CFD1
MCID: CRZ001
MIFTS: 78

Crouzon Syndrome (CFD1) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases categories
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Summaries for Crouzon Syndrome

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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 based summary: Crouzon Syndrome, also known as crouzon craniofacial dysostosis, is related to acanthosis nigricans and craniosynostosis 4, and has symptoms including skull/cranial anomalies, craniostenosis/craniosynostosis/sutural synostosis and frontal bossing/prominent forehead. An important gene associated with Crouzon Syndrome is FGFR2 (fibroblast growth factor receptor 2), and among its related pathways are FGF signaling pathway and Angiogenesis. The compounds pazopanib and sucrose octasulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and cerebellum, and related mouse phenotypes are renal/urinary system and normal.

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:65 Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome.... more...

Description from OMIM:46 123500

Aliases & Classifications for Crouzon Syndrome

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Crouzon Syndrome, Aliases & Descriptions:

Name: Crouzon Syndrome 30 8 9 65 42 21 46 44
Crouzon Craniofacial Dysostosis 42 21 48 62
Craniofacial Dysostosis 8 65 21 62
Crouzon Disease 42 20 22 48
Craniofacial Dysostosis Type 1 42 62
Craniofacial Dysarthrosis 65 21
 
Craniofacial Dysostosis, Type 1; Cfd1 21
Craniofacial Dysostosis Syndrome 21
Crouzon's Disease 21
Crouzons Disease 21
Cfd1 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:2339
NCIt39 C84653
MeSH34 D003394
SNOMED-CT57 28861008
OMIM46 123500
ICD10 via Orphanet26 Q75.1
ICD1025 Q75.1

Related Diseases for Crouzon Syndrome

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

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1acanthosis nigricans31.4FGFR3, FGFR2
2craniosynostosis 430.7ERF
3thanatophoric dysplasia30.6FGFR3, FGFR2
4achondroplasia30.6MSX2, FGFR2, FGFR3
5strabismus30.5FGFR2, FGFR3
6jackson-weiss syndrome30.3FGFR1, FGFR3, FGFR2
7acrocephalosyndactylia30.0FGFR2, FGFR1, FGFR3, FGF2
8synostosis29.7MSX2, FGFR3, TWIST1, FGFR1, FGFR2
9craniosynostosis29.7FGFR3, FGF2, FGFR1, FGFR2, TWIST1, MSX2
10saethre-chotzen syndrome29.5MSX2, FGFR3, FGFR1, TWIST1, FGFR2
11crouzonodermoskeletal syndrome10.6
12osteochondroma10.5FGFR3
13beare-stevenson cutis gyrata syndrome10.5FGFR2
14antley-bixler syndrome10.5FGFR2
15osteoglophonic dysplasia10.4FGFR1
16craniofacial dysostosis with diaphyseal hyperplasia10.4
17gorlin chaudhry moss syndrome10.3
18ladd syndrome10.3FGFR2, FGFR3
19dysostosis10.3
20infectious mononucleosis10.3FGFR2, FGFR1
21hypertrichosis10.3
22enlarged parietal foramina10.3
23craniofacial dysostosis arthrogryposis progeroid appearence10.3
24craniofacial dyssynostosis10.3
25mental retardation10.3
26osteogenesis imperfecta10.2FGFR3, DCN
27pfeiffer syndrome10.2
28obstructive sleep apnea10.2
29sleep apnea10.2
30syndactyly10.2FGFR2, MSX2, FGFR3
31hypertrophic scars10.1DCN, FGF2
32hypochondroplasia10.1FGFR2, FGFR3, FGFR1
33fgfr-related craniosynostosis syndromes10.1FGFR3, FGFR2, FGFR1
34skeletal dysplasia multi-gene panels10.1FGFR1, FGFR3, FGFR2
35dwarfism10.1FGFR3, FGFR1, FGFR2
36hypertension10.1
37patent ductus arteriosus10.1
38intracranial hypertension10.1
39metaphyseal dysplasia10.1
40acrofrontofacionasal dysostosis syndrome10.1
41plagiocephaly10.1
42hypersomnia10.1
43omphalocele10.1
44keloids10.1DCN, FGF2
45developmental disabilities10.1FGFR2, FGFR1, FGFR3
46kaposi's sarcoma10.1FGF2, FGFR2
47embryonal cancer10.1MSX2, FGFR2, FGFR1
48hydrocephalus10.1
49syringomyelia10.1
50exophthalmos10.1

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



Diseases related to crouzon syndrome

Symptoms for Crouzon Syndrome

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Symptoms by clinical synopsis from OMIM:

123500

Clinical features from OMIM:

123500

Symptoms:

48 (show all 32)
  • skull/cranial anomalies
  • craniostenosis/craniosynostosis/sutural synostosis
  • frontal bossing/prominent forehead
  • high forehead
  • facial dysmorphism
  • autosomal dominant inheritance
  • turricephaly/oxycephaly/acrocephaly
  • brachycephaly/flat occiput
  • hypertelorism
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • strabismus/squint
  • ptosis
  • conductive deafness/hearing loss
  • arnold-chiari anomaly
  • cranial hypertension
  • coloboma of iris
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • beaked nose
  • choanal atresia
  • 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

HPO human phenotypes related to Crouzon Syndrome:

(show all 48)
id Description Frequency HPO Source Accession
1 high forehead hallmark (90%) HP:0000348
2 craniosynostosis hallmark (90%) HP:0001363
3 abnormal facial shape hallmark (90%) HP:0001999
4 frontal bossing hallmark (90%) HP:0002007
5 hypertelorism typical (50%) HP:0000316
6 conductive hearing impairment typical (50%) HP:0000405
7 strabismus typical (50%) HP:0000486
8 ptosis typical (50%) HP:0000508
9 arnold-chiari malformation typical (50%) HP:0002308
10 increased intracranial pressure typical (50%) HP:0002516
11 inflammatory abnormality of the eye typical (50%) HP:0100533
12 abnormality of the palate occasional (7.5%) HP:0000174
13 hydrocephalus occasional (7.5%) HP:0000238
14 atresia of the external auditory canal occasional (7.5%) HP:0000413
15 convex nasal ridge occasional (7.5%) HP:0000444
16 choanal atresia occasional (7.5%) HP:0000453
17 visual impairment occasional (7.5%) HP:0000505
18 iris coloboma occasional (7.5%) HP:0000612
19 optic atrophy occasional (7.5%) HP:0000648
20 acanthosis nigricans occasional (7.5%) HP:0000956
21 melanocytic nevus occasional (7.5%) HP:0000995
22 hypopigmented skin patches occasional (7.5%) HP:0001053
23 migraine occasional (7.5%) HP:0002076
24 respiratory insufficiency occasional (7.5%) HP:0002093
25 abnormality of the sacrum occasional (7.5%) HP:0005107
26 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
27 autosomal dominant inheritance HP:0000006
28 brachycephaly HP:0000248
29 mandibular prognathia HP:0000303
30 hypertelorism HP:0000316
31 hypoplasia of the maxilla HP:0000327
32 conductive hearing impairment HP:0000405
33 atresia of the external auditory canal HP:0000413
34 strabismus HP:0000486
35 visual impairment HP:0000505
36 conjunctivitis HP:0000509
37 shallow orbits HP:0000586
38 optic atrophy HP:0000648
39 dental crowding HP:0000678
40 intellectual disability HP:0001249
41 seizures HP:0001250
42 abnormality of the nasopharynx HP:0001739
43 frontal bossing HP:0002007
44 abnormality of the cervical spine HP:0003319
45 coronal craniosynostosis HP:0004440
46 sagittal craniosynostosis HP:0004442
47 lambdoidal craniosynostosis HP:0004443
48 sleep apnea HP:0010535

Drugs & Therapeutics for Crouzon Syndrome

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Drug clinical trials:

Search ClinicalTrials for Crouzon Syndrome

Search NIH Clinical Center for Crouzon Syndrome

Genetic Tests for Crouzon Syndrome

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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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MalaCards organs/tissues related to Crouzon Syndrome:

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

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MGI Mouse Phenotypes related to Crouzon Syndrome:

36 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1FGFR3, FGFR2, DCN
2MP:00028739.0FGFR3, FGFR2, ERF, MSX2
3MP:00053798.5FGFR1, FGFR2, MSX2, DCN
4MP:00020068.4DCN, FGFR2, FGF2, FGFR3
5MP:00053718.3MSX2, TWIST1, FGFR2, FGFR1, FGFR3
6MP:00107718.3DCN, MSX2, FGFR2, FGFR1, FGFR3
7MP:00053808.3MSX2, TWIST1, ERF, FGFR2, FGFR1
8MP:00053778.1MSX2, FGFR2, FGFR1, FGF2, FGFR3
9MP:00053817.9DCN, MSX2, TWIST1, FGFR2, FGFR1, FGFR3
10MP:00053877.8DCN, MSX2, FGFR2, FGFR1, FGFR3
11MP:00053977.7DCN, MSX2, ERF, FGFR2, FGF2, FGFR3
12MP:00053917.6DCN, MSX2, FGFR2, FGFR1, FGF2, FGFR3
13MP:00053827.6DCN, MSX2, TWIST1, ERF, FGFR2, FGFR1
14MP:00053857.5MSX2, TWIST1, ERF, FGFR2, FGFR1, FGF2
15MP:00053697.5DCN, MSX2, TWIST1, FGFR2, FGFR1, FGF2
16MP:00053787.5DCN, MSX2, TWIST1, ERF, FGFR2, FGFR1
17MP:00036317.2MSX2, TWIST1, ERF, FGFR2, FGFR1, FGF2
18MP:00053847.1DCN, TWIST1, ERF, FGFR2, FGFR1, FGF2
19MP:00053907.1FGFR3, DCN, MSX2, TWIST1, FGFR2, FGFR1
20MP:00053867.1DCN, MSX2, TWIST1, FGFR2, FGFR1, FGF2
21MP:00107686.7DCN, MSX2, TWIST1, ERF, FGFR2, FGFR1

Publications for Crouzon Syndrome

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Articles related to Crouzon Syndrome:

(show top 50)    (show all 147)
idTitleAuthorsYear
1
Crouzon syndrome with bony upper airway obstruction: case report and review literature. (24828762)
2014
2
Three-dimensional precise orientation of bilateral auricular trial prosthesis using a facebow for a young adult with Crouzon syndrome. (25096652)
2014
3
Orbitofrontal monobloc advancement for Crouzon syndrome. (24530078)
2014
4
Identification of causative mutation in a korean family with crouzon syndrome using whole exome sequencing. (25361936)
2014
5
A case of Crouzon syndrome treated by simultaneous bimaxillary distraction. (23886558)
2014
6
Management of Crouzon syndrome in an adult patient. (24378546)
2013
7
Psychosocial conditions in adults with Crouzon syndrome: a follow-up study of 31 Swedish patients. (24328900)
2013
8
Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene. (23808569)
2013
9
Dental agenesis patterns in Crouzon syndrome. (22372307)
2011
10
A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? (20199409)
2010
11
Dandy-Walker malformation in Crouzon syndrome. (20413808)
2010
12
Familial Crouzon syndrome. (22114439)
2010
13
A rare association of acanthosis nigricans with Crouzon syndrome. (20061739)
2010
14
Marathon of eponyms: 3 Crouzon syndrome. (19523096)
2009
15
Early orthodontic management of Crouzon Syndrome: a case report. (23139476)
2009
16
FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient]. (18393251)
2008
17
The value of the maxillo-malar osteotomy in the treatment of Crouzon syndrome with exorbitism. (18724129)
2008
18
Physical and oral characteristics of Crouzon syndrome, Apert syndrome, and Pierre Robin sequence. (18348368)
2008
19
Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGFR)-2 gene. (17850625)
2007
20
Facial diplegia revealing ventriculoperitoneal shunt failure in a patient with Crouzon syndrome. Case report. (17644920)
2007
21
Crouzon syndrome. (16651211)
2006
22
A cloverleaf skull associated with Crouzon syndrome. (16492963)
2006
23
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
24
Monozygotic twins concordant for Crouzon syndrome. (15669095)
2005
25
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. (15523492)
2005
26
Crouzon syndrome: phenotypic signs and symptoms of the postnatally expressed subtype. (15167238)
2004
27
Clinically mild, atypical, and aged craniofacial syndrome is diagnosed as Crouzon syndrome by identification of a point mutation in the fibroblast growth factor receptor 2 gene (FGFR2). (15206560)
2004
28
Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients. (11380921)
2001
29
Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome. (10706360)
2000
30
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. (10696568)
2000
31
Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. (10670894)
2000
32
A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. (10574673)
1999
33
Cephalometric analysis of families with dominantly inherited Crouzon syndrome: an aid to diagnosis in family studies. (9632171)
1998
34
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
35
Case report: a surgical and prosthetic approach to combination syndrome presenting in a patient with craniofacial dysostosis (Crouzon syndrome). (9680879)
1998
36
Studies of Crouzon syndrome. (8596806)
1996
37
Jugular foraminal stenosis in Crouzon syndrome. (9309789)
1996
38
Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. (8755573)
1996
39
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. (7493034)
1995
40
Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome. (7592798)
1995
41
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. (7773284)
1995
42
A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene. (7558045)
1995
43
Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter. (8014970)
1994
44
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
45
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. (7874170)
1994
46
Crouzon syndrome: cephalometric analysis and evaluation of pathogenesis. (8068703)
1994
47
Germinal mosaicism in Crouzon syndrome. A family with three affected siblings of normal parents. (1884515)
1991
48
Patterns of dysmorphology in Crouzon syndrome: an anthropometric study. (3168267)
1988
49
Germinal mosaicism in Crouzon syndrome. (3359675)
1988
50
Radiographic hand abnormalities in fifteen cases of Crouzon syndrome. (7166594)
1982

Variations for Crouzon Syndrome

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

64 (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

Clinvar genetic disease variations for Crouzon Syndrome:

6 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr)single nucleotide variantPathogenicrs121918487GRCh37Chr 10, 123276892: 123276892
2FGFR2NM_000141.4(FGFR2): c.1018T> C (p.Tyr340His)single nucleotide variantPathogenicrs121918489GRCh37Chr 10, 123276899: 123276899
3FGFR2NM_000141.4(FGFR2): c.1061C> G (p.Ser354Cys)single nucleotide variantPathogenicrs121918490GRCh37Chr 10, 123276856: 123276856
4FGFR2NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
5FGFR2NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
6FGFR2NM_000141.4(FGFR2): c.1032G> A (p.Ala344=)single nucleotide variantPathogenicrs121918491GRCh37Chr 10, 123276885: 123276885
7FGFR2NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly)single nucleotide variantPathogenicrs121918492GRCh37Chr 10, 123276886: 123276886
8FGFR2NM_000141.4(FGFR2): c.983A> G (p.Tyr328Cys)single nucleotide variantPathogenicrs121918493GRCh37Chr 10, 123276934: 123276934
9FGFR2NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys)single nucleotide variantPathogenicrs121918494GRCh37Chr 10, 123276877: 123276877
10FGFR2NM_000141.4(FGFR2): c.1026C> G (p.Cys342Trp)single nucleotide variantPathogenicrs121918496GRCh37Chr 10, 123276891: 123276891
11FGFR2NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro)single nucleotide variantPathogenicrs121918497GRCh37Chr 10, 123279566: 123279566
12FGFR2NM_000141.4(FGFR2): c.874A> G (p.Lys292Glu)single nucleotide variantPathogenicrs121918500GRCh37Chr 10, 123279558: 123279558
13FGFR2NM_000141.4(FGFR2): c.868T> C (p.Trp290Arg)single nucleotide variantPathogenicrs121918501GRCh37Chr 10, 123279564: 123279564
14FGFR2NM_000141.4(FGFR2): c.868T> G (p.Trp290Gly)single nucleotide variantPathogenicrs121918501GRCh37Chr 10, 123279564: 123279564
15FGFR2NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu)single nucleotide variantPathogenicrs121918507GRCh37Chr 10, 123258105: 123258105
16FGFR2FGFR2, IVSDS, A-G, +3single nucleotide variantPathogenic
17FGFR2NM_000141.4(FGFR2): c.1009G> C (p.Ala337Pro)single nucleotide variantPathogenicrs387906676GRCh37Chr 10, 123276908: 123276908

Expression for genes affiliated with Crouzon Syndrome

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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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Pathways related to Crouzon Syndrome according to GeneCards/GeneDecks:

(show all 48)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5FGFR2, FGFR1
2
Show member pathways
Angiogenesis37
9.3FGFR2, FGF2
39.1FGFR2, FGFR3, FGFR1
4
Show member pathways
9.1FGFR2, FGFR3, FGFR1
5
Show member pathways
9.1FGFR2, FGFR1, FGFR3
6
Show member pathways
9.1FGFR3, FGFR1, FGFR2
79.1FGFR2, FGFR1, FGFR3
8
Show member pathways
9.1FGFR1, FGFR3, FGFR2
99.0FGFR1, FGF2
10
Show member pathways
Development Flt3 signaling60
9.0FGF2, FGFR1
119.0FGF2, FGFR1
129.0FGFR1, FGF2
13
Show member pathways
8.6FGFR3, FGFR1, FGF2
148.6FGFR1, FGF2, FGFR3
15
Show member pathways
8.3FGF2, FGFR2, FGFR1, FGFR3
16
Show member pathways
8.3FGFR3, FGFR2, FGFR1, FGF2
17
Show member pathways
8.3FGF2, FGFR3, FGFR2, FGFR1
18
Show member pathways
8.3FGFR3, FGF2, FGFR2, FGFR1
19
Show member pathways
8.3FGFR3, FGFR2, FGF2, FGFR1
20
Show member pathways
8.3FGF2, FGFR2, FGFR1, FGFR3
21
Show member pathways
8.3FGFR2, FGFR1, FGFR3, FGF2
22
Show member pathways
8.3FGFR2, FGFR1, FGFR3, FGF2
23
Show member pathways
8.3FGF2, FGFR3, FGFR1, FGFR2
24
Show member pathways
8.3FGFR3, FGFR1, FGFR2, FGF2
25
Show member pathways
8.3FGFR2, FGFR1, FGFR3, FGF2
268.3FGFR3, FGF2, FGFR2, FGFR1
27
Show member pathways
8.3FGFR3, FGF2, FGFR1, FGFR2
28
Show member pathways
8.3FGFR2, FGF2, FGFR1, FGFR3
29
Show member pathways
8.3FGFR3, FGF2, FGFR1, FGFR2
30
Show member pathways
8.3FGFR2, FGF2, FGFR1, FGFR3
31
Show member pathways
8.3FGFR3, FGF2, FGFR1, FGFR2
32
Show member pathways
8.3FGFR3, FGF2, FGFR1, FGFR2
33
Show member pathways
MAPK signaling pathway37
8.3FGFR3, FGF2, FGFR1, FGFR2
34
Show member pathways
8.3FGFR3, FGF2, FGFR2, FGFR1
35
Show member pathways
8.3FGFR3, FGF2, FGFR1, FGFR2
36
Show member pathways
8.3FGFR2, FGFR1, FGF2, FGFR3
378.3FGFR2, FGFR1, FGFR3, FGF2
38
Show member pathways
8.3FGFR3, FGF2, FGFR2, FGFR1
39
Show member pathways
Signaling Pathways in Glioblastoma37
8.3FGF2, FGFR3, FGFR2, FGFR1
40
Show member pathways
8.3FGFR1, FGFR3, FGFR2, FGF2
41
Show member pathways
8.3FGFR1, FGF2, FGFR3, FGFR2
428.3FGFR1, FGF2, FGFR3, FGFR2
438.3FGFR1, FGF2, FGFR3, FGFR2
44
Show member pathways
8.3FGFR1, FGFR3, FGF2, FGFR2
45
Show member pathways
8.3FGFR1, FGFR2, FGFR3, FGF2
468.0DCN, TWIST1, FGFR1, FGF2
477.8FGF2, FGFR1, FGFR2, DCN, FGFR3
487.3FGF2, FGFR3, FGFR1, FGFR2, TWIST1, MSX2

Compounds for genes affiliated with Crouzon Syndrome

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Compounds related to Crouzon Syndrome according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1pazopanib50 1110.7FGFR1, FGFR3
2sucrose octasulfate44 1110.7FGF2, FGFR2
3regorafenib50 1110.7FGFR1, FGFR2
4sulfate44 2410.6FGFR3, FGFR2, DCN
55-methylthioadenosine449.5FGF2, FGFR2
6pd 161570619.5FGFR2, FGFR1, FGFR3
7fiin 1 hydrochloride619.5FGFR2, FGFR1, FGFR3
8su 5402619.5FGFR2, FGFR1, FGFR3
9palifermin44 1110.5FGFR2, FGFR1, FGFR3
10ponatinib50 1110.5FGFR2, FGFR1, FGFR3
11iduronic acid44 2410.5FGF2, DCN
12su6668449.4FGF2, FGFR1
13chlorate449.4FGFR1, FGF2
14sodium chlorate449.4FGFR1, FGF2
15phenylalanine449.4FGFR2, FGFR1, FGFR3
16phosphotyrosine449.3FGFR2, FGFR1, FGFR3
17glyceraldehyde 3-phosphate449.3FGFR1, FGFR2, DCN
18thalidomide44 50 61 1112.3FGFR3, FGF2, FGFR2
19ribonucleic acid449.2DCN, FGFR2, FGFR1
20alginate449.2FGF2, DCN
21glycosaminoglycan449.2DCN, FGFR2, FGF2
22dermatan sulfate449.1DCN, FGF2
23bleomycin44 1110.1FGF2, DCN
24suramin44 28 1111.1FGF2, FGFR1, FGFR2
25bromodeoxyuridine449.0FGFR2, FGFR1, FGF2
26ganciclovir44 1110.0FGF2, FGFR2
27agar449.0FGFR2, FGFR1, FGF2
28lysine449.0DCN, FGFR2, FGFR1, FGFR3
29steroid448.9FGFR1, FGFR2, MSX2, DCN
30glutamate448.8DCN, FGFR2, FGFR1, FGFR3
31paraffin448.8FGFR3, FGF2, FGFR2, DCN
32su5402448.7FGFR3, FGF2, FGFR1, FGFR2
33pd 17307444 619.7FGFR2, FGFR1, FGF2, FGFR3
34cysteine448.7FGFR3, FGFR1, FGFR2, DCN
35chondroitin sulfate44 249.6FGF2, FGFR1, FGFR2, DCN
36heparan sulfate44 249.6DCN, FGFR2, FGFR1, FGF2
37thymidine44 249.6FGF2, FGFR1, FGFR2
38polysaccharide448.6FGF2, FGFR1, FGFR2, DCN
39paclitaxel44 50 1110.6TWIST1, FGFR2, FGFR1, FGF2
40pd 98,059448.6DCN, FGFR2, FGFR1, FGF2
41genistein44 28 61 2 24 1113.6DCN, FGFR2, FGFR1, FGF2
42oligonucleotide448.5FGFR3, FGFR1, FGFR2, MSX2, DCN
43heparin44 28 24 1111.5DCN, FGFR2, FGFR1, FGF2
44retinoic acid44 249.3DCN, FGFR2, FGFR1, FGF2
45vegf448.2DCN, FGFR2, FGFR1, FGF2, FGFR3
46serine448.1DCN, FGFR2, FGFR1, FGF2, FGFR3
47estrogen448.0DCN, TWIST1, FGFR2, FGFR1, FGF2
48tyrosine447.6DCN, TWIST1, FGFR2, FGFR1, FGF2, FGFR3

GO Terms for genes affiliated with Crouzon Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.0FGFR2, FGFR1, FGFR3
2extracellular regionGO:0055767.8DCN, FGFR2, FGFR1, FGF2, FGFR3
3nucleusGO:0056346.6MSX2, TWIST1, ERF, FGFR2, FGFR1, FGF2

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

(show top 50)    (show all 57)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell developmentGO:07030710.1FGFR2, FGFR3
2negative regulation of mitosisGO:04583910.1FGFR2, FGFR3
3bone morphogenesisGO:06034910.1FGFR2, FGFR3
4outflow tract septum morphogenesisGO:00314810.0FGFR2, MSX2
5endochondral bone growthGO:00341610.0FGFR3, MSX2
6fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.9FGFR2, FGFR1
7ventricular zone neuroblast divisionGO:0218479.9FGFR2, FGFR1
8cranial suture morphogenesisGO:0603639.9MSX2, TWIST1
9embryonic cranial skeleton morphogenesisGO:0487019.9TWIST1, FGFR2
10mesenchymal cell differentiationGO:0487629.9FGFR1, FGFR2
11lung-associated mesenchyme developmentGO:0604849.9FGFR1, FGFR2
12odontogenesisGO:0424769.9FGFR2, TWIST1
13branching involved in salivary gland morphogenesisGO:0604459.9FGFR1, FGFR2
14positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.9FGFR1, FGFR3
15skeletal system morphogenesisGO:0487059.8FGFR2, FGFR1
16positive regulation of cell cycleGO:0457879.8FGFR2, FGFR1
17embryonic hindlimb morphogenesisGO:0351169.8TWIST1, MSX2
18midbrain developmentGO:0309019.7FGFR2, FGFR1
19embryonic forelimb morphogenesisGO:0351159.7TWIST1, MSX2
20outer ear morphogenesisGO:0424739.7TWIST1, FGFR1
21positive regulation of mesenchymal cell proliferationGO:0020539.7FGFR1, FGFR2
22ureteric bud developmentGO:0016579.7FGFR1, FGFR2
23negative regulation of epithelial cell proliferationGO:0506809.6FGFR3, FGFR2
24chondrocyte differentiationGO:0020629.6FGFR3, FGFR1
25cellular response to growth factor stimulusGO:0713639.6MSX2, TWIST1
26response to axon injuryGO:0486789.6FGF2, FGFR3
27positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.6FGFR3, FGF2
28positive regulation of phospholipase activityGO:0105189.5FGFR3, FGFR1, FGFR2
29positive regulation of MAPK cascadeGO:0434109.5FGFR2, FGFR1, FGFR3
30peptidyl-tyrosine phosphorylationGO:0181089.5FGFR2, FGFR1, FGFR3
31protein autophosphorylationGO:0467779.5FGFR2, FGFR1, FGFR3
32positive regulation of phospholipase C activityGO:0108639.4FGFR1, FGF2
33organ inductionGO:0017599.4FGF2, FGFR1
34in utero embryonic developmentGO:0017019.3FGFR1, FGFR2, TWIST1
35substantia nigra developmentGO:0217629.3FGF2, FGFR3
36positive regulation of cell divisionGO:0517819.3FGFR2, FGF2
37positive regulation of ERK1 and ERK2 cascadeGO:0703749.3FGFR3, FGF2, FGFR2
38organ morphogenesisGO:0098879.2DCN, FGFR2, FGF2
39positive regulation of osteoblast differentiationGO:0456699.2FGF2, MSX2
40osteoblast differentiationGO:0016499.2MSX2, TWIST1
41positive regulation of cardiac muscle cell proliferationGO:0600459.1FGF2, FGFR1, FGFR2
42phosphatidylinositol-mediated signalingGO:0480158.7FGFR2, FGFR1, FGF2, FGFR3
43insulin receptor signaling pathwayGO:0082868.7FGFR2, FGFR1, FGFR3, FGF2
44fibroblast growth factor receptor signaling pathwayGO:0085438.7FGFR2, FGFR1, FGF2, FGFR3
45Fc-epsilon receptor signaling pathwayGO:0380958.7FGFR2, FGFR3, FGFR1, FGF2
46epidermal growth factor receptor signaling pathwayGO:0071738.7FGF2, FGFR2, FGFR1, FGFR3
47neurotrophin TRK receptor signaling pathwayGO:0480118.7FGF2, FGFR1, FGFR2, FGFR3
48positive regulation of cell proliferationGO:0082848.7FGFR3, FGF2, FGFR2, FGFR1
49innate immune responseGO:0450878.6FGFR1, FGFR3, FGFR2, FGF2
50negative regulation of transcription from RNA polymerase II promoterGO:0001228.2FGFR3, FGFR1, FGFR2, ERF, TWIST1, MSX2

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0009819.6ERF, TWIST1
2fibroblast growth factor-activated receptor activityGO:0050079.1FGFR3, FGFR1, FGFR2
3protein tyrosine kinase activityGO:0047139.0FGFR2, FGFR1, FGFR3
4heparin bindingGO:0082018.4FGF2, FGFR1, FGFR2
5fibroblast growth factor bindingGO:0171348.3FGFR3, FGF2, 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
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36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
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51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
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