SCS
MCID: STH001
MIFTS: 63

Saethre-Chotzen Syndrome (SCS)

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

Aliases & Classifications for Saethre-Chotzen Syndrome

MalaCards integrated aliases for Saethre-Chotzen Syndrome:

Name: Saethre-Chotzen Syndrome 57 12 24 53 25 75 37 29 55 6 15 73
Acs3 57 53 25 75
Scs 57 53 25 75
Acrocephaly, Skull Asymmetry, and Mild Syndactyly 57 53 25
Chotzen Syndrome 57 53 25
Acs Iii 57 25 75
Acrocephalosyndactyly, Type Iii 57 25
Acrocephalosyndactyly Type Iii 12 24
Acrocephalosyndactyly Type 3 53 75
Saethre-Chotzen Syndrome with or Without Eyelid Anomalies 57
Syndrome, Saethre-Chotzen, with/without Eyelid Anomalies 40
Dysostosis Craniofacialis with Hypertelorism 25
Acrocephalosyndactyly, Type Iii; Acs3 57
Acrocephalo-Syndactyly, Type 3 53
Acrocephalosyndactyly Iii 25
Sakati Syndrome 73
Acs 3 53

Characteristics:

OMIM:

57
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:

32
saethre-chotzen syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 : 53 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. 

MalaCards based summary : Saethre-Chotzen Syndrome, also known as acs3, is related to jackson-weiss syndrome and parietal foramina. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Pathways in cancer. The drugs Ticagrelor and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related phenotypes are malar flattening and hypertelorism

OMIM : 57 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 : 75 Saethre-Chotzen syndrome: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.

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.

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.

Wikipedia : 76 Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital... more...

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 57)
# Related Disease Score Top Affiliating Genes
1 jackson-weiss syndrome 30.3 FGFR1 FGFR2 FGFR3
2 parietal foramina 29.8 MSX2 RECQL4 RUNX2 TWIST1
3 crouzon syndrome 28.9 FGFR1 FGFR2 FGFR3 MSX2
4 pfeiffer syndrome 28.8 BGLAP FGFR1 FGFR2 FGFR3 RUNX2 TWIST1
5 synostosis 28.8 FGFR1 FGFR2 FGFR3 MSX2 TWIST1
6 craniosynostosis 28.4 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 fontaine progeroid syndrome 11.3
15 hemifacial hyperplasia 10.8 FGFR2 FGFR3
16 isolated plagiocephaly 10.8 FGFR3 TWIST1
17 isolated brachycephaly 10.7 FGFR3 TWIST1
18 luteoma 10.6 FGFR2 FGFR3
19 beare-stevenson cutis gyrata syndrome 10.6 FGFR2 FGFR3
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
21 strabismus 10.3 FGFR2 FGFR3 TWIST1
22 cervicitis 10.3
23 intracranial hypertension 10.3
24 spondyloepiphyseal dysplasia congenita 10.3 COL1A2 FGFR3 RUNX2
25 alveolar periostitis 10.1 BGLAP RUNX2
26 breast cancer 10.1
27 renal cell carcinoma, nonpapillary 10.1
28 lipoid congenital adrenal hyperplasia 10.1
29 polydactyly 10.1
30 sensorineural hearing loss 10.1
31 fanconi syndrome 10.1
32 hyper ige syndrome 10.1
33 osteoglophonic dysplasia 10.1 FGFR1 FGFR2 FGFR3
34 hypochondroplasia 10.1 FGFR1 FGFR2 FGFR3
35 synovial chondromatosis 10.0 FGFR1 FGFR3 RUNX2
36 lacrimoauriculodentodigital syndrome 10.0 FGFR1 FGFR2 FGFR3
37 achondroplasia 10.0 FGFR1 FGFR2 FGFR3
38 parietal foramina with cleidocranial dysplasia 9.9 MSX2 RUNX2
39 gliosarcoma 9.9 FGFR1 FGFR3 TWIST1
40 osteogenesis imperfecta, type i 9.9 BGLAP COL1A2 FGFR3
41 osseous heteroplasia, progressive 9.9 ALPP BGLAP RUNX2
42 dental fluorosis 9.9 BGLAP COL1A2
43 plagiocephaly 9.9 FGFR1 FGFR2 FGFR3 TWIST1
44 apert syndrome 9.9 FGFR1 FGFR2 FGFR3 TWIST1
45 ankylosis 9.8 BGLAP FGFR2 IBSP RUNX2
46 muenke syndrome 9.8 FGFR1 FGFR2 FGFR3 TWIST1
47 dystrophinopathies 9.8 CASP2 CASP8
48 brittle bone disorder 9.7 BGLAP COL1A2 FGFR3 IBSP
49 autosomal dominant disease 9.7 FGFR2 FGFR3 MSX2
50 thanatophoric dysplasia, type i 9.6 CBL FGFR1 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
buphthalmos
shallow orbits
more
Head And Neck Mouth:
narrow palate
cleft palate

Head And Neck Head:
brachycephaly
acrocephaly

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

Skeletal Limbs:
radioulnar synostosis

Cardiovascular Heart:
congenital heart defect

Cardiovascular Vascular:
intracranial hypertension due to multisutural cranial fusion

Neoplasia:
increased risk of breast cancer in women

Head And Neck Ears:
low-set ears
long and prominent ear crus
small ears
apical cartilage deformity
deafness

Growth Height:
short stature

Head And Neck Face:
flat face
facial asymmetry
maxillary hypoplasia
high, flat forehead
low frontal hairline

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

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

Head And Neck Nose:
thin, long, pointed nose
beaked nose

Skeletal Pelvis:
small ilia
large ischia


Clinical features from OMIM:

101400

Human phenotypes related to Saethre-Chotzen Syndrome:

32 (show top 50) (show all 73)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 frequent (33%) HP:0000316
3 low-set ears 32 occasional (7.5%) HP:0000369
4 finger syndactyly 32 hallmark (90%) HP:0006101
5 ptosis 32 frequent (33%) HP:0000508
6 intellectual disability 32 occasional (7.5%) HP:0001249
7 seizures 32 occasional (7.5%) HP:0001250
8 scoliosis 32 occasional (7.5%) HP:0002650
9 hyperlordosis 32 frequent (33%) HP:0003307
10 sleep apnea 32 occasional (7.5%) HP:0010535
11 narrow palate 32 frequent (33%) HP:0000189
12 hearing impairment 32 HP:0000365
13 increased intracranial pressure 32 occasional (7.5%) HP:0002516
14 depressed nasal bridge 32 frequent (33%) HP:0005280
15 open bite 32 frequent (33%) HP:0010807
16 microtia 32 frequent (33%) HP:0008551
17 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
18 optic atrophy 32 occasional (7.5%) HP:0000648
19 short stature 32 occasional (7.5%) HP:0004322
20 broad thumb 32 occasional (7.5%) HP:0011304
21 brachycephaly 32 frequent (33%) HP:0000248
22 cleft palate 32 occasional (7.5%) HP:0000175
23 strabismus 32 frequent (33%) HP:0000486
24 epicanthus 32 occasional (7.5%) HP:0000286
25 abnormal form of the vertebral bodies 32 occasional (7.5%) HP:0003312
26 cryptorchidism 32 occasional (7.5%) HP:0000028
27 flat face 32 HP:0012368
28 external ear malformation 32 frequent (33%) HP:0008572
29 migraine 32 occasional (7.5%) HP:0002076
30 prominent nasal bridge 32 frequent (33%) HP:0000426
31 intellectual disability, moderate 32 occasional (7.5%) HP:0002342
32 clinodactyly of the 5th finger 32 hallmark (90%) HP:0004209
33 coronal craniosynostosis 32 HP:0004440
34 abnormality of the antihelix 32 frequent (33%) HP:0009738
35 hypoplasia of the maxilla 32 occasional (7.5%) HP:0000327
36 conductive hearing impairment 32 occasional (7.5%) HP:0000405
37 brachydactyly 32 frequent (33%) HP:0001156
38 bilateral single transverse palmar creases 32 frequent (33%) HP:0007598
39 buphthalmos 32 HP:0000557
40 amblyopia 32 occasional (7.5%) HP:0000646
41 low anterior hairline 32 frequent (33%) HP:0000294
42 high forehead 32 hallmark (90%) HP:0000348
43 hallux valgus 32 occasional (7.5%) HP:0001822
44 abnormality of pelvic girdle bone morphology 32 HP:0002644
45 radioulnar synostosis 32 HP:0002974
46 blepharospasm 32 frequent (33%) HP:0000643
47 convex nasal ridge 32 frequent (33%) HP:0000444
48 craniosynostosis 32 hallmark (90%) HP:0001363
49 breast carcinoma 32 HP:0003002
50 hypotelorism 32 occasional (7.5%) HP:0000601

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.32 ALPP BGLAP CASP2 CASP8 FGFR2 FGFR3

MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 RUNX2 RECQL4 CASP2 COL1A2 CASP8 FGFR1
2 growth/size/body region MP:0005378 10.32 RECQL4 IBSP MSX2 RUNX2 CASP8 COL1A2
3 craniofacial MP:0005382 10.3 RECQL4 TWIST1 MSX2 RUNX2 FGFR1 CBL
4 behavior/neurological MP:0005386 10.28 MSX2 RECQL4 CBL COL1A2 TWIST2 TWIST1
5 cardiovascular system MP:0005385 10.27 MSX2 RUNX2 CBL COL1A2 CASP8 FGFR1
6 hematopoietic system MP:0005397 10.26 RUNX2 RECQL4 IBSP MSX2 CASP2 CASP8
7 digestive/alimentary MP:0005381 10.25 RECQL4 TWIST1 IBSP MSX2 RUNX2 FGFR1
8 immune system MP:0005387 10.23 RUNX2 RECQL4 IBSP MSX2 CASP2 CASP8
9 endocrine/exocrine gland MP:0005379 10.22 RUNX2 RECQL4 MSX2 CBL CASP2 CASP8
10 limbs/digits/tail MP:0005371 10.18 RECQL4 TWIST1 MSX2 RUNX2 COL1A2 FGFR1
11 integument MP:0010771 10.13 RECQL4 MSX2 RUNX2 CASP8 COL1A2 FGFR1
12 mortality/aging MP:0010768 10.13 MSX2 RUNX2 RECQL4 CBL CASP2 COL1A2
13 embryo MP:0005380 10.08 MSX2 RECQL4 CASP8 TWIST1 FGFR2 HAND2
14 hearing/vestibular/ear MP:0005377 10.04 MSX2 CBL FGFR1 TWIST2 HAND2 FGFR3
15 muscle MP:0005369 9.96 MSX2 RUNX2 CASP8 COL1A2 FGFR1 CBL
16 liver/biliary system MP:0005370 9.85 RUNX2 CBL CASP8 TWIST2 FGFR2 HAND2
17 nervous system MP:0003631 9.81 MSX2 RUNX2 CASP2 CASP8 TWIST1 FGFR2
18 skeleton MP:0005390 9.73 RECQL4 TWIST1 IBSP MSX2 RUNX2 COL1A2
19 vision/eye MP:0005391 9.17 MSX2 RUNX2 RECQL4 TWIST2 FGFR2 FGFR1

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 29 FGFR2 TWIST1

Anatomical Context for Saethre-Chotzen Syndrome

MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

41
Bone, Eye, Heart, Neutrophil

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

19
Skull

Publications for Saethre-Chotzen Syndrome

Articles related to Saethre-Chotzen Syndrome:

(show top 50) (show all 96)
# Title Authors Year
1
Tyrosine kinase receptor c-ros-oncogene 1 inhibition alleviates aberrant bone formation of TWIST-1 haploinsufficient calvarial cells from Saethre-Chotzen syndrome patients. ( 29663378 )
2018
2
Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9. ( 28220539 )
2017
3
A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome. ( 27870659 )
2016
4
Y-craniosynostosis by premature fusion of the metopic and coronal sutures: A new nosological entity or a variety of Saethre-Chotzen syndrome? ( 25808521 )
2015
5
New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis. ( 26114524 )
2015
6
A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome. ( 25565733 )
2014
7
Child with Saethre-Chotzen syndrome: anesthetic management and literature review. ( 25622384 )
2014
8
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
9
Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome. ( 22569119 )
2012
10
Interrelationship of cranial suture fusion, basicranial development, and resynostosis following suturectomy in twist1(+/-) mice, a murine model of Saethre-Chotzen syndrome. ( 22903506 )
2012
11
Audiologic findings in Saethre-Chotzen syndrome. ( 21532428 )
2011
12
Prenatal sonographic diagnosis of familial Saethre-Chotzen syndrome. ( 21357567 )
2011
13
Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. ( 20184424 )
2010
14
Saethre-Chotzen syndrome: a case report. ( 19860490 )
2010
15
The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. ( 19952666 )
2009
16
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. ( 19483581 )
2009
17
The frequency of palatal anomalies in Saethre-Chotzen syndrome. ( 19642760 )
2009
18
Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer. ( 19025794 )
2009
19
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. ( 19373776 )
2009
20
Discussion. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. ( 19483582 )
2009
21
Anesthesia in a child with Saethre-Chotzen syndrome. ( 18095973 )
2008
22
Psychiatric comorbidity in a girl with Saethre-Chotzen syndrome. ( 18797404 )
2008
23
Saethre-Chotzen syndrome and anesthesia. ( 18950351 )
2008
24
Women with Saethre-Chotzen syndrome are at increased risk of breast cancer. ( 17437280 )
2007
25
Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --&amp;gt; pter. ( 18019370 )
2007
26
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
27
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma. ( 17074596 )
2006
28
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. ( 16251895 )
2006
29
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. ( 16526917 )
2006
30
A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome. ( 15829502 )
2005
31
Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities. ( 15735646 )
2005
32
Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome. ( 15802514 )
2005
33
Saethre-Chotzen syndrome: a case report. ( 16503569 )
2005
34
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. ( 15923834 )
2005
35
In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome. ( 15781003 )
2005
36
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations. ( 15151448 )
2004
37
Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome. ( 15547403 )
2004
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
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. ( 14513358 )
2003
40
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. ( 12612814 )
2003
41
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. ( 11977182 )
2002
42
Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation. ( 11854168 )
2002
43
Saethre-Chotzen syndrome presenting with incomplete renal Fanconi syndrome. ( 12218332 )
2002
44
Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. ( 12221714 )
2002
45
A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation. ( 11772178 )
2002
46
Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome. ( 12015302 )
2002
47
Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome. ( 11342579 )
2001
48
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis. ( 11280946 )
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
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. ( 11248247 )
2001

Variations for Saethre-Chotzen Syndrome

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

75
# 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 top 50) (show all 172)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWIST1 NM_000474.3(TWIST1): c.356A> C (p.Gln119Pro) single nucleotide variant Pathogenic rs104894057 GRCh37 Chromosome 7, 19156589: 19156589
2 TWIST1 NM_000474.3(TWIST1): c.308_309insA (p.Tyr103Terfs) insertion Pathogenic rs121909186 GRCh37 Chromosome 7, 19156637: 19156637
3 TWIST1 NM_000474.3(TWIST1): c.308_309insA (p.Tyr103Terfs) insertion Pathogenic rs121909186 GRCh38 Chromosome 7, 19117014: 19117014
4 TWIST1 NM_000474.3(TWIST1): c.356A> C (p.Gln119Pro) single nucleotide variant Pathogenic rs104894057 GRCh38 Chromosome 7, 19116966: 19116966
5 TWIST1 NM_000474.3(TWIST1): c.309C> A (p.Tyr103Ter) single nucleotide variant Pathogenic rs104894054 GRCh37 Chromosome 7, 19156636: 19156636
6 TWIST1 NM_000474.3(TWIST1): c.309C> A (p.Tyr103Ter) single nucleotide variant Pathogenic rs104894054 GRCh38 Chromosome 7, 19117013: 19117013
7 TWIST1 NM_000474.3(TWIST1): c.368C> A (p.Ser123Ter) single nucleotide variant Pathogenic rs121909187 GRCh37 Chromosome 7, 19156577: 19156577
8 TWIST1 NM_000474.3(TWIST1): c.368C> A (p.Ser123Ter) single nucleotide variant Pathogenic rs121909187 GRCh38 Chromosome 7, 19116954: 19116954
9 TWIST1 NM_000474.3(TWIST1): c.376G> T (p.Glu126Ter) single nucleotide variant Pathogenic rs121909188 GRCh37 Chromosome 7, 19156569: 19156569
10 TWIST1 NM_000474.3(TWIST1): c.376G> T (p.Glu126Ter) single nucleotide variant Pathogenic rs121909188 GRCh38 Chromosome 7, 19116946: 19116946
11 TWIST1 NM_000474.3(TWIST1): c.392T> C (p.Leu131Pro) single nucleotide variant Pathogenic rs121909189 GRCh37 Chromosome 7, 19156553: 19156553
12 TWIST1 NM_000474.3(TWIST1): c.392T> C (p.Leu131Pro) single nucleotide variant Pathogenic rs121909189 GRCh38 Chromosome 7, 19116930: 19116930
13 TWIST1 TWIST1, 21-BP DUP duplication Pathogenic
14 TWIST1 NM_000474.3(TWIST1): c.541G> T (p.Glu181Ter) single nucleotide variant Pathogenic rs104894058 GRCh37 Chromosome 7, 19156404: 19156404
15 TWIST1 NM_000474.3(TWIST1): c.541G> T (p.Glu181Ter) single nucleotide variant Pathogenic rs104894058 GRCh38 Chromosome 7, 19116781: 19116781
16 TWIST1 NM_000474.3(TWIST1): c.466A> G (p.Ile156Val) single nucleotide variant Pathogenic rs104894059 GRCh37 Chromosome 7, 19156479: 19156479
17 TWIST1 NM_000474.3(TWIST1): c.466A> G (p.Ile156Val) single nucleotide variant Pathogenic rs104894059 GRCh38 Chromosome 7, 19116856: 19116856
18 FGFR2 NM_000141.4(FGFR2): c.804_809delAGTGGT (p.Val269_Val270del) deletion Pathogenic rs879253718 GRCh37 Chromosome 10, 123279623: 123279628
19 FGFR2 NM_000141.4(FGFR2): c.804_809delAGTGGT (p.Val269_Val270del) deletion Pathogenic rs879253718 GRCh38 Chromosome 10, 121520109: 121520114
20 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
21 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
22 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
23 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
24 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
25 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
26 TWIST1 NM_000474.3(TWIST1): c.259_276del18 (p.Ala87_Gly92del) deletion Benign rs544465774 GRCh37 Chromosome 7, 19156669: 19156686
27 TWIST1 NM_000474.3(TWIST1): c.259_276del18 (p.Ala87_Gly92del) deletion Benign rs544465774 GRCh38 Chromosome 7, 19117046: 19117063
28 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh37 Chromosome 10, 123243197: 123243197
29 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh38 Chromosome 10, 121483683: 121483683
30 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh38 Chromosome 10, 121488036: 121488036
31 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh37 Chromosome 10, 123247550: 123247550
32 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh37 Chromosome 10, 123298158: 123298158
33 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh38 Chromosome 10, 121538644: 121538644
34 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh37 Chromosome 10, 123353213: 123353213
35 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh38 Chromosome 10, 121593699: 121593699
36 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh37 Chromosome 10, 123237869: 123237873
37 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh38 Chromosome 10, 121478355: 121478359
38 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh37 Chromosome 10, 123237969: 123237969
39 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh38 Chromosome 10, 121478455: 121478455
40 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh37 Chromosome 10, 123238002: 123238002
41 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh38 Chromosome 10, 121478488: 121478488
42 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh37 Chromosome 10, 123238902: 123238902
43 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh38 Chromosome 10, 121479388: 121479388
44 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh37 Chromosome 10, 123239112: 123239112
45 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh38 Chromosome 10, 121479598: 121479598
46 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh37 Chromosome 10, 123239260: 123239260
47 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh38 Chromosome 10, 121479746: 121479746
48 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh38 Chromosome 10, 121496734: 121496734
49 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh37 Chromosome 10, 123256248: 123256248
50 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 GRCh37 Chromosome 10, 123353459: 123353459

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 CBL COL1A2 FGFR1 FGFR2 FGFR3 TWIST1
2 12.67 CASP8 CBL FGFR1 FGFR2 FGFR3
3
Show member pathways
12.63 CASP8 COL1A2 FGFR1 FGFR2 FGFR3 IBSP
4 12.58 CASP2 CASP8 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.42 CBL FGFR1 FGFR2 FGFR3
6
Show member pathways
12.3 CBL FGFR1 FGFR2 FGFR3
7
Show member pathways
12.29 CASP8 FGFR1 FGFR2 FGFR3
8 12.1 CBL FGFR1 TWIST1 TWIST2
9
Show member pathways
12.07 CBL FGFR1 FGFR2 FGFR3
10 11.94 FGFR1 FGFR2 FGFR3
11
Show member pathways
11.93 CBL FGFR1 FGFR2 FGFR3
12
Show member pathways
11.92 FGFR1 FGFR2 FGFR3
13 11.8 BGLAP FGFR1 RUNX2
14 11.73 CBL FGFR1 FGFR2 FGFR3
15 11.7 FGFR1 FGFR2 FGFR3
16 11.53 FGFR1 FGFR2 FGFR3
17 11.51 FGFR1 FGFR3 RUNX2
18 11.36 FGFR1 FGFR2 FGFR3 MSX2 TWIST1
19 11.31 BGLAP RUNX2 TWIST1
20 11.26 FGFR1 FGFR2 FGFR3
21 11.22 BGLAP IBSP RUNX2
22 11.17 FGFR1 FGFR2 FGFR3
23 11.05 BGLAP COL1A2 IBSP RUNX2
24 10.74 BGLAP IBSP
25 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 44)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.97 FGFR1 FGFR2 FGFR3 HAND2
2 in utero embryonic development GO:0001701 9.94 FGFR1 FGFR2 HAND2 TWIST1
3 negative regulation of signal transduction GO:0009968 9.87 FGFR1 FGFR2 FGFR3
4 phosphatidylinositol phosphorylation GO:0046854 9.86 FGFR1 FGFR2 FGFR3
5 positive regulation of kinase activity GO:0033674 9.84 FGFR1 FGFR2 FGFR3
6 response to ethanol GO:0045471 9.84 BGLAP CASP8 CBL FGFR2
7 embryonic digit morphogenesis GO:0042733 9.83 HAND2 MSX2 TWIST1
8 bone development GO:0060348 9.81 BGLAP FGFR2 TWIST1
9 embryonic limb morphogenesis GO:0030326 9.81 FGFR1 MSX2 TWIST1
10 ossification GO:0001503 9.81 BGLAP MSX2 RUNX2 TWIST1
11 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.8 FGFR1 FGFR2 FGFR3
12 skeletal system development GO:0001501 9.8 BGLAP COL1A2 FGFR1 FGFR3 RUNX2
13 negative regulation of osteoblast differentiation GO:0045668 9.78 HAND2 TWIST1 TWIST2
14 fibroblast growth factor receptor signaling pathway GO:0008543 9.78 CBL FGFR1 FGFR2 FGFR3
15 skeletal system morphogenesis GO:0048705 9.77 FGFR1 FGFR2 RUNX2
16 chondrocyte differentiation GO:0002062 9.77 FGFR1 FGFR3 RUNX2
17 embryonic cranial skeleton morphogenesis GO:0048701 9.74 FGFR2 RUNX2 TWIST1
18 embryonic forelimb morphogenesis GO:0035115 9.73 MSX2 RUNX2 TWIST1
19 cellular response to growth factor stimulus GO:0071363 9.73 BGLAP IBSP MSX2 TWIST1
20 bone morphogenesis GO:0060349 9.72 FGFR2 FGFR3 MSX2
21 regulation of bone mineralization GO:0030500 9.69 BGLAP TWIST1
22 positive regulation of transcription regulatory region DNA binding GO:2000679 9.69 HAND2 TWIST1
23 chondrocyte development GO:0002063 9.68 MSX2 RUNX2
24 regulation of osteoblast differentiation GO:0045667 9.68 FGFR2 RUNX2
25 branching involved in salivary gland morphogenesis GO:0060445 9.68 FGFR1 FGFR2
26 mesenchymal cell differentiation GO:0048762 9.67 FGFR1 FGFR2
27 outer ear morphogenesis GO:0042473 9.67 FGFR1 TWIST1
28 lung-associated mesenchyme development GO:0060484 9.66 FGFR1 FGFR2
29 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.65 FGFR2 RUNX2
30 cranial suture morphogenesis GO:0060363 9.65 MSX2 TWIST1
31 osteoblast development GO:0002076 9.63 BGLAP MSX2 RUNX2
32 cardiac neural crest cell migration involved in outflow tract morphogenesis GO:0003253 9.62 HAND2 TWIST1
33 orbitofrontal cortex development GO:0021769 9.62 FGFR1 FGFR2
34 cardiac neural crest cell development involved in outflow tract morphogenesis GO:0061309 9.61 HAND2 TWIST1
35 ventricular zone neuroblast division GO:0021847 9.58 FGFR1 FGFR2
36 bone mineralization GO:0030282 9.56 BGLAP FGFR2 FGFR3 IBSP
37 osteoblast differentiation GO:0001649 9.55 BGLAP IBSP MSX2 RUNX2 TWIST1
38 positive regulation of phospholipase activity GO:0010518 9.54 FGFR1 FGFR2 FGFR3
39 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.52 FGFR1 FGFR2
40 endochondral bone growth GO:0003416 9.5 FGFR2 FGFR3 MSX2
41 odontogenesis GO:0042476 9.35 BGLAP COL1A2 FGFR2 MSX2 TWIST1
42 negative regulation of apoptotic process GO:0043066 9.28 CASP2 CBL FGFR1 FGFR2 FGFR3 HAND2
43 cell differentiation GO:0030154 10.12 FGFR1 FGFR2 FGFR3 HAND2 RUNX2 TWIST1
44 multicellular organism development GO:0007275 10.1 FGFR1 FGFR2 FGFR3 HAND2 MSX2 RECQL4

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 9.65 FGFR1 FGFR2 FGFR3
2 MAP kinase kinase kinase activity GO:0004709 9.58 FGFR1 FGFR2 FGFR3
3 mitogen-activated protein kinase kinase binding GO:0031434 9.54 FGFR1 FGFR2 FGFR3
4 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGFR1 FGFR2 FGFR3
5 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.46 CASP2 CASP8
6 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.43 CASP2 CASP8
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR1 FGFR2 FGFR3
8 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR1 FGFR2 FGFR3
9 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
10 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Saethre-Chotzen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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