MCID: APR006
MIFTS: 68

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 54 12 72 50 24 25 56 71 13 52
Acrocephalosyndactyly Type 1 24 56 71
Acrocephalosyndactylia 12 42 14
Acs1 24 56 71
Apert-Crouzon Disease 50 69
Vogt Cephalodactyly 24 69
Acrocephalo-Syndactyly Type 1 50
Acrocephalosyndactyly Type I 29
Syndactylic Oxycephaly 50
Acrocephalosyndactyly 25
Acrocephaly 72
Acs Ii 24
Acs 1 50
Acs I 71
Aprs 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal dominant

Miscellaneous:
paternal age effect
de novo mutation in some cases


HPO:

32
apert syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Apert Syndrome

NIH Rare Diseases : 50 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 acrocephalosyndactyly type 1, is related to pfeiffer syndrome and maroteaux fonfria syndrome, and has symptoms including visual impairment, optic atrophy and strabismus. 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 Ticagrelor and Ticlopidine 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

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.

Genetics Home Reference : 25 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 : 54
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)

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

Wikipedia : 72 Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations... more...

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 64)
id Related Disease Score Top Affiliating Genes
1 pfeiffer syndrome 11.4
2 maroteaux fonfria syndrome 11.0
3 chromosome 2q35 duplication syndrome 10.8
4 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 10.8
5 carpenter syndrome 10.8
6 sakati-nyhan syndrome 10.8
7 saethre-chotzen syndrome 10.8
8 greig cephalopolysyndactyly syndrome 10.8
9 squamous cell carcinoma 10.5 FGF10 FGFR2
10 ocular hypotension 10.3 FGFR2 FGFR3
11 phkg2-related phosphorylase kinase deficiency 10.3 FGFR1 FGFR2
12 partial of retinal vein occlusion 10.2 FGF10 FGF7 FGFR2
13 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 10.2 FGFR1 FGFR2
14 breast intracanalicular fibroadenoma 10.2 FGF2 FGFR3
15 esotropia 10.2 FGFR2 FGFR3
16 crouzon syndrome with acanthosis nigricans 10.1 FGFR2 FGFR3
17 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.1 FGF10 FGF9
18 craniosynostosis 10.0
19 trigonocephaly 1 9.9 FGFR1 FGFR2 FGFR3
20 hypogonadotropic hypogonadism 2 with or without anosmia 9.9 FGFR1 FGFR2 FGFR3
21 thanatophoric dysplasia, type i 9.9 FGFR1 FGFR2 FGFR3
22 crouzon syndrome 9.9
23 hypochondroplasia 9.9 FGFR1 FGFR2 FGFR3
24 gastric linitis plastica 9.8 FGFR3 TWIST1
25 acute opioid poisoning 9.8 FGFR3 TWIST1
26 acne 9.8
27 polyhydramnios 9.8
28 omphalocele 9.8
29 polydactyly 9.8
30 synostosis 9.8
31 simosa craniofacial syndrome 9.8 FGFR2 FGFR3 GLI3
32 odontoma 9.8
33 colorectal cancer 9.8
34 endotheliitis 9.8
35 prostate cancer 9.8
36 prostatitis 9.8
37 weill-marchesani syndrome 9.8 FGFR1 FGFR2
38 congenital diaphragmatic hernia 9.7
39 strabismus 9.7
40 encephalocele 9.7
41 sleep apnea 9.7
42 obstructive sleep apnea 9.7
43 humeroradial synostosis 9.7
44 cervicitis 9.7
45 gastroesophageal reflux 9.7
46 papillary carcinoma 9.7
47 beare-stevenson cutis gyrata syndrome 9.6 FGF2 FGFR1 FGFR2 FGFR3
48 osteopetrosis and infantile neuroaxonal dystrophy 9.6 FGF2 FGF9 FGFR1 FGFR3
49 ischemia 9.5
50 artery disease 9.5

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:

54

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

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

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

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

Genitourinary- Internal Genitalia Male:
cryptorchidism

Head And Neck- Teeth:
malocclusion
delayed dental eruption

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

Growth- Weight:
normal birth length
normal birth weight

Growth- Height:
deceleration of linear growth during childhood

Respiratory- Airways:
anomalous tracheal cartilage

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

Skin Nails & Hair- Skin:
moderate to severe acne

Neurologic- Central Nervous System:
ventriculomegaly
hydrocephalus
agenesis of the corpus callosum
absent septum pellucidum
variable mental retardation
more
Head And Neck- Ears:
hearing loss
chronic otitis media
abnormal semicircular canals

Head And Neck- Mouth:
cleft palate
narrow palate
bifid uvula

Genitourinary- Kidneys:
hydronephrosis

Cardiovascular- Heart:
ventricular septal defect

Abdomen- Gastroin testinal:
esophageal atresia
pyloric stenosis
ectopic anus

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

Genitourinary- Internal Genitalia Female:
vaginal atresia

Cardiovascular- Vascular:
overriding aorta

Skeletal- Skull:
craniosynostosis (coronal)
jugular foraminal stenosis

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

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


Clinical features from OMIM:

101200

Human phenotypes related to Apert Syndrome:

56 32 (show top 50) (show all 80)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
3 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
4 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
5 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
6 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
7 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
8 proptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000520
9 choanal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000453
10 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
11 large fontanelles 56 32 frequent (33%) Frequent (79-30%) HP:0000239
12 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
13 narrow palate 56 32 frequent (33%) Frequent (79-30%) HP:0000189
14 broad forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000337
15 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
16 bifid uvula 56 32 occasional (7.5%) Occasional (29-5%) HP:0000193
17 agenesis of corpus callosum 56 32 frequent (33%) Frequent (79-30%) HP:0001274
18 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
19 finger syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0006101
20 toe syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001770
21 midface retrusion 56 32 frequent (33%) Frequent (79-30%) HP:0011800
22 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
23 downslanted palpebral fissures 56 32 frequent (33%) Frequent (79-30%) HP:0000494
24 flat face 56 32 hallmark (90%) Very frequent (99-80%) HP:0012368
25 micromelia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002983
26 facial asymmetry 56 32 frequent (33%) Frequent (79-30%) HP:0000324
27 esophageal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002032
28 feeding difficulties in infancy 56 32 frequent (33%) Frequent (79-30%) HP:0008872
29 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
30 absent septum pellucidum 56 32 frequent (33%) Frequent (79-30%) HP:0001331
31 cloverleaf skull 56 32 occasional (7.5%) Occasional (29-5%) HP:0002676
32 arnold-chiari malformation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002308
33 broad thumb 56 32 frequent (33%) Frequent (79-30%) HP:0011304
34 acrobrachycephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0004487
35 ectopic anus 56 32 occasional (7.5%) Occasional (29-5%) HP:0004397
36 delayed eruption of teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000684
37 convex nasal ridge 56 32 frequent (33%) Frequent (79-30%) HP:0000444
38 brachyturricephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000244
39 mandibular prognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000303
40 corneal erosion 56 32 occasional (7.5%) Occasional (29-5%) HP:0200020
41 hypoplasia of the maxilla 56 32 hallmark (90%) Very frequent (99-80%) HP:0000327
42 conductive hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000405
43 ovarian neoplasm 56 32 occasional (7.5%) Occasional (29-5%) HP:0100615
44 aplasia/hypoplasia of the thumb 56 32 frequent (33%) Frequent (79-30%) HP:0009601
45 morphological abnormality of the semicircular canal 56 32 frequent (33%) Frequent (79-30%) HP:0011380
46 acne 32 HP:0001061
47 high forehead 32 HP:0000348
48 hydronephrosis 32 HP:0000126
49 cryptorchidism 32 HP:0000028
50 ventricular septal defect 32 HP:0001629

MGI Mouse Phenotypes related to Apert Syndrome:

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

Drugs & Therapeutics for Apert Syndrome

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

(show all 36)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ticagrelor Approved Phase 3,Phase 2 274693-27-5 9871419
2
Ticlopidine Approved Phase 3,Phase 2 55142-85-3 5472
3
Clopidogrel Approved, Nutraceutical Phase 3,Phase 2 120202-66-6, 113665-84-2 60606
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
Eptifibatide Approved, Investigational Phase 2 188627-80-7 123610
11
Heparin Approved, Investigational Phase 2 9005-49-6 772 46507594
12
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
13
Rivaroxaban Approved Phase 2 366789-02-8
14 Anticoagulants Phase 2
15 Antithrombin III Phase 2
16 Antithrombins Phase 2
17 calcium heparin Phase 2
18 Calcium, Dietary Phase 2
19 Factor Xa Inhibitors Phase 2
20 HIV Protease Inhibitors Phase 2
21
Otamixaban Phase 2 193153-04-7
22
protease inhibitors Phase 2
23 Serine Proteinase Inhibitors Phase 2
24 Analgesics Phase 2
25 Analgesics, Non-Narcotic Phase 2
26 Anti-Inflammatory Agents Phase 2
27 Anti-Inflammatory Agents, Non-Steroidal Phase 2
28 Antipyretics Phase 2
29 Antirheumatic Agents Phase 2
30 Cyclooxygenase Inhibitors Phase 2
31 Peripheral Nervous System Agents Phase 2
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:


id 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 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
5 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
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:

id Genetic test Affiliating Genes
1 Acrocephalosyndactyly Type I 29
2 Apert Syndrome 24 FGFR2

Anatomical Context for Apert Syndrome

MalaCards organs/tissues related to Apert Syndrome:

39
Bone, Brain, Heart, Eye, Tonsil, Temporal Lobe, Fetal Brain

Publications for Apert Syndrome

Articles related to Apert Syndrome:

(show top 50) (show all 96)
id Title Authors Year
1
Apert syndrome - clinical case. ( 28523332 )
2017
2
Surgical strategy for Apert syndrome: Retrospective study of developmental quotient and three-dimensional computerized tomography. ( 28338248 )
2017
3
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
4
Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report. ( 28316926 )
2017
5
Apert Syndrome: Report of a rare congenital malformation. ( 28811814 )
2017
6
Prenatal diagnosis of a sporadic Apert syndrome by 3-D ultrasound and 3-D helical computerized tomography. ( 28805624 )
2017
7
EP02.05: Prenatal diagnosis of Apert syndrome. ( 27644546 )
2016
8
Apert syndrome: A consensus on the management of Apert hands. ( 28087285 )
2016
9
EP01.09: The role ofA 2D and 3D ultrasound in the prenatal diagnosis of Apert syndrome. ( 27646570 )
2016
10
Apert syndrome: A case report and review of the literature. ( 28058401 )
2016
11
Apert syndrome: Surgical outcomes and perspectives. ( 27378001 )
2016
12
Apert Syndrome: Outcomes From the Australian Craniofacial Unit's Birth to Maturity Management Protocol. ( 27380568 )
2016
13
Central nervous system and cervical spine abnormalities in Apert syndrome. ( 26861132 )
2016
14
Extensive acne in Apert syndrome. ( 27428282 )
2016
15
Diaphragmatic hernia as an early ultrasound manifestation of Apert syndrome. ( 28098935 )
2016
16
Evaluation of the maxillofacial morphological characteristics of Apert syndrome infants. ( 27534905 )
2016
17
Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome. ( 27339175 )
2016
18
Management of the Airway in Apert Syndrome. ( 26674912 )
2016
19
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
20
Atypical presentation of a newborn with Apert syndrome. ( 25433548 )
2015
21
Apert syndrome: temporal lobe abnormalities on fetal brain imaging. ( 25297884 )
2015
22
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. ( 25867380 )
2015
23
Treatment timing and multidisciplinary approach in Apert syndrome. ( 26330906 )
2015
24
Frontofacial Monobloc Advancement With Simultaneous Frontal Cranioplasty in Adolescents With Residual Apert Syndrome Deformations. ( 26147044 )
2015
25
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
26
Posterior Vault Distraction Osteogenesis Conveys Anterior Benefit in Apert Syndrome. ( 26397550 )
2015
27
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
28
Alternative Methods for Nasotracheal Intubation and Extubation in a Patient With Apert Syndrome. ( 26398130 )
2015
29
Mandibular asymmetry in patients with the crouzon or apert syndrome. ( 24878346 )
2015
30
Perifascial areolar tissue grafting for treating syndactyly with bone fusion in patients with Apert syndrome. ( 26365357 )
2015
31
Molding of top skull in the treatment of Apert syndrome. ( 25699533 )
2015
32
Inhibited Wnt signaling causes age-dependent abnormalities in the bone matrix mineralization in the Apert syndrome FGFR2(S252W/+) mice. ( 25693202 )
2015
33
Erratum: Anesthetic management of craniosynostosis repair in patient with Apert syndrome: Erratum. ( 26543480 )
2015
34
A third report of Apert syndrome in association with diaphragmatic hernia. ( 25714562 )
2015
35
A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family. ( 24486773 )
2014
36
Anesthetic management of craniosynostosis repair in patient with Apert syndrome. ( 25191197 )
2014
37
Assessing the corrective effects of facial bipartition distraction in Apert syndrome using geometric morphometrics. ( 24709088 )
2014
38
Apert Syndrome. ( 26259326 )
2014
39
Apert syndrome with omphalocele: a case report. ( 25045033 )
2014
40
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients. ( 23546041 )
2013
41
The molecular and cellular basis of Apert syndrome. ( 25343114 )
2013
42
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
43
Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome. ( 22664175 )
2012
44
Apert syndrome in a newborn infant without craniosynostosis. ( 22627435 )
2012
45
Manifested strabismus in a case of Apert syndrome. ( 21354088 )
2011
46
Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes. ( 21538817 )
2011
47
Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome. ( 21706505 )
2011
48
Apert syndrome with omphalocele. ( 20877364 )
2010
49
Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester. ( 20708539 )
2010
50
Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis. ( 19940464 )
2010

Variations for Apert Syndrome

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

71
id 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
id 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
id 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 47)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
2
Show member pathways
13.6 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
3
Show member pathways
13.6 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
4
Show member pathways
13.44 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
5
Show member pathways
13.42 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
6
Show member pathways
13.4 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
7
Show member pathways
13.36 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
8
Show member pathways
13.3 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
9
Show member pathways
13.27 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
10
Show member pathways
13.23 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
11
Show member pathways
13.21 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
12
Show member pathways
13.19 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
13
Show member pathways
13 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.98 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.8 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
16
Show member pathways
12.68 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
17
Show member pathways
12.66 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.66 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
19 12.63 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
20 12.63 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
21 12.54 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
22
Show member pathways
12.48 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
23
Show member pathways
12.47 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
24 12.35 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
25
Show member pathways
12.32 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
26
Show member pathways
12.25 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
27
Show member pathways
12.2 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
28
Show member pathways
12.19 FGF2 FGFR1 FGFR2 FGFR3
29 12.18 FGF2 FGFR1 TWIST1
30 12.07 FGF2 FGFR1 FGFR2 FGFR3
31 12.06 FGF2 FGFR1 FGFR2 FGFR3
32 12.03 FGF10 FGF2 FGF7 TBX5
33 11.92 FGF2 FGFR1 FGFR2 FGFR3 TWIST1
34 11.84 FGF2 FGFR1 FGFR2 FGFR3
35 11.83 FGF10 FGF2 TBX5
36
Show member pathways
11.81 FGF2 FGF9 FGFR1
37 11.8 FGF10 FGF2 FGFR1 FGFR3
38
Show member pathways
11.79 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
39 11.7 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
40 11.69 FGF2 FGFR1 FGFR3 GLI3
41 11.64 FGFR1 FGFR2 FGFR3
42
Show member pathways
11.59 FGF2 FGF9 FGFR3
43 11.47 FGFR1 FGFR2 FGFR3
44
Show member pathways
11.37 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
45 11.19 FGF2 FGFR1
46 11.11 FGF2 FGFR1
47 11.07 FGF2 FGFR2

GO Terms for Apert Syndrome

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

id 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 86)
id Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.99 FGFR1 FGFR2 GLI3 TWIST1
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.98 FGF10 FGF2 FGFR2 FGFR3
3 regulation of gene expression GO:0010468 9.93 FGF10 FGFR1 GLI3
4 protein autophosphorylation GO:0046777 9.92 FGFR1 FGFR2 FGFR3
5 positive regulation of MAPK cascade GO:0043410 9.92 FGF10 FGF9 FGFR1 FGFR2 FGFR3
6 positive regulation of canonical Wnt signaling pathway GO:0090263 9.91 FGF10 FGF9 FGFR2
7 animal organ morphogenesis GO:0009887 9.91 FGF10 FGF2 FGFR2
8 wound healing GO:0042060 9.91 FGF10 FGF2 FGFR2 GLI3
9 positive regulation of epithelial cell proliferation GO:0050679 9.91 FGF10 FGF7 FGF9 FGFR2 TWIST1
10 peptidyl-tyrosine phosphorylation GO:0018108 9.91 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
11 inner ear morphogenesis GO:0042472 9.89 FGF10 FGF9 FGFR1 FGFR2
12 embryonic limb morphogenesis GO:0030326 9.89 FGF9 FGFR1 GLI3 TBX5 TWIST1
13 lung development GO:0030324 9.88 FGF10 FGF9 FGFR1 FGFR2 GLI3 TBX5
14 negative regulation of cell differentiation GO:0045596 9.87 FGF10 GLI3 TWIST1
15 positive regulation of cell division GO:0051781 9.87 FGF2 FGF7 FGF9 FGFR2
16 phosphatidylinositol-mediated signaling GO:0048015 9.87 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
17 chondrocyte differentiation GO:0002062 9.85 FGF9 FGFR1 FGFR3
18 positive chemotaxis GO:0050918 9.84 FGF10 FGF2 FGF7
19 positive regulation of cardiac muscle cell proliferation GO:0060045 9.83 FGF2 FGF9 FGFR1 FGFR2 TBX5
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.81 FGF9 FGFR1 FGFR2
21 hair follicle morphogenesis GO:0031069 9.8 FGF10 FGF7 FGFR2
22 phosphatidylinositol phosphorylation GO:0046854 9.8 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
23 embryonic digestive tract morphogenesis GO:0048557 9.79 FGF10 FGFR2 GLI3
24 embryonic digestive tract development GO:0048566 9.78 FGF10 FGF9 GLI3
25 branching involved in salivary gland morphogenesis GO:0060445 9.78 FGF10 FGF7 FGFR1 FGFR2
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 bone mineralization GO:0030282 9.76 FGFR2 FGFR3
30 embryonic cranial skeleton morphogenesis GO:0048701 9.76 FGFR2 TWIST1
31 digestive tract development GO:0048565 9.76 FGF10 FGFR2
32 lung alveolus development GO:0048286 9.76 FGF10 FGFR2
33 odontogenesis GO:0042476 9.76 FGFR2 TWIST1
34 lung-associated mesenchyme development GO:0060484 9.76 FGF9 FGFR1 FGFR2
35 metanephros development GO:0001656 9.75 FGF10 GLI3
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 blood vessel morphogenesis GO:0048514 9.75 FGF10 FGFR1
40 positive regulation of phospholipase activity GO:0010518 9.75 FGFR1 FGFR2 FGFR3
41 branching morphogenesis of an epithelial tube GO:0048754 9.74 FGF10 GLI3
42 embryonic pattern specification GO:0009880 9.74 FGF10 FGFR2
43 limb morphogenesis GO:0035108 9.74 FGF10 GLI3
44 protein localization to cell surface GO:0034394 9.74 FGF10 FGF7
45 regulation of smoothened signaling pathway GO:0008589 9.74 FGF10 FGFR2
46 embryonic morphogenesis GO:0048598 9.74 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 organ induction GO:0001759 9.73 FGF10 FGFR1
50 salivary gland morphogenesis GO:0007435 9.72 FGF10 FGFR1

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

(show all 13)
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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