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CS
MCID: CRZ001
MIFTS: 65

Crouzon Syndrome (CS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Crouzon Syndrome

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MalaCards integrated aliases for Crouzon Syndrome:

Name: Crouzon Syndrome 57 38 12 76 53 25 75 37 29 13 55 6 15 40
Crouzon Craniofacial Dysostosis 57 53 25 59 75
Craniofacial Dysostosis 12 76 25 44
Cfd1 57 53 75
Craniofacial Dysostosis Type 1 53 73
Crouzon's Disease 12 25
Crouzon Disease 53 59
Craniofacial Dysostosis, Type I; Cfd1 57
Craniofacial Dysostosis, Type 1; Cfd1 25
Craniofacial Dysostosis Syndrome 25
Craniofacial Dysostosis, Type I 57
Craniofacial Dysostosis Type I 75
Craniofacial Dysarthrosis 25
Crouzons Disease 25
Cs 75

Characteristics:

Orphanet epidemiological data:

59
crouzon disease
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
associated with increased paternal age


HPO:

32
crouzon syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Bone diseases Smell/Taste diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Crouzon Syndrome

About this section
NIH Rare Diseases : 53 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 Activation of cAMP-Dependent PKA. The drugs Docetaxel and Antimitotic Agents have been mentioned in the context of this disorder. Affiliated tissues include Bone, bone and eye, and related phenotypes are hypertelorism 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.

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.

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)

CDC : 3 Bromobenzylcyanide (CA), Chloroacetophenone (CN), Chlorobenzylidenemalononitrile (CS), Chloropicrin (PS), Dibenzoxazepine (CR)

UniProtKB/Swiss-Prot : 75 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 : 76 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 204)
# Related Disease Score Top Affiliating Genes
1 apert syndrome 30.2 FGFR3 FGFR2 FGFR1 FGF2
2 achondroplasia 30.2 FGFR3 FGFR2 FGFR1
3 pfeiffer syndrome 30.1 FGFR3 FGFR2 FGFR1
4 synostosis 30.0 FGFR1 FGFR2 FGFR3 MSX2
5 exophthalmos 30.0 TGFB1 FGFR3 FGFR2
6 plagiocephaly 30.0 FGFR3 FGFR2 FGFR1
7 jackson-weiss syndrome 30.0 FGFR3 FGFR2 FGFR1
8 hydrocephalus 29.8 TGFB1 FGFR3 FGFR2
9 craniosynostosis 29.8 MSX2 IL11RA FGFR3 FGFR2 FGFR1 FGF2
10 saethre-chotzen syndrome 29.8 MSX2 FGFR3 FGFR2 FGFR1
11 thanatophoric dysplasia, type i 29.7 FGFR3 FGFR2 FGFR1 FGF13
12 myelofibrosis 29.4 TGFB1 FGF2 BMP6
13 crouzon syndrome with acanthosis nigricans 12.7
14 craniofacial dysostosis with diaphyseal hyperplasia 12.5
15 craniofacial dysostosis arthrogryposis progeroid appearence 12.2
16 fontaine progeroid syndrome 12.2
17 cockayne syndrome 11.9
18 xeroderma pigmentosum, complementation group d 11.6
19 xeroderma pigmentosum, complementation group f 11.6
20 xeroderma pigmentosum, complementation group g 11.6
21 xeroderma pigmentosum, complementation group b 11.6
22 cowden disease 11.5
23 craniofacial dyssynostosis 11.5
24 primary pigmented nodular adrenocortical disease 11.5
25 acth-independent macronodular adrenal hyperplasia 11.4
26 kleeblattschaedel 11.4
27 cowden syndrome 1 11.3
28 cockayne syndrome a 11.3
29 diabetes mellitus, noninsulin-dependent 11.2
30 mitochondrial metabolism disease 11.2
31 mucopolysaccharidosis, type vii 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 cerebral creatine deficiency syndrome 11.2
37 bartonellosis 11.2
38 cat-scratch disease 11.2
39 critical illness polyneuropathy 11.2
40 leber hereditary optic neuropathy 11.2
41 carpenter syndrome 1 11.1
42 cerebrooculofacioskeletal syndrome 1 11.1
43 crisponi/cold-induced sweating syndrome 1 11.1
44 potocki-shaffer syndrome 11.1
45 central nervous system disease 11.0
46 foxp2-related speech and language disorders 11.0
47 retinoblastoma 10.8
48 acanthosis nigricans 10.4
49 acrofrontofacionasal dysostosis 1 10.4
50 oculomaxillofacial dysostosis 10.4

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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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Crouzon Syndrome:

59 32 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
4 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
5 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
6 narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000189
7 increased intracranial pressure 59 32 frequent (33%) Frequent (79-30%) HP:0002516
8 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
9 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
10 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
11 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
12 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
13 melanocytic nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000995
14 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
15 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
16 arnold-chiari malformation 59 32 frequent (33%) Frequent (79-30%) HP:0002308
17 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
18 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
19 turricephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000262
20 choanal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000453
21 multiple suture craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011324
22 amblyopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000646
23 conjunctivitis 59 32 frequent (33%) Frequent (79-30%) HP:0000509
24 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
25 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
26 convex nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000444
27 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
28 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
29 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
30 narrow internal auditory canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0011386
31 intellectual disability 32 occasional (7.5%) HP:0001249
32 seizures 32 HP:0001250
33 sleep apnea 32 HP:0010535
34 mandibular prognathia 32 HP:0000303
35 hearing impairment 59 Occasional (29-5%)
36 visual impairment 32 HP:0000505
37 abnormality of the skull 59 Very frequent (99-80%)
38 keratitis 32 HP:0000491
39 coronal craniosynostosis 32 HP:0004440
40 dental crowding 32 HP:0000678
41 atresia of the external auditory canal 32 HP:0000413
42 abnormality of the sacrum 59 Occasional (29-5%)
43 abnormality of the cervical spine 32 HP:0003319
44 sagittal craniosynostosis 32 HP:0004442
45 shallow orbits 32 HP:0000586
46 dysgerminoma 32 HP:0100621
47 lambdoidal craniosynostosis 32 HP:0004443
48 craniofacial dysostosis 32 HP:0004439
49 abnormality of the nasopharynx 32 HP:0001739
50 abnormal sacrum morphology 32 occasional (7.5%) HP:0005107

UMLS symptoms related to Crouzon Syndrome:


seizures, frequent headaches

MGI Mouse Phenotypes related to Crouzon Syndrome:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 ALX3 DCN ERF FGF13 FGF2 FGFR1
2 behavior/neurological MP:0005386 10.27 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 10.23 ALX3 DCN ERF FGF13 FGF2 FGFR1
5 craniofacial MP:0005382 10.21 ALX3 DCN ERF FGFR1 FGFR2 FGFR3
6 digestive/alimentary MP:0005381 10.15 ALX3 DCN FGFR1 FGFR2 FGFR3 MSX2
7 endocrine/exocrine gland MP:0005379 10.13 ALX3 DCN FGFR1 FGFR2 MSX2 RPS6KB2
8 nervous system MP:0003631 10.11 ALX3 ERF FGF13 FGF2 FGFR1 FGFR2
9 embryo MP:0005380 10.08 ALX3 ERF FGFR1 FGFR2 MSX2 TCOF1
10 muscle MP:0005369 10.03 DCN FGF2 FGFR1 FGFR2 MSX2 RPS6KB2
11 integument MP:0010771 10.02 DCN FGFR1 FGFR2 FGFR3 MSX2 TGFB1
12 hearing/vestibular/ear MP:0005377 9.97 FGF2 FGFR1 FGFR2 FGFR3 MSX2 TCOF1
13 reproductive system MP:0005389 9.91 ALX3 BMP6 DCN FGF2 FGFR1 FGFR2
14 neoplasm MP:0002006 9.88 DCN FGF2 FGFR2 FGFR3 RPS6KB2 TGFB1
15 normal MP:0002873 9.87 DCN ERF FGFR1 FGFR2 FGFR3 MSX2
16 skeleton MP:0005390 9.73 ALX3 BMP6 DCN ERF FGF2 FGFR1
17 respiratory system MP:0005388 9.63 ALX3 DCN FGFR2 FGFR3 TCOF1 TGFB1
18 vision/eye MP:0005391 9.28 ALX3 DCN FGF2 FGFR1 FGFR2 FGFR3
Sources

Drugs & Therapeutics for Crouzon Syndrome

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Docetaxel Approved, Investigational Phase 2, Phase 3 114977-28-5 148124
2 Antimitotic Agents Phase 2, Phase 3
3
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
4
Ponatinib Approved, Investigational Phase 2 943319-70-8 24826799
5
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
6 tannic acid Approved Phase 1, Phase 2
7 Mitogens Phase 1, Phase 2,Phase 2
8 Phytosterol Phase 1, Phase 2,Not Applicable
9 Antimetabolites Phase 2,Not Applicable
10 Lipid Regulating Agents Phase 2,Not Applicable
11 Hypolipidemic Agents Phase 2,Not Applicable
12 Anticholesteremic Agents Phase 2,Not Applicable
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
14 Liver Extracts Phase 2,Phase 1
15 tyrosine Phase 1, Phase 2
16 Protein Kinase Inhibitors Phase 2
17 Gastrointestinal Agents Phase 1, Phase 2
18 Cholic Acids Phase 1, Phase 2
19 Antioxidants Phase 2
20 Protective Agents Phase 2
21 Anesthetics Phase 2
22 Antibodies Phase 1
23 Immunoglobulins Phase 1
24
Adenosine Approved, Investigational 58-61-7 60961
25 Vasodilator Agents
26 Anti-Arrhythmia Agents
27 Neurotransmitter Agents
28 Analgesics
29 Peripheral Nervous System Agents

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Study of Oral Infigratinib in First Line Cholangiocarcinoma With FGFR2 Gene Fusions/Translocations Not yet 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 Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic Alterations Active, not recruiting NCT01752920 Phase 1, Phase 2 ARQ 087
7 A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma Recruiting NCT02150967 Phase 2 BGJ398 (infigratinib)
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 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
28 Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions Terminated NCT01307475
29 Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) Recruiting NCT01630460
30 Fat Grafts With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children Recruiting NCT03806361 Not Applicable
31 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
32 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
33 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425
34 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
35 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
36 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721

Search NIH Clinical Center for Crouzon Syndrome

Cochrane evidence based reviews: craniofacial dysostosis

Sources

Genetic Tests for Crouzon Syndrome

About this section

Genetic tests related to Crouzon Syndrome:

# Genetic test Affiliating Genes
1 Crouzon Syndrome 29 FGFR2
Sources

Anatomical Context for Crouzon Syndrome

About this section

MalaCards organs/tissues related to Crouzon Syndrome:

41
Bone, Eye, Skin, Lung, Breast, B Cells, 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

About this section

Articles related to Crouzon Syndrome:

(show top 50) (show all 199)
# Title Authors Year
1
Crouzon syndrome: Genetic and intervention review. ( 30202723 )
2019
2
A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation. ( 29067506 )
2018
3
An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome. ( 29848297 )
2018
4
Airway management in a patient with Crouzon syndrome proposed to orthognathic surgery. ( 29848516 )
2018
5
Using Photovoice to Explore Quality of Life Factors of Adults With Crouzon Syndrome. ( 29224414 )
2018
6
Pattern of Closure of Skull Base Synchondroses in Crouzon Syndrome. ( 29024761 )
2018
7
Improvement of Color Vision Following Posterior Cranial Vault Distraction for Crouzon Syndrome. ( 29485554 )
2018
8
Dental consequences of pterygomaxillary dysjunction during fronto-facial monobloc advancement with internal distraction for Crouzon syndrome. ( 29970285 )
2018
9
Glaucoma With Crouzon Syndrome. ( 29557836 )
2018
10
Extensive phenotyping of the orofacial and dental complex in Crouzon syndrome. ( 29223639 )
2018
11
Crouzon Syndrome Associated with Congenital Coarctation of Aorta. ( 29893369 )
2018
12
Postoperative Hearing Loss in a Patient With Crouzon Syndrome: A Case Report. ( 29634565 )
2018
13
C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model. ( 30048539 )
2018
14
Orbit, zygoma, and maxilla growth patterns in Crouzon syndrome. ( 30389113 )
2018
15
Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management. ( 29109840 )
2017
16
Clinical characteristics of Crouzon syndrome. ( 28757702 )
2017
17
Crouzon Syndrome: A Case Series of Craniomaxillofacial Distraction Osteogenesis for Functional Rehabilitation. ( 29268076 )
2017
18
Anesthetic Implications in a Child with Crouzon Syndrome. ( 28298794 )
2017
19
Surgical Correction of Severe Kyphoscoliosis Associated with Crouzon Syndrome with Serious Postoperative Respiratory Problems: A Case Report. ( 29280899 )
2017
20
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. ( 28901406 )
2017
21
Midface Distraction Osteogenesis Using a Modified External Device With Elastic Distraction for Crouzon Syndrome. ( 28060091 )
2017
22
Sleep-related hypermotor epilepsy in a patient with mild Crouzon syndrome. ( 29235060 )
2017
23
Crouzon syndrome - A rare case report. ( 29085273 )
2017
24
Crouzon syndrome with multiple supernumerary teeth. ( 28091449 )
2017
25
Subluxation of Eyes in Crouzon Syndrome. ( 28891490 )
2017
26
The effect of early fusion of the spheno-occipital synchondrosis on midface hypoplasia and obstructive sleep apnea in patients with Crouzon syndrome. ( 28479031 )
2017
27
FGFR2 mutation in a Chinese family with unusual Crouzon syndrome. ( 27803855 )
2016
28
Individualized therapy for treating obstructive sleep apnea in pediatric Crouzon syndrome patients. ( 27424047 )
2016
29
Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome. ( 27430617 )
2016
30
Crouzon syndrome: Virtual planning of surgical treatment by application of internal distractors. ( 27563623 )
2016
31
The Phenotypes of Spheno-Occipital Synchondrosis in Patients With Crouzon Syndrome. ( 27391494 )
2016
32
High Le Fort I osteotomy for correction of mid-face deformity in Crouzon syndrome. ( 27092811 )
2016
33
Crouzon Syndrome: Report in a Family. ( 26894196 )
2016
34
Raised intracranial pressure in Crouzon syndrome: incidence, causes, and management. ( 26613275 )
2016
35
A Novel Technique Using Customized Headgear for Fixation of Rigid External Distraction Device in an Infant With Crouzon Syndrome. ( 26594993 )
2015
36
The C342R Mutation in FGFR2 Causes Crouzon Syndrome With Elbow Deformity. ( 25759925 )
2015
37
Crouzon syndrome: Ophthalmologic complications in an untreated adult patient. ( 26194556 )
2015
38
Crouzon Syndrome: Visual Diagnosis. ( 26283152 )
2015
39
Comment on "S267P Mutation in FGFR2: First Report in a Patient With Crouzon Syndrome". ( 26460964 )
2015
40
Crouzon Syndrome: Relationship of Eye Movements to Pattern Strabismus. ( 26176876 )
2015
41
Deep Venous Thrombosis in Teen With Crouzon Syndrome Post-Le Fort III Osteotomy With Rigid External Distraction. ( 26595005 )
2015
42
Surgical Treatment of V-pattern Exotropia in Crouzon Syndrome. ( 26098546 )
2015
43
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
44
Monobloc Le Fort III Distraction Osteogenesis for Correction of Severe Fronto-orbital and Midface Hypoplasia in Pediatric Crouzon Syndrome. ( 25650655 )
2015
45
Lumboatrial shunt in a patient with Crouzon syndrome complicated by pseudotumor cerebri. ( 26021731 )
2015
46
Bilateral meningoencephaloceles with cerebrospinal fluid rhinorrhea after facial advancement in the Crouzon syndrome. ( 26302737 )
2015
47
Bilateral congenital cholesteatoma of the temporal bone in Crouzon syndrome. ( 25993748 )
2015
48
S267P mutation in FGFR2: first report in a patient with Crouzon syndrome. ( 25759927 )
2015
49
Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome. ( 25071892 )
2014
50
Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. ( 25245177 )
2014
Sources

Variations for Crouzon Syndrome

About this section

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

75 (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
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.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs121918487 GRCh37 Chromosome 10, 123276892: 123276892
2 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs121918487 GRCh38 Chromosome 10, 121517378: 121517378
3 FGFR2 NM_000141.4(FGFR2): c.1018T> C (p.Tyr340His) single nucleotide variant Pathogenic rs121918489 GRCh37 Chromosome 10, 123276899: 123276899
4 FGFR2 NM_000141.4(FGFR2): c.1018T> C (p.Tyr340His) single nucleotide variant Pathogenic rs121918489 GRCh38 Chromosome 10, 121517385: 121517385
5 FGFR2 NM_000141.4(FGFR2): c.1061C> G (p.Ser354Cys) single nucleotide variant Pathogenic rs121918490 GRCh37 Chromosome 10, 123276856: 123276856
6 FGFR2 NM_000141.4(FGFR2): c.1061C> G (p.Ser354Cys) single nucleotide variant Pathogenic rs121918490 GRCh38 Chromosome 10, 121517342: 121517342
7 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
8 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh38 Chromosome 10, 121517379: 121517379
9 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
10 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh38 Chromosome 10, 121517379: 121517379
11 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh37 Chromosome 10, 123276885: 123276885
12 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh38 Chromosome 10, 121517371: 121517371
13 FGFR2 NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly) single nucleotide variant Pathogenic rs121918492 GRCh37 Chromosome 10, 123276886: 123276886
14 FGFR2 NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly) single nucleotide variant Pathogenic rs121918492 GRCh38 Chromosome 10, 121517372: 121517372
15 FGFR2 NM_000141.4(FGFR2): c.983A> G (p.Tyr328Cys) single nucleotide variant Pathogenic rs121918493 GRCh37 Chromosome 10, 123276934: 123276934
16 FGFR2 NM_000141.4(FGFR2): c.983A> G (p.Tyr328Cys) single nucleotide variant Pathogenic rs121918493 GRCh38 Chromosome 10, 121517420: 121517420
17 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918494 GRCh37 Chromosome 10, 123276877: 123276877
18 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918494 GRCh38 Chromosome 10, 121517363: 121517363
19 FGFR2 NM_000141.4(FGFR2): c.1026C> G (p.Cys342Trp) single nucleotide variant Pathogenic rs121918496 GRCh37 Chromosome 10, 123276891: 123276891
20 FGFR2 NM_000141.4(FGFR2): c.1026C> G (p.Cys342Trp) single nucleotide variant Pathogenic rs121918496 GRCh38 Chromosome 10, 121517377: 121517377
21 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh37 Chromosome 10, 123279566: 123279566
22 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh38 Chromosome 10, 121520052: 121520052
23 FGFR2 NM_000141.4(FGFR2): c.874A> G (p.Lys292Glu) single nucleotide variant Pathogenic rs121918500 GRCh37 Chromosome 10, 123279558: 123279558
24 FGFR2 NM_000141.4(FGFR2): c.874A> G (p.Lys292Glu) single nucleotide variant Pathogenic rs121918500 GRCh38 Chromosome 10, 121520044: 121520044
25 FGFR2 NM_000141.4(FGFR2): c.868T> C (p.Trp290Arg) single nucleotide variant Pathogenic rs121918501 GRCh37 Chromosome 10, 123279564: 123279564
26 FGFR2 NM_000141.4(FGFR2): c.868T> C (p.Trp290Arg) single nucleotide variant Pathogenic rs121918501 GRCh38 Chromosome 10, 121520050: 121520050
27 FGFR2 NM_000141.4(FGFR2): c.868T> G (p.Trp290Gly) single nucleotide variant Pathogenic rs121918501 GRCh37 Chromosome 10, 123279564: 123279564
28 FGFR2 NM_000141.4(FGFR2): c.868T> G (p.Trp290Gly) single nucleotide variant Pathogenic rs121918501 GRCh38 Chromosome 10, 121520050: 121520050
29 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh37 Chromosome 10, 123279633: 123279633
30 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh38 Chromosome 10, 121520119: 121520119
31 FGFR2 NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu) single nucleotide variant Pathogenic rs121918507 GRCh37 Chromosome 10, 123258105: 123258105
32 FGFR2 NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu) single nucleotide variant Pathogenic rs121918507 GRCh38 Chromosome 10, 121498591: 121498591
33 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 GRCh38 Chromosome 10, 121517316: 121517316
34 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 GRCh37 Chromosome 10, 123276830: 123276830
35 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
36 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
37 FGFR2 NM_000141.4(FGFR2): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs387906676 GRCh37 Chromosome 10, 123276908: 123276908
38 FGFR2 NM_000141.4(FGFR2): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs387906676 GRCh38 Chromosome 10, 121517394: 121517394
39 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh37 Chromosome 10, 123353315: 123353315
40 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh38 Chromosome 10, 121593801: 121593801
41 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh37 Chromosome 10, 123325158: 123325158
42 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh38 Chromosome 10, 121565644: 121565644
43 FGFR2 NM_000141.4(FGFR2): c.557T> C (p.Met186Thr) single nucleotide variant Benign rs755793 GRCh37 Chromosome 10, 123310871: 123310871
44 FGFR2 NM_000141.4(FGFR2): c.557T> C (p.Met186Thr) single nucleotide variant Benign rs755793 GRCh38 Chromosome 10, 121551357: 121551357
45 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh37 Chromosome 10, 123279482: 123279482
46 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh38 Chromosome 10, 121519968: 121519968
47 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
48 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
49 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
50 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
Sources

Expression for Crouzon Syndrome

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

Pathways for Crouzon Syndrome

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

(show top 50) (show all 53)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.78 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
2
Activation of cAMP-Dependent PKA 64
Show member pathways
 13.49 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
3
TGF-Beta Pathway 64
Show member pathways
 13.48 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
4
Akt Signaling 64
Show member pathways
 13.35 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
5
Cytokine Signaling in Immune system 66
Show member pathways
 13.29 FGF2 FGFR1 FGFR2 FGFR3 IL11RA TGFB1
6
CREB Pathway 64
Show member pathways
 13.27 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
7
PAK Pathway 64
Show member pathways
 13.22 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
8
Nanog in Mammalian ESC Pluripotency 64
Show member pathways
 13.18 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
9
PI3K/AKT activation 66
Show member pathways
 13.04 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
10
Phospholipase-C Pathway 64
Show member pathways
 13 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
11
p70S6K Signaling 64
Show member pathways
 12.98 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
12
PI3K-Akt signaling pathway 37
Show member pathways
 12.93 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
13
Pathways in cancer 37
12.8 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2 TGFB1
14
Glioma 37
Show member pathways
 12.74 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
15
MAPK signaling pathway 37 1
12.74 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
16
Gastric cancer 37
Show member pathways
 12.73 FGF2 FGFR1 FGFR2 RPS6KB2 TGFB1
17
Downstream signaling events of B Cell Receptor (BCR) 66
Show member pathways
 12.7 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
18
Ras signaling pathway 37
Show member pathways
 12.65 FGF2 FGFR1 FGFR2 FGFR3
19
Regulation of actin cytoskeleton 1 37
12.59 FGF13 FGF2 FGFR1 FGFR2 FGFR3
20
Negative regulation of FGFR1 signaling 66
Show member pathways
 12.53 FGF2 FGFR1 FGFR2 FGFR3
21
NF-KappaB Family Pathway 64
Show member pathways
 12.53 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
22
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.45 FGFR1 FGFR2 FGFR3 RPS6KB2
23
Development FGFR signaling pathway 22
Show member pathways
 12.42 FGF13 FGF2 FGFR1 FGFR2 FGFR3
24
mTOR signalling 66
Show member pathways
 12.38 FGF2 FGFR1 FGFR2 FGFR3
25
RhoGDI Pathway 64
Show member pathways
 12.36 FGF13 FGF2 FGFR1 FGFR2 FGFR3
26
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.27 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
27
Signaling by FGFR2 66
Show member pathways
 12.25 FGF2 FGFR1 FGFR2 FGFR3
28
Proteoglycans in cancer 37
12.24 DCN FGF2 FGFR1 RPS6KB2 TGFB1
29
VEGF Signaling Pathway 61 67
Show member pathways
 12.21 FGF2 FGFR1 FGFR2 FGFR3
30
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 12.17 FGFR1 FGFR2 FGFR3 IL11RA RPS6KB2
31
Signaling by FGFR2 in disease 66
Show member pathways
 12.14 FGF2 FGFR1 FGFR2 FGFR3
32
Tyrosine Kinases / Adaptors 4
12.1 FGF2 FGFR1 FGFR2 FGFR3
33
MicroRNAs in cardiomyocyte hypertrophy 1
Show member pathways
 12.09 FGF2 FGFR2 TGFB1
34
Signaling pathways regulating pluripotency of stem cells 37
12.07 FGF2 FGFR1 FGFR2 FGFR3
35
AKT Signaling Pathway 67
12.06 FGFR1 FGFR2 FGFR3 IL11RA RPS6KB2
36
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
12 FGF13 FGF2 TGFB1
37
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 11.91 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
38
Neural Crest Differentiation 1
11.81 FGF2 FGFR1 FGFR2 FGFR3 MSX2
39
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.81 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
40
TGF-beta signaling pathway (KEGG) 37
11.8 BMP6 DCN RPS6KB2 TGFB1
41
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.76 FGF2 FGFR1 FGFR3
42
Central carbon metabolism in cancer 37
11.67 FGFR1 FGFR2 FGFR3
43
Angiogenesis (CST) 4
11.67 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
44
Cell adhesion_Plasmin signaling 22
11.52 FGF2 FGFR1 TGFB1
45
Alzheimers Disease Pathway 64
11.48 FGFR1 FGFR2 FGFR3
46
Vemurafenib Pathway, Pharmacodynamics 61
11.38 FGF2 FGFR1 FGFR2 FGFR3
47
G-protein signaling_Cross-talk between Ras-family GTPases 22
11.37 FGFR1 FGFR2 FGFR3 TGFB1
48
Glypican 1 network 1
11.21 FGF2 FGFR1 TGFB1
49
Endochondral Ossification 1
11.17 BMP6 FGF2 FGFR1 FGFR3 TGFB1
50
Angiogenesis (WikiPathways) 1
11.09 FGF2 FGFR2
Sources

GO Terms for Crouzon Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.46 DCN FGFR2 TGFB1 VWA1
2 extracellular region GO:0005576 9.28 BMP6 DCN FGF13 FGF2 FGFR1 FGFR2
3 receptor complex GO:0043235 9.26 FGFR1 FGFR2 FGFR3 IL11RA

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 9.95 ALX3 BMP6 MSX2 TGFB1
2 peptidyl-tyrosine phosphorylation GO:0018108 9.91 FGF2 FGFR1 FGFR2 FGFR3
3 positive regulation of MAPK cascade GO:0043410 9.86 FGFR1 FGFR2 FGFR3
4 skeletal system development GO:0001501 9.86 BMP6 FGFR1 FGFR3 TCOF1
5 animal organ morphogenesis GO:0009887 9.85 DCN FGF2 FGFR2
6 negative regulation of signal transduction GO:0009968 9.85 FGFR1 FGFR2 FGFR3
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.85 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
8 positive regulation of epithelial cell proliferation GO:0050679 9.81 BMP6 FGFR2 TGFB1
9 positive regulation of MAP kinase activity GO:0043406 9.8 FGF2 FGFR1 TGFB1
10 positive regulation of protein kinase B signaling GO:0051897 9.8 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
11 positive regulation of cell proliferation GO:0008284 9.8 BMP6 FGF2 FGFR1 FGFR2 FGFR3 IL11RA
12 positive regulation of blood vessel endothelial cell migration GO:0043536 9.79 FGF2 FGFR1 TGFB1
13 positive regulation of cell division GO:0051781 9.78 FGF2 FGFR2 TGFB1
14 phosphatidylinositol phosphorylation GO:0046854 9.78 FGF2 FGFR1 FGFR2 FGFR3
15 ureteric bud development GO:0001657 9.75 FGFR1 FGFR2 TGFB1
16 chondrocyte differentiation GO:0002062 9.74 FGFR1 FGFR3 TGFB1
17 fibroblast growth factor receptor signaling pathway GO:0008543 9.73 FGF2 FGFR1 FGFR2 FGFR3
18 positive regulation of cardiac muscle cell proliferation GO:0060045 9.72 FGF2 FGFR1 FGFR2
19 bone morphogenesis GO:0060349 9.7 FGFR2 FGFR3 MSX2
20 endochondral ossification GO:0001958 9.69 BMP6 FGFR3
21 positive regulation of mesenchymal cell proliferation GO:0002053 9.69 FGFR1 FGFR2
22 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.69 FGFR2 TGFB1
23 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.69 FGF2 FGFR3 TGFB1
24 positive regulation of vascular endothelial cell proliferation GO:1905564 9.68 FGF2 FGFR1
25 hyaluronan catabolic process GO:0030214 9.67 FGF2 TGFB1
26 positive regulation of phospholipase C activity GO:0010863 9.67 FGF2 FGFR1
27 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.67 FGF2 FGFR1 FGFR2 FGFR3
28 branching involved in salivary gland morphogenesis GO:0060445 9.66 FGFR1 FGFR2
29 positive regulation of SMAD protein signal transduction GO:0060391 9.66 BMP6 TGFB1
30 mesenchymal cell differentiation GO:0048762 9.65 FGFR1 FGFR2
31 salivary gland morphogenesis GO:0007435 9.65 FGFR1 TGFB1
32 lung-associated mesenchyme development GO:0060484 9.64 FGFR1 FGFR2
33 frontal suture morphogenesis GO:0060364 9.6 MSX2 TGFB1
34 orbitofrontal cortex development GO:0021769 9.59 FGFR1 FGFR2
35 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.58 FGF2 FGFR1
36 ventricular zone neuroblast division GO:0021847 9.54 FGFR1 FGFR2
37 positive regulation of phospholipase activity GO:0010518 9.5 FGFR1 FGFR2 FGFR3
38 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.49 FGFR1 FGFR2
39 wound healing GO:0042060 9.35 DCN FGF2 FGFR2 MSX2 TGFB1
40 endochondral bone growth GO:0003416 9.33 FGFR2 FGFR3 MSX2
41 MAPK cascade GO:0000165 9.1 FGF13 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
42 cell differentiation GO:0030154 10.12 BMP6 ERF FGF2 FGFR1 FGFR2 FGFR3
43 negative regulation of transcription by RNA polymerase II GO:0000122 10.1 BMP6 ERF FGFR1 FGFR2 MSX2 TGFB1
44 protein phosphorylation GO:0006468 10.06 FGFR1 FGFR2 FGFR3 RPS6KB2 TGFB1
45 regulation of signaling receptor activity GO:0010469 10 BMP6 FGF13 FGF2 TGFB1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.78 FGFR1 FGFR2 FGFR3 IL11RA
2 growth factor activity GO:0008083 9.71 BMP6 FGF13 FGF2 TGFB1
3 heparin binding GO:0008201 9.67 FGF2 FGFR1 FGFR2
4 protein tyrosine kinase activity GO:0004713 9.67 FGF2 FGFR1 FGFR2 FGFR3
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.63 FGFR1 FGFR2 FGFR3
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.62 FGF2 FGFR1 FGFR2 FGFR3
7 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.46 FGF2 FGFR1 FGFR2 FGFR3
8 receptor-receptor interaction GO:0090722 9.43 FGF2 FGFR1
9 fibroblast growth factor binding GO:0017134 9.43 FGFR1 FGFR2 FGFR3
10 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF2 FGFR1 FGFR2 FGFR3
11 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3
Sources

Sources for Crouzon Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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