SCS
MCID: STH001
MIFTS: 75

Saethre-Chotzen Syndrome (SCS) malady

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

Summaries for Saethre-Chotzen Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 jackson-weiss syndrome, and has symptoms including simian crease/transverse/unique palmar crease, facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy and external ear anomalies. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (twist family bHLH transcription factor 1), and among its related pathways are Signaling by FGFR3 mutants and Ras signaling pathway. The compounds pazopanib and regorafenib have been mentioned in the context of this disorder. Affiliated tissues include skull, bone and testes, and related mouse phenotypes are normal and embryogenesis.

Disease Ontology:9 An acrocephalosyndactylia that has material basis in a genetic mutation in the twist1 gene which results in premature fusion located in skull.

Description from OMIM:48 101400

GeneReviews summary for scs

Aliases & Classifications for Saethre-Chotzen Syndrome

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 41NCIt, 59SNOMED-CT, 64UMLS via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
saethre-chotzen syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

saethre-chotzen syndrome 9 20 44 21 23 22 48 46 50 63
acs3 44 22 50
scs 44 22 50
acrocephaly, skull asymmetry, and mild syndactyly 44 22
chotzen syndrome 44 22
dysostosis craniofacialis with hypertelorism 22
acrocephalosyndactyly, type iii 22
acrocephalo-syndactyly, type 3 44
acrocephalosyndactyly type iii 20
acrocephalosyndactyly type 3 50
acrocephalosyndactyly iii 22
hemoglobin sc disease 63
acs iii 22
acs 3 44


External Ids:

Disease Ontology9 DOID:14768
NCIt41 C75034
OMIM48 101400
UMLS via Orphanet64 C0175699
ICD10 via Orphanet27 Q87.0
SNOMED-CT via Orphanet60 83015004

Related Diseases for Saethre-Chotzen Syndrome

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18GeneCards, 19GeneDecks
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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 124)
idRelated DiseaseScoreTop Affiliating Genes
1craniosynostosis31.1FGFR3, RUNX2, FGFR1, TWIST1, FGFR2, MSX2
2jackson-weiss syndrome30.6FGFR3, FGFR1, FGFR2
3breast cancer30.5FGFR1, FGFR3, MSX2, CBL, FGFR2, TWIST1
4crouzon syndrome30.5FGFR2, FGFR3, FGFR1, MSX2
5synostosis30.5TWIST1, MSX2, FGFR2, FGFR1, FGFR3
6colorectal cancer29.8FGFR3, FGFR2, CASP2, FGFR1
7melanoma29.8FGFR3, FGFR1, FGFR2, CASP2
8phocomelia10.6
9roberts syndrome10.6
10sc phocomelia syndrome10.6
11scrapie10.6
12cervicitis10.5
13hypertension10.5
14intracranial hypertension10.5
15craniosynostosis, syndromic10.5
16saethre-chotzen syndrome, fgfr2-related10.5
17saethre-chotzen syndrome with eyelid anomalies10.5
18pleuropneumonia10.4
19polydactyly10.3
20congenital adrenal hyperplasia10.3
21fanconi syndrome10.3
22sensorineural hearing loss10.3
23renal cell carcinoma10.3
24auralcephalosyndactyly10.3
25hyper ige syndrome10.3
26robinow sorauf syndrome10.3
27sickle cell anemia10.3
28prion disease10.3
29splenic sequestration10.3
30hemoglobinopathy10.3
31hemoglobin ss10.3
32acute chest syndrome10.1
33beare-stevenson cutis gyrata syndrome10.1FGFR2
34antley-bixler syndrome10.1FGFR2
35osteoglophonic dysplasia10.1FGFR1
36osteochondroma10.1FGFR3
37thanatophoric dysplasia10.1FGFR3, FGFR2
38ladd syndrome10.1FGFR2, FGFR3
39strabismus10.1FGFR2, FGFR3
40acanthosis nigricans10.1FGFR3, FGFR2
41infectious mononucleosis10.1FGFR2, FGFR1
42giant cell tumor10.1BGLAP, FGFR3
43osteogenesis imperfecta10.1FGFR3, BGLAP
44angina pectoris10.1
45age related macular degeneration10.1
46neuronal ceroid-lipofuscinoses10.1
47pelizaeus-merzbacher disease10.1
48adenoma10.1
49hemangioma10.1
50hypotrichosis10.1

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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

101400

Clinical features from OMIM:

101400

Symptoms:

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

Drugs & Therapeutics for Saethre-Chotzen Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Saethre-Chotzen Syndrome:

id Genetic test Affiliating Genes
1 Saethre-Chotzen Syndrome21 23 TWIST1

Anatomical Context for Saethre-Chotzen Syndrome

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34MalaCards, 15FMA
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MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

34
Bone, Testes, Eye, Breast

FMA organs/tissues related to Saethre-Chotzen Syndrome:

15
Skull

Animal Models for Saethre-Chotzen Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

38 (show all 23)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.9HAND2, MSX2, TWIST2, FGFR2, FGFR3
2MP:00053808.5HAND2, MSX2, TWIST1, FGFR2, FGFR1
3MP:00030128.3RUNX2, HAND2, FGFR2, FGFR1, FGFR3
4MP:00053778.1HAND2, CBL, MSX2, TWIST2, FGFR2, FGFR1
5MP:00053708.0FGFR2, TWIST2, CBL, HAND2, RUNX2
6MP:00053918.0RUNX2, MSX2, TWIST2, FGFR2, FGFR1, FGFR3
7MP:00053897.9FGFR3, FGFR2, CASP2, CBL, RUNX2
8MP:00053887.9FGFR3, FGFR2, TWIST2, CBL, RUNX2
9MP:00053867.7HAND2, CBL, MSX2, TWIST2, TWIST1, FGFR2
10MP:00053817.6RUNX2, HAND2, MSX2, TWIST2, TWIST1, FGFR2
11MP:00107717.5RUNX2, CBL, MSX2, TWIST2, FGFR2, FGFR1
12MP:00036317.4RUNX2, HAND2, MSX2, CASP2, TWIST1, FGFR2
13MP:00053697.3RUNX2, HAND2, CBL, MSX2, TWIST2, TWIST1
14MP:00053797.3RUNX2, CBL, MSX2, CASP2, TWIST2, FGFR2
15MP:00053857.2RUNX2, HAND2, CBL, MSX2, TWIST2, TWIST1
16MP:00053717.0FGFR3, RUNX2, HAND2, CBL, MSX2, TWIST2
17MP:00053827.0RUNX2, HAND2, CBL, MSX2, TWIST2, TWIST1
18MP:00053907.0RUNX2, HAND2, CBL, MSX2, TWIST2, TWIST1
19MP:00053846.7RUNX2, HAND2, CBL, CASP2, TWIST2, TWIST1
20MP:00053976.6RUNX2, HAND2, CBL, MSX2, ACSL3, CASP2
21MP:00053786.4RUNX2, HAND2, CBL, MSX2, ACSL3, TWIST2
22MP:00107686.4RUNX2, HAND2, CBL, MSX2, CASP2, TWIST2
23MP:00053876.2RUNX2, HAND2, CBL, MSX2, ACSL3, CASP2

Publications for Saethre-Chotzen Syndrome

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53PubMed
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Articles related to Saethre-Chotzen Syndrome:

(show top 50)    (show all 87)
idTitleAuthorsYear
1
Prenatal sonographic diagnosis of familial Saethre-Chotzen syndrome. (21357567)
2011
2
Audiologic findings in Saethre-Chotzen syndrome. (21532428)
2011
3
Saethre-Chotzen syndrome: a case report. (19860490)
2010
4
Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer. (19025794)
2009
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
Saethre-Chotzen syndrome and anesthesia. (18950351)
2008
8
Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter. (18019370)
2007
9
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. (16251895)
2006
10
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma. (17074596)
2006
11
Down-regulation of ubiquitin ligase Cbl induced by twist haploinsufficiency in Saethre-Chotzen syndrome results in increased PI3K/Akt signaling and osteoblast proliferation. (17003487)
2006
12
Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome. (15802514)
2005
13
Saethre-Chotzen syndrome: a case report. (16503569)
2005
14
In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome. (15781003)
2005
15
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations. (15151448)
2004
16
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. (12612814)
2003
17
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. (14513358)
2003
18
A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation. (11772178)
2002
19
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. (11977182)
2002
20
Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation. (11854168)
2002
21
Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. (12221714)
2002
22
Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene. (11746028)
2001
23
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. (11248247)
2001
24
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis. (11280946)
2001
25
Dental findings in Saethre-Chotzen syndrome (acrocephalosyndactyly type III): report of case. (9617456)
1998
26
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. (9585583)
1998
27
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. (9580658)
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
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. (8723106)
1996
31
Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study. (9118134)
1996
32
Possible genetic heterogeneity in the Saethre-Chotzen syndrome. (8698349)
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
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
37
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. (8128964)
1994
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Saethre-Chotzen Syndrome:

65
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:

1 (show all 11)
id Gene Name 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, 19156636: 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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2BioGPS, 16Gene 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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Sources:
51PathCards, 56Reactome, 31KEGG, 61Thomson Reuters, 55R&D Systems, 54QIAGEN, 62Tocris Bioscience, 5Cell Signaling Technology, 39NCBI BioSystems Database, 52PharmGKB, 58SinoBiological
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Pathways related to Saethre-Chotzen Syndrome according to GeneCards/GeneDecks:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8FGFR3, FGFR1
2
Show member pathways
9.5FGFR3, FGFR1, FGFR2
3
Show member pathways
9.5FGFR3, FGFR1, FGFR2
49.5FGFR3, FGFR1, FGFR2
5
Show member pathways
9.5FGFR3, FGFR1, FGFR2
6
Show member pathways
9.5FGFR3, FGFR1, FGFR2
7
Show member pathways
9.5FGFR3, FGFR1, FGFR2
8
Show member pathways
9.5FGFR2, FGFR1, FGFR3
99.5FGFR2, FGFR1, FGFR3
10
Show member pathways
9.5FGFR2, FGFR1, FGFR3
11
Show member pathways
9.5FGFR2, FGFR1, FGFR3
12
Show member pathways
9.5FGFR2, FGFR1, FGFR3
13
Show member pathways
9.5FGFR2, FGFR1, FGFR3
149.5FGFR2, FGFR1, FGFR3
159.5FGFR2, FGFR1, FGFR3
16
Show member pathways
9.5FGFR2, FGFR1, FGFR3
17
Show member pathways
9.5FGFR2, FGFR1, FGFR3
189.3BGLAP, RUNX2
199.3BGLAP, RUNX2
209.3BGLAP, RUNX2
219.3BGLAP, RUNX2
229.3CBL, FGFR2, FGFR3
23
Show member pathways
9.2HAND2, FGFR2, FGFR1, FGFR3
249.0TWIST1, BGLAP, RUNX2
25
Show member pathways
9.0CASP2, FGFR2, FGFR1, FGFR3
26
Show member pathways
9.0FGFR3, FGFR1, FGFR2, CASP2
27
Show member pathways
MAPK signaling pathway39
9.0FGFR3, FGFR1, FGFR2, CASP2
288.9FGFR3, FGFR1, RUNX2
298.9MSX2, TWIST1, FGFR2, FGFR1, FGFR3
30
Show member pathways
8.9FGFR3, FGFR1, FGFR2, CBL
31
Show member pathways
8.9FGFR3, FGFR1, FGFR2, CBL
328.9FGFR3, FGFR1, FGFR2, CBL
338.9FGFR3, FGFR1, FGFR2, CBL
34
Show member pathways
8.9CBL, FGFR2, FGFR1, FGFR3
35
Show member pathways
Signaling Pathways in Glioblastoma39
8.9CBL, FGFR2, FGFR1, FGFR3
36
Show member pathways
8.9CBL, FGFR2, FGFR1, FGFR3
37
Show member pathways
8.9CBL, FGFR2, FGFR1, FGFR3
38
Show member pathways
8.9CBL, FGFR2, FGFR1, FGFR3
398.7FGFR1, TWIST1, TWIST2, CBL
40
Show member pathways
8.3CBL, CASP2, FGFR2, FGFR1, FGFR3
41
Show member pathways
8.3CBL, CASP2, FGFR2, FGFR1, FGFR3
42
Show member pathways
8.3CBL, CASP2, FGFR2, FGFR1, FGFR3
438.0FGFR1, FGFR2, CBL, BGLAP, RUNX2

Compounds for genes affiliated with Saethre-Chotzen Syndrome

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Sources:
52PharmGKB, 12DrugBank, 62Tocris Bioscience, 46Novoseek, 25HMDB, 30IUPHAR
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Compounds related to Saethre-Chotzen Syndrome according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1pazopanib52 1211.1FGFR3, FGFR1
2regorafenib52 1211.1FGFR1, FGFR2
3su 5402629.9FGFR3, FGFR2, FGFR1
4pd 161570629.9FGFR2, FGFR1, FGFR3
5fiin 1 hydrochloride629.9FGFR2, FGFR1, FGFR3
6su5402469.9FGFR2, FGFR1, FGFR3
7pd 17307446 6210.9FGFR3, FGFR1, FGFR2
8palifermin46 1210.9FGFR2, FGFR1, FGFR3
9ponatinib52 1210.9FGFR3, FGFR1, FGFR2
10alizarin469.6BGLAP, RUNX2
11guanine46 25 1211.6CBL, FGFR2, FGFR3
12titanium469.5BGLAP, RUNX2
13alendronate46 52 1211.5BGLAP, RUNX2
14imatinib46 52 1211.5CBL, FGFR1, FGFR3
15doxorubicin46 52 1211.4FGFR3, FGFR2, CASP2
16paclitaxel46 52 1211.4FGFR1, FGFR2, TWIST1, CASP2
17paraffin469.3FGFR3, FGFR2, CASP2, BGLAP
18phenylalanine469.3CBL, FGFR2, FGFR1, FGFR3
19phosphotyrosine469.2CBL, FGFR2, FGFR1, FGFR3
20testosterone46 62 25 1212.2FGFR1, FGFR2, CASP2, BGLAP
21lysine469.2FGFR3, FGFR1, FGFR2, CBL
22vitamin d469.1FGFR2, BGLAP, RUNX2
23sb 20358046 6210.0FGFR1, BGLAP, RUNX2
24glutamate469.0CBL, FGFR2, FGFR1, FGFR3
25ascorbic acid46 2510.0RUNX2, BGLAP, CASP2
26cysteine469.0BGLAP, CASP2, FGFR2, FGFR1, FGFR3
27histamine46 30 2511.0FGFR1, CBL, BGLAP
28ribonucleic acid468.8RUNX2, CASP2, FGFR2, FGFR1
29Adenosine triphosphate25 129.8CBL, ACSL3, FGFR2, FGFR3
30threonine468.7CBL, CASP2, FGFR2, FGFR1, FGFR3
31estrogen468.7RUNX2, BGLAP, TWIST1, FGFR2, FGFR1
32pd 98,059468.7RUNX2, FGFR2, FGFR1
33h2o2468.7BGLAP, CBL, CASP2, FGFR2, FGFR1
34vegf468.6RUNX2, BGLAP, FGFR2, FGFR1, FGFR3
35nitric oxide46 25 1210.6RUNX2, CASP2, FGFR2, FGFR1
36phosphatidylinositol468.6RUNX2, CBL, FGFR2, FGFR1
37pyrophosphate46 259.5RUNX2, CBL, ACSL3
38steroid468.5RUNX2, MSX2, CASP2, FGFR2, FGFR1
39oligonucleotide468.2RUNX2, MSX2, CASP2, FGFR2, FGFR1, FGFR3
40lipid467.9RUNX2, CBL, CASP2, FGFR2, FGFR1, FGFR3
41retinoic acid46 258.9RUNX2, BGLAP, CBL, CASP2, FGFR2, FGFR1
42tyrosine467.9RUNX2, HAND2, CBL, TWIST1, FGFR2, FGFR1
43calcium46 52 25 1210.7RUNX2, BGLAP, CBL, MSX2, FGFR2, FGFR1
44serine467.6RUNX2, BGLAP, CBL, CASP2, FGFR2, FGFR1

GO Terms for genes affiliated with Saethre-Chotzen Syndrome

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17Gene 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
2transcription factor complexGO:0056678.4TWIST2, MSX2, HAND2, RUNX2
3nucleusGO:0056346.1RUNX2, CBL, MSX2, CASP2, TWIST2, TWIST1

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

(show top 50)    (show all 60)
idNameGO IDScoreTop Affiliating Genes
1cardiac neural crest cell migration involved in outflow tract morphogenesisGO:00325310.3HAND2, TWIST1
2lens fiber cell developmentGO:07030710.3FGFR2, FGFR3
3positive regulation of transcription regulatory region DNA bindingGO:200067910.3HAND2, TWIST1
4cranial suture morphogenesisGO:06036310.3MSX2, TWIST1
5negative regulation of mitosisGO:04583910.3FGFR2, FGFR3
6endochondral bone growthGO:00341610.2MSX2, FGFR3
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.2FGFR1, FGFR2
8ventricular zone neuroblast divisionGO:02184710.2FGFR2, FGFR1
9outflow tract septum morphogenesisGO:00314810.2MSX2, FGFR2
10mesenchymal cell differentiationGO:04876210.2FGFR1, FGFR2
11outer ear morphogenesisGO:04247310.2TWIST1, FGFR1
12positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.2FGFR1, FGFR3
13lung-associated mesenchyme developmentGO:06048410.1FGFR1, FGFR2
14bone morphogenesisGO:06034910.1FGFR2, FGFR3
15branching involved in salivary gland morphogenesisGO:06044510.1FGFR2, FGFR1
16regulation of bone mineralizationGO:03050010.1TWIST1, BGLAP
17positive regulation of cardiac muscle cell proliferationGO:06004510.0FGFR1, FGFR2
18odontogenesisGO:04247610.0BGLAP, TWIST1, FGFR2
19positive regulation of phospholipase activityGO:0105189.9FGFR3, FGFR1, FGFR2
20cellular response to growth factor stimulusGO:0713639.9BGLAP, MSX2, TWIST1
21skeletal system morphogenesisGO:0487059.9FGFR1, FGFR2
22positive regulation of MAPK cascadeGO:0434109.9FGFR3, FGFR1, FGFR2
23peptidyl-tyrosine phosphorylationGO:0181089.9FGFR2, FGFR1, FGFR3
24negative regulation of osteoblast differentiationGO:0456689.9HAND2, TWIST2, TWIST1
25positive regulation of cell cycleGO:0457879.9FGFR2, FGFR1
26negative regulation of DNA bindingGO:0433929.8TWIST2, HAND2
27bone mineralizationGO:0302829.8FGFR2, BGLAP
28phosphatidylinositol-mediated signalingGO:0480159.8FGFR3, FGFR1, FGFR2
29insulin receptor signaling pathwayGO:0082869.8FGFR2, FGFR1, FGFR3
30protein autophosphorylationGO:0467779.8FGFR3, FGFR1, FGFR2
31regulation of fibroblast growth factor receptor signaling pathwayGO:0400369.7RUNX2, FGFR2
32skeletal system developmentGO:0015019.7FGFR3, FGFR1, BGLAP
33Fc-epsilon receptor signaling pathwayGO:0380959.7FGFR3, FGFR1, FGFR2
34negative regulation of tumor necrosis factor productionGO:0327209.7TWIST1, TWIST2
35angiogenesisGO:0015259.6HAND2, FGFR2, FGFR1
36chondrocyte developmentGO:0020639.6RUNX2, MSX2
37in utero embryonic developmentGO:0017019.6FGFR1, FGFR2, TWIST1, HAND2
38embryonic hindlimb morphogenesisGO:0351169.6TWIST1, MSX2
39negative regulation of smoothened signaling pathwayGO:0458799.6FGFR3, RUNX2
40embryonic forelimb morphogenesisGO:0351159.5TWIST1, MSX2, RUNX2
41osteoblast developmentGO:0020769.4MSX2, BGLAP, RUNX2
42neurotrophin TRK receptor signaling pathwayGO:0480119.4CASP2, FGFR2, FGFR1, FGFR3
43endochondral ossificationGO:0019589.4RUNX2, FGFR3
44fibroblast growth factor receptor signaling pathwayGO:0085439.3FGFR3, FGFR1, FGFR2, CBL
45epidermal growth factor receptor signaling pathwayGO:0071739.3FGFR3, FGFR1, FGFR2, CBL
46negative regulation of apoptotic processGO:0430669.1CBL, MSX2, TWIST2, TWIST1
47embryonic cranial skeleton morphogenesisGO:0487019.1RUNX2, TWIST2, TWIST1, FGFR2
48positive regulation of cell proliferationGO:0082849.0RUNX2, FGFR2, FGFR1, FGFR3
49negative regulation of transcription from RNA polymerase II promoterGO:0001228.9MSX2, TWIST2, TWIST1, FGFR2, FGFR1, FGFR3
50osteoblast differentiationGO:0016498.7TWIST1, TWIST2, MSX2, BGLAP, RUNX2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1E-box bindingGO:0708889.8TWIST1, HAND2
2fibroblast growth factor-activated receptor activityGO:0050079.7FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171349.7FGFR2, FGFR1, FGFR3
4protein tyrosine kinase activityGO:0047139.6FGFR2, FGFR1, FGFR3
5bHLH transcription factor bindingGO:0434259.5TWIST1, RUNX2
6RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:0009789.3MSX2, RUNX2
7protein homodimerization activityGO:0428039.3FGFR1, FGFR2, TWIST1, HAND2
8transcription factor bindingGO:0081349.2TWIST1, MSX2, HAND2
9ATP bindingGO:0055248.1RUNX2, ACSL3, FGFR2, FGFR1, FGFR3
10protein domain specific bindingGO:0199048.1TWIST1, TWIST2, CASP2, ACSL3, RUNX2
11protein bindingGO:0055156.3RUNX2, HAND2, CBL, MSX2, CASP2, TWIST2

Products for genes affiliated with Saethre-Chotzen Syndrome

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Sources for Saethre-Chotzen Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet