MCID: STH001
MIFTS: 61

Saethre-Chotzen Syndrome malady

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

Aliases & Classifications for Saethre-Chotzen Syndrome

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Aliases & Descriptions for Saethre-Chotzen Syndrome:

Name: Saethre-Chotzen Syndrome 50 11 22 46 23 24 13 68 25 48 66
Saethre-Chotzen Syndrome with Eyelid Anomalies 50 25 12
Acrocephalosyndactyly Type Iii 11 22 23
Acs3 46 24 68
Acrocephaly, Skull Asymmetry, and Mild Syndactyly 46 24
Chotzen Syndrome 46 24
Acs Iii 24 68
 
Scs 24 68
Dysostosis Craniofacialis with Hypertelorism 24
Acrocephalosyndactyly, Type Iii 24
Acrocephalo-Syndactyly, Type 3 46
Acrocephalosyndactyly Type 3 68
Acrocephalosyndactyly Iii 24
Acs 3 46

Characteristics:

HPO:

62
saethre-chotzen syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 101400
Disease Ontology11 DOID:14768
MeSH37 D000168
NCIt43 C75034

Summaries for Saethre-Chotzen Syndrome

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NIH Rare Diseases:46 Saethre-chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). this early fusion prevents the skull from growing normally and affects the shape and symmetry of the head and face. other features may include webbing of certain fingers or toes (syndactyly), small or unusually shaped ears, short stature, and abnormalities of the bones in the spine (the vertebrae). the signs and symptoms of saethre-chotzen syndrome vary widely, even among affected individuals in the same family. mutations (variants) in the twist1 gene cause most cases of saethre-chotzen syndrome. the condition is inherited in an autosomal dominant pattern. in some cases, an affected person inherits the mutation from one affected parent. other cases may result from new mutations in the gene. treatment is aimed at addressing the symptoms found in each individual and may require the coordinated efforts of a team of specialists. surgery is often needed to prevent or correct early closure of the cranial sutures and correct certain craniofacial abnormalities, syndactyly and/or skeletal defects.  last updated: 7/20/2016

MalaCards based summary: Saethre-Chotzen Syndrome, also known as saethre-chotzen syndrome with eyelid anomalies, is related to jackson-weiss syndrome and sc phocomelia syndrome, and has symptoms including facial asymmetry, craniosynostosis and finger syndactyly. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways are Signaling pathways regulating pluripotency of stem cells and VEGF Signaling. Affiliated tissues include skull, bone and breast, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Disease Ontology:11 An acrocephalosyndactylia that has material basis in a genetic mutation in the twist1 gene which results in premature fusion located in skull.

UniProtKB/Swiss-Prot:68 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.

Description from OMIM:50 101400

GeneReviews summary for NBK1189

Related Diseases for Saethre-Chotzen Syndrome

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Diseases in the Saethre-Chotzen Syndrome family:

Saethre-Chotzen Syndrome, Fgfr2-Related

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1jackson-weiss syndrome28.8BGLAP, FGFR1, FGFR2, FGFR3, RUNX2, TWIST1
2sc phocomelia syndrome12.4
3saethre-chotzen syndrome, fgfr2-related12.3
4roberts syndrome11.9
5sickle cell anemia11.7
6robinow-sorauf syndrome10.9
7craniosynostosis10.7
8staphylococcal scarlet fever10.6FGFR3, TWIST1
9mite infestation10.6FGFR2, FGFR3
10apert syndrome10.6FGFR2, FGFR3
11accommodative esotropia10.5FGFR2, FGFR3
12breast cancer10.4
13phocomelia10.3
14baller-gerold syndrome10.3
15multifocal osteogenic sarcoma10.3RUNX2, TWIST1
16pfeiffer syndrome10.3
17synostosis10.3
18cervicitis10.3
19intracranial hypertension10.3
20scrapie10.3
21scleredema adultorum10.3FGFR2, FGFR3
22pfn1-related amyotrophic lateral sclerosis10.3FGFR1, FGFR2
23critical congenital heart disease10.3CBL, RUNX2
24crouzon syndrome with acanthosis nigricans10.3CBL, FGFR2, FGFR3
25eclampsia10.3BGLAP, RUNX2
26glaucomatocyclitic crisis10.2FGFR2, FGFR3
27uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis10.2FGFR1, FGFR2
28renal cell carcinoma10.2
29crouzon syndrome10.2
30congenital adrenal hyperplasia10.2
31sensorineural hearing loss10.2
32fanconi syndrome10.2
33polydactyly10.2
34auralcephalosyndactyly10.2
35hyper ige syndrome10.2
36encephalopathy10.1
37osteopetrosis and infantile neuroaxonal dystrophy10.1FGFR1, FGFR3
38pleuropneumonia10.1
39weill-marchesani syndrome10.1FGFR1, FGFR2
40flnb-related disorders10.1FGFR1, FGFR2, FGFR3
41trigonocephaly 110.1FGFR1, FGFR2, FGFR3
42prion disease10.1
43hypogonadotropic hypogonadism 2 with or without anosmia10.1FGFR1, FGFR2, FGFR3
44thanatophoric dysplasia, type i10.0FGFR1, FGFR2, FGFR3
45antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.0FGFR1, FGFR2, FGFR3
46splenic sequestration10.0
47thanatophoric dysplasia, type ii10.0FGFR1, FGFR2, FGFR3
48hypochondroplasia10.0FGFR1, FGFR2, FGFR3
49night blindness, congenital stationary , 1b, autosomal recessive10.0MSX2, RUNX2
50bacillary angiomatosis10.0BGLAP, RUNX2

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



Diseases related to saethre-chotzen syndrome

Symptoms for Saethre-Chotzen Syndrome

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Symptoms by clinical synopsis from OMIM:

101400

Clinical features from OMIM:

101400

HPO human phenotypes related to Saethre-Chotzen Syndrome:

(show all 73)
id Description Frequency HPO Source Accession
1 facial asymmetry hallmark (90%) HP:0000324
2 craniosynostosis hallmark (90%) HP:0001363
3 finger syndactyly hallmark (90%) HP:0006101
4 low anterior hairline typical (50%) HP:0000294
5 hypertelorism typical (50%) HP:0000316
6 atresia of the external auditory canal typical (50%) HP:0000413
7 convex nasal ridge typical (50%) HP:0000444
8 strabismus typical (50%) HP:0000486
9 ptosis typical (50%) HP:0000508
10 single transverse palmar crease typical (50%) HP:0000954
11 brachydactyly syndrome typical (50%) HP:0001156
12 external ear malformation typical (50%) HP:0008572
13 cryptorchidism occasional (7.5%) HP:0000028
14 cleft palate occasional (7.5%) HP:0000175
15 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
16 conductive hearing impairment occasional (7.5%) HP:0000405
17 sensorineural hearing impairment occasional (7.5%) HP:0000407
18 visual impairment occasional (7.5%) HP:0000505
19 optic atrophy occasional (7.5%) HP:0000648
20 seizures occasional (7.5%) HP:0001250
21 hallux valgus occasional (7.5%) HP:0001822
22 migraine occasional (7.5%) HP:0002076
23 apnea occasional (7.5%) HP:0002104
24 increased intracranial pressure occasional (7.5%) HP:0002516
25 scoliosis occasional (7.5%) HP:0002650
26 radioulnar synostosis occasional (7.5%) HP:0002974
27 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
28 short stature occasional (7.5%) HP:0004322
29 cognitive impairment occasional (7.5%) HP:0100543
30 cleft palate HP:0000175
31 narrow palate HP:0000189
32 brachycephaly HP:0000248
33 oxycephaly HP:0000263
34 delayed cranial suture closure HP:0000270
35 malar flattening HP:0000272
36 low anterior hairline HP:0000294
37 hypertelorism HP:0000316
38 facial asymmetry HP:0000324
39 hypoplasia of the maxilla HP:0000327
40 high forehead HP:0000348
41 hearing impairment HP:0000365
42 low-set ears HP:0000369
43 convex nasal ridge HP:0000444
44 narrow nose HP:0000460
45 strabismus HP:0000486
46 ptosis HP:0000508
47 buphthalmos HP:0000557
48 shallow orbits HP:0000586
49 abnormality of the nasolacrimal system HP:0000614
50 brachydactyly syndrome HP:0001156
51 plagiocephaly HP:0001357
52 toe syndactyly HP:0001770
53 hallux valgus HP:0001822
54 intellectual disability, moderate HP:0002342
55 abnormality of pelvic girdle bone morphology HP:0002644
56 skull asymmetry HP:0002678
57 parietal foramina HP:0002697
58 radioulnar synostosis HP:0002974
59 breast carcinoma HP:0003002
60 long nose HP:0003189
61 clinodactyly of the 5th finger HP:0004209
62 short stature HP:0004322
63 flat forehead HP:0004425
64 coronal craniosynostosis HP:0004440
65 lambdoidal craniosynostosis HP:0004443
66 microtia HP:0008551
67 prominent crus of helix HP:0009899
68 partial duplication of the distal phalanx of the 2nd finger HP:0009951
69 partial duplication of the distal phalanx of the 3rd finger HP:0009968
70 absent first metatarsal HP:0010104
71 cleft of chin HP:0011323
72 flat face HP:0012368
73 abnormality of cardiovascular system morphology HP:0030680

Drugs & Therapeutics for Saethre-Chotzen Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Saethre-Chotzen Syndrome

Genetic Tests for Saethre-Chotzen Syndrome

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Genetic tests related to Saethre-Chotzen Syndrome:

id Genetic test Affiliating Genes
1 Saethre-Chotzen Syndrome25 23 TWIST1
2 Saethre-Chotzen Syndrome with Eyelid Anomalies25

Anatomical Context for Saethre-Chotzen Syndrome

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MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

34
Bone, Breast, Neutrophil

FMA organs/tissues related to Saethre-Chotzen Syndrome:

17
Skull

Animal Models for Saethre-Chotzen Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

39 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3CBL, FGFR2, MSX2, RECQL4
2MP:00053778.2CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
3MP:00036318.1CASP2, FGFR1, FGFR2, FGFR3, HAND2, MSX2
4MP:00053897.9CASP2, CBL, FGFR1, FGFR2, FGFR3, RUNX2
5MP:00053697.7CBL, FGFR1, FGFR2, HAND2, MSX2, RUNX2
6MP:00053917.5FGFR1, FGFR2, FGFR3, MSX2, RECQL4, RUNX2
7MP:00107717.5CBL, FGFR1, FGFR2, FGFR3, MSX2, RECQL4
8MP:00053857.5CBL, FGFR1, FGFR2, HAND2, MSX2, RUNX2
9MP:00053867.3CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
10MP:00053817.2FGFR1, FGFR2, FGFR3, HAND2, MSX2, RECQL4
11MP:00053826.9CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
12MP:00053846.7CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2
13MP:00053796.7CASP2, CBL, FGFR1, FGFR2, HAND2, MSX2
14MP:00107686.2CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2
15MP:00053876.2CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2
16MP:00053976.1CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2
17MP:00053785.9CBL, FGFR1, FGFR2, FGFR3, HAND2, IBSP
18MP:00053905.9CBL, FGFR1, FGFR2, FGFR3, HAND2, IBSP
19MP:00053715.6CBL, FGFR1, FGFR2, FGFR3, HAND2, IBSP

Publications for Saethre-Chotzen Syndrome

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Articles related to Saethre-Chotzen Syndrome:

(show top 50)    (show all 93)
idTitleAuthorsYear
1
New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis. (26114524)
2015
2
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
3
Interrelationship of cranial suture fusion, basicranial development, and resynostosis following suturectomy in twist1(+/-) mice, a murine model of Saethre-Chotzen syndrome. (22903506)
2012
4
Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome. (22569119)
2012
5
Prenatal sonographic diagnosis of familial Saethre-Chotzen syndrome. (21357567)
2011
6
Audiologic findings in Saethre-Chotzen syndrome. (21532428)
2011
7
Saethre-Chotzen syndrome: a case report. (19860490)
2010
8
Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. (20184424)
2010
9
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. (19373776)
2009
10
The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. (19952666)
2009
11
Discussion. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. (19483582)
2009
12
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. (19483581)
2009
13
Anesthesia in a child with Saethre-Chotzen syndrome. (18095973)
2008
14
Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter. (18019370)
2007
15
Women with Saethre-Chotzen syndrome are at increased risk of breast cancer. (17437280)
2007
16
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. (16251895)
2006
17
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma. (17074596)
2006
18
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. (16526917)
2006
19
In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome. (15781003)
2005
20
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. (15923834)
2005
21
Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities. (15735646)
2005
22
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations. (15151448)
2004
23
Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome. (15547403)
2004
24
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. (12612814)
2003
25
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. (14513358)
2003
26
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. (11977182)
2002
27
Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome. (12015302)
2002
28
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis. (11280946)
2001
29
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. (10094188)
1999
30
Dental findings in Saethre-Chotzen syndrome (acrocephalosyndactyly type III): report of case. (9617456)
1998
31
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. (9585583)
1998
32
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. (9580658)
1998
33
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. (8988166)
1997
34
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. (8988167)
1997
35
The cervical spine in Saethre-Chotzen syndrome. (9003917)
1997
36
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. (8723106)
1996
37
Possible genetic heterogeneity in the Saethre-Chotzen syndrome. (8698349)
1996
38
Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. (8188211)
1994
39
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. (8128964)
1994
40
Inadvertant dural puncture during caudal anaesthesia for Saethre-Chotzen syndrome. (1888000)
1991
41
Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? (2769726)
1989
42
Parietal foramina in the Saethre-Chotzen syndrome. (4078875)
1985
43
The concurrence of Saethre-Chotzen syndrome and malignancy in a family with in vitro immune dysfunction. (6093987)
1984
44
Dermatoglyphics in Saethre-Chotzen syndrome: a family study. (6671070)
1983
45
The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family. (7450776)
1980
46
Comparative dermatoglyphic analysis in two types of acrocephalosyndactyly: Saethre-Chotzen syndrome and Pfeiffer syndrome. (552891)
1979
47
Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations. (925822)
1977
48
Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia. (862213)
1977
49
Cephalic malformations in Saethre-Chotzen syndrome. Acrocephalosyndactyly type III. (981618)
1976
50
The Saethre-Chotzen syndrome. (1227525)
1975

Variations for Saethre-Chotzen Syndrome

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

68
id Symbol AA change Variation ID SNP ID
1TWIST1p.Gln119ProVAR_004495rs104894057
2TWIST1p.Leu131ProVAR_004496rs121909189
3TWIST1p.Ile156ValVAR_015219rs104894059

Clinvar genetic disease variations for Saethre-Chotzen Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.804_809delAGTGGT (p.Val269_Val270del)deletionPathogenicrs879253718GRCh37Chr 10, 123279623: 123279628
2FGFR3NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg)single nucleotide variantPathogenicrs4647924GRCh37Chr 4, 1803571: 1803571
3TWIST1NM_000474.3(TWIST1): c.308dupA (p.Tyr103Terfs)duplicationPathogenicrs121909186GRCh37Chr 7, 19156637: 19156637
4TWIST1NM_000474.3(TWIST1): c.356A> C (p.Gln119Pro)single nucleotide variantPathogenicrs104894057GRCh37Chr 7, 19156589: 19156589
5TWIST1NM_000474.3(TWIST1): c.309C> A (p.Tyr103Ter)single nucleotide variantPathogenicrs104894054GRCh37Chr 7, 19156636: 19156636
6TWIST1NM_000474.3(TWIST1): c.368C> A (p.Ser123Ter)single nucleotide variantPathogenicrs121909187GRCh37Chr 7, 19156577: 19156577
7TWIST1NM_000474.3(TWIST1): c.376G> T (p.Glu126Ter)single nucleotide variantPathogenicrs121909188GRCh37Chr 7, 19156569: 19156569
8TWIST1NM_000474.3(TWIST1): c.392T> C (p.Leu131Pro)single nucleotide variantPathogenicrs121909189GRCh37Chr 7, 19156553: 19156553
9TWIST1TWIST1, 21-BP DUPduplicationPathogenic
10TWIST1NM_000474.3(TWIST1): c.541G> T (p.Glu181Ter)single nucleotide variantPathogenicrs104894058GRCh37Chr 7, 19156404: 19156404
11TWIST1NM_000474.3(TWIST1): c.466A> G (p.Ile156Val)single nucleotide variantPathogenicrs104894059GRCh37Chr 7, 19156479: 19156479

Expression for genes affiliated with Saethre-Chotzen Syndrome

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

Pathways for genes affiliated with Saethre-Chotzen Syndrome

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

(show all 25)
idSuper pathwaysScoreTop Affiliating Genes
19.6FGFR1, FGFR2, FGFR3
2
Show member pathways
9.6FGFR1, FGFR2, FGFR3
39.6FGFR1, FGFR2, FGFR3
4
Show member pathways
9.6FGFR1, FGFR2, FGFR3
5
Show member pathways
9.6FGFR1, FGFR2, FGFR3
69.6FGFR1, FGFR2, FGFR3
7
Show member pathways
9.6FGFR1, FGFR2, FGFR3
89.6FGFR1, FGFR2, FGFR3
99.6FGFR1, FGFR2, FGFR3
109.5FGFR1, FGFR3, RUNX2
119.3BGLAP, RUNX2, TWIST1
129.2BGLAP, MSX2, RUNX2
139.2CASP2, FGFR1, FGFR2, FGFR3
149.1CBL, FGFR1, FGFR2, FGFR3
159.1CBL, FGFR1, FGFR2, FGFR3
16
Show member pathways
9.1CBL, FGFR1, FGFR2, FGFR3
179.1CBL, FGFR1, FGFR2, FGFR3
18
Show member pathways
9.1CBL, FGFR1, FGFR2, FGFR3
19
Show member pathways
9.1CBL, FGFR1, FGFR2, FGFR3
209.1FGFR1, FGFR2, FGFR3, IBSP
219.1BGLAP, IBSP, RUNX2
229.1BGLAP, IBSP, RUNX2
239.0FGFR1, FGFR2, FGFR3, MSX2, TWIST1
248.6CBL, FGFR1, TWIST1, TWIST2
258.5BGLAP, CBL, FGFR1, FGFR2, RUNX2

GO Terms for genes affiliated with Saethre-Chotzen Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1membrane-bounded vesicleGO:003198810.1BGLAP, IBSP
2nucleusGO:00056346.0CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2

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

(show top 50)    (show all 51)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.6FGFR1, FGFR2
2cardiac neural crest cell migration involved in outflow tract morphogenesisGO:000325310.6HAND2, TWIST1
3cardiac neural crest cell development involved in outflow tract morphogenesisGO:006130910.6HAND2, TWIST1
4positive regulation of transcription regulatory region DNA bindingGO:200067910.6HAND2, TWIST1
5outer ear morphogenesisGO:004247310.6FGFR1, TWIST1
6regulation of fibroblast growth factor receptor signaling pathwayGO:004003610.5FGFR2, RUNX2
7mesenchymal cell differentiationGO:004876210.5FGFR1, FGFR2
8cranial suture morphogenesisGO:006036310.5MSX2, TWIST1
9outflow tract septum morphogenesisGO:000314810.5FGFR2, MSX2
10positive regulation of cardiac muscle cell proliferationGO:006004510.5FGFR1, FGFR2
11stem cell differentiationGO:004886310.4MSX2, RUNX2
12branching involved in salivary gland morphogenesisGO:006044510.4FGFR1, FGFR2
13positive regulation of mesenchymal cell proliferationGO:000205310.4FGFR1, FGFR2
14embryonic hindlimb morphogenesisGO:003511610.4MSX2, TWIST1
15ventricular zone neuroblast divisionGO:002184710.3FGFR1, FGFR2
16chondrocyte developmentGO:000206310.3MSX2, RUNX2
17regulation of osteoblast differentiationGO:004566710.3FGFR2, RUNX2
18endochondral bone growthGO:000341610.3FGFR3, MSX2
19phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.2FGFR1, FGFR2, FGFR3
20phosphatidylinositol phosphorylationGO:004685410.2FGFR1, FGFR2, FGFR3
21regulation of phosphatidylinositol 3-kinase signalingGO:001406610.2FGFR1, FGFR2, FGFR3
22phosphatidylinositol-mediated signalingGO:004801510.1FGFR1, FGFR2, FGFR3
23positive regulation of phospholipase activityGO:001051810.1FGFR1, FGFR2, FGFR3
24endochondral ossificationGO:000195810.1FGFR3, RUNX2
25embryonic digit morphogenesisGO:004273310.1HAND2, MSX2, TWIST1
26regulation of bone mineralizationGO:003050010.0BGLAP, TWIST1
27skeletal system morphogenesisGO:004870510.0FGFR1, FGFR2, RUNX2
28protein autophosphorylationGO:004677710.0FGFR1, FGFR2, FGFR3
29peptidyl-tyrosine phosphorylationGO:001810810.0FGFR1, FGFR2, FGFR3
30embryonic forelimb morphogenesisGO:003511510.0MSX2, RUNX2, TWIST1
31bone developmentGO:006034810.0BGLAP, FGFR2, TWIST1
32chondrocyte differentiationGO:000206210.0FGFR1, FGFR3, RUNX2
33positive regulation of MAPK cascadeGO:00434109.9FGFR1, FGFR2, FGFR3
34embryonic cranial skeleton morphogenesisGO:00487019.9FGFR2, RUNX2, TWIST1
35bone morphogenesisGO:00603499.8FGFR2, FGFR3, MSX2
36in utero embryonic developmentGO:00017019.8FGFR1, FGFR2, HAND2, TWIST1
37osteoblast developmentGO:00020769.8BGLAP, MSX2, RUNX2
38lung-associated mesenchyme developmentGO:00604849.8FGFR1, FGFR2
39embryonic limb morphogenesisGO:00303269.8FGFR1, MSX2, TWIST1
40fibroblast growth factor receptor signaling pathwayGO:00085439.7CBL, FGFR1, FGFR2, FGFR3
41positive regulation of ERK1 and ERK2 cascadeGO:00703749.6FGFR2, FGFR3, HAND2
42odontogenesisGO:00424769.6BGLAP, FGFR2, MSX2, TWIST1
43orbitofrontal cortex developmentGO:00217699.6FGFR1, FGFR2
44negative regulation of osteoblast differentiationGO:00456689.4FGFR1, HAND2, TWIST1, TWIST2
45bone mineralizationGO:00302829.2BGLAP, FGFR2, FGFR3, IBSP
46cellular response to growth factor stimulusGO:00713639.2BGLAP, IBSP, MSX2, TWIST1
47skeletal system developmentGO:00015019.2BGLAP, FGFR1, FGFR3, RUNX2
48ossificationGO:00015039.1BGLAP, MSX2, RUNX2, TWIST1
49osteoblast differentiationGO:00016498.7BGLAP, IBSP, MSX2, RUNX2, TWIST1
50negative regulation of apoptotic processGO:00430668.3CBL, HAND2, MSX2, TWIST1, TWIST2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:004342510.2RUNX2, TWIST1
2fibroblast growth factor-activated receptor activityGO:000500710.2FGFR1, FGFR2, FGFR3
31-phosphatidylinositol-3-kinase activityGO:001630310.0FGFR1, FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.9FGFR1, FGFR2, FGFR3
5fibroblast growth factor bindingGO:00171349.7FGFR1, FGFR2, FGFR3
6Ras guanyl-nucleotide exchange factor activityGO:00050889.6FGFR1, FGFR2, FGFR3
7protein tyrosine kinase activityGO:00047139.3FGFR1, FGFR2, FGFR3

Sources for Saethre-Chotzen Syndrome

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