Aliases & Classifications for Acrocephalosyndactylia

About this section

Acrocephalosyndactylia, Aliases & Descriptions:

Name: Acrocephalosyndactylia 9 11
 
Apert Syndrome 9


External Ids:

Disease Ontology9 DOID:12960
ICD9CM27 755.55
NCIt38 C34348
MeSH33 D000168

Summaries for Acrocephalosyndactylia

About this section


Wikipedia:63 Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and... more...

MalaCards based summary: Acrocephalosyndactylia, also known as apert syndrome, is related to apert syndrome and syndactyly. An important gene associated with Acrocephalosyndactylia is MSX2 (msh homeobox 2), and among its related pathways are Endochondral Ossification and Signaling by FGFR3 mutants. The compounds pazopanib and regorafenib have been mentioned in the context of this disorder. Related mouse phenotypes are hearing/vestibular/ear and muscle.

Disease Ontology:9 A synostosis that results in craniosynostosis and syndactyly.

Related Diseases for Acrocephalosyndactylia

About this section

Diseases related to Acrocephalosyndactylia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1apert syndrome31.1FGFR3, FGFR1, FGFR2
2syndactyly30.3FGFR3, FGFR2, MSX2
3strabismus30.1FGFR2, FGFR3
4pfeiffer syndrome30.0FGFR2, FGFR1
5crouzon syndrome29.9FGFR3, FGFR1, FGFR2, MSX2
6synostosis29.5MSX2, TWIST1, FGFR2, FGFR1, FGFR3
7saethre-chotzen syndrome29.2MSX2, TWIST1, FGFR2, FGFR1, FGFR3
8craniosynostosis29.1FGFR2, ARID1B, TWIST1, MSX2, FGFR1, FGFR3
9osteoglophonic dysplasia10.4FGFR1
10osteochondroma10.3FGFR3
11beare-stevenson cutis gyrata syndrome10.2FGFR2
12polydactyly10.2
13polyhydramnios10.2
14maroteaux fonfria syndrome10.2
15omphalocele10.2
16antley-bixler syndrome10.2FGFR2
17brachydactyly10.1FGFR3, HEMK1
18gastroesophageal reflux10.1
19acne10.1
20choanal atresia10.1
21papillary carcinoma10.1
22congenital diaphragmatic hernia10.1
23encephalocele10.1
24humeroradial synostosis10.1
25dysgerminoma10.1
26greig cephalopolysyndactyly syndrome10.1
27carpenter syndrome10.1
28ladd syndrome10.0FGFR3, FGFR2
29thanatophoric dysplasia, type i10.0FGFR2, FGFR3
30acanthosis nigricans9.9FGFR3, FGFR2
31prostatic hypertrophy9.9FGFR1, FGFR2
32achondroplasia9.9MSX2, FGFR2, FGFR3
33embryonal cancer9.8FGFR1, FGFR2, MSX2
34cleft palate, isolated9.8TWIST1, FGFR2, FGFR1
35jackson-weiss syndrome9.8FGFR3, FGFR1, FGFR2
36fgfr-related craniosynostosis syndromes9.8FGFR3, FGFR1, FGFR2
37hypochondroplasia9.8FGFR3, FGFR1, FGFR2
38skeletal dysplasia multi-gene panels9.8FGFR2, FGFR1, FGFR3
39dwarfism9.8FGFR3, FGFR1, FGFR2
40developmental disabilities9.7FGFR3, FGFR1, FGFR2
41chondrosarcoma9.7FGFR3, FGFR1, FGFR2
42pancreatic cancer9.7TWIST1, FGFR2, FGFR1
43stomach cancer9.6FGFR1, FGFR2, TWIST1
44bladder cancer, somatic9.6FGFR2, FGFR1, FGFR3
45muenke syndrome9.6TWIST1, FGFR2, FGFR1, FGFR3
46breast cancer9.3MSX2, TWIST1, FGFR2, FGFR1, FGFR3
47prostate cancer9.3TWIST1, FGFR2, FGFR1, FGFR3

Graphical network of the top 20 diseases related to Acrocephalosyndactylia:



Diseases related to acrocephalosyndactylia

Symptoms for Acrocephalosyndactylia

About this section

Drugs & Therapeutics for Acrocephalosyndactylia

About this section

Drug clinical trials:

Search ClinicalTrials for Acrocephalosyndactylia

Search NIH Clinical Center for Acrocephalosyndactylia

Genetic Tests for Acrocephalosyndactylia

About this section

Anatomical Context for Acrocephalosyndactylia

About this section

Animal Models for Acrocephalosyndactylia or affiliated genes

About this section

Publications for Acrocephalosyndactylia

About this section

Articles related to Acrocephalosyndactylia:

idTitleAuthorsYear
1
Acrocephalosyndactylia associated with a chromosomal translocation. 46,XX, t (2p-; Cq+). (5493837)
1970
2
Acrocephalosyndactylia: two case reports. (13594964)
1958

Variations for Acrocephalosyndactylia

About this section

Expression for genes affiliated with Acrocephalosyndactylia

About this section
Search GEO for disease gene expression data for Acrocephalosyndactylia.

Pathways for genes affiliated with Acrocephalosyndactylia

About this section

Pathways related to Acrocephalosyndactylia according to GeneCards Suite gene sharing:

(show all 31)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8FGFR3, FGFR1
2
Show member pathways
9.8FGFR3, FGFR1
39.7FGFR1, FGFR2
4
Show member pathways
9.3FGFR3, FGFR1, FGFR2
5
Show member pathways
9.3FGFR3, FGFR1, FGFR2
6
Show member pathways
9.3FGFR3, FGFR1, FGFR2
7
Show member pathways
9.3FGFR3, FGFR1, FGFR2
8
Show member pathways
9.3FGFR3, FGFR1, FGFR2
9
Show member pathways
9.3FGFR3, FGFR1, FGFR2
109.3FGFR3, FGFR1, FGFR2
11
Show member pathways
9.3FGFR3, FGFR1, FGFR2
12
Show member pathways
9.3FGFR3, FGFR1, FGFR2
13
Show member pathways
9.3FGFR3, FGFR1, FGFR2
149.3FGFR3, FGFR1, FGFR2
15
Show member pathways
9.3FGFR3, FGFR1, FGFR2
169.3FGFR3, FGFR1, FGFR2
17
Show member pathways
9.3FGFR2, FGFR1, FGFR3
18
Show member pathways
9.3FGFR2, FGFR1, FGFR3
19
Show member pathways
9.3FGFR2, FGFR1, FGFR3
209.3FGFR2, FGFR1, FGFR3
21
Show member pathways
9.3FGFR2, FGFR1, FGFR3
229.3FGFR2, FGFR1, FGFR3
23
Show member pathways
9.3FGFR2, FGFR1, FGFR3
24
Show member pathways
9.3FGFR2, FGFR1, FGFR3
259.3FGFR2, FGFR1, FGFR3
26
Show member pathways
9.3FGFR2, FGFR1, FGFR3
27
Show member pathways
9.3FGFR2, FGFR1, FGFR3
28
Show member pathways
9.3FGFR2, FGFR1, FGFR3
29
Show member pathways
Signaling Pathways in Glioblastoma36
9.3FGFR2, FGFR1, FGFR3
30
Show member pathways
MAPK signaling pathway36
9.3FGFR2, FGFR1, FGFR3
318.7FGFR3, FGFR1, FGFR2, TWIST1, MSX2

Compounds for genes affiliated with Acrocephalosyndactylia

About this section

Compounds related to Acrocephalosyndactylia according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1pazopanib49 1210.9FGFR3, FGFR1
2regorafenib49 1210.8FGFR2, FGFR1
3su 5402599.6FGFR3, FGFR2, FGFR1
4pd 161570599.6FGFR2, FGFR1, FGFR3
5fiin 1 hydrochloride599.6FGFR2, FGFR1, FGFR3
6su5402439.6FGFR3, FGFR1, FGFR2
7pd 17307443 5910.6FGFR2, FGFR1, FGFR3
8palifermin43 1210.6FGFR3, FGFR1, FGFR2
9ponatinib49 1210.5FGFR2, FGFR1, FGFR3
10phenylalanine439.5FGFR3, FGFR1, FGFR2
11phosphotyrosine439.3FGFR3, FGFR1, FGFR2
12lysine439.3FGFR3, FGFR1, FGFR2
13oligonucleotide439.2MSX2, FGFR2, FGFR1, FGFR3
14paclitaxel43 49 1211.1FGFR1, FGFR2, TWIST1
15tyrosine438.4SNX13, TWIST1, FGFR2, FGFR1, FGFR3

GO Terms for genes affiliated with Acrocephalosyndactylia

About this section

Cellular components related to Acrocephalosyndactylia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:00160239.3FGFR3, FGFR1, FGFR2
2nucleusGO:00056346.6FGFR3, FERD3L, MSX2, TWISTNB, TWIST1, ARID1B

Biological processes related to Acrocephalosyndactylia according to GeneCards Suite gene sharing:

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1cranial suture morphogenesisGO:006036310.3MSX2, TWIST1
2endochondral bone growthGO:000341610.2MSX2, FGFR3
3outer ear morphogenesisGO:004247310.2FGFR1, TWIST1
4positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.2FGFR1, FGFR3
5outflow tract septum morphogenesisGO:000314810.2FGFR2, MSX2
6embryonic hindlimb morphogenesisGO:003511610.1MSX2, TWIST1
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.1FGFR1, FGFR2
8lens fiber cell developmentGO:007030710.1FGFR3, FGFR2
9embryonic forelimb morphogenesisGO:003511510.1TWIST1, MSX2
10ventricular zone neuroblast divisionGO:002184710.1FGFR1, FGFR2
11negative regulation of mitosisGO:004583910.1FGFR3, FGFR2
12mesenchymal cell differentiationGO:004876210.1FGFR2, FGFR1
13lung-associated mesenchyme developmentGO:006048410.1FGFR2, FGFR1
14branching involved in salivary gland morphogenesisGO:006044510.1FGFR1, FGFR2
15embryonic cranial skeleton morphogenesisGO:004870110.1TWIST1, FGFR2
16bone morphogenesisGO:006034910.1FGFR2, FGFR3
17positive regulation of cardiac muscle cell proliferationGO:006004510.1FGFR2, FGFR1
18odontogenesisGO:004247610.0FGFR2, TWIST1
19cellular response to growth factor stimulusGO:007136310.0TWIST1, MSX2
20skeletal system morphogenesisGO:004870510.0FGFR2, FGFR1
21positive regulation of cell cycleGO:004578710.0FGFR1, FGFR2
22chondrocyte differentiationGO:000206210.0FGFR3, FGFR1
23midbrain developmentGO:003090110.0FGFR1, FGFR2
24osteoblast differentiationGO:000164910.0MSX2, TWIST1
25positive regulation of mesenchymal cell proliferationGO:00020539.9FGFR1, FGFR2
26ureteric bud developmentGO:00016579.9FGFR2, FGFR1
27negative regulation of epithelial cell proliferationGO:00506809.9FGFR3, FGFR2
28positive regulation of canonical Wnt signaling pathwayGO:00902639.8FGFR3, FGFR2
29positive regulation of phospholipase activityGO:00105189.8FGFR3, FGFR1, FGFR2
30positive regulation of MAPK cascadeGO:00434109.8FGFR2, FGFR1, FGFR3
31peptidyl-tyrosine phosphorylationGO:00181089.8FGFR3, FGFR1, FGFR2
32MAPK cascadeGO:00001659.8FGFR3, FGFR1
33positive regulation of epithelial cell proliferationGO:00506799.7TWIST1, FGFR2
34phosphatidylinositol-mediated signalingGO:00480159.7FGFR2, FGFR1, FGFR3
35insulin receptor signaling pathwayGO:00082869.7FGFR3, FGFR1, FGFR2
36protein autophosphorylationGO:00467779.7FGFR2, FGFR1, FGFR3
37fibroblast growth factor receptor signaling pathwayGO:00085439.7FGFR3, FGFR1, FGFR2
38in utero embryonic developmentGO:00017019.7FGFR1, FGFR2, TWIST1
39Fc-epsilon receptor signaling pathwayGO:00380959.7FGFR3, FGFR1, FGFR2
40epidermal growth factor receptor signaling pathwayGO:00071739.7FGFR3, FGFR1, FGFR2
41neurotrophin TRK receptor signaling pathwayGO:00480119.6FGFR2, FGFR1, FGFR3
42inner ear morphogenesisGO:00424729.6FGFR2, FGFR1
43negative regulation of transcription from RNA polymerase II promoterGO:00001229.2MSX2, TWIST1, FGFR2, FGFR1, FGFR3
44positive regulation of cell proliferationGO:00082849.0FGFR3, FGFR1, FGFR2

Molecular functions related to Acrocephalosyndactylia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:00047139.3FGFR3, FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:00050079.2FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:00171349.0FGFR3, FGFR1, FGFR2

Products for genes affiliated with Acrocephalosyndactylia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Acrocephalosyndactylia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet