APRS
MCID: APR006
MIFTS: 68

Apert Syndrome (APRS)

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 57 12 76 53 25 59 75 37 13 55 40
Acrocephalosyndactylia 12 44 15
Acs1 57 59 75
Acrocephalosyndactyly Type 1 59 75
Acrocephalosyndactyly Type I 29 6
Apert-Crouzon Disease 53 73
Acs I 57 75
Acrocephalosyndactyly, Type I; Acs1 57
Acrocephalosyndactyly, Type I 57
Acrocephalo-Syndactyly Type 1 53
Syndactylic Oxycephaly 53
Acrocephalosyndactyly 25
Acs 1 53
Aprs 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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 : 53 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.

MalaCards based summary : Apert Syndrome, also known as acrocephalosyndactylia, is related to chromosome 2q35 duplication syndrome and saethre-chotzen syndrome. 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 hypertelorism and agenesis of corpus callosum

Disease Ontology : 12 A synostosis that results in craniosynostosis and syndactyly.

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 : 57 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 : 75 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.

Wikipedia : 76 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 73)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 30.9 FGFR2 FGFR3 GLI3
2 saethre-chotzen syndrome 29.7 FGFR1 FGFR2 FGFR3 TWIST1
3 pfeiffer syndrome 29.5 FGF10 FGF7 FGFR1 FGFR2 FGFR3 TWIST1
4 crouzon syndrome 29.2 FGF2 FGFR1 FGFR2 FGFR3
5 diaphragmatic hernia, congenital 29.2 FGF10 FGF7 GLI3
6 strabismus 28.6 FGFR2 FGFR3 TWIST1
7 craniosynostosis 26.8 FGF10 FGF2 FGF9 FGFR1 FGFR2 FGFR3
8 synostosis 26.2 FGFR1 FGFR2 FGFR3 GLI3 RAB23 TWIST1
9 maroteaux fonfria syndrome 11.1
10 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 10.9
11 acrocephalopolysyndactyly type iii 10.9
12 greig cephalopolysyndactyly syndrome 10.9
13 carpenter syndrome 1 10.9
14 acanthoma 10.5 FGF10 FGFR2
15 hemifacial hyperplasia 10.5 FGFR2 FGFR3
16 pleuropulmonary blastoma 10.3 FGF10 FGF9
17 luteoma 10.3 FGFR2 FGFR3
18 clear cell acanthoma 10.2 FGF10 FGF7 FGFR2
19 radioulnar synostosis 10.2 FGFR1 FGFR2
20 hypertropia 10.1 FGFR2 FGFR3
21 osteoglophonic dysplasia 9.9 FGFR1 FGFR2 FGFR3
22 beare-stevenson cutis gyrata syndrome 9.9 FGFR2 FGFR3 RAB23
23 jackson-weiss syndrome 9.9 FGFR1 FGFR2 FGFR3
24 aging 9.9
25 polydactyly 9.9
26 omphalocele 9.9
27 polyhydramnios 9.9
28 antley-bixler syndrome 9.9 FGFR1 FGFR2
29 thanatophoric dysplasia, type i 9.9 FGFR1 FGFR2 FGFR3
30 chondroblastoma 9.9 FGFR1 FGFR3
31 hypochondroplasia 9.8 FGFR1 FGFR2 FGFR3
32 achondroplasia 9.8 FGFR1 FGFR2 FGFR3
33 isolated plagiocephaly 9.8 FGFR3 TWIST1
34 arteries, anomalies of 9.8
35 hypertension, essential 9.8
36 coronary artery anomaly 9.8
37 diabetes mellitus 9.8
38 kidney disease 9.8
39 aneurysm 9.8
40 isolated brachycephaly 9.8 FGFR3 TWIST1
41 apnea, obstructive sleep 9.7
42 gastroesophageal reflux 9.7
43 cleft palate, isolated 9.7
44 humeroradial synostosis 9.7
45 kleeblattschaedel 9.7
46 septooptic dysplasia 9.7
47 sturge-weber syndrome 9.7
48 pierre robin syndrome 9.7
49 choanal atresia, posterior 9.7
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 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:

57
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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Cardiovascular Heart:
ventricular septal defect

Abdomen Gastrointestinal:
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:

59 32 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
3 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
4 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
5 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
6 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
7 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
8 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
9 narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0000189
10 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
11 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
12 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
13 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
14 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
15 broad thumb 59 32 frequent (33%) Frequent (79-30%) HP:0011304
16 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
17 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
18 cloverleaf skull 59 32 occasional (7.5%) Occasional (29-5%) HP:0002676
19 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
20 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
21 micromelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002983
22 corneal erosion 59 32 occasional (7.5%) Occasional (29-5%) HP:0200020
23 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
24 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
25 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
26 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308
27 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
28 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
29 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
30 choanal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000453
31 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
32 convex nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000444
33 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
34 large fontanelles 59 32 frequent (33%) Frequent (79-30%) HP:0000239
35 ovarian neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0100615
36 absent septum pellucidum 59 32 frequent (33%) Frequent (79-30%) HP:0001331
37 facial asymmetry 59 32 frequent (33%) Frequent (79-30%) HP:0000324
38 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001770
39 bifid uvula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000193
40 brachyturricephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000244
41 esophageal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002032
42 ectopic anus 59 32 occasional (7.5%) Occasional (29-5%) HP:0004397
43 acrobrachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0004487
44 aplasia/hypoplasia of the thumb 59 32 frequent (33%) Frequent (79-30%) HP:0009601
45 morphological abnormality of the semicircular canal 59 32 frequent (33%) Frequent (79-30%) HP:0011380
46 malar flattening 32 HP:0000272
47 megalencephaly 32 HP:0001355
48 hearing impairment 32 HP:0000365
49 chronic otitis media 32 HP:0000389
50 dental malocclusion 32 HP:0000689

MGI Mouse Phenotypes related to Apert Syndrome:

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

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 9005-49-6 772 46507594
14
Serine Approved, Nutraceutical Phase 2 56-45-1 5951
15
Otamixaban Investigational Phase 2 193153-04-7
16 Analgesics Phase 2
17 Analgesics, Non-Narcotic Phase 2
18 Anticoagulants Phase 2
19 Anti-Inflammatory Agents Phase 2
20 Anti-Inflammatory Agents, Non-Steroidal Phase 2
21 Antipyretics Phase 2
22 Antirheumatic Agents Phase 2
23 Antithrombin III Phase 2
24 Antithrombins Phase 2
25 Cyclooxygenase Inhibitors Phase 2
26 Factor Xa Inhibitors Phase 2
27 HIV Protease Inhibitors Phase 2
28 Peripheral Nervous System Agents Phase 2
29
protease inhibitors Phase 2
30 Serine Proteinase Inhibitors Phase 2
31 calcium heparin Phase 2
32 Calcium, Dietary Phase 2,Not Applicable
33
Amlodipine Approved Not Applicable 88150-42-9 2162
34 Antihypertensive Agents Not Applicable
35 calcium channel blockers Not Applicable
36 Vasodilator Agents Not Applicable

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 Not Applicable
7 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
8 Azilsartan Circadian and Sleep Pressure Completed NCT01762501 Not Applicable Azilsartan;Amlodipine
9 Dairy Products and Metabolic Effects (Norwegian Part) Completed NCT00140816 Not Applicable

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 29 FGFR2

Anatomical Context for Apert Syndrome

MalaCards organs/tissues related to Apert Syndrome:

41
Bone, Brain, Heart, Eye, Tonsil, Fetal Brain, Temporal Lobe

Publications for Apert Syndrome

Articles related to Apert Syndrome:

(show top 50) (show all 131)
# Title Authors Year
1
A 37-year-old Nigerian woman with Apert syndrome - medical and psychosocial perspectives: a case report. ( 29753329 )
2018
2
Apert syndrome: Be aware of the 'dodgy' hip! ( 29973408 )
2018
3
Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review. ( 29441430 )
2018
4
Fetal brain MRI in Apert syndrome: early in vivo detection of temporal lobe malformation. ( 29955939 )
2018
5
A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection? ( 29476210 )
2018
6
Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies. ( 29198073 )
2018
7
Founding of the Brazilian Association of Apert Syndrome. ( 29944569 )
2018
8
The Role of Bipartition Distraction in the Treatment of Apert Syndrome. ( 29481405 )
2018
9
Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report. ( 29868125 )
2018
10
Two patients with Apert syndrome with different mutations: the importance of early diagnosis. ( 29483804 )
2017
11
Prenatal diagnosis of a sporadic Apert syndrome by 3-D ultrasound and 3-D helical computerized tomography. ( 28805624 )
2017
12
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
13
Surgical strategy for Apert syndrome: Retrospective study of developmental quotient and three-dimensional computerized tomography. ( 28338248 )
2017
14
Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report. ( 28316926 )
2017
15
Apert Syndrome: Report of a rare congenital malformation. ( 28811814 )
2017
16
Craniosynostosis: Acrocephalosyndactyly (Apert Syndrome) Diagnosed in a Newborn. ( 29668474 )
2017
17
Dental approach for Apert syndrome in children: a systematic review. ( 29053644 )
2017
18
Apert syndrome - clinical case. ( 28523332 )
2017
19
EP02.05: Prenatal diagnosis of Apert syndrome. ( 27644546 )
2016
20
EP01.09: The role ofA 2D and 3D ultrasound in the prenatal diagnosis of Apert syndrome. ( 27646570 )
2016
21
Apert Syndrome: Outcomes From the Australian Craniofacial Unit's Birth to Maturity Management Protocol. ( 27380568 )
2016
22
Extensive acne in Apert syndrome. ( 27428282 )
2016
23
Evaluation of the maxillofacial morphological characteristics of Apert syndrome infants. ( 27534905 )
2016
24
Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome. ( 27339175 )
2016
25
Apert syndrome: Surgical outcomes and perspectives. ( 27378001 )
2016
26
Apert syndrome: A consensus on the management of Apert hands. ( 28087285 )
2016
27
Apert syndrome: A case report and review of the literature. ( 28058401 )
2016
28
Diaphragmatic hernia as an early ultrasound manifestation of Apert syndrome. ( 28098935 )
2016
29
Management of the Airway in Apert Syndrome. ( 26674912 )
2016
30
Central nervous system and cervical spine abnormalities in Apert syndrome. ( 26861132 )
2016
31
Erratum: Anesthetic management of craniosynostosis repair in patient with Apert syndrome: Erratum. ( 26543480 )
2015
32
Molding of top skull in the treatment of Apert syndrome. ( 25699533 )
2015
33
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
34
Frontofacial Monobloc Advancement With Simultaneous Frontal Cranioplasty in Adolescents With Residual Apert Syndrome Deformations. ( 26147044 )
2015
35
A third report of Apert syndrome in association with diaphragmatic hernia. ( 25714562 )
2015
36
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
37
Apert syndrome: temporal lobe abnormalities on fetal brain imaging. ( 25297884 )
2015
38
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
39
Inhibited Wnt signaling causes age-dependent abnormalities in the bone matrix mineralization in the Apert syndrome FGFR2(S252W/+) mice. ( 25693202 )
2015
40
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. ( 25867380 )
2015
41
Atypical presentation of a newborn with Apert syndrome. ( 25433548 )
2015
42
Posterior Vault Distraction Osteogenesis Conveys Anterior Benefit in Apert Syndrome. ( 26397550 )
2015
43
Alternative Methods for Nasotracheal Intubation and Extubation in a Patient With Apert Syndrome. ( 26398130 )
2015
44
Mandibular asymmetry in patients with the crouzon or apert syndrome. ( 24878346 )
2015
45
Treatment timing and multidisciplinary approach in Apert syndrome. ( 26330906 )
2015
46
Perifascial areolar tissue grafting for treating syndactyly with bone fusion in patients with Apert syndrome. ( 26365357 )
2015
47
Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case. ( 24566675 )
2014
48
Apert Syndrome. ( 26259326 )
2014
49
Assessing the corrective effects of facial bipartition distraction in Apert syndrome using geometric morphometrics. ( 24709088 )
2014
50
A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family. ( 24486773 )
2014

Variations for Apert Syndrome

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

75
# 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
(show top 50) (show all 127)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic rs79184941 GRCh37 Chromosome 10, 123279677: 123279677
2 FGFR2 NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic rs79184941 GRCh38 Chromosome 10, 121520163: 121520163
3 FGFR2 NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg) single nucleotide variant Pathogenic rs77543610 GRCh37 Chromosome 10, 123279674: 123279674
4 FGFR2 NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg) single nucleotide variant Pathogenic rs77543610 GRCh38 Chromosome 10, 121520160: 121520160
5 FGFR2 NM_000141.4(FGFR2): c.755_756delCGinsTT (p.Ser252Phe) indel Likely pathogenic rs121918498 GRCh37 Chromosome 10, 123279676: 123279677
6 FGFR2 NM_000141.4(FGFR2): c.755_756delCGinsTT (p.Ser252Phe) indel Likely pathogenic rs121918498 GRCh38 Chromosome 10, 121520162: 121520163
7 FGFR2 FGFR2, ALU INS insertion Pathogenic
8 FGFR2 NM_000141.4(FGFR2): c.756_758delGCCinsCTT (p.Pro253Phe) indel Pathogenic rs387907372 GRCh37 Chromosome 10, 123279674: 123279676
9 FGFR2 NM_000141.4(FGFR2): c.756_758delGCCinsCTT (p.Pro253Phe) indel Pathogenic rs387907372 GRCh38 Chromosome 10, 121520160: 121520162
10 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
11 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
12 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
13 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
14 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh37 Chromosome 10, 123243197: 123243197
15 FGFR2 NM_000141.4(FGFR2): c.2301+15C> T single nucleotide variant Benign rs2278202 GRCh38 Chromosome 10, 121483683: 121483683
16 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh38 Chromosome 10, 121488036: 121488036
17 FGFR2 NM_000141.4(FGFR2): c.1941C> T (p.Leu647=) single nucleotide variant Benign rs35337478 GRCh37 Chromosome 10, 123247550: 123247550
18 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh37 Chromosome 10, 123298158: 123298158
19 FGFR2 NM_000141.4(FGFR2): c.696A> G (p.Val232=) single nucleotide variant Benign rs1047100 GRCh38 Chromosome 10, 121538644: 121538644
20 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh37 Chromosome 10, 123353213: 123353213
21 FGFR2 NM_000141.4(FGFR2): c.109+10T> G single nucleotide variant Benign/Likely benign rs3135722 GRCh38 Chromosome 10, 121593699: 121593699
22 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh37 Chromosome 10, 123237869: 123237873
23 FGFR2 NM_000141.4(FGFR2): c.*1498_*1502delATAAA deletion Likely benign rs566259479 GRCh38 Chromosome 10, 121478355: 121478359
24 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh37 Chromosome 10, 123237969: 123237969
25 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 GRCh38 Chromosome 10, 121478455: 121478455
26 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh37 Chromosome 10, 123238002: 123238002
27 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 GRCh38 Chromosome 10, 121478488: 121478488
28 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh37 Chromosome 10, 123238902: 123238902
29 FGFR2 NM_000141.4(FGFR2): c.*469G> A single nucleotide variant Benign rs41294351 GRCh38 Chromosome 10, 121479388: 121479388
30 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh37 Chromosome 10, 123239112: 123239112
31 FGFR2 NM_000141.4(FGFR2): c.*259C> T single nucleotide variant Benign rs1047057 GRCh38 Chromosome 10, 121479598: 121479598
32 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh37 Chromosome 10, 123239260: 123239260
33 FGFR2 NM_000141.4(FGFR2): c.*111G> A single nucleotide variant Likely benign rs574474794 GRCh38 Chromosome 10, 121479746: 121479746
34 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh38 Chromosome 10, 121496734: 121496734
35 FGFR2 NM_000141.4(FGFR2): c.1673-12C> T single nucleotide variant Likely benign rs41293763 GRCh37 Chromosome 10, 123256248: 123256248
36 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 GRCh37 Chromosome 10, 123353459: 123353459
37 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 GRCh38 Chromosome 10, 121593945: 121593945
38 FGFR2 NM_000141.4(FGFR2): c.-135C> T single nucleotide variant Likely benign rs554557891 GRCh37 Chromosome 10, 123353466: 123353466
39 FGFR2 NM_000141.4(FGFR2): c.-135C> T single nucleotide variant Likely benign rs554557891 GRCh38 Chromosome 10, 121593952: 121593952
40 FGFR2 NM_000141.4(FGFR2): c.-236G> C single nucleotide variant Benign rs1047111 GRCh37 Chromosome 10, 123357561: 123357561
41 FGFR2 NM_000141.4(FGFR2): c.-236G> C single nucleotide variant Benign rs1047111 GRCh38 Chromosome 10, 121598047: 121598047
42 FGFR2 NM_000141.4(FGFR2): c.-318G> C single nucleotide variant Benign rs41301547 GRCh37 Chromosome 10, 123357643: 123357643
43 FGFR2 NM_000141.4(FGFR2): c.-318G> C single nucleotide variant Benign rs41301547 GRCh38 Chromosome 10, 121598129: 121598129
44 FGFR2 NM_000141.4(FGFR2): c.-535G> C single nucleotide variant Uncertain significance rs886046767 GRCh37 Chromosome 10, 123357860: 123357860
45 FGFR2 NM_000141.4(FGFR2): c.-535G> C single nucleotide variant Uncertain significance rs886046767 GRCh38 Chromosome 10, 121598346: 121598346
46 FGFR2 NM_000141.4(FGFR2): c.*1301C> T single nucleotide variant Likely benign rs71640261 GRCh37 Chromosome 10, 123238070: 123238070
47 FGFR2 NM_000141.4(FGFR2): c.*1301C> T single nucleotide variant Likely benign rs71640261 GRCh38 Chromosome 10, 121478556: 121478556
48 FGFR2 NM_000141.4(FGFR2): c.*1126T> C single nucleotide variant Uncertain significance rs370106008 GRCh37 Chromosome 10, 123238245: 123238245
49 FGFR2 NM_000141.4(FGFR2): c.*1126T> C single nucleotide variant Uncertain significance rs370106008 GRCh38 Chromosome 10, 121478731: 121478731
50 FGFR2 NM_000141.4(FGFR2): c.*921G> A single nucleotide variant Likely benign rs185617859 GRCh37 Chromosome 10, 123238450: 123238450

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 top 50) (show all 51)
# 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
13.43 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
5
Show member pathways
13.43 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
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
13.29 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
12.93 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
17
Show member pathways
12.83 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
18
Show member pathways
12.75 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
Show member pathways
12.68 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.68 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
23
Show member pathways
12.66 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
24 12.64 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
12.21 FGF2 FGFR1 FGFR2 FGFR3
29 12.18 FGF2 FGFR1 TWIST1
30
Show member pathways
12.18 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
31 12.11 FGF2 FGFR1 FGFR2 FGFR3
32
Show member pathways
12.1 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
33 12.07 FGF2 FGFR1 FGFR2 FGFR3
34
Show member pathways
12.06 FGF10 FGF2 FGF7 FGFR1 FGFR2 FGFR3
35 12.05 FGF10 FGF2 FGF7 TBX5
36 12.04 FGFR1 FGFR2 FGFR3
37
Show member pathways
12.04 FGFR1 FGFR2 FGFR3
38 11.94 FGF2 FGFR1 FGFR2 FGFR3 TWIST1
39 11.87 FGF2 FGFR1 FGFR2 FGFR3
40
Show member pathways
11.82 FGF2 FGF9 FGFR1
41 11.81 FGF10 FGF2 FGFR1 FGFR3
42
Show member pathways
11.79 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
43 11.71 FGF2 FGFR1 FGFR3 GLI3
44 11.66 FGFR1 FGFR2 FGFR3
45
Show member pathways
11.61 FGF2 FGF9 FGFR3
46 11.49 FGFR1 FGFR2 FGFR3
47 11.39 FGF2 FGF7 FGFR1 FGFR2 FGFR3
48
Show member pathways
11.37 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
49 11.2 FGF2 FGFR1
50 11.12 FGF2 FGFR1

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
2 receptor complex GO:0043235 9.13 FGFR1 FGFR2 FGFR3

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

(show top 50) (show all 87)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.99 FGF10 FGF2 FGF9 FGFR1 FGFR2
2 in utero embryonic development GO:0001701 9.98 FGFR1 FGFR2 GLI3 TWIST1
3 MAPK cascade GO:0000165 9.98 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
4 protein autophosphorylation GO:0046777 9.93 FGFR1 FGFR2 FGFR3
5 positive regulation of MAPK cascade GO:0043410 9.93 FGF10 FGF9 FGFR1 FGFR2 FGFR3
6 positive regulation of canonical Wnt signaling pathway GO:0090263 9.92 FGF10 FGF9 FGFR2
7 wound healing GO:0042060 9.92 FGF10 FGF2 FGFR2 GLI3
8 central nervous system development GO:0007417 9.91 FGFR1 FGFR2 GLI3
9 animal organ morphogenesis GO:0009887 9.91 FGF10 FGF2 FGFR2
10 negative regulation of signal transduction GO:0009968 9.91 FGFR1 FGFR2 FGFR3
11 positive regulation of epithelial cell proliferation GO:0050679 9.89 FGF10 FGF7 FGF9 FGFR2 TWIST1
12 positive regulation of kinase activity GO:0033674 9.88 FGFR1 FGFR2 FGFR3
13 inner ear morphogenesis GO:0042472 9.88 FGF10 FGF9 FGFR1 FGFR2
14 embryonic limb morphogenesis GO:0030326 9.88 FGF9 FGFR1 GLI3 TBX5 TWIST1
15 negative regulation of cell differentiation GO:0045596 9.87 FGF10 GLI3 TWIST1
16 peptidyl-tyrosine phosphorylation GO:0018108 9.87 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
17 chondrocyte differentiation GO:0002062 9.85 FGF9 FGFR1 FGFR3
18 positive chemotaxis GO:0050918 9.85 FGF10 FGF2 FGF7
19 positive regulation of cell division GO:0051781 9.85 FGF2 FGF7 FGF9 FGFR2
20 lung development GO:0030324 9.85 FGF10 FGF9 FGFR1 FGFR2 GLI3 TBX5
21 positive regulation of mesenchymal cell proliferation GO:0002053 9.81 FGF9 FGFR1 FGFR2
22 hair follicle morphogenesis GO:0031069 9.81 FGF10 FGF7 FGFR2
23 embryonic digestive tract morphogenesis GO:0048557 9.8 FGF10 FGFR2 GLI3
24 positive regulation of cardiac muscle cell proliferation GO:0060045 9.8 FGF2 FGF9 FGFR1 FGFR2 TBX5
25 positive regulation of protein kinase B signaling GO:0051897 9.8 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
26 embryonic digestive tract development GO:0048566 9.79 FGF10 FGF9 GLI3
27 midbrain development GO:0030901 9.76 FGFR1 FGFR2
28 bone mineralization GO:0030282 9.76 FGFR2 FGFR3
29 metanephros development GO:0001656 9.76 FGF10 GLI3
30 odontogenesis GO:0042476 9.76 FGFR2 TWIST1
31 embryonic cranial skeleton morphogenesis GO:0048701 9.76 FGFR2 TWIST1
32 lung alveolus development GO:0048286 9.76 FGF10 FGFR2
33 embryonic forelimb morphogenesis GO:0035115 9.76 TBX5 TWIST1
34 bone morphogenesis GO:0060349 9.76 FGFR2 FGFR3
35 branching morphogenesis of an epithelial tube GO:0048754 9.76 FGF10 GLI3
36 branching involved in salivary gland morphogenesis GO:0060445 9.76 FGF10 FGF7 FGFR1 FGFR2
37 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.75 FGF2 FGFR3
38 blood vessel morphogenesis GO:0048514 9.75 FGF10 FGFR1
39 embryonic pattern specification GO:0009880 9.75 FGF10 FGFR2
40 limb morphogenesis GO:0035108 9.75 FGF10 GLI3
41 positive regulation of vascular endothelial cell proliferation GO:1905564 9.75 FGF2 FGFR1
42 protein localization to cell surface GO:0034394 9.75 FGF10 FGF7
43 positive regulation of phospholipase activity GO:0010518 9.75 FGFR1 FGFR2 FGFR3
44 regulation of smoothened signaling pathway GO:0008589 9.74 FGF10 FGFR2
45 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.74 FGF10 FGF9
46 embryonic morphogenesis GO:0048598 9.74 FGF2 GLI3
47 lung-associated mesenchyme development GO:0060484 9.74 FGF9 FGFR1 FGFR2
48 organ growth GO:0035265 9.73 FGF10 FGFR2
49 limb bud formation GO:0060174 9.73 FGF10 FGFR2
50 organ induction GO:0001759 9.73 FGF10 FGFR1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.85 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 MAP kinase kinase kinase activity GO:0004709 9.71 FGFR1 FGFR2 FGFR3
6 mitogen-activated protein kinase kinase binding GO:0031434 9.7 FGFR1 FGFR2 FGFR3
7 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.7 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
8 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.69 FGFR1 FGFR2 FGFR3
9 fibroblast growth factor receptor binding GO:0005104 9.67 FGF10 FGF2 FGF7 FGF9
10 chemoattractant activity GO:0042056 9.63 FGF10 FGF2 FGF7
11 fibroblast growth factor binding GO:0017134 9.61 FGFR1 FGFR2 FGFR3
12 fibroblast growth factor-activated receptor activity GO:0005007 9.58 FGFR1 FGFR2 FGFR3
13 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
14 receptor-receptor interaction GO:0090722 9.49 FGF2 FGFR1
15 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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