MCID: STH001
MIFTS: 67

Saethre-Chotzen Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Bone diseases categories

Aliases & Classifications for Saethre-Chotzen Syndrome

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Saethre-Chotzen Syndrome, Aliases & Descriptions:

Name: Saethre-Chotzen Syndrome 45 9 19 41 20 21 43 22 60
Saethre-Chotzen Syndrome with Eyelid Anomalies 45 10 60
Acrocephaly, Skull Asymmetry, and Mild Syndactyly 41 21
Machado-Joseph Disease 41 60
Chotzen Syndrome 41 21
Acs3 41 21
Scs 41 21
Nigro-Spino-Dentatal Degeneration with Nuclear Ophthalmoplegia 41
Autosomal Dominant Striatonigral Degeneration 41
Dysostosis Craniofacialis with Hypertelorism 21
Azorean Disease of the Nervous System 41
Acrocephalosyndactyly, Type Iii 21
 
Acrocephalo-Syndactyly, Type 3 41
Acrocephalosyndactyly Type Iii 19
Spinocerebellar Ataxia Type 3 41
Acrocephalosyndactyly Type 3 41
Acrocephalosyndactyly Iii 21
Machado Disease 41
Sakati Syndrome 60
Acs Iii 21
Acs 3 41
Sca3 41
Mjd 41


Classifications:



External Ids:

OMIM45 101400
Disease Ontology9 DOID:14768
NCIt38 C75034

Summaries for Saethre-Chotzen Syndrome

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NIH Rare Diseases:41 Saethre-chotzen syndrome is a genetic condition 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 signs and symptoms of saethre-chotzen syndrome vary widely, even among affected individuals in the same family. mutations in the twist1 gene cause saethre-chotzen syndrome. this condition is inherited in an autosomal dominant pattern. in some cases, an affected person inherits the mutation from one affected parent. other cases may result from new mutations in the gene. last updated: 4/22/2009

MalaCards based summary: Saethre-Chotzen Syndrome, also known as saethre-chotzen syndrome with eyelid anomalies, is related to pfeiffer syndrome and craniosynostosis, and has symptoms including autosomal dominant inheritance, cleft palate and narrow palate. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (twist family bHLH transcription factor 1), and among its related pathways are Signaling by FGFR3 mutants and Akt Signaling Pathway. The compounds pazopanib and regorafenib have been mentioned in the context of this disorder. Affiliated tissues include skull, bone and breast, and related mouse phenotypes are normal and embryogenesis.

Disease Ontology:9 An acrocephalosyndactylia that has material basis in a genetic mutation in the twist1 gene which results in premature fusion located in skull.

Genetics Home Reference:21 Saethre-Chotzen syndrome is a genetic condition 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.

Description from OMIM:45 101400

GeneReviews summary for scs

Related Diseases for Saethre-Chotzen Syndrome

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Diseases in the Saethre-Chotzen Syndrome family:

Saethre-Chotzen Syndrome, Fgfr2-Related

Diseases related to Saethre-Chotzen Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 171)
idRelated DiseaseScoreTop Affiliating Genes
1pfeiffer syndrome31.2FGFR2, FGFR1
2craniosynostosis30.9FGFR3, RUNX2, FGFR1, TWIST1, FGFR2, MSX2
3jackson-weiss syndrome30.8FGFR3, FGFR1, FGFR2
4crouzon syndrome30.6FGFR2, FGFR3, FGFR1, MSX2
5synostosis30.4TWIST1, MSX2, FGFR2, FGFR1, FGFR3
6marchiafava bignami disease30.2BGLAP, RUNX2
7colorectal cancer29.7FGFR3, FGFR2, CASP2, FGFR1
8melanoma29.6FGFR3, FGFR1, FGFR2, CASP2
9breast cancer29.6FGFR1, FGFR3, MSX2, CBL, FGFR2, TWIST1
10spinocerebellar ataxia11.1
11neuronitis10.7
12spasticity10.7
13sc phocomelia syndrome10.6
14phocomelia10.6
15roberts syndrome10.6
16cerebellar ataxia10.6
17neuropathy10.6
18scrapie10.6
19saethre-chotzen syndrome, fgfr2-related10.6
20dystonia10.6
21autonomic dysfunction10.6
22multiple system atrophy10.5
23machado-joseph disease type 110.5
24machado-joseph disease type 310.5
25machado-joseph disease type 210.5
26beare-stevenson cutis gyrata syndrome10.5FGFR2
27robinow-sorauf syndrome10.5
28cervicitis10.5
29intracranial hypertension10.5
30craniosynostosis, syndromic10.5
31antley-bixler syndrome10.5FGFR2
32striatonigral degeneration10.5
33osteoglophonic dysplasia10.5FGFR1
34osteochondroma10.5FGFR3
35spinocerebellar ataxia 210.4
36hereditary spastic paraplegia10.4
37olivopontocerebellar atrophy10.4
38cerebritis10.4
39rem sleep behavior disorder10.4
40paraplegia10.4
41peripheral neuropathy10.4
42sleep disorder10.4
43dysphagia10.4
44myoclonus10.4
45spinocerebellar ataxia x-linked type 310.4
46thanatophoric dysplasia, type i10.4FGFR3, FGFR2
47sickle cell anemia10.4
48pleuropneumonia10.4
49ladd syndrome10.4FGFR2, FGFR3
50strabismus10.4FGFR2, FGFR3

Graphical network of the top 20 diseases related to Saethre-Chotzen Syndrome:



Diseases related to saethre-chotzen syndrome

Symptoms for Saethre-Chotzen Syndrome

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Symptoms by clinical synopsis from OMIM:

101400

Clinical features from OMIM:

101400

HPO human phenotypes related to Saethre-Chotzen Syndrome:

(show all 45)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 cleft palate HP:0000175
3 narrow palate HP:0000189
4 brachycephaly HP:0000248
5 oxycephaly HP:0000263
6 delayed cranial suture closure HP:0000270
7 malar flattening HP:0000272
8 low anterior hairline HP:0000294
9 hypertelorism HP:0000316
10 facial asymmetry HP:0000324
11 hypoplasia of the maxilla HP:0000327
12 high forehead HP:0000348
13 hearing impairment HP:0000365
14 low-set ears HP:0000369
15 convex nasal ridge HP:0000444
16 narrow nose HP:0000460
17 strabismus HP:0000486
18 ptosis HP:0000508
19 buphthalmos HP:0000557
20 shallow orbits HP:0000586
21 abnormality of the nasolacrimal system HP:0000614
22 brachydactyly syndrome HP:0001156
23 plagiocephaly HP:0001357
24 toe syndactyly HP:0001770
25 hallux valgus HP:0001822
26 intellectual disability, moderate HP:0002342
27 malformation of the heart and great vessels HP:0002564
28 abnormality of pelvic girdle bone morphology HP:0002644
29 parietal foramina HP:0002697
30 radioulnar synostosis HP:0002974
31 breast carcinoma HP:0003002
32 long nose HP:0003189
33 variable expressivity HP:0003828
34 clinodactyly of the 5th finger HP:0004209
35 short stature HP:0004322
36 flat forehead HP:0004425
37 coronal craniosynostosis HP:0004440
38 lambdoidal craniosynostosis HP:0004443
39 microtia HP:0008551
40 prominent crus of helix HP:0009899
41 partial duplication of the distal phalanx of the 2nd finger HP:0009951
42 partial duplication of the distal phalanx of the 3rd finger HP:0009968
43 absent first metatarsal HP:0010104
44 cleft of chin HP:0011323
45 flat face HP:0012368

Drugs & Therapeutics for Saethre-Chotzen Syndrome

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Drug clinical trials:

Search ClinicalTrials for Saethre-Chotzen Syndrome

Search NIH Clinical Center for Saethre-Chotzen Syndrome

Genetic Tests for Saethre-Chotzen Syndrome

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Genetic tests related to Saethre-Chotzen Syndrome:

id Genetic test Affiliating Genes
1 Saethre-Chotzen Syndrome20 22 TWIST1

Anatomical Context for Saethre-Chotzen Syndrome

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MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

31
Bone, Breast, Heart, Neutrophil

FMA organs/tissues related to Saethre-Chotzen Syndrome:

14
Skull

Animal Models for Saethre-Chotzen Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

35 (show all 23)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.9TWIST2, HAND2, MSX2, FGFR3, FGFR2
2MP:00053808.5FGFR1, MSX2, HAND2, TWIST1, FGFR2
3MP:00030128.3FGFR3, HAND2, RUNX2, FGFR2, FGFR1
4MP:00053778.1TWIST2, HAND2, FGFR3, FGFR1, MSX2, FGFR2
5MP:00053708.0CBL, TWIST2, HAND2, FGFR2, RUNX2
6MP:00053918.0FGFR3, RUNX2, MSX2, FGFR1, TWIST2, FGFR2
7MP:00053897.9FGFR3, FGFR2, CASP2, CBL, RUNX2
8MP:00053887.9RUNX2, CBL, FGFR2, FGFR3, TWIST2
9MP:00053867.7CBL, FGFR2, FGFR3, FGFR1, TWIST1, TWIST2
10MP:00053817.6FGFR3, FGFR1, FGFR2, TWIST1, TWIST2, MSX2
11MP:00107717.5FGFR3, FGFR1, FGFR2, TWIST2, MSX2, CBL
12MP:00036317.4FGFR3, FGFR1, FGFR2, TWIST1, CASP2, MSX2
13MP:00053697.3FGFR2, HAND2, FGFR1, TWIST1, TWIST2, MSX2
14MP:00053797.3RUNX2, CBL, MSX2, CASP2, TWIST2, FGFR2
15MP:00053857.2MSX2, HAND2, CBL, RUNX2, TWIST2, TWIST1
16MP:00053717.0CBL, FGFR3, FGFR1, FGFR2, TWIST1, TWIST2
17MP:00053827.0RUNX2, FGFR3, FGFR1, FGFR2, HAND2, CBL
18MP:00053907.0RUNX2, FGFR3, FGFR1, MSX2, HAND2, CBL
19MP:00053846.7HAND2, FGFR3, CASP2, RUNX2, FGFR1, FGFR2
20MP:00053976.6RUNX2, HAND2, CBL, MSX2, FGFR2, ACSL3
21MP:00053786.4TWIST2, RUNX2, CBL, MSX2, ACSL3, TWIST1
22MP:00107686.4CBL, HAND2, RUNX2, MSX2, CASP2, TWIST2
23MP:00053876.2FGFR3, RUNX2, HAND2, CBL, MSX2, ACSL3

Publications for Saethre-Chotzen Syndrome

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Articles related to Saethre-Chotzen Syndrome:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report. (25118508)
2014
2
Prenatal sonographic diagnosis of familial Saethre-Chotzen syndrome. (21357567)
2011
3
Audiologic findings in Saethre-Chotzen syndrome. (21532428)
2011
4
Saethre-Chotzen syndrome: a case report. (19860490)
2010
5
Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer. (19025794)
2009
6
The frequency of palatal anomalies in Saethre-Chotzen syndrome. (19642760)
2009
7
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. (19373776)
2009
8
Saethre-Chotzen syndrome and anesthesia. (18950351)
2008
9
Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter. (18019370)
2007
10
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. (16251895)
2006
11
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma. (17074596)
2006
12
Down-regulation of ubiquitin ligase Cbl induced by twist haploinsufficiency in Saethre-Chotzen syndrome results in increased PI3K/Akt signaling and osteoblast proliferation. (17003487)
2006
13
Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome. (15802514)
2005
14
Saethre-Chotzen syndrome: a case report. (16503569)
2005
15
In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome. (15781003)
2005
16
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations. (15151448)
2004
17
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. (12612814)
2003
18
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. (14513358)
2003
19
A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation. (11772178)
2002
20
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. (11977182)
2002
21
Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation. (11854168)
2002
22
Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. (12221714)
2002
23
Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene. (11746028)
2001
24
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. (11248247)
2001
25
Dental findings in Saethre-Chotzen syndrome (acrocephalosyndactyly type III): report of case. (9617456)
1998
26
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. (9585583)
1998
27
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. (9580658)
1998
28
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. (8988166)
1997
29
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. (8988167)
1997
30
Translocation breakpoint maps 5 kb 3-prime from TWIST in a patient affected with Saethre-Chotzen syndrome. (9215678)
1997
31
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. (8723106)
1996
32
Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study. (9118134)
1996
33
Familial Saethre-Chotzen syndrome with or without polydactyly of the toe. (7793794)
1995
34
Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. (7783164)
1995
35
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
36
Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient. (7977380)
1994
37
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. (8128964)
1994
38
Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. (8266989)
1993
39
Saethre-Chotzen syndrome with trigonocephaly. (1481819)
1992
40
Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? (2769726)
1989
41
Parietal foramina in the Saethre-Chotzen syndrome. (4078875)
1985
42
Pfeiffer syndrome or Saethre-Chotzen syndrome? (4087491)
1985
43
The concurrence of Saethre-Chotzen syndrome and malignancy in a family with in vitro immune dysfunction. (6093987)
1984
44
Parietal foramina in Saethre-Chotzen syndrome. (6502651)
1984
45
The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family. (7450776)
1980
46
Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations. (925822)
1977
47
Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia. (862213)
1977
48
Cephalic malformations in Saethre-Chotzen syndrome. Acrocephalosyndactyly type III. (981618)
1976
49
The Saethre-Chotzen syndrome. (1227525)
1975
50
The Saethre-Chotzen syndrome. (4643612)
1972

Variations for Saethre-Chotzen Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Saethre-Chotzen Syndrome:

62
id Symbol AA change Variation ID SNP ID
1TWIST1p.Gln119ProVAR_004495
2TWIST1p.Leu131ProVAR_004496
3TWIST1p.Ile156ValVAR_015219

Clinvar genetic disease variations for Saethre-Chotzen Syndrome:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2FGFR2, VAL-VAL DELdeletionPathogenic
2FGFR3NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg)single nucleotide variantPathogenicrs4647924GRCh37Chr 4, 1803571: 1803571
3TWIST1NM_000474.3(TWIST1): c.308dupA (p.Tyr103Terfs)duplicationPathogenicrs121909186GRCh37Chr 7, 19156636: 19156637
4TWIST1NM_000474.3(TWIST1): c.356A> C (p.Gln119Pro)single nucleotide variantPathogenicrs104894057GRCh37Chr 7, 19156589: 19156589
5TWIST1NM_000474.3(TWIST1): c.309C> A (p.Tyr103Ter)single nucleotide variantPathogenicrs104894054GRCh37Chr 7, 19156636: 19156636
6TWIST1NM_000474.3(TWIST1): c.368C> A (p.Ser123Ter)single nucleotide variantPathogenicrs121909187GRCh37Chr 7, 19156577: 19156577
7TWIST1NM_000474.3(TWIST1): c.376G> T (p.Glu126Ter)single nucleotide variantPathogenicrs121909188GRCh37Chr 7, 19156569: 19156569
8TWIST1NM_000474.3(TWIST1): c.392T> C (p.Leu131Pro)single nucleotide variantPathogenicrs121909189GRCh37Chr 7, 19156553: 19156553
9TWIST1TWIST1, 21-BP DUPduplicationPathogenic
10TWIST1NM_000474.3(TWIST1): c.541G> T (p.Glu181Ter)single nucleotide variantPathogenicrs104894058GRCh37Chr 7, 19156404: 19156404
11TWIST1NM_000474.3(TWIST1): c.466A> G (p.Ile156Val)single nucleotide variantPathogenicrs104894059GRCh37Chr 7, 19156479: 19156479

Expression for genes affiliated with Saethre-Chotzen Syndrome

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Search GEO for disease gene expression data for Saethre-Chotzen Syndrome.

Pathways for genes affiliated with Saethre-Chotzen Syndrome

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Pathways related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8FGFR1, FGFR3
29.5FGFR3, FGFR1, FGFR2
39.5FGFR3, FGFR1, FGFR2
4
Show member pathways
9.5FGFR3, FGFR1, FGFR2
59.5FGFR3, FGFR1, FGFR2
69.5FGFR1, FGFR2, FGFR3
7
Show member pathways
9.5FGFR1, FGFR2, FGFR3
8
Show member pathways
9.5FGFR1, FGFR3, FGFR2
9
Show member pathways
9.5FGFR2, FGFR1, FGFR3
10
Show member pathways
9.5FGFR2, FGFR1, FGFR3
11
Show member pathways
9.5FGFR3, FGFR2, FGFR1
12
Show member pathways
9.5FGFR2, FGFR1, FGFR3
13
Show member pathways
9.5FGFR3, FGFR2, FGFR1
14
Show member pathways
9.5FGFR3, FGFR2, FGFR1
15
Show member pathways
9.5FGFR3, FGFR2, FGFR1
16
Show member pathways
9.5FGFR2, FGFR1, FGFR3
17
Show member pathways
9.5FGFR2, FGFR1, FGFR3
189.3BGLAP, RUNX2
199.3BGLAP, RUNX2
209.3BGLAP, RUNX2
219.3BGLAP, RUNX2
229.3FGFR2, FGFR3, CBL
23
Show member pathways
9.2FGFR3, HAND2, FGFR2, FGFR1
249.0RUNX2, BGLAP, TWIST1
25
Show member pathways
9.0FGFR3, FGFR1, FGFR2, CASP2
26
Show member pathways
9.0FGFR1, FGFR2, FGFR3, CASP2
27
Show member pathways
MAPK signaling pathway36
9.0FGFR2, CASP2, FGFR3, FGFR1
288.9FGFR3, FGFR1, RUNX2
298.9TWIST1, FGFR2, FGFR1, FGFR3, MSX2
308.9FGFR3, FGFR1, CBL, FGFR2
318.9FGFR3, FGFR1, FGFR2, CBL
32
Show member pathways
8.9FGFR3, FGFR2, FGFR1, CBL
33
Show member pathways
8.9FGFR3, CBL, FGFR1, FGFR2
34
Show member pathways
8.9FGFR3, CBL, FGFR2, FGFR1
35
Show member pathways
Signaling Pathways in Glioblastoma36
8.9CBL, FGFR2, FGFR1, FGFR3
36
Show member pathways
8.9FGFR3, CBL, FGFR2, FGFR1
37
Show member pathways
8.9FGFR3, CBL, FGFR2, FGFR1
38
Show member pathways
8.9CBL, FGFR2, FGFR1, FGFR3
398.7CBL, TWIST2, TWIST1, FGFR1
40
Show member pathways
8.3FGFR1, CASP2, CBL, FGFR3, FGFR2
41
Show member pathways
8.3FGFR1, CASP2, FGFR2, FGFR3, CBL
42
Show member pathways
8.3FGFR1, FGFR2, CASP2, CBL, FGFR3
438.0CBL, FGFR2, BGLAP, RUNX2, FGFR1

Compounds for genes affiliated with Saethre-Chotzen Syndrome

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Compounds related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

(show all 44)
idCompoundScoreTop Affiliating Genes
1pazopanib49 1211.1FGFR3, FGFR1
2regorafenib49 1211.1FGFR1, FGFR2
3su 5402599.9FGFR3, FGFR2, FGFR1
4pd 161570599.9FGFR2, FGFR1, FGFR3
5fiin 1 hydrochloride599.9FGFR2, FGFR1, FGFR3
6su5402439.9FGFR2, FGFR1, FGFR3
7pd 17307443 5910.9FGFR3, FGFR1, FGFR2
8palifermin43 1210.9FGFR2, FGFR1, FGFR3
9ponatinib49 1210.9FGFR3, FGFR1, FGFR2
10alizarin439.6BGLAP, RUNX2
11guanine43 24 1211.6CBL, FGFR2, FGFR3
12titanium439.5BGLAP, RUNX2
13alendronate43 49 1211.5BGLAP, RUNX2
14imatinib43 49 1211.5CBL, FGFR1, FGFR3
15doxorubicin43 49 1211.4FGFR3, FGFR2, CASP2
16paclitaxel43 49 1211.4FGFR1, FGFR2, TWIST1, CASP2
17paraffin439.3FGFR3, FGFR2, CASP2, BGLAP
18phenylalanine439.3CBL, FGFR2, FGFR1, FGFR3
19phosphotyrosine439.2CBL, FGFR2, FGFR1, FGFR3
20testosterone43 59 24 1212.2FGFR1, FGFR2, CASP2, BGLAP
21lysine439.2FGFR3, FGFR1, FGFR2, CBL
22vitamin d439.1FGFR2, BGLAP, RUNX2
23sb 20358043 5910.0FGFR1, BGLAP, RUNX2
24glutamate439.0CBL, FGFR2, FGFR1, FGFR3
25ascorbic acid43 2410.0RUNX2, BGLAP, CASP2
26cysteine439.0BGLAP, CASP2, FGFR2, FGFR1, FGFR3
27histamine43 28 2411.0FGFR1, CBL, BGLAP
28ribonucleic acid438.8RUNX2, CASP2, FGFR2, FGFR1
29Adenosine triphosphate24 129.8CBL, ACSL3, FGFR2, FGFR3
30threonine438.7CBL, CASP2, FGFR2, FGFR1, FGFR3
31estrogen438.7RUNX2, BGLAP, TWIST1, FGFR2, FGFR1
32pd 98,059438.7RUNX2, FGFR2, FGFR1
33h2o2438.7BGLAP, CBL, CASP2, FGFR2, FGFR1
34vegf438.6RUNX2, BGLAP, FGFR2, FGFR1, FGFR3
35nitric oxide43 24 1210.6RUNX2, CASP2, FGFR2, FGFR1
36phosphatidylinositol438.6RUNX2, CBL, FGFR2, FGFR1
37pyrophosphate43 249.5RUNX2, CBL, ACSL3
38steroid438.5RUNX2, MSX2, CASP2, FGFR2, FGFR1
39oligonucleotide438.2RUNX2, MSX2, CASP2, FGFR2, FGFR1, FGFR3
40lipid437.9RUNX2, CBL, CASP2, FGFR2, FGFR1, FGFR3
41retinoic acid43 248.9RUNX2, BGLAP, CBL, CASP2, FGFR2, FGFR1
42tyrosine437.9RUNX2, HAND2, CBL, TWIST1, FGFR2, FGFR1
43calcium43 49 24 1210.7RUNX2, BGLAP, CBL, MSX2, FGFR2, FGFR1
44serine437.6RUNX2, BGLAP, CBL, CASP2, FGFR2, FGFR1

GO Terms for genes affiliated with Saethre-Chotzen Syndrome

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Cellular components related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:00160239.5FGFR3, FGFR1, FGFR2
2transcription factor complexGO:00056678.4TWIST2, MSX2, HAND2, RUNX2
3nucleusGO:00056346.1RUNX2, CBL, MSX2, CASP2, TWIST2, TWIST1

Biological processes related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 60)
idNameGO IDScoreTop Affiliating Genes
1cardiac neural crest cell migration involved in outflow tract morphogenesisGO:000325310.3HAND2, TWIST1
2lens fiber cell developmentGO:007030710.3FGFR2, FGFR3
3positive regulation of transcription regulatory region DNA bindingGO:0200067910.3HAND2, TWIST1
4cranial suture morphogenesisGO:006036310.3MSX2, TWIST1
5negative regulation of mitosisGO:004583910.3FGFR2, FGFR3
6endochondral bone growthGO:000341610.2MSX2, FGFR3
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.2FGFR1, FGFR2
8ventricular zone neuroblast divisionGO:002184710.2FGFR2, FGFR1
9outflow tract septum morphogenesisGO:000314810.2MSX2, FGFR2
10mesenchymal cell differentiationGO:004876210.2FGFR1, FGFR2
11outer ear morphogenesisGO:004247310.2TWIST1, FGFR1
12positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.2FGFR1, FGFR3
13lung-associated mesenchyme developmentGO:006048410.1FGFR1, FGFR2
14bone morphogenesisGO:006034910.1FGFR2, FGFR3
15branching involved in salivary gland morphogenesisGO:006044510.1FGFR2, FGFR1
16regulation of bone mineralizationGO:003050010.1TWIST1, BGLAP
17positive regulation of cardiac muscle cell proliferationGO:006004510.0FGFR1, FGFR2
18odontogenesisGO:004247610.0BGLAP, TWIST1, FGFR2
19positive regulation of phospholipase activityGO:00105189.9FGFR3, FGFR1, FGFR2
20cellular response to growth factor stimulusGO:00713639.9BGLAP, MSX2, TWIST1
21skeletal system morphogenesisGO:00487059.9FGFR1, FGFR2
22positive regulation of MAPK cascadeGO:00434109.9FGFR3, FGFR1, FGFR2
23peptidyl-tyrosine phosphorylationGO:00181089.9FGFR2, FGFR1, FGFR3
24negative regulation of osteoblast differentiationGO:00456689.9HAND2, TWIST2, TWIST1
25positive regulation of cell cycleGO:00457879.9FGFR2, FGFR1
26negative regulation of DNA bindingGO:00433929.8TWIST2, HAND2
27bone mineralizationGO:00302829.8FGFR2, BGLAP
28phosphatidylinositol-mediated signalingGO:00480159.8FGFR3, FGFR1, FGFR2
29insulin receptor signaling pathwayGO:00082869.8FGFR2, FGFR1, FGFR3
30protein autophosphorylationGO:00467779.8FGFR3, FGFR1, FGFR2
31regulation of fibroblast growth factor receptor signaling pathwayGO:00400369.7RUNX2, FGFR2
32skeletal system developmentGO:00015019.7FGFR3, FGFR1, BGLAP
33Fc-epsilon receptor signaling pathwayGO:00380959.7FGFR3, FGFR1, FGFR2
34negative regulation of tumor necrosis factor productionGO:00327209.7TWIST1, TWIST2
35angiogenesisGO:00015259.6HAND2, FGFR2, FGFR1
36chondrocyte developmentGO:00020639.6RUNX2, MSX2
37in utero embryonic developmentGO:00017019.6FGFR1, FGFR2, TWIST1, HAND2
38embryonic hindlimb morphogenesisGO:00351169.6TWIST1, MSX2
39negative regulation of smoothened signaling pathwayGO:00458799.6FGFR3, RUNX2
40embryonic forelimb morphogenesisGO:00351159.5TWIST1, MSX2, RUNX2
41osteoblast developmentGO:00020769.4MSX2, BGLAP, RUNX2
42neurotrophin TRK receptor signaling pathwayGO:00480119.4CASP2, FGFR2, FGFR1, FGFR3
43endochondral ossificationGO:00019589.4RUNX2, FGFR3
44fibroblast growth factor receptor signaling pathwayGO:00085439.3FGFR3, FGFR1, FGFR2, CBL
45epidermal growth factor receptor signaling pathwayGO:00071739.3FGFR3, FGFR1, FGFR2, CBL
46negative regulation of apoptotic processGO:00430669.1CBL, MSX2, TWIST2, TWIST1
47embryonic cranial skeleton morphogenesisGO:00487019.1RUNX2, TWIST2, TWIST1, FGFR2
48positive regulation of cell proliferationGO:00082849.0RUNX2, FGFR2, FGFR1, FGFR3
49negative regulation of transcription from RNA polymerase II promoterGO:00001228.9MSX2, TWIST2, TWIST1, FGFR2, FGFR1, FGFR3
50osteoblast differentiationGO:00016498.7TWIST1, TWIST2, MSX2, BGLAP, RUNX2

Molecular functions related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1E-box bindingGO:00708889.8TWIST1, HAND2
2fibroblast growth factor-activated receptor activityGO:00050079.7FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:00171349.7FGFR2, FGFR1, FGFR3
4protein tyrosine kinase activityGO:00047139.6FGFR2, FGFR1, FGFR3
5bHLH transcription factor bindingGO:00434259.5TWIST1, RUNX2
6RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.3MSX2, RUNX2
7protein homodimerization activityGO:00428039.3FGFR1, FGFR2, TWIST1, HAND2
8transcription factor bindingGO:00081349.2TWIST1, MSX2, HAND2
9ATP bindingGO:00055248.1RUNX2, ACSL3, FGFR2, FGFR1, FGFR3
10protein domain specific bindingGO:00199048.1TWIST1, TWIST2, CASP2, ACSL3, RUNX2
11protein bindingGO:00055156.3RUNX2, HAND2, CBL, MSX2, CASP2, TWIST2

Products for genes affiliated with Saethre-Chotzen Syndrome

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Sources for Saethre-Chotzen Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
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35MGI
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39NDF-RT
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