APRS
MCID: APR006
MIFTS: 69

Apert Syndrome (APRS)

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

Aliases & Classifications for Apert Syndrome

MalaCards integrated aliases for Apert Syndrome:

Name: Apert Syndrome 57 12 73 25 20 43 58 72 36 13 54 39
Acrocephalosyndactyly Type I 25 43 29 6
Acrocephalosyndactylia 12 58 44 15
Acrocephalosyndactyly 43 58 6
Acs1 57 58 72
Acrocephalosyndactyly Type 1 58 72
Apert-Crouzon Disease 20 70
Acs I 57 72
Acrocephalosyndactyly, Type I; Acs1 57
Acrocephalosyndactyly, Type I 57
Acrocephalo-Syndactyly Type 1 20
Type I Acrocephalosyndactyly 43
Syndactylic Oxycephaly 20
Apert's Syndrome 43
Acs 1 20
Aprs 72
Acs 58

Characteristics:

Orphanet epidemiological data:

58
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;
acrocephalosyndactyly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
paternal age effect
de novo mutation in most cases


HPO:

31
apert syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Apert Syndrome

MedlinePlus Genetics : 43 Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (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).Craniosynostosis causes many of the characteristic facial features of Apert syndrome. Premature fusion of the skull bones prevents the head from growing normally, which leads to a sunken appearance in the middle of the face (midface hypoplasia), a beaked nose, a wrinkled forehead, and an opening in the roof of the mouth (a cleft palate). In individuals with Apert syndrome, an underdeveloped upper jaw can lead to dental problems, such as missing teeth, irregular tooth enamel, and crowded teeth.Many individuals with Apert syndrome have vision problems due to eye abnormalities, which can include bulging eyes (exophthalmos), wide-set eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), eyes that do not look in the same direction (strabismus), and shallow eye sockets (ocular proptosis). Some people with Apert syndrome have hearing loss or recurrent ear infections due to malformed ear structures.Abnormal development of structures in the face and head can also cause partial blockage of the airways and lead to breathing difficulties in people with Apert syndrome. Craniosynostosis also affects development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.Individuals with Apert syndrome have syndactyly of the fingers and toes. The severity of the fusion varies, although the hands tend to be more severely affected than the feet. Most commonly, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Rarely, people with Apert syndrome may have extra fingers or toes (polydactyly). Some people with Apert syndrome have abnormalities in the bones of the elbows or shoulders. These bone problems can restrict movement and impede everyday activities. In some people, abnormalities occur in both sides of the body, but in others, only one side is affected.Additional signs and symptoms of Apert syndrome can include unusually heavy sweating (hyperhidrosis), oily skin with severe acne, or patches of missing hair in the eyebrows.

MalaCards based summary : Apert Syndrome, also known as acrocephalosyndactyly type i, is related to acrocallosal syndrome and fgfr craniosynostosis syndromes. An important gene associated with Apert Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are HIV Life Cycle and GPCR Pathway. The drugs Cyclophosphamide and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and heart, and related phenotypes are frontal bossing and depressed nasal bridge

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

GARD : 20 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.

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) (Updated 20-May-2021)

KEGG : 36 Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. Other frequent complications include cleft palate and learning disability. Over 98% of cases are caused by specific missense mutations of FGFR2, either Ser252Trp or Pro253Arg.

UniProtKB/Swiss-Prot : 72 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 : 73 Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations... more...

GeneReviews: NBK541728

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 444)
# Related Disease Score Top Affiliating Genes
1 acrocallosal syndrome 32.6 RAB23 GLI3 FGF2
2 fgfr craniosynostosis syndromes 31.2 FGFR3 FGFR2 FGFR1
3 hypertelorism 31.1 TWIST1 FGFR2 EFNB1
4 chromosome 2q35 duplication syndrome 31.1 TWIST1 RAB23 MSX2 GLI3 FGFR3 FGFR2
5 craniosynostosis 1 30.5 TWIST1 FGFR3 FGFR2
6 syndromic craniosynostosis 30.5 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
7 craniosynostosis 30.3 TWIST1 RUNX2 MSX2 GLI3 FGFR3 FGFR2
8 hypochondroplasia 30.2 FGFR3 FGFR2 FGFR1
9 cleft palate, isolated 30.2 TWIST1 TBX5 RUNX2 MSX2 GLI3 FGFR3
10 antley-bixler syndrome 30.2 FGFR3 FGFR2 FGFR1
11 plagiocephaly 30.1 TWIST1 FGFR3 FGFR2 FGFR1
12 anus, imperforate 30.1 GLI3 FGF10 CFAP47
13 diaphragmatic hernia, congenital 30.1 TBX5 GLI3 FGF7 FGF10 EFNB1
14 nevus, epidermal 30.1 FGFR3 FGFR2 FGFR1
15 tooth agenesis 30.1 RUNX2 MSX2 GLI3 FGFR2 FGFR1 FGF10
16 ankylosis 30.1 RUNX2 FGFR2 FGFR1
17 achondroplasia 30.1 MSX2 FGFR3 FGFR2 FGFR1
18 carpenter syndrome 1 30.1 RAB23 GLI3 FGFR3 FGFR2
19 synostosis 29.9 TWIST1 RUNX2 RAB23 MSX2 GLI3 FGFR3
20 brachydactyly 29.8 RUNX2 RAB23 MSX2 FGFR3 FGF9
21 jackson-weiss syndrome 29.8 MSX2 FGFR3 FGFR2 FGFR1 FGF10 EFNB1
22 dysostosis 29.7 TWIST1 RUNX2 MSX2 GLI3 FGFR3 FGFR2
23 crouzon syndrome 29.6 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
24 saethre-chotzen syndrome 29.6 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
25 muenke syndrome 29.5 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF9
26 pfeiffer syndrome 29.3 TWIST1 RUNX2 MSX2 GLI3 FGFR3 FGFR2
27 auriculo-condylar syndrome 11.2
28 robinow-sorauf syndrome 11.1
29 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 11.0
30 auriculocondylar syndrome 1 10.9
31 acrocephalopolysyndactyly type iii 10.9
32 greig cephalopolysyndactyly syndrome 10.9
33 ischemia 10.7
34 intermediate coronary syndrome 10.6
35 myocardial infarction 10.6
36 exophthalmos 10.5
37 urinary tract infection 10.4
38 thrombophilia due to thrombin defect 10.4
39 acute myocardial infarction 10.4
40 cardiogenic shock 10.4
41 hydrocephalus 10.4
42 acne 10.4
43 intracranial hypertension 10.4
44 clear cell acanthoma 10.4 FGFR2 FGF7 FGF10
45 compartment syndrome 10.4
46 dacryocystocele 10.3 FGFR3 FGFR2 FGF10
47 chronic inflammation of lacrimal passage 10.3 FGFR3 FGFR2 FGF10
48 aplasia of lacrimal and salivary glands 10.3 FGFR2 FGF7 FGF10
49 toxic shock syndrome 10.3
50 pseudopterygium 10.3 FGFR1 FGF7 FGF2

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



Diseases related to Apert Syndrome

Symptoms & Phenotypes for Apert Syndrome

Human phenotypes related to Apert Syndrome:

58 31 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
4 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
5 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
6 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
7 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
8 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
9 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
10 brachyturricephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000244
11 acrobrachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004487
12 short neck 31 hallmark (90%) HP:0000470
13 hepatomegaly 31 hallmark (90%) HP:0002240
14 thickened nuchal skin fold 31 hallmark (90%) HP:0000474
15 obesity 31 hallmark (90%) HP:0001513
16 turricephaly 31 hallmark (90%) HP:0000262
17 craniosynostosis 31 hallmark (90%) HP:0001363
18 multicystic kidney dysplasia 31 hallmark (90%) HP:0000003
19 omphalocele 31 hallmark (90%) HP:0001539
20 thickened skin 31 hallmark (90%) HP:0001072
21 biliary tract abnormality 31 hallmark (90%) HP:0001080
22 pulmonary hypoplasia 31 hallmark (90%) HP:0002089
23 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
24 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
25 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
26 narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0000189
27 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
28 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
29 broad thumb 58 31 frequent (33%) Frequent (79-30%) HP:0011304
30 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
31 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
32 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
33 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
34 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
35 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
36 absent septum pellucidum 58 31 frequent (33%) Frequent (79-30%) HP:0001331
37 convex nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000444
38 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
39 aplasia/hypoplasia of the thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009601
40 morphological abnormality of the semicircular canal 58 31 frequent (33%) Frequent (79-30%) HP:0011380
41 abnormality of the spleen 31 frequent (33%) HP:0001743
42 cervical c5/c6 vertebrae fusion 31 frequent (33%) HP:0004635
43 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
44 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
45 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
46 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
47 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
48 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
49 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
50 arnold-chiari malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002308

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
megalencephaly
acrobrachycephaly
turribrachycephaly
large fontanel
late-closing fontanel

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

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

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

Genitourinary Kidneys:
hydronephrosis

Cardiovascular Vascular:
overriding aorta

Genitourinary Internal Genitalia Female:
vaginal atresia

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

Growth Weight:
normal birth weight
normal birth length

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 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 Ears:
chronic otitis media
hearing loss
abnormal semicircular canals

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
ventricular septal defect

Abdomen Gastrointestinal:
pyloric stenosis
esophageal atresia
ectopic anus

Respiratory Airways:
anomalous tracheal cartilage

Growth Height:
deceleration of linear growth during childhood

Head And Neck Teeth:
malocclusion
delayed dental eruption

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 Nails:
single nail common to digits 2 to 4

Clinical features from OMIM®:

101200 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Apert Syndrome according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.81 FGFR1 FGFR3
2 Decreased viability GR00221-A-2 9.81 FGFR1 FGFR3
3 Decreased viability GR00221-A-3 9.81 FGFR3
4 Decreased viability GR00249-S 9.81 EFNB1 FGF10 FGF2 FGF7 FGF9 FGFR2
5 Decreased viability GR00301-A 9.81 FGFR2
6 Decreased viability GR00342-S-1 9.81 FGFR2
7 Decreased viability GR00342-S-2 9.81 FGFR2
8 Decreased viability GR00342-S-3 9.81 FGFR2
9 Decreased viability GR00381-A-1 9.81 ARID1B
10 Decreased viability GR00386-A-1 9.81 EFNB1 FGF10 FGF2 FGF4 FGF7 FGFR1
11 Decreased viability GR00402-S-2 9.81 CFAP47 EFNB1 FGF6 RAB23 TWIST1

MGI Mouse Phenotypes related to Apert Syndrome:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.42 DCAF17 EFNB1 FERD3L FGF10 FGF2 FGF4
2 growth/size/body region MP:0005378 10.41 ARID1B EFNB1 FGF10 FGF4 FGF6 FGF7
3 craniofacial MP:0005382 10.35 ARID1B EFNB1 FGF10 FGF6 FGF9 FGFR1
4 embryo MP:0005380 10.33 EFNB1 FERD3L FGF10 FGF4 FGF9 FGFR1
5 mortality/aging MP:0010768 10.33 ARID1B EFNB1 FGF10 FGF2 FGF4 FGF9
6 cardiovascular system MP:0005385 10.32 ARID1B FGF10 FGF2 FGF9 FGFR1 FGFR2
7 integument MP:0010771 10.31 ARID1B EFNB1 FGF10 FGF6 FGF7 FGF9
8 limbs/digits/tail MP:0005371 10.29 EFNB1 FGF10 FGF4 FGF9 FGFR1 FGFR2
9 digestive/alimentary MP:0005381 10.26 EFNB1 FGF10 FGF9 FGFR1 FGFR2 FGFR3
10 hematopoietic system MP:0005397 10.25 ARID1B EFNB1 FGF10 FGF2 FGF7 FGF9
11 nervous system MP:0003631 10.25 ARID1B EFNB1 FERD3L FGF10 FGF2 FGF7
12 hearing/vestibular/ear MP:0005377 10.18 EFNB1 FGF10 FGF2 FGF9 FGFR1 FGFR2
13 muscle MP:0005369 10.17 ARID1B FGF10 FGF2 FGF6 FGF9 FGFR1
14 normal MP:0002873 10.07 FGF10 FGF4 FGF6 FGF9 FGFR1 FGFR2
15 reproductive system MP:0005389 10.07 DCAF17 EFNB1 FGF10 FGF2 FGF4 FGF6
16 renal/urinary system MP:0005367 9.92 ARID1B FGF10 FGF7 FGF9 FGFR1 FGFR2
17 skeleton MP:0005390 9.86 EFNB1 FGF10 FGF2 FGF4 FGF6 FGF7
18 respiratory system MP:0005388 9.76 EFNB1 FGF10 FGF4 FGF9 FGFR2 FGFR3
19 vision/eye MP:0005391 9.4 EFNB1 FGF10 FGF2 FGF7 FGF9 FGFR1

Drugs & Therapeutics for Apert Syndrome

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

(show top 50) (show all 125)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3
Ramipril Approved Phase 4 87333-19-5 5362129
4
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
5
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
6
Enalaprilat Approved Phase 4 76420-72-9 6917719
7
Captopril Approved Phase 4 62571-86-2 44093
8
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
9
Eplerenone Approved Phase 4 107724-20-9 150310 443872
10
Bisoprolol Approved Phase 4 66722-44-9 2405
11
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
12
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
13
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
14
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
15
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
16
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
17
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
18
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
19
Candesartan Experimental Phase 4 139481-59-7 2541
20 Immunoglobulin A Phase 4
21 glucocorticoids Phase 4
22 Antineoplastic Agents, Hormonal Phase 4
23 Alkylating Agents Phase 4
24 Angiotensin-Converting Enzyme Inhibitors Phase 4
25 HIV Protease Inhibitors Phase 4
26
protease inhibitors Phase 4
27 Angiotensin Receptor Antagonists Phase 4
28 Giapreza Phase 4
29 Angiotensinogen Phase 4
30 Angiotensin II Type 1 Receptor Blockers Phase 4
31 Antihypertensive Agents Phase 4
32 Adrenergic Antagonists Phase 4
33 Adrenergic beta-Antagonists Phase 4
34 Adrenergic Agents Phase 4
35 Mineralocorticoids Phase 4
36 Mineralocorticoid Receptor Antagonists Phase 4
37 Neurotransmitter Agents Phase 4
38
Icatibant Approved, Investigational Phase 3 130308-48-4, 138614-30-9 71364
39
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
40
Bradykinin Investigational Phase 3 58-82-2 439201
41 Antirheumatic Agents Phase 3
42 Immunosuppressive Agents Phase 3
43 Immunologic Factors Phase 3
44 Anti-Inflammatory Agents Phase 3
45 Complement System Proteins Phase 3
46 Kininogens Phase 3
47 Analgesics, Non-Narcotic Phase 3
48 Anti-Inflammatory Agents, Non-Steroidal Phase 3
49 Bradykinin Receptor Antagonists Phase 3
50 Vasodilator Agents Phase 3

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 A Prospective Randomized, Controlled, Open-labeled Trial of Prednisone Plus Cyclophosphamide in Patients With Advanced-stage IgA Nephropathy Unknown status NCT01758120 Phase 4 prednisone plus cyclophosphamide;Prednisone alone
2 Systematic Withdrawal of Neurohumoral Blocker Therapy in Optimally Responding Patients to Cardiac Resynchronization Therapy: the STOP-CRT Trial Completed NCT02200822 Phase 4 beta blockers;RAAS blockers
3 Irbesartan Versus Placebo in Combination With Standard Cardiovascular Protection ACE-I Therapy With Ramipril for the Treatment of Albuminuria in Hypertensive Subjects at Elevated Cardiovascular Risk Completed NCT00095290 Phase 4 Ramipril + Irbesartan;Ramipril + Placebo
4 ONTARGET ONgoing Telmisartan Alone and in Combination With Ramipril Global Endpoint Trial A Large, Simple Randomized Trial of an Angiotensin II Receptor Antagonist (Telmisartan) and an ACE-Inhibitor (Ramipril) in Patients at High Risk for Cardiovascular Events and TRANSCEND Telmisartan Randomized AssessmeNt Study in aCE iNtolerant Subjects With Cardiovascular Disease. A Parallel Study Comparing the Effects of Telmisartan With Placebo and Outcomes in Patients at High Risk for Cardiovascular Events and Intolerant to ACE-I. Completed NCT00153101 Phase 4 Telmisartan;Combination of Telmisartan and Ramipril;Ramipril
5 Phase III, Randomized, Double-Blind, Placebo-Controlled, Multicenter Clinical Study Evaluating the Safety & Efficacy of Icatibant as a Treatment for Angiotensin-Converting Enzyme Inhibitor (ACE-I)-Induced Angioedema in Adults Completed NCT01919801 Phase 3 Icatibant;Placebo
6 N-3 Polyunsaturated Fatty Acids (n-3 PUFAs) in the Prevention of Atrial Fibrillation Recurrences After Electrical Cardioversion. A Prospective Randomized Study. Completed NCT01198275 Phase 3 n-3 PUFAs;Placebo;RASS inhibitors and/or RAS blockers;Amiodarone
7 Prevention of Chemotherapy Induced Cardiotoxicity in Children With Bone Tumors and Acute Myeloid Leukemia Recruiting NCT03389724 Phase 3 Capoten®
8 Renal Protective Effect of ACEI and ARB in Primary Hyperoxaluria Withdrawn NCT00280215 Phase 3 ACEI / Angiotensin converting enzyme inhibitor;ARB /Angiotensin Receptor Blocker;Placebo
9 Effects of ACE Genotype on Muscular and Functional Adaptations Following a Cardiovascular Rehabilitation Program Unknown status NCT02845063 Phase 2
10 A Randomized, Placebo-controlled, Parallel-group Study to Evaluate the Effect of Green Tea on Albuminuria in Patients With Diabetic Nephropathy and Use of Maximum Dose of ACE-I and / or Angiotensin II Receptor Blocker. Completed NCT01923597 Phase 2 Green tea extract
11 A Randomised, Double-blind, Placebo-controlled Study to Evaluate the Effect on Urine Albumin-to-Creatinine Ratio (UACR), Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of Multiple Oral Doses of MT-3995 as Add-on Therapy to ACE-I or ARB in Type II Diabetic Nephropathy Subjects With Albuminuria and an eGFR ≥30-<60 mL/Min/1.73m^2 Completed NCT01756716 Phase 2 MT-3995 Low;MT-3995 High;Placebo
12 A Randomised, Double-blind, Placebo-controlled Study to Evaluate the Effect on Urine Albumin-to-Creatinine Ratio (UACR), Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of Multiple Oral Doses of MT-3995 as Add-on Therapy to ACE-I or ARB in Type II Diabetic Nephropathy Subjects With Albuminuria and an eGFR ≥60 mL/Min/1.73m^2 Completed NCT01756703 Phase 2 MT-3995 Low;MT-3995 High;Placebo
13 A Phase I Clinical Study to Examine the Safety of Continued Treatment With Trastuzumab for Individuals With Overt Left Ventricular Dysfunction Completed NCT02907021 Phase 1 standard-of-care treatments for LV impairment
14 A Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety, Tolerability and Hemodynamics of Ascending Repeated Oral Doses of SAR407899A in Patients With Moderate Chronic Kidney Disease on Stable Angiotensin Converting Enzyme-inhibitor (ACE-I) Treatment Completed NCT01485900 Phase 1 SAR407899A
15 A Safety, Tolerability, and Pharmacokinetic Study of Single and Multiple Ascending Doses of LY3322207 in Healthy Subjects and Subjects With Hypertension on ACE I/ARB Therapy Terminated NCT03590860 Phase 1 LY3322207;Placebo
16 The Role of Androgen Deprivation Therapy In Cardiovascular Disease - A Longitudinal Prostate Cancer Study (RADICAL PC1) & A RAndomizeD Intervention for Cardiovascular and Lifestyle Risk Factors in Prostate Cancer Patients (RADICAL PC2) Unknown status NCT03127631 Antiplatelet agent, such as Aspirin, or other low-dose antiplatelet agent;Statin, such as Simvastatin, Atorvastatin, Rosuvastatin, Pravastatin);ACE inhibitor
17 Efficient Treatments for ACE-I and ARB-induced Angioedema Exist and Should be Available to All Patients. Analysis of Their Availability and Influencing Factors in the Area Around Lyon, France Completed NCT02826356
18 Blood Pressure in Dialysis Patients (BID Study) Completed NCT01421771 Antihypertensive Agents
19 The Effect of Eplerenone and Atorvastatin on Markers of Collagen Turnover in Diastolic Heart Failure Completed NCT00505336 Eplerenone;Atorvastatin
20 Prognosis of SARS-Cov 2 Positive Patients Receiving Angiotensin Converting Enzyme Inhibitors (ACE-I) and Angiotensin II Receptor Antagonists (ARBs) Completed NCT04357535 Angiotensin-Converting Enzyme Inhibitors (ACE-I) and Angiotensin II Receptor Blockers (ARB)
21 Cough Among Hypertensive Patients Treated With Telmisartan, Who Had to Stop Previous ACE-i Treatment Due to Cough Completed NCT01217879 Telmisartan (Kinzal/Pritor, BAY68-9291)
22 COugh Among Hypertensive Patients Treated With Telmisartan, Who Had to Stop previoUs ACE-I Treatment Due to couGH Completed NCT01211171 Telmisartan (Kinzal/Pritor, BAY68-9291)
23 Nasopharyngeal Oxygen With Nose-close and Abdomen-compression in Pediatric Flexible Bronchoscopy Completed NCT01629186
24 Surgery of Subclinical Cortisol Secreting Adrenal Incidentalomas Recruiting NCT02364089 Standardized medical treatment of hypertension by SAHR
25 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
26 Effects of Angiotensin Converting Enzyme Inhibitors on Total Hip and Knee Arthroplasty Patients Terminated NCT01867047 ACE-I Cessation group;ACE-I Continuation group
27 Use of Bispectral Index (BIS) Monitoring of Anaesthesia With Propofol and Remifentanyl in Pediatric Patients in Ear Nose and Throat Surgery: Are There Clinical Advantages? Terminated NCT01043952 Propofol;Remifentanil

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:

40
Eye, Bone, Heart, Kidney, Skin, Brain, Spleen

Publications for Apert Syndrome

Articles related to Apert Syndrome:

(show top 50) (show all 762)
# Title Authors PMID Year
1
Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg). 57 61 54 6 25
16969861 2006
2
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. 6 57 25 54 61
16440883 2005
3
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. 54 61 6 25 57
9973282 1999
4
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. 25 57 6 54 61
8651276 1996
5
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 57 6 25 54 61
7719344 1995
6
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 61 57 6 25
9002682 1997
7
Clinical variability in patients with Apert's syndrome. 57 25 6
10067911 1999
8
Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. 57 54 61 25
10735635 2000
9
Exclusive paternal origin of new mutations in Apert syndrome. 57 25 54 61
8673103 1996
10
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. 61 54 25 57
7668257 1995
11
Ophthalmic findings in apert syndrome prior to craniofacial surgery. 61 25 57
16876521 2006
12
Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. 57 61 25
16691624 2006
13
The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. 57 25 61
12900791 2003
14
Birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome. 61 25 57
9375719 1997
15
Cutaneous manifestations of Apert syndrome. 57 61 25
7573165 1995
16
Esophageal stenosis in acrocephalosyndactyly type I. 61 25 57
7802047 1994
17
Visceral anomalies in the Apert syndrome. 61 57 25
8456856 1993
18
Cervical spine in the Apert syndrome. 25 57 61
1621762 1992
19
Birth prevalence study of the Apert syndrome. 61 57 25
1303629 1992
20
Apert syndrome with partial preaxial polydactyly. 61 57 25
1642807 1992
21
Apert syndrome. Classification and pathologic anatomy of limb anomalies. 61 25 57
2065493 1991
22
The central nervous system in the Apert syndrome. 57 25 61
2405668 1990
23
Apert syndrome with polysyndactyly of the feet. 57 61 25
2774006 1989
24
Recessive inheritance of apparent Apert syndrome with polysyndactyly? 57 61 25
2851938 1988
25
Apparent Apert syndrome with polydactyly: rare pleiotropic manifestation or new syndrome? 57 25 61
3674108 1987
26
Germinal mosaicism in Apert syndrome. 25 57 61
3742849 1986
27
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. 61 6 54
17525745 2007
28
Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. 61 54 6
11390973 2001
29
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. 61 6 54
11121055 2000
30
Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts. 6 54 61
10851026 2000
31
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. 61 54 6
9719378 1998
32
Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. 57 54 61
9502772 1998
33
Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. 57 25
7674004 1995
34
Intellectual development in Apert's syndrome: a long term follow up of 29 patients. 57 25
3351902 1988
35
Progressive synosteosis in Apert's syndrome (acrocephalosyndactyly), with a description of roentgenographic changes in the feet. 25 57
5938051 1966
36
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 6 61
26380986 2015
37
A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation. 61 6
24489893 2014
38
Postnatal brain and skull growth in an Apert syndrome mouse model. 57 61
23495236 2013
39
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients. 6 61
23546041 2013
40
Anti-acne agents attenuate FGFR2 signal transduction in acne. 54 25 61
19225542 2009
41
The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect. 25 61 54
19593369 2009
42
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. 25 61 54
18726952 2009
43
Oral findings in patients with Apert syndrome. 25 54 61
19089249 2006
44
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. 61 6
15975938 2005
45
A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis. 61 6
14499350 2003
46
Prenatal diagnosis of Apert syndrome. 57 61
9664610 1998
47
Hands and feet in the Apert syndrome. 61 57
7645606 1995
48
Birth prevalence study of the Apert syndrome. 57 61
8434630 1993
49
Male transmission of Apert syndrome. 61 57
3359672 1988
50
Prenatal fetoscopic diagnosis of the Apert syndrome. 61 57
7065003 1982

Variations for Apert Syndrome

ClinVar genetic disease variations for Apert Syndrome:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) SNV Pathogenic 478046 rs1554927408 GRCh37: 10:123274768-123274768
GRCh38: 10:121515254-121515254
2 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic 13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
3 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic 13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
4 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic 13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
5 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) SNV Pathogenic 13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
6 FGFR2 NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) SNV Pathogenic 449024 rs1434545235 GRCh37: 10:123325014-123325014
GRCh38: 10:121565500-121565500
7 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Pathogenic 13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
8 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic 13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
9 FGFR2 NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe) Indel Pathogenic 55867 rs387907372 GRCh37: 10:123279674-123279676
GRCh38: 10:121520160-121520162
10 FGFR2 FGFR2, ALU INS Insertion Pathogenic 13287 GRCh37:
GRCh38:
11 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Pathogenic 13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
12 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Likely pathogenic 13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
13 FGFR2 NM_022970.3(FGFR2):c.1087+1366A>G SNV Likely pathogenic 13299 rs879253721 GRCh37: 10:123276830-123276830
GRCh38: 10:121517316-121517316
14 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) SNV Likely pathogenic 374817 rs1057519044 GRCh37: 10:123276904-123276904
GRCh38: 10:121517390-121517390
15 FGFR2 NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) Indel Likely pathogenic 13279 rs121918498 GRCh37: 10:123279676-123279677
GRCh38: 10:121520162-121520163
16 FGFR2 NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu) SNV Uncertain significance 829801 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
17 FGFR2 NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) SNV Uncertain significance 577711 rs199757302 GRCh37: 10:123276928-123276928
GRCh38: 10:121517414-121517414
18 FGFR2 NM_000141.5(FGFR2):c.*736dup Duplication Uncertain significance 298984 rs886046762 GRCh37: 10:123238634-123238635
GRCh38: 10:121479120-121479121
19 FGFR2 NM_022970.3(FGFR2):c.110-22TC[3] Microsatellite Uncertain significance 299010 rs773932794 GRCh37: 10:123325233-123325234
GRCh38: 10:121565719-121565720
20 FGFR2 NM_000141.5(FGFR2):c.-298_-297dup Duplication Likely benign 299020 rs41301549 GRCh37: 10:123357621-123357622
GRCh38: 10:121598107-121598108
21 FGFR2 NM_000141.5(FGFR2):c.*1498_*1502del Deletion Likely benign 298974 rs566259479 GRCh37: 10:123237869-123237873
GRCh38: 10:121478355-121478359
22 FGFR2 NM_000141.5(FGFR2):c.*641_*644del Deletion Likely benign 298986 rs548465887 GRCh37: 10:123238727-123238730
GRCh38: 10:121479213-121479216
23 FGFR2 NM_000141.5(FGFR2):c.*197del Deletion Likely benign 298992 rs748777325 GRCh37: 10:123239174-123239174
GRCh38: 10:121479660-121479660

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

72
# 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

Copy number variations for Apert Syndrome from CNVD:

7
# CNVD ID Chromosome 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 53)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
2
Show member pathways
13.73 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
3
Show member pathways
13.58 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
4
Show member pathways
13.58 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
5
Show member pathways
13.57 FGFR3 FGFR2 FGFR1 FGF7 FGF6 FGF4
6
Show member pathways
13.5 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
7
Show member pathways
13.46 TWIST1 FGFR3 FGFR2 FGFR1 FGF9 FGF7
8
Show member pathways
13.44 FGFR3 FGFR2 FGFR1 FGF7 FGF6 FGF4
9
Show member pathways
13.37 FGFR3 FGFR2 FGFR1 FGF7 FGF6 FGF4
10
Show member pathways
13.35 FGFR3 FGFR2 FGFR1 FGF7 FGF6 FGF4
11
Show member pathways
13.33 FGFR3 FGFR2 FGFR1 FGF7 FGF6 FGF4
12
Show member pathways
13.22 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
13
Show member pathways
13.16 FGFR3 FGFR2 FGFR1 FGF7 FGF6 FGF4
14
Show member pathways
13.14 FGFR3 FGFR2 FGFR1 FGF7 FGF6 FGF4
15
Show member pathways
13.09 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
16
Show member pathways
12.96 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
17 12.88 GLI3 FGFR3 FGFR2 FGFR1 FGF9 FGF7
18 12.86 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
19
Show member pathways
12.84 FGFR2 FGFR1 FGF9 FGF7 FGF6 FGF4
20
Show member pathways
12.82 FGFR3 FGFR2 FGFR1 FGF7 FGF6 FGF4
21
Show member pathways
12.81 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
22
Show member pathways
12.8 FGFR2 FGFR1 FGF9 FGF7 FGF6 FGF4
23
Show member pathways
12.79 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
24 12.7 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
25
Show member pathways
12.61 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
26
Show member pathways
12.51 FGFR3 FGFR2 FGFR1 FGF7 FGF6 FGF4
27
Show member pathways
12.46 TBX5 FGFR2 FGF4 FGF2
28
Show member pathways
12.44 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
29
Show member pathways
12.42 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
30
Show member pathways
12.38 FGFR3 FGFR2 FGFR1 FGF7 FGF6 FGF4
31
Show member pathways
12.36 FGFR3 FGFR2 FGFR1 FGF2
32 12.36 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
33
Show member pathways
12.32 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
34 12.23 FGFR3 FGFR2 FGFR1 FGF2 EFNB1
35 12.18 TBX5 FGF7 FGF4 FGF2 FGF10
36 12.15 FGFR3 FGFR2 FGFR1 FGF2
37
Show member pathways
12.1 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
38 12.07 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF2
39 12.01 TBX5 RUNX2 MSX2 FGF4 FGF2 FGF10
40
Show member pathways
11.99 FGFR1 FGF9 FGF6 FGF4 FGF2
41 11.98 FGFR3 FGFR2 FGFR1 FGF2 EFNB1
42 11.92 FGFR3 FGFR1 FGF4 FGF2 FGF10
43 11.84 FGFR3 FGFR2 FGFR1 FGF7 FGF6 FGF4
44 11.83 RUNX2 GLI3 FGFR3 FGFR1 FGF2
45 11.73 FGFR3 FGFR2 FGFR1
46
Show member pathways
11.73 FGFR3 FGF9 FGF4 FGF2
47 11.56 FGF4 FGF2 FGF10
48 11.55 RUNX2 FGFR2 FGFR1
49 11.52 FGFR3 FGFR2 FGFR1
50
Show member pathways
11.48 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6

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 9.81 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
2 nucleus GO:0005634 9.8 TWIST1 TBX5 RUNX2 MSX2 GLI3 FGFR3
3 cytoplasm GO:0005737 9.5 TBX5 RUNX2 RAB23 GLI3 FGFR3 FGFR2

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

(show top 50) (show all 66)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.22 TWIST1 TBX5 RUNX2 GLI3 FGFR2 FGF4
2 cell differentiation GO:0030154 10.21 TWIST1 RUNX2 FGF9 FGF7 FGF6 FGF4
3 multicellular organism development GO:0007275 10.18 TWIST1 TBX5 RAB23 MSX2 FGFR3 FGFR2
4 positive regulation of transcription, DNA-templated GO:0045893 10.16 TBX5 RUNX2 GLI3 FGF7 FGF2 FGF10
5 negative regulation of transcription, DNA-templated GO:0045892 10.13 FERD3L GLI3 MSX2 RUNX2 TWIST1
6 positive regulation of gene expression GO:0010628 10.13 TWIST1 RUNX2 FGF9 FGF7 FGF6 FGF4
7 positive regulation of cell proliferation GO:0008284 10.07 RUNX2 FGFR3 FGFR2 FGFR1 FGF9 FGF7
8 cell-cell signaling GO:0007267 10.04 TBX5 FGFR3 FGFR2 FGF9 FGF4 FGF10
9 angiogenesis GO:0001525 10.02 FGFR2 FGF6 FGF2 FGF10
10 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.01 FGFR3 FGFR2 FGF4 FGF2 FGF10
11 positive regulation of protein phosphorylation GO:0001934 10.01 FGF9 FGF7 FGF6 FGF4 FGF2 FGF10
12 animal organ morphogenesis GO:0009887 10 FGFR2 FGF9 FGF7 FGF6 FGF4 FGF2
13 positive regulation of MAPK cascade GO:0043410 9.99 FGFR3 FGFR2 FGFR1 FGF9 FGF2 FGF10
14 wound healing GO:0042060 9.95 GLI3 FGFR2 FGF2 FGF10
15 regulation of cell migration GO:0030334 9.95 FGF9 FGF7 FGF6 FGF4 FGF2 FGF10
16 ossification GO:0001503 9.91 TWIST1 RUNX2 MSX2
17 osteoblast differentiation GO:0001649 9.91 TWIST1 RUNX2 MSX2
18 positive regulation of epithelial cell proliferation GO:0050679 9.91 TWIST1 FGFR2 FGF9 FGF7 FGF2 FGF10
19 positive regulation of kinase activity GO:0033674 9.89 FGFR3 FGFR2 FGFR1
20 odontogenesis of dentin-containing tooth GO:0042475 9.89 RUNX2 GLI3 FGF4 FGF10
21 negative regulation of cell differentiation GO:0045596 9.88 TWIST1 GLI3 FGF10
22 regulation of cell differentiation GO:0045595 9.88 RUNX2 GLI3 FGFR1
23 embryonic limb morphogenesis GO:0030326 9.88 TWIST1 TBX5 GLI3 FGF4
24 positive chemotaxis GO:0050918 9.86 FGF7 FGF2 FGF10
25 skeletal system morphogenesis GO:0048705 9.86 RUNX2 FGFR2 FGFR1
26 positive regulation of cardiac muscle cell proliferation GO:0060045 9.85 TBX5 FGFR2 FGF2
27 embryonic cranial skeleton morphogenesis GO:0048701 9.84 TWIST1 RUNX2 FGFR2
28 embryonic forelimb morphogenesis GO:0035115 9.84 TWIST1 TBX5 RUNX2
29 hair follicle morphogenesis GO:0031069 9.83 FGFR2 FGF7 FGF10
30 embryonic pattern specification GO:0009880 9.83 FGFR2 FGF10 EFNB1
31 MAPK cascade GO:0000165 9.81 FGFR3 FGFR2 FGFR1 FGF9 FGF7 FGF6
32 positive regulation of cell division GO:0051781 9.8 FGFR2 FGF9 FGF7 FGF6 FGF4 FGF2
33 lung development GO:0030324 9.8 TBX5 GLI3 FGFR2 FGF9 FGF7 FGF2
34 embryonic morphogenesis GO:0048598 9.78 MSX2 GLI3 FGF2
35 embryonic digestive tract morphogenesis GO:0048557 9.77 GLI3 FGFR2 FGF10
36 branching involved in salivary gland morphogenesis GO:0060445 9.76 FGFR2 FGF7 FGF10
37 positive regulation of chondrocyte differentiation GO:0032332 9.74 RUNX2 GLI3
38 embryonic digestive tract development GO:0048566 9.74 GLI3 FGF10
39 positive regulation of phospholipase activity GO:0010518 9.74 FGFR3 FGFR2 FGFR1
40 regulation of osteoblast differentiation GO:0045667 9.73 RUNX2 FGFR2
41 positive regulation of keratinocyte proliferation GO:0010838 9.73 FGF7 FGF10
42 positive regulation of phospholipase C activity GO:0010863 9.73 FGFR1 FGF2
43 positive regulation of keratinocyte migration GO:0051549 9.72 FGF7 FGF10
44 limb bud formation GO:0060174 9.72 FGFR2 FGF10
45 organ growth GO:0035265 9.72 FGFR2 FGF10
46 cranial suture morphogenesis GO:0060363 9.72 TWIST1 MSX2 FGF4
47 endochondral bone growth GO:0003416 9.71 FGFR3 FGFR2
48 bud elongation involved in lung branching GO:0060449 9.71 FGFR2 FGF10
49 epidermis morphogenesis GO:0048730 9.71 FGFR2 FGF10
50 lacrimal gland development GO:0032808 9.71 FGFR2 FGF10

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.85 TWIST1 TBX5 MSX2 GLI3 FERD3L
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.65 FGFR3 FGFR2 FGFR1
3 growth factor activity GO:0008083 9.63 FGF9 FGF7 FGF6 FGF4 FGF2 FGF10
4 chemoattractant activity GO:0042056 9.54 FGF7 FGF2 FGF10
5 fibroblast growth factor binding GO:0017134 9.5 FGFR3 FGFR2 FGFR1
6 heparin binding GO:0008201 9.5 FGFR2 FGFR1 FGF9 FGF7 FGF4 FGF2
7 type 2 fibroblast growth factor receptor binding GO:0005111 9.43 FGF7 FGF10
8 fibroblast growth factor-activated receptor activity GO:0005007 9.43 FGFR3 FGFR2 FGFR1
9 receptor-receptor interaction GO:0090722 9.4 FGFR1 FGF2
10 fibroblast growth factor receptor binding GO:0005104 9.1 FGF9 FGF7 FGF6 FGF4 FGF2 FGF10

Sources for Apert Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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