ACS1
MCID: ACR015
MIFTS: 57

Acrocephalosyndactylia (ACS1) malady

Eye, Bone, Fetal categories

Summaries for Acrocephalosyndactylia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Apert syndrome is a disorder mainly characterized by craniosynostosis (premature fusion of skull bones, causing abnormalities in the shape of the head and face) and syndactyly (fusion or webbing or fingers and/or toes). other signs and symptoms may include distinctive facial features (bulging and wide-set eyes; a beaked nose; an underdeveloped upper jaw leading to crowded teeth and other dental problems; and shallow eye sockets which can cause vision problems); polydactyly; hearing loss; hyperhidrosis (increased sweating); and other symptoms. cognitive abilities in affected individuals range from normal to mild or moderate intellectual disability. it is caused by mutations in the fgfr2 gene and is inherited in an autosomal dominant manner. management typically includes various surgical procedures that are tailored to the affected individual's needs. last updated: 7/1/2011

MalaCards: Acrocephalosyndactylia, also known as apert syndrome, is related to syndactyly and crouzon syndrome, and has symptoms including frontal bossing/prominent forehead, hypertelorism and syndactyly of fingers/interdigital palm. An important gene associated with Acrocephalosyndactylia is FGFR2 (fibroblast growth factor receptor 2), and among its related pathways are FGFR1b ligand binding and activation and MAPK signaling pathway. The compounds SU4984 and su 5402 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.

Genetics Home Reference:21 Apert syndrome is a genetic disorder 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. In addition, a varied number of fingers and toes are fused together (syndactyly).

Wikipedia:64 Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and... more...

Description from OMIM:47 101200

Aliases & Classifications for Acrocephalosyndactylia

Sources:
8Disease Ontology, 10DISEASES, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 22GTR, 27ICD9CM, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Bone


Characteristics (Orphanet epidemiological data):

49
apert syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

acrocephalosyndactylia 8 10
apert syndrome 8 9 64 43 20 21 47 45 49
acrocephalo-syndactyly type 1 43 22
acrocephalosyndactyly 64 21
acrocephaly 64 61
acrocephalosyndactyly type 1 49
syndactylic oxycephaly 43
apert-crouzon disease 43
vogt cephalodactyly 61
acs ii 61
acs 1 43
acs1 49


External Ids:

Disease Ontology8 DOID:12960
ICD9CM27 755.55
MeSH35 D000168
NCIt40 C34348
OMIM47 101200
MESH via Orphanet36 D000168
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet58 205258009
UMLS via Orphanet62 C0001193

Related Diseases for Acrocephalosyndactylia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1syndactyly30.4FGFR2, MSX2, FGFR3
2crouzon syndrome30.4FGFR2, FGFR1, FGFR3, MSX2
3synostosis30.2TWIST1, FGFR3, FGF10, FGFR1, FGFR2, MSX2
4infectious mononucleosis30.0FGFR1, FGFR2
5cleft palate30.0TWIST1, FGFR2, FGFR1, FGF10
6saethre-chotzen syndrome30.0TWIST1, MSX2, FGFR3, FGFR1, FGFR2
7fgfr-related craniosynostosis syndromes29.9FGFR2, FGFR1, FGFR3
8jackson-weiss syndrome29.9FGFR2, FGFR1, FGFR3
9beare-stevenson cutis gyrata syndrome29.9FGFR2
10fg syndrome10.7
11n syndrome10.4
12polydactyly10.2
13polyhydramnios10.2
14maroteaux fonfria syndrome10.2
15carpenter syndrome10.1
16summitt syndrome10.1
17greig cephalopolysyndactyly syndrome10.0
18papillary carcinoma10.0
19down syndrome10.0
20congenital diaphragmatic hernia10.0
21acne10.0
22bladder carcinoma10.0
23strabismus10.0
24char syndrome10.0
25encephalocele10.0
26septo-optic dysplasia10.0
27pierre robin sequence10.0
28dysgerminoma10.0
29omphalocele10.0
30unilateral choanal atresia10.0
31isotretinoin syndrome10.0
32blake pouch cyst10.0
33short stature10.0FGFR3
34osteoglophonic dysplasia10.0FGFR1
35osteochondroma10.0FGFR3
36cleft lip10.0FGFR1, FGF10
37thyroid cancer10.0FGFR2
38antley-bixler syndrome10.0FGFR2
39cervical cancer10.0FGFR3, FGF10
40thanatophoric dysplasia10.0FGFR2, FGFR3
41aorta atresia10.0FGFR2, FGF10
42adenocarcinoma10.0FGFR2, FGFR1
43cleidocranial dysplasia10.0MSX2, RUNX2
44achondroplasia10.0MSX2, FGFR3, FGFR2
45ladd syndrome10.0FGFR3, FGF10, FGFR2
46pancreatic cancer10.0TWIST1, FGFR2, FGFR1
47brachydactyly10.0HEMK1, FGFR3, RUNX2
48acanthosis nigricans10.0FGFR2, FGFR3
49embryonal cancer10.0MSX2, FGFR1, FGFR2
50hypochondroplasia10.0FGFR2, FGFR3, FGFR1

Graphical network of the top 20 diseases related to Acrocephalosyndactylia:



Diseases related to acrocephalosyndactylia

Clinical Features for Acrocephalosyndactylia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

101200

Clinical synopsis from OMIM:

101200

Symptoms:

49 (show all 45)
  • frontal bossing/prominent forehead
  • hypertelorism
  • syndactyly of fingers/interdigital palm
  • corpus callosum/septum pellucidum total/partial agenesis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • autosomal dominant inheritance
  • high vaulted/narrow palate
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • chronic arterial hypertension
  • hydrocephaly
  • depressed nasal bridge
  • prognathism/prognathia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • sensorineural deafness/hearing loss
  • broad/bifid thumb
  • visual loss/blindness/amblyopia
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • brachycephaly/flat occiput
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • congenital cardiac anomaly/malformation/cardiopathy
  • corneal ulceration/perforation
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • strabismus/squint
  • flat face
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • dilated cerebral ventricles without hydrocephaly
  • rhizomelic micromelia
  • depressed premaxillary region/midface
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • choanal atresia
  • vertebral segmentation anomaly/hemivertebrae
  • large fontanelle/delayed fontanelle closure
  • conductive deafness/hearing loss
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • arnold-chiari anomaly
  • thumb hypoplasia/aplasia/absence
  • proptosis/exophthalmos
  • beaked nose
  • anus ectopia/anteposition/malposition
  • syndactyly of toes
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • turricephaly/oxycephaly/acrocephaly
  • cloverleaf skull
  • ovary/ovarian teratoma/germinoma

Drugs & Therapeutics for Acrocephalosyndactylia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Acrocephalosyndactylia

Drug clinical trials:

Search ClinicalTrials for Acrocephalosyndactylia

Search NIH Clinical Center for Acrocephalosyndactylia

Search CenterWatch for Acrocephalosyndactylia

Genetic Tests for Acrocephalosyndactylia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Acrocephalosyndactylia:

id Genetic test Affiliating Genes
1 Apert Syndrome20 FGFR2
2 Acrocephalosyndactyly Type I22

Anatomical Context for Acrocephalosyndactylia

Animal Models for Acrocephalosyndactylia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Acrocephalosyndactylia

Sources:
51PubMed
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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

Genetic Variations for Acrocephalosyndactylia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Acrocephalosyndactylia:

63
id Symbol AA change Variation SNP ID
1FGFR2p.Ser252PheVAR_004114
2FGFR2p.Ser252TrpVAR_004115
3FGFR2p.Pro253ArgVAR_004117

Expression for genes affiliated with Acrocephalosyndactylia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Acrocephalosyndactylia

Search GEO for disease gene expression data for Acrocephalosyndactylia.

Pathways for genes affiliated with Acrocephalosyndactylia

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 53R&D Systems, 4Cell Signaling Technology, 52QIAGEN, 60Tocris Bioscience, 50PharmGKB, 12EMD Millipore
See all sources

Pathways related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

(show all 35)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.9FGF10, FGFR2
2
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9.6FGF10, FGFR1, FGFR2
39.6FGFR2, FGFR1, FGFR3
49.6FGFR2, FGFR1, FGFR3
59.6FGFR2, FGFR1, FGFR3
6
Hide members
9.6FGFR2, FGFR1, FGFR3
79.6FGFR3, FGFR1, FGFR2
8
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9.6FGFR3, FGFR1, FGFR2
99.6FGFR3, FGFR1, FGFR2
109.5RUNX2, FGFR2, FGFR1
119.4RUNX2, FGFR1, FGFR3
12
Hide members
9.3FGFR2, FGFR1, FGF10, FGFR3
139.3FGFR2, FGFR1, FGF10, FGFR3
14
Hide members
9.3FGFR2, FGFR1, FGF10, FGFR3
15
Hide members
9.3FGFR2, FGFR1, FGF10, FGFR3
16
Hide members
9.3FGFR2, FGFR1, FGF10, FGFR3
17
Hide members
9.3FGFR1, FGF10, FGFR3, FGFR2
18
Hide members
9.3FGFR2, FGFR1, FGF10, FGFR3
19
Hide members
9.3FGFR2, FGFR1, FGF10, FGFR3
20
Hide members
9.3FGFR2, FGFR1, FGF10, FGFR3
21
Hide members
9.3FGFR2, FGFR1, FGF10, FGFR3
22
Hide members
9.3FGFR2, FGFR1, FGF10, FGFR3
23
Hide members
9.3FGFR2, FGFR1, FGF10, FGFR3
24
Hide members
9.3FGFR3, FGF10, FGFR1, FGFR2
25
Hide members
9.3FGFR3, FGF10, FGFR1, FGFR2
26
Hide members
9.3FGFR3, FGF10, FGFR1, FGFR2
27
Hide members
9.3FGFR3, FGF10, FGFR1, FGFR2
28
Hide members
9.3FGFR3, FGF10, FGFR1, FGFR2
299.3FGFR3, FGF10, FGFR1, FGFR2
30
Hide members
9.3FGFR3, FGF10, FGFR1, FGFR2
31
Development FGF-family signaling
Hide members
9.3FGFR3, FGF10, FGFR1, FGFR2
32
Hide members
9.3FGFR3, FGF10, FGFR1, FGFR2
33
Hide members
9.3FGFR3, FGF10, FGFR1, FGFR2
34
Hide members
9.3FGFR3, FGF10, FGFR1, FGFR2
359.0TWIST1, MSX2, FGFR3, FGFR1, FGFR2

Compounds for genes affiliated with Acrocephalosyndactylia

Sources:
11DrugBank, 60Tocris Bioscience, 45Novoseek, 24HMDB
See all sources

Compounds related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1SU49841110.1FGFR1, FGFR2
2su 5402609.8FGFR3, FGFR2, FGFR1
3pd 161570609.8FGFR2, FGFR1, FGFR3
4fiin 1 hydrochloride609.8FGFR2, FGFR1, FGFR3
5su5402459.8FGFR3, FGFR1, FGFR2
6pd 17307445 6010.8FGFR2, FGFR1, FGFR3
7palifermin45 1110.8FGFR3, FGFR1, FGFR2
8Ponatinib 119.8FGFR2, FGFR1, FGFR3
9bromodeoxyuridine459.6FGF10, FGFR1, FGFR2
10Regorafenib119.6FGFR1, FGFR2
11phenylalanine459.6FGFR3, FGFR1, FGFR2
12heparan sulfate45 2410.5FGFR2, FGFR1, FGF10
13oligonucleotide459.0RUNX2, FGFR2, FGFR1, FGFR3, MSX2
14vegf458.9RUNX2, FGFR2, FGFR1, FGF10, FGFR3
15tyrosine458.6SNX13, FGFR2, FGFR1, FGF10, FGFR3, TWIST1

GO Terms for genes affiliated with Acrocephalosyndactylia

Sources:
16Gene Ontology
See all sources

Cellular components related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.3FGFR3, FGFR1, FGFR2
2nucleusGO:0056347.2FERD3L, ARID1B, FGFR2, FGFR1, FGF10, MSX2

Biological processes related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idNameGO IDScoreTop Affiliating Genes
1mesenchymal cell differentiation involved in lung developmentGO:06091510.4FGFR2, FGF10
2branch elongation involved in salivary gland morphogenesisGO:06066710.4FGFR2, FGF10
3mammary gland bud formationGO:06061510.4FGFR2, FGF10
4fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:06059510.4FGFR2, FGF10
5lacrimal gland developmentGO:03280810.3FGF10, FGFR2
6cranial suture morphogenesisGO:06036310.3TWIST1, MSX2
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.3FGFR2, FGFR1
8ventricular zone neuroblast divisionGO:02184710.3FGFR1, FGFR2
9epithelial cell proliferation involved in salivary gland morphogenesisGO:06066410.3FGFR2, FGF10
10endochondral bone growthGO:00341610.3FGFR3, MSX2
11negative regulation of mitosisGO:04583910.3FGFR2, FGFR3
12lens fiber cell developmentGO:07030710.3FGFR2, FGFR3
13otic vesicle formationGO:03091610.3FGFR2, FGF10
14mesenchymal cell differentiationGO:04876210.2FGFR2, FGFR1
15outflow tract septum morphogenesisGO:00314810.2FGFR2, MSX2
16regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signalingGO:06066510.2FGFR1, FGF10
17limb bud formationGO:06017410.2FGF10, FGFR2
18lung-associated mesenchyme developmentGO:06048410.2FGFR1, FGFR2
19outer ear morphogenesisGO:04247310.2FGFR1, TWIST1
20positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.2FGFR3, FGFR1
21regulation of fibroblast growth factor receptor signaling pathwayGO:04003610.2RUNX2, FGFR2
22regulation of smoothened signaling pathwayGO:00858910.2FGF10, FGFR2
23branching involved in salivary gland morphogenesisGO:06044510.2FGFR2, FGFR1
24chondrocyte developmentGO:00206310.1MSX2, RUNX2
25bone morphogenesisGO:06034910.1FGFR2, FGFR3
26organ inductionGO:00175910.1FGF10, FGFR1
27embryonic digestive tract morphogenesisGO:04855710.1FGFR2, FGF10
28positive regulation of cardiac muscle cell proliferationGO:06004510.1FGFR2, FGFR1
29embryonic cranial skeleton morphogenesisGO:04870110.0RUNX2, FGFR2, TWIST1
30positive regulation of phospholipase activityGO:01051810.0FGFR3, FGFR1, FGFR2
31positive regulation of canonical Wnt receptor signaling pathwayGO:09026310.0FGFR2, FGF10, FGFR3
32embryonic forelimb morphogenesisGO:03511510.0RUNX2, MSX2, TWIST1
33peptidyl-tyrosine phosphorylationGO:01810810.0FGFR3, FGFR1, FGFR2
34osteoblast differentiationGO:00164910.0TWIST1, MSX2, RUNX2
35osteoblast developmentGO:0020769.9RUNX2, MSX2
36positive regulation of ERK1 and ERK2 cascadeGO:0703749.9FGFR2, FGF10, FGFR3
37negative regulation of smoothened signaling pathwayGO:0458799.8RUNX2, FGFR3
38endochondral ossificationGO:0019589.8FGFR3, RUNX2
39positive regulation of MAPK cascadeGO:0434109.7FGFR3, FGF10, FGFR1, FGFR2
40phosphatidylinositol-mediated signalingGO:0480159.7FGFR3, FGF10, FGFR1, FGFR2
41insulin receptor signaling pathwayGO:0082869.7FGFR2, FGFR1, FGF10, FGFR3
42fibroblast growth factor receptor signaling pathwayGO:0085439.7FGFR2, FGFR1, FGF10, FGFR3
43Fc-epsilon receptor signaling pathwayGO:0380959.7FGFR2, FGFR1, FGF10, FGFR3
44epidermal growth factor receptor signaling pathwayGO:0071739.7FGFR3, FGF10, FGFR1, FGFR2
45protein autophosphorylationGO:0467779.6FGFR3, FGFR1, FGFR2
46embryonic pattern specificationGO:0098809.6FGF10, FGFR2
47neurotrophin TRK receptor signaling pathwayGO:0480119.6FGFR2, FGFR1, FGF10, FGFR3
48positive regulation of cell proliferationGO:0082849.4RUNX2, FGFR2, FGFR1, FGFR3
49negative regulation of transcription from RNA polymerase II promoterGO:0001229.4FGFR2, FGFR1, FGFR3, MSX2, TWIST1
50negative regulation of apoptotic processGO:0430669.1MSX2, FGFR3, FGF10, FGFR1

Molecular functions related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:0434259.8TWIST1, RUNX2
2fibroblast growth factor-activated receptor activityGO:0050079.6FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171349.6FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:0047139.5FGFR2, FGFR1, FGFR3
5heparin bindingGO:0082019.3FGF10, FGFR1, FGFR2

Products for genes affiliated with Acrocephalosyndactylia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Acrocephalosyndactylia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet