SCS
MCID: STH001
MIFTS: 76

Saethre-Chotzen Syndrome (SCS) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases, Cancer diseases categories
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Summaries for Saethre-Chotzen Syndrome

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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 based summary: Saethre-Chotzen Syndrome, also known as acs3, is related to jackson-weiss syndrome and craniosynostosis, 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 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: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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Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Saethre-Chotzen Syndrome, Aliases & Descriptions:

Name: Saethre-Chotzen Syndrome 8 19 42 20 22 21 46 44 48 62
Acs3 42 21 48
Scs 42 21 48
Acrocephaly, Skull Asymmetry, and Mild Syndactyly 42 21
Dysostosis Craniofacialis with Hypertelorism 21 62
Acrocephalosyndactyly Type Iii 19 62
Acrocephalosyndactyly Type 3 48 62
 
Acrocephalosyndactyly Iii 21 62
Chotzen Syndrome 42 21
Acrocephalosyndactyly, Type Iii 21
Acrocephalo-Syndactyly, Type 3 42
Acs Iii 21
Acs 3 42


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


External Ids:

Disease Ontology8 DOID:14768
NCIt39 C75034
OMIM46 101400
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0175699

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/GeneDecks gene sharing:

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1jackson-weiss syndrome30.8FGFR3, FGFR1, FGFR2
2craniosynostosis30.8FGFR3, RUNX2, FGFR1, TWIST1, FGFR2, MSX2
3crouzon syndrome30.6FGFR2, FGFR3, FGFR1, MSX2
4synostosis30.4TWIST1, MSX2, FGFR2, FGFR1, FGFR3
5colorectal cancer29.8FGFR3, FGFR2, CASP2, FGFR1
6melanoma29.6FGFR3, FGFR1, FGFR2, CASP2
7breast cancer29.6FGFR1, FGFR3, MSX2, CBL, FGFR2, TWIST1
8roberts syndrome10.6
9phocomelia10.6
10sc phocomelia syndrome10.6
11scrapie10.6
12saethre-chotzen syndrome with eyelid anomalies10.6
13beare-stevenson cutis gyrata syndrome10.5FGFR2
14hypertension10.5
15pfeiffer syndrome10.5
16cervicitis10.5
17intracranial hypertension10.5
18craniosynostosis, syndromic10.5
19saethre-chotzen syndrome, fgfr2-related10.5
20antley-bixler syndrome10.5FGFR2
21osteoglophonic dysplasia10.5FGFR1
22osteochondroma10.5FGFR3
23thanatophoric dysplasia10.4FGFR3, FGFR2
24pleuropneumonia10.4
25ladd syndrome10.4FGFR2, FGFR3
26strabismus10.4FGFR2, FGFR3
27acanthosis nigricans10.3FGFR3, FGFR2
28renal cell carcinoma10.3
29polydactyly10.3
30fanconi syndrome10.3
31congenital adrenal hyperplasia10.3
32sensorineural hearing loss10.3
33auralcephalosyndactyly10.3
34hyper ige syndrome10.3
35robinow sorauf syndrome10.3
36infectious mononucleosis10.3FGFR2, FGFR1
37sickle cell anemia10.3
38prion disease10.3
39giant cell tumor10.3BGLAP, FGFR3
40osteogenesis imperfecta10.3FGFR3, BGLAP
41splenic sequestration10.3
42hemoglobinopathy10.3
43achondroplasia10.2FGFR2, FGFR3, MSX2
44syndactyly10.2MSX2, FGFR3, FGFR2
45progressive osseous heteroplasia10.2RUNX2, BGLAP
46brachydactyly10.2FGFR3, RUNX2
47fgfr-related craniosynostosis syndromes10.2FGFR1, FGFR2, FGFR3
48acrocephalosyndactylia10.2FGFR3, FGFR2, FGFR1
49hypochondroplasia10.2FGFR1, FGFR2, FGFR3
50cleft palate10.2FGFR1, TWIST1, FGFR2

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

Symptoms:

48 (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

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 abnormality of the helix typical (50%) HP:0011039
14 cryptorchidism occasional (7.5%) HP:0000028
15 cleft palate occasional (7.5%) HP:0000175
16 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
17 conductive hearing impairment occasional (7.5%) HP:0000405
18 sensorineural hearing impairment occasional (7.5%) HP:0000407
19 visual impairment occasional (7.5%) HP:0000505
20 optic atrophy occasional (7.5%) HP:0000648
21 seizures occasional (7.5%) HP:0001250
22 hallux valgus occasional (7.5%) HP:0001822
23 migraine occasional (7.5%) HP:0002076
24 apnea occasional (7.5%) HP:0002104
25 increased intracranial pressure occasional (7.5%) HP:0002516
26 malformation of the heart and great vessels occasional (7.5%) HP:0002564
27 scoliosis occasional (7.5%) HP:0002650
28 radioulnar synostosis occasional (7.5%) HP:0002974
29 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
30 short stature occasional (7.5%) HP:0004322
31 cognitive impairment occasional (7.5%) HP:0100543
32 autosomal dominant inheritance HP:0000006
33 cleft palate HP:0000175
34 narrow palate HP:0000189
35 brachycephaly HP:0000248
36 oxycephaly HP:0000263
37 delayed cranial suture closure HP:0000270
38 malar flattening HP:0000272
39 low anterior hairline HP:0000294
40 hypertelorism HP:0000316
41 facial asymmetry HP:0000324
42 hypoplasia of the maxilla HP:0000327
43 high forehead HP:0000348
44 hearing impairment HP:0000365
45 low-set ears HP:0000369
46 convex nasal ridge HP:0000444
47 narrow nose HP:0000460
48 strabismus HP:0000486
49 ptosis HP:0000508
50 buphthalmos HP:0000557
51 shallow orbits HP:0000586
52 abnormality of the nasolacrimal system HP:0000614
53 brachydactyly syndrome HP:0001156
54 plagiocephaly HP:0001357
55 toe syndactyly HP:0001770
56 hallux valgus HP:0001822
57 intellectual disability, moderate HP:0002342
58 malformation of the heart and great vessels HP:0002564
59 abnormality of pelvic girdle bone morphology HP:0002644
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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Drug clinical trials:

Search ClinicalTrials for Saethre-Chotzen Syndrome

Search 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 Syndrome20 22 TWIST1

Anatomical Context for Saethre-Chotzen Syndrome

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MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

32
Bone, Testes, Eye, Breast, Neutrophil

FMA organs/tissues related to Saethre-Chotzen Syndrome:

14
Skull

Animal Models for Saethre-Chotzen Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

36 (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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Articles related to Saethre-Chotzen Syndrome:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
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
2
Prenatal sonographic diagnosis of familial Saethre-Chotzen syndrome. (21357567)
2011
3
Audiologic findings in Saethre-Chotzen syndrome. (21532428)
2011
4
Saethre-Chotzen syndrome: a case report. (19860490)
2010
5
Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer. (19025794)
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
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
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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UniProtKB/Swiss-Prot genetic disease variations for Saethre-Chotzen Syndrome:

64
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:

6 (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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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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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 pathway37
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 Glioblastoma37
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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Compounds related to Saethre-Chotzen Syndrome according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1pazopanib50 1111.1FGFR3, FGFR1
2regorafenib50 1111.1FGFR1, FGFR2
3su 5402619.9FGFR3, FGFR2, FGFR1
4pd 161570619.9FGFR2, FGFR1, FGFR3
5fiin 1 hydrochloride619.9FGFR2, FGFR1, FGFR3
6su5402449.9FGFR2, FGFR1, FGFR3
7pd 17307444 6110.9FGFR3, FGFR1, FGFR2
8palifermin44 1110.9FGFR2, FGFR1, FGFR3
9ponatinib50 1110.9FGFR3, FGFR1, FGFR2
10alizarin449.6BGLAP, RUNX2
11guanine44 24 1111.6CBL, FGFR2, FGFR3
12titanium449.5BGLAP, RUNX2
13alendronate44 50 1111.5BGLAP, RUNX2
14imatinib44 50 1111.5CBL, FGFR1, FGFR3
15doxorubicin44 50 1111.4FGFR3, FGFR2, CASP2
16paclitaxel44 50 1111.4FGFR1, FGFR2, TWIST1, CASP2
17paraffin449.3FGFR3, FGFR2, CASP2, BGLAP
18phenylalanine449.3CBL, FGFR2, FGFR1, FGFR3
19phosphotyrosine449.2CBL, FGFR2, FGFR1, FGFR3
20testosterone44 61 24 1112.2FGFR1, FGFR2, CASP2, BGLAP
21lysine449.2FGFR3, FGFR1, FGFR2, CBL
22vitamin d449.1FGFR2, BGLAP, RUNX2
23sb 20358044 6110.0FGFR1, BGLAP, RUNX2
24glutamate449.0CBL, FGFR2, FGFR1, FGFR3
25ascorbic acid44 2410.0RUNX2, BGLAP, CASP2
26cysteine449.0BGLAP, CASP2, FGFR2, FGFR1, FGFR3
27histamine44 28 2411.0FGFR1, CBL, BGLAP
28ribonucleic acid448.8RUNX2, CASP2, FGFR2, FGFR1
29Adenosine triphosphate24 119.8CBL, ACSL3, FGFR2, FGFR3
30threonine448.7CBL, CASP2, FGFR2, FGFR1, FGFR3
31estrogen448.7RUNX2, BGLAP, TWIST1, FGFR2, FGFR1
32pd 98,059448.7RUNX2, FGFR2, FGFR1
33h2o2448.7BGLAP, CBL, CASP2, FGFR2, FGFR1
34vegf448.6RUNX2, BGLAP, FGFR2, FGFR1, FGFR3
35nitric oxide44 24 1110.6RUNX2, CASP2, FGFR2, FGFR1
36phosphatidylinositol448.6RUNX2, CBL, FGFR2, FGFR1
37pyrophosphate44 249.5RUNX2, CBL, ACSL3
38steroid448.5RUNX2, MSX2, CASP2, FGFR2, FGFR1
39oligonucleotide448.2RUNX2, MSX2, CASP2, FGFR2, FGFR1, FGFR3
40lipid447.9RUNX2, CBL, CASP2, FGFR2, FGFR1, FGFR3
41retinoic acid44 248.9RUNX2, BGLAP, CBL, CASP2, FGFR2, FGFR1
42tyrosine447.9RUNX2, HAND2, CBL, TWIST1, FGFR2, FGFR1
43calcium44 50 24 1110.7RUNX2, BGLAP, CBL, MSX2, FGFR2, FGFR1
44serine447.6RUNX2, BGLAP, CBL, CASP2, FGFR2, FGFR1

GO Terms for genes affiliated with Saethre-Chotzen Syndrome

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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:0056678.4RUNX2, HAND2, MSX2, TWIST2
3nucleusGO:0056346.1FGFR3, RUNX2, CBL, MSX2, CASP2, TWIST2

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, FGFR2, FGFR1
3fibroblast growth factor bindingGO:0171349.7FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:0047139.6FGFR1, FGFR3, FGFR2
5bHLH transcription factor bindingGO:0434259.5TWIST1, RUNX2
6RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:0009789.3MSX2, RUNX2
7protein homodimerization activityGO:0428039.3TWIST1, FGFR1, HAND2, FGFR2
8transcription factor bindingGO:0081349.2MSX2, HAND2, TWIST1
9ATP bindingGO:0055248.1FGFR1, FGFR3, ACSL3, FGFR2, RUNX2
10protein domain specific bindingGO:0199048.1CASP2, TWIST2, TWIST1, ACSL3, RUNX2
11protein bindingGO:0055156.3HAND2, RUNX2, CBL, MSX2, CASP2, FGFR2

Products for genes affiliated with Saethre-Chotzen Syndrome

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet