ACS1
MCID: ACR015
MIFTS: 65

Acrocephalosyndactylia (ACS1) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases categories

Summaries for Acrocephalosyndactylia

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Apert syndromeĀ 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 mayĀ include distinctive facial features (bulging and wide-set eyes; a beaked nose; an underdeveloped upper jaw leading to crowded teeth and other dental problems;Ā 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 byĀ mutations in the fgfr2 gene and is inherited in anĀ 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 FGF signaling pathway and Endochondral Ossification. The compounds pazopanib and regorafenib 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:9 A synostosis that results in craniosynostosis and syndactyly.

Genetics Home Reference:22 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:66 Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and... more...

Description from OMIM:48 101200

Aliases & Classifications for Acrocephalosyndactylia

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9Disease Ontology, 10diseasecard, 66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 28ICD9CM, 41NCIt, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
apert syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

acrocephalosyndactylia 9 11
apert syndrome 9 10 66 44 21 22 48 46 50
acrocephalo-syndactyly type 1 44 23
acrocephalosyndactyly 66 22
acrocephaly 66 63
acrocephalosyndactyly type 1 50
syndactylic oxycephaly 44
apert-crouzon disease 44
vogt cephalodactyly 63
acs ii 63
acs 1 44
acs1 50


External Ids:

Disease Ontology9 DOID:12960
ICD9CM28 755.55
OMIM48 101200
NCIt41 C34348
MeSH36 D000168
MESH via Orphanet37 D000168
ICD10 via Orphanet27 Q87.0
SNOMED-CT via Orphanet60 205258009
UMLS via Orphanet64 C0001193

Related Diseases for Acrocephalosyndactylia

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18GeneCards, 19GeneDecks
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Diseases related to Acrocephalosyndactylia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1syndactyly30.5FGFR3, FGFR2, MSX2
2crouzon syndrome30.3FGFR1, FGFR3, MSX2, FGFR2
3synostosis30.1FGFR1, MSX2, TWIST1, FGFR2, FGFR3
4strabismus30.1FGFR3, FGFR2
5infectious mononucleosis30.1FGFR1, FGFR2
6beare-stevenson cutis gyrata syndrome30.0FGFR2
7craniosynostosis30.0FGFR3, FGFR2, ARID1B, TWIST1, MSX2, FGFR1
8cleft palate30.0FGFR2, FGFR1, TWIST1
9fgfr-related craniosynostosis syndromes29.9FGFR2, FGFR1, FGFR3
10jackson-weiss syndrome29.9FGFR3, FGFR1, FGFR2
11saethre-chotzen syndrome29.9FGFR1, MSX2, TWIST1, FGFR2, FGFR3
12polydactyly10.2
13polyhydramnios10.2
14maroteaux fonfria syndrome10.2
15carpenter syndrome10.1
16summitt syndrome10.1
17craniosynostosis, type 110.1
18osteochondroma10.1FGFR3
19antley-bixler syndrome10.1FGFR2
20osteoglophonic dysplasia10.1FGFR1
21greig cephalopolysyndactyly syndrome10.0
22choanal atresia10.0
23papillary carcinoma10.0
24congenital diaphragmatic hernia10.0
25acne10.0
26encephalocele10.0
27humeroradial synostosis10.0
28pierre robin sequence10.0
29septo-optic dysplasia10.0
30encephaloceles10.0
31dysgerminoma10.0
32omphalocele10.0
33brachydactyly10.0HEMK1, FGFR3
34ladd syndrome10.0FGFR2, FGFR3
35thanatophoric dysplasia10.0FGFR3, FGFR2
36acanthosis nigricans10.0FGFR3, FGFR2
37achondroplasia10.0MSX2, FGFR2, FGFR3
38dextrocardia10.0
39imperforate anus10.0
40hydrocephalus10.0
41chylous ascites10.0
42renal tubular dysgenesis10.0
43robinow sorauf syndrome10.0
44mental retardation10.0
45coronary artery disease10.0
46artery disease10.0
47sarcoidosis10.0
48cutis laxa10.0
49baller-gerold syndrome10.0
50crouzonodermoskeletal syndrome10.0

Graphical network of the top 20 diseases related to Acrocephalosyndactylia:



Diseases related to acrocephalosyndactylia

Symptoms for Acrocephalosyndactylia

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

101200

Clinical features from OMIM:

101200

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Acrocephalosyndactylia:

id Genetic test Affiliating Genes
1 Apert Syndrome21 FGFR2
2 Acrocephalosyndactyly Type I23

Anatomical Context for Acrocephalosyndactylia

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34MalaCards
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MalaCards organs/tissues related to Acrocephalosyndactylia:

34
Bone, Eye, Ovary, Lung

Animal Models for Acrocephalosyndactylia or affiliated genes

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38MGI
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Publications for Acrocephalosyndactylia

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53PubMed
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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

Variations for Acrocephalosyndactylia

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Acrocephalosyndactylia:

65
id Symbol AA change Variation ID SNP ID
1FGFR2p.Ser252PheVAR_004114
2FGFR2p.Ser252TrpVAR_004115
3FGFR2p.Pro253ArgVAR_004117

Clinvar genetic disease variations for Acrocephalosyndactylia:

1
id Gene Name Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.755C> G (p.Ser252Trp)single nucleotide variantPathogenicrs79184941GRCh37Chr 10, 123279677: 123279677
2FGFR2NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg)single nucleotide variantPathogenicrs77543610GRCh37Chr 10, 123279674: 123279674
3FGFR2NM_000141.4(FGFR2): c.755_756delCGinsTT (p.Ser252Phe)indelPathogenicrs121918498GRCh37Chr 10, 123279676: 123279677
4FGFR2FGFR2, ALU INSinsertionPathogenic
5FGFR2NM_000141.4(FGFR2): c.756_758delGCCinsCTT (p.Pro253Phe)indelPathogenicrs387907372GRCh37Chr 10, 123279674: 123279676

Expression for genes affiliated with Acrocephalosyndactylia

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2BioGPS, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 31KEGG, 62Tocris Bioscience, 5Cell Signaling Technology, 52PharmGKB, 58SinoBiological, 61Thomson Reuters, 55R&D Systems
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Pathways related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

(show all 31)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8FGFR1, FGFR2
29.7FGFR1, FGFR3
3
Show member pathways
9.7FGFR3, FGFR1
4
Show member pathways
9.4FGFR1, FGFR2, FGFR3
5
Show member pathways
9.4FGFR2, FGFR1, FGFR3
69.4FGFR2, FGFR1, FGFR3
7
Show member pathways
9.4FGFR2, FGFR1, FGFR3
8
Show member pathways
9.4FGFR2, FGFR1, FGFR3
9
Show member pathways
MAPK signaling pathway39
9.4FGFR2, FGFR1, FGFR3
10
Show member pathways
9.4FGFR1, FGFR3, FGFR2
11
Show member pathways
9.4FGFR2, FGFR1, FGFR3
129.4FGFR1, FGFR2, FGFR3
139.4FGFR2, FGFR1, FGFR3
14
Show member pathways
9.4FGFR1, FGFR3, FGFR2
15
Show member pathways
9.4FGFR2, FGFR1, FGFR3
16
Show member pathways
9.4FGFR3, FGFR1, FGFR2
17
Show member pathways
9.4FGFR3, FGFR1, FGFR2
18
Show member pathways
9.4FGFR2, FGFR3, FGFR1
199.4FGFR3, FGFR1, FGFR2
20
Show member pathways
9.4FGFR3, FGFR2, FGFR1
21
Show member pathways
9.4FGFR3, FGFR1, FGFR2
22
Show member pathways
9.4FGFR3, FGFR1, FGFR2
23
Show member pathways
9.4FGFR2, FGFR3, FGFR1
24
Show member pathways
9.4FGFR3, FGFR2, FGFR1
259.4FGFR3, FGFR1, FGFR2
269.4FGFR2, FGFR3, FGFR1
27
Show member pathways
9.4FGFR3, FGFR2, FGFR1
28
Show member pathways
9.4FGFR3, FGFR2, FGFR1
29
Show member pathways
Signaling Pathways in Glioblastoma39
9.4FGFR3, FGFR1, FGFR2
30
Show member pathways
9.4FGFR2, FGFR3, FGFR1
318.7TWIST1, FGFR3, FGFR2, MSX2, FGFR1

Compounds for genes affiliated with Acrocephalosyndactylia

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52PharmGKB, 12DrugBank, 62Tocris Bioscience, 46Novoseek
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Compounds related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1pazopanib52 1210.9FGFR3, FGFR1
2regorafenib52 1210.8FGFR2, FGFR1
3su 5402629.7FGFR3, FGFR2, FGFR1
4pd 161570629.7FGFR2, FGFR1, FGFR3
5fiin 1 hydrochloride629.7FGFR2, FGFR1, FGFR3
6su5402469.6FGFR3, FGFR1, FGFR2
7pd 17307446 6210.6FGFR2, FGFR1, FGFR3
8palifermin46 1210.6FGFR3, FGFR1, FGFR2
9ponatinib52 1210.6FGFR2, FGFR1, FGFR3
10phenylalanine469.5FGFR3, FGFR1, FGFR2
11phosphotyrosine469.4FGFR3, FGFR1, FGFR2
12lysine469.4FGFR3, FGFR1, FGFR2
13oligonucleotide469.2MSX2, FGFR2, FGFR1, FGFR3
14paclitaxel46 52 1211.1FGFR1, FGFR2, TWIST1
15tyrosine468.4SNX13, TWIST1, FGFR2, FGFR1, FGFR3

GO Terms for genes affiliated with Acrocephalosyndactylia

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17Gene Ontology
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Cellular components related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.4FGFR3, FGFR1, FGFR2
2nucleusGO:0056346.6FGFR3, FERD3L, MSX2, TWISTNB, TWIST1, ARID1B

Biological processes related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1outflow tract septum morphogenesisGO:00314810.2FGFR2, MSX2
2cranial suture morphogenesisGO:06036310.2MSX2, TWIST1
3lens fiber cell developmentGO:07030710.2FGFR3, FGFR2
4negative regulation of mitosisGO:04583910.2FGFR3, FGFR2
5endochondral bone growthGO:00341610.2MSX2, FGFR3
6fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.2FGFR1, FGFR2
7ventricular zone neuroblast divisionGO:02184710.2FGFR1, FGFR2
8mesenchymal cell differentiationGO:04876210.2FGFR2, FGFR1
9lung-associated mesenchyme developmentGO:06048410.2FGFR2, FGFR1
10branching involved in salivary gland morphogenesisGO:06044510.2FGFR1, FGFR2
11embryonic cranial skeleton morphogenesisGO:04870110.2TWIST1, FGFR2
12bone morphogenesisGO:06034910.1FGFR2, FGFR3
13odontogenesisGO:04247610.1FGFR2, TWIST1
14outer ear morphogenesisGO:04247310.1FGFR1, TWIST1
15positive regulation of cardiac muscle cell proliferationGO:06004510.1FGFR2, FGFR1
16positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.1FGFR1, FGFR3
17embryonic hindlimb morphogenesisGO:03511610.1MSX2, TWIST1
18skeletal system morphogenesisGO:04870510.1FGFR2, FGFR1
19embryonic forelimb morphogenesisGO:03511510.1TWIST1, MSX2
20positive regulation of cell cycleGO:04578710.1FGFR1, FGFR2
21midbrain developmentGO:03090110.0FGFR1, FGFR2
22positive regulation of mesenchymal cell proliferationGO:00205310.0FGFR1, FGFR2
23cellular response to growth factor stimulusGO:07136310.0TWIST1, MSX2
24ureteric bud developmentGO:00165710.0FGFR2, FGFR1
25negative regulation of epithelial cell proliferationGO:05068010.0FGFR3, FGFR2
26osteoblast differentiationGO:0016499.9MSX2, TWIST1
27chondrocyte differentiationGO:0020629.9FGFR3, FGFR1
28positive regulation of canonical Wnt signaling pathwayGO:0902639.9FGFR3, FGFR2
29positive regulation of epithelial cell proliferationGO:0506799.8TWIST1, FGFR2
30positive regulation of phospholipase activityGO:0105189.8FGFR3, FGFR1, FGFR2
31positive regulation of MAPK cascadeGO:0434109.8FGFR2, FGFR1, FGFR3
32peptidyl-tyrosine phosphorylationGO:0181089.8FGFR3, FGFR1, FGFR2
33phosphatidylinositol-mediated signalingGO:0480159.8FGFR2, FGFR1, FGFR3
34insulin receptor signaling pathwayGO:0082869.8FGFR3, FGFR1, FGFR2
35protein autophosphorylationGO:0467779.8FGFR2, FGFR1, FGFR3
36fibroblast growth factor receptor signaling pathwayGO:0085439.8FGFR3, FGFR1, FGFR2
37in utero embryonic developmentGO:0017019.8FGFR1, FGFR2, TWIST1
38Fc-epsilon receptor signaling pathwayGO:0380959.7FGFR3, FGFR1, FGFR2
39epidermal growth factor receptor signaling pathwayGO:0071739.7FGFR3, FGFR1, FGFR2
40MAPK cascadeGO:0001659.7FGFR3, FGFR1
41inner ear morphogenesisGO:0424729.7FGFR2, FGFR1
42neurotrophin TRK receptor signaling pathwayGO:0480119.6FGFR2, FGFR1, FGFR3
43negative regulation of transcription from RNA polymerase II promoterGO:0001229.2MSX2, TWIST1, FGFR2, FGFR1, FGFR3
44positive regulation of cell proliferationGO:0082849.1FGFR3, FGFR1, FGFR2

Molecular functions related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:0047139.4FGFR3, FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050079.3FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171349.1FGFR3, FGFR1, FGFR2

Products for genes affiliated with Acrocephalosyndactylia

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Sources for Acrocephalosyndactylia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet