MCID: APR006
MIFTS: 69

Apert Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Apert Syndrome

MalaCards integrated aliases for Apert Syndrome:

Name: Apert Syndrome 53 12 72 72 49 24 55 71 36 13 51
Acrocephalosyndactylia 12 41 14
Acs1 53 55 71
Acrocephalosyndactyly Type 1 55 71
Apert-Crouzon Disease 49 69
Acs I 53 71
Acrocephalosyndactyly, Type I; Acs1 53
Acrocephalosyndactyly, Type I 53
Acrocephalo-Syndactyly Type 1 49
Acrocephalosyndactyly Type I 28
Syndactylic Oxycephaly 49
Acrocephalosyndactyly 24
Acs 1 49
Aprs 71

Characteristics:

Orphanet epidemiological data:

55
apert syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Spain),1-9/100000 (United States),1-9/100000 (Canada); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
paternal age effect
de novo mutation in some cases


HPO:

31
apert syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Apert Syndrome

NIH Rare Diseases : 49 Apert syndrome is characterized by fusion of the skull bones too early during development (craniosynostosis) and webbing of fingers and toes (syndactyly). Other signs and symptoms may include distinctive facial features, some of which may lead to dental and vision problems. People with Apert syndrome may also have mild to moderate intellectual disability.  Apert syndrome is caused by a change (mutation) in the FGFR2 gene. It is inherited in an autosomal dominant manner, but many cases result from a new mutation in a person with no family history of the disorder (a de novo mutation). Treatment options depend on the symptoms in each person and may include surgery to separate the skull bones and relieve the pressure on the brain. The long-term outlook for a person with Apert syndrome can be improved with prompt diagnosis and medical attention. Last updated: 4/10/2017

MalaCards based summary : Apert Syndrome, also known as acrocephalosyndactylia, is related to chromosome 2q35 duplication syndrome and pfeiffer syndrome, and has symptoms including hypertelorism, agenesis of corpus callosum and frontal bossing. An important gene associated with Apert Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Innate Immune System and GPCR Pathway. The drugs Clopidogrel and Ticagrelor have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and heart, and related phenotypes are behavior/neurological and cardiovascular system

Disease Ontology : 12 A synostosis that results_in craniosynostosis and syndactyly.

Genetics Home Reference : 24 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).

OMIM : 53 Apert syndrome is a congenital disorder characterized primarily by craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet with a tendency to fusion of bony structures. Most cases are sporadic, but autosomal dominant inheritance has been reported (Mantilla-Capacho et al., 2005). Cohen (1973) provided a review of all the 'craniosynostosis syndromes.' (101200)

UniProtKB/Swiss-Prot : 71 Apert syndrome: A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations.

Related Diseases for Apert Syndrome

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

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 31.7 FGFR2 FGFR3 GLI3
2 pfeiffer syndrome 30.5 FGF10 FGF7 FGFR1 FGFR2 FGFR3 TWIST1
3 saethre-chotzen syndrome 30.3 FGFR1 FGFR2 FGFR3 TWIST1
4 crouzon syndrome 29.5 FGF2 FGFR1 FGFR2 FGFR3
5 diaphragmatic hernia, congenital 29.3 FGF10 FGF7 GLI3
6 craniosynostosis 28.0 FGF10 FGF2 FGF9 FGFR1 FGFR2 FGFR3
7 synostosis 27.5 FGFR1 FGFR2 FGFR3 GLI3 RAB23 TWIST1
8 maroteaux fonfria syndrome 11.1
9 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 11.0
10 acrocephalopolysyndactyly type iii 10.9
11 greig cephalopolysyndactyly syndrome 10.9
12 carpenter syndrome 1 10.9
13 acanthoma 10.3 FGF10 FGFR2
14 luteoma 10.2 FGFR2 FGFR3
15 pleuropulmonary blastoma 10.2 FGF10 FGF9 FGFR2
16 clear cell acanthoma 10.1 FGF10 FGF7 FGFR2
17 radioulnar synostosis 10.1 FGFR1 FGFR2
18 thanatophoric dysplasia, type i 10.1 FGFR2 FGFR3
19 adamantinoma of long bones 10.1 FGF2 FGFR1
20 hypertropia 10.0 FGFR2 FGFR3
21 osteoglophonic dysplasia 9.9 FGFR1 FGFR2 FGFR3
22 beare-stevenson cutis gyrata syndrome 9.9 FGFR2 FGFR3 RAB23
23 antley-bixler syndrome 9.9 FGFR1 FGFR2
24 orofacial cleft 9.9 FGF10 FGFR1 FGFR2
25 jackson-weiss syndrome 9.9 FGFR1 FGFR2 FGFR3
26 hypochondroplasia 9.9 FGFR1 FGFR2 FGFR3
27 achondroplasia 9.9 FGFR1 FGFR2 FGFR3
28 aging 9.9
29 polydactyly 9.9
30 omphalocele 9.9
31 polyhydramnios 9.9
32 lentigines 9.9 FGF7 FGFR2
33 isolated brachycephaly 9.9 FGFR3 TWIST1
34 isolated plagiocephaly 9.9 FGFR3 TWIST1
35 hypertelorism 9.8 FGFR2 TWIST1
36 lung squamous cell carcinoma 9.8 FGFR1 FGFR2 FGFR3
37 colorectal cancer 9.8
38 prostate cancer 9.8
39 tuberous sclerosis 9.8
40 arteries, anomalies of 9.8
41 hypertension, essential 9.8
42 coronary artery anomaly 9.8
43 diabetes mellitus 9.8
44 kidney disease 9.8
45 aneurysm 9.8
46 apnea, obstructive sleep 9.7
47 gastroesophageal reflux 9.7
48 cleft palate, isolated 9.7
49 humeroradial synostosis 9.7
50 kleeblattschaedel 9.7

Graphical network of the top 20 diseases related to Apert Syndrome:



Diseases related to Apert Syndrome

Symptoms & Phenotypes for Apert Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
proptosis
shallow orbits
downslanting palpebral fissures

Head And Neck Head:
megalencephaly
acrobrachycephaly
turribrachycephaly
large fontanel
late-closing fontanel

Head And Neck Ears:
chronic otitis media
hearing loss
abnormal semicircular canals

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
ventricular septal defect

Abdomen Gastroin testinal:
pyloric stenosis
esophageal atresia
ectopic anus

Genitourinary Internal Genitalia Female:
vaginal atresia

Growth Weight:
normal birth weight
normal birth length

Respiratory Airways:
anomalous tracheal cartilage

Skeletal Spine:
cervical vertebrae fusion, usually at c5 to c6

Skeletal Hands:
symmetric osseous and/or cutaneous syndactyly of hands
broad distal phalanx of thumb
polydactyly, preaxial (rare)
polydactyly, postaxial (rare)

Skin Nails Hair Skin:
moderate to severe acne

Neurologic Central Nervous System:
hydrocephalus
ventriculomegaly
absent septum pellucidum
variable mental retardation
agenesis of the corpus callosum
more
Head And Neck Mouth:
narrow palate
cleft palate
bifid uvula

Head And Neck Nose:
depressed nasal bridge
strabismus
choanal stenosis or atresia

Head And Neck Face:
flat face
midface hypoplasia
high, broad forehead
mandibular prognathism

Cardiovascular Vascular:
overriding aorta

Genitourinary Kidneys:
hydronephrosis

Growth Height:
deceleration of linear growth during childhood

Head And Neck Teeth:
malocclusion
delayed dental eruption

Skeletal Skull:
craniosynostosis (coronal)
jugular foraminal stenosis

Skeletal Limbs:
synostosis of radius and humerus
fusion of carpal bones, especially capitate and hamate

Skeletal Feet:
polydactyly, preaxial (rare)
polydactyly, postaxial (rare)
symmetric osseous and/or cutaneous syndactyly of feet
broad distal hallux

Skin Nails Hair Nails:
single nail common to digits 2 to 4


Clinical features from OMIM:

101200

Human phenotypes related to Apert Syndrome:

55 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
2 agenesis of corpus callosum 55 31 frequent (33%) Frequent (79-30%) HP:0001274
3 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
4 finger syndactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0006101
5 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
6 hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0000822
7 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
8 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
9 narrow palate 55 31 frequent (33%) Frequent (79-30%) HP:0000189
10 mandibular prognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000303
11 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
12 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
13 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
14 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
15 broad thumb 55 31 frequent (33%) Frequent (79-30%) HP:0011304
16 feeding difficulties in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0008872
17 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
18 cloverleaf skull 55 31 occasional (7.5%) Occasional (29-5%) HP:0002676
19 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
20 delayed eruption of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000684
21 micromelia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002983
22 corneal erosion 55 31 occasional (7.5%) Occasional (29-5%) HP:0200020
23 flat face 55 31 hallmark (90%) Very frequent (99-80%) HP:0012368
24 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
25 broad forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000337
26 arnold-chiari malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002308
27 hypoplasia of the maxilla 55 31 hallmark (90%) Very frequent (99-80%) HP:0000327
28 downslanted palpebral fissures 55 31 frequent (33%) Frequent (79-30%) HP:0000494
29 conductive hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000405
30 choanal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000453
31 midface retrusion 55 31 frequent (33%) Frequent (79-30%) HP:0011800
32 convex nasal ridge 55 31 frequent (33%) Frequent (79-30%) HP:0000444
33 proptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000520
34 large fontanelles 55 31 frequent (33%) Frequent (79-30%) HP:0000239
35 ovarian neoplasm 55 31 occasional (7.5%) Occasional (29-5%) HP:0100615
36 absent septum pellucidum 55 31 frequent (33%) Frequent (79-30%) HP:0001331
37 facial asymmetry 55 31 frequent (33%) Frequent (79-30%) HP:0000324
38 toe syndactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001770
39 bifid uvula 55 31 occasional (7.5%) Occasional (29-5%) HP:0000193
40 brachyturricephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000244
41 esophageal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002032
42 ectopic anus 55 31 occasional (7.5%) Occasional (29-5%) HP:0004397
43 acrobrachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0004487
44 aplasia/hypoplasia of the thumb 55 31 frequent (33%) Frequent (79-30%) HP:0009601
45 morphological abnormality of the semicircular canal 55 31 frequent (33%) Frequent (79-30%) HP:0011380
46 malar flattening 31 HP:0000272
47 megalencephaly 31 HP:0001355
48 hearing impairment 31 HP:0000365
49 chronic otitis media 31 HP:0000389
50 dental malocclusion 31 HP:0000689

MGI Mouse Phenotypes related to Apert Syndrome:

43 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.19 FGFR2 FGFR1 FGFR3 FGF10 FGF9 TWIST1
2 cardiovascular system MP:0005385 10.18 FGFR2 FGFR1 FGF9 GLI3 TWIST1 FGF2
3 growth/size/body region MP:0005378 10.18 FGFR2 FGFR1 FGFR3 FGF9 GLI3 TWIST1
4 cellular MP:0005384 10.17 FGFR2 FGFR1 FGFR3 FGF10 FGF9 TWIST1
5 homeostasis/metabolism MP:0005376 10.15 FGFR2 FGFR1 FGFR3 FGF10 FGF9 GLI3
6 embryo MP:0005380 10.14 FGFR1 FGFR2 TWIST1 RAB23 FGF10 TBX5
7 mortality/aging MP:0010768 10.13 FGFR2 FGFR1 FGFR3 FGF9 GLI3 TWIST1
8 limbs/digits/tail MP:0005371 10.11 FGFR3 FGFR2 GLI3 FGFR1 TWIST1 RAB23
9 craniofacial MP:0005382 10.1 FGFR1 FGFR3 FGFR2 FGF9 GLI3 TWIST1
10 digestive/alimentary MP:0005381 10.09 FGFR1 FGFR3 FGFR2 FGF9 GLI3 TWIST1
11 integument MP:0010771 10.08 FGFR1 FGFR3 FGFR2 FGF9 GLI3 FGF7
12 hearing/vestibular/ear MP:0005377 10.05 FGFR1 FGFR3 FGFR2 FGF2 FGF10 FGF9
13 nervous system MP:0003631 10.02 FGFR1 FGFR3 FGFR2 GLI3 TWIST1 FGF2
14 muscle MP:0005369 9.95 FGFR1 FGFR2 FGF9 TWIST1 FGF2 FGF10
15 normal MP:0002873 9.87 FGFR2 FGFR1 FGFR3 FGF9 GLI3 TBX5
16 reproductive system MP:0005389 9.76 FGFR1 FGFR3 FGFR2 FGF9 GLI3 FGF2
17 renal/urinary system MP:0005367 9.73 FGFR2 FGFR1 FGFR3 GLI3 FGF7 FGF10
18 skeleton MP:0005390 9.7 FGFR3 FGFR2 GLI3 FGFR1 TWIST1 FGF2
19 vision/eye MP:0005391 9.28 FGFR1 FGFR3 FGFR2 FGF2 RAB23 FGF10

Drugs & Therapeutics for Apert Syndrome

Drugs for Apert Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clopidogrel Approved Phase 3,Phase 2 120202-66-6, 113665-84-2 60606
2
Ticagrelor Approved Phase 3,Phase 2 274693-27-5 9871419
3
Ticlopidine Approved Phase 3,Phase 2 55142-85-3 5472
4 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2
5 Fibrinolytic Agents Phase 3,Phase 2
6 Neurotransmitter Agents Phase 3,Phase 2
7 Platelet Aggregation Inhibitors Phase 3,Phase 2
8 Purinergic P2 Receptor Antagonists Phase 3,Phase 2
9 Purinergic P2Y Receptor Antagonists Phase 3,Phase 2
10
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
11
Rivaroxaban Approved Phase 2 366789-02-8
12
Eptifibatide Approved, Investigational Phase 2 188627-80-7 123610
13
Heparin Approved, Investigational Phase 2 9005-49-6 46507594 772
14 Analgesics Phase 2
15 Analgesics, Non-Narcotic Phase 2
16 Anticoagulants Phase 2
17 Anti-Inflammatory Agents Phase 2
18 Anti-Inflammatory Agents, Non-Steroidal Phase 2
19 Antipyretics Phase 2
20 Antirheumatic Agents Phase 2
21 Antithrombin III Phase 2
22 Antithrombins Phase 2
23 Cyclooxygenase Inhibitors Phase 2
24 Factor Xa Inhibitors Phase 2
25 HIV Protease Inhibitors Phase 2
26 Peripheral Nervous System Agents Phase 2
27
protease inhibitors Phase 2
28 Serine Proteinase Inhibitors Phase 2
29 calcium heparin Phase 2
30 Calcium, Dietary Phase 2
31
Otamixaban Phase 2 193153-04-7
32 serine Nutraceutical Phase 2
33
Amlodipine Approved 88150-42-9 2162
34 Antihypertensive Agents
35 calcium channel blockers
36 Vasodilator Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Low-Dose Ticagrelor in Chinese Patients With NSTE-ACS Unknown status NCT02415803 Phase 3 low-dose ticagrelor;conventional-dose ticagrelor;Clopidogrel
2 Feasibility Assessment of ACS Catheter Withdrawn NCT01960517 Phase 2, Phase 3
3 PCI and Renal Denervation in Hypertensive Patients With Acute Coronary Syndromes Unknown status NCT02272920 Phase 2
4 A Study to Compare the Safety of Rivaroxaban Versus Acetylsalicylic Acid in Addition to Either Clopidogrel or Ticagrelor Therapy in Participants With Acute Coronary Syndrome Completed NCT02293395 Phase 2 Acetylsalicylic acid;Rivaroxaban;Clopidogrel;Ticagrelor
5 Study of Otamixaban Versus Unfractionated Heparin (UFH) and Eptifibatide in Non-ST Elevation Acute Coronary Syndrome Completed NCT00317395 Phase 2 Otamixaban (XRP0673);unfractionated heparin;eptifibatide
6 European Quality Improvement Programme for Acute Coronary Syndromes Unknown status NCT00716430
7 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
8 Azilsartan Circadian and Sleep Pressure Completed NCT01762501 Azilsartan;Amlodipine
9 Dairy Products and Metabolic Effects (Norwegian Part) Completed NCT00140816

Search NIH Clinical Center for Apert Syndrome

Cochrane evidence based reviews: acrocephalosyndactylia

Genetic Tests for Apert Syndrome

Genetic tests related to Apert Syndrome:

# Genetic test Affiliating Genes
1 Acrocephalosyndactyly Type I 28 FGFR2

Anatomical Context for Apert Syndrome

MalaCards organs/tissues related to Apert Syndrome:

38
Bone, Brain, Heart, Eye, Tonsil, Fetal Brain, Temporal Lobe

Publications for Apert Syndrome

Articles related to Apert Syndrome:

(show top 50) (show all 99)
# Title Authors Year
1
Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies. ( 29198073 )
2018
2
Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review. ( 29441430 )
2018
3
Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report. ( 28316926 )
2017
4
Apert syndrome - clinical case. ( 28523332 )
2017
5
Apert Syndrome: Report of a rare congenital malformation. ( 28811814 )
2017
6
Dental approach for Apert syndrome in children: a systematic review. ( 29053644 )
2017
7
Surgical strategy for Apert syndrome: Retrospective study of developmental quotient and three-dimensional computerized tomography. ( 28338248 )
2017
8
Prenatal diagnosis of a sporadic Apert syndrome by 3-D ultrasound and 3-D helical computerized tomography. ( 28805624 )
2017
9
Deformed Skull Morphology Is Caused by the Combined Effects of the Maldevelopment of Calvarias, Cranial Base and Brain in FGFR2-P253R Mice Mimicking Human Apert Syndrome. ( 28123344 )
2017
10
EP01.09: The role ofA 2D and 3D ultrasound in the prenatal diagnosis of Apert syndrome. ( 27646570 )
2016
11
Management of the Airway in Apert Syndrome. ( 26674912 )
2016
12
Extensive acne in Apert syndrome. ( 27428282 )
2016
13
Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome. ( 27339175 )
2016
14
Diaphragmatic hernia as an early ultrasound manifestation of Apert syndrome. ( 28098935 )
2016
15
Apert syndrome: A case report and review of the literature. ( 28058401 )
2016
16
Evaluation of the maxillofacial morphological characteristics of Apert syndrome infants. ( 27534905 )
2016
17
Apert syndrome: Surgical outcomes and perspectives. ( 27378001 )
2016
18
Central nervous system and cervical spine abnormalities in Apert syndrome. ( 26861132 )
2016
19
Apert syndrome: A consensus on the management of Apert hands. ( 28087285 )
2016
20
Apert Syndrome: Outcomes From the Australian Craniofacial Unit's Birth to Maturity Management Protocol. ( 27380568 )
2016
21
EP02.05: Prenatal diagnosis of Apert syndrome. ( 27644546 )
2016
22
A third report of Apert syndrome in association with diaphragmatic hernia. ( 25714562 )
2015
23
Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome. ( 26600631 )
2015
24
Application of C-Shaped Osteotomy and Distraction Osteogenesis for Correction of Radial Angulation Deformities of the Hand in Children With Apert Syndrome: Review of 10 Years of Experience. ( 25275478 )
2015
25
Apert syndrome: temporal lobe abnormalities on fetal brain imaging. ( 25297884 )
2015
26
Perifascial areolar tissue grafting for treating syndactyly with bone fusion in patients with Apert syndrome. ( 26365357 )
2015
27
Posterior Vault Distraction Osteogenesis Conveys Anterior Benefit in Apert Syndrome. ( 26397550 )
2015
28
Mandibular asymmetry in patients with the crouzon or apert syndrome. ( 24878346 )
2015
29
Alternative Methods for Nasotracheal Intubation and Extubation in a Patient With Apert Syndrome. ( 26398130 )
2015
30
Frontofacial Monobloc Advancement With Simultaneous Frontal Cranioplasty in Adolescents With Residual Apert Syndrome Deformations. ( 26147044 )
2015
31
Treatment timing and multidisciplinary approach in Apert syndrome. ( 26330906 )
2015
32
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. ( 25867380 )
2015
33
Atypical presentation of a newborn with Apert syndrome. ( 25433548 )
2015
34
Erratum: Anesthetic management of craniosynostosis repair in patient with Apert syndrome: Erratum. ( 26543480 )
2015
35
Inhibited Wnt signaling causes age-dependent abnormalities in the bone matrix mineralization in the Apert syndrome FGFR2(S252W/+) mice. ( 25693202 )
2015
36
Withdrawal of Continuous Positive Airway Pressure Therapy after Malar Advancement and Le Fort II Distraction in a Case of Apert Syndrome with Obstructive Sleep Apnea. ( 26473084 )
2015
37
Molding of top skull in the treatment of Apert syndrome. ( 25699533 )
2015
38
Anesthetic management of craniosynostosis repair in patient with Apert syndrome. ( 25191197 )
2014
39
Apert syndrome with omphalocele: a case report. ( 25045033 )
2014
40
Apert Syndrome. ( 26259326 )
2014
41
Assessing the corrective effects of facial bipartition distraction in Apert syndrome using geometric morphometrics. ( 24709088 )
2014
42
A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family. ( 24486773 )
2014
43
The molecular and cellular basis of Apert syndrome. ( 25343114 )
2013
44
Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome. ( 23915865 )
2013
45
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients. ( 23546041 )
2013
46
Apert syndrome in a newborn infant without craniosynostosis. ( 22627435 )
2012
47
Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome. ( 22664175 )
2012
48
Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes. ( 21538817 )
2011
49
Manifested strabismus in a case of Apert syndrome. ( 21354088 )
2011
50
Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome. ( 21706505 )
2011

Variations for Apert Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Apert Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 FGFR2 p.Ser252Phe VAR_004114 rs121918498
2 FGFR2 p.Ser252Trp VAR_004115 rs79184941
3 FGFR2 p.Pro253Arg VAR_004117 rs77543610

ClinVar genetic disease variations for Apert Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic/Likely pathogenic rs79184941 GRCh37 Chromosome 10, 123279677: 123279677
2 FGFR2 NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg) single nucleotide variant Pathogenic/Likely pathogenic rs77543610 GRCh37 Chromosome 10, 123279674: 123279674
3 FGFR2 NM_000141.4(FGFR2): c.755_756delCGinsTT (p.Ser252Phe) indel Pathogenic/Likely pathogenic rs121918498 GRCh37 Chromosome 10, 123279676: 123279677
4 FGFR2 FGFR2, ALU INS insertion Pathogenic
5 FGFR2 NM_000141.4(FGFR2): c.756_758delGCCinsCTT (p.Pro253Phe) indel Pathogenic rs387907372 GRCh37 Chromosome 10, 123279674: 123279676

Copy number variations for Apert Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 15742 10 119100000 135374737 Copy number FGFR2 Apert syndrome

Expression for Apert Syndrome

Search GEO for disease gene expression data for Apert Syndrome.

Pathways for Apert Syndrome

Pathways related to Apert Syndrome according to GeneCards Suite gene sharing:

(show all 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
2
Show member pathways
13.61 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
3
Show member pathways
13.6 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
4
Show member pathways
13.45 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
5
Show member pathways
13.43 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
6
Show member pathways
13.42 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
7
Show member pathways
13.37 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
8
Show member pathways
13.31 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
9
Show member pathways
13.28 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
10
Show member pathways
13.24 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
11
Show member pathways
13.22 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
12
Show member pathways
13.2 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
13
Show member pathways
13.07 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
14
Show member pathways
13.01 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.99 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.98 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
17
Show member pathways
12.92 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
18
Show member pathways
12.82 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
19
Show member pathways
12.74 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
20 12.72 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
21 12.69 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
22
Show member pathways
12.68 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
23
Show member pathways
12.67 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
24
Show member pathways
12.66 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
25 12.56 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
26
Show member pathways
12.49 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
27
Show member pathways
12.36 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
28
Show member pathways
12.2 FGF2 FGFR1 FGFR2 FGFR3
29 12.19 FGF2 FGFR1 TWIST1
30
Show member pathways
12.18 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
31 12.1 FGF2 FGFR1 FGFR2 FGFR3
32
Show member pathways
12.1 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
33 12.07 FGF2 FGFR1 FGFR2 FGFR3
34 12.05 FGF10 FGF2 FGF7 TBX5
35 11.93 FGF2 FGFR1 FGFR2 FGFR3 TWIST1
36 11.86 FGF2 FGFR1 FGFR2 FGFR3
37 11.84 FGF10 FGF2 TBX5
38
Show member pathways
11.81 FGF2 FGF9 FGFR1
39 11.8 FGF10 FGF2 FGFR1 FGFR3
40
Show member pathways
11.79 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
41 11.7 FGF2 FGFR1 FGFR3 GLI3
42 11.65 FGFR1 FGFR2 FGFR3
43
Show member pathways
11.6 FGF2 FGF9 FGFR3
44 11.48 FGFR1 FGFR2 FGFR3
45
Show member pathways
11.37 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
46 11.34 FGF2 FGF7 FGFR1 FGFR2 FGFR3
47 11.2 FGF2 FGFR1
48 11.12 FGF2 FGFR1
49 11.08 FGF2 FGFR2
50 11 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3

GO Terms for Apert Syndrome

Cellular components related to Apert Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.17 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2

Biological processes related to Apert Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.98 FGFR1 FGFR2 GLI3 TWIST1
2 angiogenesis GO:0001525 9.98 FGF10 FGF2 FGF9 FGFR1 FGFR2
3 MAPK cascade GO:0000165 9.98 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.97 FGF10 FGF2 FGFR2 FGFR3
5 regulation of gene expression GO:0010468 9.93 FGF10 FGFR1 GLI3
6 protein autophosphorylation GO:0046777 9.92 FGFR1 FGFR2 FGFR3
7 positive regulation of canonical Wnt signaling pathway GO:0090263 9.91 FGF10 FGF9 FGFR2
8 positive regulation of MAPK cascade GO:0043410 9.91 FGF10 FGF9 FGFR1 FGFR2 FGFR3
9 animal organ morphogenesis GO:0009887 9.9 FGF10 FGF2 FGFR2
10 wound healing GO:0042060 9.9 FGF10 FGF2 FGFR2 GLI3
11 positive regulation of epithelial cell proliferation GO:0050679 9.89 FGF10 FGF7 FGF9 FGFR2 TWIST1
12 inner ear morphogenesis GO:0042472 9.88 FGF10 FGF9 FGFR1 FGFR2
13 embryonic limb morphogenesis GO:0030326 9.88 FGF9 FGFR1 GLI3 TBX5 TWIST1
14 peptidyl-tyrosine phosphorylation GO:0018108 9.87 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
15 negative regulation of cell differentiation GO:0045596 9.86 FGF10 GLI3 TWIST1
16 positive regulation of cell division GO:0051781 9.85 FGF2 FGF7 FGF9 FGFR2
17 lung development GO:0030324 9.85 FGF10 FGF9 FGFR1 FGFR2 GLI3 TBX5
18 chondrocyte differentiation GO:0002062 9.84 FGF9 FGFR1 FGFR3
19 positive chemotaxis GO:0050918 9.83 FGF10 FGF2 FGF7
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.8 FGF9 FGFR1 FGFR2
21 positive regulation of cardiac muscle cell proliferation GO:0060045 9.8 FGF2 FGF9 FGFR1 FGFR2 TBX5
22 positive regulation of protein kinase B signaling GO:0051897 9.8 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
23 hair follicle morphogenesis GO:0031069 9.79 FGF10 FGF7 FGFR2
24 embryonic digestive tract morphogenesis GO:0048557 9.78 FGF10 FGFR2 GLI3
25 embryonic digestive tract development GO:0048566 9.77 FGF10 FGF9 GLI3
26 limb development GO:0060173 9.76 FGF10 GLI3
27 midbrain development GO:0030901 9.76 FGFR1 FGFR2
28 embryonic organ development GO:0048568 9.76 FGFR2 GLI3
29 embryonic cranial skeleton morphogenesis GO:0048701 9.76 FGFR2 TWIST1
30 bone mineralization GO:0030282 9.76 FGFR2 FGFR3
31 digestive tract development GO:0048565 9.76 FGF10 FGFR2
32 odontogenesis GO:0042476 9.76 FGFR2 TWIST1
33 branching involved in salivary gland morphogenesis GO:0060445 9.76 FGF10 FGF7 FGFR1 FGFR2
34 metanephros development GO:0001656 9.75 FGF10 GLI3
35 lung alveolus development GO:0048286 9.75 FGF10 FGFR2
36 embryonic forelimb morphogenesis GO:0035115 9.75 TBX5 TWIST1
37 bone morphogenesis GO:0060349 9.75 FGFR2 FGFR3
38 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.75 FGF2 FGFR3
39 branching morphogenesis of an epithelial tube GO:0048754 9.74 FGF10 GLI3
40 blood vessel morphogenesis GO:0048514 9.74 FGF10 FGFR1
41 embryonic pattern specification GO:0009880 9.74 FGF10 FGFR2
42 limb morphogenesis GO:0035108 9.74 FGF10 GLI3
43 protein localization to cell surface GO:0034394 9.74 FGF10 FGF7
44 regulation of smoothened signaling pathway GO:0008589 9.74 FGF10 FGFR2
45 positive regulation of phospholipase activity GO:0010518 9.74 FGFR1 FGFR2 FGFR3
46 embryonic morphogenesis GO:0048598 9.73 FGF2 GLI3
47 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.73 FGF10 FGF9
48 organ growth GO:0035265 9.73 FGF10 FGFR2
49 lung-associated mesenchyme development GO:0060484 9.73 FGF9 FGFR1 FGFR2
50 organ induction GO:0001759 9.72 FGF10 FGFR1

Molecular functions related to Apert Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.83 FGFR1 FGFR2 FGFR3 RAB23
2 heparin binding GO:0008201 9.8 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
3 protein tyrosine kinase activity GO:0004713 9.8 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
4 growth factor activity GO:0008083 9.78 FGF10 FGF2 FGF7 FGF9
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.7 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.69 FGFR1 FGFR2 FGFR3
7 fibroblast growth factor receptor binding GO:0005104 9.67 FGF10 FGF2 FGF7 FGF9
8 chemoattractant activity GO:0042056 9.63 FGF10 FGF2 FGF7
9 fibroblast growth factor binding GO:0017134 9.61 FGFR1 FGFR2 FGFR3
10 fibroblast growth factor-activated receptor activity GO:0005007 9.58 FGFR1 FGFR2 FGFR3
11 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
12 receptor-receptor interaction GO:0090722 9.49 FGF2 FGFR1
13 1-phosphatidylinositol-3-kinase activity GO:0016303 9.17 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2

Sources for Apert Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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