ACS1
MCID: ACR015
MIFTS: 67

Acrocephalosyndactylia (ACS1) malady

Eye diseases, Bone diseases, Fetal diseases categories

Summaries for Acrocephalosyndactylia

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 choanal atresia, visual loss/blindness/amblyopia and optic nerve anomaly/optic atrophy/anomaly of the papilla. 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. Affiliated tissues include bone, eye and ovary, and 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:63 Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and... more...

Description from OMIM:46 101200

Aliases & Classifications for Acrocephalosyndactylia

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8Disease Ontology, 10DISEASES, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 22GTR, 27ICD9CM, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 63 42 20 21 46 44 48
acrocephalo-syndactyly type 1 42 22
acrocephalosyndactyly 63 21
acrocephaly 63 60
acrocephalosyndactyly type 1 48
syndactylic oxycephaly 42
apert-crouzon disease 42
vogt cephalodactyly 60
acs ii 60
acs 1 42
acs1 48


External Ids:

Disease Ontology8 DOID:12960
ICD9CM27 755.55
MeSH34 D000168
NCIt39 C34348
OMIM46 101200
MESH via Orphanet35 D000168
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet57 205258009
UMLS via Orphanet61 C0001193

Related Diseases for Acrocephalosyndactylia

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17GeneCards, 18GeneDecks
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Diseases related to Acrocephalosyndactylia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1syndactyly30.4FGFR2, MSX2, FGFR3
2crouzon syndrome30.4FGFR2, FGFR1, FGFR3, MSX2
3synostosis30.2TWIST1, FGFR3, FGF10, FGFR1, FGFR2, MSX2
4craniosynostosis30.2RUNX2, ARID1B, FGFR2, FGFR1, FGF10, FGFR3
5cleft palate30.0TWIST1, FGFR2, FGFR1, FGF10
6infectious mononucleosis30.0FGFR1, FGFR2
7saethre-chotzen syndrome29.9TWIST1, MSX2, FGFR3, FGFR1, FGFR2
8fgfr-related craniosynostosis syndromes29.9FGFR2, FGFR1, FGFR3
9jackson-weiss syndrome29.9FGFR2, FGFR1, FGFR3
10beare-stevenson cutis gyrata syndrome29.8FGFR2
11polydactyly10.2
12polyhydramnios10.2
13maroteaux fonfria syndrome10.2
14carpenter syndrome10.1
15summitt syndrome10.1
16papillary carcinoma10.0
17down syndrome10.0
18congenital diaphragmatic hernia10.0
19acne10.0
20bladder carcinoma10.0
21choanal atresia10.0
22strabismus10.0
23image syndrome10.0
24greig cephalopolysyndactyly syndrome10.0
25short stature10.0FGFR3
26osteoglophonic dysplasia10.0FGFR1
27osteochondroma10.0FGFR3
28cleft lip10.0FGFR1, FGF10
29thyroid cancer10.0FGFR2
30antley-bixler syndrome10.0FGFR2
31cervical cancer10.0FGFR3, FGF10
32thanatophoric dysplasia10.0FGFR2, FGFR3
33aorta atresia10.0FGFR2, FGF10
34adenocarcinoma10.0FGFR2, FGFR1
35cleidocranial dysplasia10.0MSX2, RUNX2
36achondroplasia10.0MSX2, FGFR3, FGFR2
37ladd syndrome10.0FGFR3, FGF10, FGFR2
38pancreatic cancer10.0TWIST1, FGFR2, FGFR1
39brachydactyly10.0HEMK1, FGFR3, RUNX2
40acanthosis nigricans10.0FGFR2, FGFR3
41embryonal cancer10.0MSX2, FGFR1, FGFR2
42hypochondroplasia10.0FGFR2, FGFR3, FGFR1
43developmental disabilities10.0FGFR1, FGFR3, FGFR2
44dwarfism10.0FGFR2, FGFR1, FGFR3
45muenke syndrome10.0TWIST1, FGFR3, FGFR2, FGFR1
46skeletal dysplasias10.0FGFR1, FGFR3, RUNX2, FGFR2
47chondrosarcoma10.0FGFR2, FGFR1, FGFR3, RUNX2
48dextrocardia10.0
49imperforate anus10.0
50hydrocephalus10.0

Graphical network of the top 20 diseases related to Acrocephalosyndactylia:



Diseases related to acrocephalosyndactylia

Clinical Features for Acrocephalosyndactylia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

101200

Clinical synopsis from OMIM:

101200

Symptoms:

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

Drugs & Therapeutics for Acrocephalosyndactylia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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Genetic tests related to Acrocephalosyndactylia:

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

Anatomical Context for Acrocephalosyndactylia

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32MalaCards
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MalaCards organs/tissues related to Acrocephalosyndactylia:

32
Bone, Eye, Ovary, Lung

Animal Models for Acrocephalosyndactylia or affiliated genes

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36MGI
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Publications for Acrocephalosyndactylia

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50PubMed
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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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Acrocephalosyndactylia:

62
id Symbol AA change Variation ID SNP ID
1FGFR2p.Ser252PheVAR_004114
2FGFR2p.Ser252TrpVAR_004115
3FGFR2p.Pro253ArgVAR_004117

Expression for genes affiliated with Acrocephalosyndactylia

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG, 52R&D Systems, 4Cell Signaling Technology, 51QIAGEN, 59Tocris Bioscience, 49PharmGKB, 12EMD Millipore
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Pathways related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

(show all 35)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9FGF10, FGFR2
2
Hide members
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
Hide members
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

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11DrugBank, 59Tocris Bioscience, 44Novoseek, 24HMDB
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Compounds related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1SU49841110.1FGFR1, FGFR2
2su 5402599.8FGFR3, FGFR2, FGFR1
3pd 161570599.8FGFR2, FGFR1, FGFR3
4fiin 1 hydrochloride599.8FGFR2, FGFR1, FGFR3
5su5402449.8FGFR3, FGFR1, FGFR2
6pd 17307444 5910.8FGFR2, FGFR1, FGFR3
7palifermin44 1110.8FGFR3, FGFR1, FGFR2
8Ponatinib 119.8FGFR2, FGFR1, FGFR3
9bromodeoxyuridine449.6FGF10, FGFR1, FGFR2
10Regorafenib119.6FGFR1, FGFR2
11phenylalanine449.6FGFR3, FGFR1, FGFR2
12heparan sulfate44 2410.5FGFR2, FGFR1, FGF10
13oligonucleotide449.0RUNX2, FGFR2, FGFR1, FGFR3, MSX2
14vegf448.9RUNX2, FGFR2, FGFR1, FGF10, FGFR3
15tyrosine448.6SNX13, FGFR2, FGFR1, FGF10, FGFR3, TWIST1

GO Terms for genes affiliated with Acrocephalosyndactylia

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16Gene Ontology
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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
1fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:06059510.4FGFR2, FGF10
2mammary gland bud formationGO:06061510.4FGF10, FGFR2
3mesenchymal cell differentiation involved in lung developmentGO:06091510.4FGF10, FGFR2
4branch elongation involved in salivary gland morphogenesisGO:06066710.4FGF10, FGFR2
5lacrimal gland developmentGO:03280810.3FGF10, FGFR2
6fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.3FGFR1, FGFR2
7cranial suture morphogenesisGO:06036310.3TWIST1, MSX2
8ventricular zone neuroblast divisionGO:02184710.3FGFR2, FGFR1
9epithelial cell proliferation involved in salivary gland morphogenesisGO:06066410.3FGF10, FGFR2
10endochondral bone growthGO:00341610.3FGFR3, MSX2
11negative regulation of mitosisGO:04583910.3FGFR2, FGFR3
12otic vesicle formationGO:03091610.3FGFR2, FGF10
13mesenchymal cell differentiationGO:04876210.3FGFR1, FGFR2
14outflow tract septum morphogenesisGO:00314810.2FGFR2, MSX2
15lens fiber cell developmentGO:07030710.2FGFR2, FGFR3
16limb bud formationGO:06017410.2FGFR2, FGF10
17regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signalingGO:06066510.2FGFR1, FGF10
18lung-associated mesenchyme developmentGO:06048410.2FGFR2, FGFR1
19outer ear morphogenesisGO:04247310.2TWIST1, FGFR1
20regulation of fibroblast growth factor receptor signaling pathwayGO:04003610.2RUNX2, FGFR2
21positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.2FGFR1, FGFR3
22regulation of smoothened signaling pathwayGO:00858910.2FGF10, FGFR2
23branching involved in salivary gland morphogenesisGO:06044510.1FGFR2, FGFR1
24chondrocyte developmentGO:00206310.1MSX2, RUNX2
25organ inductionGO:00175910.1FGF10, FGFR1
26embryonic digestive tract morphogenesisGO:04855710.1FGF10, FGFR2
27positive regulation of cardiac muscle cell proliferationGO:06004510.1FGFR2, FGFR1
28osteoblast developmentGO:00207610.0RUNX2, MSX2
29bone morphogenesisGO:06034910.0FGFR2, FGFR3
30embryonic cranial skeleton morphogenesisGO:04870110.0RUNX2, TWIST1, FGFR2
31positive regulation of phospholipase activityGO:01051810.0FGFR3, FGFR1, FGFR2
32positive regulation of canonical Wnt receptor signaling pathwayGO:09026310.0FGFR3, FGF10, FGFR2
33embryonic forelimb morphogenesisGO:03511510.0TWIST1, MSX2, RUNX2
34peptidyl-tyrosine phosphorylationGO:01810810.0FGFR1, FGFR3, FGFR2
35osteoblast differentiationGO:00164910.0RUNX2, MSX2, TWIST1
36positive regulation of ERK1 and ERK2 cascadeGO:0703749.9FGF10, FGFR3, FGFR2
37negative regulation of smoothened signaling pathwayGO:0458799.8RUNX2, FGFR3
38endochondral ossificationGO:0019589.8RUNX2, FGFR3
39positive regulation of MAPK cascadeGO:0434109.7FGFR1, FGF10, FGFR3, FGFR2
40phosphatidylinositol-mediated signalingGO:0480159.7FGFR2, FGFR3, FGF10, FGFR1
41insulin receptor signaling pathwayGO:0082869.7FGF10, FGFR3, FGFR1, FGFR2
42fibroblast growth factor receptor signaling pathwayGO:0085439.7FGFR3, FGFR1, FGF10, FGFR2
43Fc-epsilon receptor signaling pathwayGO:0380959.7FGF10, FGFR1, FGFR2, FGFR3
44epidermal growth factor receptor signaling pathwayGO:0071739.7FGF10, FGFR2, FGFR1, FGFR3
45protein autophosphorylationGO:0467779.6FGFR1, FGFR3, FGFR2
46embryonic pattern specificationGO:0098809.6FGFR2, FGF10
47neurotrophin TRK receptor signaling pathwayGO:0480119.6FGFR2, FGFR3, FGFR1, FGF10
48positive regulation of cell proliferationGO:0082849.4FGFR1, FGFR2, FGFR3, RUNX2
49negative regulation of transcription from RNA polymerase II promoterGO:0001229.4MSX2, FGFR3, FGFR1, FGFR2, TWIST1
50negative regulation of apoptotic processGO:0430669.1FGFR1, FGF10, FGFR3, MSX2

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

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Sources for Acrocephalosyndactylia

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet