MCID: STH001
MIFTS: 65

Saethre-Chotzen Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Eye diseases categories

Aliases & Classifications for Saethre-Chotzen Syndrome

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Aliases & Descriptions for Saethre-Chotzen Syndrome:

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


Classifications:



External Ids:

OMIM49 101400
Disease Ontology10 DOID:14768
NCIt42 C75034

Summaries for Saethre-Chotzen Syndrome

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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 pfeiffer 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 Akt Signaling Pathway and Central carbon metabolism in cancer. Affiliated tissues include skull, bone and breast, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

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.

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.

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.

Description from OMIM:49 101400

GeneReviews summary for scs

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 649)
idRelated DiseaseScoreTop Affiliating Genes
1jackson-weiss syndrome30.5FGFR1, FGFR2, FGFR3
2pfeiffer syndrome30.5FGFR1, FGFR2, FGFR3, RUNX2, TWIST1
3crouzon syndrome30.2FGFR1, FGFR2, FGFR3, MSX2
4bone structure disease30.0ALPP, IBSP, RUNX2
5osteomyelitis29.8COL1A2, FGFR3, RUNX2
6osteoporosis29.7ALPP, COL1A2, IBSP, RUNX2
7grade iii astrocytoma29.5FGFR1, FGFR3, TWIST1
8thanatophoric dysplasia, type i29.4CBL, FGFR1, FGFR2, FGFR3
9craniosynostosis10.9
10breast cancer10.6
11robinow-sorauf syndrome10.6
12saethre-chotzen syndrome, fgfr2-related10.6
13sc phocomelia syndrome10.5
14cervicitis10.5
15intracranial hypertension10.5
16synostosis10.5
17roberts syndrome10.5
18phocomelia10.5
19hypersensitivity reaction type ii disease10.5
20scrapie10.5
21gamma chain deficiency10.4
22connective tissue disease10.4
23spinal cord disease10.4
24sickle cell anemia10.4
25pain disorder10.4
26autoimmune disease 110.4
27renal cell carcinoma10.4
28baller-gerold syndrome10.4
29fanconi syndrome10.4
30polydactyly10.4
31sensorineural hearing loss10.4
32congenital adrenal hyperplasia10.4
33auralcephalosyndactyly10.4
34hyper ige syndrome10.4
35arthritis10.4
36enthesopathy10.4
37rheumatoid arthritis10.3
38joint disorders10.3
39autoimmune disease of musculoskeletal system10.3
40arthropathy10.3
41autoimmune disease 210.3
42autoimmune disease 410.3
43encephalopathy10.3
44p2y12 defect10.3FGFR3, TWIST1
45autoimmune disease 310.3
46chronic pain10.3
47hypersensitivity reaction type iv disease10.3
48back pain10.3
49burkitt lymphoma10.2
50pleuropneumonia10.2

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 76)
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 malformation of the heart and great vessels occasional (7.5%) HP:0002564
26 scoliosis occasional (7.5%) HP:0002650
27 radioulnar synostosis occasional (7.5%) HP:0002974
28 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
29 short stature occasional (7.5%) HP:0004322
30 cognitive impairment occasional (7.5%) HP:0100543
31 autosomal dominant inheritance HP:0000006
32 cleft palate HP:0000175
33 narrow palate HP:0000189
34 brachycephaly HP:0000248
35 oxycephaly HP:0000263
36 delayed cranial suture closure HP:0000270
37 malar flattening HP:0000272
38 low anterior hairline HP:0000294
39 hypertelorism HP:0000316
40 facial asymmetry HP:0000324
41 hypoplasia of the maxilla HP:0000327
42 high forehead HP:0000348
43 hearing impairment HP:0000365
44 low-set ears HP:0000369
45 convex nasal ridge HP:0000444
46 narrow nose HP:0000460
47 strabismus HP:0000486
48 ptosis HP:0000508
49 buphthalmos HP:0000557
50 shallow orbits HP:0000586
51 abnormality of the nasolacrimal system HP:0000614
52 brachydactyly syndrome HP:0001156
53 plagiocephaly HP:0001357
54 toe syndactyly HP:0001770
55 hallux valgus HP:0001822
56 intellectual disability, moderate HP:0002342
57 malformation of the heart and great vessels HP:0002564
58 abnormality of pelvic girdle bone morphology HP:0002644
59 skull asymmetry HP:0002678
60 parietal foramina HP:0002697
61 radioulnar synostosis HP:0002974
62 breast carcinoma HP:0003002
63 long nose HP:0003189
64 variable expressivity HP:0003828
65 clinodactyly of the 5th finger HP:0004209
66 short stature HP:0004322
67 flat forehead HP:0004425
68 coronal craniosynostosis HP:0004440
69 lambdoidal craniosynostosis HP:0004443
70 microtia HP:0008551
71 prominent crus of helix HP:0009899
72 partial duplication of the distal phalanx of the 2nd finger HP:0009951
73 partial duplication of the distal phalanx of the 3rd finger HP:0009968
74 absent first metatarsal HP:0010104
75 cleft of chin HP:0011323
76 flat face HP:0012368

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 Syndrome22 24 TWIST1

Anatomical Context for Saethre-Chotzen Syndrome

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MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

33
Bone, Breast, Heart, Neutrophil, Eye

FMA organs/tissues related to Saethre-Chotzen Syndrome:

16
Skull

Animal Models for Saethre-Chotzen Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

38 (show all 23)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.8CBL, FGFR2, MSX2, RECQL4
2MP:00053778.5CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
3MP:00053708.3CASP8, CBL, FGFR2, HAND2, RUNX2, TWIST2
4MP:00053918.2FGFR1, FGFR2, FGFR3, MSX2, RECQL4, RUNX2
5MP:00053888.2CASP8, CBL, FGFR2, FGFR3, RUNX2, TWIST2
6MP:00053808.0ALPP, CASP8, FGFR1, FGFR2, HAND2, MSX2
7MP:00053817.9FGFR1, FGFR2, FGFR3, HAND2, MSX2, RECQL4
8MP:00028737.8ALPP, COL1A2, FGFR1, FGFR2, FGFR3, HAND2
9MP:00036317.8CASP2, CASP8, FGFR1, FGFR2, FGFR3, HAND2
10MP:00053827.6CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
11MP:00053867.5CBL, COL1A2, FGFR1, FGFR2, FGFR3, HAND2
12MP:00053797.2CASP2, CASP8, CBL, FGFR1, FGFR2, MSX2
13MP:00053697.0CASP8, CBL, COL1A2, FGFR1, FGFR2, HAND2
14MP:00053857.0CASP8, CBL, COL1A2, FGFR1, FGFR2, HAND2
15MP:00053906.8CBL, COL1A2, FGFR1, FGFR2, FGFR3, HAND2
16MP:00053716.8CBL, COL1A2, FGFR1, FGFR2, FGFR3, HAND2
17MP:00107716.8CASP8, CBL, COL1A2, FGFR1, FGFR2, FGFR3
18MP:00053976.5CASP2, CASP8, CBL, FGFR2, FGFR3, HAND2
19MP:00053876.3CASP2, CASP8, CBL, FGFR1, FGFR2, FGFR3
20MP:00053846.3CASP2, CASP8, CBL, COL1A2, FGFR1, FGFR2
21MP:00053785.5ALPP, CASP8, CBL, COL1A2, FGFR1, FGFR2
22MP:00107685.4ALPP, CASP2, CASP8, CBL, COL1A2, FGFR1

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
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

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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

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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 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7FGFR1, FGFR2, FGFR3
29.7FGFR1, FGFR2, FGFR3
3
Angiogenesis (CST)
Show member pathways
9.7FGFR1, FGFR2, FGFR3
4
Show member pathways
9.7FGFR1, FGFR2, FGFR3
59.7FGFR1, FGFR2, FGFR3
69.7FGFR1, FGFR2, FGFR3
79.7FGFR1, FGFR3, RUNX2
89.4COL1A2, IBSP, RUNX2
99.4CBL, FGFR1, FGFR2, FGFR3
10
Show member pathways
9.4CBL, FGFR1, FGFR2, FGFR3
11
Show member pathways
9.4CBL, FGFR1, FGFR2, FGFR3
129.3CBL, FGFR1, FGFR2, RUNX2
139.2FGFR1, FGFR2, FGFR3, MSX2, TWIST1
14
Show member pathways
9.1CASP8, FGFR1, FGFR2, FGFR3
158.9COL1A2, FGFR1, FGFR2, FGFR3, IBSP
168.8CBL, FGFR1, TWIST1, TWIST2
178.8CASP8, CBL, FGFR1, FGFR2, FGFR3
188.7CASP2, CASP8, FGFR1, FGFR2, FGFR3

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
1nucleusGO:00056345.8ARID1B, CASP2, CASP8, CBL, FGFR1, FGFR2

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

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1cardiac neural crest cell migration involved in outflow tract morphogenesisGO:000325310.7HAND2, TWIST1
2cardiac neural crest cell development involved in outflow tract morphogenesisGO:006130910.7HAND2, TWIST1
3cranial suture morphogenesisGO:006036310.7MSX2, TWIST1
4positive regulation of transcription regulatory region DNA bindingGO:200067910.7HAND2, TWIST1
5orbitofrontal cortex developmentGO:002176910.7FGFR1, FGFR2
6ventricular zone neuroblast divisionGO:002184710.7FGFR1, FGFR2
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.7FGFR1, FGFR2
8positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.6FGFR1, FGFR3
9regulation of fibroblast growth factor receptor signaling pathwayGO:004003610.6FGFR2, RUNX2
10outflow tract septum morphogenesisGO:000314810.6FGFR2, MSX2
11outer ear morphogenesisGO:004247310.6FGFR1, TWIST1
12osteoblast developmentGO:000207610.6MSX2, RUNX2
13positive regulation of cardiac muscle cell proliferationGO:006004510.6FGFR1, FGFR2
14lens fiber cell developmentGO:007030710.6FGFR2, FGFR3
15regulation of osteoblast differentiationGO:004566710.6FGFR2, RUNX2
16negative regulation of mitotic nuclear divisionGO:004583910.6FGFR2, FGFR3
17lung-associated mesenchyme developmentGO:006048410.6FGFR1, FGFR2
18negative regulation of smoothened signaling pathwayGO:004587910.5FGFR3, RUNX2
19mesenchymal cell differentiationGO:004876210.5FGFR1, FGFR2
20branching involved in salivary gland morphogenesisGO:006044510.5FGFR1, FGFR2
21endochondral bone growthGO:000341610.5FGFR3, MSX2
22chondrocyte developmentGO:000206310.4MSX2, RUNX2
23embryonic forelimb morphogenesisGO:003511510.3MSX2, RUNX2, TWIST1
24positive regulation of MAPK cascadeGO:004341010.3FGFR1, FGFR2, FGFR3
25embryonic digit morphogenesisGO:004273310.2HAND2, MSX2, TWIST1
26phosphatidylinositol-mediated signalingGO:004801510.2FGFR1, FGFR2, FGFR3
27positive regulation of phospholipase activityGO:001051810.2FGFR1, FGFR2, FGFR3
28negative regulation of molecular functionGO:004409210.2TWIST1, TWIST2
29embryonic limb morphogenesisGO:003032610.1FGFR1, MSX2, TWIST1
30bone morphogenesisGO:006034910.1FGFR2, FGFR3, MSX2
31cellular response to growth factor stimulusGO:007136310.0IBSP, MSX2, TWIST1
32peptidyl-tyrosine phosphorylationGO:001810810.0FGFR1, FGFR2, FGFR3
33execution phase of apoptosisGO:009719410.0CASP2, CASP8
34bone mineralizationGO:003028210.0FGFR2, FGFR3, IBSP
35in utero embryonic developmentGO:00017019.9FGFR1, FGFR2, HAND2, TWIST1
36odontogenesisGO:00424769.9COL1A2, FGFR2, MSX2, TWIST1
37chondrocyte differentiationGO:00020629.7FGFR1, FGFR3, RUNX2
38skeletal system morphogenesisGO:00487059.7FGFR1, FGFR2, RUNX2
39fibroblast growth factor receptor signaling pathwayGO:00085439.6CBL, FGFR1, FGFR2, FGFR3
40neurotrophin TRK receptor signaling pathwayGO:00480119.5CASP2, FGFR1, FGFR2, FGFR3
41angiogenesisGO:00015259.5CASP8, FGFR1, FGFR2, HAND2
42ossificationGO:00015039.5IBSP, MSX2, RUNX2, TWIST1
43negative regulation of osteoblast differentiationGO:00456689.4FGFR1, HAND2, TWIST1, TWIST2
44embryonic cranial skeleton morphogenesisGO:00487019.3FGFR2, RUNX2, TWIST1, TWIST2
45skeletal system developmentGO:00015019.1COL1A2, FGFR1, FGFR3, RUNX2
46epidermal growth factor receptor signaling pathwayGO:00071739.1CBL, FGFR1, FGFR2, FGFR3
47negative regulation of apoptotic processGO:00430668.9CBL, HAND2, MSX2, TWIST1, TWIST2
48osteoblast differentiationGO:00016498.9IBSP, MSX2, RUNX2, TWIST1, TWIST2
49negative regulation of transcription from RNA polymerase II promoterGO:00001228.4FGFR1, FGFR2, FGFR3, MSX2, TWIST1, TWIST2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:004342510.4RUNX2, TWIST1
2fibroblast growth factor-activated receptor activityGO:000500710.3FGFR1, FGFR2, FGFR3
3fibroblast growth factor bindingGO:001713410.2FGFR1, FGFR2, FGFR3
4cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:00971999.8CASP2, CASP8
5cysteine-type endopeptidase activity involved in apoptotic processGO:00971539.8CASP2, CASP8
6protein tyrosine kinase activityGO:00047139.6FGFR1, FGFR2, FGFR3
7transcription factor bindingGO:00081349.1HAND2, MSX2, RUNX2, TWIST1
8protein domain specific bindingGO:00199048.7CASP2, RUNX2, TWIST1, TWIST2

Sources for Saethre-Chotzen Syndrome

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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