SCS
MCID: STH001
MIFTS: 64

Saethre-Chotzen Syndrome (SCS)

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Saethre-Chotzen Syndrome

MalaCards integrated aliases for Saethre-Chotzen Syndrome:

Name: Saethre-Chotzen Syndrome 58 12 77 25 54 26 76 38 30 56 6 15 74
Acs3 58 54 26 76
Scs 58 54 26 76
Acrocephaly, Skull Asymmetry, and Mild Syndactyly 58 54 26
Chotzen Syndrome 58 54 26
Acs Iii 58 26 76
Acrocephalosyndactyly, Type Iii 58 26
Acrocephalosyndactyly Type Iii 12 25
Acrocephalosyndactyly Type 3 54 76
Saethre-Chotzen Syndrome with or Without Eyelid Anomalies 58
Syndrome, Saethre-Chotzen, with/without Eyelid Anomalies 41
Dysostosis Craniofacialis with Hypertelorism 26
Acrocephalosyndactyly, Type Iii; Acs3 58
Acrocephalo-Syndactyly, Type 3 54
Acrocephalosyndactyly Iii 26
Sakati Syndrome 74
Acs 3 54

Characteristics:

OMIM:

58
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:

33
saethre-chotzen syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


GeneReviews:

25
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 : 54 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 parietal foramina and jackson-weiss syndrome. 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 breast, and related phenotypes are finger syndactyly and clinodactyly of the 5th finger

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 : 26 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.

OMIM : 58 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 : 76 Saethre-Chotzen syndrome: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.

Wikipedia : 77 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 236)
# Related Disease Score Top Affiliating Genes
1 parietal foramina 30.7 MSX2 RUNX2 TWIST1
2 jackson-weiss syndrome 30.3 FGFR3 FGFR2 FGFR1
3 craniosynostosis 30.2 FGFR1 FGFR2 FGFR3 MSX2 RECQL4 TWIST1
4 synostosis 29.9 FGFR1 FGFR2 FGFR3 MSX2 TWIST1
5 crouzon syndrome 29.8 FGFR1 FGFR2 FGFR3 MSX2
6 pfeiffer syndrome 29.7 BGLAP FGFR1 FGFR2 FGFR3 RUNX2 TWIST1
7 osteoporosis 28.9 ALPP BGLAP COL1A2 IBSP RUNX2
8 sc phocomelia syndrome 12.6
9 sickle cell anemia 12.3
10 sc(1) trait of saliva 12.1
11 roberts syndrome 12.0
12 robinow-sorauf syndrome 11.8
13 baller-gerold syndrome 11.6
14 chromosome 2q35 duplication syndrome 11.5
15 fontaine progeroid syndrome 11.5
16 sydenham chorea 11.4
17 rheumatic encephalitis 11.4
18 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 11.1
19 pityriasis rubra pilaris 10.7
20 x-linked intellectual disability, seemanova type 10.6
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
22 breast cancer 10.5
23 intracranial hypertension 10.5
24 scrapie 10.5
25 phocomelia 10.4
26 hemifacial hyperplasia 10.4 FGFR2 FGFR3
27 isolated plagiocephaly 10.4 FGFR3 TWIST1
28 isolated brachycephaly 10.4 FGFR3 TWIST1
29 encephalopathy 10.3
30 luteoma 10.3 FGFR2 FGFR3
31 renal cell carcinoma, nonpapillary 10.3
32 lipoid congenital adrenal hyperplasia 10.3
33 polydactyly 10.3
34 sensorineural hearing loss 10.3
35 fanconi syndrome 10.3
36 fgfr-related craniosynostosis syndromes 10.3
37 hyper ige syndrome 10.3
38 beare-stevenson cutis gyrata syndrome 10.3 FGFR2 FGFR3
39 partial trisomy distal 4q 10.2 HAND2 TWIST1 TWIST2
40 horns in sheep 10.2
41 dysostosis 10.2 FGFR2 RUNX2 TWIST1
42 strabismus 10.2 FGFR2 FGFR3 TWIST1
43 spondyloepiphyseal dysplasia congenita 10.1 COL1A2 FGFR3 RUNX2
44 thalassemia 10.1
45 splenic sequestration 10.1
46 pleuropneumonia 10.1
47 prion disease 10.1
48 parietal foramina with cleidocranial dysplasia 10.1 MSX2 RUNX2
49 alveolar periostitis 10.1 BGLAP RUNX2
50 pontocerebellar hypoplasia 10.1

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



Diseases related to Saethre-Chotzen Syndrome

Symptoms & Phenotypes for Saethre-Chotzen Syndrome

Human phenotypes related to Saethre-Chotzen Syndrome:

33 (show top 50) (show all 73)
# Description HPO Frequency HPO Source Accession
1 finger syndactyly 33 hallmark (90%) HP:0006101
2 clinodactyly of the 5th finger 33 hallmark (90%) HP:0004209
3 high forehead 33 hallmark (90%) HP:0000348
4 craniosynostosis 33 hallmark (90%) HP:0001363
5 facial asymmetry 33 hallmark (90%) HP:0000324
6 hypertelorism 33 frequent (33%) HP:0000316
7 ptosis 33 frequent (33%) HP:0000508
8 hyperlordosis 33 frequent (33%) HP:0003307
9 narrow palate 33 frequent (33%) HP:0000189
10 depressed nasal bridge 33 frequent (33%) HP:0005280
11 open bite 33 frequent (33%) HP:0010807
12 microtia 33 frequent (33%) HP:0008551
13 brachycephaly 33 frequent (33%) HP:0000248
14 strabismus 33 frequent (33%) HP:0000486
15 external ear malformation 33 frequent (33%) HP:0008572
16 prominent nasal bridge 33 frequent (33%) HP:0000426
17 abnormality of the antihelix 33 frequent (33%) HP:0009738
18 brachydactyly 33 frequent (33%) HP:0001156
19 bilateral single transverse palmar creases 33 frequent (33%) HP:0007598
20 low anterior hairline 33 frequent (33%) HP:0000294
21 blepharospasm 33 frequent (33%) HP:0000643
22 convex nasal ridge 33 frequent (33%) HP:0000444
23 plagiocephaly 33 frequent (33%) HP:0001357
24 narrow internal auditory canal 33 frequent (33%) HP:0011386
25 delayed cranial suture closure 33 frequent (33%) HP:0000270
26 prominent crus of helix 33 frequent (33%) HP:0009899
27 low-set ears 33 occasional (7.5%) HP:0000369
28 intellectual disability 33 occasional (7.5%) HP:0001249
29 seizures 33 occasional (7.5%) HP:0001250
30 scoliosis 33 occasional (7.5%) HP:0002650
31 sleep apnea 33 occasional (7.5%) HP:0010535
32 increased intracranial pressure 33 occasional (7.5%) HP:0002516
33 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
34 optic atrophy 33 occasional (7.5%) HP:0000648
35 short stature 33 occasional (7.5%) HP:0004322
36 broad thumb 33 occasional (7.5%) HP:0011304
37 cleft palate 33 occasional (7.5%) HP:0000175
38 epicanthus 33 occasional (7.5%) HP:0000286
39 abnormal form of the vertebral bodies 33 occasional (7.5%) HP:0003312
40 cryptorchidism 33 occasional (7.5%) HP:0000028
41 migraine 33 occasional (7.5%) HP:0002076
42 intellectual disability, moderate 33 occasional (7.5%) HP:0002342
43 hypoplasia of the maxilla 33 occasional (7.5%) HP:0000327
44 conductive hearing impairment 33 occasional (7.5%) HP:0000405
45 amblyopia 33 occasional (7.5%) HP:0000646
46 hallux valgus 33 occasional (7.5%) HP:0001822
47 hypotelorism 33 occasional (7.5%) HP:0000601
48 triphalangeal thumb 33 occasional (7.5%) HP:0001199
49 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
50 proximal radio-ulnar synostosis 33 occasional (7.5%) HP:0005037

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# 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:

47 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 CASP2 CASP8 CBL COL1A2 FGFR1 FGFR2
2 growth/size/body region MP:0005378 10.32 CASP8 CBL COL1A2 FGFR1 FGFR2 FGFR3
3 craniofacial MP:0005382 10.3 CBL FGFR1 FGFR2 FGFR3 HAND2 IBSP
4 behavior/neurological MP:0005386 10.28 CBL COL1A2 FGFR1 FGFR2 FGFR3 HAND2
5 cardiovascular system MP:0005385 10.27 CASP8 CBL COL1A2 FGFR1 FGFR2 HAND2
6 hematopoietic system MP:0005397 10.26 CASP2 CASP8 CBL FGFR1 FGFR2 FGFR3
7 digestive/alimentary MP:0005381 10.25 FGFR1 FGFR2 FGFR3 HAND2 IBSP MSX2
8 immune system MP:0005387 10.23 CASP2 CASP8 CBL FGFR1 FGFR2 FGFR3
9 endocrine/exocrine gland MP:0005379 10.22 CASP2 CASP8 CBL FGFR1 FGFR2 HAND2
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 CASP2 CASP8 CBL COL1A2 FGFR1 FGFR2
13 embryo MP:0005380 10.08 CASP8 FGFR1 FGFR2 HAND2 MSX2 RECQL4
14 hearing/vestibular/ear MP:0005377 10.04 CBL FGFR1 FGFR2 FGFR3 HAND2 MSX2
15 muscle MP:0005369 9.96 CASP8 CBL COL1A2 FGFR1 FGFR2 HAND2
16 liver/biliary system MP:0005370 9.85 CASP8 CBL FGFR2 HAND2 RUNX2 TWIST2
17 nervous system MP:0003631 9.81 CASP2 CASP8 FGFR1 FGFR2 FGFR3 HAND2
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

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 Platelet Aggregation Inhibitors Phase 4
5 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 30 FGFR2 TWIST1

Anatomical Context for Saethre-Chotzen Syndrome

MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

42
Bone, Eye, Breast, Heart, Neutrophil

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

20
Skull

Publications for Saethre-Chotzen Syndrome

Articles related to Saethre-Chotzen Syndrome:

(show top 50) (show all 104)
# Title Authors Year
1
Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome. ( 30817546 )
2019
2
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
3
Altered bone growth dynamics prefigure craniosynostosis in a zebrafish model of Saethre-Chotzen syndrome. ( 30375332 )
2018
4
Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome. ( 30040876 )
2018
5
Staged Raising of a Coronal Flap for Fronto-Orbital Advancement and Remodeling in Saethre-Chotzen Syndrome Complicated by Sinus Pericranii. ( 30074960 )
2018
6
Saethre-Chotzen syndrome: Case report and literature review. ( 30152628 )
2018
7
Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9. ( 28220539 )
2017
8
A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome. ( 27870659 )
2016
9
Y-craniosynostosis by premature fusion of the metopic and coronal sutures: A new nosological entity or a variety of Saethre-Chotzen syndrome? ( 25808521 )
2015
10
New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis. ( 26114524 )
2015
11
A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome. ( 25565733 )
2014
12
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
13
Child with Saethre-Chotzen syndrome: anesthetic management and literature review. ( 25622384 )
2014
14
Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome. ( 22569119 )
2012
15
Interrelationship of cranial suture fusion, basicranial development, and resynostosis following suturectomy in twist1(+/-) mice, a murine model of Saethre-Chotzen syndrome. ( 22903506 )
2012
16
Audiologic findings in Saethre-Chotzen syndrome. ( 21532428 )
2011
17
Prenatal sonographic diagnosis of familial Saethre-Chotzen syndrome. ( 21357567 )
2011
18
Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. ( 20184424 )
2010
19
Saethre-Chotzen syndrome: a case report. ( 19860490 )
2010
20
The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. ( 19952666 )
2009
21
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. ( 19483581 )
2009
22
The frequency of palatal anomalies in Saethre-Chotzen syndrome. ( 19642760 )
2009
23
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. ( 19373776 )
2009
24
Discussion. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. ( 19483582 )
2009
25
Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer. ( 19025794 )
2009
26
Saethre-Chotzen syndrome and anesthesia. ( 18950351 )
2008
27
Psychiatric comorbidity in a girl with Saethre-Chotzen syndrome. ( 18797404 )
2008
28
Anesthesia in a child with Saethre-Chotzen syndrome. ( 18095973 )
2008
29
Women with Saethre-Chotzen syndrome are at increased risk of breast cancer. ( 17437280 )
2007
30
Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --&amp;gt; pter. ( 18019370 )
2007
31
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
32
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma. ( 17074596 )
2006
33
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. ( 16251895 )
2006
34
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. ( 16526917 )
2006
35
A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome. ( 15829502 )
2005
36
Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities. ( 15735646 )
2005
37
Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome. ( 15802514 )
2005
38
Saethre-Chotzen syndrome: a case report. ( 16503569 )
2005
39
In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome. ( 15781003 )
2005
40
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. ( 15923834 )
2005
41
Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome. ( 15547403 )
2004
42
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations. ( 15151448 )
2004
43
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. ( 12791045 )
2003
44
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. ( 12612814 )
2003
45
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. ( 14513358 )
2003
46
Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome. ( 12015302 )
2002
47
A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation. ( 11772178 )
2002
48
Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. ( 12221714 )
2002
49
Saethre-Chotzen syndrome presenting with incomplete renal Fanconi syndrome. ( 12218332 )
2002
50
Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation. ( 11854168 )
2002

Variations for Saethre-Chotzen Syndrome

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

76
# 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 192)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
2 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
3 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
4 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
5 FGFR2 NM_000141.4(FGFR2): c.804_809del (p.Val269_Val270del) deletion Pathogenic rs879253718 GRCh37 Chromosome 10, 123279623: 123279628
6 FGFR2 NM_000141.4(FGFR2): c.804_809del (p.Val269_Val270del) deletion Pathogenic rs879253718 GRCh38 Chromosome 10, 121520109: 121520114
7 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
8 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
9 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh37 Chromosome 10, 123353315: 123353315
10 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh38 Chromosome 10, 121593801: 121593801
11 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh37 Chromosome 10, 123325158: 123325158
12 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh38 Chromosome 10, 121565644: 121565644
13 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh37 Chromosome 10, 123279482: 123279482
14 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh38 Chromosome 10, 121519968: 121519968
15 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh37 Chromosome 10, 123243197: 123243197
16 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh38 Chromosome 10, 121483683: 121483683
17 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh38 Chromosome 10, 121488036: 121488036
18 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh37 Chromosome 10, 123247550: 123247550
19 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh37 Chromosome 10, 123298158: 123298158
20 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh38 Chromosome 10, 121538644: 121538644
21 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh37 Chromosome 10, 123353213: 123353213
22 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh38 Chromosome 10, 121478355: 121478359
23 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh37 Chromosome 10, 123237869: 123237873
24 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh38 Chromosome 10, 121478455: 121478455
25 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh37 Chromosome 10, 123237969: 123237969
26 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh37 Chromosome 10, 123238002: 123238002
27 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh38 Chromosome 10, 121478488: 121478488
28 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh37 Chromosome 10, 123238902: 123238902
29 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh38 Chromosome 10, 121479388: 121479388
30 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh37 Chromosome 10, 123239112: 123239112
31 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh38 Chromosome 10, 121479598: 121479598
32 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh37 Chromosome 10, 123239260: 123239260
33 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh38 Chromosome 10, 121479746: 121479746
34 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh38 Chromosome 10, 121496734: 121496734
35 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh37 Chromosome 10, 123256248: 123256248
36 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 GRCh38 Chromosome 10, 121593945: 121593945
37 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 GRCh37 Chromosome 10, 123353459: 123353459
38 FGFR2 NM_000141.4(FGFR2): c.-135C> T single nucleotide variant Likely benign rs554557891 GRCh38 Chromosome 10, 121593952: 121593952
39 FGFR2 NM_000141.4(FGFR2): c.-135C> T single nucleotide variant Likely benign rs554557891 GRCh37 Chromosome 10, 123353466: 123353466
40 FGFR2 NM_000141.4(FGFR2): c.-236G> C single nucleotide variant Benign rs1047111 GRCh38 Chromosome 10, 121598047: 121598047
41 FGFR2 NM_000141.4(FGFR2): c.-236G> C single nucleotide variant Benign rs1047111 GRCh37 Chromosome 10, 123357561: 123357561
42 FGFR2 NM_000141.4(FGFR2): c.-318G> C single nucleotide variant Benign rs41301547 GRCh37 Chromosome 10, 123357643: 123357643
43 FGFR2 NM_000141.4(FGFR2): c.-318G> C single nucleotide variant Benign rs41301547 GRCh38 Chromosome 10, 121598129: 121598129
44 FGFR2 NM_000141.4(FGFR2): c.-535G> C single nucleotide variant Uncertain significance rs886046767 GRCh37 Chromosome 10, 123357860: 123357860
45 FGFR2 NM_000141.4(FGFR2): c.-535G> C single nucleotide variant Uncertain significance rs886046767 GRCh38 Chromosome 10, 121598346: 121598346
46 FGFR2 NM_000141.4(FGFR2): c.*1301C> T single nucleotide variant Likely benign rs71640261 GRCh37 Chromosome 10, 123238070: 123238070
47 FGFR2 NM_000141.4(FGFR2): c.*1301C> T single nucleotide variant Likely benign rs71640261 GRCh38 Chromosome 10, 121478556: 121478556
48 FGFR2 NM_000141.4(FGFR2): c.*1126T> C single nucleotide variant Uncertain significance rs370106008 GRCh37 Chromosome 10, 123238245: 123238245
49 FGFR2 NM_000141.4(FGFR2): c.*1126T> C single nucleotide variant Uncertain significance rs370106008 GRCh38 Chromosome 10, 121478731: 121478731
50 FGFR2 NM_000141.4(FGFR2): c.*921G> A single nucleotide variant Likely benign rs185617859 GRCh37 Chromosome 10, 123238450: 123238450

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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.2 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
12.3 CBL FGFR1 FGFR2 FGFR3
6
Show member pathways
12.28 CASP8 FGFR1 FGFR2 FGFR3
7 12.1 CBL FGFR1 TWIST1 TWIST2
8
Show member pathways
12.07 CBL FGFR1 FGFR2 FGFR3
9 11.94 FGFR1 FGFR2 FGFR3
10
Show member pathways
11.93 CBL FGFR1 FGFR2 FGFR3
11 11.81 BGLAP FGFR1 RUNX2
12 11.73 CBL FGFR1 FGFR2 FGFR3
13 11.7 FGFR1 FGFR2 FGFR3
14 11.58 CBL FGFR1 FGFR2 FGFR3
15 11.53 FGFR1 FGFR2 FGFR3
16 11.51 FGFR1 FGFR3 RUNX2
17 11.36 FGFR1 FGFR2 FGFR3 MSX2 TWIST1
18 11.31 BGLAP RUNX2 TWIST1
19 11.26 FGFR1 FGFR2 FGFR3
20 11.25 FGFR1 FGFR2 FGFR3 HAND2
21 11.22 BGLAP IBSP RUNX2
22 11.18 FGFR1 FGFR2 FGFR3
23 11.05 BGLAP COL1A2 IBSP RUNX2
24 10.95 FGFR1 FGFR2 FGFR3
25 10.74 BGLAP IBSP
26 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)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.94 FGFR1 FGFR2 HAND2 TWIST1
2 positive regulation of MAPK cascade GO:0043410 9.86 FGFR1 FGFR2 FGFR3
3 phosphatidylinositol phosphorylation GO:0046854 9.86 FGFR1 FGFR2 FGFR3
4 cell differentiation GO:0030154 9.84 HAND2 RUNX2 TWIST1 TWIST2
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.83 FGFR2 FGFR3 HAND2
6 response to ethanol GO:0045471 9.83 BGLAP CASP8 CBL FGFR2
7 embryonic digit morphogenesis GO:0042733 9.82 HAND2 MSX2 TWIST1
8 embryonic limb morphogenesis GO:0030326 9.81 FGFR1 MSX2 TWIST1
9 bone development GO:0060348 9.8 BGLAP FGFR2 TWIST1
10 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.8 FGFR1 FGFR2 FGFR3
11 ossification GO:0001503 9.8 BGLAP MSX2 RUNX2 TWIST1
12 skeletal system development GO:0001501 9.8 BGLAP COL1A2 FGFR1 FGFR3 RUNX2
13 negative regulation of osteoblast differentiation GO:0045668 9.79 HAND2 TWIST1 TWIST2
14 skeletal system morphogenesis GO:0048705 9.77 FGFR1 FGFR2 RUNX2
15 chondrocyte differentiation GO:0002062 9.76 FGFR1 FGFR3 RUNX2
16 fibroblast growth factor receptor signaling pathway GO:0008543 9.76 CBL FGFR1 FGFR2 FGFR3
17 embryonic cranial skeleton morphogenesis GO:0048701 9.74 FGFR2 RUNX2 TWIST1
18 bone morphogenesis GO:0060349 9.73 FGFR2 FGFR3 MSX2
19 cellular response to growth factor stimulus GO:0071363 9.73 BGLAP IBSP MSX2 TWIST1
20 embryonic forelimb morphogenesis GO:0035115 9.72 MSX2 RUNX2 TWIST1
21 execution phase of apoptosis GO:0097194 9.69 CASP2 CASP8
22 regulation of bone mineralization GO:0030500 9.69 BGLAP TWIST1
23 chondrocyte development GO:0002063 9.68 MSX2 RUNX2
24 positive regulation of transcription regulatory region DNA binding GO:2000679 9.68 HAND2 TWIST1
25 regulation of osteoblast differentiation GO:0045667 9.68 FGFR2 RUNX2
26 branching involved in salivary gland morphogenesis GO:0060445 9.67 FGFR1 FGFR2
27 mesenchymal cell differentiation GO:0048762 9.67 FGFR1 FGFR2
28 outer ear morphogenesis GO:0042473 9.66 FGFR1 TWIST1
29 lung-associated mesenchyme development GO:0060484 9.65 FGFR1 FGFR2
30 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.65 FGFR2 RUNX2
31 cranial suture morphogenesis GO:0060363 9.65 MSX2 TWIST1
32 osteoblast development GO:0002076 9.65 BGLAP MSX2 RUNX2
33 cardiac neural crest cell development involved in outflow tract morphogenesis GO:0061309 9.61 HAND2 TWIST1
34 cardiac neural crest cell migration involved in outflow tract morphogenesis GO:0003253 9.61 HAND2 TWIST1
35 orbitofrontal cortex development GO:0021769 9.6 FGFR1 FGFR2
36 ventricular zone neuroblast division GO:0021847 9.58 FGFR1 FGFR2
37 bone mineralization GO:0030282 9.56 BGLAP FGFR2 FGFR3 IBSP
38 osteoblast differentiation GO:0001649 9.55 BGLAP IBSP MSX2 RUNX2 TWIST1
39 positive regulation of phospholipase activity GO:0010518 9.54 FGFR1 FGFR2 FGFR3
40 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.51 FGFR1 FGFR2
41 endochondral bone growth GO:0003416 9.5 FGFR2 FGFR3 MSX2
42 odontogenesis GO:0042476 9.35 BGLAP COL1A2 FGFR2 MSX2 TWIST1
43 negative regulation of apoptotic process GO:0043066 9.1 CASP2 CBL HAND2 MSX2 TWIST1 TWIST2
44 positive regulation of cell proliferation GO:0008284 10.06 FGFR1 FGFR2 FGFR3 RECQL4 RUNX2

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 apoptotic process GO:0097153 9.37 CASP2 CASP8
5 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR1 FGFR2 FGFR3
6 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
7 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3
8 protein binding GO:0005515 10.25 ALPP CASP2 CASP8 CBL COL1A2 FGFR1

Sources for Saethre-Chotzen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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