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CS
MCID: CRZ001
MIFTS: 70

Crouzon Syndrome (CS)

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal 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 6 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
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 achondroplasia and pfeiffer syndrome, 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

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)

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.

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.

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.

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 142)
# Related Disease Score Top Affiliating Genes
1 achondroplasia 30.3 FGFR1 FGFR2 FGFR3
2 pfeiffer syndrome 30.3 FGFR1 FGFR2 FGFR3
3 exophthalmos 30.3 FGFR2 FGFR3 TGFB1
4 plagiocephaly 30.2 FGFR1 FGFR2 FGFR3
5 jackson-weiss syndrome 30.2 FGFR1 FGFR2 FGFR3
6 apert syndrome 30.1 FGF2 FGFR1 FGFR2 FGFR3
7 synostosis 29.8 FGFR1 FGFR2 FGFR3 MSX2
8 saethre-chotzen syndrome 29.5 FGFR1 FGFR2 FGFR3 MSX2
9 hydrocephalus 29.4 FGFR2 FGFR3 TGFB1
10 thanatophoric dysplasia, type i 29.3 FGF13 FGFR1 FGFR2 FGFR3
11 craniosynostosis 28.2 ERF FGF2 FGFR1 FGFR2 FGFR3 IL11RA
12 crouzon syndrome with acanthosis nigricans 12.5
13 craniofacial dysostosis with diaphyseal hyperplasia 12.3
14 craniofacial dysostosis arthrogryposis progeroid appearence 12.0
15 fontaine progeroid syndrome 12.0
16 cockayne syndrome 11.7
17 cowden syndrome 1 11.7
18 xeroderma pigmentosum, complementation group d 11.5
19 xeroderma pigmentosum, complementation group f 11.5
20 xeroderma pigmentosum, complementation group g 11.5
21 xeroderma pigmentosum, complementation group b 11.5
22 primary pigmented nodular adrenocortical disease 11.3
23 acth-independent macronodular adrenal hyperplasia 11.3
24 kleeblattschaedel 11.3
25 cockayne syndrome a 11.1
26 diabetes mellitus, noninsulin-dependent 11.1
27 myopathy 11.1
28 mucopolysaccharidosis, type vii 11.1
29 cowden disease 11.0
30 craniofacial dyssynostosis 11.0
31 body mass index quantitative trait locus 11 11.0
32 carnitine palmitoyltransferase ii deficiency, infantile 11.0
33 cerebral creatine deficiency syndrome 2 11.0
34 cerebral creatine deficiency syndrome 11.0
35 neuroretinitis 11.0
36 bartonellosis 11.0
37 cat-scratch disease 11.0
38 critical illness polyneuropathy 11.0
39 leber hereditary optic neuropathy 11.0
40 cerebrooculofacioskeletal syndrome 1 11.0
41 crisponi/cold-induced sweating syndrome 1 11.0
42 potocki-shaffer syndrome 10.9
43 mitochondrial disorders 10.8
44 proteus syndrome 10.8
45 childhood apraxia of speech 10.8
46 hemifacial hyperplasia 10.8 FGFR2 FGFR3
47 luteoma 10.7 FGFR2 FGFR3
48 beare-stevenson cutis gyrata syndrome 10.7 FGFR2 FGFR3
49 laryngitis 10.6 FGF2 TGFB1
50 melorheostosis 10.5 BMP6 FGF2

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 48)
# 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 abnormality of the sacrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0005107
31 narrow internal auditory canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0011386
32 intellectual disability 32 occasional (7.5%) HP:0001249
33 seizures 32 HP:0001250
34 sleep apnea 32 HP:0010535
35 mandibular prognathia 32 HP:0000303
36 hearing impairment 59 Occasional (29-5%)
37 visual impairment 32 HP:0000505
38 abnormality of the skull 59 Very frequent (99-80%)
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 cervical spine 32 HP:0003319
43 sagittal craniosynostosis 32 HP:0004442
44 shallow orbits 32 HP:0000586
45 dysgerminoma 32 HP:0100621
46 lambdoidal craniosynostosis 32 HP:0004443
47 craniofacial dysostosis 32 HP:0004439
48 abnormality of the nasopharynx 32 HP:0001739

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 FGFR2 FGFR3 MSX2 TCOF1 FGF2 FGFR1
13 reproductive system MP:0005389 9.91 FGFR1 FGFR2 FGFR3 RPS6KB2 TGFB1 ALX3
14 neoplasm MP:0002006 9.88 FGFR3 RPS6KB2 TGFB1 DCN FGF2 FGFR2
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 TCOF1 TGFB1 ALX3 DCN FGFR2 FGFR3
18 vision/eye MP:0005391 9.28 MSX2 TCOF1 TGFB1 ALX3 DCN FGF2
Sources

Drugs & Therapeutics for Crouzon Syndrome

About this section

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
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
5
Ponatinib Approved, Investigational Phase 2 943319-70-8 24826799
6 tannic acid Approved, Nutraceutical Phase 1, Phase 2
7 Mitogens Phase 2,Phase 1
8 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
9 Hypolipidemic Agents Phase 2,Not Applicable
10 Anticholesteremic Agents Phase 2,Not Applicable
11 Lipid Regulating Agents Phase 2,Not Applicable
12 Antimetabolites Phase 2,Not Applicable
13 Anesthetics Phase 2
14 Antioxidants Phase 2
15 Protective Agents Phase 2
16 Liver Extracts Phase 2,Phase 1
17 PONATINIB  Phase 2
18 Protein Kinase Inhibitors Phase 2
19 Phytosterol Nutraceutical Phase 1, Phase 2,Not Applicable
20 tyrosine Nutraceutical Phase 1, Phase 2
21 Antibodies Phase 1
22 Immunoglobulins Phase 1
23
Menthol Approved 2216-51-5 16666
24
Adenosine Approved, Investigational 58-61-7 60961
25 Analgesics
26 Neurotransmitter Agents
27 Anti-Arrhythmia Agents
28 Vasodilator Agents
29 Peripheral Nervous System Agents

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 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
2 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
3 Dovitinib for Gastric Cancer With FGFR2 Amplification Completed NCT01719549 Phase 2 Dovitinib
4 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
5 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
6 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
7 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
8 ARQ 087 in Subjects With FGFR2 Gene Fusion Positive Inoperable or Advanced Intrahepatic Cholangiocarcinoma Recruiting NCT03230318 Phase 2 ARQ 087
9 A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma Recruiting NCT02150967 Phase 2 BGJ398
10 A Study of TAS-120 in Patients With Advanced Solid Tumors Recruiting NCT02052778 Phase 1, Phase 2 TAS-120
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 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
14 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
15 Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 Fusions Active, not recruiting NCT02265341 Phase 2 Ponatinib Hydrochloride
16 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
17 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
18 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752 Not Applicable
19 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
20 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
21 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420 Not Applicable
22 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
23 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
24 Observing the Relationship of Fibroblast Growth Factor and Fibroblast in Thyroid Eye Disease Recruiting NCT03324022
25 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
26 Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) Recruiting NCT01630460
27 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
28 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
29 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
30 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Not yet recruiting NCT01306994
31 Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions Terminated NCT01307475
32 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425

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

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MalaCards organs/tissues related to Crouzon Syndrome:

41
Bone, Eye, Lung, Skin, Liver, Thyroid, Trachea
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 198)
# Title Authors Year
1
A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation. ( 29067506 )
2018
2
An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome. ( 29848297 )
2018
3
Airway management in a patient with Crouzon syndrome proposed to orthognathic surgery. ( 29848516 )
2018
4
Using Photovoice to Explore Quality of Life Factors of Adults With Crouzon Syndrome. ( 29224414 )
2018
5
Pattern of Closure of Skull Base Synchondroses in Crouzon Syndrome. ( 29024761 )
2018
6
Improvement of Color Vision Following Posterior Cranial Vault Distraction for Crouzon Syndrome. ( 29485554 )
2018
7
Dental consequences of pterygomaxillary dysjunction during fronto-facial monobloc advancement with internal distraction for Crouzon syndrome. ( 29970285 )
2018
8
Glaucoma With Crouzon Syndrome. ( 29557836 )
2018
9
Extensive phenotyping of the orofacial and dental complex in Crouzon syndrome. ( 29223639 )
2018
10
Crouzon Syndrome Associated with Congenital Coarctation of Aorta. ( 29893369 )
2018
11
Postoperative Hearing Loss in a Patient With Crouzon Syndrome: A Case Report. ( 29634565 )
2018
12
Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management. ( 29109840 )
2017
13
Clinical characteristics of Crouzon syndrome. ( 28757702 )
2017
14
Crouzon Syndrome: A Case Series of Craniomaxillofacial Distraction Osteogenesis for Functional Rehabilitation. ( 29268076 )
2017
15
Anesthetic Implications in a Child with Crouzon Syndrome. ( 28298794 )
2017
16
Surgical Correction of Severe Kyphoscoliosis Associated with Crouzon Syndrome with Serious Postoperative Respiratory Problems: A Case Report. ( 29280899 )
2017
17
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. ( 28901406 )
2017
18
Midface Distraction Osteogenesis Using a Modified External Device With Elastic Distraction for Crouzon Syndrome. ( 28060091 )
2017
19
Sleep-related hypermotor epilepsy in a patient with mild Crouzon syndrome. ( 29235060 )
2017
20
Crouzon syndrome - A rare case report. ( 29085273 )
2017
21
Crouzon syndrome with multiple supernumerary teeth. ( 28091449 )
2017
22
Subluxation of Eyes in Crouzon Syndrome. ( 28891490 )
2017
23
The effect of early fusion of the spheno-occipital synchondrosis on midface hypoplasia and obstructive sleep apnea in patients with Crouzon syndrome. ( 28479031 )
2017
24
FGFR2 mutation in a Chinese family with unusual Crouzon syndrome. ( 27803855 )
2016
25
Individualized therapy for treating obstructive sleep apnea in pediatric Crouzon syndrome patients. ( 27424047 )
2016
26
Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome. ( 27430617 )
2016
27
Crouzon syndrome: Virtual planning of surgical treatment by application of internal distractors. ( 27563623 )
2016
28
The Phenotypes of Spheno-Occipital Synchondrosis in Patients With Crouzon Syndrome. ( 27391494 )
2016
29
High Le Fort I osteotomy for correction of mid-face deformity in Crouzon syndrome. ( 27092811 )
2016
30
Crouzon Syndrome: Report in a Family. ( 26894196 )
2016
31
Raised intracranial pressure in Crouzon syndrome: incidence, causes, and management. ( 26613275 )
2016
32
A Novel Technique Using Customized Headgear for Fixation of Rigid External Distraction Device in an Infant With Crouzon Syndrome. ( 26594993 )
2015
33
The C342R Mutation in FGFR2 Causes Crouzon Syndrome With Elbow Deformity. ( 25759925 )
2015
34
Crouzon syndrome: Ophthalmologic complications in an untreated adult patient. ( 26194556 )
2015
35
Crouzon Syndrome: Visual Diagnosis. ( 26283152 )
2015
36
Crouzon Syndrome: Relationship of Eye Movements to Pattern Strabismus. ( 26176876 )
2015
37
Deep Venous Thrombosis in Teen With Crouzon Syndrome Post-Le Fort III Osteotomy With Rigid External Distraction. ( 26595005 )
2015
38
Surgical Treatment of V-pattern Exotropia in Crouzon Syndrome. ( 26098546 )
2015
39
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
40
Monobloc Le Fort III Distraction Osteogenesis for Correction of Severe Fronto-orbital and Midface Hypoplasia in Pediatric Crouzon Syndrome. ( 25650655 )
2015
41
Lumboatrial shunt in a patient with Crouzon syndrome complicated by pseudotumor cerebri. ( 26021731 )
2015
42
Bilateral meningoencephaloceles with cerebrospinal fluid rhinorrhea after facial advancement in the Crouzon syndrome. ( 26302737 )
2015
43
Bilateral congenital cholesteatoma of the temporal bone in Crouzon syndrome. ( 25993748 )
2015
44
S267P Mutation in FGFR2: First Report in a Patient With Crouzon Syndrome. ( 25759927 )
2015
45
Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome. ( 25071892 )
2014
46
Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. ( 25245177 )
2014
47
[Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome]. ( 24928000 )
2014
48
Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome. ( 24741262 )
2014
49
A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome. ( 23913723 )
2014
50
Crouzono-dermo-skeletal syndrome, Crouzon syndrome with acanthosis nigricans syndrome. ( 24476664 )
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
2 FGFR2 p.Ser267Pro VAR_004118 rs121918505
3 FGFR2 p.Phe276Val VAR_004120 rs1057519036Crouzon
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 rs1057519044Crouzon
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 rs1057519043Crouzon
26 FGFR2 p.Pro263Leu VAR_017261 rs779326224
27 FGFR2 p.Cys278Tyr VAR_017263
28 FGFR2 p.Tyr281Cys VAR_017264 rs1057519038Crouzon
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 rs1057519045Crouzon
36 FGFR2 p.Arg678Gly VAR_017281

ClinVar genetic disease variations for Crouzon Syndrome:

6
(show top 50) (show all 174)
# 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.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
40 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
41 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
42 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
43 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh37 Chromosome 10, 123243197: 123243197
44 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh38 Chromosome 10, 121483683: 121483683
45 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh38 Chromosome 10, 121488036: 121488036
46 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh37 Chromosome 10, 123247550: 123247550
47 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh37 Chromosome 10, 123298158: 123298158
48 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh38 Chromosome 10, 121538644: 121538644
49 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh37 Chromosome 10, 123353213: 123353213
50 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh38 Chromosome 10, 121593699: 121593699
Sources

Expression for Crouzon Syndrome

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

Pathways for Crouzon Syndrome

About this section

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

(show all 47)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.77 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
2
Activation of cAMP-Dependent PKA 64
Show member pathways
 13.48 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
3
TGF-Beta Pathway 64
Show member pathways
 13.43 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
4
Akt Signaling 64
Show member pathways
 13.32 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
5
Cytokine Signaling in Immune system 66
Show member pathways
 13.27 FGF2 FGFR1 FGFR2 FGFR3 IL11RA TGFB1
6
CREB Pathway 64
Show member pathways
 13.25 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
7
PAK Pathway 64
Show member pathways
 13.12 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
8
Nanog in Mammalian ESC Pluripotency 64
Show member pathways
 13.05 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
9
PI3K/AKT activation 66
Show member pathways
 13.02 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
10
Phospholipase-C Pathway 64
Show member pathways
 12.96 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
11
PI3K-Akt signaling pathway 37
Show member pathways
 12.9 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
12
p70S6K Signaling 64
Show member pathways
 12.9 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
13
Pathways in cancer 37
12.76 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2 TGFB1
14
Glioma 37
Show member pathways
 12.73 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
15
MAPK signaling pathway 1 37
12.72 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
16
Gastric cancer 37
Show member pathways
 12.72 FGF2 FGFR1 FGFR2 RPS6KB2 TGFB1
17
Downstream signaling events of B Cell Receptor (BCR) 66
Show member pathways
 12.68 FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
18
Ras signaling pathway 37
Show member pathways
 12.64 FGF2 FGFR1 FGFR2 FGFR3
19
Regulation of actin cytoskeleton 37 1
12.57 FGF13 FGF2 FGFR1 FGFR2 FGFR3
20
Negative regulation of FGFR3 signaling 66
Show member pathways
 12.49 FGF2 FGFR1 FGFR2 FGFR3
21
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.44 FGFR1 FGFR2 FGFR3 RPS6KB2
22
NF-KappaB Family Pathway 64
Show member pathways
 12.42 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
23
Development FGFR signaling pathway 22
Show member pathways
 12.39 FGF13 FGF2 FGFR1 FGFR2 FGFR3
24
mTOR signalling 66
Show member pathways
 12.37 FGF2 FGFR1 FGFR2 FGFR3
25
RhoGDI Pathway 64
Show member pathways
 12.33 FGF13 FGF2 FGFR1 FGFR2 FGFR3
26
Signaling by FGFR2 66
Show member pathways
 12.24 FGF2 FGFR1 FGFR2 FGFR3
27
VEGF Signaling Pathway 67 61
Show member pathways
 12.19 FGF2 FGFR1 FGFR2 FGFR3
28
Proteoglycans in cancer 37
12.13 DCN FGF2 FGFR1 RPS6KB2 TGFB1
29
Signaling by FGFR2 in disease 66
Show member pathways
 12.12 FGF2 FGFR1 FGFR2 FGFR3
30
MicroRNAs in cardiomyocyte hypertrophy 1
Show member pathways
 12.08 FGF2 FGFR2 TGFB1
31
Tyrosine Kinases / Adaptors 4
12.08 FGF2 FGFR1 FGFR2 FGFR3
32
AKT Signaling Pathway 67
12.06 FGFR1 FGFR2 FGFR3 IL11RA RPS6KB2
33
Signaling pathways regulating pluripotency of stem cells 37
12.04 FGF2 FGFR1 FGFR2 FGFR3
34
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.99 FGF13 FGF2 TGFB1
35
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 11.98 FGFR1 FGFR2 FGFR3 RPS6KB2
36
TGF-beta signaling pathway (KEGG) 37
11.76 BMP6 DCN RPS6KB2 TGFB1
37
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.74 FGF2 FGFR1 FGFR3
38
Neural Crest Differentiation 1
11.73 FGF2 FGFR1 FGFR2 FGFR3 MSX2
39
Central carbon metabolism in cancer 37
11.65 FGFR1 FGFR2 FGFR3
40
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.51 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
41
Cell adhesion_Plasmin signaling 22
11.5 FGF2 FGFR1 TGFB1
42
Angiogenesis (CST) 4
11.5 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
43
Alzheimers Disease Pathway 64
11.45 FGFR1 FGFR2 FGFR3
44
Vemurafenib Pathway, Pharmacodynamics 61
11.29 FGF2 FGFR1 FGFR2 FGFR3
45
Glypican 1 network 1
11.17 FGF2 FGFR1 TGFB1
46
Angiogenesis (WikiPathways) 1
11.07 FGF2 FGFR2
47
Endochondral Ossification 1
10.83 BMP6 FGF2 FGFR1 FGFR3 TGFB1
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 9.28 BMP6 DCN FGF13 FGF2 FGFR1 FGFR2
2 extracellular matrix GO:0031012 9.26 DCN FGFR2 TGFB1 VWA1

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.98 ALX3 BMP6 MSX2 TGFB1
2 cytokine-mediated signaling pathway GO:0019221 9.98 DCN FGF2 IL11RA TGFB1
3 positive regulation of cell proliferation GO:0008284 9.95 BMP6 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
4 peptidyl-tyrosine phosphorylation GO:0018108 9.88 FGF2 FGFR1 FGFR2 FGFR3
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 negative regulation of signal transduction GO:0009968 9.86 FGFR1 FGFR2 FGFR3
8 skeletal system development GO:0001501 9.86 BMP6 FGFR1 FGFR3 TCOF1
9 BMP signaling pathway GO:0030509 9.85 BMP6 MSX2 TGFB1
10 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.83 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
11 positive regulation of kinase activity GO:0033674 9.82 FGFR1 FGFR2 FGFR3
12 positive regulation of MAP kinase activity GO:0043406 9.81 FGF2 FGFR1 TGFB1
13 positive regulation of epithelial cell proliferation GO:0050679 9.81 BMP6 FGFR2 TGFB1
14 positive regulation of blood vessel endothelial cell migration GO:0043536 9.79 FGF2 FGFR1 TGFB1
15 positive regulation of cell division GO:0051781 9.79 FGF2 FGFR2 TGFB1
16 positive regulation of protein kinase B signaling GO:0051897 9.77 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
17 phosphatidylinositol phosphorylation GO:0046854 9.76 FGF2 FGFR1 FGFR2 FGFR3
18 ureteric bud development GO:0001657 9.75 FGFR1 FGFR2 TGFB1
19 chondrocyte differentiation GO:0002062 9.74 FGFR1 FGFR3 TGFB1
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.71 FGFR1 FGFR2
21 positive regulation of cardiac muscle cell proliferation GO:0060045 9.71 FGF2 FGFR1 FGFR2
22 fibroblast growth factor receptor signaling pathway GO:0008543 9.71 FGF2 FGFR1 FGFR2 FGFR3
23 endochondral ossification GO:0001958 9.7 BMP6 FGFR3
24 outflow tract septum morphogenesis GO:0003148 9.7 FGFR2 MSX2
25 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.7 FGFR2 TGFB1
26 bone morphogenesis GO:0060349 9.7 FGFR2 FGFR3 MSX2
27 positive regulation of vascular endothelial cell proliferation GO:1905564 9.69 FGF2 FGFR1
28 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.69 FGF2 FGFR3 TGFB1
29 hyaluronan catabolic process GO:0030214 9.68 FGF2 TGFB1
30 positive regulation of SMAD protein signal transduction GO:0060391 9.67 BMP6 TGFB1
31 branching involved in salivary gland morphogenesis GO:0060445 9.67 FGFR1 FGFR2
32 mesenchymal cell differentiation GO:0048762 9.66 FGFR1 FGFR2
33 salivary gland morphogenesis GO:0007435 9.66 FGFR1 TGFB1
34 positive regulation of phospholipase C activity GO:0010863 9.65 FGF2 FGFR1
35 lung-associated mesenchyme development GO:0060484 9.65 FGFR1 FGFR2
36 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.62 FGF2 FGFR1 FGFR2 FGFR3
37 frontal suture morphogenesis GO:0060364 9.61 MSX2 TGFB1
38 orbitofrontal cortex development GO:0021769 9.6 FGFR1 FGFR2
39 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.59 FGF2 FGFR1
40 ventricular zone neuroblast division GO:0021847 9.55 FGFR1 FGFR2
41 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.49 FGFR1 FGFR2
42 positive regulation of phospholipase activity GO:0010518 9.43 FGFR1 FGFR2 FGFR3
43 MAPK cascade GO:0000165 9.43 FGF13 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
44 endochondral bone growth GO:0003416 9.33 FGFR2 FGFR3 MSX2
45 wound healing GO:0042060 9.02 DCN FGF2 FGFR2 MSX2 TGFB1
46 multicellular organism development GO:0007275 10.17 ALX3 BMP6 FGF2 FGFR1 FGFR2 FGFR3
47 cell differentiation GO:0030154 10.13 BMP6 ERF FGF2 FGFR1 FGFR2 FGFR3
48 negative regulation of transcription by RNA polymerase II GO:0000122 10.1 BMP6 ERF FGFR1 FGFR2 MSX2 TGFB1
49 protein phosphorylation GO:0006468 10.07 FGFR1 FGFR2 FGFR3 RPS6KB2 TGFB1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.83 FGFR1 FGFR2 FGFR3 IL11RA
2 heparin binding GO:0008201 9.71 FGF2 FGFR1 FGFR2
3 protein tyrosine kinase activity GO:0004713 9.71 FGF2 FGFR1 FGFR2 FGFR3
4 MAP kinase kinase kinase activity GO:0004709 9.67 FGFR1 FGFR2 FGFR3
5 growth factor activity GO:0008083 9.67 BMP6 FGF13 FGF2 TGFB1
6 mitogen-activated protein kinase kinase binding GO:0031434 9.65 FGFR1 FGFR2 FGFR3
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.63 FGFR1 FGFR2 FGFR3
8 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.62 FGF2 FGFR1 FGFR2 FGFR3
9 BMP receptor binding GO:0070700 9.51 BMP6 TGFB1
10 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.46 FGF2 FGFR1 FGFR2 FGFR3
11 receptor-receptor interaction GO:0090722 9.43 FGF2 FGFR1
12 fibroblast growth factor binding GO:0017134 9.43 FGFR1 FGFR2 FGFR3
13 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF2 FGFR1 FGFR2 FGFR3
14 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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