SCS
MCID: STH001
MIFTS: 60

Saethre-Chotzen Syndrome (SCS) 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 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

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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 robinow-sorauf syndrome and sc phocomelia syndrome, and has symptoms including cleft palate, narrow palate and brachycephaly. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways are Central carbon metabolism in cancer and Angiogenesis (CST). Affiliated tissues include skull, bone and breast, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

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

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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 72)
idRelated DiseaseScoreTop Affiliating Genes
1robinow-sorauf syndrome29.5ALPP, BGLAP, CASP2, CASP8, CBL, COL1A2
2sc phocomelia syndrome12.3
3saethre-chotzen syndrome, fgfr2-related12.2
4sickle cell anemia12.0
5roberts syndrome11.7
6baller-gerold syndrome11.2
7syndactyly11.2
8craniosynostosis10.6
9breast cancer10.3
10idiopathic recurrent and disabling cutaneous herpes10.2FGFR3, TWIST1
11isolated scaphocephaly10.2FGFR3, TWIST1
12phocomelia10.2
13pkp1-related ectodermal dysplasia/skin fragility syndrome10.2FGFR1, FGFR2
14pfeiffer syndrome10.2
15synostosis10.2
16cervicitis10.2
17intracranial hypertension10.2
18scrapie10.2
19pitx3-related anterior segment mesenchymal dysgenesis10.2FGFR1, FGFR2
20cervical spinal canal and spinal cord meningioma10.2FGFR2, FGFR3
21muenke syndrome10.2CBL, FGFR2, FGFR3
22familial porphyria cutanea tarda10.1FGFR1, FGFR2, FGFR3
23antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.1FGFR2, FGFR3
24hartsfield syndrome10.1FGFR1, FGFR2, FGFR3
25leukotriene c4 synthase deficiency10.1MSX2, RUNX2
26osteoglophonic dysplasia10.1FGFR1, FGFR2, FGFR3
27crouzon syndrome with acanthosis nigricans10.1FGFR1, FGFR2, FGFR3
28t cell immunodeficiency primary10.1FGFR1, FGFR3, RUNX2
29thanatophoric dysplasia, type i10.1FGFR1, FGFR2, FGFR3
30saddan10.1FGFR1, FGFR2, FGFR3
31pointer syndrome10.1FGFR1, FGFR2, FGFR3, TWIST1
32scaphocephaly, maxillary retrusion, and mental retardation10.1FGFR1, FGFR2, FGFR3, TWIST1
33cervical cancer, somatic10.1FGFR1, FGFR2, FGFR3, TWIST1
34maroteaux stanescu cousin syndrome10.0ALPP, BGLAP, RUNX2
35renal cell carcinoma10.0
36jackson-weiss syndrome10.0
37crouzon syndrome10.0
38congenital adrenal hyperplasia10.0
39sensorineural hearing loss10.0
40fanconi syndrome10.0
41polydactyly10.0
42auralcephalosyndactyly10.0
43hyper ige syndrome10.0
44neuropathy, distal hereditary motor, type iia10.0COL1A2, FGFR3, RUNX2
45autosomal genetic disease10.0FGFR2, FGFR3, MSX2
46acth-independent macronodular adrenal hyperplasia10.0ALPP, BGLAP, RUNX2
47encephalopathy10.0
48juvenile astrocytoma10.0FGFR1, FGFR3, TWIST1
49pharyngitis10.0BGLAP, FGFR2, IBSP, RUNX2
50dressler's syndrome10.0MSX2, RECQL4, RUNX2, TWIST1

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



Diseases related to saethre-chotzen syndrome

Symptoms & Phenotypes 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:

 64 (show all 72)
id Description HPO Frequency HPO Source Accession
1 cleft palate64 HP:0000175
2 narrow palate64 HP:0000189
3 brachycephaly64 HP:0000248
4 oxycephaly64 HP:0000263
5 delayed cranial suture closure64 HP:0000270
6 malar flattening64 HP:0000272
7 low anterior hairline64 HP:0000294
8 hypertelorism64 HP:0000316
9 facial asymmetry64 HP:0000324
10 hypoplasia of the maxilla64 HP:0000327
11 high forehead64 HP:0000348
12 hearing impairment64 HP:0000365
13 low-set ears64 HP:0000369
14 convex nasal ridge64 HP:0000444
15 narrow nose64 HP:0000460
16 strabismus64 HP:0000486
17 ptosis64 HP:0000508
18 buphthalmos64 HP:0000557
19 shallow orbits64 HP:0000586
20 abnormality of the nasolacrimal system64 HP:0000614
21 brachydactyly syndrome64 HP:0001156
22 plagiocephaly64 HP:0001357
23 abnormal heart morphology64 HP:0001627
24 toe syndactyly64 HP:0001770
25 hallux valgus64 HP:0001822
26 intellectual disability, moderate64 HP:0002342
27 abnormality of pelvic girdle bone morphology64 HP:0002644
28 skull asymmetry64 HP:0002678
29 parietal foramina64 HP:0002697
30 radioulnar synostosis64 HP:0002974
31 breast carcinoma64 HP:0003002
32 long nose64 HP:0003189
33 clinodactyly of the 5th finger64 HP:0004209
34 short stature64 HP:0004322
35 flat forehead64 HP:0004425
36 coronal craniosynostosis64 HP:0004440
37 lambdoidal craniosynostosis64 HP:0004443
38 microtia64 HP:0008551
39 prominent crus of helix64 HP:0009899
40 partial duplication of the distal phalanx of the 2nd finger64 HP:0009951
41 partial duplication of the distal phalanx of the 3rd finger64 HP:0009968
42 absent first metatarsal64 HP:0010104
43 cleft of chin64 HP:0011323
44 flat face64 HP:0012368
45 cryptorchidism64 HP:0000028
46 epicanthus64 HP:0000286
47 conductive hearing impairment64 HP:0000405
48 sensorineural hearing impairment64 HP:0000407
49 prominent nasal bridge64 HP:0000426
50 hypotelorism64 HP:0000601
51 blepharospasm64 HP:0000643
52 amblyopia64 HP:0000646
53 optic atrophy64 HP:0000648
54 triphalangeal thumb64 HP:0001199
55 seizures64 HP:0001250
56 craniosynostosis64 HP:0001363
57 migraine64 HP:0002076
58 increased intracranial pressure64 HP:0002516
59 scoliosis64 HP:0002650
60 hyperlordosis64 HP:0003307
61 abnormal form of the vertebral bodies64 HP:0003312
62 proximal radio-ulnar synostosis64 HP:0005037
63 depressed nasal bridge64 HP:0005280
64 finger syndactyly64 HP:0006101
65 bilateral single transverse palmar creases64 HP:0007598
66 external ear malformation64 HP:0008572
67 abnormality of the antihelix64 HP:0009738
68 sleep apnea64 HP:0010535
69 open bite64 HP:0010807
70 broad thumb64 HP:0011304
71 narrow internal auditory canal64 HP:0011386
72 abnormality of cardiovascular system morphology64 HP:0030680

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

41 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
2MP:00053918.6FGFR1, FGFR2, FGFR3, MSX2, RECQL4, RUNX2
3MP:00053808.2CASP8, FGFR1, FGFR2, HAND2, MSX2, RECQL4
4MP:00053828.0CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
5MP:00053817.9FGFR1, FGFR2, FGFR3, HAND2, MSX2, RECQL4
6MP:00053867.9CBL, COL1A2, FGFR1, FGFR2, FGFR3, HAND2
7MP:00053707.9CASP8, CBL, FGFR2, HAND2, RUNX2, TWIST2
8MP:00036317.5CASP2, CASP8, FGFR1, FGFR2, FGFR3, HAND2
9MP:00053696.9CASP8, CBL, COL1A2, FGFR1, FGFR2, HAND2
10MP:00053856.9CASP8, CBL, COL1A2, FGFR1, FGFR2, HAND2
11MP:00053796.8CASP2, CASP8, CBL, FGFR1, FGFR2, HAND2
12MP:00053716.7CBL, COL1A2, FGFR1, FGFR2, FGFR3, HAND2
13MP:00053906.7CBL, COL1A2, FGFR1, FGFR2, FGFR3, HAND2
14MP:00107716.5CASP8, CBL, COL1A2, FGFR1, FGFR2, FGFR3
15MP:00053876.3CASP2, CASP8, CBL, FGFR1, FGFR2, FGFR3
16MP:00053846.2CASP2, CASP8, CBL, COL1A2, FGFR1, FGFR2
17MP:00053976.0CASP2, CASP8, CBL, FGFR1, FGFR2, FGFR3
18MP:00107685.9CASP2, CASP8, CBL, COL1A2, FGFR1, FGFR2
19MP:00053785.8CASP8, CBL, COL1A2, FGFR1, FGFR2, FGFR3

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 Syndrome27 24 TWIST1
2 Saethre-Chotzen Syndrome with Eyelid Anomalies27

Anatomical Context for Saethre-Chotzen Syndrome

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MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

36
Bone, Breast, Heart, Neutrophil

FMA organs/tissues related to Saethre-Chotzen Syndrome:

17
Skull

Publications for Saethre-Chotzen Syndrome

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Articles related to Saethre-Chotzen Syndrome:

(show top 50)    (show all 95)
idTitleAuthorsYear
1
Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9. (28220539)
2017
2
A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome. (27870659)
2016
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
New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis. (26114524)
2015
5
A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome. (25565733)
2014
6
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
7
Child with Saethre-Chotzen syndrome: anesthetic management and literature review. (25622384)
2014
8
Interrelationship of cranial suture fusion, basicranial development, and resynostosis following suturectomy in twist1(+/-) mice, a murine model of Saethre-Chotzen syndrome. (22903506)
2012
9
Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome. (22569119)
2012
10
Audiologic findings in Saethre-Chotzen syndrome. (21532428)
2011
11
Prenatal sonographic diagnosis of familial Saethre-Chotzen syndrome. (21357567)
2011
12
Saethre-Chotzen syndrome: a case report. (19860490)
2010
13
Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. (20184424)
2010
14
Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer. (19025794)
2009
15
Discussion. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. (19483582)
2009
16
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. (19373776)
2009
17
The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. (19952666)
2009
18
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. (19483581)
2009
19
The frequency of palatal anomalies in Saethre-Chotzen syndrome. (19642760)
2009
20
Psychiatric comorbidity in a girl with Saethre-Chotzen syndrome. (18797404)
2008
21
Saethre-Chotzen syndrome and anesthesia. (18950351)
2008
22
Anesthesia in a child with Saethre-Chotzen syndrome. (18095973)
2008
23
Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter. (18019370)
2007
24
Women with Saethre-Chotzen syndrome are at increased risk of breast cancer. (17437280)
2007
25
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. (16251895)
2006
26
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma. (17074596)
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
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. (16526917)
2006
29
A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome. (15829502)
2005
30
Saethre-Chotzen syndrome: a case report. (16503569)
2005
31
Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities. (15735646)
2005
32
In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome. (15781003)
2005
33
Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome. (15802514)
2005
34
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. (15923834)
2005
35
Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome. (15547403)
2004
36
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations. (15151448)
2004
37
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (12791045)
2003
38
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. (12612814)
2003
39
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. (14513358)
2003
40
Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. (12221714)
2002
41
Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome. (12015302)
2002
42
Saethre-Chotzen syndrome presenting with incomplete renal Fanconi syndrome. (12218332)
2002
43
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. (11977182)
2002
44
Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation. (11854168)
2002
45
A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation. (11772178)
2002
46
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. (11248247)
2001
47
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis. (11280946)
2001
48
Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome. (11342579)
2001
49
Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene. (11746028)
2001
50
Saethre-Chotzen syndrome: review of the literature and report of a case. (11314068)
2000

Variations for Saethre-Chotzen Syndrome

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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)SNVPathogenicrs104894057GRCh38Chr 7, 19116966: 19116966
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 DUPduplicationPathogenic
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 22)
idSuper pathwaysScoreTop Affiliating Genes
19.7FGFR1, FGFR2, FGFR3
2
Show member pathways
9.7FGFR1, FGFR2, FGFR3
39.7FGFR1, FGFR2, FGFR3
49.7FGFR1, FGFR2, FGFR3
59.7FGFR1, FGFR3, RUNX2
69.6BGLAP, IBSP
79.5BGLAP, RUNX2, TWIST1
89.3BGLAP, IBSP, RUNX2
99.3CBL, FGFR1, FGFR2, FGFR3
10
Show member pathways
9.3CBL, FGFR1, FGFR2, FGFR3
119.3CBL, FGFR1, FGFR2, FGFR3
12
Show member pathways
9.3CBL, FGFR1, FGFR2, FGFR3
13
Show member pathways
9.3CBL, FGFR1, FGFR2, FGFR3
149.3CBL, FGFR1, TWIST1, TWIST2
159.2FGFR1, FGFR2, FGFR3, MSX2, TWIST1
168.9ALPP, BGLAP, MSX2, RUNX2
17
Show member pathways
8.9CASP8, FGFR1, FGFR2, FGFR3
188.8BGLAP, CBL, FGFR1, FGFR2, RUNX2
198.7COL1A2, FGFR1, FGFR2, FGFR3, IBSP
208.7BGLAP, COL1A2, IBSP, RUNX2
21
Show member pathways
8.6CASP2, CASP8, FGFR1, FGFR2, FGFR3
228.5CASP8, CBL, FGFR1, FGFR2, FGFR3

GO Terms for genes affiliated with Saethre-Chotzen Syndrome

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

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1cardiac neural crest cell development involved in outflow tract morphogenesisGO:006130910.8HAND2, TWIST1
2cardiac neural crest cell migration involved in outflow tract morphogenesisGO:000325310.8HAND2, TWIST1
3branching involved in salivary gland morphogenesisGO:006044510.7FGFR1, FGFR2
4fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.7FGFR1, FGFR2
5lung-associated mesenchyme developmentGO:006048410.7FGFR1, FGFR2
6mesenchymal cell differentiationGO:004876210.7FGFR1, FGFR2
7cranial suture morphogenesisGO:006036310.7MSX2, TWIST1
8orbitofrontal cortex developmentGO:002176910.7FGFR1, FGFR2
9outer ear morphogenesisGO:004247310.7FGFR1, TWIST1
10positive regulation of transcription regulatory region DNA bindingGO:200067910.6HAND2, TWIST1
11chondrocyte developmentGO:000206310.6MSX2, RUNX2
12positive regulation of cardiac muscle cell proliferationGO:006004510.6FGFR1, FGFR2
13regulation of fibroblast growth factor receptor signaling pathwayGO:004003610.6FGFR2, RUNX2
14regulation of osteoblast differentiationGO:004566710.6FGFR2, RUNX2
15outflow tract septum morphogenesisGO:000314810.6FGFR2, MSX2
16embryonic cranial skeleton morphogenesisGO:004870110.5FGFR2, RUNX2, TWIST1
17bone morphogenesisGO:006034910.4FGFR2, FGFR3, MSX2
18chondrocyte differentiationGO:000206210.4FGFR1, FGFR3, RUNX2
19embryonic digit morphogenesisGO:004273310.4HAND2, MSX2, TWIST1
20endochondral bone growthGO:000341610.4FGFR2, FGFR3, MSX2
21embryonic forelimb morphogenesisGO:003511510.4MSX2, RUNX2, TWIST1
22negative regulation of osteoblast differentiationGO:004566810.4HAND2, TWIST1, TWIST2
23phosphatidylinositol phosphorylationGO:004685410.4FGFR1, FGFR2, FGFR3
24phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.4FGFR1, FGFR2, FGFR3
25embryonic limb morphogenesisGO:003032610.4FGFR1, MSX2, TWIST1
26phosphatidylinositol-mediated signalingGO:004801510.4FGFR1, FGFR2, FGFR3
27regulation of bone mineralizationGO:003050010.4BGLAP, TWIST1
28positive regulation of MAPK cascadeGO:004341010.4FGFR1, FGFR2, FGFR3
29positive regulation of phospholipase activityGO:001051810.4FGFR1, FGFR2, FGFR3
30regulation of phosphatidylinositol 3-kinase signalingGO:001406610.3FGFR1, FGFR2, FGFR3
31bone developmentGO:006034810.3BGLAP, FGFR2, TWIST1
32in utero embryonic developmentGO:000170110.2FGFR1, FGFR2, HAND2, TWIST1
33osteoblast developmentGO:000207610.1BGLAP, MSX2, RUNX2
34fibroblast growth factor receptor signaling pathwayGO:000854310.0CBL, FGFR1, FGFR2, FGFR3
35ventricular zone neuroblast divisionGO:002184710.0FGFR1, FGFR2
36bone mineralizationGO:00302829.9BGLAP, FGFR2, FGFR3, IBSP
37ossificationGO:00015039.8BGLAP, MSX2, RUNX2, TWIST1
38cellular response to growth factor stimulusGO:00713639.8BGLAP, IBSP, MSX2, TWIST1
39skeletal system morphogenesisGO:00487059.7FGFR1, FGFR2, RUNX2
40osteoblast differentiationGO:00016499.5BGLAP, IBSP, MSX2, RUNX2, TWIST1
41negative regulation of apoptotic processGO:00430669.3CASP2, CBL, HAND2, MSX2, TWIST1, TWIST2
42odontogenesisGO:00424769.3BGLAP, COL1A2, FGFR2, MSX2, TWIST1
43response to ethanolGO:00454719.1BGLAP, CASP8, CBL, FGFR2
44skeletal system developmentGO:00015019.0BGLAP, COL1A2, FGFR1, FGFR3, RUNX2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:001630310.5FGFR1, FGFR2, FGFR3
2fibroblast growth factor bindingGO:001713410.5FGFR1, FGFR2, FGFR3
3fibroblast growth factor-activated receptor activityGO:000500710.5FGFR1, FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.5FGFR1, FGFR2, FGFR3
5Ras guanyl-nucleotide exchange factor activityGO:000508810.2FGFR1, FGFR2, FGFR3
6cysteine-type endopeptidase activity involved in apoptotic processGO:009715310.1CASP2, CASP8
7cysteine-type endopeptidase activity involved in execution phase of apoptosisGO:009720010.1CASP2, CASP8
8transmembrane receptor protein tyrosine kinase activityGO:00047149.7FGFR1, FGFR2, FGFR3
9protein bindingGO:00055155.8ALPP, CASP2, CASP8, CBL, COL1A2, FGFR1

Sources for Saethre-Chotzen Syndrome

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2CDC
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