CS
MCID: CRZ001
MIFTS: 64

Crouzon Syndrome (CS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Crouzon Syndrome

MalaCards integrated aliases for Crouzon Syndrome:

Name: Crouzon Syndrome 57 12 73 20 43 72 36 29 13 54 6 15
Crouzon Craniofacial Dysostosis 57 20 43 58 72
Craniofacial Dysostosis 12 73 43 44 32
Cfd1 57 20 43 72
Craniofacial Dysostosis Type 1 20 43 70
Crouzon Disease 20 43 58
Crouzon's Disease 12 43
Craniofacial Dysostosis, Type I; Cfd1 57
Craniofacial Dysostosis Syndrome 43
Craniofacial Dysostosis, Type I 57
Craniofacial Dysostosis Type I 72
Craniofacial Dysarthrosis 43
Syndrome, Crouzon 39
Cs 72

Characteristics:

Orphanet epidemiological data:

58
crouzon disease
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
associated with increased paternal age


HPO:

31
crouzon syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Crouzon Syndrome

MedlinePlus Genetics : 43 Crouzon 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.Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few individuals with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. Individuals with Crouzon syndrome usually have normal intelligence.

MalaCards based summary : Crouzon Syndrome, also known as crouzon craniofacial dysostosis, is related to hypertelorism and fgfr craniosynostosis syndromes, and has symptoms including seizures and frequent headaches. An important gene associated with Crouzon Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Innate Immune System and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include Bone, eye and brain, and related phenotypes are frontal bossing and abnormal facial shape

Disease Ontology : 12 A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.

GARD : 20 Crouzon syndrome is a disorder characterized by early fusion of certain skull bones ( craniosynostosis ). This prevents normal growth of the skull, which can affect the shape of the head and face. Signs and symptoms of Crouzon syndrome may include wide-set, bulging eyes; strabismus (misalignment of the eyes); a small, "beak-shaped" nose; and an underdeveloped upper jaw. Other features may include dental problems, hearing loss, and/or cleft lip and palate. The severity of signs and symptoms can vary among affected people, even within a family. Intelligence is usually normal, but intellectual disability may be present. Crouzon syndrome is caused by changes ( mutations ) in the FGFR2 gene and is inherited in an autosomal dominant manner. Treatment may involve surgeries to prevent complications, improve function, and aid in healthy psychosocial development.

OMIM® : 57 Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000). (123500) (Updated 05-Apr-2021)

KEGG : 36 Crouzon syndrome (CS) is an autosomal dominant disorder characterized by generalized craniosynostoses, maxillary hypoplasia, widely spaced but shallow orbits with prominent globes. Heterozygous mutations of FGFR2 cause three classical craniosynostosis syndromes, Apert, Crouzon and Pfeiffer. Crouzon syndrome is usually the mildest of the FGFR2-associated disorders and the clinical diagnosis is suggested by the combination of characteristic facies and absence of major abnormalities of the hands and feet. It has also been reported that a mutation of FGFR3 gene causes Crouzon syndrome with acanthosis nigricans.

UniProtKB/Swiss-Prot : 72 Crouzon syndrome: An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.

Wikipedia : 73 Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome.... more...

Related Diseases for Crouzon Syndrome

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

(show top 50) (show all 191)
# Related Disease Score Top Affiliating Genes
1 hypertelorism 31.2 TWIST1 FGFR2 EFNB1
2 fgfr craniosynostosis syndromes 31.1 FGFR3 FGFR2 FGFR1
3 syndromic craniosynostosis 30.9 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 ERF
4 dysostosis 30.9 TWIST1 TCOF1 MSX2 FGFR3 FGFR2 FGFR1
5 synostosis 30.8 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
6 craniosynostosis 1 30.8 TWIST1 FGFR3 FGFR2 ERF
7 craniosynostosis 30.8 TWIST1 MSX2 FGFR4 FGFR3 FGFR2 FGFR1
8 achondroplasia 30.7 MSX2 FGFR3 FGFR2 FGFR1 FGF3
9 antley-bixler syndrome 30.6 FGFR3 FGFR2 FGFR1
10 choanal atresia, posterior 30.5 TCOF1 FGFR1 FGF8
11 parietal foramina 30.5 TWIST1 MSX2 FGFR3 FGF8
12 cholesteatoma of middle ear 30.4 FGFR2 FGF7 FGF2
13 beare-stevenson cutis gyrata syndrome 30.4 FGFR3 FGFR2 EFNB1
14 pseudopterygium 30.3 FGFR1 FGF7 FGF2
15 isolated scaphocephaly 30.3 TWIST1 ERF
16 plagiocephaly 30.2 TWIST1 FGFR3 FGFR2 FGFR1
17 hypochondroplasia 30.2 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF1
18 radioulnar synostosis 30.2 TWIST1 FGFR3 FGFR2 FGFR1
19 pfeiffer syndrome 30.2 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
20 thanatophoric dysplasia, type i 30.2 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
21 bone disease 30.1 FGFR3 FGFR2 FGFR1 DCN
22 saethre-chotzen syndrome 30.1 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 EFNB1
23 achondroplasia, severe, with developmental delay and acanthosis nigricans 30.0 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF1
24 chromosome 2q35 duplication syndrome 30.0 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
25 tooth agenesis 29.9 MSX2 FGFR2 FGFR1 FGF8 FGF3 FGF10
26 jackson-weiss syndrome 29.8 VPREB1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
27 apert syndrome 29.8 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
28 muenke syndrome 29.7 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
29 cleft palate, isolated 29.6 TWIST1 TCOF1 MSX2 FGFR3 FGFR2 FGFR1
30 odontochondrodysplasia 29.6 MSX2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
31 crouzon syndrome with acanthosis nigricans 11.9
32 fontaine progeroid syndrome 11.6
33 craniofacial dysostosis with diaphyseal hyperplasia 11.5
34 craniofacial dysostosis arthrogryposis progeroid appearence 11.2
35 craniofacial dyssynostosis with short stature 11.1
36 carpenter syndrome 1 11.1
37 potocki-shaffer syndrome 11.0
38 kleeblattschaedel 11.0
39 exophthalmos 10.7
40 acanthosis nigricans 10.5
41 microtia 10.4 TCOF1 FGF3
42 strabismus 10.4
43 mechanical strabismus 10.4
44 intracranial hypertension 10.4
45 hemifacial hyperplasia 10.4 FGFR3 FGFR2 EFNB1
46 synovial chondromatosis 10.4 FGFR3 FGFR1 FGF2
47 dacryocystocele 10.4 FGFR3 FGFR2 FGF10
48 chronic inflammation of lacrimal passage 10.4 FGFR3 FGFR2 FGF10
49 sleep apnea 10.4
50 testicular spermatocytic seminoma 10.4 FGFR3 FGFR2

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



Diseases related to Crouzon Syndrome

Symptoms & Phenotypes for Crouzon Syndrome

Human phenotypes related to Crouzon Syndrome:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
3 multiple suture craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011324
4 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
5 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
8 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
9 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
10 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
11 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
12 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
13 turricephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000262
14 arnold-chiari malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002308
15 conjunctivitis 58 31 frequent (33%) Frequent (79-30%) HP:0000509
16 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
17 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
18 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
19 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
20 narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000189
21 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
22 melanocytic nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000995
23 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
24 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
25 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
26 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
27 convex nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000444
28 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
29 acanthosis nigricans 58 31 occasional (7.5%) Occasional (29-5%) HP:0000956
30 abnormal sacrum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005107
31 narrow internal auditory canal 58 31 occasional (7.5%) Occasional (29-5%) HP:0011386
32 intellectual disability 31 occasional (7.5%) HP:0001249
33 sleep apnea 31 HP:0010535
34 hearing impairment 58 Occasional (29-5%)
35 mandibular prognathia 31 HP:0000303
36 visual impairment 31 HP:0000505
37 abnormal skull morphology 58 Very frequent (99-80%)
38 dental crowding 31 HP:0000678
39 keratitis 31 HP:0000491
40 atresia of the external auditory canal 31 HP:0000413
41 abnormality of the cervical spine 31 HP:0003319
42 coronal craniosynostosis 31 HP:0004440
43 sagittal craniosynostosis 31 HP:0004442
44 lambdoidal craniosynostosis 31 HP:0004443
45 craniofacial dysostosis 31 HP:0004439
46 shallow orbits 31 HP:0000586
47 dysgerminoma 31 HP:0100621
48 seizure 31 HP:0001250
49 abnormal nasopharynx morphology 31 HP:0001739

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
frequent headaches
mental retardation, occasional

Respiratory Nasopharynx:
sleep apnea

Head And Neck Head:
brachycephaly
craniosynostosis

Head And Neck Ears:
conductive hearing loss
atretic external auditory canals

Head And Neck Mouth:
lateral palatal swellings

Skeletal Skull:
craniosynostosis (coronal, sagittal, lambdoid sutures)
calcification of stylohyoid ligament

Head And Neck Face:
frontal bossing
maxillary hypoplasia
mandibular prognathism

Head And Neck Eyes:
hypertelorism
optic atrophy
strabismus
proptosis
shallow orbits
more
Head And Neck Teeth:
dental crowding

Head And Neck Nose:
parrot-like nose

Genitourinary Internal Genitalia Female:
dysgerminoma (in 1 patient)

Skeletal Spine:
cervical spine abnormalities

Clinical features from OMIM®:

123500 (Updated 05-Apr-2021)

UMLS symptoms related to Crouzon Syndrome:


seizures; frequent headaches

GenomeRNAi Phenotypes related to Crouzon Syndrome according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.12 FGFR1 FGFR3
2 Decreased viability GR00221-A-2 10.12 FGFR1 FGFR3
3 Decreased viability GR00221-A-3 10.12 FGFR3
4 Decreased viability GR00249-S 10.12 DCN EFNB1 FGF10 FGF2 FGF7 FGFR2
5 Decreased viability GR00301-A 10.12 FGFR2
6 Decreased viability GR00342-S-1 10.12 FGFR2
7 Decreased viability GR00342-S-2 10.12 FGFR2
8 Decreased viability GR00342-S-3 10.12 FGFR2
9 Decreased viability GR00381-A-1 10.12 ARID1B
10 Decreased viability GR00386-A-1 10.12 EFNB1 FGF10 FGF2 FGF7 FGFR1 FGFR4
11 Decreased viability GR00402-S-2 10.12 EFNB1 TWIST1
12 Increased the percentage of infected cells GR00402-S-1 8.32 FGF8

MGI Mouse Phenotypes related to Crouzon Syndrome:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.46 ARID1B DCN EFNB1 ERF FGF10 FGF3
2 behavior/neurological MP:0005386 10.45 ARID1B DCN FGF10 FGF13 FGF2 FGF3
3 cellular MP:0005384 10.44 DCN EFNB1 ERF FGF10 FGF13 FGF2
4 hematopoietic system MP:0005397 10.44 ARID1B DCN EFNB1 ERF FGF1 FGF10
5 craniofacial MP:0005382 10.4 ARID1B DCN EFNB1 ERF FGF10 FGF8
6 mortality/aging MP:0010768 10.39 ARID1B DCN EFNB1 ERF FGF10 FGF13
7 homeostasis/metabolism MP:0005376 10.34 ARID1B DCN EFNB1 ERF FGF1 FGF10
8 hearing/vestibular/ear MP:0005377 10.33 EFNB1 FGF10 FGF2 FGF3 FGF8 FGFR1
9 nervous system MP:0003631 10.33 ARID1B EFNB1 ERF FGF1 FGF10 FGF13
10 immune system MP:0005387 10.32 ARID1B DCN EFNB1 FGF10 FGF3 FGF7
11 embryo MP:0005380 10.31 EFNB1 ERF FGF10 FGF3 FGF8 FGFR1
12 cardiovascular system MP:0005385 10.3 ARID1B ERF FGF10 FGF2 FGF8 FGFR1
13 digestive/alimentary MP:0005381 10.27 DCN EFNB1 FGF10 FGF8 FGFR1 FGFR2
14 limbs/digits/tail MP:0005371 10.26 EFNB1 ERF FGF10 FGF3 FGF8 FGFR1
15 integument MP:0010771 10.15 ARID1B DCN EFNB1 FGF10 FGF7 FGFR1
16 muscle MP:0005369 10.09 ARID1B DCN FGF10 FGF2 FGF8 FGFR1
17 normal MP:0002873 10.07 DCN ERF FGF1 FGF10 FGF3 FGF8
18 reproductive system MP:0005389 10.07 DCN EFNB1 ERF FGF10 FGF2 FGF3
19 renal/urinary system MP:0005367 9.97 ARID1B DCN ERF FGF10 FGF7 FGF8
20 skeleton MP:0005390 9.83 DCN EFNB1 ERF FGF10 FGF2 FGF3
21 respiratory system MP:0005388 9.76 DCN EFNB1 FGF10 FGF8 FGFR2 FGFR3
22 vision/eye MP:0005391 9.47 DCN EFNB1 FGF10 FGF2 FGF3 FGF7

Drugs & Therapeutics for Crouzon Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Recruiting NCT01144741

Search NIH Clinical Center for Crouzon Syndrome

Cochrane evidence based reviews: craniofacial dysostosis

Genetic Tests for Crouzon Syndrome

Genetic tests related to Crouzon Syndrome:

# Genetic test Affiliating Genes
1 Crouzon Syndrome 29 FGFR2

Anatomical Context for Crouzon Syndrome

MalaCards organs/tissues related to Crouzon Syndrome:

40
Eye, Bone, Brain, Heart, Tongue, Trachea, Bone Marrow
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Crouzon Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Bone Rostral Skull Membranous Bones Intramembrenous Osteocytes Affected by disease

Publications for Crouzon Syndrome

Articles related to Crouzon Syndrome:

(show top 50) (show all 590)
# Title Authors PMID Year
1
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 6 57 54 61
7874170 1994
2
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 54 6 57 61
7987400 1994
3
FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 57 6
26362256 2015
4
Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts. 61 6 54
10851026 2000
5
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 61 57 54
10712195 2000
6
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 57 61 54
7493034 1995
7
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 61 6 54
7581378 1995
8
Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome. 6 54 61
7607643 1995
9
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 61 6 54
8528214 1995
10
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. 61 54 6
7773284 1995
11
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 54 61 6
7719345 1995
12
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes. 61 57
20635358 2010
13
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. 6 61
9152842 1997
14
Mutation detection in FGFR2 craniosynostosis syndromes. 61 6
9048930 1997
15
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. 6 61
8644708 1996
16
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis. 6 61
8522336 1995
17
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 61 6
7655462 1995
18
A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. 61 57
7920632 1994
19
Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. 57 61
1633640 1992
20
Germinal mosaicism in Crouzon syndrome. 61 57
2323783 1990
21
Germinal mosaicism in Crouzon syndrome. 57 61
3359675 1988
22
Completely cartilaginous trachea in a child with Crouzon syndrome. 57 61
6546324 1984
23
Older paternal age and fresh gene mutation: data on additional disorders. 57 61
1110452 1975
24
An autosomal recessive form of craniofacial dysostosis (the Crouzon syndrome). 61 57
4697859 1973
25
Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis. 57
17132737 2006
26
Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. 6
16158432 2005
27
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 6
16061565 2005
28
Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G). 6
15286168 2004
29
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 6
10633130 2000
30
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 6
10394936 1999
31
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 6
9677057 1998
32
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. 6
9385368 1997
33
Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development. 6
9169049 1997
34
FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 6
8957519 1996
35
Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. 57
7674004 1995
36
Craniofacial syndromes: no such thing as a single gene disease. 6
7719329 1995
37
Insidious onset of familial craniosynostosis. 57
8399270 1993
38
Related fibroblast growth factor receptor genes exist in the human genome. 6
2172978 1990
39
Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors. 6
1697263 1990
40
Delayed and progressive multiple suture craniosynostosis. 57
2320213 1990
41
Variable expressivity of Crouzon's syndrome within a family. 57
265609 1977
42
Cranio-facial Dysostosis in a Dorset Family. 57
21032436 1966
43
Craniofacial dysostosis of Crouzon; a case report and pedigree with emphasis on heredity. 57
13613871 1959
44
Craniofacial dysostosis: Crouzon's disease. 57
13613870 1959
45
[A family of pseudo-Crouzon]. 57
14390947 1955
46
[Cranial dysostosis with cerebriform calva]. 57
13082990 1953
47
Hereditary craniofacial dysplasia. 57
14914838 1952
48
Cranio-facial dysostosis of Crouzon; report of a case in which the malformation occurred in four generations. 57
15404650 1950
49
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 54 61
19622626 2009
50
[FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient]. 61 54
18393251 2008

Variations for Crouzon Syndrome

ClinVar genetic disease variations for Crouzon Syndrome:

6 (show top 50) (show all 143)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR2 NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His) SNV Pathogenic 13264 rs121918489 GRCh37: 10:123276899-123276899
GRCh38: 10:121517385-121517385
2 FGFR2 NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys) SNV Pathogenic 13265 rs121918490 GRCh37: 10:123276856-123276856
GRCh38: 10:121517342-121517342
3 FGFR2 NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) SNV Pathogenic 13269 rs121918492 GRCh37: 10:123276886-123276886
GRCh38: 10:121517372-121517372
4 FGFR2 NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys) SNV Pathogenic 13270 rs121918493 GRCh37: 10:123276934-123276934
GRCh38: 10:121517420-121517420
5 FGFR2 NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) SNV Pathogenic 13271 rs121918494 GRCh37: 10:123276877-123276877
GRCh38: 10:121517363-121517363
6 FGFR2 NM_000141.5(FGFR2):c.1026C>G (p.Cys342Trp) SNV Pathogenic 13275 rs121918496 GRCh37: 10:123276891-123276891
GRCh38: 10:121517377-121517377
7 FGFR2 NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) SNV Pathogenic 13276 rs121918497 GRCh37: 10:123279566-123279566
GRCh38: 10:121520052-121520052
8 FGFR2 NM_000141.5(FGFR2):c.874A>G (p.Lys292Glu) SNV Pathogenic 13282 rs121918500 GRCh37: 10:123279558-123279558
GRCh38: 10:121520044-121520044
9 FGFR2 NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg) SNV Pathogenic 13283 rs121918501 GRCh37: 10:123279564-123279564
GRCh38: 10:121520050-121520050
10 FGFR2 NM_000141.5(FGFR2):c.868T>G (p.Trp290Gly) SNV Pathogenic 13284 rs121918501 GRCh37: 10:123279564-123279564
GRCh38: 10:121520050-121520050
11 FGFR2 NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) SNV Pathogenic 13295 rs121918507 GRCh37: 10:123258105-123258105
GRCh38: 10:121498591-121498591
12 FGFR2 NM_000141.5(FGFR2):c.1009G>C (p.Ala337Pro) SNV Pathogenic 29853 rs387906676 GRCh37: 10:123276908-123276908
GRCh38: 10:121517394-121517394
13 FGFR2 NM_000141.5(FGFR2):c.1012G>C (p.Gly338Arg) SNV Pathogenic 374816 rs1057519043 GRCh37: 10:123276905-123276905
GRCh38: 10:121517391-121517391
14 FGFR2 NM_000141.5(FGFR2):c.923A>G (p.Tyr308Cys) SNV Pathogenic 374813 rs1057519040 GRCh37: 10:123279509-123279509
GRCh38: 10:121519995-121519995
15 FGFR2 NM_000141.5(FGFR2):c.869G>C (p.Trp290Ser) SNV Pathogenic 374812 rs1057519039 GRCh37: 10:123279563-123279563
GRCh38: 10:121520049-121520049
16 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) SNV Pathogenic 374817 rs1057519044 GRCh37: 10:123276904-123276904
GRCh38: 10:121517390-121517390
17 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) SNV Pathogenic 478046 rs1554927408 GRCh37: 10:123274768-123274768
GRCh38: 10:121515254-121515254
18 FGFR2 NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) SNV Pathogenic 374820 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
19 FGFR2 NM_000141.5(FGFR2):c.812G>T (p.Gly271Val) SNV Pathogenic 573667 rs1564919048 GRCh37: 10:123279620-123279620
GRCh38: 10:121520106-121520106
20 FGFR2 NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) SNV Pathogenic 13289 rs121918504 GRCh37: 10:123276974-123276974
GRCh38: 10:121517460-121517460
21 FGFR2 NM_000141.5(FGFR2):c.826T>G (p.Phe276Val) SNV Pathogenic 374809 rs1057519036 GRCh37: 10:123279606-123279606
GRCh38: 10:121520092-121520092
22 FGFR2 NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) SNV Pathogenic 13266 rs121918488 GRCh37: 10:123276893-123276893
GRCh38: 10:121517379-121517379
23 FGFR2 NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) SNV Pathogenic 13267 rs121918488 GRCh37: 10:123276893-123276893
GRCh38: 10:121517379-121517379
24 FGFR2 NM_022970.3(FGFR2):c.1087+1366A>G SNV Pathogenic 13299 rs879253721 GRCh37: 10:123276830-123276830
GRCh38: 10:121517316-121517316
25 FGFR2 NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) SNV Pathogenic 13290 rs121918505 GRCh37: 10:123279633-123279633
GRCh38: 10:121520119-121520119
26 TCOF1 NM_000356.4(TCOF1):c.3739dup (p.Glu1247fs) Duplication Pathogenic 419066 rs1554080460 GRCh37: 5:149776031-149776032
GRCh38: 5:150396468-150396469
27 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic 13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
28 FGFR2 NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) SNV Pathogenic 449024 rs1434545235 GRCh37: 10:123325014-123325014
GRCh38: 10:121565500-121565500
29 FGFR2 NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) SNV Pathogenic 265431 rs776587763 GRCh37: 10:123279599-123279599
GRCh38: 10:121520085-121520085
30 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic 13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
31 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) SNV Pathogenic 13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
32 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
33 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) SNV Pathogenic 13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
34 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic 13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
35 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic 13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
36 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Pathogenic 13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
37 FGFR2 NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly) SNV Pathogenic/Likely pathogenic 374815 rs1057519042 GRCh37: 10:123276910-123276910
GRCh38: 10:121517396-121517396
38 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) SNV Likely pathogenic 374817 rs1057519044 GRCh37: 10:123276904-123276904
GRCh38: 10:121517390-121517390
39 FGFR2 NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys) SNV Likely pathogenic 374811 rs1057519038 GRCh37: 10:123279590-123279590
GRCh38: 10:121520076-121520076
40 FGFR2 NM_000141.5(FGFR2):c.1645A>C (p.Asn549His) SNV Likely pathogenic 374821 rs1057519045 GRCh37: 10:123258036-123258036
GRCh38: 10:121498522-121498522
41 FGFR2 NM_022970.3(FGFR2):c.1087+1366A>G SNV Likely pathogenic 13299 rs879253721 GRCh37: 10:123276830-123276830
GRCh38: 10:121517316-121517316
42 FGFR2 NM_000141.5(FGFR2):c.824_829dup (p.Glu275_Phe276dup) Duplication Likely pathogenic 981191 GRCh37: 10:123279602-123279603
GRCh38: 10:121520088-121520089
43 FGFR2 NM_000141.5(FGFR2):c.625-8C>T SNV Uncertain significance 877715 GRCh37: 10:123298237-123298237
GRCh38: 10:121538723-121538723
44 FGFR2 NM_000141.5(FGFR2):c.-108C>T SNV Uncertain significance 877867 GRCh37: 10:123353439-123353439
GRCh38: 10:121593925-121593925
45 FGFR2 NM_000141.5(FGFR2):c.-173G>A SNV Uncertain significance 879853 GRCh37: 10:123357498-123357498
GRCh38: 10:121597984-121597984
46 FGFR2 NM_000141.5(FGFR2):c.-196G>A SNV Uncertain significance 877914 GRCh37: 10:123357521-123357521
GRCh38: 10:121598007-121598007
47 FGFR2 NM_000141.5(FGFR2):c.-237C>A SNV Uncertain significance 879901 GRCh37: 10:123357562-123357562
GRCh38: 10:121598048-121598048
48 FGFR2 NM_000141.5(FGFR2):c.-590G>C SNV Uncertain significance 879590 GRCh37: 10:123357915-123357915
GRCh38: 10:121598401-121598401
49 FGFR2 NM_000141.5(FGFR2):c.-603C>T SNV Uncertain significance 879946 GRCh37: 10:123357928-123357928
GRCh38: 10:121598414-121598414
50 FGFR2 NM_000141.5(FGFR2):c.*1240A>C SNV Uncertain significance 878945 GRCh37: 10:123238131-123238131
GRCh38: 10:121478617-121478617

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

72 (show all 36)
# Symbol AA change Variation ID SNP ID
1 FGFR2 p.Tyr105Cys VAR_004112 rs143454523
2 FGFR2 p.Ser267Pro VAR_004118 rs121918505
3 FGFR2 p.Phe276Val VAR_004120 rs105751903
4 FGFR2 p.Cys278Phe VAR_004121 rs776587763
5 FGFR2 p.Gln289Pro VAR_004123 rs121918497
6 FGFR2 p.Trp290Arg VAR_004125 rs121918501
7 FGFR2 p.Lys292Glu VAR_004126 rs121918500
8 FGFR2 p.Tyr301Cys VAR_004127 rs155493068
9 FGFR2 p.Tyr328Cys VAR_004130 rs121918493
10 FGFR2 p.Asn331Ile VAR_004131
11 FGFR2 p.Gly338Glu VAR_004133 rs105751904
12 FGFR2 p.Tyr340His VAR_004134 rs121918489
13 FGFR2 p.Thr341Pro VAR_004135 rs121918495
14 FGFR2 p.Cys342Phe VAR_004136 rs121918487
15 FGFR2 p.Cys342Arg VAR_004137 rs121918488
16 FGFR2 p.Cys342Ser VAR_004138 rs121918488
17 FGFR2 p.Cys342Tyr VAR_004139 rs121918487
18 FGFR2 p.Ala344Gly VAR_004140 rs121918492
19 FGFR2 p.Ala344Pro VAR_004141
20 FGFR2 p.Ser347Cys VAR_004142 rs121918494
21 FGFR2 p.Ser351Cys VAR_004143 rs121918502
22 FGFR2 p.Ser354Cys VAR_004144 rs121918490
23 FGFR2 p.Val359Phe VAR_004146
24 FGFR2 p.Gly384Arg VAR_004147 rs155492740
25 FGFR2 p.Gly338Arg VAR_015011 rs105751904
26 FGFR2 p.Pro263Leu VAR_017261 rs779326224
27 FGFR2 p.Cys278Tyr VAR_017263 rs776587763
28 FGFR2 p.Tyr281Cys VAR_017264 rs105751903
29 FGFR2 p.Ile288Ser VAR_017265
30 FGFR2 p.Trp290Gly VAR_017266 rs121918501
31 FGFR2 p.Ala337Pro VAR_017268 rs387906676
32 FGFR2 p.Cys342Trp VAR_017271 rs121918496
33 FGFR2 p.Ser354Tyr VAR_017272
34 FGFR2 p.Ala362Ser VAR_017273
35 FGFR2 p.Asn549His VAR_017276 rs105751904
36 FGFR2 p.Arg678Gly VAR_017281

Expression for Crouzon Syndrome

Search GEO for disease gene expression data for Crouzon Syndrome.

Pathways for Crouzon Syndrome

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

(show top 50) (show all 60)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.08 TWIST1 FRS2 FGFR4 FGFR3 FGFR2 FGFR1
2
Show member pathways
13.89 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
3
Show member pathways
13.88 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
4
Show member pathways
13.83 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
5
Show member pathways
13.81 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
6
Show member pathways
13.66 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
7
Show member pathways
13.66 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
8
Show member pathways
13.64 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
9
Show member pathways
13.58 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
10
Show member pathways
13.53 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
11
Show member pathways
13.51 TWIST1 FRS2 FGFR4 FGFR3 FGFR2 FGFR1
12
Show member pathways
13.45 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
13
Show member pathways
13.43 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
14
Show member pathways
13.41 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
15
Show member pathways
13.28 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
16
Show member pathways
13.24 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
17
Show member pathways
13.22 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
18
Show member pathways
13.16 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
19 13.02 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
20
Show member pathways
13.01 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
21
Show member pathways
12.95 FGFR2 FGFR1 FGF8 FGF7 FGF3 FGF2
22 12.94 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
23
Show member pathways
12.9 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
24
Show member pathways
12.87 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
25
Show member pathways
12.86 FGFR2 FGFR1 FGF8 FGF7 FGF3 FGF2
26
Show member pathways
12.86 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
27 12.74 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
28
Show member pathways
12.66 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
29
Show member pathways
12.58 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
30
Show member pathways
12.57 FGFR4 FGFR3 FGFR2 FGFR1 FGF2
31 12.54 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
32
Show member pathways
12.49 FGFR4 FGFR3 FGFR2 FGFR1
33
Show member pathways
12.45 FGFR4 FGFR3 FGFR2 FGFR1
34
Show member pathways
12.42 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
35 12.41 TWIST1 FRS2 FGFR1 FGF2 DCN
36 12.31 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF2
37
Show member pathways
12.28 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
38
Show member pathways
12.28 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
39
Show member pathways
12.26 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
40 12.25 FGFR4 FGFR3 FGFR2 FGFR1 FGF2
41
Show member pathways
12.21 FGFR4 FGFR3 FGFR2 FGFR1
42 12.21 FGF7 FGF3 FGF2 FGF13 FGF10
43 12.14 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
44
Show member pathways
12.09 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
45 12.06 FGFR4 FGFR3 FGFR2 FGFR1 FGF2 FGF1
46 12.05 MSX2 FGF8 FGF2 FGF10 DCN
47
Show member pathways
12.02 FRS2 FGFR1 FGF8 FGF2 FGF1
48 12.01 FGFR4 FGFR3 FGFR1 FGF8 FGF2 FGF10
49 11.88 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
50
Show member pathways
11.81 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8

GO Terms for Crouzon Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.1 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
2 extracellular space GO:0005615 9.76 VPREB1 FGF8 FGF7 FGF3 FGF2 FGF10
3 extracellular region GO:0005576 9.44 VPREB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
4 receptor complex GO:0043235 9.26 FGFR4 FGFR3 FGFR2 FGFR1

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

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.23 TWIST1 FGF8 FGF7 FGF3 FGF2 FGF10
2 multicellular organism development GO:0007275 10.22 TWIST1 MSX2 FGFR4 FGFR3 FGFR2 FGFR1
3 positive regulation of gene expression GO:0010628 10.13 TWIST1 FGFR4 FGF8 FGF7 FGF3 FGF2
4 positive regulation of cell proliferation GO:0008284 10.07 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF7
5 cell-cell signaling GO:0007267 10.04 FGFR3 FGFR2 FGF3 FGF13 FGF10 EFNB1
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.02 FGFR4 FGFR3 FGFR2 FGF8 FGF2 FGF10
7 angiogenesis GO:0001525 10.01 FGFR2 FGF2 FGF10 FGF1
8 positive regulation of protein phosphorylation GO:0001934 10.01 FGF8 FGF7 FGF3 FGF2 FGF10 FGF1
9 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10 FRS2 FGFR4 FGFR3 FGFR2 FGFR1
10 protein autophosphorylation GO:0046777 9.99 FGFR4 FGFR3 FGFR2 FGFR1
11 positive regulation of MAPK cascade GO:0043410 9.99 FGFR3 FGFR2 FGFR1 FGF2 FGF10
12 regulation of cell migration GO:0030334 9.99 FGF8 FGF7 FGF3 FGF2 FGF10 FGF1
13 peptidyl-tyrosine phosphorylation GO:0018108 9.97 FGFR4 FGFR3 FGFR2 FGFR1
14 activation of MAPK activity GO:0000187 9.96 FRS2 FGF2 FGF10 FGF1
15 wound healing GO:0042060 9.96 FGFR2 FGF2 FGF10 FGF1 DCN
16 positive regulation of kinase activity GO:0033674 9.92 FGFR4 FGFR3 FGFR2 FGFR1
17 neuron migration GO:0001764 9.91 TWIST1 FGFR1 FGF13
18 positive chemotaxis GO:0050918 9.91 FGF8 FGF7 FGF2 FGF10
19 lung development GO:0030324 9.91 FGFR2 FGF8 FGF7 FGF2 FGF10 FGF1
20 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.9 FGF8 FGF7 FGF10
21 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.9 FGFR1 FGF2 DCN
22 positive regulation of protein kinase B signaling GO:0051897 9.9 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
23 positive regulation of epithelial cell proliferation GO:0050679 9.88 TWIST1 FGFR2 FGF7 FGF2 FGF10 FGF1
24 positive regulation of MAP kinase activity GO:0043406 9.87 FGFR1 FGF2 FGF1
25 inner ear morphogenesis GO:0042472 9.87 FGFR2 FGF8 FGF10
26 bone development GO:0060348 9.87 TWIST1 FGFR2 FGF8
27 animal organ morphogenesis GO:0009887 9.86 FGFR2 FGF8 FGF7 FGF3 FGF2 FGF10
28 odontogenesis GO:0042476 9.85 TWIST1 FGFR2 FGF8
29 hair follicle morphogenesis GO:0031069 9.83 FGFR2 FGF7 FGF10
30 embryonic pattern specification GO:0009880 9.82 FGFR2 FGF10 EFNB1
31 branching involved in salivary gland morphogenesis GO:0060445 9.8 FGFR2 FGF8 FGF7 FGF10
32 positive regulation of cell division GO:0051781 9.8 FGFR2 FGF8 FGF7 FGF3 FGF2 FGF1
33 positive regulation of phospholipase activity GO:0010518 9.79 FGFR3 FGFR2 FGFR1
34 otic vesicle formation GO:0030916 9.76 FGFR2 FGF8 FGF10
35 organ induction GO:0001759 9.76 FRS2 FGF8 FGF10 FGF1
36 embryonic digestive tract morphogenesis GO:0048557 9.73 FGFR2 FGF10
37 positive regulation of DNA biosynthetic process GO:2000573 9.73 FGFR4 FGF2
38 positive regulation of keratinocyte proliferation GO:0010838 9.73 FGF7 FGF10
39 positive regulation of phospholipase C activity GO:0010863 9.72 FGFR1 FGF2
40 mesonephros development GO:0001823 9.72 FGF8 FGF10
41 positive regulation of keratinocyte migration GO:0051549 9.72 FGF7 FGF10
42 limb bud formation GO:0060174 9.71 FGFR2 FGF10
43 organ growth GO:0035265 9.71 FGFR2 FGF10
44 endochondral bone growth GO:0003416 9.71 FGFR3 FGFR2
45 bud elongation involved in lung branching GO:0060449 9.71 FGFR2 FGF10
46 epidermis morphogenesis GO:0048730 9.7 FGFR2 FGF10
47 lacrimal gland development GO:0032808 9.7 FGFR2 FGF10
48 fibroblast growth factor receptor signaling pathway GO:0008543 9.7 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
49 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.69 FRS2 FGFR2
50 cranial suture morphogenesis GO:0060363 9.69 TWIST1 MSX2

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.8 FGFR4 FGFR2 FGFR1 FGF7 FGF2 FGF10
2 protein tyrosine kinase activity GO:0004713 9.76 FGFR4 FGFR3 FGFR2 FGFR1
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.73 FGFR4 FGFR3 FGFR2 FGFR1
4 chemoattractant activity GO:0042056 9.71 FGF8 FGF7 FGF2 FGF10
5 growth factor activity GO:0008083 9.7 FGF8 FGF7 FGF3 FGF2 FGF13 FGF10
6 fibroblast growth factor binding GO:0017134 9.62 FGFR4 FGFR3 FGFR2 FGFR1
7 type 2 fibroblast growth factor receptor binding GO:0005111 9.54 FGF8 FGF7 FGF10
8 receptor-receptor interaction GO:0090722 9.48 FGFR1 FGF2
9 fibroblast growth factor-activated receptor activity GO:0005007 9.26 FGFR4 FGFR3 FGFR2 FGFR1
10 fibroblast growth factor receptor binding GO:0005104 9.17 FRS2 FGF8 FGF7 FGF3 FGF2 FGF10

Sources for Crouzon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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