MCID: STH001
MIFTS: 60

Saethre-Chotzen Syndrome malady

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

Aliases & Classifications for Saethre-Chotzen Syndrome

About this section

Aliases & Descriptions for Saethre-Chotzen Syndrome:

Name: Saethre-Chotzen Syndrome 49 10 21 45 22 23 47 12 67 24 65
Saethre-Chotzen Syndrome with Eyelid Anomalies 49 11 24
Acrocephalosyndactyly Type Iii 10 21 22
Acs3 45 23 67
Acrocephaly, Skull Asymmetry, and Mild Syndactyly 45 23
Chotzen Syndrome 45 23
Acs Iii 23 67
Scs 23 67
 
Dysostosis Craniofacialis with Hypertelorism 23
Acrocephalosyndactyly, Type Iii 23
Acrocephalo-Syndactyly, Type 3 45
Acrocephalosyndactyly Type 3 67
Acrocephalosyndactyly Iii 23
Sakati Syndrome 65
Acs 3 45

Characteristics:

HPO:

61
saethre-chotzen syndrome:
Onset and clinical course: variable expressivity
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 101400
Disease Ontology10 DOID:14768
MeSH36 D000168
NCIt42 C75034
UMLS65 C0175699, C1275079

Summaries for Saethre-Chotzen Syndrome

About this section
NIH Rare Diseases:45 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. the signs and symptoms of saethre-chotzen syndrome vary widely, even among affected individuals in the same family. mutations in the twist1 gene cause saethre-chotzen syndrome. this 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. last updated: 4/22/2009

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 finger syndactyly, craniosynostosis and facial asymmetry. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways are Central carbon metabolism in cancer and Alzheimers Disease Pathway. Affiliated tissues include skull, bone and breast, and related mouse phenotypes are no phenotypic analysis and vision/eye.

Disease Ontology:10 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:67 Saethre-Chotzen syndrome: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.

Genetics Home Reference:23 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:49 101400

GeneReviews summary for NBK1189

Related Diseases for Saethre-Chotzen Syndrome

About this section

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 60)
idRelated DiseaseScoreTop Affiliating Genes
1jackson-weiss syndrome29.9FGFR1, 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
8breast cancer10.4
9phocomelia10.4
10baller-gerold syndrome10.3
11pfeiffer syndrome10.3
12synostosis10.3
13cervicitis10.3
14intracranial hypertension10.3
15scrapie10.3
16pfeiffer syndrome type 1, 2 and 310.3FGFR1, FGFR2
17corticosterone methyloxidase deficiency10.2CBL, RUNX2
18plagiocephaly and x-linked mental retardation10.2FGFR1, FGFR2, FGFR3
19flna-related periventricular nodular heterotopia10.2FGFR1, FGFR2, FGFR3
20hypogonadotropic hypogonadism 2 with or without anosmia10.2FGFR1, FGFR2, FGFR3
21renal cell carcinoma10.2
22crouzon syndrome10.2
23congenital adrenal hyperplasia10.2
24sensorineural hearing loss10.2
25fanconi syndrome10.2
26polydactyly10.2
27auralcephalosyndactyly10.2
28hyper ige syndrome10.2
29apert syndrome10.2FGFR1, FGFR2, FGFR3
30diverticulitis of colon10.2FGFR1, FGFR2, FGFR3
31encephalopathy10.1
32crouzon syndrome with acanthosis nigricans10.1FGFR1, FGFR2, FGFR3
33familial cervical artery dissection10.1FGFR3, TCF12
34thanatophoric dysplasia, type i10.1FGFR1, FGFR2, FGFR3
35pleuropneumonia10.1
36antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.1FGFR1, FGFR2, FGFR3
37distal monosomy 1q10.1FGFR3, TCF12, TWIST1
38cyclotropia10.1FGFR2, FGFR3
39prion disease10.1
40neonatal abstinence syndrome10.1FGFR1, RECQL4
41bladder cancer, somatic10.0FGFR1, FGFR2, FGFR3, TWIST1
42splenic sequestration10.0
43giant cell glioblastoma10.0FGFR1, FGFR3, TWIST1
44hemoglobinopathy10.0
45autosomal recessive disease10.0FGFR2, FGFR3, MSX2
46secondary sclerosing cholangitis10.0
47acute chest syndrome9.9
48beare-stevenson cutis gyrata syndrome9.8FGFR1, FGFR2, FGFR3, MSX2
49insulin-like growth factor i9.8
50angina pectoris9.8

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



Diseases related to saethre-chotzen syndrome

Symptoms for Saethre-Chotzen Syndrome

About this section

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

Drugs & Therapeutics for Saethre-Chotzen Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Saethre-Chotzen Syndrome

Genetic Tests for Saethre-Chotzen Syndrome

About this section

Genetic tests related to Saethre-Chotzen Syndrome:

id Genetic test Affiliating Genes
1 Saethre-Chotzen Syndrome22 TWIST1

Anatomical Context for Saethre-Chotzen Syndrome

About this section

MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

33
Bone, Breast, Prostate, T cells, Endothelial, Salivary gland, Testes

FMA organs/tissues related to Saethre-Chotzen Syndrome:

16
Skull

Animal Models for Saethre-Chotzen Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

38 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.0FGFR1, FGFR2, FGFR3, HAND2, RUNX2, TCF3
2MP:00053918.9FGFR1, FGFR2, FGFR3, MSX2, RECQL4, RUNX2
3MP:00053808.8FGFR1, FGFR2, HAND2, MSX2, RECQL4, TCF3
4MP:00053778.7CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
5MP:00028738.7FGFR1, FGFR2, FGFR3, HAND2, MSX2, TCF3
6MP:00053698.5CBL, FGFR1, FGFR2, HAND2, MSX2, RUNX2
7MP:00053858.4CBL, FGFR1, FGFR2, HAND2, MSX2, RUNX2
8MP:00053818.3FGFR1, FGFR2, FGFR3, HAND2, MSX2, RECQL4
9MP:00053868.2CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
10MP:00053898.1CASP2, CBL, FGFR1, FGFR2, FGFR3, RUNX2
11MP:00107717.9CBL, FGFR1, FGFR2, FGFR3, MSX2, RECQL4
12MP:00053827.9CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
13MP:00053907.6CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
14MP:00036317.5CASP2, FGFR1, FGFR2, FGFR3, HAND2, MSX2
15MP:00053717.5CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
16MP:00053847.2CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2
17MP:00053797.0CASP2, CBL, FGFR1, FGFR2, HAND2, MSX2
18MP:00107686.4CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2
19MP:00053786.2ACSL3, CBL, FGFR1, FGFR2, FGFR3, HAND2
20MP:00053875.9ACSL3, CASP2, CBL, FGFR1, FGFR2, FGFR3
21MP:00053975.8ACSL3, CASP2, CBL, FGFR1, FGFR2, FGFR3

Publications for Saethre-Chotzen Syndrome

About this section

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
Prenatal sonographic diagnosis of familial Saethre-Chotzen syndrome. (21357567)
2011
4
Audiologic findings in Saethre-Chotzen syndrome. (21532428)
2011
5
Saethre-Chotzen syndrome: a case report. (19860490)
2010
6
Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer. (19025794)
2009
7
The frequency of palatal anomalies in Saethre-Chotzen syndrome. (19642760)
2009
8
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. (19373776)
2009
9
Saethre-Chotzen syndrome and anesthesia. (18950351)
2008
10
Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter. (18019370)
2007
11
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. (16251895)
2006
12
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma. (17074596)
2006
13
Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome. (15802514)
2005
14
Saethre-Chotzen syndrome: a case report. (16503569)
2005
15
In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome. (15781003)
2005
16
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations. (15151448)
2004
17
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. (12612814)
2003
18
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. (14513358)
2003
19
A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation. (11772178)
2002
20
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. (11977182)
2002
21
Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation. (11854168)
2002
22
Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. (12221714)
2002
23
Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene. (11746028)
2001
24
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. (11248247)
2001
25
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis. (11280946)
2001
26
Dental findings in Saethre-Chotzen syndrome (acrocephalosyndactyly type III): report of case. (9617456)
1998
27
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. (9585583)
1998
28
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. (8988166)
1997
29
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. (8988167)
1997
30
Translocation breakpoint maps 5 kb 3-prime from TWIST in a patient affected with Saethre-Chotzen syndrome. (9215678)
1997
31
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. (8723106)
1996
32
Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study. (9118134)
1996
33
Possible genetic heterogeneity in the Saethre-Chotzen syndrome. (8698349)
1996
34
Familial Saethre-Chotzen syndrome with or without polydactyly of the toe. (7793794)
1995
35
Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. (7783164)
1995
36
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
37
Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient. (7977380)
1994
38
Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. (8266989)
1993
39
Saethre-Chotzen syndrome with trigonocephaly. (1481819)
1992
40
Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? (2769726)
1989
41
Parietal foramina in the Saethre-Chotzen syndrome. (4078875)
1985
42
Pfeiffer syndrome or Saethre-Chotzen syndrome? (4087491)
1985
43
The concurrence of Saethre-Chotzen syndrome and malignancy in a family with in vitro immune dysfunction. (6093987)
1984
44
Parietal foramina in Saethre-Chotzen syndrome. (6502651)
1984
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
Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations. (925822)
1977
47
Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia. (862213)
1977
48
Cephalic malformations in Saethre-Chotzen syndrome. Acrocephalosyndactyly type III. (981618)
1976
49
The Saethre-Chotzen syndrome. (1227525)
1975
50
The Saethre-Chotzen syndrome. (4643612)
1972

Variations for Saethre-Chotzen Syndrome

About this section

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

67
id Symbol AA change Variation ID SNP ID
1TWIST1p.Gln119ProVAR_004495
2TWIST1p.Leu131ProVAR_004496
3TWIST1p.Ile156ValVAR_015219

Clinvar genetic disease variations for Saethre-Chotzen Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2FGFR2, VAL-VAL DELdeletionPathogenic
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

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

Pathways for genes affiliated with Saethre-Chotzen Syndrome

About this section

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

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.7FGFR1, FGFR2, FGFR3
29.7FGFR1, FGFR2, FGFR3
39.7FGFR1, FGFR2, FGFR3
4
Show member pathways
9.7FGFR1, FGFR2, FGFR3
59.7FGFR1, FGFR3, RUNX2
6
Show member pathways
9.4CBL, FGFR1, FGFR2, FGFR3
7
Show member pathways
9.4CBL, FGFR1, FGFR2, FGFR3
89.3CBL, FGFR1, FGFR2, RUNX2
99.3RUNX2, TCF3, TWIST1
109.3CBL, FGFR1, TWIST1, TWIST2
119.2FGFR1, FGFR2, FGFR3, MSX2, TWIST1
129.1FGFR1, FGFR2, FGFR3, TCF3
13
Show member pathways
8.2CASP2, FGFR1, FGFR2, FGFR3, TCF12, TCF3

GO Terms for genes affiliated with Saethre-Chotzen Syndrome

About this section

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1endochondral bone growthGO:000341610.7FGFR3, MSX2
2cardiac neural crest cell development involved in outflow tract morphogenesisGO:006130910.7HAND2, TWIST1
3fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.7FGFR1, FGFR2
4lung-associated mesenchyme developmentGO:006048410.6FGFR1, FGFR2
5regulation of fibroblast growth factor receptor signaling pathwayGO:004003610.6FGFR2, RUNX2
6endochondral ossificationGO:000195810.6FGFR3, RUNX2
7embryonic hindlimb morphogenesisGO:003511610.5MSX2, TWIST1
8positive regulation of cell cycleGO:004578710.5FGFR1, FGFR2
9positive regulation of mesenchymal cell proliferationGO:000205310.5FGFR1, FGFR2
10stem cell differentiationGO:004886310.5MSX2, RUNX2
11positive regulation of cardiac muscle cell proliferationGO:006004510.5FGFR1, FGFR2
12negative regulation of osteoblast differentiationGO:004566810.4TWIST1, TWIST2
13branching involved in salivary gland morphogenesisGO:006044510.3FGFR1, FGFR2
14positive regulation of phospholipase activityGO:001051810.3FGFR1, FGFR2, FGFR3
15embryonic forelimb morphogenesisGO:003511510.3MSX2, TWIST1
16regulation of phosphatidylinositol 3-kinase signalingGO:001406610.3FGFR1, FGFR2, FGFR3
17phosphatidylinositol-mediated signalingGO:004801510.3FGFR1, FGFR2, FGFR3
18embryonic digit morphogenesisGO:004273310.3HAND2, MSX2, TWIST1
19phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.2FGFR1, FGFR2, FGFR3
20odontogenesisGO:004247610.2FGFR2, MSX2, TWIST1
21chondrocyte developmentGO:000206310.2MSX2, RUNX2
22bone mineralizationGO:003028210.2FGFR2, FGFR3
23embryonic cranial skeleton morphogenesisGO:004870110.2FGFR2, RUNX2, TWIST1
24skeletal system morphogenesisGO:004870510.1FGFR1, FGFR2, RUNX2
25protein autophosphorylationGO:004677710.1FGFR1, FGFR2, FGFR3
26ossificationGO:000150310.0MSX2, RUNX2, TWIST1
27Ras protein signal transductionGO:000726510.0FGFR1, FGFR2, FGFR3
28bone morphogenesisGO:006034910.0FGFR2, FGFR3, MSX2
29orbitofrontal cortex developmentGO:002176910.0FGFR1, FGFR2
30epidermal growth factor receptor signaling pathwayGO:00071739.9CBL, FGFR1, FGFR2, FGFR3
31embryonic limb morphogenesisGO:00303269.6FGFR1, MSX2, TWIST1
32negative regulation of transcription, DNA-templatedGO:00458929.5MSX2, RUNX2, TWIST1, TWIST2
33negative regulation of transcription from RNA polymerase II promoterGO:00001229.0FGFR1, FGFR2, MSX2, TCF3, TWIST1
34neurotrophin TRK receptor signaling pathwayGO:00480119.0CASP2, FGFR1, FGFR2, FGFR3
35positive regulation of transcription from RNA polymerase II promoterGO:00459448.6FGFR2, RUNX2, TCF12, TCF3, TWIST1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:000500710.6FGFR2, FGFR3
2protein tyrosine kinase activityGO:000471310.0FGFR1, FGFR2, FGFR3
3E-box bindingGO:00708889.9TCF12, TCF3
4RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.7MSX2, RUNX2, TCF3
5transcription factor activity, sequence-specific DNA bindingGO:00037009.0RUNX2, TCF12, TCF3
6protein homodimerization activityGO:00428038.8FGFR1, FGFR2, TCF12, TCF3
7transcription regulatory region DNA bindingGO:00442128.8HAND2, MSX2, RUNX2, TCF12, TCF3

Sources for Saethre-Chotzen Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet