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CS
MCID: CRZ001
MIFTS: 65

Crouzon Syndrome (CS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Crouzon Syndrome

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MalaCards integrated aliases for Crouzon Syndrome:

Name: Crouzon Syndrome 57 11 19 42 58 75 73 28 12 53 5 14 38
Crouzon Craniofacial Dysostosis 57 19 42 58 73
Craniofacial Dysostosis 11 42 75 43 31
Cfd1 57 19 42 73
Craniofacial Dysostosis Type 1 19 42 71
Crouzon Disease 19 42 33
Crouzon's Disease 11 42
Craniofacial Dysostosis Syndrome 42
Craniofacial Dysostosis, Type I 57
Craniofacial Dysostosis Type I 73
Craniofacial Dysarthrosis 42
Vogt Cephalosyndactyly 33
Cs 73

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

1-9/1000000 (Europe, Europe) 1-9/100000 (Canada, Australia) 58

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
associated with increased paternal age


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Crouzon Syndrome

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MedlinePlus Genetics: 42 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 carpenter syndrome 1 and hypertelorism, 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 ERK Signaling and Disease. Affiliated tissues include Bone, eye and skin, and related phenotypes are frontal bossing and abnormal facial shape

GARD: 19 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 in the FGFR2 gene and is inherited in an autosomal dominant manner.

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 08-Dec-2022)

Disease Ontology: 11 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.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

Wikipedia: 75 Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome.... more...
Sources

Related Diseases for Crouzon Syndrome

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

(show top 50) (show all 218)
# Related Disease Score Top Affiliating Genes
1 carpenter syndrome 1 32.1 TWIST1 MSX2 FGFR3 FGFR2
2 hypertelorism 31.2 TWIST1 FGFR2 EFNB1
3 dysostosis 30.8 TWIST1 TCOF1 RUNX2 MSX2 FGFR3 FGFR2
4 achondroplasia 30.8 MSX2 FGFR3 FGFR2 FGFR1 FGF3
5 synostosis 30.7 TWIST1 TCF12 RUNX2 MSX2 FGFR3 FGFR2
6 antley-bixler syndrome 30.7 FGFR3 FGFR2 FGFR1
7 pfeiffer syndrome 30.6 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
8 plagiocephaly 30.6 FGFR3 FGFR2 FGFR1
9 choanal atresia, posterior 30.5 TCOF1 FGFR1 FGF8
10 scoliosis 30.4 RUNX2 FGFR3 FGFR2 FGFR1 FGF2 DCN
11 parietal foramina 30.4 TWIST1 RUNX2 MSX2 FGFR3 FGF8
12 non-syndromic sagittal craniosynostosis 30.4 TWIST1 ERF
13 craniosynostosis 1 30.3 TWIST1 ERF
14 chromosome 2q35 duplication syndrome 30.3 MSX2 FGFR3 FGFR2 FGFR1 FGF8 EFNB1
15 craniosynostosis 30.3 VPREB1 TWIST1 TCF12 RUNX2 MSX2 FRS2
16 hypochondroplasia 30.3 FGFR4 FGFR3 FGFR2 FGFR1 FGF3 FGF1
17 thanatophoric dysplasia, type i 30.3 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
18 hypertelorism, microtia, facial clefting syndrome 30.2 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
19 bone disease 30.2 RUNX2 FGFR3 FGFR2 FGFR1
20 achondroplasia, severe, with developmental delay and acanthosis nigricans 30.2 FRS2 FGFR4 FGFR3 FGFR2 FGFR1
21 beare-stevenson cutis gyrata syndrome 30.1 FRS2 FGFR3 FGFR2 FGFR1 FGF1 EFNB1
22 cleft lip 30.1 MSX2 FGFR2 FGFR1 FGF8 FGF10
23 jackson-weiss syndrome 30.1 VPREB1 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
24 tooth agenesis 30.0 TCOF1 RUNX2 MSX2 FGFR2 FGFR1 FGF8
25 apert syndrome 30.0 TWIST1 TCF12 RUNX2 MSX2 FGFR4 FGFR3
26 saethre-chotzen syndrome 30.0 TWIST1 TCF12 RUNX2 MSX2 FGFR3 FGFR2
27 osteochondrodysplasia 29.8 RUNX2 MSX2 FGFR4 FGFR3 FGFR2 FGFR1
28 muenke syndrome 29.8 VPREB1 TWIST1 TCF12 MSX2 FGFR4 FGFR3
29 cleft palate, isolated 29.5 TWIST1 TCOF1 RUNX2 MSX2 FGFR3 FGFR2
30 crouzon syndrome with acanthosis nigricans 11.9
31 fontaine progeroid syndrome 11.7
32 craniofacial dysostosis with diaphyseal hyperplasia 11.6
33 craniofacial dyssynostosis with short stature 11.1
34 craniofacial dysostosis arthrogryposis progeroid appearence 11.1
35 kleeblattschaedel 11.1
36 potocki-shaffer syndrome 11.1
37 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
38 acanthosis nigricans 10.6
39 syndromic craniosynostosis 10.5
40 strabismus 10.4
41 intracranial hypertension 10.4
42 microtia 10.4 TCOF1 FGF3
43 hydrocephalus 10.4
44 hemifacial hyperplasia 10.4 FGFR3 FGFR2 EFNB1
45 testicular spermatocytic seminoma 10.4 FGFR3 FGFR2
46 apnea, obstructive sleep 10.4
47 hartsfield syndrome 10.4 FGFR1 FGF8
48 parietal foramina with cleidocranial dysplasia 10.4 RUNX2 MSX2
49 nevus, epidermal 10.4 FGFR3 FGFR2 FGFR1
50 acanthoma 10.4 FGFR3 FGFR2 FGF10

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



Diseases related to Crouzon Syndrome
Sources

Symptoms & Phenotypes for Crouzon Syndrome

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Human phenotypes related to Crouzon Syndrome:

58 30 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002007
2 abnormal facial shape 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001999
3 multiple suture craniosynostosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011324
4 high forehead 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000348
5 ptosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000508
6 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000316
7 increased intracranial pressure 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002516
8 brachycephaly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000248
9 strabismus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000486
10 conductive hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000405
11 proptosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000520
12 turricephaly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000262
13 conjunctivitis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000509
14 midface retrusion 58 30 Frequent (33%) Frequent (79-30%)
 HP:0011800
15 hypoplasia of the maxilla 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000327
16 cerebellar hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001321
17 chiari malformation 30 Frequent (33%) HP:0002308
18 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000238
19 respiratory insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002093
20 narrow palate 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000189
21 optic atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000648
22 melanocytic nevus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000995
23 iris coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000612
24 choanal atresia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000453
25 amblyopia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000646
26 hypopigmented skin patches 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001053
27 convex nasal ridge 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000444
28 headache 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002315
29 acanthosis nigricans 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000956
30 abnormal sacrum morphology 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005107
31 narrow internal auditory canal 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011386
32 intellectual disability 30 Occasional (7.5%) HP:0001249
33 seizure 30 HP:0001250
34 sleep apnea 30 HP:0010535
35 hearing impairment 58 Occasional (29-5%)
36 mandibular prognathia 30 HP:0000303
37 visual impairment 30 HP:0000505
38 abnormal skull morphology 58 Very frequent (99-80%)
39 dental crowding 30 HP:0000678
40 arnold-chiari malformation 58 Frequent (79-30%)
41 keratitis 30 HP:0000491
42 atresia of the external auditory canal 30 HP:0000413
43 abnormality of the cervical spine 30 HP:0003319
44 coronal craniosynostosis 30 HP:0004440
45 craniofacial dysostosis 30 HP:0004439
46 shallow orbits 30 HP:0000586
47 dysgerminoma 30 HP:0100621
48 sagittal craniosynostosis 30 HP:0004442
49 lambdoidal craniosynostosis 30 HP:0004443
50 abnormal nasopharynx morphology 30 HP:0001739

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 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

Respiratory Nasopharynx:
sleep apnea

Head And Neck Head:
brachycephaly
craniosynostosis

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

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 08-Dec-2022)

UMLS symptoms related to Crouzon Syndrome:


seizures; frequent headaches

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 DCN EFNB1 ERF FGF1 FGF10 FGF13
2 no effect GR00402-S-2 10.19 DCN ERF FGF1 FGF10 FGF13 FGF2

MGI Mouse Phenotypes related to Crouzon Syndrome:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.51 EFNB1 ERF FGF1 FGF10 FGF13 FGF2
2 growth/size/body region MP:0005378 10.45 DCN EFNB1 ERF FGF10 FGF3 FGF8
3 limbs/digits/tail MP:0005371 10.35 EFNB1 FGF10 FGF3 FGF8 FGFR1 FGFR2
4 cellular MP:0005384 10.35 DCN EFNB1 ERF FGF10 FGF13 FGF2
5 craniofacial MP:0005382 10.31 DCN EFNB1 ERF FGF10 FGF8 FGFR1
6 hearing/vestibular/ear MP:0005377 10.3 EFNB1 FGF10 FGF2 FGF3 FGF8 FGFR1
7 behavior/neurological MP:0005386 10.3 DCN ERF FGF10 FGF13 FGF2 FGF3
8 normal MP:0002873 10.29 DCN ERF FGF1 FGF10 FGF3 FGF8
9 embryo MP:0005380 10.26 EFNB1 ERF FGF10 FGF3 FGF8 FGFR1
10 digestive/alimentary MP:0005381 10.25 DCN EFNB1 FGF10 FGF8 FGFR1 FGFR2
11 immune system MP:0005387 10.25 DCN EFNB1 FGF10 FGF3 FGF8 FGFR1
12 endocrine/exocrine gland MP:0005379 10.24 DCN EFNB1 FGF10 FGF8 FGFR1 FGFR2
13 muscle MP:0005369 10.23 DCN FGF10 FGF2 FGF8 FGFR1 FGFR2
14 reproductive system MP:0005389 10.18 DCN EFNB1 ERF FGF10 FGF2 FGF3
15 skeleton MP:0005390 10.17 DCN EFNB1 ERF FGF10 FGF2 FGF3
16 respiratory system MP:0005388 10.06 DCN EFNB1 FGF10 FGF8 FGFR2 FGFR3
17 vision/eye MP:0005391 10.03 DCN EFNB1 FGF10 FGF2 FGF8 FGFR1
18 hematopoietic system MP:0005397 10.03 DCN EFNB1 ERF FGF1 FGF10 FGF2
19 mortality/aging MP:0010768 9.91 DCN EFNB1 ERF FGF10 FGF13 FGF2
20 integument MP:0010771 9.28 DCN EFNB1 FGF10 FGFR1 FGFR2 FGFR3
Sources

Drugs & Therapeutics for Crouzon Syndrome

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Findings, Diagnostic Accuracy, Treatment, and Outcomes in Freeman-Burian Syndrome and Similar-appearing Arthrogryposis Syndromes: a Cross-sectional, Non-randomized Study Recruiting NCT05419245
2 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Terminated NCT01144741

Search NIH Clinical Center for Crouzon Syndrome

Cochrane evidence based reviews: craniofacial dysostosis

Sources

Genetic Tests for Crouzon Syndrome

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Genetic tests related to Crouzon Syndrome:

# Genetic test Affiliating Genes
1 Crouzon Syndrome 28 FGFR2
Sources

Anatomical Context for Crouzon Syndrome

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Organs/tissues related to Crouzon Syndrome:

MalaCards : Eye, Bone, Skin, Trachea, Brain, Spinal Cord, 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
Sources

Publications for Crouzon Syndrome

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Articles related to Crouzon Syndrome:

(show top 50) (show all 1039)
# Title Authors PMID Year
1
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 53 62 57 5
7874170 1994
2
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 53 62 57 5
7987400 1994
3
FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 57 5
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. 53 62 5
10851026 2000
5
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 53 62 57
10712195 2000
6
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 53 62 57
7493034 1995
7
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 53 62 5
7581378 1995
8
Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome. 53 62 5
7607643 1995
9
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 53 62 5
8528214 1995
10
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. 53 62 5
7773284 1995
11
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 53 62 5
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. 62 57
20635358 2010
13
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. 62 5
9152842 1997
14
Mutation detection in FGFR2 craniosynostosis syndromes. 62 5
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. 62 5
8644708 1996
16
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis. 62 5
8522336 1995
17
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 62 5
7655462 1995
18
A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. 62 57
7920632 1994
19
Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. 62 57
1633640 1992
20
Germinal mosaicism in Crouzon syndrome. 62 57
2323783 1990
21
Germinal mosaicism in Crouzon syndrome. 62 57
3359675 1988
22
Completely cartilaginous trachea in a child with Crouzon syndrome. 62 57
6546324 1984
23
Older paternal age and fresh gene mutation: data on additional disorders. 62 57
1110452 1975
24
An autosomal recessive form of craniofacial dysostosis (the Crouzon syndrome). 62 57
4697859 1973
25
Craniofacial dysostosis of Crouzon; a case report and pedigree with emphasis on heredity. 62 57
13613871 1959
26
Craniofacial dysostosis: Crouzon's disease. 62 57
13613870 1959
27
Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis. 57
17132737 2006
28
Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. 5
16158432 2005
29
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 5
16061565 2005
30
Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G). 5
15286168 2004
31
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 5
10633130 2000
32
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 5
10394936 1999
33
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 5
9677057 1998
34
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. 5
9385368 1997
35
Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development. 5
9169049 1997
36
FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 5
8957519 1996
37
Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. 57
7674004 1995
38
Craniofacial syndromes: no such thing as a single gene disease. 5
7719329 1995
39
Insidious onset of familial craniosynostosis. 57
8399270 1993
40
Related fibroblast growth factor receptor genes exist in the human genome. 5
2172978 1990
41
Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors. 5
1697263 1990
42
Delayed and progressive multiple suture craniosynostosis. 57
2320213 1990
43
Variable expressivity of Crouzon's syndrome within a family. 57
265609 1977
44
Cranio-facial Dysostosis in a Dorset Family. 57
21032436 1966
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. 53 62
19622626 2009
50
[FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient]. 53 62
18393251 2008
Sources

Variations for Crouzon Syndrome

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ClinVar genetic disease variations for Crouzon Syndrome:

5 (show top 50) (show all 139)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TCOF1 NM_001371623.1(TCOF1):c.3973dup (p.Glu1325fs) DUP Pathogenic
 419066 rs1554080460 GRCh37: 5:149776031-149776032
GRCh38: 5:150396468-150396469
2 FGFR2 NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) SNV Pathogenic
 13276 rs121918497 GRCh37: 10:123279566-123279566
GRCh38: 10:121520052-121520052
3 FGFR2 NM_000141.5(FGFR2):c.874A>G (p.Lys292Glu) SNV Pathogenic
 13282 rs121918500 GRCh37: 10:123279558-123279558
GRCh38: 10:121520044-121520044
4 FGFR2 NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg) SNV Pathogenic
 13283 rs121918501 GRCh37: 10:123279564-123279564
GRCh38: 10:121520050-121520050
5 FGFR2 NM_000141.5(FGFR2):c.868T>G (p.Trp290Gly) SNV Pathogenic
 13284 rs121918501 GRCh37: 10:123279564-123279564
GRCh38: 10:121520050-121520050
6 FGFR2 NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) SNV Pathogenic
 13295 rs121918507 GRCh37: 10:123258105-123258105
GRCh38: 10:121498591-121498591
7 FGFR2 NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) SNV Pathogenic
 13290 rs121918505 GRCh37: 10:123279633-123279633
GRCh38: 10:121520119-121520119
8 FGFR2 NM_000141.5(FGFR2):c.826T>G (p.Phe276Val) SNV Pathogenic
 374809 rs1057519036 GRCh37: 10:123279606-123279606
GRCh38: 10:121520092-121520092
9 FGFR2 NM_000141.5(FGFR2):c.923A>G (p.Tyr308Cys) SNV Pathogenic
 374813 rs1057519040 GRCh37: 10:123279509-123279509
GRCh38: 10:121519995-121519995
10 FGFR2 NM_000141.5(FGFR2):c.869G>C (p.Trp290Ser) SNV Pathogenic
 374812 rs1057519039 GRCh37: 10:123279563-123279563
GRCh38: 10:121520049-121520049
11 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) SNV Pathogenic
 478046 rs1554927408 GRCh37: 10:123274768-123274768
GRCh38: 10:121515254-121515254
12 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic
 13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
13 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Pathogenic
 13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
14 FGFR2 NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) SNV Pathogenic
 449024 rs1434545235 GRCh37: 10:123325014-123325014
GRCh38: 10:121565500-121565500
15 FGFR2 NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) SNV Pathogenic
 265431 rs776587763 GRCh37: 10:123279599-123279599
GRCh38: 10:121520085-121520085
16 FGFR2 NM_000141.5(FGFR2):c.812G>T (p.Gly271Val) SNV Pathogenic
 573667 rs1564919048 GRCh37: 10:123279620-123279620
GRCh38: 10:121520106-121520106
17 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic
Pathogenic
 13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
18 FGFR2 NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His) SNV Pathogenic
 13264 rs121918489 GRCh37: 10:123276899-123276899
GRCh38: 10:121517385-121517385
19 FGFR2 NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys) SNV Pathogenic
 13265 rs121918490 GRCh37: 10:123276856-123276856
GRCh38: 10:121517342-121517342
20 FGFR2 NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) SNV Pathogenic
 13266 rs121918488 GRCh37: 10:123276893-123276893
GRCh38: 10:121517379-121517379
21 FGFR2 NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) SNV Pathogenic
 13267 rs121918488 GRCh37: 10:123276893-123276893
GRCh38: 10:121517379-121517379
22 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344_Gly345=) SNV Pathogenic
Pathogenic
 13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
23 FGFR2 NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) SNV Pathogenic
 13269 rs121918492 GRCh37: 10:123276886-123276886
GRCh38: 10:121517372-121517372
24 FGFR2 NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys) SNV Pathogenic
 13270 rs121918493 GRCh37: 10:123276934-123276934
GRCh38: 10:121517420-121517420
25 FGFR2 NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) SNV Pathogenic
 13271 rs121918494 GRCh37: 10:123276877-123276877
GRCh38: 10:121517363-121517363
26 FGFR2 NM_000141.5(FGFR2):c.1026C>G (p.Cys342Trp) SNV Pathogenic
 13275 rs121918496 GRCh37: 10:123276891-123276891
GRCh38: 10:121517377-121517377
27 FGFR2 NM_000141.5(FGFR2):c.1084+3A>G SNV Pathogenic
Likely Pathogenic
 13299 rs879253721 GRCh37: 10:123276830-123276830
GRCh38: 10:121517316-121517316
28 FGFR2 NM_000141.5(FGFR2):c.1009G>C (p.Ala337Pro) SNV Pathogenic
 29853 rs387906676 GRCh37: 10:123276908-123276908
GRCh38: 10:121517394-121517394
29 FGFR2 NM_000141.5(FGFR2):c.1012G>C (p.Gly338Arg) SNV Pathogenic
 374816 rs1057519043 GRCh37: 10:123276905-123276905
GRCh38: 10:121517391-121517391
30 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) SNV Pathogenic
Likely Pathogenic
 374817 rs1057519044 GRCh37: 10:123276904-123276904
GRCh38: 10:121517390-121517390
31 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic
 16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
32 FGFR2 NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) SNV Pathogenic
 374820 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
33 FGFR2 NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) SNV Pathogenic
 13289 rs121918504 GRCh37: 10:123276974-123276974
GRCh38: 10:121517460-121517460
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.1007A>G (p.Asp336Gly) SNV Pathogenic/Likely Pathogenic
 374815 rs1057519042 GRCh37: 10:123276910-123276910
GRCh38: 10:121517396-121517396
36 FGFR2 NM_000141.5(FGFR2):c.824_829dup (p.Phe276_Val277insGluPhe) DUP Likely Pathogenic
 981191 rs1850299732 GRCh37: 10:123279602-123279603
GRCh38: 10:121520088-121520089
37 FGFR2 NM_000141.5(FGFR2):c.811_812inv (p.Gly271Pro) INVERS Likely Pathogenic
 1048584 GRCh37: 10:123279620-123279621
GRCh38: 10:121520106-121520107
38 FGFR2 NM_000141.5(FGFR2):c.1645A>C (p.Asn549His) SNV Likely Pathogenic
 374821 rs1057519045 GRCh37: 10:123258036-123258036
GRCh38: 10:121498522-121498522
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.1179A>T (p.Val393_Thr394=) SNV Uncertain Significance
 299004 rs886046763 GRCh37: 10:123274739-123274739
GRCh38: 10:121515225-121515225
41 FGFR2 NM_000141.5(FGFR2):c.*1489C>T SNV Uncertain Significance
 298975 rs886046757 GRCh37: 10:123237882-123237882
GRCh38: 10:121478368-121478368
42 FGFR2 NM_000141.5(FGFR2):c.1167C>G (p.Ala389_Cys390=) SNV Uncertain Significance
 877639 rs757648006 GRCh37: 10:123274751-123274751
GRCh38: 10:121515237-121515237
43 FGFR2 NM_000141.5(FGFR2):c.1093A>C (p.Arg365_Glu366=) SNV Uncertain Significance
 878653 rs1849564914 GRCh37: 10:123274825-123274825
GRCh38: 10:121515311-121515311
44 FGFR2 NM_000141.5(FGFR2):c.780C>T (p.Ala260_Gly261=) SNV Uncertain Significance
 772255 rs778288494 GRCh37: 10:123279652-123279652
GRCh38: 10:121520138-121520138
45 FGFR2 NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) SNV Uncertain Significance
 878704 rs747171741 GRCh37: 10:123279660-123279660
GRCh38: 10:121520146-121520146
46 FGFR2 NM_000141.5(FGFR2):c.714G>A (p.Gly238_Ser239=) SNV Uncertain Significance
 728535 rs1276387170 GRCh37: 10:123298140-123298140
GRCh38: 10:121538626-121538626
47 FGFR2 NM_000141.5(FGFR2):c.*1283C>G SNV Uncertain Significance
 878944 rs1844298421 GRCh37: 10:123238088-123238088
GRCh38: 10:121478574-121478574
48 FGFR2 NM_000141.5(FGFR2):c.*730G>C SNV Uncertain Significance
 878994 rs549293047 GRCh37: 10:123238641-123238641
GRCh38: 10:121479127-121479127
49 FGFR2 NM_000141.5(FGFR2):c.*463A>G SNV Uncertain Significance
 877435 rs373313930 GRCh37: 10:123238908-123238908
GRCh38: 10:121479394-121479394
50 FGFR2 NM_000141.5(FGFR2):c.-17G>C SNV Uncertain Significance
 877977 rs766629665 GRCh37: 10:123353348-123353348
GRCh38: 10:121593834-121593834

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 rs1434545235
2 FGFR2 p.Ser267Pro VAR_004118 rs121918505
3 FGFR2 p.Phe276Val VAR_004120 rs1057519036
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 rs1554930684
9 FGFR2 p.Tyr328Cys VAR_004130 rs121918493
10 FGFR2 p.Asn331Ile VAR_004131
11 FGFR2 p.Gly338Glu VAR_004133 rs1057519044
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 rs1554927408
25 FGFR2 p.Gly338Arg VAR_015011 rs1057519043
26 FGFR2 p.Pro263Leu VAR_017261 rs779326224
27 FGFR2 p.Cys278Tyr VAR_017263 rs776587763
28 FGFR2 p.Tyr281Cys VAR_017264 rs1057519038
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 rs1057519045
36 FGFR2 p.Arg678Gly VAR_017281

Sources

Expression for Crouzon Syndrome

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Search GEO for disease gene expression data for Crouzon Syndrome.
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Pathways for Crouzon Syndrome

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

(show top 50) (show all 63)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.88 FGF1 FGF10 FGF13 FGF2 FGF8 FGFR1
2
Disease 66
Show member pathways
 13.87 DCN FGF1 FGF10 FGF2 FGF3 FGF8
3
Apoptotic Pathways in Synovial Fibroblasts 64
Show member pathways
 13.86 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
4
Signal Transduction 66
13.84 TCF12 FRS2 FGFR4 FGFR3 FGFR2 FGFR1
5
GPCR Pathway 64
Show member pathways
 13.76 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
6
TGF-Beta Pathway 64
Show member pathways
 13.64 TCF12 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
7
Activation of cAMP-Dependent PKA 64
Show member pathways
 13.61 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
8
Akt Signaling 64
Show member pathways
 13.49 FGF1 FGF10 FGF13 FGF2 FGF8 FGFR1
9
RAF/MAP kinase cascade 66
Show member pathways
 13.48 FGF1 FGF10 FGF2 FGF3 FGF8 FGFR1
10
CREB Pathway 64
Show member pathways
 13.42 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
11
PAK Pathway 64
Show member pathways
 13.42 TCF12 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
12
Nanog in Mammalian ESC Pluripotency 64
Show member pathways
 13.37 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
13
PIP3 activates AKT signaling 66
Show member pathways
 13.22 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
14
Phospholipase-C Pathway 64
Show member pathways
 13.19 FGF1 FGF10 FGF13 FGF2 FGF8 FGFR1
15
p70S6K Signaling 64
Show member pathways
 13.18 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
16
PI3K-Akt signaling pathway 74
Show member pathways
 13.11 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
17
Downstream signaling of activated FGFR2 66
Show member pathways
 13.05 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
18
Signaling by Receptor Tyrosine Kinases 66
12.95 TCF12 FRS2 FGFR4 FGFR3 FGFR2 FGFR1
19
Insulin receptor signalling cascade 66
Show member pathways
 12.87 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
20
NF-KappaB Family Pathway 64
Show member pathways
 12.86 FGF1 FGF10 FGF13 FGF2 FGF8 FGFR1
21
Malignant pleural mesothelioma 74
12.83 FGF1 FGF10 FGF13 FGF2 FGF3 FGF8
22
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling 66
Show member pathways
 12.81 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
23
Overview of interferons-mediated signaling pathway 74
Show member pathways
 12.8 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
24
Endometrial cancer 74
Show member pathways
 12.74 FGFR3 FGFR2 FGFR1 FGF2 FGF1
25
Negative regulation of FGFR1 signaling 66
Show member pathways
 12.7 FGF1 FGF10 FGF2 FGF3 FGF8 FGFR1
26
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.55 FGF1 FGF10 FGF13 FGF2 FGF8 FGFR1
27
Breast cancer pathway 74
Show member pathways
 12.53 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
28
RhoGDI Pathway 64
Show member pathways
 12.45 FGF1 FGF10 FGF13 FGF2 FGF3 FGF8
29
NF-kappaB Pathway 70
Show member pathways
 12.44 FGFR4 FGFR3 FGFR2 FGFR1
30
MAPK signaling pathway 74
12.41 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF3
31
Development FGFR signaling pathway 22
Show member pathways
 12.41 FGF1 FGF10 FGF13 FGF2 FGF3 FGF8
32
VEGF Signaling Pathway 60 67
Show member pathways
 12.32 FGFR4 FGFR3 FGFR2 FGFR1 FGF2
33
Tyrosine Kinases / Adaptors 3
12.31 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF2
34
Ras signaling 74
12.28 FGFR4 FGFR3 FGFR2 FGFR1
35
MAPK Signaling: Mitogens 65
Show member pathways
 12.21 FGFR4 FGFR3 FGFR2 FGFR1
36
mTOR Signaling 65
12.16 FGFR4 FGFR3 FGFR2 FGFR1
37
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 65
12.14 FGF3 FGF2 FGF13 FGF10
38
22q11.2 copy number variation syndrome 74
12.13 FGFR2 FGFR1 FGF8 FGF10
39
Neural crest differentiation 74
12.12 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
40
Endochondral ossification 74
Show member pathways
 12.11 RUNX2 FGFR3 FGFR1 FGF2
41
Mesenchymal Stem Cells and Lineage-specific Markers 65
12.08 RUNX2 MSX2 FGF8 FGF2 FGF10 DCN
42
Angiogenesis (CST) 3
12.05 FGFR4 FGFR3 FGFR2 FGFR1 FGF2 FGF1
43
Regulation of actin cytoskeleton 74
12.03 FGF1 FGF10 FGF13 FGF2 FGF3 FGF8
44
FGFR1 mutant receptor activation 66
Show member pathways
 12.01 FRS2 FGFR1 FGF8 FGF2 FGF1
45
Neural Stem Cells and Lineage-specific Markers 65
11.99 FGFR4 FGFR3 FGFR1 FGF8 FGF2 FGF10
46
Hippo-Merlin signaling dysregulation 74
Show member pathways
 11.96 FGFR4 FGFR3 FGFR2 FGFR1
47
Burn wound healing 74
11.93 FGFR4 FGFR3 FGFR2 FGFR1 DCN
48
Signaling by FGFR2 66
Show member pathways
 11.93 FGF1 FGF10 FGF2 FGF3 FGF8 FGFR1
49
G-protein signaling_RhoA regulation pathway 22
11.91 FGF1 FGF10 FGF13 FGF2 FGF8 FGFR1
Sources

GO Terms for Crouzon Syndrome

About this section

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 VPREB1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8

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

(show top 50) (show all 59)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.41 TWIST1 TCF12 RUNX2 FGF8 FGF3 FGF2
2 positive regulation of gene expression GO:0010628 10.39 TWIST1 TCF12 RUNX2 FGFR4 FGF8 FGF3
3 positive regulation of protein phosphorylation GO:0001934 10.38 FGF1 FGF10 FGF2 FGF3 FGF8
4 cell-cell signaling GO:0007267 10.34 EFNB1 FGF10 FGF13 FGF3 FGFR2 FGFR3
5 peptidyl-tyrosine phosphorylation GO:0018108 10.32 FGFR1 FGFR2 FGFR3 FGFR4
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10.32 FRS2 FGFR4 FGFR3 FGFR2 FGFR1
7 MAPK cascade GO:0000165 10.3 FGFR3 FGFR1 FGF8 FGF13
8 osteoblast differentiation GO:0001649 10.3 TWIST1 RUNX2 MSX2 FGF2
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.3 FGF1 FGF10 FGF2 FGF8 FGFR2 FGFR3
10 regulation of cell migration GO:0030334 10.27 FGF1 FGF10 FGF2 FGF3 FGF8
11 positive regulation of MAPK cascade GO:0043410 10.27 FGF10 FGF2 FGFR1 FGFR2 FGFR3 FRS2
12 skeletal system development GO:0001501 10.26 TCOF1 RUNX2 FGFR3 FGFR1
13 positive regulation of kinase activity GO:0033674 10.23 FGFR4 FGFR3 FGFR2 FGFR1
14 positive regulation of cell population proliferation GO:0008284 10.23 RUNX2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
15 stem cell proliferation GO:0072089 10.21 RUNX2 FGF8 FGF2 FGF10
16 animal organ morphogenesis GO:0009887 10.21 FGFR2 FGF8 FGF3 FGF2 FGF10 FGF1
17 wound healing GO:0042060 10.19 FGF1 FGF10 FGF2 FGFR2 MSX2
18 positive regulation of stem cell proliferation GO:2000648 10.18 RUNX2 FGF8 FGF2 FGF10
19 epithelial cell proliferation GO:0050673 10.17 FGF1 FGF10 FGF2 RUNX2
20 embryonic forelimb morphogenesis GO:0035115 10.16 TWIST1 RUNX2 MSX2
21 embryonic cranial skeleton morphogenesis GO:0048701 10.16 TWIST1 RUNX2 FGFR2
22 embryonic pattern specification GO:0009880 10.15 EFNB1 FGF10 FGFR2
23 embryonic hindlimb morphogenesis GO:0035116 10.14 FGF8 MSX2 TWIST1
24 outflow tract septum morphogenesis GO:0003148 10.14 MSX2 FGFR2 FGF8
25 lung development GO:0030324 10.13 FGFR2 FGF8 FGF2 FGF10 FGF1
26 bone development GO:0060348 10.12 TWIST1 FGFR2 FGF8
27 positive regulation of cell division GO:0051781 10.1 FGF1 FGF2 FGF3 FGF8 FGFR2
28 positive regulation of epithelial cell proliferation GO:0050679 10.1 FGF1 FGF10 FGF2 FGFR2 RUNX2 TWIST1
29 skeletal system morphogenesis GO:0048705 10.09 FGFR1 FGFR2 RUNX2
30 odontogenesis GO:0042476 10.09 TWIST1 MSX2 FGFR2 FGF8
31 bone morphogenesis GO:0060349 10.08 MSX2 FGFR3 FGFR2
32 stem cell differentiation GO:0048863 10.08 TWIST1 RUNX2 MSX2 FGF2
33 endochondral bone growth GO:0003416 10.06 MSX2 FGFR3 FGFR2
34 organ growth GO:0035265 10.04 FGF10 FGF8 FGFR2
35 positive regulation of phospholipase activity GO:0010518 10.03 FGFR3 FGFR2 FGFR1
36 inner ear morphogenesis GO:0042472 10.02 FGFR2 FGF8 FGF10
37 bud elongation involved in lung branching GO:0060449 10.02 FGFR2 FGF10
38 regulation of odontogenesis of dentin-containing tooth GO:0042487 10.02 RUNX2 FGF8
39 lacrimal gland development GO:0032808 10.02 FGFR2 FGF10
40 branching morphogenesis of a nerve GO:0048755 10.01 FGF13 FGFR2
41 thyroid-stimulating hormone-secreting cell differentiation GO:0060129 10.01 FGF2 FGF8
42 cranial suture morphogenesis GO:0060363 10.01 MSX2 TWIST1
43 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 10 FGFR2 FRS2
44 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 10 FGFR2 FGF10
45 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.99 FGFR1 FGF2
46 branching involved in salivary gland morphogenesis GO:0060445 9.99 FGFR2 FGF8 FGF10
47 otic vesicle formation GO:0030916 9.99 FGFR2 FGF8 FGF10
48 regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000544 9.98 FGF2 FGF1
49 corticotropin hormone secreting cell differentiation GO:0060128 9.97 FGF8 FGF2
50 negative regulation of cardiac muscle tissue development GO:0055026 9.96 FGF3 FGF8

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 10.1 FGF1 FGF10 FGF2 FGFR1 FGFR2 FGFR4
2 growth factor activity GO:0008083 10.03 FGF8 FGF3 FGF2 FGF13 FGF10 FGF1
3 protein tyrosine kinase activity GO:0004713 10 FGFR4 FGFR3 FGFR2 FGFR1
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.97 FGFR4 FGFR3 FGFR2 FGFR1
5 bHLH transcription factor binding GO:0043425 9.88 TWIST1 TCF12 RUNX2
6 type 2 fibroblast growth factor receptor binding GO:0005111 9.78 FGF8 FGF10
7 fibroblast growth factor binding GO:0017134 9.76 FGFR1 FGFR2 FGFR3 FGFR4
8 receptor-receptor interaction GO:0090722 9.73 FGFR1 FGF2
9 fibroblast growth factor receptor activity GO:0005007 9.56 FGFR4 FGFR3 FGFR2 FGFR1
10 fibroblast growth factor receptor binding GO:0005104 9.4 FRS2 FGF8 FGF3 FGF2 FGF10 FGF1
Sources

Sources for Crouzon Syndrome

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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