSL1, TWIST1, TKT, FGFR2, FGFR1
5extracellular regionGO:00055767.1FGF10, BGLAP, COL1A1, COL3A1, FGFR2, FGF7

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

(show top 50)    (show all 80)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.4FGFR2, FGFR1
2ventricular zone neuroblast divisionGO:002184710.3FGFR1, FGFR2
3mammary gland bud formationGO:006061510.3FGF10, FGFR2
4fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:006059510.3FGFR2, FGF10
5mesenchymal cell differentiation involved in lung developmentGO:006091510.3FGFR2, FGF10
6branch elongation involved in salivary gland morphogenesisGO:006066710.3FGF10, FGFR2
7mesenchymal cell differentiationGO:004876210.2FGFR1, FGFR2
8lacrimal gland developmentGO:003280810.2FGF10, FGFR2
9positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.2FGFR3, FGFR1
10epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.1FGFR2, FGF10
11positive regulation of phospholipase activityGO:001051810.1FGFR2, FGFR1, FGFR3
12otic vesicle formationGO:003091610.1FGF10, FGFR2, FGF8
13organ inductionGO:000175910.1FGF8, FGF10, FGFR1
14lens fiber cell developmentGO:007030710.1FGFR2, FGFR3
15outer ear morphogenesisGO:004247310.0TWIST1, FGFR1
16bone developmentGO:006034810.0FGFR2, BGLAP, FGF8
17MAPK cascadeGO:000016510.0FGF8, FGFR1, FGFR3
18positive regulation of cell cycleGO:00457879.9FOSL1, FGFR1, FGFR2
19positive regulation of MAPK cascadeGO:00434109.8FGF10, FGFR1, FGFR2, FGFR3
20regulation of odontogenesis of dentin-containing toothGO:00424879.7FGF8, RUNX2
21embryonic cranial skeleton morphogenesisGO:00487019.7TWIST1, RUNX2, FGFR2
22odontogenesisGO:00424769.7FGFR2, TWIST1, FGF8, BGLAP
23response to gravityGO:00096299.7FOSL1, BGLAP
24positive regulation of epithelial cell proliferation involved in lung morphogenesisGO:00605019.7FGF7, FGFR2
25secretion by lung epithelial cell involved in lung growthGO:00610339.7FGF7, FGF10
26regulation of fibroblast growth factor receptor signaling pathwayGO:00400369.7RUNX2, FGFR2
27negative regulation of mitosisGO:00458399.7FGFR3, FGFR2
28positive regulation of ERK1 and ERK2 cascadeGO:00703749.7FGF10, FGFR3, FGFR2
29positive regulation of keratinocyte proliferationGO:00108389.7FGF10, FGF7
30positive regulation of keratinocyte migrationGO:00515499.6FGF7, FGF10
31peptidyl-tyrosine phosphorylationGO:00181089.6FGFR2, FGFR1, FGFR3
32positive regulation of canonical Wnt signaling pathwayGO:00902639.6FGF10, FGFR3, FGFR2, COL1A1
33in utero embryonic developmentGO:00017019.5TWIST1, FGFR2, FOSL1, FGFR1
34regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signalingGO:00606659.5FGF10, FGFR1, FGF7
35hair follicle morphogenesisGO:00310699.5FGF10, FGFR2, FGF7
36positive regulation of cell divisionGO:00517819.5FGFR2, FGF7, FGF8
37response to mechanical stimulusGO:00096129.5BGLAP, COL3A1, FOSL1
38branching involved in salivary gland morphogenesisGO:00604459.4FGFR1, FGF8, FGF7, FGFR2
39positive regulation of epithelial cell proliferationGO:00506799.3FGF7, FGFR2, FGF10, TWIST1
40endochondral ossificationGO:00019589.1RUNX2, ALPL, FGFR3, COL1A1
41phosphatidylinositol-mediated signalingGO:00480158.8FGFR3, FGF8, FGF7, FGF10, FGFR1, FGFR2
42insulin receptor signaling pathwayGO:00082868.8FGF10, FGF7, FGF8, FGFR2, FGFR3, FGFR1
43fibroblast growth factor receptor signaling pathwayGO:00085438.8FGF7, FGFR1, FGF10, FGFR3, FGF8, FGFR2
44Fc-epsilon receptor signaling pathwayGO:00380958.8FGF7, FGF8, FGFR1, FGF10, FGFR3, FGFR2
45epidermal growth factor receptor signaling pathwayGO:00071738.8FGF10, FGFR3, FGFR1, FGF8, FGF7, FGFR2
46osteoblast differentiationGO:00016498.8TWIST1, RUNX2, BGLAP, COL1A1, SP7
47neurotrophin TRK receptor signaling pathwayGO:00480118.8FGF7, FGF8, FGFR1, FGF10, FGFR3, FGFR2
48skeletal system developmentGO:00015018.8ALPL, BGLAP, COL1A1, COL3A1, FGFR1, FGFR3
49innate immune responseGO:00450878.7FGFR1, FGFR2, FGFR3, FGF10, FGF7, FGF8
50positive regulation of cell proliferationGO:00082847.9FGF8, FGFR3, FGFR1, FGF7, FGFR2, FOSL1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1type 2 fibroblast growth factor receptor bindingGO:000511110.1FGF8, FGF10
2fibroblast growth factor-activated receptor activityGO:000500710.0FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:00171349.9FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:00047139.8FGFR3, FGFR1, FGFR2
5platelet-derived growth factor bindingGO:00484079.6COL1A1, COL3A1
6fibroblast growth factor receptor bindingGO:00051049.3FGF7, FGF8, FGF10
7chemoattractant activityGO:00420569.3FGF7, FGF8, FGF10
8bHLH transcription factor bindingGO:00434259.3RUNX2, TWIST1
9protein homodimerization activityGO:00428039.3FGFR1, FGFR2, TKT, TWIST1
10heparin bindingGO:00082019.1FGF10, FGFR1, FGF7, FGFR2
11growth factor activityGO:00080839.0FGF10, FGF8, FGF7
12protein bindingGO:00055156.4RUNX2, FOSL1, COL1A1, COL3A1, ALPL, TWIST1

Sources for Pfeiffer Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet