CS
MCID: CRZ001
MIFTS: 70

Crouzon Syndrome (CS)

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

Aliases & Classifications for Crouzon Syndrome

MalaCards integrated aliases for Crouzon Syndrome:

Name: Crouzon Syndrome 58 39 12 77 54 26 76 38 30 13 56 6 15 41
Crouzon Craniofacial Dysostosis 58 54 26 60 76
Craniofacial Dysostosis 12 77 26 45
Cfd1 58 54 76
Craniofacial Dysostosis Type 1 54 74
Crouzon's Disease 12 26
Crouzon Disease 54 60
Craniofacial Dysostosis, Type I; Cfd1 58
Craniofacial Dysostosis, Type 1; Cfd1 26
Craniofacial Dysostosis Syndrome 26
Craniofacial Dysostosis, Type I 58
Craniofacial Dysostosis Type I 76
Craniofacial Dysarthrosis 26
Crouzons Disease 26
Cs 76

Characteristics:

Orphanet epidemiological data:

60
crouzon disease
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
associated with increased paternal age


HPO:

33
crouzon syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Crouzon Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Crouzon Syndrome, also known as crouzon craniofacial dysostosis, is related to apert syndrome and achondroplasia, 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 GPCR Pathway. The drugs Cisplatin and Gemcitabine have been mentioned in the context of this disorder. Affiliated tissues include Bone, bone and eye, 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.

Genetics Home Reference : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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 228)
# Related Disease Score Top Affiliating Genes
1 apert syndrome 30.4 FGFR3 FGFR2 FGFR1 FGF2
2 achondroplasia 30.3 FGFR3 FGFR2 FGFR1
3 pfeiffer syndrome 30.3 FGFR3 FGFR2 FGFR1
4 plagiocephaly 30.2 FGFR3 FGFR2 FGFR1
5 exophthalmos 30.2 FGFR2 FGFR3 TGFB1
6 jackson-weiss syndrome 30.1 FGFR2 FGFR1 FGFR3
7 synostosis 30.1 MSX2 FGFR3 FGFR2 FGFR1
8 saethre-chotzen syndrome 29.9 FGFR1 FGFR2 FGFR3 MSX2
9 thanatophoric dysplasia, type i 29.7 FGF13 FGFR1 FGFR2 FGFR3
10 craniosynostosis 29.3 MSX2 IL11RA FGFR3 FGFR2 FGFR1 FGF2
11 crouzon syndrome with acanthosis nigricans 12.7
12 craniofacial dysostosis with diaphyseal hyperplasia 12.5
13 craniofacial dysostosis arthrogryposis progeroid appearence 12.2
14 fontaine progeroid syndrome 12.2
15 cockayne syndrome 11.9
16 xeroderma pigmentosum, complementation group d 11.6
17 xeroderma pigmentosum, complementation group f 11.6
18 xeroderma pigmentosum, complementation group g 11.6
19 xeroderma pigmentosum, complementation group b 11.6
20 primary pigmented nodular adrenocortical disease 11.5
21 cowden syndrome 11.5
22 craniofacial dyssynostosis 11.5
23 acth-independent macronodular adrenal hyperplasia 11.5
24 kleeblattschaedel 11.4
25 cowden syndrome 1 11.4
26 cardiogenic shock 11.3
27 cockayne syndrome a 11.3
28 diabetes mellitus, noninsulin-dependent 11.3
29 mucopolysaccharidosis, type vii 11.3
30 mitochondrial metabolism disease 11.3
31 cerebrooculofacioskeletal syndrome 1 11.2
32 body mass index quantitative trait locus 11 11.2
33 anemia, sideroblastic, and spinocerebellar ataxia 11.2
34 carnitine palmitoyltransferase ii deficiency, infantile 11.2
35 cerebral creatine deficiency syndrome 2 11.2
36 endemic typhus 11.2
37 cerebral creatine deficiency syndrome 11.2
38 bartonellosis 11.2
39 critical illness polyneuropathy 11.2
40 leber hereditary optic neuropathy 11.2
41 carpenter syndrome 1 11.2
42 potocki-shaffer syndrome 11.1
43 retinoblastoma 11.0
44 acanthosis nigricans 10.5
45 acrofrontofacionasal dysostosis 1 10.4
46 oculomaxillofacial dysostosis 10.4
47 hemifacial hyperplasia 10.4 FGFR2 FGFR3
48 luteoma 10.3 FGFR3 FGFR2
49 beare-stevenson cutis gyrata syndrome 10.3 FGFR3 FGFR2
50 horns in sheep 10.2

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:

60 33 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 abnormal facial shape 60 33 hallmark (90%) Very frequent (99-80%) HP:0001999
3 multiple suture craniosynostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0011324
4 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
5 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
6 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
7 increased intracranial pressure 60 33 frequent (33%) Frequent (79-30%) HP:0002516
8 brachycephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000248
9 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
10 cerebellar hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001321
11 arnold-chiari malformation 60 33 frequent (33%) Frequent (79-30%) HP:0002308
12 hypoplasia of the maxilla 60 33 frequent (33%) Frequent (79-30%) HP:0000327
13 conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000405
14 turricephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000262
15 conjunctivitis 60 33 frequent (33%) Frequent (79-30%) HP:0000509
16 midface retrusion 60 33 frequent (33%) Frequent (79-30%) HP:0011800
17 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
18 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
19 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
20 narrow palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000189
21 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
22 acanthosis nigricans 60 33 occasional (7.5%) Occasional (29-5%) HP:0000956
23 melanocytic nevus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000995
24 hypopigmented skin patches 60 33 occasional (7.5%) Occasional (29-5%) HP:0001053
25 choanal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000453
26 amblyopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000646
27 convex nasal ridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000444
28 headache 60 33 occasional (7.5%) Occasional (29-5%) HP:0002315
29 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
30 narrow internal auditory canal 60 33 occasional (7.5%) Occasional (29-5%) HP:0011386
31 intellectual disability 33 occasional (7.5%) HP:0001249
32 abnormal sacrum morphology 33 occasional (7.5%) HP:0005107
33 seizures 33 HP:0001250
34 sleep apnea 33 HP:0010535
35 mandibular prognathia 33 HP:0000303
36 hearing impairment 60 Occasional (29-5%)
37 visual impairment 33 HP:0000505
38 abnormality of the skull 60 Very frequent (99-80%)
39 keratitis 33 HP:0000491
40 coronal craniosynostosis 33 HP:0004440
41 dental crowding 33 HP:0000678
42 atresia of the external auditory canal 33 HP:0000413
43 abnormality of the sacrum 60 Occasional (29-5%)
44 abnormality of the cervical spine 33 HP:0003319
45 sagittal craniosynostosis 33 HP:0004442
46 shallow orbits 33 HP:0000586
47 dysgerminoma 33 HP:0100621
48 lambdoidal craniosynostosis 33 HP:0004443
49 craniofacial dysostosis 33 HP:0004439
50 abnormality of the nasopharynx 33 HP:0001739

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
optic atrophy
strabismus
proptosis
shallow orbits
more
Neurologic Central Nervous System:
seizures
mental retardation, occasional
frequent headaches

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

Respiratory Nasopharynx:
sleep apnea

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

UMLS symptoms related to Crouzon Syndrome:


seizures, frequent headaches

MGI Mouse Phenotypes related to Crouzon Syndrome:

47 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 ALX3 DCN ERF FGF13 FGF2 FGFR1
2 behavior/neurological MP:0005386 10.28 ALX3 DCN FGF13 FGF2 FGFR1 FGFR2
3 growth/size/body region MP:0005378 10.25 ALX3 BMP6 DCN ERF FGFR1 FGFR2
4 mortality/aging MP:0010768 10.22 ALX3 DCN ERF FGF13 FGF2 FGFR1
5 craniofacial MP:0005382 10.21 ALX3 DCN ERF FGFR1 FGFR2 FGFR3
6 cardiovascular system MP:0005385 10.18 ERF FGF2 FGFR1 FGFR2 MSX2 RPS6KB2
7 digestive/alimentary MP:0005381 10.15 ALX3 DCN FGFR1 FGFR2 FGFR3 MSX2
8 endocrine/exocrine gland MP:0005379 10.13 ALX3 DCN FGFR1 FGFR2 MSX2 RPS6KB2
9 hematopoietic system MP:0005397 10.13 DCN ERF FGF2 FGFR1 FGFR2 FGFR3
10 embryo MP:0005380 10.08 ALX3 ERF FGFR1 FGFR2 MSX2 TCOF1
11 muscle MP:0005369 10.02 DCN FGF2 FGFR1 FGFR2 MSX2 RPS6KB2
12 integument MP:0010771 10 DCN FGFR1 FGFR2 FGFR3 MSX2 TGFB1
13 nervous system MP:0003631 10 ALX3 ERF FGF13 FGF2 FGFR1 FGFR2
14 hearing/vestibular/ear MP:0005377 9.97 FGF2 FGFR1 FGFR2 FGFR3 MSX2 TCOF1
15 limbs/digits/tail MP:0005371 9.91 ALX3 FGFR1 FGFR2 FGFR3 MSX2 TGFBR3
16 reproductive system MP:0005389 9.85 ALX3 BMP6 DCN FGF2 FGFR1 FGFR2
17 neoplasm MP:0002006 9.8 DCN FGF2 FGFR2 FGFR3 RPS6KB2 TGFB1
18 skeleton MP:0005390 9.77 ALX3 BMP6 DCN ERF FGF2 FGFR1
19 vision/eye MP:0005391 9.28 ALX3 DCN FGF2 FGFR1 FGFR2 FGFR3

Drugs & Therapeutics for Crouzon Syndrome

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

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 3 15663-27-1 441203 84093 2767
2
Gemcitabine Approved Phase 3 95058-81-4 60750
3
Docetaxel Approved, Investigational Phase 2, Phase 3 114977-28-5 148124
4 Antimetabolites Phase 3,Phase 2,Not Applicable
5 Mitogens Phase 3,Phase 1,Phase 2
6 Antiviral Agents Phase 3
7 Anti-Infective Agents Phase 3
8 Immunosuppressive Agents Phase 3
9 Antimetabolites, Antineoplastic Phase 3
10 Immunologic Factors Phase 3,Phase 1
11 Antimitotic Agents Phase 2, Phase 3
12
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
13
Ponatinib Approved, Investigational Phase 2 943319-70-8 24826799
14
tannic acid Approved Phase 1, Phase 2 1401-55-4
15
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
16 Phytosterol Phase 1, Phase 2,Not Applicable
17 Lipid Regulating Agents Phase 2,Not Applicable
18 Anticholesteremic Agents Phase 2,Not Applicable
19 Hypolipidemic Agents Phase 2,Not Applicable
20 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
21 Liver Extracts Phase 2,Phase 1
22 tyrosine Phase 1, Phase 2
23 Protein Kinase Inhibitors Phase 2
24 Cholic Acids Phase 1, Phase 2
25 Gastrointestinal Agents Phase 1, Phase 2
26 Protective Agents Phase 2
27 Anesthetics Phase 2
28 Antioxidants Phase 2
29 Immunoglobulins Phase 1
30 Immunoconjugates Phase 1
31 Antibodies, Monoclonal Phase 1
32 Antibodies Phase 1
33
Adenosine Approved, Investigational 58-61-7 60961
34 Analgesics
35 Anti-Arrhythmia Agents
36 Neurotransmitter Agents
37 Peripheral Nervous System Agents
38 Vasodilator Agents

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 Phase 3 Study of BGJ398 (Oral Infigratinib) in First Line Cholangiocarcinoma With FGFR2 Gene Fusions/Translocations Recruiting NCT03773302 Phase 3 BGJ398;Gemcitabine;Cisplatin
2 A Study of Bemarituzumab (FPA144) Combined With Modified FOLFOX6 (mFOLFOX6) in Gastric/Gastroesophageal Junction Cancer (FIGHT) Recruiting NCT03694522 Phase 3 bemarituzumab (FPA144);Placebo;mFOLFOX6
3 Lung-MAP: AZD4547 as Second-Line Therapy in Treating FGFR Positive Patients With Recurrent Stage IV Squamous Cell Lung Cancer Active, not recruiting NCT02965378 Phase 2, Phase 3 Docetaxel;FGFR Inhibitor AZD4547
4 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
5 Derazantinib in Subjects With FGFR2 Gene Fusion Positive Inoperable or Advanced Intrahepatic Cholangiocarcinoma Recruiting NCT03230318 Phase 2 derazantinib
6 A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma Recruiting NCT02150967 Phase 2 BGJ398 (infigratinib)
7 Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic Alterations Completed NCT01752920 Phase 1, Phase 2 ARQ 087
8 A Study of TAS-120 in Patients With Advanced Solid Tumors Recruiting NCT02052778 Phase 1, Phase 2 TAS-120
9 Dovitinib for Gastric Cancer With FGFR2 Amplification Completed NCT01719549 Phase 2 Dovitinib
10 Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 Fusions Active, not recruiting NCT02265341 Phase 2 Ponatinib Hydrochloride
11 BGJ398 in Treating Patients With FGFR Positive Recurrent Head and Neck Cancer Recruiting NCT02706691 Phase 2 BGJ398
12 Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03210714 Phase 2 Erdafitinib
13 Smith-Lemli-Opitz Syndrome and Cholic Acid Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
14 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
15 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
16 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
17 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
18 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
19 Phase I, Dose-escalation Trial of BAY1187982 in Subjects With Advanced Solid Tumors Known to Express Fibroblast Growth Factor Receptor 2 (FGFR2) Terminated NCT02368951 Phase 1 BAY1187982
20 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
21 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752 Not Applicable
22 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
23 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
24 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420 Not Applicable
25 Observing the Relationship of Fibroblast Growth Factor and Fibroblast in Thyroid Eye Disease Recruiting NCT03324022
26 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Not yet recruiting NCT01306994
27 Molecular and Structural Comparison of Hypospadic and Normal Children Prepuces Not yet recruiting NCT03838458
28 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
29 Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions Terminated NCT01307475
30 Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) Recruiting NCT01630460
31 Computer Guided for Mandibular Distraction Osteogenesis Completed NCT03869021 Not Applicable
32 Evaluation of Effect of Bone Marrow Aspirate Concentrate on Distracted Mandibular Bone Properties Completed NCT03861650 Not Applicable
33 Fat Grafts With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children Recruiting NCT03806361 Not Applicable
34 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
35 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
36 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425
37 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
38 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
39 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721

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 30

Anatomical Context for Crouzon Syndrome

MalaCards organs/tissues related to Crouzon Syndrome:

42
Bone, Eye, Lung, Skin, Liver, Thyroid, 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 203)
# Title Authors Year
1
Lack of association of cranial lacunae with intracranial hypertension in children with Crouzon syndrome and Apert syndrome: a 3D morphometric quantitative analysis. ( 30661112 )
2019
2
Crouzon syndrome: Genetic and intervention review. ( 30202723 )
2019
3
Midface correction in patients with Crouzon syndrome is Le Fort III distraction osteogenesis with a rigid external distraction device the gold standard? ( 30642732 )
2019
4
Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome. ( 30719288 )
2019
5
A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation. ( 29067506 )
2018
6
An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome. ( 29848297 )
2018
7
Airway management in a patient with Crouzon syndrome proposed to orthognathic surgery. ( 29848516 )
2018
8
Using Photovoice to Explore Quality of Life Factors of Adults With Crouzon Syndrome. ( 29224414 )
2018
9
Pattern of Closure of Skull Base Synchondroses in Crouzon Syndrome. ( 29024761 )
2018
10
Improvement of Color Vision Following Posterior Cranial Vault Distraction for Crouzon Syndrome. ( 29485554 )
2018
11
Dental consequences of pterygomaxillary dysjunction during fronto-facial monobloc advancement with internal distraction for Crouzon syndrome. ( 29970285 )
2018
12
Glaucoma With Crouzon Syndrome. ( 29557836 )
2018
13
Extensive phenotyping of the orofacial and dental complex in Crouzon syndrome. ( 29223639 )
2018
14
Crouzon Syndrome Associated with Congenital Coarctation of Aorta. ( 29893369 )
2018
15
Postoperative Hearing Loss in a Patient With Crouzon Syndrome: A Case Report. ( 29634565 )
2018
16
C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model. ( 30048539 )
2018
17
Orbit, zygoma, and maxilla growth patterns in Crouzon syndrome. ( 30389113 )
2018
18
Optic Nerve Hypoplasia and Crouzon Syndrome. ( 30571838 )
2018
19
Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management. ( 29109840 )
2017
20
Clinical characteristics of Crouzon syndrome. ( 28757702 )
2017
21
Crouzon Syndrome: A Case Series of Craniomaxillofacial Distraction Osteogenesis for Functional Rehabilitation. ( 29268076 )
2017
22
Anesthetic Implications in a Child with Crouzon Syndrome. ( 28298794 )
2017
23
Surgical Correction of Severe Kyphoscoliosis Associated with Crouzon Syndrome with Serious Postoperative Respiratory Problems: A Case Report. ( 29280899 )
2017
24
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. ( 28901406 )
2017
25
Midface Distraction Osteogenesis Using a Modified External Device With Elastic Distraction for Crouzon Syndrome. ( 28060091 )
2017
26
Sleep-related hypermotor epilepsy in a patient with mild Crouzon syndrome. ( 29235060 )
2017
27
Crouzon syndrome - A rare case report. ( 29085273 )
2017
28
Crouzon syndrome with multiple supernumerary teeth. ( 28091449 )
2017
29
Subluxation of Eyes in Crouzon Syndrome. ( 28891490 )
2017
30
The effect of early fusion of the spheno-occipital synchondrosis on midface hypoplasia and obstructive sleep apnea in patients with Crouzon syndrome. ( 28479031 )
2017
31
FGFR2 mutation in a Chinese family with unusual Crouzon syndrome. ( 27803855 )
2016
32
Individualized therapy for treating obstructive sleep apnea in pediatric Crouzon syndrome patients. ( 27424047 )
2016
33
Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome. ( 27430617 )
2016
34
Crouzon syndrome: Virtual planning of surgical treatment by application of internal distractors. ( 27563623 )
2016
35
The Phenotypes of Spheno-Occipital Synchondrosis in Patients With Crouzon Syndrome. ( 27391494 )
2016
36
High Le Fort I osteotomy for correction of mid-face deformity in Crouzon syndrome. ( 27092811 )
2016
37
Crouzon Syndrome: Report in a Family. ( 26894196 )
2016
38
Raised intracranial pressure in Crouzon syndrome: incidence, causes, and management. ( 26613275 )
2016
39
A Novel Technique Using Customized Headgear for Fixation of Rigid External Distraction Device in an Infant With Crouzon Syndrome. ( 26594993 )
2015
40
The C342R Mutation in FGFR2 Causes Crouzon Syndrome With Elbow Deformity. ( 25759925 )
2015
41
Crouzon syndrome: Ophthalmologic complications in an untreated adult patient. ( 26194556 )
2015
42
Crouzon Syndrome: Visual Diagnosis. ( 26283152 )
2015
43
Comment on "S267P Mutation in FGFR2: First Report in a Patient With Crouzon Syndrome". ( 26460964 )
2015
44
Crouzon Syndrome: Relationship of Eye Movements to Pattern Strabismus. ( 26176876 )
2015
45
Deep Venous Thrombosis in Teen With Crouzon Syndrome Post-Le Fort III Osteotomy With Rigid External Distraction. ( 26595005 )
2015
46
Surgical Treatment of V-pattern Exotropia in Crouzon Syndrome. ( 26098546 )
2015
47
Family of Crouzon Syndrome Represents the Evolution of the Frontofacial Monobloc Advancement Technique: From Immediate Movement to Monobloc Distraction to Monobloc Bipartition Distraction. ( 26267562 )
2015
48
Monobloc Le Fort III Distraction Osteogenesis for Correction of Severe Fronto-orbital and Midface Hypoplasia in Pediatric Crouzon Syndrome. ( 25650655 )
2015
49
Lumboatrial shunt in a patient with Crouzon syndrome complicated by pseudotumor cerebri. ( 26021731 )
2015
50
Bilateral meningoencephaloceles with cerebrospinal fluid rhinorrhea after facial advancement in the Crouzon syndrome. ( 26302737 )
2015

Variations for Crouzon Syndrome

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

76 (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
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
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

ClinVar genetic disease variations for Crouzon Syndrome:

6 (show top 50) (show all 184)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
2 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
3 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
4 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
5 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs121918487 GRCh37 Chromosome 10, 123276892: 123276892
6 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs121918487 GRCh38 Chromosome 10, 121517378: 121517378
7 FGFR2 NM_000141.4(FGFR2): c.1018T> C (p.Tyr340His) single nucleotide variant Pathogenic rs121918489 GRCh37 Chromosome 10, 123276899: 123276899
8 FGFR2 NM_000141.4(FGFR2): c.1018T> C (p.Tyr340His) single nucleotide variant Pathogenic rs121918489 GRCh38 Chromosome 10, 121517385: 121517385
9 FGFR2 NM_000141.4(FGFR2): c.1061C> G (p.Ser354Cys) single nucleotide variant Pathogenic rs121918490 GRCh37 Chromosome 10, 123276856: 123276856
10 FGFR2 NM_000141.4(FGFR2): c.1061C> G (p.Ser354Cys) single nucleotide variant Pathogenic rs121918490 GRCh38 Chromosome 10, 121517342: 121517342
11 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
12 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh38 Chromosome 10, 121517379: 121517379
13 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
14 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh38 Chromosome 10, 121517379: 121517379
15 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh37 Chromosome 10, 123276885: 123276885
16 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh38 Chromosome 10, 121517371: 121517371
17 FGFR2 NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly) single nucleotide variant Pathogenic rs121918492 GRCh37 Chromosome 10, 123276886: 123276886
18 FGFR2 NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly) single nucleotide variant Pathogenic rs121918492 GRCh38 Chromosome 10, 121517372: 121517372
19 FGFR2 NM_000141.4(FGFR2): c.983A> G (p.Tyr328Cys) single nucleotide variant Pathogenic rs121918493 GRCh37 Chromosome 10, 123276934: 123276934
20 FGFR2 NM_000141.4(FGFR2): c.983A> G (p.Tyr328Cys) single nucleotide variant Pathogenic rs121918493 GRCh38 Chromosome 10, 121517420: 121517420
21 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918494 GRCh37 Chromosome 10, 123276877: 123276877
22 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918494 GRCh38 Chromosome 10, 121517363: 121517363
23 FGFR2 NM_000141.4(FGFR2): c.1026C> G (p.Cys342Trp) single nucleotide variant Pathogenic rs121918496 GRCh37 Chromosome 10, 123276891: 123276891
24 FGFR2 NM_000141.4(FGFR2): c.1026C> G (p.Cys342Trp) single nucleotide variant Pathogenic rs121918496 GRCh38 Chromosome 10, 121517377: 121517377
25 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh37 Chromosome 10, 123279566: 123279566
26 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh38 Chromosome 10, 121520052: 121520052
27 FGFR2 NM_000141.4(FGFR2): c.874A> G (p.Lys292Glu) single nucleotide variant Pathogenic rs121918500 GRCh37 Chromosome 10, 123279558: 123279558
28 FGFR2 NM_000141.4(FGFR2): c.874A> G (p.Lys292Glu) single nucleotide variant Pathogenic rs121918500 GRCh38 Chromosome 10, 121520044: 121520044
29 FGFR2 NM_000141.4(FGFR2): c.868T> C (p.Trp290Arg) single nucleotide variant Pathogenic rs121918501 GRCh37 Chromosome 10, 123279564: 123279564
30 FGFR2 NM_000141.4(FGFR2): c.868T> C (p.Trp290Arg) single nucleotide variant Pathogenic rs121918501 GRCh38 Chromosome 10, 121520050: 121520050
31 FGFR2 NM_000141.4(FGFR2): c.868T> G (p.Trp290Gly) single nucleotide variant Pathogenic rs121918501 GRCh37 Chromosome 10, 123279564: 123279564
32 FGFR2 NM_000141.4(FGFR2): c.868T> G (p.Trp290Gly) single nucleotide variant Pathogenic rs121918501 GRCh38 Chromosome 10, 121520050: 121520050
33 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh37 Chromosome 10, 123279633: 123279633
34 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh38 Chromosome 10, 121520119: 121520119
35 FGFR2 NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu) single nucleotide variant Pathogenic rs121918507 GRCh37 Chromosome 10, 123258105: 123258105
36 FGFR2 NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu) single nucleotide variant Pathogenic rs121918507 GRCh38 Chromosome 10, 121498591: 121498591
37 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 GRCh38 Chromosome 10, 121517316: 121517316
38 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 GRCh37 Chromosome 10, 123276830: 123276830
39 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
40 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
41 FGFR2 NM_000141.4(FGFR2): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs387906676 GRCh37 Chromosome 10, 123276908: 123276908
42 FGFR2 NM_000141.4(FGFR2): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs387906676 GRCh38 Chromosome 10, 121517394: 121517394
43 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh37 Chromosome 10, 123353315: 123353315
44 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh38 Chromosome 10, 121593801: 121593801
45 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh37 Chromosome 10, 123325158: 123325158
46 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh38 Chromosome 10, 121565644: 121565644
47 FGFR2 NM_000141.4(FGFR2): c.557T> C (p.Met186Thr) single nucleotide variant Benign rs755793 GRCh37 Chromosome 10, 123310871: 123310871
48 FGFR2 NM_000141.4(FGFR2): c.557T> C (p.Met186Thr) single nucleotide variant Benign rs755793 GRCh38 Chromosome 10, 121551357: 121551357
49 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh37 Chromosome 10, 123279482: 123279482
50 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh38 Chromosome 10, 121519968: 121519968

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 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
2
Show member pathways
13.68 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
3
Show member pathways
13.52 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
4
Show member pathways
13.49 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
5
Show member pathways
13.39 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
6
Show member pathways
13.3 FGF2 FGFR1 FGFR2 FGFR3 IL11RA TGFB1
7
Show member pathways
13.28 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
8
Show member pathways
13.23 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
9
Show member pathways
13.18 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.99 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.94 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
12
Show member pathways
12.92 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.83 FGFR1 FGFR2 FGFR3 TGFB1 TGFBR3
14 12.82 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2 TGFB1
15 12.74 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
16
Show member pathways
12.74 FGF2 FGFR1 FGFR2 RPS6KB2 TGFB1
17
Show member pathways
12.71 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
18
Show member pathways
12.68 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
19 12.61 FGF13 FGF2 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.53 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.47 FGFR1 FGFR2 FGFR3 RPS6KB2
22
Show member pathways
12.44 FGF13 FGF2 FGFR1 FGFR2 FGFR3
23
Show member pathways
12.42 FGFR1 FGFR2 FGFR3 TGFBR3
24
Show member pathways
12.39 FGF2 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.38 FGF13 FGF2 FGFR1 FGFR2 FGFR3
26
Show member pathways
12.32 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
27 12.27 DCN FGF2 FGFR1 RPS6KB2 TGFB1
28
Show member pathways
12.26 FGF2 FGFR1 FGFR2 FGFR3
29
Show member pathways
12.22 FGF2 FGFR1 FGFR2 FGFR3
30
Show member pathways
12.19 FGFR1 FGFR2 FGFR3 IL11RA RPS6KB2
31
Show member pathways
12.15 FGF2 FGFR1 FGFR2 FGFR3
32 12.12 FGF2 FGFR1 FGFR2 FGFR3
33 12.11 FGFR1 FGFR2 FGFR3 IL11RA RPS6KB2
34 12.09 FGF2 FGFR1 FGFR2 FGFR3
35 12.01 FGF13 FGF2 TGFB1
36
Show member pathways
11.88 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
37 11.84 BMP6 DCN RPS6KB2 TGFB1
38 11.81 FGF2 FGFR1 FGFR2 FGFR3 MSX2
39 11.76 FGF2 FGFR1 FGFR3
40 11.67 FGFR1 FGFR2 FGFR3
41 11.53 FGF2 FGFR1 TGFB1 TGFBR3
42 11.49 FGFR1 FGFR2 FGFR3
43 11.47 BMP6 FGF2 FGFR1 FGFR3 TGFB1
44 11.44 FGF2 FGFR1 FGFR2 FGFR3
45
Show member pathways
11.43 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
46 11.4 FGFR1 FGFR2 FGFR3 TGFB1 TGFBR3
47 11.39 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
48 11.38 FGF2 FGFR1 FGFR2 FGFR3 TGFB1 TGFBR3
49 11.22 FGF2 FGFR1 TGFB1
50 11.09 FGF2 FGFR2

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 extracellular region GO:0005576 9.65 BMP6 DCN FGF13 FGF2 FGFR1 FGFR2
2 extracellular matrix GO:0031012 9.46 DCN TGFB1 TGFBR3 VWA1
3 receptor complex GO:0043235 9.02 FGFR1 FGFR2 FGFR3 IL11RA TGFBR3

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.97 ALX3 BMP6 MSX2 TGFB1
2 peptidyl-tyrosine phosphorylation GO:0018108 9.93 FGF2 FGFR1 FGFR2 FGFR3
3 positive regulation of cell proliferation GO:0008284 9.91 BMP6 FGF2 FGFR1 FGFR2 FGFR3 IL11RA
4 skeletal system development GO:0001501 9.88 BMP6 FGFR1 FGFR3 TCOF1
5 positive regulation of MAPK cascade GO:0043410 9.87 FGFR1 FGFR2 FGFR3
6 animal organ morphogenesis GO:0009887 9.87 DCN FGF2 FGFR2
7 BMP signaling pathway GO:0030509 9.85 BMP6 MSX2 TGFBR3
8 cell differentiation GO:0030154 9.83 BMP6 ERF FGF2
9 positive regulation of protein kinase B signaling GO:0051897 9.83 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
10 negative regulation of epithelial cell proliferation GO:0050680 9.82 FGFR2 TGFB1 TGFBR3
11 positive regulation of epithelial cell proliferation GO:0050679 9.82 BMP6 FGFR2 TGFB1
12 positive regulation of MAP kinase activity GO:0043406 9.81 FGF2 FGFR1 TGFB1
13 phosphatidylinositol phosphorylation GO:0046854 9.81 FGF2 FGFR1 FGFR2 FGFR3
14 positive regulation of blood vessel endothelial cell migration GO:0043536 9.8 FGF2 FGFR1 TGFB1
15 positive regulation of cell division GO:0051781 9.79 FGF2 FGFR2 TGFB1
16 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.78 FGF2 FGFR2 FGFR3 TGFB1
17 ureteric bud development GO:0001657 9.77 FGFR1 FGFR2 TGFB1
18 chondrocyte differentiation GO:0002062 9.76 FGFR1 FGFR3 TGFB1
19 fibroblast growth factor receptor signaling pathway GO:0008543 9.76 FGF2 FGFR1 FGFR2 FGFR3
20 epithelial to mesenchymal transition GO:0001837 9.74 FGFR2 TGFB1 TGFBR3
21 bone morphogenesis GO:0060349 9.72 FGFR2 FGFR3 MSX2
22 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.71 FGF2 FGFR3 TGFB1
23 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.71 FGF2 FGFR1 FGFR2 FGFR3
24 positive regulation of vascular endothelial cell proliferation GO:1905564 9.7 FGF2 FGFR1
25 hyaluronan catabolic process GO:0030214 9.69 FGF2 TGFB1
26 pathway-restricted SMAD protein phosphorylation GO:0060389 9.68 TGFB1 TGFBR3
27 positive regulation of phospholipase C activity GO:0010863 9.68 FGF2 FGFR1
28 branching involved in salivary gland morphogenesis GO:0060445 9.68 FGFR1 FGFR2
29 positive regulation of SMAD protein signal transduction GO:0060391 9.67 BMP6 TGFB1
30 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.67 FGFR2 TGFB1 TGFBR3
31 mesenchymal cell differentiation GO:0048762 9.66 FGFR1 FGFR2
32 salivary gland morphogenesis GO:0007435 9.66 FGFR1 TGFB1
33 lung-associated mesenchyme development GO:0060484 9.65 FGFR1 FGFR2
34 frontal suture morphogenesis GO:0060364 9.61 MSX2 TGFB1
35 orbitofrontal cortex development GO:0021769 9.61 FGFR1 FGFR2
36 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.6 FGF2 FGFR1
37 ventricular zone neuroblast division GO:0021847 9.56 FGFR1 FGFR2
38 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.52 FGFR1 FGFR2
39 positive regulation of phospholipase activity GO:0010518 9.5 FGFR1 FGFR2 FGFR3
40 positive regulation of cardiac muscle cell proliferation GO:0060045 9.46 FGF2 FGFR1 FGFR2 TGFBR3
41 endochondral bone growth GO:0003416 9.43 FGFR2 FGFR3 MSX2
42 MAPK cascade GO:0000165 9.43 FGF13 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
43 wound healing GO:0042060 9.02 DCN FGF2 FGFR2 MSX2 TGFB1
44 negative regulation of transcription by RNA polymerase II GO:0000122 10.11 BMP6 ERF FGFR1 FGFR2 MSX2 TGFB1
45 protein phosphorylation GO:0006468 10.08 FGFR1 FGFR2 FGFR3 RPS6KB2 TGFB1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.78 BMP6 FGF13 FGF2 TGFB1
2 protein tyrosine kinase activity GO:0004713 9.76 FGF2 FGFR1 FGFR2 FGFR3
3 heparin binding GO:0008201 9.71 FGF2 FGFR1 FGFR2 TGFBR3
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.67 FGFR1 FGFR2 FGFR3
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.62 FGF2 FGFR1 FGFR2 FGFR3
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.56 FGF2 FGFR1 FGFR2 FGFR3
7 transforming growth factor beta receptor binding GO:0005160 9.54 BMP6 TGFB1 TGFBR3
8 type II transforming growth factor beta receptor binding GO:0005114 9.51 TGFB1 TGFBR3
9 1-phosphatidylinositol-3-kinase activity GO:0016303 9.46 FGF2 FGFR1 FGFR2 FGFR3
10 receptor-receptor interaction GO:0090722 9.43 FGF2 FGFR1
11 transmembrane signaling receptor activity GO:0004888 9.22 IL11RA
12 fibroblast growth factor-activated receptor activity GO:0005007 9.13 FGFR1 FGFR2 FGFR3
13 fibroblast growth factor binding GO:0017134 8.92 FGFR1 FGFR2 FGFR3 TGFBR3

Sources for Crouzon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....