MCID: STH001
MIFTS: 59

Saethre-Chotzen Syndrome malady

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

Aliases & Classifications for Saethre-Chotzen Syndrome

About this section

Aliases & Descriptions for Saethre-Chotzen Syndrome:

Name: Saethre-Chotzen Syndrome 52 11 23 48 24 25 70 27 50 13 68
Saethre-Chotzen Syndrome with Eyelid Anomalies 52 27 12
Acrocephalosyndactyly Type Iii 11 23 24
Acs3 48 25 70
Scs 48 25 70
Acrocephaly, Skull Asymmetry, and Mild Syndactyly 48 25
Acrocephalosyndactyly Type 3 48 70
Chotzen Syndrome 48 25
 
Acs Iii 25 70
Dysostosis Craniofacialis with Hypertelorism 25
Acrocephalosyndactyly, Type Iii 25
Acrocephalo-Syndactyly, Type 3 48
Acrocephalosyndactyly Iii 25
Sakati Syndrome 68
Acs 3 48

Characteristics:

HPO:

64
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:

OMIM52 101400
Disease Ontology11 DOID:14768
MeSH39 D000168
NCIt45 C75034

Summaries for Saethre-Chotzen Syndrome

About this section
NIH Rare Diseases:48 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 Condensed cis-Golgi and Increased shRNA abundance (Z-score > 2).

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

Description from OMIM:52 101400

GeneReviews for NBK1189

Related Diseases for Saethre-Chotzen Syndrome

About this section

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 & Phenotypes for Saethre-Chotzen Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

101400

Clinical features from OMIM:

101400

Human phenotypes related to Saethre-Chotzen Syndrome:

 64 (show all 62)
id Description HPO Frequency HPO Source Accession
1 facial asymmetry64 hallmark (90%) HP:0000324
2 craniosynostosis64 hallmark (90%) HP:0001363
3 finger syndactyly64 hallmark (90%) HP:0006101
4 low anterior hairline64 typical (50%) HP:0000294
5 hypertelorism64 typical (50%) HP:0000316
6 atresia of the external auditory canal64 typical (50%) HP:0000413
7 convex nasal ridge64 typical (50%) HP:0000444
8 strabismus64 typical (50%) HP:0000486
9 ptosis64 typical (50%) HP:0000508
10 single transverse palmar crease64 typical (50%) HP:0000954
11 brachydactyly syndrome64 typical (50%) HP:0001156
12 external ear malformation64 typical (50%) HP:0008572
13 cryptorchidism64 occasional (7.5%) HP:0000028
14 cleft palate64 occasional (7.5%) HP:0000175
15 low-set, posteriorly rotated ears64 occasional (7.5%) HP:0000368
16 conductive hearing impairment64 occasional (7.5%) HP:0000405
17 sensorineural hearing impairment64 occasional (7.5%) HP:0000407
18 visual impairment64 occasional (7.5%) HP:0000505
19 optic atrophy64 occasional (7.5%) HP:0000648
20 seizures64 occasional (7.5%) HP:0001250
21 hallux valgus64 occasional (7.5%) HP:0001822
22 migraine64 occasional (7.5%) HP:0002076
23 apnea64 occasional (7.5%) HP:0002104
24 increased intracranial pressure64 occasional (7.5%) HP:0002516
25 scoliosis64 occasional (7.5%) HP:0002650
26 radioulnar synostosis64 occasional (7.5%) HP:0002974
27 abnormal form of the vertebral bodies64 occasional (7.5%) HP:0003312
28 short stature64 occasional (7.5%) HP:0004322
29 cognitive impairment64 occasional (7.5%) HP:0100543
30 narrow palate64 HP:0000189
31 brachycephaly64 HP:0000248
32 oxycephaly64 HP:0000263
33 delayed cranial suture closure64 HP:0000270
34 malar flattening64 HP:0000272
35 hypoplasia of the maxilla64 HP:0000327
36 high forehead64 HP:0000348
37 hearing impairment64 HP:0000365
38 low-set ears64 HP:0000369
39 narrow nose64 HP:0000460
40 buphthalmos64 HP:0000557
41 shallow orbits64 HP:0000586
42 abnormality of the nasolacrimal system64 HP:0000614
43 plagiocephaly64 HP:0001357
44 toe syndactyly64 HP:0001770
45 intellectual disability, moderate64 HP:0002342
46 abnormality of pelvic girdle bone morphology64 HP:0002644
47 skull asymmetry64 HP:0002678
48 parietal foramina64 HP:0002697
49 breast carcinoma64 HP:0003002
50 long nose64 HP:0003189
51 clinodactyly of the 5th finger64 HP:0004209
52 flat forehead64 HP:0004425
53 coronal craniosynostosis64 HP:0004440
54 lambdoidal craniosynostosis64 HP:0004443
55 microtia64 HP:0008551
56 prominent crus of helix64 HP:0009899
57 partial duplication of the distal phalanx of the 2nd finger64 HP:0009951
58 partial duplication of the distal phalanx of the 3rd finger64 HP:0009968
59 absent first metatarsal64 HP:0010104
60 cleft of chin64 HP:0011323
61 flat face64 HP:0012368
62 abnormality of cardiovascular system morphology64 HP:0030680

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00365-A9.8ALPP, FGFR1, FGFR2
2GR00366-A-358.8CBL, FGFR1, HAND2, TWIST2

MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

41 (show all 20)
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

Drugs & Therapeutics for Saethre-Chotzen Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Saethre-Chotzen Syndrome

Genetic Tests for Saethre-Chotzen Syndrome

About this section

Genetic tests related to Saethre-Chotzen Syndrome:

id Genetic test Affiliating Genes
1 Saethre-Chotzen Syndrome27 24 TWIST1
2 Saethre-Chotzen Syndrome with Eyelid Anomalies27

Anatomical Context for Saethre-Chotzen Syndrome

About this section

MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

36
Bone, Neutrophil

FMA organs/tissues related to Saethre-Chotzen Syndrome:

17
Skull

Publications for Saethre-Chotzen Syndrome

About this section

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
Y-craniosynostosis by premature fusion of the metopic and coronal sutures: A new nosological entity or a variety of Saethre-Chotzen syndrome? (25808521)
2015
4
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
5
Child with Saethre-Chotzen syndrome: anesthetic management and literature review. (25622384)
2014
6
A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome. (25565733)
2014
7
Interrelationship of cranial suture fusion, basicranial development, and resynostosis following suturectomy in twist1(+/-) mice, a murine model of Saethre-Chotzen syndrome. (22903506)
2012
8
Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome. (22569119)
2012
9
Prenatal sonographic diagnosis of familial Saethre-Chotzen syndrome. (21357567)
2011
10
Audiologic findings in Saethre-Chotzen syndrome. (21532428)
2011
11
Saethre-Chotzen syndrome: a case report. (19860490)
2010
12
Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. (20184424)
2010
13
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. (19373776)
2009
14
The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. (19952666)
2009
15
Discussion. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. (19483582)
2009
16
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. (19483581)
2009
17
Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer. (19025794)
2009
18
The frequency of palatal anomalies in Saethre-Chotzen syndrome. (19642760)
2009
19
Anesthesia in a child with Saethre-Chotzen syndrome. (18095973)
2008
20
Saethre-Chotzen syndrome and anesthesia. (18950351)
2008
21
Psychiatric comorbidity in a girl with Saethre-Chotzen syndrome. (18797404)
2008
22
Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter. (18019370)
2007
23
Women with Saethre-Chotzen syndrome are at increased risk of breast cancer. (17437280)
2007
24
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. (16251895)
2006
25
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma. (17074596)
2006
26
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. (16526917)
2006
27
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
28
In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome. (15781003)
2005
29
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. (15923834)
2005
30
Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities. (15735646)
2005
31
Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome. (15802514)
2005
32
Saethre-Chotzen syndrome: a case report. (16503569)
2005
33
A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome. (15829502)
2005
34
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations. (15151448)
2004
35
Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome. (15547403)
2004
36
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. (12612814)
2003
37
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. (14513358)
2003
38
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (12791045)
2003
39
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. (11977182)
2002
40
Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome. (12015302)
2002
41
Saethre-Chotzen syndrome presenting with incomplete renal Fanconi syndrome. (12218332)
2002
42
A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation. (11772178)
2002
43
Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation. (11854168)
2002
44
Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. (12221714)
2002
45
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis. (11280946)
2001
46
Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene. (11746028)
2001
47
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. (11248247)
2001
48
Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome. (11342579)
2001
49
Saethre-Chotzen syndrome: review of the literature and report of a case. (11314068)
2000
50
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. (10094188)
1999

Variations for Saethre-Chotzen Syndrome

About this section

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

70
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

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

Pathways for genes affiliated with Saethre-Chotzen Syndrome

About this section

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

About this section

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
1cardiac neural crest cell development involved in outflow tract morphogenesisGO:006130910.7HAND2, TWIST1
2cardiac neural crest cell migration involved in outflow tract morphogenesisGO:000325310.7HAND2, TWIST1
3branching involved in salivary gland morphogenesisGO:006044510.7FGFR1, FGFR2
4fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.6FGFR1, FGFR2
5cranial suture morphogenesisGO:006036310.6MSX2, TWIST1
6lung-associated mesenchyme developmentGO:006048410.6FGFR1, FGFR2
7mesenchymal cell differentiationGO:004876210.6FGFR1, FGFR2
8embryonic hindlimb morphogenesisGO:003511610.6MSX2, TWIST1
9outer ear morphogenesisGO:004247310.6FGFR1, TWIST1
10orbitofrontal cortex developmentGO:002176910.6FGFR1, FGFR2
11endochondral bone growthGO:000341610.6FGFR3, MSX2
12positive regulation of cardiac muscle cell proliferationGO:006004510.6FGFR1, FGFR2
13outflow tract septum morphogenesisGO:000314810.6FGFR2, MSX2
14endochondral ossificationGO:000195810.6FGFR3, RUNX2
15positive regulation of transcription regulatory region DNA bindingGO:200067910.6HAND2, TWIST1
16positive regulation of mesenchymal cell proliferationGO:000205310.5FGFR1, FGFR2
17chondrocyte developmentGO:000206310.5MSX2, RUNX2
18osteoblast developmentGO:000207610.5MSX2, RUNX2
19regulation of fibroblast growth factor receptor signaling pathwayGO:004003610.5FGFR2, RUNX2
20regulation of osteoblast differentiationGO:004566710.5FGFR2, RUNX2
21odontogenesisGO:004247610.4FGFR2, MSX2, TWIST1
22bone morphogenesisGO:006034910.3FGFR2, FGFR3, MSX2
23embryonic cranial skeleton morphogenesisGO:004870110.3FGFR2, RUNX2, TWIST1
24embryonic digit morphogenesisGO:004273310.3HAND2, MSX2, TWIST1
25peptidyl-tyrosine phosphorylationGO:001810810.3FGFR1, FGFR2, FGFR3
26phosphatidylinositol phosphorylationGO:004685410.3FGFR1, FGFR2, FGFR3
27phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.3FGFR1, FGFR2, FGFR3
28phosphatidylinositol-mediated signalingGO:004801510.3FGFR1, FGFR2, FGFR3
29embryonic limb morphogenesisGO:003032610.3FGFR1, MSX2, TWIST1
30positive regulation of ERK1 and ERK2 cascadeGO:007037410.3FGFR2, FGFR3, HAND2
31embryonic forelimb morphogenesisGO:003511510.3MSX2, RUNX2, TWIST1
32positive regulation of MAPK cascadeGO:004341010.3FGFR1, FGFR2, FGFR3
33chondrocyte differentiationGO:000206210.3FGFR1, FGFR3, RUNX2
34positive regulation of phospholipase activityGO:001051810.3FGFR1, FGFR2, FGFR3
35ossificationGO:000150310.2MSX2, RUNX2, TWIST1
36bone mineralizationGO:003028210.2FGFR2, FGFR3, IBSP
37protein autophosphorylationGO:004677710.2FGFR1, FGFR2, FGFR3
38regulation of phosphatidylinositol 3-kinase signalingGO:001406610.2FGFR1, FGFR2, FGFR3
39cellular response to growth factor stimulusGO:007136310.2IBSP, MSX2, TWIST1
40in utero embryonic developmentGO:000170110.1FGFR1, FGFR2, HAND2, TWIST1
41skeletal system developmentGO:000150110.0FGFR1, FGFR3, RUNX2
42positive regulation of cell proliferationGO:00082849.9FGFR1, FGFR2, FGFR3, RUNX2
43skeletal system morphogenesisGO:00487059.9FGFR1, FGFR2, RUNX2
44ventricular zone neuroblast divisionGO:00218479.9FGFR1, FGFR2
45fibroblast growth factor receptor signaling pathwayGO:00085439.8CBL, FGFR1, FGFR2, FGFR3
46negative regulation of osteoblast differentiationGO:00456689.8FGFR1, HAND2, TWIST1, TWIST2
47osteoblast differentiationGO:00016499.8IBSP, MSX2, RUNX2, TWIST1
48stem cell differentiationGO:00488639.8MSX2, RUNX2
49negative regulation of apoptotic processGO:00430669.3CBL, 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:004342510.5RUNX2, TWIST1
21-phosphatidylinositol-3-kinase activityGO:001630310.2FGFR1, FGFR2, FGFR3
3fibroblast growth factor bindingGO:001713410.2FGFR1, FGFR2, FGFR3
4fibroblast growth factor-activated receptor activityGO:000500710.2FGFR1, FGFR2, FGFR3
5phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.2FGFR1, FGFR2, FGFR3
6protein tyrosine kinase activityGO:000471310.1FGFR1, FGFR2, FGFR3
7Ras guanyl-nucleotide exchange factor activityGO:00050889.6FGFR1, FGFR2, FGFR3

Sources for Saethre-Chotzen Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet