MCID: PFF001
MIFTS: 55

Pfeiffer Syndrome malady

Genetic diseases, Bone diseases, Eye diseases, Fetal diseases, Rare diseases categories

Summaries for Pfeiffer Syndrome

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Disease Ontology:9 An acrocephalosyndactylia that has material basis in mutations in the fgfr1 and fgfr2 gene which results in premature fusion located in skull.

MalaCards based summary: Pfeiffer Syndrome, also known as acrocephalopolysyndactyly type iv, is related to infectious mononucleosis and crouzon syndrome. 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 skull and bone, and related mouse phenotypes are adipose tissue and hearing/vestibular/ear.

Description from OMIM:46 101600

Aliases & Classifications for Pfeiffer Syndrome

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Pfeiffer Syndrome, Aliases & Descriptions:

Name: Pfeiffer Syndrome 9
Acrocephalopolysyndactyly Type Iv 61
 
Acrocephalosyndactylia Type V 9


Classifications:



External Ids:

Disease Ontology9 DOID:14705
OMIM46 101600
SNOMED-CT56 70410008
MeSH34 D000168

Related Diseases for Pfeiffer Syndrome

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Diseases in the Pfeiffer Syndrome Type 1 family:

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

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

(show top 50)    (show all 106)
idRelated DiseaseScoreTop Affiliating Genes
1infectious mononucleosis31.8FGFR2, FGFR1
2crouzon syndrome30.8FGFR1, FGFR3, FGFR2
3achondroplasia30.8FGFR3, FGFR2
4cleft palate30.4FGFR1, FGFR2, FGF10, TWIST1
5saethre-chotzen syndrome30.3FGFR3, FGFR1, FGFR2, TWIST1, BGLAP
6craniosynostosis30.0TWIST1, FGFR2, ALPL, RUNX2, FGF8, FGF10
7beare-stevenson cutis gyrata syndrome10.6FGFR2
8osteoglophonic dysplasia10.6FGFR1
9antley-bixler syndrome10.5FGFR2
10osteochondroma10.5FGFR3
11thanatophoric dysplasia10.5FGFR3, FGFR2
12hypophosphatasia10.5ALPL
13paget's disease of bone10.5ALPL
14winkelman bethge pfeiffer syndrome10.4
15strabismus10.4FGFR3, FGFR2
16gliosarcoma10.4TKT
17acanthosis nigricans10.4FGFR3, FGFR2
18pfeiffer syndrome type 110.4
19aorta atresia10.4FGF10, FGFR2
20kallmann syndrome10.4FGFR1, FGF8
21fgfr-related craniosynostosis syndromes10.4FGFR3, FGFR2, FGFR1
22jackson-weiss syndrome10.4FGFR2, FGFR1, FGFR3
23hypochondroplasia10.4FGFR2, FGFR1, FGFR3
24bronchopulmonary dysplasia10.4FGF7, FGF10
25pfeiffer syndrome type 310.4
26dwarfism10.3FGFR2, FGFR1, FGFR3
27syndactyly10.3FGF8, FGFR2, FGFR3
28developmental disabilities10.3FGFR3, FGFR1, FGFR2
29hypospadias10.3FGF10, FGF8, FGFR2
30parathyroid adenoma10.3ALPL, FGFR2
31ladd syndrome10.3FGFR2, FGFR3, FGF10
32embryonal cancer10.3FGFR2, FGFR1, FGF8
33teratocarcinoma10.3FGF7, FGFR2, FGF8
34cholesteatoma10.3FGF7, FGFR2
35skin disease10.3FGFR2, FGF7, FGFR3
36giant cell tumor10.3BGLAP, FGFR3
37muenke syndrome10.2FGFR1, FGFR3, FGFR2, TWIST1
38acrocephalosyndactylia10.2TWIST1, FGFR2, FGFR1, FGFR3
39osteitis fibrosa10.2BGLAP, ALPL
40brachydactyly10.2RUNX2, FGFR3
41osteonecrosis10.2BGLAP, ALPL
42renal osteodystrophy10.2BGLAP, ALPL
43hypogonadism10.2FGFR1, FGF8, BGLAP
44hyperphosphatemia10.2RUNX2, ALPL
45hypophosphatemia10.2ALPL, BGLAP
46endometrial carcinoma10.2FGF10, FGF7, FGFR2
47cardiocranial syndrome10.2
48pituitary hormone deficiency, combined 310.2
49pfeiffer syndrome type 1, 2 and 310.2
50progressive osseous heteroplasia10.2RUNX2, BGLAP

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



Diseases related to pfeiffer syndrome

Symptoms for Pfeiffer Syndrome

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Clinical features from OMIM:

101600

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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Anatomical Context for Pfeiffer Syndrome

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MalaCards organs/tissues related to Pfeiffer Syndrome:

32
Bone

FMA organs/tissues related to Pfeiffer Syndrome:

15
Skull

Animal Models for Pfeiffer Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Pfeiffer Syndrome:

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

Publications for Pfeiffer Syndrome

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Articles related to Pfeiffer Syndrome:

(show top 50)    (show all 105)
idTitleAuthorsYear
1
Premature Closure of the Spheno-occipital Synchondrosis in Pfeiffer Syndrome: A Link to Midface Hypoplasia. (24406578)
2014
2
Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families. (25129254)
2014
3
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. (25251565)
2014
4
Pfeiffer syndrome: the importance of prenatal diagnosis. (25183684)
2014
5
Pfeiffer syndrome: analysis of a clinical series and development of a classification system. (23348287)
2013
6
Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis. (24411056)
2013
7
Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome. (24036790)
2013
8
The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself. (23532954)
2013
9
Pfeiffer syndrome type II discovered perinatally: Report of an observation and review of the literature. (22921691)
2012
10
Intubation using a "bonfils fiberscope" in a patient with pfeiffer syndrome. (23208638)
2011
11
Biological effect of resorbable plates on normal osteoblasts and osteoblasts derived from Pfeiffer syndrome. (21558934)
2011
12
Intestinal malrotation in a patient with Pfeiffer syndrome type 2. (20509766)
2010
13
Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis. (20186072)
2010
14
A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene. (21189955)
2010
15
Pfeiffer syndrome: a treatment evaluation. (19407629)
2009
16
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. (19066959)
2009
17
Pyrexia after transcranial surgery for Pfeiffer syndrome. (19242364)
2009
18
Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement. (19390453)
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
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. (8644708)
1996
39
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. (7795583)
1995
40
Hydrocephalus in pfeiffer syndrome. (18638762)
1994
41
Sonographic findings with Pfeiffer syndrome. (8183836)
1994
42
Pfeiffer syndrome. (8054032)
1994
43
A severe case of Pfeiffer syndrome associated with stub thumb on the maternal side of the family. (8325969)
1993
44
Pfeiffer syndrome: a syndrome of acrocephalosyndactyly. (1645001)
1992
45
Congenital tracheal stenosis in Pfeiffer syndrome. (2208766)
1990
46
Mild expression of the Pfeiffer syndrome. (3191611)
1988
47
Cloverleaf skull associated with Pfeiffer syndrome: pathology and management. (3792393)
1986
48
Pfeiffer syndrome or Saethre-Chotzen syndrome? (4087491)
1985
49
L--pfeiffer syndrome. (4469993)
1974
50
Familial acrocephalosyndactyly (Pfeiffer syndrome). (4641185)
1972

Variations for Pfeiffer Syndrome

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Clinvar genetic disease variations for Pfeiffer Syndrome:

7
id Gene Name 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
7FGFR2NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala)single nucleotide variantPathogenicrs121918506GRCh37Chr 10, 123256215: 123256215
8FGFR2NM_000141.4(FGFR2): c.962A> C (p.Asp321Ala)single nucleotide variantPathogenicrs121918510GRCh37Chr 10, 123276955: 123276955
9FGFR1NM_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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Expression patterns in normal tissues for genes affiliated with Pfeiffer Syndrome

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Pathways for genes affiliated with Pfeiffer Syndrome

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Pathways related to Pfeiffer Syndrome according to GeneCards/GeneDecks:

(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 pathway37
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 Glioblastoma37
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/GeneDecks:

(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 1211.1FGFR2, FGFR1, FGFR3
7valacyclovir449.9BGLAP, TKT
8nppa449.8COL1A1, COL3A1
9phenylalanine449.7ALPL, FGFR2, FGFR3, FGFR1
10phosphotyrosine449.6FGFR1, FGFR3, TKT, FGFR2
11dextran sulfate sodium449.6FGF7, FGF10
12foscarnet44 1210.4RUNX2, TKT
13chondroitin sulfate44 2510.4FGFR2, FGF7, FGFR1
14palifermin44 1210.3FGF7, FGFR2, FGFR3, FGFR1
15hydroxyapatite449.3RUNX2, BGLAP, ALPL
16suramin44 29 1211.3FGFR2, FGF7, FGF8, FGFR1
17alizarin449.2RUNX2, SP7, ALPL, BGLAP
18agar449.0FGF7, FGFR1, FGFR2, TKT
19heparan sulfate44 2510.0FGF8, 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 29 1211.8FGFR2, BGLAP, TKT, FGF7
25paraffin448.8BGLAP, TKT, FGFR2, FGFR3
26glutamate448.8FGFR3, FGFR1, TKT, COL3A1, FGFR2
27zinc44 259.6RUNX2, FGF8, COL1A1, SP7, FGFR1
28heparin44 29 25 1211.6FGF10, FGFR1, FGF8, FGF7, BGLAP, FGFR2
2912-o-tetradecanoylphorbol 13-acetate448.6TKT, FGFR2, FGF7, FOSL1, FGFR1
30h2o2448.6FOSL1, FGFR2, FGF7, FGFR1, BGLAP
31imatinib44 50 1210.5COL1A1, TKT, FGF7, FGFR3, FGFR1
32ascorbic acid44 259.5TKT, 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 25 1211.2TKT, FGF10, FGFR1, FGF7, FGFR2, FGF8
38nitric oxide44 25 1210.1FGFR1, 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 29 1210.8RUNX2, FGF7, COL1A1, BGLAP, SP7, FGFR3
43oligonucleotide447.8FGFR3, FGFR1, FGF7, FGFR2, ALPL, COL1A1
44thymidine44 258.6RUNX2, 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 257.2FGFR2, RUNX2, BGLAP, FOSL1, COL1A1, ALPL
50calcium44 50 25 129.1FGFR2, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.4FGFR2, FGFR1, FGFR3
2extracellular matrixGO:0310128.7COL3A1, ALPL, FGFR2, FGF10, COL1A1
3extracellular spaceGO:0056158.2BGLAP, FGF10, COL1A1, FGF8, ALPL, COL3A1
4nucleusGO:0056347.2RUNX2, SP7, FOSL1, TWIST1, TKT, FGFR2
5extracellular regionGO:0055767.1FGF10, BGLAP, COL1A1, COL3A1, FGFR2, FGF7

Biological processes related to Pfeiffer Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 80)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.4FGFR2, FGFR1
2ventricular zone neuroblast divisionGO:02184710.3FGFR1, FGFR2
3mammary gland bud formationGO:06061510.3FGF10, FGFR2
4fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:06059510.3FGFR2, FGF10
5mesenchymal cell differentiation involved in lung developmentGO:06091510.3FGFR2, FGF10
6branch elongation involved in salivary gland morphogenesisGO:06066710.3FGF10, FGFR2
7mesenchymal cell differentiationGO:04876210.2FGFR1, FGFR2
8lacrimal gland developmentGO:03280810.2FGF10, FGFR2
9positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.2FGFR3, FGFR1
10epithelial cell proliferation involved in salivary gland morphogenesisGO:06066410.1FGFR2, FGF10
11positive regulation of phospholipase activityGO:01051810.1FGFR2, FGFR1, FGFR3
12otic vesicle formationGO:03091610.1FGF10, FGFR2, FGF8
13organ inductionGO:00175910.1FGF8, FGF10, FGFR1
14lens fiber cell developmentGO:07030710.1FGFR2, FGFR3
15outer ear morphogenesisGO:04247310.0TWIST1, FGFR1
16bone developmentGO:06034810.0FGFR2, BGLAP, FGF8
17MAPK cascadeGO:00016510.0FGF8, FGFR1, FGFR3
18positive regulation of cell cycleGO:0457879.9FOSL1, FGFR1, FGFR2
19positive regulation of MAPK cascadeGO:0434109.8FGF10, FGFR1, FGFR2, FGFR3
20regulation of odontogenesis of dentin-containing toothGO:0424879.7FGF8, RUNX2
21embryonic cranial skeleton morphogenesisGO:0487019.7TWIST1, RUNX2, FGFR2
22odontogenesisGO:0424769.7FGFR2, TWIST1, FGF8, BGLAP
23response to gravityGO:0096299.7FOSL1, BGLAP
24positive regulation of epithelial cell proliferation involved in lung morphogenesisGO:0605019.7FGF7, FGFR2
25secretion by lung epithelial cell involved in lung growthGO:0610339.7FGF7, FGF10
26regulation of fibroblast growth factor receptor signaling pathwayGO:0400369.7RUNX2, FGFR2
27negative regulation of mitosisGO:0458399.7FGFR3, FGFR2
28positive regulation of ERK1 and ERK2 cascadeGO:0703749.7FGF10, FGFR3, FGFR2
29positive regulation of keratinocyte proliferationGO:0108389.7FGF10, FGF7
30positive regulation of keratinocyte migrationGO:0515499.6FGF7, FGF10
31peptidyl-tyrosine phosphorylationGO:0181089.6FGFR2, FGFR1, FGFR3
32positive regulation of canonical Wnt signaling pathwayGO:0902639.6FGF10, FGFR3, FGFR2, COL1A1
33in utero embryonic developmentGO:0017019.5TWIST1, FGFR2, FOSL1, FGFR1
34regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signalingGO:0606659.5FGF10, FGFR1, FGF7
35hair follicle morphogenesisGO:0310699.5FGF10, FGFR2, FGF7
36positive regulation of cell divisionGO:0517819.5FGFR2, FGF7, FGF8
37response to mechanical stimulusGO:0096129.5BGLAP, COL3A1, FOSL1
38branching involved in salivary gland morphogenesisGO:0604459.4FGFR1, FGF8, FGF7, FGFR2
39positive regulation of epithelial cell proliferationGO:0506799.3FGF7, FGFR2, FGF10, TWIST1
40endochondral ossificationGO:0019589.1RUNX2, ALPL, FGFR3, COL1A1
41phosphatidylinositol-mediated signalingGO:0480158.8FGFR3, FGF8, FGF7, FGF10, FGFR1, FGFR2
42insulin receptor signaling pathwayGO:0082868.8FGF10, FGF7, FGF8, FGFR2, FGFR3, FGFR1
43fibroblast growth factor receptor signaling pathwayGO:0085438.8FGF7, FGFR1, FGF10, FGFR3, FGF8, FGFR2
44Fc-epsilon receptor signaling pathwayGO:0380958.8FGF7, FGF8, FGFR1, FGF10, FGFR3, FGFR2
45epidermal growth factor receptor signaling pathwayGO:0071738.8FGF10, FGFR3, FGFR1, FGF8, FGF7, FGFR2
46osteoblast differentiationGO:0016498.8TWIST1, RUNX2, BGLAP, COL1A1, SP7
47neurotrophin TRK receptor signaling pathwayGO:0480118.8FGF7, FGF8, FGFR1, FGF10, FGFR3, FGFR2
48skeletal system developmentGO:0015018.8ALPL, BGLAP, COL1A1, COL3A1, FGFR1, FGFR3
49innate immune responseGO:0450878.7FGFR1, FGFR2, FGFR3, FGF10, FGF7, FGF8
50positive regulation of cell proliferationGO:0082847.9FGF8, FGFR3, FGFR1, FGF7, FGFR2, FOSL1

Molecular functions related to Pfeiffer Syndrome according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1type 2 fibroblast growth factor receptor bindingGO:00511110.1FGF10, FGF8
2fibroblast growth factor-activated receptor activityGO:00500710.0FGFR2, FGFR3, FGFR1
3fibroblast growth factor bindingGO:0171349.9FGFR2, FGFR1, FGFR3
4protein tyrosine kinase activityGO:0047139.8FGFR3, FGFR2, FGFR1
5platelet-derived growth factor bindingGO:0484079.6COL1A1, COL3A1
6fibroblast growth factor receptor bindingGO:0051049.3FGF7, FGF8, FGF10
7chemoattractant activityGO:0420569.3FGF10, FGF8, FGF7
8bHLH transcription factor bindingGO:0434259.3TWIST1, RUNX2
9protein homodimerization activityGO:0428039.3FGFR1, FGFR2, TWIST1, TKT
10heparin bindingGO:0082019.1FGFR1, FGF10, FGFR2, FGF7
11growth factor activityGO:0080839.0FGF10, FGF8, FGF7
12protein bindingGO:0055156.4ALPL, RUNX2, FOSL1, FGFR1, FGF7, FGFR2

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4CDC
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23GTR
24HGMD
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