SCS
MCID: STH001
MIFTS: 75

Saethre-Chotzen Syndrome (SCS) malady

Eye diseases, Bone diseases, Fetal diseases, Cancer diseases, Blood diseases categories

Summaries for Saethre-Chotzen Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 craniosynostosis and breast cancer, and has symptoms including apnea/sleep apnea, hallux valgus and radioulnar synostosis. 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, bone and testes, 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:46 101400

GeneReviews summary for scs

Aliases & Classifications for Saethre-Chotzen Syndrome

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 61UMLS via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 42 20 22 21 46 44 48 60
acs3 42 21 48
acrocephaly, skull asymmetry, and mild syndactyly 42 21
chotzen syndrome 42 21
scs 21 48
dysostosis craniofacialis with hypertelorism 21
acrocephalosyndactyly, type iii 21
acrocephalosyndactyly type iii 19
acrocephalo-syndactyly, type 3 42
acrocephalosyndactyly type 3 48
acrocephalosyndactyly iii 21
hemoglobin sc disease 60
sc disease 44
acs iii 21
acs 3 42


External Ids:

Disease Ontology8 DOID:14768
OMIM46 101400
NCIt39 C75034
UMLS via Orphanet61 C0175699
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet57 83015004

Related Diseases for Saethre-Chotzen Syndrome

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17GeneCards, 18GeneDecks
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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/GeneDecks gene sharing:

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1craniosynostosis31.0RECQL4, RUNX2, FGFR2, FGFR1, TWIST1, MSX2
2breast cancer30.7RUNX2, CASP2, CBL, FGFR2, FGFR1, FGFR3
3saethre-chotzen syndrome with eyelid anomalies30.6IST1, TWIST1
4jackson-weiss syndrome30.6FGFR2, FGFR1, FGFR3
5muenke syndrome30.6TWIST1, FGFR3, FGFR1, FGFR2
6crouzon syndrome30.4FGFR2, FGFR1, FGFR3, MSX2
7polydactyly30.4FGFR2, HAND2
8synostosis30.4RECQL4, FGFR2, FGFR1, FGFR3, MSX2, TWIST1
9adenocarcinoma29.8FGFR1, FGFR2
10roberts syndrome10.6
11sc phocomelia syndrome10.6
12scrapie10.5
13sickle cell anemia10.5
14splenic sequestration10.5
15splenic disease10.5
16cervicitis10.4
17hypertension10.4
18intracranial hypertension10.4
19saethre-chotzen syndrome, fgfr2-related10.4
20acute chest syndrome10.4
21bovine spongiform encephalopathy10.4
22pleuropneumonia10.3
23sensorineural hearing loss10.3
24congenital adrenal hyperplasia10.3
25fanconi syndrome10.3
26down syndrome10.3
27renal cell carcinoma10.3
28prion disease10.3
29hemoglobinopathy10.2
30central retinal artery occlusion10.2
31exophthalmos10.2
32splenic infarction10.2
33hereditary spherocytosis10.2
34asthma10.2
35ischemia10.2
36retinal artery occlusion10.2
37retinal disease10.2
38retinitis10.2
39sickle cell disease10.1
40angina pectoris10.0
41age related macular degeneration10.0
42neuronal ceroid-lipofuscinoses10.0
43pelizaeus-merzbacher disease10.0
44adenoma10.0
45hemangioma10.0
46hypotrichosis10.0
47spinal cord injury10.0
48osteoglophonic dysplasia10.0FGFR1
49cleft lip10.0FGFR1
50beare-stevenson cutis gyrata syndrome10.0FGFR2

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



Diseases related to saethre-chotzen syndrome

Clinical Features for Saethre-Chotzen Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

101400

Clinical synopsis from OMIM:

101400

Symptoms:

48 (show all 38)
  • apnea/sleep apnea
  • hallux valgus
  • radioulnar synostosis
  • abnormal vertebral size/shape
  • scoliosis
  • conductive deafness/hearing loss
  • sensorineural deafness/hearing loss
  • 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
  • hearing loss/hypoacusia/deafness
  • low set ears/posteriorly rotated ears
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • ptosis
  • strabismus/squint
  • hypertelorism
  • low hair line-front
  • autosomal dominant inheritance
  • syndactyly of fingers/interdigital palm
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • craniostenosis/craniosynostosis/sutural synostosis
  • beaked nose
  • external ear anomalies
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • visual loss/blindness/amblyopia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • dystonia/torticollis/writer's cramp/blepharospasms
  • simian crease/transverse/unique palmar crease
  • short hand/brachydactyly
  • external auditory canal atresia/stenosis/agenesis
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • skull/cranial anomalies

Drugs & Therapeutics for Saethre-Chotzen Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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Genetic tests related to Saethre-Chotzen Syndrome:

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

Anatomical Context for Saethre-Chotzen Syndrome

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

32
Bone, Testes, Eye, Breast

FMA organs/tissues related to Saethre-Chotzen Syndrome:

14
Skull

Animal Models for Saethre-Chotzen Syndrome or affiliated genes

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36MGI
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Publications for Saethre-Chotzen Syndrome

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50PubMed
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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 sonographic diagnosis of familial Saethre-Chotzen syndrome. (21357567)
2011
3
Saethre-Chotzen syndrome: a case report. (19860490)
2010
4
Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. (20184424)
2010
5
The frequency of palatal anomalies in Saethre-Chotzen syndrome. (19642760)
2009
6
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. (19373776)
2009
7
The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. (19952666)
2009
8
Discussion. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. (19483582)
2009
9
Anesthesia in a child with Saethre-Chotzen syndrome. (18095973)
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
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. (16526917)
2006
14
Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome. (15802514)
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
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. (11977182)
2002
20
Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. (12221714)
2002
21
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. (11248247)
2001
22
Saethre-Chotzen syndrome: review of the literature and report of a case. (11314068)
2000
23
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. (10094188)
1999
24
Dental findings in Saethre-Chotzen syndrome (acrocephalosyndactyly type III): report of case. (9617456)
1998
25
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. (8988166)
1997
26
The cervical spine in Saethre-Chotzen syndrome. (9003917)
1997
27
Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study. (9118134)
1996
28
Possible genetic heterogeneity in the Saethre-Chotzen syndrome. (8698349)
1996
29
The hands in Saethre-Chotzen syndrome. (8897212)
1996
30
Familial Saethre-Chotzen syndrome with or without polydactyly of the toe. (7793794)
1995
31
Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. (7783164)
1995
32
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
33
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
34
Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. (8266989)
1993
35
Saethre-Chotzen Syndrome (20301368)
1993
36
The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. (1433226)
1992
37
Saethre-Chotzen syndrome associated with defective neutrophil chemotaxis. (2333756)
1990
38
Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? (2769726)
1989
39
Parietal foramina in the Saethre-Chotzen syndrome. (4078875)
1985
40
Pfeiffer syndrome or Saethre-Chotzen syndrome? (4087491)
1985
41
A family with the Saethre-Chotzen syndrome. (4073118)
1985
42
Parietal foramina in Saethre-Chotzen syndrome. (6502651)
1984
43
Dermatoglyphics in Saethre-Chotzen syndrome: a family study. (6671070)
1983
44
The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family. (7450776)
1980
45
Comparative dermatoglyphic analysis in two types of acrocephalosyndactyly: Saethre-Chotzen syndrome and Pfeiffer syndrome. (552891)
1979
46
Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations. (925822)
1977
47
Cephalic malformations in Saethre-Chotzen syndrome. Acrocephalosyndactyly type III. (981618)
1976
48
The Saethre-Chotzen syndrome. (1227525)
1975
49
Roentgencephalometric studies of the premature craniofacial synostoses: report of a family with the Saethre-Chotzen syndrome. (1227526)
1975
50
The Saethre-Chotzen syndrome. (4643612)
1972

Genetic Variations for Saethre-Chotzen Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Saethre-Chotzen Syndrome:

62
id Symbol AA change Variation ID SNP ID
1TWIST1p.Gln119ProVAR_004495
2TWIST1p.Leu131ProVAR_004496
3TWIST1p.Ile156ValVAR_015219

Expression for genes affiliated with Saethre-Chotzen Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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49PharmGKB, 53Reactome, 51QIAGEN, 52R&D Systems, 4Cell Signaling Technology, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 55SinoBiological
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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

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11DrugBank, 59Tocris Bioscience, 44Novoseek, 49PharmGKB, 24HMDB
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Compounds related to Saethre-Chotzen Syndrome according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1SU49841110.4FGFR1, FGFR2
2su 54025910.2FGFR3, FGFR2, FGFR1
3pd 1615705910.2FGFR2, FGFR1, FGFR3
4fiin 1 hydrochloride5910.2FGFR2, FGFR1, FGFR3
5su54024410.2FGFR3, FGFR1, FGFR2
6pd 17307444 5911.2FGFR2, FGFR1, FGFR3
7palifermin44 1111.2FGFR3, FGFR1, FGFR2
8Ponatinib 1110.2FGFR2, FGFR1, FGFR3
9alizarin4410.0RUNX2, BGLAP
10phenylalanine449.8CBL, FGFR2, FGFR1, FGFR3
11phosphotyrosine449.8CBL, FGFR2, FGFR1, FGFR3
12ribonucleic acid449.7RUNX2, CASP2, FGFR2, FGFR1
13steroid449.5MSX2, FGFR2, CASP2, RUNX2
14oligonucleotide449.4RUNX2, CASP2, FGFR2, FGFR1, FGFR3, MSX2
15paclitaxel44 49 1111.3CASP2, FGFR2, FGFR1, TWIST1
16h2o2449.3BGLAP, CASP2, CBL, RECQL4, FGFR2, FGFR1
17sb 20358044 5910.1BGLAP, RUNX2, MAPKAPK3, FGFR1
18retinoic acid44 249.9BGLAP, RUNX2, CASP2, CBL, FGFR2, FGFR1
19cysteine448.9BGLAP, CASP2, CBL, FGFR2, FGFR1, FGFR3
20tyrosine448.8SNX13, CBL, FGFR2, FGFR1, FGFR3, TWIST1
21Adenosine triphosphate11 249.5PRPS1L1, MAPKAPK3, CBL, FGFR2, FGFR3, ACSL3
22serine448.4BGLAP, RUNX2, CASP2, MAPKAPK3, CBL, FGFR2

GO Terms for genes affiliated with Saethre-Chotzen Syndrome

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16Gene Ontology
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Cellular components related to Saethre-Chotzen Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.5FGFR3, FGFR1, FGFR2, IST1
2transcription factor complexGO:0056679.3RUNX2, HAND2, MSX2, TWIST2
3nucleusGO:0056346.9CASP2, FERD3L, MAPKAPK3, CBL, RECQL4, FGFR2

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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Sources for Saethre-Chotzen Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet