MCID: STH001
MIFTS: 59

Saethre-Chotzen Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Eye diseases

Aliases & Classifications for Saethre-Chotzen Syndrome

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Aliases & Descriptions for Saethre-Chotzen Syndrome:

Name: Saethre-Chotzen Syndrome 51 11 23 47 24 25 69 26 49 13 67
Saethre-Chotzen Syndrome with Eyelid Anomalies 51 26 12
Acrocephalosyndactyly Type Iii 11 23 24
Acs3 47 25 69
Scs 47 25 69
Acrocephaly, Skull Asymmetry, and Mild Syndactyly 47 25
Acrocephalosyndactyly Type 3 47 69
Chotzen Syndrome 47 25
 
Acs Iii 25 69
Dysostosis Craniofacialis with Hypertelorism 25
Acrocephalosyndactyly, Type Iii 25
Acrocephalo-Syndactyly, Type 3 47
Acrocephalosyndactyly Iii 25
Sakati Syndrome 67
Acs 3 47

Characteristics:

HPO:

63
saethre-chotzen syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: variable expressivity

GeneReviews:

23
Penetrance: precise penetrance data are not available; however, wide phenotypic variability and incomplete penetrance are well described [dollfus et al 2002, de heer et al 2005]. ...


Classifications:



External Ids:

OMIM51 101400
Disease Ontology11 DOID:14768
MeSH38 D000168
NCIt44 C75034

Summaries for Saethre-Chotzen Syndrome

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NIH Rare Diseases:47 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 and symmetry of the head and face. Other features may include webbing of certain fingers or toes (syndactyly), small or unusually shaped ears, short stature, and abnormalities of the bones in the spine (the vertebrae). The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. Mutations (variants) in the TWIST1 gene cause most cases of Saethre-Chotzen syndrome. The 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. Treatment is aimed at addressing the symptoms found in each individual and may require the coordinated efforts of a team of specialists. Surgery is often needed to prevent or correct early closure of the cranial sutures and correct certain craniofacial abnormalities, syndactyly and/or skeletal defects.  Last updated: 7/20/2016

MalaCards based summary: Saethre-Chotzen Syndrome, also known as saethre-chotzen syndrome with eyelid anomalies, is related to jackson-weiss syndrome and sc phocomelia syndrome, and has symptoms including facial asymmetry, craniosynostosis and finger syndactyly. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways are Cytoskeleton remodeling_RalB regulation pathway and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include skull, bone and neutrophil, and related mouse phenotypes are pigmentation and embryo.

Disease Ontology:11 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:25 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.

UniProtKB/Swiss-Prot:69 Saethre-Chotzen syndrome: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.

Description from OMIM:51 101400

GeneReviews for NBK1189

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 68)
idRelated DiseaseScoreTop Affiliating Genes
1jackson-weiss syndrome29.1FGFR1, FGFR2, FGFR3, RUNX2, TWIST1
2sc phocomelia syndrome12.3
3saethre-chotzen syndrome, fgfr2-related12.2
4roberts syndrome11.7
5robinow-sorauf syndrome11.6
6sickle cell anemia11.6
7baller-gerold syndrome11.2
8craniosynostosis10.6
9staphylococcal scarlet fever10.5FGFR3, TWIST1
10mite infestation10.4FGFR2, FGFR3
11apert syndrome10.4FGFR2, FGFR3
12accommodative esotropia10.4FGFR2, FGFR3
13breast cancer10.3
14phocomelia10.2
15multifocal osteogenic sarcoma10.2RUNX2, TWIST1
16night blindness, congenital stationary , 1b, autosomal recessive10.2MSX2, RUNX2
17pfeiffer syndrome10.2
18synostosis10.2
19cervicitis10.2
20intracranial hypertension10.2
21scrapie10.2
22critical congenital heart disease10.1CBL, RUNX2
23glaucomatocyclitic crisis10.1FGFR2, FGFR3
24crouzon syndrome with acanthosis nigricans10.1CBL, FGFR2, FGFR3
25vulvovaginitis10.1FGFR2, IBSP, RUNX2
26renal cell carcinoma10.1
27crouzon syndrome10.1
28sensorineural hearing loss10.1
29polydactyly10.1
30auralcephalosyndactyly10.1
31hyper ige syndrome10.1
32ochronosis10.0ALPP, RUNX2
33breast squamous cell carcinoma10.0ALPP, FGFR2
34pfn1-related amyotrophic lateral sclerosis10.0FGFR1, FGFR2
35encephalopathy10.0
36y-linked disease10.0FGFR2, FGFR3, MSX2
37scleredema adultorum10.0FGFR2, FGFR3
38pleuropneumonia10.0
39uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis9.9FGFR1, FGFR2
40prion disease9.9
41splenic sequestration9.9
42osteopetrosis and infantile neuroaxonal dystrophy9.9FGFR1, FGFR3
43hemoglobinopathy9.9
44orbital granuloma9.9MSX2, RECQL4, RUNX2, TWIST1
45flnb-related disorders9.8FGFR1, FGFR2, FGFR3
46trigonocephaly 19.8FGFR1, FGFR2, FGFR3
47hypogonadotropic hypogonadism 2 with or without anosmia9.8FGFR1, FGFR2, FGFR3
48thanatophoric dysplasia, type i9.8FGFR1, FGFR2, FGFR3
49acute chest syndrome9.8
50antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.8FGFR1, FGFR2, 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

Human phenotypes related to Saethre-Chotzen Syndrome:

 63 (show all 62)
id Description HPO Frequency HPO Source Accession
1 facial asymmetry63 hallmark (90%) HP:0000324
2 craniosynostosis63 hallmark (90%) HP:0001363
3 finger syndactyly63 hallmark (90%) HP:0006101
4 low anterior hairline63 typical (50%) HP:0000294
5 hypertelorism63 typical (50%) HP:0000316
6 atresia of the external auditory canal63 typical (50%) HP:0000413
7 convex nasal ridge63 typical (50%) HP:0000444
8 strabismus63 typical (50%) HP:0000486
9 ptosis63 typical (50%) HP:0000508
10 single transverse palmar crease63 typical (50%) HP:0000954
11 brachydactyly syndrome63 typical (50%) HP:0001156
12 external ear malformation63 typical (50%) HP:0008572
13 cryptorchidism63 occasional (7.5%) HP:0000028
14 cleft palate63 occasional (7.5%) HP:0000175
15 low-set, posteriorly rotated ears63 occasional (7.5%) HP:0000368
16 conductive hearing impairment63 occasional (7.5%) HP:0000405
17 sensorineural hearing impairment63 occasional (7.5%) HP:0000407
18 visual impairment63 occasional (7.5%) HP:0000505
19 optic atrophy63 occasional (7.5%) HP:0000648
20 seizures63 occasional (7.5%) HP:0001250
21 hallux valgus63 occasional (7.5%) HP:0001822
22 migraine63 occasional (7.5%) HP:0002076
23 apnea63 occasional (7.5%) HP:0002104
24 increased intracranial pressure63 occasional (7.5%) HP:0002516
25 scoliosis63 occasional (7.5%) HP:0002650
26 radioulnar synostosis63 occasional (7.5%) HP:0002974
27 abnormal form of the vertebral bodies63 occasional (7.5%) HP:0003312
28 short stature63 occasional (7.5%) HP:0004322
29 cognitive impairment63 occasional (7.5%) HP:0100543
30 narrow palate63 HP:0000189
31 brachycephaly63 HP:0000248
32 oxycephaly63 HP:0000263
33 delayed cranial suture closure63 HP:0000270
34 malar flattening63 HP:0000272
35 hypoplasia of the maxilla63 HP:0000327
36 high forehead63 HP:0000348
37 hearing impairment63 HP:0000365
38 low-set ears63 HP:0000369
39 narrow nose63 HP:0000460
40 buphthalmos63 HP:0000557
41 shallow orbits63 HP:0000586
42 abnormality of the nasolacrimal system63 HP:0000614
43 plagiocephaly63 HP:0001357
44 toe syndactyly63 HP:0001770
45 intellectual disability, moderate63 HP:0002342
46 abnormality of pelvic girdle bone morphology63 HP:0002644
47 skull asymmetry63 HP:0002678
48 parietal foramina63 HP:0002697
49 breast carcinoma63 HP:0003002
50 long nose63 HP:0003189
51 clinodactyly of the 5th finger63 HP:0004209
52 flat forehead63 HP:0004425
53 coronal craniosynostosis63 HP:0004440
54 lambdoidal craniosynostosis63 HP:0004443
55 microtia63 HP:0008551
56 prominent crus of helix63 HP:0009899
57 partial duplication of the distal phalanx of the 2nd finger63 HP:0009951
58 partial duplication of the distal phalanx of the 3rd finger63 HP:0009968
59 absent first metatarsal63 HP:0010104
60 cleft of chin63 HP:0011323
61 flat face63 HP:0012368
62 abnormality of cardiovascular system morphology63 HP:0030680

Drugs & Therapeutics for Saethre-Chotzen Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome26 24 TWIST1
2 Saethre-Chotzen Syndrome with Eyelid Anomalies26

Anatomical Context for Saethre-Chotzen Syndrome

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MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

35
Bone, Neutrophil

FMA organs/tissues related to Saethre-Chotzen Syndrome:

17
Skull

Animal Models for Saethre-Chotzen Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

40 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2CBL, FGFR2, MSX2, RECQL4
2MP:00053808.9FGFR1, FGFR2, HAND2, MSX2, RECQL4, TWIST1
3MP:00053778.5CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
4MP:00053898.2CASP2, CBL, FGFR1, FGFR2, FGFR3, RUNX2
5MP:00036318.2CASP2, FGFR1, FGFR2, FGFR3, HAND2, MSX2
6MP:00053918.1FGFR1, FGFR2, FGFR3, MSX2, RECQL4, RUNX2
7MP:00053698.0CBL, FGFR1, FGFR2, HAND2, MSX2, RUNX2
8MP:00053867.9CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
9MP:00053857.8CBL, FGFR1, FGFR2, HAND2, MSX2, RUNX2
10MP:00107717.6CBL, FGFR1, FGFR2, FGFR3, MSX2, RECQL4
11MP:00053817.4FGFR1, FGFR2, FGFR3, HAND2, MSX2, RECQL4
12MP:00053797.2CASP2, CBL, FGFR1, FGFR2, HAND2, MSX2
13MP:00053827.0CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
14MP:00053847.0CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2
15MP:00053716.6CBL, FGFR1, FGFR2, FGFR3, HAND2, IBSP
16MP:00053906.6CBL, FGFR1, FGFR2, FGFR3, HAND2, IBSP
17MP:00107686.5CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2
18MP:00053786.5CBL, FGFR1, FGFR2, FGFR3, HAND2, IBSP
19MP:00053876.4CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2
20MP:00053976.4CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2

Publications for Saethre-Chotzen Syndrome

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Articles related to Saethre-Chotzen Syndrome:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome. (27870659)
2016
2
New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis. (26114524)
2015
3
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
4
Interrelationship of cranial suture fusion, basicranial development, and resynostosis following suturectomy in twist1(+/-) mice, a murine model of Saethre-Chotzen syndrome. (22903506)
2012
5
Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome. (22569119)
2012
6
Prenatal sonographic diagnosis of familial Saethre-Chotzen syndrome. (21357567)
2011
7
Audiologic findings in Saethre-Chotzen syndrome. (21532428)
2011
8
Saethre-Chotzen syndrome: a case report. (19860490)
2010
9
Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. (20184424)
2010
10
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. (19373776)
2009
11
The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. (19952666)
2009
12
Discussion. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. (19483582)
2009
13
Anesthesia in a child with Saethre-Chotzen syndrome. (18095973)
2008
14
Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter. (18019370)
2007
15
Women with Saethre-Chotzen syndrome are at increased risk of breast cancer. (17437280)
2007
16
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. (16251895)
2006
17
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma. (17074596)
2006
18
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. (16526917)
2006
19
In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome. (15781003)
2005
20
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. (15923834)
2005
21
Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities. (15735646)
2005
22
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations. (15151448)
2004
23
Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome. (15547403)
2004
24
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. (12612814)
2003
25
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. (14513358)
2003
26
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. (11977182)
2002
27
Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome. (12015302)
2002
28
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis. (11280946)
2001
29
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. (10094188)
1999
30
Dental findings in Saethre-Chotzen syndrome (acrocephalosyndactyly type III): report of case. (9617456)
1998
31
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. (9585583)
1998
32
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. (9580658)
1998
33
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. (8988166)
1997
34
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. (8988167)
1997
35
The cervical spine in Saethre-Chotzen syndrome. (9003917)
1997
36
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. (8723106)
1996
37
Possible genetic heterogeneity in the Saethre-Chotzen syndrome. (8698349)
1996
38
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
39
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
40
Inadvertant dural puncture during caudal anaesthesia for Saethre-Chotzen syndrome. (1888000)
1991
41
Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? (2769726)
1989
42
Parietal foramina in the Saethre-Chotzen syndrome. (4078875)
1985
43
The concurrence of Saethre-Chotzen syndrome and malignancy in a family with in vitro immune dysfunction. (6093987)
1984
44
Dermatoglyphics in Saethre-Chotzen syndrome: a family study. (6671070)
1983
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
Comparative dermatoglyphic analysis in two types of acrocephalosyndactyly: Saethre-Chotzen syndrome and Pfeiffer syndrome. (552891)
1979
47
Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations. (925822)
1977
48
Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia. (862213)
1977
49
Cephalic malformations in Saethre-Chotzen syndrome. Acrocephalosyndactyly type III. (981618)
1976
50
The Saethre-Chotzen syndrome. (1227525)
1975

Variations for Saethre-Chotzen Syndrome

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

69
id Symbol AA change Variation ID SNP ID
1TWIST1p.Gln119ProVAR_004495rs104894057
2TWIST1p.Leu131ProVAR_004496rs121909189
3TWIST1p.Ile156ValVAR_015219rs104894059

Clinvar genetic disease variations for Saethre-Chotzen Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.804_809delAGTGGT (p.Val269_Val270del)deletionPathogenicrs879253718GRCh37Chr 10, 123279623: 123279628
2FGFR3NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg)SNVPathogenicrs4647924GRCh37Chr 4, 1803571: 1803571
3TWIST1NM_000474.3(TWIST1): c.308dupA (p.Tyr103Terfs)duplicationPathogenicrs121909186GRCh37Chr 7, 19156637: 19156637
4TWIST1NM_000474.3(TWIST1): c.356A> C (p.Gln119Pro)SNVPathogenicrs104894057GRCh37Chr 7, 19156589: 19156589
5TWIST1NM_000474.3(TWIST1): c.309C> A (p.Tyr103Ter)SNVPathogenicrs104894054GRCh37Chr 7, 19156636: 19156636
6TWIST1NM_000474.3(TWIST1): c.368C> A (p.Ser123Ter)SNVPathogenicrs121909187GRCh37Chr 7, 19156577: 19156577
7TWIST1NM_000474.3(TWIST1): c.376G> T (p.Glu126Ter)SNVPathogenicrs121909188GRCh37Chr 7, 19156569: 19156569
8TWIST1NM_000474.3(TWIST1): c.392T> C (p.Leu131Pro)SNVPathogenicrs121909189GRCh37Chr 7, 19156553: 19156553
9TWIST1TWIST1, 21-BP DUPduplicationPathogenicChr na, -1: -1
10TWIST1NM_000474.3(TWIST1): c.541G> T (p.Glu181Ter)SNVPathogenicrs104894058GRCh37Chr 7, 19156404: 19156404
11TWIST1NM_000474.3(TWIST1): c.466A> G (p.Ile156Val)SNVPathogenicrs104894059GRCh37Chr 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 21)
idSuper pathwaysScoreTop Affiliating Genes
19.6FGFR1, FGFR2, FGFR3
29.6FGFR1, FGFR2, FGFR3
39.6FGFR1, FGFR2, FGFR3
4
Show member pathways
9.6FGFR1, FGFR2, FGFR3
59.6FGFR1, FGFR2, FGFR3
6
Show member pathways
9.6FGFR1, FGFR2, FGFR3
7
Show member pathways
9.6FGFR1, FGFR2, FGFR3
89.6FGFR1, FGFR2, FGFR3
99.5FGFR1, FGFR3, RUNX2
109.2CASP2, FGFR1, FGFR2, FGFR3
119.1FGFR1, FGFR2, FGFR3, IBSP
12
Show member pathways
9.1CBL, FGFR1, FGFR2, FGFR3
139.1CBL, FGFR1, FGFR2, FGFR3
14
Show member pathways
9.1CBL, FGFR1, FGFR2, FGFR3
15
Show member pathways
9.1CBL, FGFR1, FGFR2, FGFR3
169.1CBL, FGFR1, FGFR2, FGFR3
179.1CBL, FGFR1, FGFR2, FGFR3
189.0FGFR1, FGFR2, FGFR3, MSX2, TWIST1
199.0CBL, FGFR1, FGFR2, RUNX2
208.9ALPP, MSX2, RUNX2
218.9CBL, FGFR1, TWIST1, TWIST2

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
1nucleusGO:00056346.3CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2

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

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.6FGFR1, FGFR2
2cardiac neural crest cell migration involved in outflow tract morphogenesisGO:000325310.6HAND2, TWIST1
3cardiac neural crest cell development involved in outflow tract morphogenesisGO:006130910.6HAND2, TWIST1
4positive regulation of transcription regulatory region DNA bindingGO:200067910.6HAND2, TWIST1
5outer ear morphogenesisGO:004247310.6FGFR1, TWIST1
6regulation of fibroblast growth factor receptor signaling pathwayGO:004003610.5FGFR2, RUNX2
7mesenchymal cell differentiationGO:004876210.5FGFR1, FGFR2
8cranial suture morphogenesisGO:006036310.5MSX2, TWIST1
9outflow tract septum morphogenesisGO:000314810.5FGFR2, MSX2
10positive regulation of cardiac muscle cell proliferationGO:006004510.5FGFR1, FGFR2
11stem cell differentiationGO:004886310.4MSX2, RUNX2
12branching involved in salivary gland morphogenesisGO:006044510.4FGFR1, FGFR2
13positive regulation of mesenchymal cell proliferationGO:000205310.4FGFR1, FGFR2
14embryonic hindlimb morphogenesisGO:003511610.4MSX2, TWIST1
15osteoblast developmentGO:000207610.3MSX2, RUNX2
16chondrocyte developmentGO:000206310.3MSX2, RUNX2
17ventricular zone neuroblast divisionGO:002184710.3FGFR1, FGFR2
18endochondral bone growthGO:000341610.3FGFR3, MSX2
19phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.3FGFR1, FGFR2, FGFR3
20regulation of osteoblast differentiationGO:004566710.2FGFR2, RUNX2
21phosphatidylinositol phosphorylationGO:004685410.2FGFR1, FGFR2, FGFR3
22regulation of phosphatidylinositol 3-kinase signalingGO:001406610.2FGFR1, FGFR2, FGFR3
23endochondral ossificationGO:000195810.2FGFR3, RUNX2
24odontogenesisGO:004247610.2FGFR2, MSX2, TWIST1
25phosphatidylinositol-mediated signalingGO:004801510.1FGFR1, FGFR2, FGFR3
26positive regulation of phospholipase activityGO:001051810.1FGFR1, FGFR2, FGFR3
27skeletal system morphogenesisGO:004870510.1FGFR1, FGFR2, RUNX2
28embryonic digit morphogenesisGO:004273310.1HAND2, MSX2, TWIST1
29peptidyl-tyrosine phosphorylationGO:001810810.0FGFR1, FGFR2, FGFR3
30lung-associated mesenchyme developmentGO:006048410.0FGFR1, FGFR2
31protein autophosphorylationGO:004677710.0FGFR1, FGFR2, FGFR3
32chondrocyte differentiationGO:000206210.0FGFR1, FGFR3, RUNX2
33embryonic forelimb morphogenesisGO:003511510.0MSX2, RUNX2, TWIST1
34embryonic cranial skeleton morphogenesisGO:004870110.0FGFR2, RUNX2, TWIST1
35bone mineralizationGO:003028210.0FGFR2, FGFR3, IBSP
36bone morphogenesisGO:00603499.9FGFR2, FGFR3, MSX2
37embryonic limb morphogenesisGO:00303269.9FGFR1, MSX2, TWIST1
38positive regulation of MAPK cascadeGO:00434109.9FGFR1, FGFR2, FGFR3
39ossificationGO:00015039.9MSX2, RUNX2, TWIST1
40cellular response to growth factor stimulusGO:00713639.8IBSP, MSX2, TWIST1
41in utero embryonic developmentGO:00017019.8FGFR1, FGFR2, HAND2, TWIST1
42orbitofrontal cortex developmentGO:00217699.8FGFR1, FGFR2
43skeletal system developmentGO:00015019.8FGFR1, FGFR3, RUNX2
44negative regulation of osteoblast differentiationGO:00456689.7FGFR1, HAND2, TWIST1, TWIST2
45fibroblast growth factor receptor signaling pathwayGO:00085439.6CBL, FGFR1, FGFR2, FGFR3
46positive regulation of ERK1 and ERK2 cascadeGO:00703749.3FGFR2, FGFR3, HAND2
47osteoblast differentiationGO:00016499.3IBSP, MSX2, RUNX2, TWIST1
48positive regulation of cell proliferationGO:00082849.2FGFR1, FGFR2, FGFR3, RUNX2
49negative regulation of apoptotic processGO:00430668.6CBL, HAND2, MSX2, TWIST1, TWIST2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:004342510.3RUNX2, TWIST1
2fibroblast growth factor-activated receptor activityGO:000500710.2FGFR1, FGFR2, FGFR3
31-phosphatidylinositol-3-kinase activityGO:001630310.0FGFR1, FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.9FGFR1, FGFR2, FGFR3
5fibroblast growth factor bindingGO:00171349.7FGFR1, FGFR2, FGFR3
6Ras guanyl-nucleotide exchange factor activityGO:00050889.6FGFR1, FGFR2, FGFR3
7protein tyrosine kinase activityGO:00047139.3FGFR1, FGFR2, FGFR3

Sources for Saethre-Chotzen Syndrome

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