CS
MCID: CRZ001
MIFTS: 68

Crouzon Syndrome (CS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Crouzon Syndrome

MalaCards integrated aliases for Crouzon Syndrome:

Name: Crouzon Syndrome 56 12 74 52 25 73 36 29 13 54 6 15 39
Crouzon Craniofacial Dysostosis 56 52 25 58 73
Craniofacial Dysostosis 12 74 25 43 32
Cfd1 56 52 25 73
Craniofacial Dysostosis Type 1 52 25 71
Crouzon Disease 52 25 58
Crouzon's Disease 12 25
Craniofacial Dysostosis, Type I; Cfd1 56
Craniofacial Dysostosis Syndrome 25
Craniofacial Dysostosis, Type I 56
Craniofacial Dysostosis Type I 73
Craniofacial Dysarthrosis 25
Cs 73

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:

56
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

Genetics Home Reference : 25 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 exophthalmos 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. The drugs Clavulanate and Amoxicillin have been mentioned in the context of this disorder. Affiliated tissues include Bone, eye and skin, and related phenotypes are abnormal facial shape and frontal bossing

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.

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 493)
# Related Disease Score Top Affiliating Genes
1 exophthalmos 31.8 TGFB1 FGFR3 FGFR2
2 fgfr craniosynostosis syndromes 31.3 FGFR3 FGFR2 FGFR1
3 hypertelorism 31.2 TWIST1 FGFR2 EFNB1 ALX3
4 syndromic craniosynostosis 31.1 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 ERF
5 hydrocephalus 30.9 TWIST1 TGFB1 FGFR3 FGFR2 FGFR1
6 achondroplasia 30.9 MSX2 FGFR3 FGFR2 FGFR1 FGF3
7 coloboma of macula 30.8 TCOF1 FGFR1 FGF8 ALX3
8 choanal atresia, posterior 30.8 FGFR2 FGFR1 FGF8
9 synostosis 30.7 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
10 antley-bixler syndrome 30.6 FGFR3 FGFR2 FGFR1
11 dysostosis 30.6 TWIST1 TCOF1 MSX2 FGFR3 FGFR2 FGFR1
12 parietal foramina 30.5 TWIST1 MSX2 FGFR3 FGF8 ALX3
13 plagiocephaly 30.4 TWIST1 FGFR3 FGFR2 FGFR1
14 bone disease 30.4 FGFR3 FGFR2 FGFR1 DCN BMP6
15 scoliosis 30.4 TGFB1 FGFR3 FGFR2 FGF2 DCN
16 thanatophoric dysplasia, type i 30.4 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
17 radioulnar synostosis 30.4 TWIST1 FGFR3 FGFR2 FGFR1
18 pfeiffer syndrome 30.4 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
19 craniosynostosis 30.3 TWIST1 MSX2 FGFR4 FGFR3 FGFR2 FGFR1
20 hypochondroplasia 30.3 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF1
21 achondroplasia, severe, with developmental delay and acanthosis nigricans 30.3 FGFR4 FGFR3 FGFR2 FGFR1 FGF1
22 jackson-weiss syndrome 30.1 MSX2 FGFR3 FGFR2 FGFR1 FGF8 FGF3
23 myelofibrosis 30.1 TGFB1 FGFR1 FGF2 BMP6
24 tooth agenesis 30.0 MSX2 FGFR2 FGFR1 FGF8 FGF3 FGF10
25 saethre-chotzen syndrome 30.0 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 EFNB1
26 chromosome 2q35 duplication syndrome 29.9 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
27 cleft palate, isolated 29.8 TWIST1 TCOF1 MSX2 FGFR3 FGFR2 FGFR1
28 odontochondrodysplasia 29.7 MSX2 FGFR4 FGFR3 FGFR2 FGFR1 FGF2
29 apert syndrome 29.6 TWIST1 MSX2 FGFR4 FGFR3 FGFR2 FGFR1
30 muenke syndrome 29.4 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
31 crouzon syndrome with acanthosis nigricans 12.9
32 craniofacial dysostosis with diaphyseal hyperplasia 12.7
33 craniofacial dysostosis arthrogryposis progeroid appearence 12.3
34 fontaine progeroid syndrome 12.3
35 cockayne syndrome 12.1
36 cowden syndrome 12.1
37 xeroderma pigmentosum, complementation group d 12.0
38 xeroderma pigmentosum, complementation group g 12.0
39 xeroderma pigmentosum, complementation group f 11.8
40 xeroderma pigmentosum, complementation group b 11.8
41 lung cancer 11.7
42 acth-independent macronodular adrenal hyperplasia 11.7
43 primary pigmented nodular adrenocortical disease 11.7
44 craniofacial dyssynostosis with short stature 11.6
45 potocki-shaffer syndrome 11.6
46 xeroderma pigmentosum-cockayne syndrome complex 11.5
47 hypertrophic cardiomyopathy 11.5
48 cardiogenic shock 11.5
49 costello syndrome 11.5
50 cockayne syndrome a 11.5

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 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
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 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
6 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
7 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
8 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
9 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
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 narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000189
19 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
20 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
21 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
22 melanocytic nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000995
23 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
24 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
25 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
26 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
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 hearing impairment 58 Occasional (29-5%)
34 mandibular prognathia 31 HP:0000303
35 visual impairment 31 HP:0000505
36 abnormality of the skull 58 Very frequent (99-80%)
37 dental crowding 31 HP:0000678
38 keratitis 31 HP:0000491
39 sleep apnea 31 HP:0010535
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 abnormality of the nasopharynx 31 HP:0001739

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
optic atrophy
strabismus
proptosis
shallow orbits
more
Head And Neck Head:
brachycephaly
craniosynostosis

Head And Neck Teeth:
dental crowding

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

Neurologic Central Nervous System:
seizures
frequent headaches
mental retardation, occasional

Head And Neck Face:
frontal bossing
maxillary hypoplasia
mandibular prognathism

Respiratory Nasopharynx:
sleep apnea

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

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 10.07 FGFR1 FGFR3
2 Decreased viability GR00221-A-2 10.07 FGFR1 FGFR3
3 Decreased viability GR00221-A-3 10.07 FGFR3
4 Decreased viability GR00249-S 10.07 DCN EFNB1 FGF10 FGF2 FGFR2 FGFR3
5 Decreased viability GR00301-A 10.07 FGFR2
6 Decreased viability GR00342-S-1 10.07 FGFR2
7 Decreased viability GR00342-S-2 10.07 FGFR2
8 Decreased viability GR00342-S-3 10.07 FGFR2
9 Decreased viability GR00381-A-1 10.07 ARID1B
10 Decreased viability GR00386-A-1 10.07 EFNB1 FGF10 FGF2 FGFR1 FGFR4
11 Decreased viability GR00402-S-2 10.07 EFNB1 TWIST1
12 Increased the percentage of infected cells GR00402-S-1 8.32 FGF8

MGI Mouse Phenotypes related to Crouzon Syndrome:

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.49 ALX3 ARID1B DCN FGF10 FGF13 FGF2
2 growth/size/body region MP:0005378 10.49 ALX3 ARID1B BMP6 DCN EFNB1 ERF
3 cellular MP:0005384 10.47 ALX3 DCN EFNB1 ERF FGF10 FGF13
4 mortality/aging MP:0010768 10.41 ALX3 ARID1B DCN EFNB1 ERF FGF10
5 craniofacial MP:0005382 10.4 ALX3 DCN EFNB1 ERF FGF10 FGF8
6 hematopoietic system MP:0005397 10.38 ARID1B DCN EFNB1 ERF FGF1 FGF10
7 homeostasis/metabolism MP:0005376 10.37 ALX3 ARID1B DCN EFNB1 ERF FGF1
8 digestive/alimentary MP:0005381 10.36 ALX3 DCN EFNB1 FGF10 FGF8 FGFR1
9 embryo MP:0005380 10.35 ALX3 EFNB1 ERF FGF10 FGF3 FGF8
10 nervous system MP:0003631 10.33 ALX3 ARID1B EFNB1 ERF FGF1 FGF10
11 cardiovascular system MP:0005385 10.3 ARID1B ERF FGF10 FGF2 FGF8 FGFR1
12 immune system MP:0005387 10.29 ARID1B DCN EFNB1 FGF10 FGF3 FGF8
13 endocrine/exocrine gland MP:0005379 10.27 ALX3 DCN EFNB1 FGF10 FGF8 FGFR1
14 hearing/vestibular/ear MP:0005377 10.25 EFNB1 FGF10 FGF2 FGF3 FGF8 FGFR1
15 limbs/digits/tail MP:0005371 10.22 ALX3 EFNB1 FGF10 FGF3 FGF8 FGFR1
16 integument MP:0010771 10.15 ARID1B DCN EFNB1 FGF10 FGFR1 FGFR2
17 muscle MP:0005369 10.13 ARID1B DCN FGF10 FGF2 FGF8 FGFR1
18 reproductive system MP:0005389 10.13 ALX3 BMP6 DCN EFNB1 ERF FGF10
19 normal MP:0002873 10.07 DCN ERF FGF1 FGF10 FGF3 FGF8
20 renal/urinary system MP:0005367 9.97 ARID1B DCN ERF FGF10 FGF8 FGFR1
21 skeleton MP:0005390 9.91 ALX3 ARID1B BMP6 DCN EFNB1 ERF
22 respiratory system MP:0005388 9.85 ALX3 DCN EFNB1 FGF10 FGF8 FGFR2
23 vision/eye MP:0005391 9.4 ALX3 DCN EFNB1 FGF10 FGF2 FGF8

Drugs & Therapeutics for Crouzon Syndrome

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clavulanate Approved, Vet_approved 58001-44-8 5280980
2
Amoxicillin Approved, Vet_approved 26787-78-0 33613
3 Anti-Bacterial Agents
4 Amoxicillin-Potassium Clavulanate Combination
5 Antibiotics, Antitubercular
6 Anti-Infective Agents
7 beta-Lactamase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Efficiency of Postoperative Antibiotics in Orthognathic Surgery: A Prospective, Randomized, Double-blind, Placebo-controlled Clinical Trial Unknown status NCT02740647 Amoxicillin Clavulanate;Placebo
2 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
Bone, Eye, Skin, Brain, Heart, Testes, Tongue
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 557)
# Title Authors PMID Year
1
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 61 54 6 56
7874170 1994
2
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 56 6 54 61
7987400 1994
3
FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 56 6
26362256 2015
4
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 54 56 61
10712195 2000
5
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 54 56 61
7493034 1995
6
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 61 54 6
7581378 1995
7
Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome. 6 54 61
7607643 1995
8
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 6 54 61
8528214 1995
9
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. 6 61 54
7773284 1995
10
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 6 61 54
7719345 1995
11
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 56
20635358 2010
12
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. 61 6
9152842 1997
13
Mutation detection in FGFR2 craniosynostosis syndromes. 6 61
9048930 1997
14
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. 61 6
8644708 1996
15
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis. 61 6
8522336 1995
16
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 6 61
7655462 1995
17
A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. 61 56
7920632 1994
18
Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. 61 56
1633640 1992
19
Germinal mosaicism in Crouzon syndrome. 61 56
2323783 1990
20
Germinal mosaicism in Crouzon syndrome. 56 61
3359675 1988
21
Completely cartilaginous trachea in a child with Crouzon syndrome. 56 61
6546324 1984
22
Older paternal age and fresh gene mutation: data on additional disorders. 61 56
1110452 1975
23
An autosomal recessive form of craniofacial dysostosis (the Crouzon syndrome). 56 61
4697859 1973
24
Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis. 56
17132737 2006
25
Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. 6
16158432 2005
26
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 6
16061565 2005
27
Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G). 6
15286168 2004
28
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 6
10633130 2000
29
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 6
10394936 1999
30
FGFR Craniosynostosis Syndromes Overview 6
20301628 1998
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. 56
7674004 1995
36
Craniofacial syndromes: no such thing as a single gene disease. 6
7719329 1995
37
Insidious onset of familial craniosynostosis. 56
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. 56
2320213 1990
41
Variable expressivity of Crouzon's syndrome within a family. 56
265609 1977
42
Cranio-facial Dysostosis in a Dorset Family. 56
21032436 1966
43
Craniofacial dysostosis of Crouzon; a case report and pedigree with emphasis on heredity. 56
13613871 1959
44
Craniofacial dysostosis: Crouzon's disease. 56
13613870 1959
45
[A family of pseudo-Crouzon]. 56
14390947 1955
46
[Cranial dysostosis with cerebriform calva]. 56
13082990 1953
47
Hereditary craniofacial dysplasia. 56
14914838 1952
48
Cranio-facial dysostosis of Crouzon; report of a case in which the malformation occurred in four generations. 56
15404650 1950
49
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 61 54
19622626 2009
50
[FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient]. 54 61
18393251 2008

Variations for Crouzon Syndrome

ClinVar genetic disease variations for Crouzon Syndrome:

6 (show top 50) (show all 137) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCOF1 NM_000356.4(TCOF1):c.3739dup (p.Glu1247fs)duplication Pathogenic 419066 rs1554080460 5:149776031-149776032 5:150396468-150396469
2 FGFR2 NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys)SNV Pathogenic 449024 rs1434545235 10:123325014-123325014 10:121565500-121565500
3 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg)SNV Pathogenic 478046 rs1554927408 10:123274768-123274768 10:121515254-121515254
4 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)SNV Pathogenic 13263 rs121918487 10:123276892-123276892 10:121517378-121517378
5 FGFR2 NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His)SNV Pathogenic 13264 rs121918489 10:123276899-123276899 10:121517385-121517385
6 FGFR2 NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys)SNV Pathogenic 13265 rs121918490 10:123276856-123276856 10:121517342-121517342
7 FGFR2 NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)SNV Pathogenic 13266 rs121918488 10:123276893-123276893 10:121517379-121517379
8 FGFR2 NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)SNV Pathogenic 13267 rs121918488 10:123276893-123276893 10:121517379-121517379
9 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)SNV Pathogenic 13268 rs121918491 10:123276885-123276885 10:121517371-121517371
10 FGFR2 NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly)SNV Pathogenic 13269 rs121918492 10:123276886-123276886 10:121517372-121517372
11 FGFR2 NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys)SNV Pathogenic 13270 rs121918493 10:123276934-123276934 10:121517420-121517420
12 FGFR2 NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)SNV Pathogenic 13276 rs121918497 10:123279566-123279566 10:121520052-121520052
13 FGFR2 NM_000141.5(FGFR2):c.874A>G (p.Lys292Glu)SNV Pathogenic 13282 rs121918500 10:123279558-123279558 10:121520044-121520044
14 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)SNV Pathogenic 13272 rs79184941 10:123279677-123279677 10:121520163-121520163
15 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)SNV Pathogenic 13273 rs77543610 10:123279674-123279674 10:121520160-121520160
16 FGFR2 NM_000141.5(FGFR2):c.1026C>G (p.Cys342Trp)SNV Pathogenic 13275 rs121918496 10:123276891-123276891 10:121517377-121517377
17 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)SNV Pathogenic 13277 rs121913478 10:123274794-123274794 10:121515280-121515280
18 FGFR2 NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg)SNV Pathogenic 13283 rs121918501 10:123279564-123279564 10:121520050-121520050
19 FGFR2 NM_000141.5(FGFR2):c.868T>G (p.Trp290Gly)SNV Pathogenic 13284 rs121918501 10:123279564-123279564 10:121520050-121520050
20 FGFR2 NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)SNV Pathogenic 13289 rs121918504 10:123276974-123276974 10:121517460-121517460
21 FGFR2 NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)SNV Pathogenic 13290 rs121918505 10:123279633-123279633 10:121520119-121520119
22 FGFR2 NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)SNV Pathogenic 13295 rs121918507 10:123258105-123258105 10:121498591-121498591
23 FGFR2 NM_022970.3(FGFR2):c.1087+1366A>GSNV Pathogenic 13299 rs879253721 10:123276830-123276830 10:121517316-121517316
24 FGFR2 NM_000141.5(FGFR2):c.1009G>C (p.Ala337Pro)SNV Pathogenic 29853 rs387906676 10:123276908-123276908 10:121517394-121517394
25 FGFR2 NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)SNV Pathogenic 265431 rs776587763 10:123279599-123279599 10:121520085-121520085
26 FGFR2 NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)SNV Pathogenic 374820 rs121918487 10:123276892-123276892 10:121517378-121517378
27 FGFR2 NM_000141.5(FGFR2):c.1012G>C (p.Gly338Arg)SNV Pathogenic 374816 rs1057519043 10:123276905-123276905 10:121517391-121517391
28 FGFR2 NM_000141.5(FGFR2):c.923A>G (p.Tyr308Cys)SNV Pathogenic 374813 rs1057519040 10:123279509-123279509 10:121519995-121519995
29 FGFR2 NM_000141.5(FGFR2):c.869G>C (p.Trp290Ser)SNV Pathogenic 374812 rs1057519039 10:123279563-123279563 10:121520049-121520049
30 FGFR2 NM_000141.5(FGFR2):c.826T>G (p.Phe276Val)SNV Pathogenic/Likely pathogenic 374809 rs1057519036 10:123279606-123279606 10:121520092-121520092
31 FGFR2 NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly)SNV Pathogenic/Likely pathogenic 374815 rs1057519042 10:123276910-123276910 10:121517396-121517396
32 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)SNV Pathogenic/Likely pathogenic 374817 rs1057519044 10:123276904-123276904 10:121517390-121517390
33 FGFR3 NM_001163213.1(FGFR3):c.749C>G (p.Pro250Arg)SNV Pathogenic/Likely pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
34 FGFR2 NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)SNV Pathogenic/Likely pathogenic 13271 rs121918494 10:123276877-123276877 10:121517363-121517363
35 FGFR2 NM_000141.5(FGFR2):c.812G>T (p.Gly271Val)SNV Pathogenic/Likely pathogenic 573667 rs1564919048 10:123279620-123279620 10:121520106-121520106
36 FGFR2 NM_000141.5(FGFR2):c.1645A>C (p.Asn549His)SNV Likely pathogenic 374821 rs1057519045 10:123258036-123258036 10:121498522-121498522
37 FGFR2 NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys)SNV Likely pathogenic 374811 rs1057519038 10:123279590-123279590 10:121520076-121520076
38 FGFR2 NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys)SNV Conflicting interpretations of pathogenicity 298995 rs764959117 10:123239421-123239421 10:121479907-121479907
39 FGFR2 NM_000141.5(FGFR2):c.-135C>TSNV Conflicting interpretations of pathogenicity 299015 rs554557891 10:123353466-123353466 10:121593952-121593952
40 FGFR2 NM_000141.5(FGFR2):c.*921G>ASNV Conflicting interpretations of pathogenicity 298983 rs185617859 10:123238450-123238450 10:121478936-121478936
41 FGFR2 NM_022970.3(FGFR2):c.1565-11A>GSNV Conflicting interpretations of pathogenicity 299000 rs41293744 10:123258130-123258130 10:121498616-121498616
42 FGFR2 NM_022970.3(FGFR2):c.625-10A>GSNV Conflicting interpretations of pathogenicity 299007 rs201512833 10:123298239-123298239 10:121538725-121538725
43 FGFR2 NM_000141.5(FGFR2):c.*674G>TSNV Conflicting interpretations of pathogenicity 298985 rs566155088 10:123238697-123238697 10:121479183-121479183
44 FGFR2 NM_000141.5(FGFR2):c.1239G>A (p.Pro413=)SNV Conflicting interpretations of pathogenicity 299003 rs147674677 10:123274679-123274679 10:121515165-121515165
45 FGFR2 NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)SNV Conflicting interpretations of pathogenicity 577711 rs199757302 10:123276928-123276928 10:121517414-121517414
46 FGFR2 NM_000141.5(FGFR2):c.780C>T (p.Ala260=)SNV Conflicting interpretations of pathogenicity 772255 10:123279652-123279652 10:121520138-121520138
47 FGFR2 NM_000141.5(FGFR2):c.714G>A (p.Gly238=)SNV Conflicting interpretations of pathogenicity 728535 10:123298140-123298140 10:121538626-121538626
48 FGFR2 NM_000141.5(FGFR2):c.2190C>T (p.Asn730=)SNV Conflicting interpretations of pathogenicity 514067 rs55637244 10:123244914-123244914 10:121485400-121485400
49 FGFR2 NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu)SNV Conflicting interpretations of pathogenicity 877638 10:123274705-123274705 10:121515191-121515191
50 FGFR2 NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly)SNV Conflicting interpretations of pathogenicity 880347 10:123258119-123258119 10:121498605-121498605

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

73 (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 61)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.06 TWIST1 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1
2
Show member pathways
13.92 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
3
Show member pathways
13.91 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
4
Show member pathways
13.82 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
5
Show member pathways
13.81 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
6
Show member pathways
13.68 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
7
Show member pathways
13.67 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
8
Show member pathways
13.63 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
9
Show member pathways
13.55 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
10
Show member pathways
13.54 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
11
Show member pathways
13.5 TWIST1 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1
12
Show member pathways
13.47 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
13
Show member pathways
13.45 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
14
Show member pathways
13.42 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
15
Show member pathways
13.26 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
16
Show member pathways
13.23 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
17
Show member pathways
13.2 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
18
Show member pathways
13.14 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
19
Show member pathways
13.03 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
20 13.01 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
21
Show member pathways
12.94 TGFB1 FGFR2 FGFR1 FGF8 FGF3 FGF2
22
Show member pathways
12.91 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
23
Show member pathways
12.9 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
24 12.9 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
25
Show member pathways
12.86 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1
26
Show member pathways
12.82 FGFR2 FGFR1 FGF8 FGF3 FGF2 FGF10
27 12.76 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
28
Show member pathways
12.76 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
29
Show member pathways
12.73 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
30
Show member pathways
12.58 FGFR4 FGFR3 FGFR2 FGFR1 FGF2
31
Show member pathways
12.58 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
32
Show member pathways
12.51 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
33
Show member pathways
12.5 FGFR4 FGFR3 FGFR2 FGFR1
34
Show member pathways
12.45 FGFR4 FGFR3 FGFR2 FGFR1
35 12.41 TWIST1 TGFB1 FGFR1 FGF2 DCN
36
Show member pathways
12.4 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
37
Show member pathways
12.34 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
38 12.31 FGFR4 FGFR3 FGFR2 FGFR1 FGF2 FGF1
39 12.25 FGFR4 FGFR3 FGFR2 FGFR1 FGF2
40 12.21 TGFB1 FGF3 FGF2 FGF13 FGF10
41
Show member pathways
12.17 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
42 12.11 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
43
Show member pathways
12.11 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
44 12.07 TGFB1 MSX2 FGF8 FGF2 FGF10 DCN
45
Show member pathways
12.07 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
46 12 FGFR4 FGFR3 FGFR1 FGF8 FGF2 FGF10
47
Show member pathways
11.96 FGFR1 FGF8 FGF2 FGF1
48 11.92 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF2
49 11.88 TGFB1 FGFR3 FGFR1 FGF2 BMP6
50 11.87 TGFB1 DCN BMP6

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 nucleus GO:0005634 9.83 TWIST1 TGFB1 TCOF1 MSX2 FGFR3 FGFR2
2 receptor complex GO:0043235 9.46 FGFR4 FGFR3 FGFR2 FGFR1
3 extracellular region GO:0005576 9.44 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8

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

(show top 50) (show all 85)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.27 TWIST1 TGFB1 FGFR2 FGF2 FGF10 FGF1
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.22 TWIST1 TGFB1 MSX2 FGFR2 FGFR1 ERF
3 cell differentiation GO:0030154 10.21 TWIST1 FGF8 FGF3 FGF2 FGF10 FGF1
4 positive regulation of gene expression GO:0010628 10.14 TWIST1 TGFB1 FGFR4 FGF8 BMP6
5 multicellular organism development GO:0007275 10.13 TWIST1 MSX2 FGFR4 FGFR3 FGFR2 FGFR1
6 angiogenesis GO:0001525 10.05 FGFR2 FGFR1 FGF2 FGF10 FGF1
7 cell-cell signaling GO:0007267 10.04 FGFR3 FGFR2 FGF3 FGF13 FGF10 EFNB1
8 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.04 TGFB1 FGFR4 FGFR3 FGFR2 FGF8 FGF2
9 protein autophosphorylation GO:0046777 10.03 FGFR4 FGFR3 FGFR2 FGFR1
10 skeletal system development GO:0001501 10.02 TCOF1 FGFR3 FGFR1 BMP6
11 animal organ morphogenesis GO:0009887 10.01 FGFR2 FGF2 FGF10 DCN
12 peptidyl-tyrosine phosphorylation GO:0018108 10 FGFR4 FGFR3 FGFR2 FGFR1
13 positive regulation of cell proliferation GO:0008284 10 TGFB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
14 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.99 FGFR4 FGFR3 FGFR2 FGFR1
15 positive regulation of MAPK cascade GO:0043410 9.97 FGFR3 FGFR2 FGFR1 FGF2 FGF10
16 ossification GO:0001503 9.94 TWIST1 MSX2 BMP6
17 BMP signaling pathway GO:0030509 9.93 TGFB1 MSX2 BMP6
18 cellular response to growth factor stimulus GO:0071363 9.92 TWIST1 TGFB1 MSX2
19 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.92 TGFB1 FGF8 FGF10 BMP6
20 positive regulation of kinase activity GO:0033674 9.92 FGFR4 FGFR3 FGFR2 FGFR1
21 lung development GO:0030324 9.92 FGFR2 FGFR1 FGF8 FGF10 FGF1
22 bone development GO:0060348 9.91 TWIST1 FGFR2 FGF8
23 negative regulation of cell differentiation GO:0045596 9.91 TWIST1 TGFB1 FGF10
24 embryonic limb morphogenesis GO:0030326 9.91 TWIST1 MSX2 FGFR1
25 inner ear morphogenesis GO:0042472 9.91 FGFR2 FGFR1 FGF8 FGF10
26 positive regulation of MAP kinase activity GO:0043406 9.91 TGFB1 FGFR1 FGF2 FGF1
27 positive regulation of epithelial cell proliferation GO:0050679 9.91 TWIST1 TGFB1 FGFR2 FGF10 FGF1 BMP6
28 wound healing GO:0042060 9.91 TGFB1 MSX2 FGFR2 FGF2 FGF10 FGF1
29 positive chemotaxis GO:0050918 9.9 FGF8 FGF2 FGF10
30 positive regulation of blood vessel endothelial cell migration GO:0043536 9.9 TGFB1 FGFR1 FGF2
31 chondrocyte differentiation GO:0002062 9.9 TGFB1 FGFR3 FGFR1
32 epithelial to mesenchymal transition GO:0001837 9.89 TGFB1 FGFR2 FGFR1
33 ureteric bud development GO:0001657 9.89 TGFB1 FGFR2 FGFR1
34 positive regulation of cell division GO:0051781 9.88 TGFB1 FGFR2 FGF8 FGF3 FGF2 FGF1
35 positive regulation of cardiac muscle cell proliferation GO:0060045 9.87 FGFR2 FGFR1 FGF2
36 bone morphogenesis GO:0060349 9.87 MSX2 FGFR3 FGFR2
37 embryonic cranial skeleton morphogenesis GO:0048701 9.86 TWIST1 FGFR2 ALX3
38 digestive tract development GO:0048565 9.85 TGFB1 FGFR2 FGF10
39 embryonic forelimb morphogenesis GO:0035115 9.85 TWIST1 MSX2 ALX3
40 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.85 TGFB1 FGFR3 FGF2
41 embryonic pattern specification GO:0009880 9.84 FGFR2 FGF10 EFNB1
42 odontogenesis GO:0042476 9.84 TWIST1 MSX2 FGFR2 FGF8
43 outflow tract septum morphogenesis GO:0003148 9.83 MSX2 FGFR2 FGF8
44 embryonic hindlimb morphogenesis GO:0035116 9.81 TWIST1 MSX2 FGF8 ALX3
45 fibroblast growth factor receptor signaling pathway GO:0008543 9.81 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
46 branching involved in salivary gland morphogenesis GO:0060445 9.78 FGFR2 FGFR1 FGF8 FGF10
47 salivary gland morphogenesis GO:0007435 9.77 TGFB1 FGFR1 FGF10
48 positive regulation of phospholipase activity GO:0010518 9.77 FGFR3 FGFR2 FGFR1
49 positive regulation of transcription regulatory region DNA binding GO:2000679 9.76 TWIST1 TGFB1
50 hyaluronan catabolic process GO:0030214 9.76 TGFB1 FGF2

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.73 FGFR4 FGFR2 FGFR1 FGF2 FGF10 FGF1
2 protein tyrosine kinase activity GO:0004713 9.71 FGFR4 FGFR3 FGFR2 FGFR1
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.67 FGFR4 FGFR3 FGFR2 FGFR1
4 fibroblast growth factor binding GO:0017134 9.62 FGFR4 FGFR3 FGFR2 FGFR1
5 chemoattractant activity GO:0042056 9.61 FGF8 FGF2 FGF10
6 fibroblast growth factor receptor binding GO:0005104 9.55 FGF8 FGF3 FGF2 FGF10 FGF1
7 receptor-receptor interaction GO:0090722 9.46 FGFR1 FGF2
8 fibroblast growth factor-activated receptor activity GO:0005007 9.26 FGFR4 FGFR3 FGFR2 FGFR1
9 growth factor activity GO:0008083 9.23 TGFB1 FGF8 FGF3 FGF2 FGF13 FGF10

Sources for Crouzon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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