MCID: STH001
MIFTS: 64

Saethre-Chotzen Syndrome

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

Aliases & Classifications for Saethre-Chotzen Syndrome

MalaCards integrated aliases for Saethre-Chotzen Syndrome:

Name: Saethre-Chotzen Syndrome 53 12 23 49 24 71 36 28 51 69 14
Acs3 53 49 24 71
Scs 53 49 24 71
Acrocephaly, Skull Asymmetry, and Mild Syndactyly 53 49 24
Chotzen Syndrome 53 49 24
Acs Iii 53 24 71
Acrocephalosyndactyly, Type Iii 53 24
Acrocephalosyndactyly Type Iii 12 23
Acrocephalosyndactyly Type 3 49 71
Saethre-Chotzen Syndrome with or Without Eyelid Anomalies 53
Dysostosis Craniofacialis with Hypertelorism 24
Acrocephalosyndactyly, Type Iii; Acs3 53
Acrocephalo-Syndactyly, Type 3 49
Acrocephalosyndactyly Iii 24
Sakati Syndrome 69
Acs 3 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
few patients with mild to moderate mental retardation
variable expressivity
incidence of 1 in 25,000 to 1 in 50,000 newborns
phenotypic overlap with muenke syndrome due to a mutation in the fgfr3 gene (p250r, )


HPO:

31
saethre-chotzen syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


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:



Summaries for Saethre-Chotzen Syndrome

NIH Rare Diseases : 49 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 acs3, is related to jackson-weiss syndrome and parietal foramina, 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 PI3K-Akt signaling pathway and Pathways in cancer. The drugs Ticagrelor and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and neutrophil, and related phenotypes are cellular and growth/size/body region

OMIM : 53 Saethre-Chotzen syndrome is characterized by craniosynostosis, facial dysmorphism, and hand and foot abnormalities. Coronal synostosis resulting in brachycephaly is the most frequent cranial abnormality observed, and the most common facial features are asymmetry, hypertelorism, and maxillary hypoplasia. Other features include high forehead, low frontal hairline, late-closing fontanel, strabismus, ptosis, lacrimal duct stenosis, deviated nasal septum, small low-set posteriorly rotated ears with prominent crus, and hearing loss. The limb anomalies consist of radioulnar synostosis, brachydactyly, cutaneous syndactyly, and hallux valgus. Patients also exhibit short stature and vertebral fusion, and mild to moderate mental retardation has been noted in some cases. Inter- and intrafamilial variability is significant, with some patients having fusion of other sutures, or no apparent craniosynostosis but abnormal skull morphology. The degree of syndactyly is also variable, and digital abnormalities can be absent (Jabs, 2008). (101400)

UniProtKB/Swiss-Prot : 71 Saethre-Chotzen syndrome: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.

Genetics Home Reference : 24 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.

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.

GeneReviews: NBK1189

Related Diseases for Saethre-Chotzen Syndrome

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 jackson-weiss syndrome 30.3 FGFR1 FGFR2 FGFR3
2 parietal foramina 30.0 MSX2 RECQL4 RUNX2 TWIST1
3 pfeiffer syndrome 30.0 FGFR1 FGFR2 FGFR3 RUNX2 TWIST1
4 crouzon syndrome 29.4 FGFR1 FGFR2 FGFR3 MSX2
5 synostosis 29.4 FGFR1 FGFR2 FGFR3 MSX2 TWIST1
6 craniosynostosis 29.3 FGFR1 FGFR2 FGFR3 MSX2 RECQL4 RUNX2
7 sc phocomelia syndrome 12.4
8 sickle cell anemia 12.1
9 sc(1) trait of saliva 11.9
10 roberts syndrome 11.8
11 robinow-sorauf syndrome 11.6
12 baller-gerold syndrome 11.4
13 chromosome 2q35 duplication syndrome 11.3
14 gorlin-chaudhry-moss syndrome 11.3
15 isolated brachycephaly 10.5 FGFR3 TWIST1
16 isolated plagiocephaly 10.5 FGFR3 TWIST1
17 luteoma 10.4 FGFR2 FGFR3
18 beare-stevenson cutis gyrata syndrome 10.4 FGFR2 FGFR3
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
20 cervicitis 10.3
21 intracranial hypertension 10.3
22 thanatophoric dysplasia, type i 10.2 CBL FGFR2 FGFR3
23 dysostosis 10.2 FGFR2 FGFR3 RUNX2
24 alveolar periostitis 10.1 BGLAP RUNX2
25 ossification of the posterior longitudinal ligament of spine 10.1 BGLAP RUNX2
26 aurocephalosyndactyly 10.1
27 blood group, i system 10.1
28 breast cancer 10.1
29 renal cell carcinoma, nonpapillary 10.1
30 lipoid congenital adrenal hyperplasia 10.1
31 popliteal pterygium syndrome, lethal type 10.1
32 polydactyly 10.1
33 sensorineural hearing loss 10.1
34 fanconi syndrome 10.1
35 hyper ige syndrome 10.1
36 spondyloepiphyseal dysplasia congenita 10.1 COL1A2 FGFR3 RUNX2
37 osteogenesis imperfecta, type vi 10.1 COL1A2 IBSP
38 osteoglophonic dysplasia 10.1 FGFR1 FGFR2 FGFR3
39 hypochondroplasia 10.0 FGFR1 FGFR2 FGFR3
40 synovial chondromatosis 10.0 FGFR1 FGFR3 RUNX2
41 lacrimoauriculodentodigital syndrome 10.0 FGFR1 FGFR2 FGFR3
42 achondroplasia 10.0 FGFR1 FGFR2 FGFR3
43 parietal foramina with cleidocranial dysplasia 10.0 MSX2 RUNX2
44 gliosarcoma 10.0 FGFR1 FGFR3 TWIST1
45 lung squamous cell carcinoma 10.0 FGFR1 FGFR2 FGFR3
46 osseous heteroplasia, progressive 10.0 ALPP BGLAP RUNX2
47 plagiocephaly 9.9 FGFR1 FGFR2 FGFR3 TWIST1
48 osteogenesis imperfecta, type i 9.9 BGLAP COL1A2 FGFR3
49 apert syndrome 9.9 FGFR1 FGFR2 FGFR3 TWIST1
50 muenke syndrome 9.9 FGFR1 FGFR2 FGFR3 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 via clinical synopsis from OMIM:

53
HeadAndNeckEyes:
hypertelorism
ptosis
strabismus
buphthalmos
shallow orbits
more
HeadAndNeckMouth:
narrow palate
cleft palate

HeadAndNeckHead:
brachycephaly
acrocephaly

SkeletalHands:
brachydactyly
syndactyly, mild (often 2nd-3rd fingers)
bifid terminal phalanges (digits 2 and 3)
fifth finger clinodactyly

SkeletalLimbs:
radioulnar synostosis

CardiovascularHeart:
congenital heart defect

CardiovascularVascular:
intracranial hypertension due to multisutural cranial fusion

Neoplasia:
increased risk of breast cancer in women

HeadAndNeckEars:
low-set ears
long and prominent ear crus
small ears
apical cartilage deformity
deafness

GrowthHeight:
short stature

HeadAndNeckFace:
flat face
facial asymmetry
maxillary hypoplasia
high, flat forehead
low frontal hairline

SkeletalFeet:
hallux valgus
absent first metatarsal
syndactyly (often 3rd-4th toes)

SkeletalSkull:
parietal foramina
acrocephaly
late closing fontanelles
craniosynostosis of coronal, lambdoid, and/or metopic sutures

HeadAndNeckNose:
thin, long, pointed nose
beaked nose

SkeletalPelvis:
small ilia
large ischia


Clinical features from OMIM:

101400

Human phenotypes related to Saethre-Chotzen Syndrome:

31 (show top 50) (show all 72)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 malar flattening 31 HP:0000272
3 hypertelorism 31 frequent (33%) HP:0000316
4 low-set ears 31 occasional (7.5%) HP:0000369
5 finger syndactyly 31 hallmark (90%) HP:0006101
6 ptosis 31 frequent (33%) HP:0000508
7 scoliosis 31 occasional (7.5%) HP:0002650
8 hyperlordosis 31 frequent (33%) HP:0003307
9 sleep apnea 31 occasional (7.5%) HP:0010535
10 narrow palate 31 frequent (33%) HP:0000189
11 hearing impairment 31 HP:0000365
12 increased intracranial pressure 31 occasional (7.5%) HP:0002516
13 depressed nasal bridge 31 frequent (33%) HP:0005280
14 open bite 31 frequent (33%) HP:0010807
15 microtia 31 frequent (33%) HP:0008551
16 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
17 optic atrophy 31 occasional (7.5%) HP:0000648
18 short stature 31 occasional (7.5%) HP:0004322
19 broad thumb 31 occasional (7.5%) HP:0011304
20 brachycephaly 31 frequent (33%) HP:0000248
21 cleft palate 31 occasional (7.5%) HP:0000175
22 strabismus 31 frequent (33%) HP:0000486
23 epicanthus 31 occasional (7.5%) HP:0000286
24 abnormal form of the vertebral bodies 31 occasional (7.5%) HP:0003312
25 cryptorchidism 31 occasional (7.5%) HP:0000028
26 flat face 31 HP:0012368
27 external ear malformation 31 frequent (33%) HP:0008572
28 migraine 31 occasional (7.5%) HP:0002076
29 prominent nasal bridge 31 frequent (33%) HP:0000426
30 intellectual disability, moderate 31 occasional (7.5%) HP:0002342
31 clinodactyly of the 5th finger 31 hallmark (90%) HP:0004209
32 coronal craniosynostosis 31 HP:0004440
33 abnormality of the antihelix 31 frequent (33%) HP:0009738
34 hypoplasia of the maxilla 31 occasional (7.5%) HP:0000327
35 conductive hearing impairment 31 occasional (7.5%) HP:0000405
36 brachydactyly 31 frequent (33%) HP:0001156
37 bilateral single transverse palmar creases 31 frequent (33%) HP:0007598
38 buphthalmos 31 HP:0000557
39 amblyopia 31 occasional (7.5%) HP:0000646
40 low anterior hairline 31 frequent (33%) HP:0000294
41 high forehead 31 hallmark (90%) HP:0000348
42 hallux valgus 31 occasional (7.5%) HP:0001822
43 abnormality of pelvic girdle bone morphology 31 HP:0002644
44 radioulnar synostosis 31 HP:0002974
45 convex nasal ridge 31 frequent (33%) HP:0000444
46 craniosynostosis 31 hallmark (90%) HP:0001363
47 breast carcinoma 31 HP:0003002
48 hypotelorism 31 occasional (7.5%) HP:0000601
49 facial asymmetry 31 hallmark (90%) HP:0000324
50 triphalangeal thumb 31 occasional (7.5%) HP:0001199

MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

43 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 FGFR1 CBL CASP2 COL1A2 CASP8 FGFR3
2 growth/size/body region MP:0005378 10.31 CBL COL1A2 CASP8 FGFR1 FGFR3 IBSP
3 craniofacial MP:0005382 10.29 FGFR1 CBL FGFR3 IBSP FGFR2 HAND2
4 behavior/neurological MP:0005386 10.27 FGFR1 CBL COL1A2 FGFR3 FGFR2 HAND2
5 cardiovascular system MP:0005385 10.27 FGFR1 CBL COL1A2 CASP8 FGFR2 HAND2
6 digestive/alimentary MP:0005381 10.24 FGFR1 FGFR3 IBSP FGFR2 HAND2 RECQL4
7 hematopoietic system MP:0005397 10.23 CBL CASP2 CASP8 FGFR1 FGFR3 IBSP
8 endocrine/exocrine gland MP:0005379 10.21 FGFR1 CBL CASP2 CASP8 FGFR2 HAND2
9 immune system MP:0005387 10.21 FGFR1 CBL CASP2 CASP8 FGFR3 FGFR2
10 limbs/digits/tail MP:0005371 10.15 COL1A2 FGFR1 CBL FGFR3 IBSP FGFR2
11 mortality/aging MP:0010768 10.13 FGFR1 CBL CASP2 COL1A2 CASP8 FGFR3
12 integument MP:0010771 10.1 CBL COL1A2 CASP8 FGFR1 FGFR3 FGFR2
13 embryo MP:0005380 10.07 CASP8 FGFR1 FGFR2 HAND2 RECQL4 MSX2
14 hearing/vestibular/ear MP:0005377 10.02 FGFR1 CBL FGFR3 FGFR2 HAND2 MSX2
15 muscle MP:0005369 9.96 CBL COL1A2 CASP8 FGFR1 FGFR2 HAND2
16 nervous system MP:0003631 9.81 CASP2 CASP8 HAND2 FGFR1 FGFR3 FGFR2
17 skeleton MP:0005390 9.73 COL1A2 FGFR1 CBL FGFR3 IBSP FGFR2
18 vision/eye MP:0005391 9.17 FGFR1 FGFR3 FGFR2 RECQL4 MSX2 RUNX2

Drugs & Therapeutics for Saethre-Chotzen Syndrome

Drugs for Saethre-Chotzen Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ticagrelor Approved Phase 4 274693-27-5 9871419
2 Neurotransmitter Agents Phase 4
3 Purinergic P2 Receptor Antagonists Phase 4
4 Purinergic P2Y Receptor Antagonists Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Low-dose Ticagrelor in Chinese ACS Patients Undergoing PCI Recruiting NCT03381755 Phase 4 half-dose ticagrelor;standard-dose ticagrelor

Search NIH Clinical Center for Saethre-Chotzen Syndrome

Genetic Tests for Saethre-Chotzen Syndrome

Genetic tests related to Saethre-Chotzen Syndrome:

# Genetic test Affiliating Genes
1 Saethre-Chotzen Syndrome 28 FGFR2 TWIST1

Anatomical Context for Saethre-Chotzen Syndrome

MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

38
Bone, 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)
# 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
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
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
8
Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome. ( 22569119 )
2012
9
Interrelationship of cranial suture fusion, basicranial development, and resynostosis following suturectomy in twist1(+/-) mice, a murine model of Saethre-Chotzen syndrome. ( 22903506 )
2012
10
Prenatal sonographic diagnosis of familial Saethre-Chotzen syndrome. ( 21357567 )
2011
11
Audiologic findings in Saethre-Chotzen syndrome. ( 21532428 )
2011
12
Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. ( 20184424 )
2010
13
Saethre-Chotzen syndrome: a case report. ( 19860490 )
2010
14
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. ( 19373776 )
2009
15
The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. ( 19952666 )
2009
16
The frequency of palatal anomalies in Saethre-Chotzen syndrome. ( 19642760 )
2009
17
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. ( 19483581 )
2009
18
Discussion. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. ( 19483582 )
2009
19
Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer. ( 19025794 )
2009
20
Psychiatric comorbidity in a girl with Saethre-Chotzen syndrome. ( 18797404 )
2008
21
Anesthesia in a child with Saethre-Chotzen syndrome. ( 18095973 )
2008
22
Saethre-Chotzen syndrome and anesthesia. ( 18950351 )
2008
23
Women with Saethre-Chotzen syndrome are at increased risk of breast cancer. ( 17437280 )
2007
24
Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter. ( 18019370 )
2007
25
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. ( 16526917 )
2006
26
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. ( 16251895 )
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
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma. ( 17074596 )
2006
29
Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome. ( 15802514 )
2005
30
Saethre-Chotzen syndrome: a case report. ( 16503569 )
2005
31
A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome. ( 15829502 )
2005
32
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. ( 15923834 )
2005
33
In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome. ( 15781003 )
2005
34
Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities. ( 15735646 )
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
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. ( 12612814 )
2003
38
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. ( 14513358 )
2003
39
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. ( 12791045 )
2003
40
Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. ( 12221714 )
2002
41
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. ( 11977182 )
2002
42
Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome. ( 12015302 )
2002
43
Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation. ( 11854168 )
2002
44
Saethre-Chotzen syndrome presenting with incomplete renal Fanconi syndrome. ( 12218332 )
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:

71
# 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 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWIST1 NM_000474.3(TWIST1): c.308_309insA (p.Tyr103Terfs) insertion Pathogenic rs121909186 GRCh37 Chromosome 7, 19156637: 19156637
2 TWIST1 NM_000474.3(TWIST1): c.356A> C (p.Gln119Pro) single nucleotide variant Pathogenic rs104894057 GRCh37 Chromosome 7, 19156589: 19156589
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 FGFR2 NM_000141.4(FGFR2): c.804_809delAGTGGT (p.Val269_Val270del) deletion Pathogenic rs879253718 GRCh37 Chromosome 10, 123279623: 123279628
11 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
12 TWIST1 NC_000007.14: g.(?_19116693)_(19117341_?)del deletion Pathogenic GRCh38 Chromosome 7, 19116693: 19117341
13 TWIST1 NM_000474.3(TWIST1) duplication Pathogenic GRCh37 Chromosome 7, 19156528: 19156548

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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 CASP8 COL1A2 FGFR1 FGFR2 FGFR3 IBSP
2 12.68 CASP8 CBL FGFR1 FGFR2 FGFR3
3 12.58 CASP2 CASP8 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.42 CBL FGFR1 FGFR2 FGFR3
5
Show member pathways
12.3 CBL FGFR1 FGFR2 FGFR3
6
Show member pathways
12.29 CASP8 FGFR1 FGFR2 FGFR3
7 12.12 CBL FGFR1 TWIST1 TWIST2
8
Show member pathways
12.08 CBL FGFR1 FGFR2 FGFR3
9 11.93 FGFR1 FGFR2 FGFR3
10 11.79 CBL FGFR1 FGFR2 FGFR3
11 11.7 FGFR1 FGFR2 FGFR3
12 11.54 FGFR1 FGFR2 FGFR3
13 11.54 ALPP BGLAP MSX2 RUNX2
14 11.53 FGFR1 FGFR3 RUNX2
15 11.36 FGFR1 FGFR2 FGFR3 MSX2 TWIST1
16 11.33 BGLAP RUNX2 TWIST1
17 11.29 FGFR1 FGFR2 FGFR3
18 11.26 FGFR1 FGFR2 FGFR3 HAND2
19 11.25 BGLAP IBSP RUNX2
20 11.17 FGFR1 FGFR2 FGFR3
21 11.05 BGLAP COL1A2 IBSP RUNX2
22 10.74 BGLAP IBSP
23 10.69 BGLAP CBL FGFR1 FGFR2 RUNX2

GO Terms for Saethre-Chotzen Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.4 CASP2 CASP8 CBL FGFR1 FGFR2 FGFR3

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

(show all 40)
# 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 phosphorylation GO:0046854 9.85 FGFR1 FGFR2 FGFR3
4 positive regulation of MAPK cascade GO:0043410 9.84 FGFR1 FGFR2 FGFR3
5 response to ethanol GO:0045471 9.83 BGLAP CASP8 CBL FGFR2
6 embryonic digit morphogenesis GO:0042733 9.82 HAND2 MSX2 TWIST1
7 bone development GO:0060348 9.8 BGLAP FGFR2 TWIST1
8 embryonic limb morphogenesis GO:0030326 9.8 FGFR1 MSX2 TWIST1
9 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.79 FGFR1 FGFR2 FGFR3
10 ossification GO:0001503 9.78 BGLAP MSX2 RUNX2 TWIST1
11 negative regulation of osteoblast differentiation GO:0045668 9.77 HAND2 TWIST1 TWIST2
12 skeletal system development GO:0001501 9.77 BGLAP COL1A2 FGFR1 FGFR3 RUNX2
13 skeletal system morphogenesis GO:0048705 9.76 FGFR1 FGFR2 RUNX2
14 fibroblast growth factor receptor signaling pathway GO:0008543 9.76 CBL FGFR1 FGFR2 FGFR3
15 chondrocyte differentiation GO:0002062 9.75 FGFR1 FGFR3 RUNX2
16 embryonic cranial skeleton morphogenesis GO:0048701 9.73 FGFR2 RUNX2 TWIST1
17 embryonic forelimb morphogenesis GO:0035115 9.72 MSX2 RUNX2 TWIST1
18 bone morphogenesis GO:0060349 9.71 FGFR2 FGFR3 MSX2
19 cellular response to growth factor stimulus GO:0071363 9.71 BGLAP IBSP MSX2 TWIST1
20 regulation of bone mineralization GO:0030500 9.68 BGLAP TWIST1
21 chondrocyte development GO:0002063 9.68 MSX2 RUNX2
22 positive regulation of transcription regulatory region DNA binding GO:2000679 9.68 HAND2 TWIST1
23 regulation of osteoblast differentiation GO:0045667 9.67 FGFR2 RUNX2
24 branching involved in salivary gland morphogenesis GO:0060445 9.66 FGFR1 FGFR2
25 mesenchymal cell differentiation GO:0048762 9.66 FGFR1 FGFR2
26 outer ear morphogenesis GO:0042473 9.65 FGFR1 TWIST1
27 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.65 FGFR2 RUNX2
28 lung-associated mesenchyme development GO:0060484 9.65 FGFR1 FGFR2
29 cranial suture morphogenesis GO:0060363 9.63 MSX2 TWIST1
30 cardiac neural crest cell migration involved in outflow tract morphogenesis GO:0003253 9.61 HAND2 TWIST1
31 cardiac neural crest cell development involved in outflow tract morphogenesis GO:0061309 9.61 HAND2 TWIST1
32 osteoblast development GO:0002076 9.61 BGLAP MSX2 RUNX2
33 orbitofrontal cortex development GO:0021769 9.6 FGFR1 FGFR2
34 ventricular zone neuroblast division GO:0021847 9.57 FGFR1 FGFR2
35 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.51 FGFR1 FGFR2
36 positive regulation of phospholipase activity GO:0010518 9.5 FGFR1 FGFR2 FGFR3
37 bone mineralization GO:0030282 9.46 BGLAP FGFR2 FGFR3 IBSP
38 endochondral bone growth GO:0003416 9.43 FGFR2 FGFR3 MSX2
39 osteoblast differentiation GO:0001649 9.35 BGLAP IBSP MSX2 RUNX2 TWIST1
40 odontogenesis GO:0042476 9.02 BGLAP COL1A2 FGFR2 MSX2 TWIST1

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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