Aliases & Classifications for Acrocephalosyndactylia

About this section

Aliases & Descriptions for Acrocephalosyndactylia:

Name: Acrocephalosyndactylia 8 10
 
Apert Syndrome 8


External Ids:

Disease Ontology8 DOID:12960
ICD9CM27 755.55
NCIt39 C34348
MeSH33 D000168

Summaries for Acrocephalosyndactylia

About this section
Wikipedia:64 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 Signaling by FGFR3 mutants and Endochondral Ossification. 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:8 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
1
Show member pathways
9.8FGFR3, FGFR1
29.8FGFR1, FGFR3
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, FGFR2, FGFR1
7
Show member pathways
9.3FGFR2, FGFR3, FGFR1
8
Show member pathways
9.3FGFR3, FGFR2, FGFR1
9
Show member pathways
9.3FGFR2, FGFR3, FGFR1
10
Show member pathways
9.3FGFR3, FGFR1, FGFR2
119.3FGFR3, FGFR1, FGFR2
12
Show member pathways
Signaling Pathways in Glioblastoma36
9.3FGFR3, FGFR1, FGFR2
13
Show member pathways
9.3FGFR3, FGFR1, FGFR2
149.3FGFR2, FGFR3, FGFR1
15
Show member pathways
9.3FGFR2, FGFR3, FGFR1
16
Show member pathways
9.3FGFR3, FGFR2, FGFR1
179.3FGFR3, FGFR1, FGFR2
18
Show member pathways
9.3FGFR3, FGFR2, FGFR1
199.3FGFR2, FGFR1, FGFR3
20
Show member pathways
9.3FGFR1, FGFR3, FGFR2
21
Show member pathways
9.3FGFR2, FGFR1, FGFR3
22
Show member pathways
9.3FGFR1, FGFR3, FGFR2
239.3FGFR2, FGFR1, FGFR3
24
Show member pathways
9.3FGFR2, FGFR1, FGFR3
25
Show member pathways
9.3FGFR1, FGFR2, FGFR3
26
Show member pathways
9.3FGFR2, FGFR1, FGFR3
27
Show member pathways
MAPK signaling pathway36
9.3FGFR2, FGFR1, FGFR3
28
Show member pathways
9.3FGFR2, FGFR1, FGFR3
29
Show member pathways
9.3FGFR2, FGFR1, FGFR3
309.3FGFR1, FGFR2, FGFR3
318.7TWIST1, FGFR3, FGFR2, MSX2, FGFR1

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
1pazopanib50 1110.9FGFR3, FGFR1
2regorafenib50 1110.8FGFR2, FGFR1
3su 5402609.6FGFR3, FGFR2, FGFR1
4pd 161570609.6FGFR2, FGFR1, FGFR3
5fiin 1 hydrochloride609.6FGFR2, FGFR1, FGFR3
6su5402449.6FGFR3, FGFR1, FGFR2
7pd 17307444 6010.6FGFR2, FGFR1, FGFR3
8palifermin44 1110.6FGFR3, FGFR1, FGFR2
9ponatinib50 1110.5FGFR2, FGFR1, FGFR3
10phenylalanine449.5FGFR3, FGFR1, FGFR2
11phosphotyrosine449.3FGFR3, FGFR1, FGFR2
12lysine449.3FGFR3, FGFR1, FGFR2
13oligonucleotide449.2MSX2, FGFR2, FGFR1, FGFR3
14paclitaxel44 50 1111.1FGFR1, FGFR2, TWIST1
15tyrosine448.4SNX13, 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:000341610.3MSX2, FGFR3
3outer ear morphogenesisGO:004247310.2TWIST1, FGFR1
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:003560710.1FGFR2, FGFR1
8lens fiber cell developmentGO:007030710.1FGFR2, FGFR3
9embryonic forelimb morphogenesisGO:003511510.1MSX2, TWIST1
10ventricular zone neuroblast divisionGO:002184710.1FGFR2, FGFR1
11negative regulation of mitosisGO:004583910.1FGFR2, FGFR3
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:004870110.1FGFR2, TWIST1
16bone morphogenesisGO:006034910.1FGFR2, FGFR3
17positive regulation of cardiac muscle cell proliferationGO:006004510.1FGFR1, FGFR2
18odontogenesisGO:004247610.0TWIST1, FGFR2
19cellular response to growth factor stimulusGO:007136310.0MSX2, TWIST1
20skeletal system morphogenesisGO:004870510.0FGFR1, FGFR2
21positive regulation of cell cycleGO:004578710.0FGFR1, FGFR2
22chondrocyte differentiationGO:000206210.0FGFR3, FGFR1
23midbrain developmentGO:003090110.0FGFR2, FGFR1
24osteoblast differentiationGO:000164910.0TWIST1, MSX2
25positive regulation of mesenchymal cell proliferationGO:00020539.9FGFR1, FGFR2
26ureteric bud developmentGO:00016579.9FGFR1, FGFR2
27negative regulation of epithelial cell proliferationGO:00506809.9FGFR2, FGFR3
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:00181089.8FGFR1, FGFR3, FGFR2
32MAPK cascadeGO:00001659.8FGFR1, FGFR3
33phosphatidylinositol-mediated signalingGO:00480159.7FGFR2, FGFR1, FGFR3
34insulin receptor signaling pathwayGO:00082869.7FGFR3, FGFR1, FGFR2
35protein autophosphorylationGO:00467779.7FGFR1, FGFR2, FGFR3
36fibroblast growth factor receptor signaling pathwayGO:00085439.7FGFR2, FGFR1, FGFR3
37in utero embryonic developmentGO:00017019.7FGFR2, FGFR1, TWIST1
38Fc-epsilon receptor signaling pathwayGO:00380959.7FGFR3, FGFR2, FGFR1
39epidermal growth factor receptor signaling pathwayGO:00071739.7FGFR3, FGFR1, FGFR2
40inner ear morphogenesisGO:00424729.7FGFR1, FGFR2
41positive regulation of epithelial cell proliferationGO:00506799.6FGFR2, TWIST1
42neurotrophin TRK receptor signaling pathwayGO:00480119.6FGFR2, FGFR3, FGFR1
43negative regulation of transcription from RNA polymerase II promoterGO:00001229.2FGFR3, MSX2, FGFR1, FGFR2, TWIST1
44positive regulation of cell proliferationGO:00082849.0FGFR2, FGFR1, FGFR3

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

Sources for Acrocephalosyndactylia

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet