SCS
MCID: STH001
MIFTS: 65

Saethre-Chotzen Syndrome (SCS) malady

Eye, Bone, Fetal, Cancer, Blood categories

Summaries for Saethre-Chotzen Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Saethre-Chotzen Syndrome, also known as acs3, is related to saethre-chotzen syndrome with eyelid anomalies and jackson-weiss syndrome, and has symptoms including skull/cranial anomalies, craniostenosis/craniosynostosis/sutural synostosis and facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (twist basic helix-loop-helix transcription factor 1), and among its related pathways are Sorafenib Pharmacodynamics and Signaling by FGFR1 mutants. The compounds SU4984 and su 5402 have been mentioned in the context of this disorder. Affiliated tissues include skull and breast, and related mouse phenotypes are muscle and hearing/vestibular/ear.

Disease Ontology:8 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:21 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:47 101400

GeneReviews summary for scs

Aliases & Classifications for Saethre-Chotzen Syndrome

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 62UMLS via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Eye, Bone, Blood


Characteristics (Orphanet epidemiological data):

49
saethre-chotzen syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

saethre-chotzen syndrome 8 19 43 20 22 21 47 45 49 61
acs3 43 21 49
acrocephaly, skull asymmetry, and mild syndactyly 43 21
chotzen syndrome 43 21
scs 21 49
dysostosis craniofacialis with hypertelorism 21
acrocephalosyndactyly, type iii 21
acrocephalosyndactyly type iii 19
acrocephalo-syndactyly, type 3 43
acrocephalosyndactyly type 3 49
acrocephalosyndactyly iii 21
hemoglobin sc disease 61
sc disease 45
acs iii 21
acs 3 43


External Ids:

Disease Ontology8 DOID:14768
OMIM47 101400
NCIt40 C75034
UMLS via Orphanet62 C0175699
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet58 83015004

Related Diseases for Saethre-Chotzen Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Saethre-Chotzen Syndrome family:

saethre-chotzen syndrome with eyelid anomalies

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

(show top 50)    (show all 117)
idRelated DiseaseScoreTop Affiliating Genes
1saethre-chotzen syndrome with eyelid anomalies30.6IST1, TWIST1
2jackson-weiss syndrome30.6FGFR2, FGFR1, FGFR3
3muenke syndrome30.6TWIST1, FGFR3, FGFR1, FGFR2
4crouzon syndrome30.4FGFR2, FGFR1, FGFR3, MSX2
5polydactyly30.4FGFR2, HAND2
6synostosis30.4RECQL4, FGFR2, FGFR1, FGFR3, MSX2, TWIST1
7adenocarcinoma29.8FGFR1, FGFR2
8hemoglobin d disease10.7
9n syndrome10.7
10hemoglobin c disease10.7
11roberts syndrome10.7
12fg syndrome10.5
13scrapie10.5
14sickle cell anemia10.5
15splenic sequestration10.5
16splenic disease10.5
17acute chest syndrome10.5
18micro syndrome10.5
19saethre-chotzen syndrome, fgfr2-related10.5
20bovine spongiform encephalopathy10.4
21pleuropneumonia10.3
22sensorineural hearing loss10.3
23congenital adrenal hyperplasia10.3
24fanconi syndrome10.3
25char syndrome10.3
26robinow syndrome10.3
27robinow sorauf syndrome10.3
28auralcephalosyndactyly10.3
29gorlin chaudhry moss syndrome10.3
30null syndrome10.3
31sc phocomelia syndrome10.2
32central retinal artery occlusion10.2
33hemoglobin e disease10.2
34exophthalmos10.2
35splenic infarction10.2
36hereditary spherocytosis10.2
37asthma10.2
38sepsis10.2
39sickle cell disease10.1
40angina pectoris10.0
41age related macular degeneration10.0
42pelizaeus-merzbacher disease10.0
43adenoma10.0
44spinal cord injury10.0
45osteoglophonic dysplasia10.0FGFR1
46cleft lip10.0FGFR1
47beare-stevenson cutis gyrata syndrome10.0FGFR2
48pseudohypoparathyroidism10.0BGLAP
49sarcoma10.0TWIST1
50bladder transitional cell papilloma10.0FGFR3

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



Diseases related to saethre-chotzen syndrome

Clinical Features for Saethre-Chotzen Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

101400

Clinical synopsis from OMIM:

101400

Symptoms:

49 (show all 38)
  • skull/cranial anomalies
  • craniostenosis/craniosynostosis/sutural synostosis
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • syndactyly of fingers/interdigital palm
  • autosomal dominant inheritance
  • low hair line-front
  • hypertelorism
  • strabismus/squint
  • ptosis
  • beaked nose
  • external ear anomalies
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • external auditory canal atresia/stenosis/agenesis
  • short hand/brachydactyly
  • simian crease/transverse/unique palmar crease
  • dystonia/torticollis/writer's cramp/blepharospasms
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • hearing loss/hypoacusia/deafness
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • scoliosis
  • abnormal vertebral size/shape
  • radioulnar synostosis
  • hallux valgus
  • apnea/sleep apnea
  • congenital cardiac anomaly/malformation/cardiopathy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • facial pain/cephalalgia/migraine
  • cranial hypertension
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • early death/lethality

Drugs & Therapeutics for Saethre-Chotzen Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Saethre-Chotzen Syndrome

Drug clinical trials:

Search ClinicalTrials for Saethre-Chotzen Syndrome

Search NIH Clinical Center for Saethre-Chotzen Syndrome

Search CenterWatch for Saethre-Chotzen Syndrome

Genetic Tests for Saethre-Chotzen Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Saethre-Chotzen Syndrome:

id Genetic test Affiliating Genes
1 Saethre-chotzen Syndrome20 22 TWIST1

Anatomical Context for Saethre-Chotzen Syndrome

Sources:
14FMA, 33MalaCards
See all sources

MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

33
Breast

FMA organs/tissues related to Saethre-Chotzen Syndrome:

14
Skull

Animal Models for Saethre-Chotzen Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

37 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.3RUNX2, HAND2, FGFR1, MSX2, TWIST2, TWIST1
2MP:00053779.2HAND2, CBL, FGFR2, FGFR1, FGFR3, MSX2
3MP:00053799.1MSX2, FGFR1, FGFR2, CBL, CASP2, RUNX2
4MP:00053818.8RUNX2, HAND2, RECQL4, FGFR2, FGFR1, FGFR3
5MP:00107718.6RUNX2, CBL, RECQL4, FGFR2, FGFR1, FGFR3
6MP:00053918.6RUNX2, RECQL4, FGFR2, FGFR1, FGFR3, MSX2
7MP:00053718.6TWIST1, RUNX2, HAND2, CBL, RECQL4, FGFR2
8MP:00053828.6RUNX2, HAND2, CBL, RECQL4, FGFR2, FGFR1
9MP:00053908.6RECQL4, CBL, HAND2, RUNX2, FGFR2, FGFR1
10MP:00053978.1RUNX2, CASP2, HAND2, CBL, RECQL4, FGFR2
11MP:00053848.0RUNX2, CASP2, FERD3L, HAND2, CBL, RECQL4
12MP:00053857.9RUNX2, HAND2, SNX13, CBL, FGFR2, FGFR1
13MP:00053807.6FERD3L, HAND2, SNX13, MAPKAPK3, RECQL4, FGFR2
14MP:00036317.4RUNX2, CASP2, FERD3L, HAND2, SNX13, FGFR2
15MP:00053877.3CBL, MAPKAPK3, HAND2, CASP2, RUNX2, RECQL4
16MP:00053787.2RUNX2, HAND2, SNX13, CBL, RECQL4, FGFR2
17MP:00107686.8MAPKAPK3, SNX13, HAND2, CASP2, RUNX2, CBL

Publications for Saethre-Chotzen Syndrome

Sources:
51PubMed
See all sources

Articles related to Saethre-Chotzen Syndrome:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
Interrelationship of cranial suture fusion, basicranial development, and resynostosis following suturectomy in twist1(+/-) mice, a murine model of Saethre-Chotzen syndrome. (22903506)
2012
2
Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome. (22569119)
2012
3
Prenatal sonographic diagnosis of familial Saethre-Chotzen syndrome. (21357567)
2011
4
Saethre-Chotzen syndrome: a case report. (19860490)
2010
5
Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. (20184424)
2010
6
The frequency of palatal anomalies in Saethre-Chotzen syndrome. (19642760)
2009
7
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. (19373776)
2009
8
The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. (19952666)
2009
9
Discussion. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. (19483582)
2009
10
Saethre-Chotzen syndrome and anesthesia. (18950351)
2008
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
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. (16526917)
2006
14
Saethre-Chotzen syndrome: a case report. (16503569)
2005
15
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. (15923834)
2005
16
Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities. (15735646)
2005
17
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations. (15151448)
2004
18
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (12791045)
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
Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome. (12015302)
2002
22
Saethre-Chotzen syndrome presenting with incomplete renal Fanconi syndrome. (12218332)
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
Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome. (11342579)
2001
25
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. (9580658)
1998
26
A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. (9792855)
1998
27
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. (8988166)
1997
28
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. (8988167)
1997
29
Translocation breakpoint maps 5 kb 3-prime from TWIST in a patient affected with Saethre-Chotzen syndrome. (9215678)
1997
30
The cervical spine in Saethre-Chotzen syndrome. (9003917)
1997
31
Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study. (9118134)
1996
32
The hands in Saethre-Chotzen syndrome. (8897212)
1996
33
Familial Saethre-Chotzen syndrome with or without polydactyly of the toe. (7793794)
1995
34
Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. (7783164)
1995
35
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
36
Saethre-Chotzen syndrome. (8064818)
1994
37
Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2. (7987323)
1994
38
Inadvertant dural puncture during caudal anaesthesia for Saethre-Chotzen syndrome. (1888000)
1991
39
Saethre-Chotzen syndrome associated with defective neutrophil chemotaxis. (2333756)
1990
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
A family with the Saethre-Chotzen syndrome. (4073118)
1985
44
The concurrence of Saethre-Chotzen syndrome and malignancy in a family with in vitro immune dysfunction. (6093987)
1984
45
Parietal foramina in Saethre-Chotzen syndrome. (6502651)
1984
46
The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family. (7450776)
1980
47
Comparative dermatoglyphic analysis in two types of acrocephalosyndactyly: Saethre-Chotzen syndrome and Pfeiffer syndrome. (552891)
1979
48
Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia. (862213)
1977
49
Picture of the month. Acrocephalosyndactyly type Saethre-Chotzen (Saethre-Chotzen syndrome). (1119458)
1975
50
The Saethre-Chotzen syndrome. (4643612)
1972

Genetic Variations for Saethre-Chotzen Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Saethre-Chotzen Syndrome:

63
id Symbol AA change Variation SNP ID
1TWIST1p.Gln119ProVAR_004495
2TWIST1p.Leu131ProVAR_004496
3TWIST1p.Ile156ValVAR_015219

Expression for genes affiliated with Saethre-Chotzen Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Saethre-Chotzen Syndrome

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

Pathways for genes affiliated with Saethre-Chotzen Syndrome

Sources:
50PharmGKB, 54Reactome, 52QIAGEN, 53R&D Systems, 4Cell Signaling Technology, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 56SinoBiological
See all sources

Pathways related to Saethre-Chotzen Syndrome according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9FGFR3, FGFR1, FGFR2
2
Hide members
9.9FGFR3, FGFR1, FGFR2
39.9FGFR3, FGFR1, FGFR2
49.9FGFR2, FGFR1, FGFR3
5
Hide members
9.9FGFR3, FGFR1, FGFR2
69.9FGFR3, FGFR1, FGFR2
79.8RUNX2, FGFR1, FGFR3
89.7BGLAP, RUNX2, TWIST1
9
Development FGF-family signaling
Hide members
9.6CBL, FGFR2, FGFR1, FGFR3
10
Hide members
9.6CBL, FGFR2, FGFR1, FGFR3
11
Hide members
9.6CBL, FGFR2, FGFR1, FGFR3
12
Hide members
9.6CBL, FGFR2, FGFR1, FGFR3
139.6FGFR3, FGFR1, FGFR2, CBL
14
Hide members
9.6FGFR3, FGFR1, FGFR2, CBL
159.6FGFR3, FGFR1, FGFR2, CBL
169.6TWIST1, TWIST2, FGFR1, CBL
179.5FGFR2, FGFR1, FGFR3, MSX2, TWIST1
18
Hide members
9.4CASP2, CBL, FGFR2, FGFR1, FGFR3
19
Hide members
9.3FGFR3, FGFR1, FGFR2, MAPKAPK3
209.2FGFR1, FGFR2, CBL, RUNX2, BGLAP
21
Hide members
9.2CASP2, MAPKAPK3, FGFR2, FGFR1
22
Hide members
9.1HAND2, MAPKAPK3, FGFR2, FGFR1, FGFR3
23
Hide members
8.7CASP2, MAPKAPK3, CBL, FGFR2, FGFR1, FGFR3
24
Hide members
8.7CASP2, MAPKAPK3, CBL, FGFR2, FGFR1, FGFR3

Compounds for genes affiliated with Saethre-Chotzen Syndrome

Sources:
11DrugBank, 60Tocris Bioscience, 45Novoseek, 50PharmGKB, 24HMDB
See all sources

Compounds related to Saethre-Chotzen Syndrome according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1SU49841110.4FGFR1, FGFR2
2su 54026010.2FGFR3, FGFR2, FGFR1
3pd 1615706010.2FGFR2, FGFR1, FGFR3
4fiin 1 hydrochloride6010.2FGFR2, FGFR1, FGFR3
5su54024510.2FGFR3, FGFR1, FGFR2
6pd 17307445 6011.2FGFR2, FGFR1, FGFR3
7palifermin45 1111.2FGFR3, FGFR1, FGFR2
8Ponatinib 1110.2FGFR2, FGFR1, FGFR3
9alizarin4510.0RUNX2, BGLAP
10phenylalanine459.8CBL, FGFR2, FGFR1, FGFR3
11phosphotyrosine459.8CBL, FGFR2, FGFR1, FGFR3
12ribonucleic acid459.7RUNX2, CASP2, FGFR2, FGFR1
13steroid459.5MSX2, FGFR2, CASP2, RUNX2
14oligonucleotide459.4RUNX2, CASP2, FGFR2, FGFR1, FGFR3, MSX2
15paclitaxel45 50 1111.3CASP2, FGFR2, FGFR1, TWIST1
16h2o2459.3BGLAP, CASP2, CBL, RECQL4, FGFR2, FGFR1
17sb 20358045 6010.1BGLAP, RUNX2, MAPKAPK3, FGFR1
18retinoic acid45 249.9BGLAP, RUNX2, CASP2, CBL, FGFR2, FGFR1
19cysteine458.9BGLAP, CASP2, CBL, FGFR2, FGFR1, FGFR3
20tyrosine458.8SNX13, CBL, FGFR2, FGFR1, FGFR3, TWIST1
21Adenosine triphosphate11 249.5PRPS1L1, MAPKAPK3, CBL, FGFR2, FGFR3, ACSL3
22serine458.4BGLAP, RUNX2, CASP2, MAPKAPK3, CBL, FGFR2

GO Terms for genes affiliated with Saethre-Chotzen Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Saethre-Chotzen Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.5IST1, FGFR2, FGFR1, FGFR3
2transcription factor complexGO:0056679.3TWIST2, MSX2, HAND2, RUNX2
3nucleusGO:0056346.9RUNX2, CASP2, FERD3L, TWIST2, TWISTNB, MSX2

Biological processes related to Saethre-Chotzen Syndrome according to GeneCards/GeneDecks:

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.5FGFR1, FGFR2
2cardiac neural crest cell migration involved in outflow tract morphogenesisGO:00325310.5HAND2, TWIST1
3ventricular zone neuroblast divisionGO:02184710.4FGFR2, FGFR1
4endochondral bone growthGO:00341610.4FGFR3, MSX2
5cranial suture morphogenesisGO:06036310.4MSX2, TWIST1
6positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.4FGFR1, FGFR3
7positive regulation of transcription regulatory region DNA bindingGO:200067910.4HAND2, TWIST1
8negative regulation of mitosisGO:04583910.4FGFR2, FGFR3
9mesenchymal cell differentiationGO:04876210.4FGFR2, FGFR1
10lens fiber cell developmentGO:07030710.4FGFR2, FGFR3
11outer ear morphogenesisGO:04247310.3FGFR1, TWIST1
12positive regulation of phospholipase activityGO:01051810.3FGFR3, FGFR1, FGFR2
13lung-associated mesenchyme developmentGO:06048410.2FGFR1, FGFR2
14negative regulation of osteoblast differentiationGO:04566810.2TWIST1, TWIST2, HAND2
15regulation of fibroblast growth factor receptor signaling pathwayGO:04003610.2RUNX2, FGFR2
16peptidyl-tyrosine phosphorylationGO:01810810.2FGFR3, FGFR1, FGFR2
17positive regulation of MAPK cascadeGO:04341010.2FGFR3, FGFR1, FGFR2
18branching involved in salivary gland morphogenesisGO:06044510.2FGFR2, FGFR1
19embryonic forelimb morphogenesisGO:03511510.2RUNX2, MSX2, TWIST1
20outflow tract septum morphogenesisGO:00314810.1FGFR2, MSX2
21chondrocyte developmentGO:00206310.1MSX2, RUNX2
22osteoblast developmentGO:00207610.1BGLAP, RUNX2, MSX2
23embryonic cranial skeleton morphogenesisGO:04870110.0RUNX2, FGFR2, TWIST2, TWIST1
24bone morphogenesisGO:06034910.0FGFR2, FGFR3
25in utero embryonic developmentGO:00170110.0HAND2, FGFR2, FGFR1, TWIST1
26regulation of bone mineralizationGO:03050010.0TWIST1, BGLAP
27fibroblast growth factor receptor signaling pathwayGO:00854310.0FGFR3, FGFR1, FGFR2, CBL
28epidermal growth factor receptor signaling pathwayGO:0071739.9CBL, FGFR2, FGFR1, FGFR3
29positive regulation of cardiac muscle cell proliferationGO:0600459.8FGFR2, FGFR1
30skeletal system developmentGO:0015019.7FGFR3, FGFR1, BGLAP
31osteoblast differentiationGO:0016499.7TWIST1, TWIST2, MSX2, RUNX2, BGLAP
32negative regulation of transcription from RNA polymerase II promoterGO:0001229.6FGFR2, FGFR1, FGFR3, MSX2, TWIST2, TWIST1
33negative regulation of apoptotic processGO:0430669.6CBL, FGFR1, FGFR3, MSX2, TWIST2
34neurotrophin TRK receptor signaling pathwayGO:0480119.4CASP2, MAPKAPK3, FGFR2, FGFR1, FGFR3

Molecular functions related to Saethre-Chotzen Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00500710.0FGFR3, FGFR1, FGFR2
2fibroblast growth factor bindingGO:0171349.9FGFR2, FGFR1, FGFR3
3protein tyrosine kinase activityGO:0047139.8FGFR2, FGFR1, FGFR3
4protein homodimerization activityGO:0428039.0HAND2, PRPS1L1, FGFR2, FGFR1, TWIST1
5protein domain specific bindingGO:0199048.9TWIST1, RUNX2, CASP2, IST1, ACSL3, TWIST2
6ATP bindingGO:0055247.9RUNX2, PRPS1L1, MAPKAPK3, RECQL4, FGFR2, FGFR1
7protein bindingGO:0055157.3CASP2, IST1, HAND2, MAPKAPK3, CBL, FGFR2

Products for genes affiliated with Saethre-Chotzen Syndrome

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  • Proteins
  • Lysates
  • Antibodies

Sources for Saethre-Chotzen Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet