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

Aliases & Descriptions for Saethre-Chotzen Syndrome:

Name: Saethre-Chotzen Syndrome 54 12 23 50 24 25 66 29 52 14 69
Saethre-Chotzen Syndrome with Eyelid Anomalies 54 29 13
Acrocephalosyndactyly Type Iii 12 23 24
Acs3 50 25 66
Scs 50 25 66
Acrocephaly, Skull Asymmetry, and Mild Syndactyly 50 25
Acrocephalosyndactyly Type 3 50 66
Chotzen Syndrome 50 25
Acs Iii 25 66
Dysostosis Craniofacialis with Hypertelorism 25
Acrocephalosyndactyly, Type Iii 25
Acrocephalo-Syndactyly, Type 3 50
Acrocephalosyndactyly Iii 25
Sakati Syndrome 69
Acs 3 50

Characteristics:

GeneReviews:

23
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:

OMIM 54 101400
Disease Ontology 12 DOID:14768
MeSH 42 D000168
NCIt 47 C75034
UMLS 69 C0175699

Summaries for Saethre-Chotzen Syndrome

NIH Rare Diseases : 50 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 seizures, malar flattening and hypertelorism. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways/superpathways are MAPK signaling pathway and Pathways in cancer. Affiliated tissues include bone, breast and heart, and related phenotypes are cellular and growth/size/body region

Disease Ontology : 12 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 : 66 Saethre-Chotzen syndrome: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.

Description from OMIM: 101400
GeneReviews: NBK1189

Related Diseases for Saethre-Chotzen Syndrome

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)
id Related Disease Score Top Affiliating Genes
1 robinow-sorauf syndrome 29.5 ALPP BGLAP CASP2 CASP8 CBL COL1A2
2 sc phocomelia syndrome 12.3
3 saethre-chotzen syndrome, fgfr2-related 12.2
4 sickle cell anemia 12.0
5 roberts syndrome 11.7
6 syndactyly 11.2
7 baller-gerold syndrome 11.2
8 craniosynostosis 10.6
9 breast cancer 10.3
10 idiopathic recurrent and disabling cutaneous herpes 10.2 FGFR3 TWIST1
11 isolated scaphocephaly 10.2 FGFR3 TWIST1
12 phocomelia 10.2
13 pkp1-related ectodermal dysplasia/skin fragility syndrome 10.2 FGFR1 FGFR2
14 intracranial hypertension 10.2
15 synostosis 10.2
16 pfeiffer syndrome 10.2
17 cervicitis 10.2
18 scrapie 10.2
19 pitx3-related anterior segment mesenchymal dysgenesis 10.2 FGFR1 FGFR2
20 cervical spinal canal and spinal cord meningioma 10.2 FGFR2 FGFR3
21 muenke syndrome 10.2 CBL FGFR2 FGFR3
22 familial porphyria cutanea tarda 10.1 FGFR1 FGFR2 FGFR3
23 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.1 FGFR2 FGFR3
24 hartsfield syndrome 10.1 FGFR1 FGFR2 FGFR3
25 leukotriene c4 synthase deficiency 10.1 MSX2 RUNX2
26 osteoglophonic dysplasia 10.1 FGFR1 FGFR2 FGFR3
27 crouzon syndrome with acanthosis nigricans 10.1 FGFR1 FGFR2 FGFR3
28 t cell immunodeficiency primary 10.1 FGFR1 FGFR3 RUNX2
29 thanatophoric dysplasia, type i 10.1 FGFR1 FGFR2 FGFR3
30 saddan 10.1 FGFR1 FGFR2 FGFR3
31 pointer syndrome 10.1 FGFR1 FGFR2 FGFR3 TWIST1
32 scaphocephaly, maxillary retrusion, and mental retardation 10.1 FGFR1 FGFR2 FGFR3 TWIST1
33 cervical cancer, somatic 10.1 FGFR1 FGFR2 FGFR3 TWIST1
34 maroteaux stanescu cousin syndrome 10.0 ALPP BGLAP RUNX2
35 congenital adrenal hyperplasia 10.0
36 sensorineural hearing loss 10.0
37 auralcephalosyndactyly 10.0
38 fanconi syndrome 10.0
39 hyper ige syndrome 10.0
40 renal cell carcinoma 10.0
41 polydactyly 10.0
42 jackson-weiss syndrome 10.0
43 crouzon syndrome 10.0
44 neuropathy, distal hereditary motor, type iia 10.0 COL1A2 FGFR3 RUNX2
45 autosomal genetic disease 10.0 FGFR2 FGFR3 MSX2
46 acth-independent macronodular adrenal hyperplasia 10.0 ALPP BGLAP RUNX2
47 encephalopathy 10.0
48 juvenile astrocytoma 10.0 FGFR1 FGFR3 TWIST1
49 pharyngitis 10.0 BGLAP FGFR2 IBSP RUNX2
50 dressler's syndrome 10.0 MSX2 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

Symptoms by clinical synopsis from OMIM:

101400

Clinical features from OMIM:

101400

Human phenotypes related to Saethre-Chotzen Syndrome:

32 (show top 50) (show all 72)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 malar flattening 32 HP:0000272
3 hypertelorism 32 HP:0000316
4 low-set ears 32 HP:0000369
5 finger syndactyly 32 HP:0006101
6 ptosis 32 HP:0000508
7 scoliosis 32 HP:0002650
8 hyperlordosis 32 HP:0003307
9 sleep apnea 32 HP:0010535
10 narrow palate 32 HP:0000189
11 hearing impairment 32 HP:0000365
12 increased intracranial pressure 32 HP:0002516
13 depressed nasal bridge 32 HP:0005280
14 open bite 32 HP:0010807
15 microtia 32 HP:0008551
16 sensorineural hearing impairment 32 HP:0000407
17 optic atrophy 32 HP:0000648
18 short stature 32 HP:0004322
19 broad thumb 32 HP:0011304
20 brachycephaly 32 HP:0000248
21 cleft palate 32 HP:0000175
22 strabismus 32 HP:0000486
23 epicanthus 32 HP:0000286
24 abnormal form of the vertebral bodies 32 HP:0003312
25 cryptorchidism 32 HP:0000028
26 flat face 32 HP:0012368
27 migraine 32 HP:0002076
28 prominent nasal bridge 32 HP:0000426
29 intellectual disability, moderate 32 HP:0002342
30 clinodactyly of the 5th finger 32 HP:0004209
31 coronal craniosynostosis 32 HP:0004440
32 abnormality of the antihelix 32 HP:0009738
33 hypoplasia of the maxilla 32 HP:0000327
34 conductive hearing impairment 32 HP:0000405
35 brachydactyly syndrome 32 HP:0001156
36 bilateral single transverse palmar creases 32 HP:0007598
37 buphthalmos 32 HP:0000557
38 amblyopia 32 HP:0000646
39 low anterior hairline 32 HP:0000294
40 high forehead 32 HP:0000348
41 hallux valgus 32 HP:0001822
42 abnormality of pelvic girdle bone morphology 32 HP:0002644
43 radioulnar synostosis 32 HP:0002974
44 convex nasal ridge 32 HP:0000444
45 craniosynostosis 32 HP:0001363
46 breast carcinoma 32 HP:0003002
47 hypotelorism 32 HP:0000601
48 facial asymmetry 32 HP:0000324
49 triphalangeal thumb 32 HP:0001199
50 toe syndactyly 32 HP:0001770

MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

44 (show all 19)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 COL1A2 FGFR1 FGFR2 FGFR3 HAND2 RECQL4
2 growth/size/body region MP:0005378 10.32 COL1A2 FGFR1 FGFR2 FGFR3 HAND2 IBSP
3 cardiovascular system MP:0005385 10.27 CASP8 CBL COL1A2 FGFR1 FGFR2 HAND2
4 craniofacial MP:0005382 10.26 FGFR2 FGFR3 HAND2 MSX2 RECQL4 RUNX2
5 hematopoietic system MP:0005397 10.26 MSX2 RECQL4 RUNX2 TWIST2 CASP2 CASP8
6 behavior/neurological MP:0005386 10.24 CBL COL1A2 FGFR1 FGFR2 FGFR3 HAND2
7 immune system MP:0005387 10.23 CASP2 CASP8 CBL FGFR1 FGFR2 FGFR3
8 endocrine/exocrine gland MP:0005379 10.22 CASP2 CASP8 CBL FGFR1 FGFR2 HAND2
9 digestive/alimentary MP:0005381 10.2 FGFR1 FGFR2 FGFR3 HAND2 MSX2 RECQL4
10 limbs/digits/tail MP:0005371 10.18 CBL COL1A2 FGFR1 FGFR2 FGFR3 HAND2
11 integument MP:0010771 10.13 CASP8 CBL COL1A2 FGFR1 FGFR2 FGFR3
12 mortality/aging MP:0010768 10.13 CBL COL1A2 FGFR1 FGFR2 FGFR3 HAND2
13 embryo MP:0005380 10.08 FGFR1 FGFR2 HAND2 MSX2 RECQL4 TWIST1
14 hearing/vestibular/ear MP:0005377 10.04 CBL FGFR1 FGFR2 FGFR3 HAND2 MSX2
15 muscle MP:0005369 9.96 TWIST1 TWIST2 CASP8 CBL COL1A2 FGFR1
16 liver/biliary system MP:0005370 9.85 FGFR2 HAND2 RUNX2 TWIST2 CASP8 CBL
17 nervous system MP:0003631 9.81 MSX2 RUNX2 TWIST1 CASP2 CASP8 FGFR1
18 skeleton MP:0005390 9.73 CBL COL1A2 FGFR1 FGFR2 FGFR3 HAND2
19 vision/eye MP:0005391 9.17 FGFR1 FGFR2 FGFR3 MSX2 RECQL4 RUNX2

Drugs & Therapeutics for Saethre-Chotzen Syndrome

Search Clinical Trials , NIH Clinical Center for Saethre-Chotzen Syndrome

Genetic Tests for Saethre-Chotzen Syndrome

Genetic tests related to Saethre-Chotzen Syndrome:

id Genetic test Affiliating Genes
1 Saethre-Chotzen Syndrome 29 24 TWIST1
2 Saethre-Chotzen Syndrome with Eyelid Anomalies 29

Anatomical Context for Saethre-Chotzen Syndrome

MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

39
Bone, Breast, Heart, Neutrophil

The Foundational Model of Anatomy Ontology organs/tissues related to Saethre-Chotzen Syndrome:

18
Skull

Publications for Saethre-Chotzen Syndrome

Articles related to Saethre-Chotzen Syndrome:

(show top 50) (show all 95)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 TWIST1 p.Gln119Pro VAR_004495 rs104894057
2 TWIST1 p.Leu131Pro VAR_004496 rs121909189
3 TWIST1 p.Ile156Val VAR_015219 rs104894059

ClinVar genetic disease variations for Saethre-Chotzen Syndrome:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 TWIST1 NM_000474.3(TWIST1): c.356A> C (p.Gln119Pro) single nucleotide variant Pathogenic rs104894057 GRCh38 Chromosome 7, 19116966: 19116966
2 TWIST1 NM_000474.3(TWIST1): c.308dupA (p.Tyr103Terfs) duplication Pathogenic rs121909186 GRCh37 Chromosome 7, 19156637: 19156637
3 TWIST1 NM_000474.3(TWIST1): c.309C> A (p.Tyr103Ter) single nucleotide variant Pathogenic rs104894054 GRCh37 Chromosome 7, 19156636: 19156636
4 TWIST1 NM_000474.3(TWIST1): c.368C> A (p.Ser123Ter) single nucleotide variant Pathogenic rs121909187 GRCh37 Chromosome 7, 19156577: 19156577
5 TWIST1 NM_000474.3(TWIST1): c.376G> T (p.Glu126Ter) single nucleotide variant Pathogenic rs121909188 GRCh37 Chromosome 7, 19156569: 19156569
6 TWIST1 NM_000474.3(TWIST1): c.392T> C (p.Leu131Pro) single nucleotide variant Pathogenic rs121909189 GRCh37 Chromosome 7, 19156553: 19156553
7 TWIST1 TWIST1, 21-BP DUP duplication Pathogenic
8 TWIST1 NM_000474.3(TWIST1): c.541G> T (p.Glu181Ter) single nucleotide variant Pathogenic rs104894058 GRCh37 Chromosome 7, 19156404: 19156404
9 TWIST1 NM_000474.3(TWIST1): c.466A> G (p.Ile156Val) single nucleotide variant Pathogenic rs104894059 GRCh37 Chromosome 7, 19156479: 19156479
10 TWIST1 NM_000474.3(TWIST1): c.82C> T (p.Gln28Ter) single nucleotide variant Pathogenic rs104894055 GRCh37 Chromosome 7, 19156863: 19156863
11 FGFR2 NM_000141.4(FGFR2): c.804_809delAGTGGT (p.Val269_Val270del) deletion Pathogenic rs879253718 GRCh37 Chromosome 10, 123279623: 123279628
12 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571

Expression for Saethre-Chotzen Syndrome

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

Pathways for Saethre-Chotzen Syndrome

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

(show all 22)
id Super pathways Score Top Affiliating Genes
1 12.52 CASP2 CASP8 FGFR1 FGFR2 FGFR3
2 12.47 CASP8 CBL FGFR1 FGFR2 FGFR3
3
Show member pathways
12.42 CBL FGFR1 FGFR2 FGFR3
4 12.3 COL1A2 FGFR1 FGFR2 FGFR3 IBSP
5
Show member pathways
12.29 CBL FGFR1 FGFR2 FGFR3
6
Show member pathways
12.28 CASP8 FGFR1 FGFR2 FGFR3
7 12.13 CBL FGFR1 TWIST1 TWIST2
8
Show member pathways
12.1 CBL FGFR1 FGFR2 FGFR3
9 11.92 FGFR1 FGFR2 FGFR3
10 11.77 CBL FGFR1 FGFR2 FGFR3
11 11.68 FGFR1 FGFR2 FGFR3
12 11.58 CBL FGFR1 FGFR2 FGFR3
13 11.54 FGFR1 FGFR2 FGFR3
14 11.54 ALPP BGLAP MSX2 RUNX2
15 11.53 FGFR1 FGFR3 RUNX2
16 11.36 FGFR1 FGFR2 FGFR3 MSX2 TWIST1
17 11.31 BGLAP RUNX2 TWIST1
18 11.26 FGFR1 FGFR2 FGFR3
19 11.22 BGLAP IBSP RUNX2
20 11.05 BGLAP COL1A2 IBSP RUNX2
21 10.73 BGLAP IBSP
22 10.69 BGLAP CBL FGFR1 FGFR2 RUNX2

GO Terms for Saethre-Chotzen Syndrome

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

(show all 44)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.97 CASP2 CBL HAND2 MSX2 TWIST1 TWIST2
2 in utero embryonic development GO:0001701 9.94 FGFR1 FGFR2 HAND2 TWIST1
3 phosphatidylinositol-mediated signaling GO:0048015 9.86 FGFR1 FGFR2 FGFR3
4 phosphatidylinositol phosphorylation GO:0046854 9.85 FGFR1 FGFR2 FGFR3
5 positive regulation of MAPK cascade GO:0043410 9.84 FGFR1 FGFR2 FGFR3
6 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.84 FGFR1 FGFR2 FGFR3
7 response to ethanol GO:0045471 9.84 BGLAP CASP8 CBL FGFR2
8 embryonic digit morphogenesis GO:0042733 9.81 HAND2 MSX2 TWIST1
9 embryonic limb morphogenesis GO:0030326 9.8 FGFR1 MSX2 TWIST1
10 bone development GO:0060348 9.8 BGLAP FGFR2 TWIST1
11 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.79 FGFR1 FGFR2 FGFR3
12 ossification GO:0001503 9.78 BGLAP MSX2 RUNX2 TWIST1
13 skeletal system morphogenesis GO:0048705 9.77 FGFR1 FGFR2 RUNX2
14 skeletal system development GO:0001501 9.77 BGLAP COL1A2 FGFR1 FGFR3 RUNX2
15 negative regulation of osteoblast differentiation GO:0045668 9.76 HAND2 TWIST1 TWIST2
16 fibroblast growth factor receptor signaling pathway GO:0008543 9.76 CBL FGFR1 FGFR2 FGFR3
17 chondrocyte differentiation GO:0002062 9.75 FGFR1 FGFR3 RUNX2
18 embryonic cranial skeleton morphogenesis GO:0048701 9.73 FGFR2 RUNX2 TWIST1
19 embryonic forelimb morphogenesis GO:0035115 9.72 MSX2 RUNX2 TWIST1
20 cellular response to growth factor stimulus GO:0071363 9.71 BGLAP IBSP MSX2 TWIST1
21 bone morphogenesis GO:0060349 9.7 FGFR2 FGFR3 MSX2
22 outflow tract septum morphogenesis GO:0003148 9.69 FGFR2 MSX2
23 positive regulation of cardiac muscle cell proliferation GO:0060045 9.69 FGFR1 FGFR2
24 regulation of bone mineralization GO:0030500 9.69 BGLAP TWIST1
25 chondrocyte development GO:0002063 9.68 MSX2 RUNX2
26 positive regulation of transcription regulatory region DNA binding GO:2000679 9.68 HAND2 TWIST1
27 regulation of osteoblast differentiation GO:0045667 9.67 FGFR2 RUNX2
28 branching involved in salivary gland morphogenesis GO:0060445 9.67 FGFR1 FGFR2
29 lung-associated mesenchyme development GO:0060484 9.66 FGFR1 FGFR2
30 mesenchymal cell differentiation GO:0048762 9.65 FGFR1 FGFR2
31 outer ear morphogenesis GO:0042473 9.65 FGFR1 TWIST1
32 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.65 FGFR2 RUNX2
33 cranial suture morphogenesis GO:0060363 9.63 MSX2 TWIST1
34 orbitofrontal cortex development GO:0021769 9.61 FGFR1 FGFR2
35 cardiac neural crest cell development involved in outflow tract morphogenesis GO:0061309 9.61 HAND2 TWIST1
36 osteoblast development GO:0002076 9.61 BGLAP MSX2 RUNX2
37 cardiac neural crest cell migration involved in outflow tract morphogenesis GO:0003253 9.6 HAND2 TWIST1
38 ventricular zone neuroblast division GO:0021847 9.57 FGFR1 FGFR2
39 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.51 FGFR1 FGFR2
40 positive regulation of phospholipase activity GO:0010518 9.5 FGFR1 FGFR2 FGFR3
41 bone mineralization GO:0030282 9.46 BGLAP FGFR2 FGFR3 IBSP
42 endochondral bone growth GO:0003416 9.43 FGFR2 FGFR3 MSX2
43 osteoblast differentiation GO:0001649 9.35 BGLAP IBSP MSX2 RUNX2 TWIST1
44 odontogenesis GO:0042476 9.02 BGLAP COL1A2 FGFR2 MSX2 TWIST1

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

id Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.61 FGFR1 FGFR2 FGFR3
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGFR1 FGFR2 FGFR3
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR1 FGFR2 FGFR3
4 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.4 CASP2 CASP8
5 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.37 CASP2 CASP8
6 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR1 FGFR2 FGFR3
7 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
8 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3
9 protein binding GO:0005515 10.3 ALPP CASP2 CASP8 CBL COL1A2 FGFR1

Sources for Saethre-Chotzen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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