CFD1
MCID: CRZ001
MIFTS: 79

Crouzon Syndrome (CFD1) malady

Eye diseases, Bone diseases, Fetal diseases categories

Summaries for Crouzon Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). this early fusion prevents the skull from growing normally and affects the shape of the head and face. 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 craniosynostosis, and has symptoms including high vaulted/narrow palate, external auditory canal atresia/stenosis/agenesis and hearing loss/hypoacusia/deafness. 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 bone, eye and skin, 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:63 Crouzon syndrome is a genetic disorder known as a branchial arch syndrome. Specifically, this syndrome... more...

Description from OMIM:46 123500

Aliases & Classifications for Crouzon Syndrome

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8Disease Ontology, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
crouzon disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

crouzon syndrome 8 9 63 42 21 46 44
craniofacial dysostosis 8 63 21 60
crouzon disease 42 20 22 48
crouzon craniofacial dysostosis 42 21 48
craniofacial dysostosis type 1 42 60
craniofacial dysarthrosis 63 21
craniofacial dysostosis, type 1; cfd1 21
craniofacial dysostosis syndrome 21
crouzon's disease 21
crouzons disease 21
cfd1 42


External Ids:

Disease Ontology8 DOID:2339
MeSH34 D003394
OMIM46 123500
NCIt39 C84653
SNOMED-CT56 28861008
ICD10 via Orphanet26 Q75.1
SNOMED-CT via Orphanet57 28861008
ICD1025 Q75.1

Related Diseases for Crouzon Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Crouzon Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1acanthosis nigricans30.8FGFR3, FGFR2
2craniosynostosis30.4FGFR2, FGFR1, FGFR3, FGF2, MSX2, TWIST1
3jackson-weiss syndrome30.3FGFR2, FGFR1, FGFR3
4achondroplasia30.2MSX2, FGFR3, FGFR2
5thanatophoric dysplasia30.0FGFR3, FGFR2
6acrocephalosyndactylia30.0FGF2, FGFR3, FGFR1, FGFR2
7muenke syndrome30.0TWIST1, FGFR3, FGFR1, FGFR2
8saethre-chotzen syndrome30.0FGFR2, FGFR1, FGFR3, MSX2, TWIST1
9synostosis30.0FGFR2, FGFR1, FGFR3, MSX2, TWIST1
10crouzonodermoskeletal syndrome10.5
11adult syndrome10.3
12craniofacial dysostosis with diaphyseal hyperplasia10.3
13dysostosis10.2
14hypertrichosis10.2
15enlarged parietal foramina10.2
16craniofacial dysostosis arthrogryposis progeroid appearence10.2
17gorlin chaudhry moss syndrome10.2
18patent ductus arteriosus10.1
19hypertension10.1
20intracranial hypertension10.1
21metaphyseal dysplasia10.1
22acrofrontofacionasal dysostosis syndrome10.1
23craniofacial dyssynostosis10.1
24dandy-walker syndrome10.0
25syringomyelia10.0
26exophthalmos10.0
27fetal alcohol syndrome10.0
28bacterial meningitis10.0
29cervicitis10.0
30hydrocephalus10.0
31meningitis10.0
32strabismus10.0
33ventricular septal defect10.0
34craniosynostosis 410.0
35beare-stevenson cutis gyrata syndrome10.0FGFR2
36osteochondroma10.0FGFR3
37osteoglophonic dysplasia10.0FGFR1
38cervical cancer10.0FGFR3
39cleft lip10.0FGFR1
40thyroid cancer10.0FGFR2
41antley-bixler syndrome10.0FGFR2
42myopia 610.0DCN
43sarcoma10.0TWIST1
44infectious mononucleosis10.0FGFR2, FGFR1
45ladd syndrome10.0FGFR2, FGFR3
46rheumatoid arthritis10.0DCN
47ovarian cancer10.0FGFR2, DCN
48endometrial carcinoma10.0FGFR2, DCN
49myoma10.0DCN
50retinoblastoma10.0FGFR3, FGFR2

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



Diseases related to crouzon syndrome

Clinical Features for Crouzon Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

123500

Clinical synopsis from OMIM:

123500

Symptoms:

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

Drugs & Therapeutics for Crouzon Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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Genetic tests related to Crouzon Syndrome:

id Genetic test Affiliating Genes
1 Crouzon Syndrome20 22 FGFR2

Anatomical Context for Crouzon Syndrome

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Crouzon Syndrome:

32
Bone, Eye, Skin, Lung, Cerebellum, Trachea, Brain, Testes

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

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36MGI
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Publications for Crouzon Syndrome

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50PubMed
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Articles related to Crouzon Syndrome:

(show top 50)    (show all 144)
idTitleAuthorsYear
1
A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome. (23913723)
2014
2
Management of Crouzon syndrome in an adult patient. (24378546)
2013
3
Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene. (23808569)
2013
4
Cutaneous features of Crouzon syndrome with acanthosis nigricans. (23571469)
2013
5
The growth of the foramen magnum in Crouzon syndrome. (22872269)
2012
6
Crouzon syndrome: clinico-radiological illustration of a case. (23393627)
2012
7
Crouzon syndrome--A case report. (22623473)
2012
8
Dual midfacial distraction osteogenesis for Crouzon syndrome: long-term follow-up study for relapse and growth. (22374067)
2012
9
Dental agenesis patterns in Crouzon syndrome. (22372307)
2011
10
Crouzon syndrome with acanthosis nigricans: a case-based update. (21136065)
2011
11
A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? (20199409)
2010
12
Dandy-Walker malformation in Crouzon syndrome. (20413808)
2010
13
A rare association of acanthosis nigricans with Crouzon syndrome. (20061739)
2010
14
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes. (20635358)
2010
15
Marathon of eponyms: 3 Crouzon syndrome. (19523096)
2009
16
The value of the maxillo-malar osteotomy in the treatment of Crouzon syndrome with exorbitism. (18724129)
2008
17
Physical and oral characteristics of Crouzon syndrome, Apert syndrome, and Pierre Robin sequence. (18348368)
2008
18
Crouzon syndrome. (16651211)
2006
19
Mutation analysis of Crouzon syndrome in Taiwanese patients. (16470531)
2006
20
Intracranial space, brain, and cerebrospinal fluid volume measurements obtained with the aid of three-dimensional computerized tomography in patients with and without Crouzon syndrome. (16238077)
2005
21
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. (15523492)
2005
22
Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix. (15915098)
2005
23
FGFR2 mutations among Thai children with Crouzon and Apert syndromes. (12544231)
2003
24
A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia. (12186468)
2002
25
Tracheal cartilaginous sleeve in Crouzon syndrome. (12176186)
2002
26
Crouzon syndrome: association with absent pulmonary valve syndrome and severe tracheobronchomalacia. (12422346)
2002
27
Segmental distraction of the midface in a patient with Crouzon syndrome. (12000885)
2002
28
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. (11426459)
2001
29
Monozygotic twins with Crouzon syndrome: concordance for craniosynostosis and discordance for thumb duplication. (10748419)
2000
30
Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). (11173845)
2000
31
Apert syndrome variant with overlapping features of Crouzon syndrome. (11273485)
2000
32
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. (9475591)
1998
33
Case report: a surgical and prosthetic approach to combination syndrome presenting in a patient with craniofacial dysostosis (Crouzon syndrome). (9680879)
1998
34
Re: Metacarpophalangeal analysis in Crouzon syndrome. (9856580)
1998
35
Crouzon syndrome: anomalies not limited to the skull and the face. (9504314)
1997
36
Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2. (9207932)
1997
37
The feet in Crouzon syndrome. (9211121)
1997
38
Metacarpophalangeal analysis in Crouzon syndrome: additional evidence for phenotypic convergence with the acrocephalosyndactyly syndromes. (9375924)
1997
39
Studies of Crouzon syndrome. (8596806)
1996
40
A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene. (7558045)
1995
41
Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome. (7607643)
1995
42
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. (7719344)
1995
43
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. (7581378)
1995
44
Crouzon syndrome: cephalometric analysis and evaluation of pathogenesis. (8068703)
1994
45
Quantitation of craniofacial anomalies in utero: fetal alcohol and Crouzon syndromes and thanatophoric dysplasia. (8418654)
1993
46
Sonographic appearance of craniofacial dysostosis (Crouzon syndrome) in the second trimester. (8246343)
1993
47
Analysis of craniofacial growth in Crouzon syndrome using landmark data. (2373755)
1990
48
Completely cartilaginous trachea in a child with Crouzon syndrome. (6546324)
1984
49
Radiographic hand abnormalities in fifteen cases of Crouzon syndrome. (7166594)
1982
50
Crouzon Syndrome. A clinical and roentgencephalometric study. (6955940)
1981

Genetic Variations for Crouzon Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Crouzon Syndrome:

62 (show all 37)
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 53Reactome, 59Tocris Bioscience, 52R&D Systems, 49PharmGKB, 4Cell Signaling Technology, 12EMD Millipore
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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
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10.2FGFR2
310.1FGFR1
4
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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
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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

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Crouzon Syndrome according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1paclitaxel44 49 1112.6FGFR2
2heparin44 28 11 2413.3DCN
3SU49841110.2FGFR1, FGFR2
4sucrose octasulfate44 1111.1FGF2, FGFR2
5Regorafenib1110.0FGFR1, FGFR2
6su6668449.9FGFR1, FGF2
75-methylthioadenosine449.9FGFR2, FGF2
8sodium chlorate449.9FGF2, FGFR1
9chlorate449.9FGF2, FGFR1
10pd 161570599.8FGFR2, FGFR1, FGFR3
11fiin 1 hydrochloride599.8FGFR2, FGFR1, FGFR3
12su 5402599.8FGFR2, FGFR1, FGFR3
13palifermin44 1110.8FGFR3, FGFR1, FGFR2
14Ponatinib 119.8FGFR3, FGFR1, FGFR2
15iduronic acid44 2410.8DCN, FGF2
16thalidomide44 49 59 1112.7FGF2, FGFR3, FGFR2
17sulfate44 2410.7FGFR3, FGFR2, DCN
18serine449.6FGF2, FGFR3
19suramin44 28 1111.6FGF2, FGFR1, FGFR2
20glycosaminoglycan449.5DCN, FGFR2, FGF2
21phenylalanine449.5FGFR2, FGFR1, FGFR3
22bromodeoxyuridine449.5FGF2, FGFR1, FGFR2
23steroid449.5MSX2, FGFR2, DCN
24glyceraldehyde 3-phosphate449.5DCN, FGFR2, FGFR1
25phosphotyrosine449.4FGFR2, FGFR1, FGFR3
26su5402449.3FGF2, FGFR3, FGFR1, FGFR2
27pd 17307444 5910.3FGFR2, FGFR1, FGFR3, FGF2
28agar449.3FGFR2, FGFR1, FGF2
29lysine449.3DCN, FGFR2, FGFR1, FGFR3
30ribonucleic acid449.2DCN, FGFR2, FGFR1
31paraffin449.2DCN, FGFR2, FGFR3, FGF2
32alginate449.2FGF2, DCN
33chondroitin sulfate44 2410.2DCN, FGFR2, FGFR1, FGF2
34heparan sulfate44 2410.2DCN, FGFR2, FGFR1, FGF2
35polysaccharide449.2FGF2, FGFR1, FGFR2, DCN
36pd 98,059449.2DCN, FGFR2, FGFR1, FGF2
37genistein44 28 59 2 11 2414.1DCN, FGFR2, FGFR1, FGF2
38oligonucleotide449.0DCN, FGFR2, FGFR1, FGFR3, MSX2
39tyrosine448.9FGFR2, FGFR1, FGFR3, TWIST1
40vegf448.8FGF2, FGFR3, FGFR1, FGFR2, DCN
41estrogen448.3TWIST1, FGF2, FGFR1, FGFR2, DCN

GO Terms for genes affiliated with Crouzon Syndrome

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16Gene Ontology
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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

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Sources for Crouzon Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet