CFD1
MCID: CRZ001
MIFTS: 67

Crouzon Syndrome (CFD1) malady

Eye, Bone, Fetal categories

Summaries for Crouzon Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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. the abnormal growth of the bones in the skull causes wide-set, bulging eyes, eyes that do not point in the same direction (strabismus), a beaked nose, and an underdeveloped upper jaw. other features may include dental problems, hearing loss, and an opening in the lip and the roof of the mouth (cleft lip and palate). the severity of these signs and symptoms varies among affected people. people with crouzon syndrome are usually of normal intelligence. crouzon syndrome is caused by mutations in the fgfr2 gene and is inherited in an autosomal dominant fashion. last updated: 3/24/2011

MalaCards: Crouzon Syndrome, also known as craniofacial dysostosis, is related to acanthosis nigricans and jackson-weiss syndrome, and has symptoms including frontal bossing/prominent forehead, hypertelorism and cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia. An important gene associated with Crouzon Syndrome is FGFR2 (fibroblast growth factor receptor 2), and among its related pathways are p70S6K Signaling and TGF-Beta Pathway. The compounds paclitaxel and heparin have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and fetal brain, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Disease Ontology:8 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:21 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.

Wikipedia:64 Crouzon syndrome is a genetic disorder known as a branchial arch syndrome. Specifically, this syndrome... more...

Description from OMIM:47 123500

Aliases & Classifications for Crouzon Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Bone


Characteristics (Orphanet epidemiological data):

49
crouzon disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

crouzon syndrome 8 9 64 43 21 47 45
craniofacial dysostosis 8 64 21 61
crouzon disease 43 20 22 49
crouzon craniofacial dysostosis 43 21 49
craniofacial dysostosis type 1 43 61
craniofacial dysarthrosis 64 21
craniofacial dysostosis, type 1; cfd1 21
craniofacial dysostosis syndrome 21
crouzon's disease 21
crouzons disease 21
cfd1 43


External Ids:

Disease Ontology8 DOID:2339
MeSH35 D003394
OMIM47 123500
NCIt40 C84653
SNOMED-CT57 28861008
ICD10 via Orphanet26 Q75.1
SNOMED-CT via Orphanet58 28861008
ICD1025 Q75.1

Related Diseases for Crouzon Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1acanthosis nigricans30.8FGFR3, FGFR2
2jackson-weiss syndrome30.3FGFR2, FGFR1, FGFR3
3achondroplasia30.2MSX2, FGFR3, FGFR2
4acrocephalosyndactylia30.0FGF2, FGFR3, FGFR1, FGFR2
5thanatophoric dysplasia30.0FGFR3, FGFR2
6skeletal dysplasias30.0FGFR3, FGFR1, FGFR2
7muenke syndrome30.0TWIST1, FGFR3, FGFR1, FGFR2
8saethre-chotzen syndrome30.0FGFR2, FGFR1, FGFR3, MSX2, TWIST1
9synostosis30.0FGFR2, FGFR1, FGFR3, MSX2, TWIST1
10fg syndrome10.7
11n syndrome10.6
12crouzonodermoskeletal syndrome10.5
13craniofacial dysostosis with diaphyseal hyperplasia10.3
14gorlin chaudhry moss syndrome10.3
15adult syndrome10.3
16enlarged parietal foramina10.2
17craniofacial dysostosis arthrogryposis progeroid appearence10.2
18craniofacial dyssynostosis10.2
19mental retardation10.2
20craniofacial dysostosis - arthrogryposis - progeroid appearance10.2
21young syndrome10.2
22sleep apnea10.2
23patent ductus arteriosus10.1
24hypersomnia10.1
25omphalocele10.1
26dandy-walker syndrome10.0
27syringomyelia10.0
28exophthalmos10.0
29fetal alcohol syndrome10.0
30bacterial meningitis10.0
31strabismus10.0
32ventricular septal defect10.0
33char syndrome10.0
34short syndrome10.0
35bent bone dysplasia syndrome10.0
36meningoencephalocele10.0
37pierre robin sequence10.0
38growth hormone deficiency10.0
395q- syndrome10.0
40plagiocephaly10.0
41tracheobronchomalacia10.0
42short stature10.0
43craniosynostosis 510.0
44craniosynostosis 410.0
45beare-stevenson cutis gyrata syndrome10.0FGFR2
46osteochondroma10.0FGFR3
47osteoglophonic dysplasia10.0FGFR1
48cervical cancer10.0FGFR3
49cleft lip10.0FGFR1
50thyroid cancer10.0FGFR2

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



Diseases related to crouzon syndrome

Clinical Features for Crouzon Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

123500

Clinical synopsis from OMIM:

123500

Symptoms:

49 (show all 32)
  • frontal bossing/prominent forehead
  • hypertelorism
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • ptosis
  • autosomal dominant inheritance
  • high vaulted/narrow palate
  • pigmented naevi/naevus pigmentosus/lentigo
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hydrocephaly
  • hearing loss/hypoacusia/deafness
  • cranial hypertension
  • facial dysmorphism
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • brachycephaly/flat occiput
  • strabismus/squint
  • irregular/patchy skin hypopigmentation
  • skull/cranial anomalies
  • facial pain/cephalalgia/migraine
  • coloboma of iris
  • choanal atresia
  • conductive deafness/hearing loss
  • craniostenosis/craniosynostosis/sutural synostosis
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • high forehead
  • arnold-chiari anomaly
  • acanthosis nigricans
  • beaked nose
  • external auditory canal atresia/stenosis/agenesis
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • turricephaly/oxycephaly/acrocephaly
  • sacro-coccyx/sacrum anomaly

Drugs & Therapeutics for Crouzon Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Crouzon Syndrome

Drug clinical trials:

Search ClinicalTrials for Crouzon Syndrome

Search NIH Clinical Center for Crouzon Syndrome

Search CenterWatch for Crouzon Syndrome

Genetic Tests for Crouzon Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Crouzon Syndrome:

id Genetic test Affiliating Genes
1 Crouzon Syndrome20 22 FGFR2

Anatomical Context for Crouzon Syndrome

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Crouzon Syndrome:

33
Brain, Skeletal muscle, Fetal brain, Trachea

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Crouzon Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 BoneRostral Skull Membranous BonesIntramembrenous Osteocytes Affected by disease

Animal Models for Crouzon Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Crouzon Syndrome:

37 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.3MSX2
2MP:000537710.0MSX2, FGFR3
3MP:00107718.6PYGO2, DCN, FGFR2, FGFR1, MSX2
4MP:00053678.5PYGO2, DCN, FGFR2, FGFR1, FGFR3
5MP:00053798.3PYGO2, DCN, FGFR2, FGFR1, MSX2
6MP:00053698.1DCN, FGFR1, FGF2, MSX2, TWIST1
7MP:00053878.0MSX2, FGFR3, FGFR1, FGFR2, DCN, VPREB1
8MP:00053807.9FGFR2, FGFR1, MSX2, ERF, TWIST1
9MP:00053917.8PYGO2, DCN, FGFR2, FGFR1, FGFR3, FGF2
10MP:00053977.7VPREB1, DCN, FGFR2, FGFR3, FGF2, MSX2
11MP:00053857.7FGFR2, FGFR1, FGF2, MSX2, ERF, TWIST1
12MP:00053817.5PYGO2, DCN, FGFR2, FGFR1, FGFR3, MSX2
13MP:00053867.4DCN, FGFR2, FGFR1, FGFR3, FGF2, MSX2
14MP:00053827.2PYGO2, DCN, FGFR2, FGFR1, FGFR3, MSX2
15MP:00053787.2PYGO2, DCN, FGFR2, FGFR1, FGFR3, MSX2
16MP:00036317.1PYGO2, FGFR2, FGFR1, FGFR3, FGF2, MSX2
17MP:00053906.7TWIST1, PYGO2, DCN, FGFR2, FGFR1, FGFR3
18MP:00107686.7PYGO2, DCN, FGFR2, FGFR1, FGFR3, FGF2
19MP:00053846.5PYGO2, VPREB1, DCN, FGFR2, FGFR1, FGFR3

Publications for Crouzon Syndrome

Sources:
51PubMed
See all sources

Articles related to Crouzon Syndrome:

(show top 50)    (show all 155)
idTitleAuthorsYear
1
Crouzon syndrome: relationship of rectus muscle pulley location to pattern strabismus. (24346169)
2014
2
Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene. (23808569)
2013
3
Cutaneous features of Crouzon syndrome with acanthosis nigricans. (23571469)
2013
4
The growth of the foramen magnum in Crouzon syndrome. (22872269)
2012
5
Crouzon syndrome: clinico-radiological illustration of a case. (23393627)
2012
6
Crouzon syndrome: a social stigma. (23060386)
2012
7
Ala344Pro mutation in the FGFR2 gene and related clinical findings in one Chinese family with Crouzon syndrome. (22665975)
2012
8
Long-term surgical cure of severe obstructive sleep apnea in an adult patient with craniofacial dysostosis (Crouzon's syndrome): a case report and literature review. (20740321)
2011
9
Dental agenesis patterns in Crouzon syndrome. (22372307)
2011
10
Crouzon syndrome with acanthosis nigricans: a case-based update. (21136065)
2011
11
Living with Crouzon syndrome: how do young adults with Crouzon syndrome handle their life situation? (20659180)
2011
12
A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? (20199409)
2010
13
Dandy-Walker malformation in Crouzon syndrome. (20413808)
2010
14
Physical and oral characteristics of Crouzon syndrome, Apert syndrome, and Pierre Robin sequence. (18348368)
2008
15
Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGFR)-2 gene. (17850625)
2007
16
A cloverleaf skull associated with Crouzon syndrome. (16492963)
2006
17
Mutation analysis of Crouzon syndrome in Taiwanese patients. (16470531)
2006
18
New osteotomies for midface advancement in patients with Crouzon syndrome. (17003626)
2006
19
Crouzon syndrome: A case report and review of literature. (23120355)
2006
20
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. (15523492)
2005
21
Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix. (15915098)
2005
22
Crouzon syndrome: phenotypic signs and symptoms of the postnatally expressed subtype. (15167238)
2004
23
Crouzonodermoskeletal syndrome. (14969379)
2004
24
A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia. (12186468)
2002
25
Encephalocele as a late complication of cranial vault reconstruction in a patient with Crouzon's syndrome. (12140411)
2002
26
Recurrence of bacterial meningitis in a patient with Crouzon syndrome and pseudomeningocele. (12144091)
2002
27
Tracheal cartilaginous sleeve in Crouzon syndrome. (12176186)
2002
28
Crouzon syndrome: association with absent pulmonary valve syndrome and severe tracheobronchomalacia. (12422346)
2002
29
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. (11426459)
2001
30
Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome. (10706360)
2000
31
Monozygotic twins with Crouzon syndrome: concordance for craniosynostosis and discordance for thumb duplication. (10748419)
2000
32
Case report: a surgical and prosthetic approach to combination syndrome presenting in a patient with craniofacial dysostosis (Crouzon syndrome). (9680879)
1998
33
Re: Metacarpophalangeal analysis in Crouzon syndrome. (9856580)
1998
34
Crouzon syndrome: anomalies not limited to the skull and the face. (9504314)
1997
35
Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2. (9207932)
1997
36
Hand anomalies in Crouzon syndrome. (9060103)
1997
37
First-trimester prenatal diagnosis of Crouzon syndrome. (8650126)
1996
38
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. (8880573)
1996
39
Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. (7674004)
1995
40
Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter. (8014970)
1994
41
Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. (8188211)
1994
42
Crouzon syndrome: cephalometric analysis and evaluation of pathogenesis. (8068703)
1994
43
Quantitation of craniofacial anomalies in utero: fetal alcohol and Crouzon syndromes and thanatophoric dysplasia. (8418654)
1993
44
Crouzon syndrome: quantitative assessment of presenting deformity and surgical results based on CT scans. (8234498)
1993
45
Germinal mosaicism in Crouzon syndrome. A family with three affected siblings of normal parents. (1884515)
1991
46
Analysis of craniofacial growth in Crouzon syndrome using landmark data. (2373755)
1990
47
Patterns of dysmorphology in Crouzon syndrome: an anthropometric study. (3168267)
1988
48
Crouzon syndrome with periapical cemental dysplasia and acanthosis nigricans: the pleiotropic effect of a single gene? (4041575)
1985
49
Completely cartilaginous trachea in a child with Crouzon syndrome. (6546324)
1984
50
Crouzon Syndrome. A clinical and roentgencephalometric study. (6955940)
1981

Genetic Variations for Crouzon Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Crouzon Syndrome:

63 (show all 37)
id Symbol AA change Variation SNP ID
1FGFR2p.Tyr105CysVAR_004112
2FGFR2p.Ser252LeuVAR_004113
3FGFR2p.Ser267ProVAR_004118
4FGFR2p.Phe276ValVAR_004120
5FGFR2p.Cys278PheVAR_004121
6FGFR2p.Gln289ProVAR_004123
7FGFR2p.Trp290ArgVAR_004125
8FGFR2p.Lys292GluVAR_004126
9FGFR2p.Tyr301CysVAR_004127
10FGFR2p.Tyr328CysVAR_004130
11FGFR2p.Asn331IleVAR_004131
12FGFR2p.Gly338GluVAR_004133
13FGFR2p.Tyr340HisVAR_004134
14FGFR2p.Thr341ProVAR_004135
15FGFR2p.Cys342PheVAR_004136
16FGFR2p.Cys342ArgVAR_004137
17FGFR2p.Cys342SerVAR_004138
18FGFR2p.Cys342TyrVAR_004139
19FGFR2p.Ala344GlyVAR_004140
20FGFR2p.Ala344ProVAR_004141
21FGFR2p.Ser347CysVAR_004142
22FGFR2p.Ser351CysVAR_004143
23FGFR2p.Ser354CysVAR_004144
24FGFR2p.Val359PheVAR_004146
25FGFR2p.Gly384ArgVAR_004147
26FGFR2p.Gly338ArgVAR_015011
27FGFR2p.Pro263LeuVAR_017261
28FGFR2p.Cys278TyrVAR_017263
29FGFR2p.Tyr281CysVAR_017264
30FGFR2p.Ile288SerVAR_017265
31FGFR2p.Trp290GlyVAR_017266
32FGFR2p.Ala337ProVAR_017268
33FGFR2p.Cys342TrpVAR_017271
34FGFR2p.Ser354TyrVAR_017272
35FGFR2p.Ala362SerVAR_017273
36FGFR2p.Asn549HisVAR_017276
37FGFR2p.Arg678GlyVAR_017281

Expression for genes affiliated with Crouzon Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Crouzon Syndrome

Search GEO for disease gene expression data for Crouzon Syndrome.

Pathways for genes affiliated with Crouzon Syndrome

Sources:
52QIAGEN, 38NCBI BioSystems Database, 30KEGG, 54Reactome, 60Tocris Bioscience, 53R&D Systems, 50PharmGKB, 4Cell Signaling Technology, 12EMD Millipore
See all sources

Pathways related to Crouzon Syndrome according to GeneCards/GeneDecks:

(show all 41)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2FGFR2
2
Hide members
10.2FGFR2
310.1FGFR1
4
Hide members
9.8FGFR2, FGFR1
5
Hide members
9.7FGF2, FGFR2
69.7FGFR2, FGF2
79.5FGF2, FGFR1
8
Hide members
9.4FGFR3, FGFR1, FGFR2
99.4FGFR2, FGFR1, FGFR3
109.4FGFR3, FGFR1, FGFR2
11
Hide members
9.4FGFR2, FGFR1, FGFR3
12
Hide members
9.4FGFR2, FGFR1, FGFR3
139.2FGF2, FGFR3, FGFR1
14
Hide members
8.9FGFR2, FGFR1, FGFR3, FGF2
15
Hide members
8.9FGFR2, FGFR1, FGFR3, FGF2
16
Hide members
8.9FGF2, FGFR3, FGFR1, FGFR2
17
Hide members
8.9FGFR2, FGFR1, FGFR3, FGF2
18
Hide members
8.9FGFR2, FGFR1, FGFR3, FGF2
198.9FGF2, FGFR3, FGFR1, FGFR2
20
Hide members
8.9FGFR2, FGFR1, FGFR3, FGF2
21
Hide members
8.9FGFR2, FGFR1, FGFR3, FGF2
22
Hide members
8.9FGFR2, FGFR1, FGFR3, FGF2
238.9FGFR2, FGFR1, FGFR3, FGF2
24
Hide members
8.9FGF2, FGFR3, FGFR1, FGFR2
258.9FGF2, FGFR3, FGFR1, FGFR2
268.9FGFR2, FGFR1, FGFR3, FGF2
27
Hide members
8.9FGFR2, FGFR1, FGFR3, FGF2
28
Hide members
8.9FGF2, FGFR3, FGFR1, FGFR2
29
Hide members
8.9FGF2, FGFR3, FGFR1, FGFR2
30
Hide members
8.9FGFR2, FGFR1, FGFR3, FGF2
31
Hide members
8.9FGF2, FGFR3, FGFR1, FGFR2
32
Hide members
8.9FGF2, FGFR3, FGFR1, FGFR2
33
Hide members
8.9FGFR2, FGFR1, FGFR3, FGF2
34
Development FGF-family signaling
Hide members
8.9FGFR2, FGFR1, FGFR3, FGF2
35
Hide members
8.9FGF2, FGFR3, FGFR1, FGFR2
36
Hide members
8.9FGFR2, FGFR1, FGFR3, FGF2
37
Hide members
8.9FGF2, FGFR3, FGFR1, FGFR2
388.9FGF2, FGFR3, FGFR1, FGFR2
398.4DCN, FGFR2, FGFR1, FGFR3, FGF2
408.3DCN, FGFR1, FGF2, TWIST1
417.7TWIST1, MSX2, FGF2, FGFR3, FGFR1, FGFR2

Compounds for genes affiliated with Crouzon Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Crouzon Syndrome according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1paclitaxel45 50 1112.6FGFR2
2heparin45 29 11 2413.3DCN
3SU49841110.2FGFR1, FGFR2
4sucrose octasulfate45 1111.1FGF2, FGFR2
5Regorafenib1110.0FGFR1, FGFR2
6su6668459.9FGFR1, FGF2
75-methylthioadenosine459.9FGFR2, FGF2
8sodium chlorate459.9FGF2, FGFR1
9chlorate459.9FGF2, FGFR1
10pd 161570609.8FGFR2, FGFR1, FGFR3
11fiin 1 hydrochloride609.8FGFR2, FGFR1, FGFR3
12su 5402609.8FGFR2, FGFR1, FGFR3
13palifermin45 1110.8FGFR3, FGFR1, FGFR2
14Ponatinib 119.8FGFR3, FGFR1, FGFR2
15iduronic acid45 2410.8DCN, FGF2
16thalidomide45 50 60 1112.7FGF2, FGFR3, FGFR2
17sulfate45 2410.7FGFR3, FGFR2, DCN
18serine459.6FGF2, FGFR3
19suramin45 29 1111.6FGF2, FGFR1, FGFR2
20glycosaminoglycan459.5DCN, FGFR2, FGF2
21phenylalanine459.5FGFR2, FGFR1, FGFR3
22bromodeoxyuridine459.5FGF2, FGFR1, FGFR2
23steroid459.5MSX2, FGFR2, DCN
24glyceraldehyde 3-phosphate459.5DCN, FGFR2, FGFR1
25phosphotyrosine459.4FGFR2, FGFR1, FGFR3
26su5402459.3FGF2, FGFR3, FGFR1, FGFR2
27pd 17307445 6010.3FGFR2, FGFR1, FGFR3, FGF2
28agar459.3FGFR2, FGFR1, FGF2
29lysine459.3DCN, FGFR2, FGFR1, FGFR3
30ribonucleic acid459.2DCN, FGFR2, FGFR1
31paraffin459.2DCN, FGFR2, FGFR3, FGF2
32alginate459.2FGF2, DCN
33chondroitin sulfate45 2410.2DCN, FGFR2, FGFR1, FGF2
34heparan sulfate45 2410.2DCN, FGFR2, FGFR1, FGF2
35polysaccharide459.2FGF2, FGFR1, FGFR2, DCN
36pd 98,059459.2DCN, FGFR2, FGFR1, FGF2
37genistein45 29 60 2 11 2414.1DCN, FGFR2, FGFR1, FGF2
38oligonucleotide459.0DCN, FGFR2, FGFR1, FGFR3, MSX2
39tyrosine458.9FGFR2, FGFR1, FGFR3, TWIST1
40vegf458.8FGF2, FGFR3, FGFR1, FGFR2, DCN
41estrogen458.3TWIST1, FGF2, FGFR1, FGFR2, DCN

GO Terms for genes affiliated with Crouzon Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Crouzon Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.4FGFR3, FGFR1, FGFR2
2extracellular regionGO:0055767.5FGF2, FGFR3, FGFR1, FGFR2, DCN, VPREB1

Biological processes related to Crouzon Syndrome according to GeneCards/GeneDecks:

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of mitosisGO:04583910.2FGFR2, FGFR3
2fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.2FGFR1, FGFR2
3lens fiber cell developmentGO:07030710.2FGFR2, FGFR3
4ventricular zone neuroblast divisionGO:02184710.2FGFR1, FGFR2
5endochondral bone growthGO:00341610.1MSX2, FGFR3
6mesenchymal cell differentiationGO:04876210.1FGFR2, FGFR1
7outflow tract septum morphogenesisGO:00314810.1FGFR2, MSX2
8positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.1FGFR1, FGFR3
9bone morphogenesisGO:06034910.1FGFR2, FGFR3
10lung-associated mesenchyme developmentGO:06048410.1FGFR2, FGFR1
11branching involved in salivary gland morphogenesisGO:06044510.1FGFR2, FGFR1
12substantia nigra developmentGO:02176210.0FGF2, FGFR3
13skeletal system morphogenesisGO:04870510.0FGFR2, FGFR1
14positive regulation of cell cycleGO:0457879.9FGFR2, FGFR1
15positive regulation of phospholipase C activityGO:0108639.9FGFR1, FGF2
16positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.9FGF2, FGFR3
17positive regulation of phospholipase activityGO:0105189.9FGFR3, FGFR1, FGFR2
18organ inductionGO:0017599.8FGF2, FGFR1
19midbrain developmentGO:0309019.8FGFR2, FGFR1
20peptidyl-tyrosine phosphorylationGO:0181089.8FGFR3, FGFR1, FGFR2
21positive regulation of MAPK cascadeGO:0434109.8FGFR2, FGFR1, FGFR3
22response to axon injuryGO:0486789.8FGFR3, FGF2
23ureteric bud developmentGO:0016579.8FGFR1, FGFR2
24chondrocyte differentiationGO:0020629.7FGFR1, FGFR3
25protein autophosphorylationGO:0467779.7FGFR3, FGFR1, FGFR2
26positive regulation of cardiac muscle cell proliferationGO:0600459.7FGF2, FGFR1, FGFR2
27cranial suture morphogenesisGO:0603639.7MSX2, TWIST1
28positive regulation of ERK1 and ERK2 cascadeGO:0703749.6FGF2, FGFR3, FGFR2
29outer ear morphogenesisGO:0424739.6FGFR1, TWIST1
30embryonic cranial skeleton morphogenesisGO:0487019.6FGFR2, TWIST1
31organ morphogenesisGO:0098879.6FGF2, FGFR2, DCN
32positive regulation of mesenchymal cell proliferationGO:0020539.5FGFR1, FGFR2
33embryonic hindlimb morphogenesisGO:0351169.4MSX2, TWIST1
34phosphatidylinositol-mediated signalingGO:0480159.3FGFR2, FGFR1, FGFR3, FGF2
35insulin receptor signaling pathwayGO:0082869.3FGF2, FGFR3, FGFR1, FGFR2
36fibroblast growth factor receptor signaling pathwayGO:0085439.3FGFR2, FGFR1, FGFR3, FGF2
37Fc-epsilon receptor signaling pathwayGO:0380959.3FGFR2, FGFR1, FGFR3, FGF2
38epidermal growth factor receptor signaling pathwayGO:0071739.3FGFR2, FGFR1, FGFR3, FGF2
39neurotrophin TRK receptor signaling pathwayGO:0480119.3FGF2, FGFR3, FGFR1, FGFR2
40positive regulation of cell proliferationGO:0082849.2FGF2, FGFR3, FGFR1, FGFR2
41embryonic forelimb morphogenesisGO:0351159.2TWIST1, MSX2
42innate immune responseGO:0450879.1FGFR2, FGFR1, FGFR3, FGF2
43in utero embryonic developmentGO:0017018.8PYGO2, FGFR2, FGFR1, TWIST1
44negative regulation of transcription from RNA polymerase II promoterGO:0001228.3FGFR2, FGFR1, FGFR3, MSX2, ERF, TWIST1

Molecular functions related to Crouzon Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:0050079.3FGFR2, FGFR1, FGFR3
2heparin bindingGO:0082019.2FGF2, FGFR1, FGFR2
3protein tyrosine kinase activityGO:0047139.1FGFR3, FGFR1, FGFR2
4fibroblast growth factor bindingGO:0171348.9FGF2, FGFR3, FGFR1, FGFR2

Products for genes affiliated with Crouzon Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Crouzon Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet