MCID: APR006
MIFTS: 66

Apert Syndrome malady

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

Aliases & Classifications for Apert Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 32ICD9CM, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Apert Syndrome:

Name: Apert Syndrome 52 11 71 48 24 25 54 70 12 50
Acrocephalosyndactyly Type 1 24 54 70 27
Acrocephalosyndactylia 11 39 13
Acs1 24 54 70
Apert-Crouzon Disease 48 68
Vogt Cephalodactyly 24 68
Acrocephalo-Syndactyly Type 1 48
 
Syndactylic Oxycephaly 48
Acrocephalosyndactyly 25
Acrocephaly 71
Acs Ii 24
Acs I 70
Acs 1 48
Aprs 70

Characteristics:

Orphanet epidemiological data:

54
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

HPO:

64
apert syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 101200
Disease Ontology11 DOID:12960
ICD9CM32 755.55
MeSH39 D000168
NCIt45 C34348
Orphanet54 ORPHA87
MESH via Orphanet40 D000168
UMLS via Orphanet69 C0001193
ICD10 via Orphanet31 Q87.0

Summaries for Apert Syndrome

About this section
NIH Rare Diseases:48 Apert syndrome is characterized by fusion of the skull bones that occurs 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. Individuals affected by Apert syndrome may also experience mild to moderate intellectual disability.  Apert syndrome is caused by a change (mutation) in the FGFR2 gene. Apert syndrome is inherited in an autosomal dominant manner, but many cases result from a new mutation in an individual with no family history of the disorder (de novo mutation). Diagnosis of Apert syndrome is based on a clinical examination and can be confirmed by genetic testing. Treatment options depend on the symptoms of each individual but may include surgery to separate the skull bones and relieve the pressure on the brain. The long-term outlook for a person affected with Apert syndrome can be improved with prompt diagnosis and medical attention.   Last updated: 7/1/2011

MalaCards based summary: Apert Syndrome, also known as acrocephalosyndactyly type 1, is related to pfeiffer syndrome and maroteaux fonfria syndrome, and has symptoms including malar flattening, conductive hearing impairment and proptosis. An important gene associated with Apert Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways are Angiogenesis (WikiPathways) and Glypican 1 network. Affiliated tissues include bone, brain and testes, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Disease Ontology:11 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:52 Apert syndrome is a congenital disorder characterized primarily by craniosynostosis, midface hypoplasia, and syndactyly... (101200) more...

UniProtKB/Swiss-Prot:70 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:71 Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations... more...

Related Diseases for Apert Syndrome

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

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1pfeiffer syndrome11.4
2maroteaux fonfria syndrome10.9
3saethre-chotzen syndrome10.8
4greig cephalopolysyndactyly syndrome10.8
5carpenter syndrome10.8
6sakati-nyhan syndrome10.8
7goiter, multinodular 1, with or without sertoli-leydig cell tumors10.3FGF10, FGF9
8mite infestation10.3FGFR2, FGFR3
9pfn1-related amyotrophic lateral sclerosis10.3FGFR1, FGFR2
10accommodative esotropia10.2FGFR2, FGFR3
11uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis10.2FGFR1, FGFR2
12crouzon syndrome with acanthosis nigricans10.2FGFR2, FGFR3
13peritoneum cancer10.2FGF10, FGF7, FGFR2
14glaucomatocyclitic crisis10.1FGFR2, FGFR3
15scleredema adultorum10.0FGFR2, FGFR3
16nail disorder, nonsyndromic congenital, 110.0FGF2, FGFR1
17craniosynostosis10.0
18cervical cancer, somatic9.9FGF2, FGFR2, FGFR3
19flnb-related disorders9.9FGFR1, FGFR2, FGFR3
20trigonocephaly 19.9FGFR1, FGFR2, FGFR3
21hypogonadotropic hypogonadism 2 with or without anosmia9.9FGFR1, FGFR2, FGFR3
22thanatophoric dysplasia, type i9.9FGFR1, FGFR2, FGFR3
23crouzon syndrome9.9
24hypochondroplasia9.9FGFR1, FGFR2, FGFR3
25staphylococcal scarlet fever9.9FGFR3, TWIST1
26acne9.8
27omphalocele9.8
28polydactyly9.8
29synostosis9.8
30polyhydramnios9.8
31serous conjunctivitis except viral9.8FGFR2, FGFR3, GLI3
32colorectal cancer9.8
33prostate cancer9.8
34prostatitis9.8
35odontoma9.8
36endotheliitis9.8
37beare-stevenson cutis gyrata syndrome9.7FGF2, FGFR1, FGFR2, FGFR3
38gastroesophageal reflux9.6
39sleep apnea9.6
40obstructive sleep apnea9.6
41humeroradial synostosis9.6
42cervicitis9.6
43papillary carcinoma9.6
44congenital diaphragmatic hernia9.6
45strabismus9.6
46encephalocele9.6
47osteopetrosis and infantile neuroaxonal dystrophy9.6FGF2, FGF9, FGFR1, FGFR3
48grade iii astrocytoma9.6FGFR1, FGFR3
49coronary artery disease9.5
50artery disease9.5

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



Diseases related to apert syndrome

Symptoms & Phenotypes for Apert Syndrome

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Symptoms by clinical synopsis from OMIM:

101200

Clinical features from OMIM:

101200

Human phenotypes related to Apert Syndrome:

 64 54 (show all 83)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening64 hallmark (90%) HP:0000272
2 conductive hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000405
3 proptosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000520
4 toe syndactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001770
5 frontal bossing64 54 hallmark (90%) Very frequent (99-80%) HP:0002007
6 depressed nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0005280
7 abnormality of the fontanelles or cranial sutures64 typical (50%) HP:0000235
8 mandibular prognathia64 54 typical (50%) Frequent (79-30%) HP:0000303
9 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
10 facial asymmetry64 54 typical (50%) Frequent (79-30%) HP:0000324
11 convex nasal ridge64 54 typical (50%) Frequent (79-30%) HP:0000444
12 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
13 downslanted palpebral fissures64 54 typical (50%) Frequent (79-30%) HP:0000494
14 delayed eruption of teeth64 54 typical (50%) Frequent (79-30%) HP:0000684
15 hypertension64 54 typical (50%) Frequent (79-30%) HP:0000822
16 vertebral segmentation defect64 54 typical (50%) Frequent (79-30%) HP:0003422
17 aplasia/hypoplasia of the corpus callosum64 typical (50%) HP:0007370
18 aplasia/hypoplasia of the thumb64 54 typical (50%) Frequent (79-30%) HP:0009601
19 cognitive impairment64 typical (50%) HP:0100543
20 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
21 hydrocephalus64 54 occasional (7.5%) Occasional (29-5%) HP:0000238
22 sensorineural hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000407
23 choanal atresia64 54 occasional (7.5%) Occasional (29-5%) HP:0000453
24 visual impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000505
25 optic atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0000648
26 respiratory insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0002093
27 ventriculomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0002119
28 arnold-chiari malformation64 54 occasional (7.5%) Occasional (29-5%) HP:0002308
29 cloverleaf skull64 54 occasional (7.5%) Occasional (29-5%) HP:0002676
30 ectopic anus64 54 occasional (7.5%) Occasional (29-5%) HP:0004397
31 limb undergrowth64 occasional (7.5%) HP:0009826
32 ovarian neoplasm64 54 occasional (7.5%) Occasional (29-5%) HP:0100615
33 corneal erosion64 54 occasional (7.5%) Occasional (29-5%) HP:0200020
34 cryptorchidism64 HP:0000028
35 hydronephrosis64 HP:0000126
36 vaginal atresia64 HP:0000148
37 narrow palate64 54 Frequent (79-30%) HP:0000189
38 bifid uvula64 54 Occasional (29-5%) HP:0000193
39 large fontanelles64 54 Frequent (79-30%) HP:0000239
40 brachyturricephaly64 54 Very frequent (99-80%) HP:0000244
41 delayed cranial suture closure64 HP:0000270
42 broad forehead64 54 Very frequent (99-80%) HP:0000337
43 high forehead64 HP:0000348
44 hearing impairment64 HP:0000365
45 chronic otitis media64 HP:0000389
46 choanal stenosis64 HP:0000452
47 shallow orbits64 HP:0000586
48 dental malocclusion64 HP:0000689
49 acne64 HP:0001061
50 postaxial hand polydactyly64 HP:0001162
51 preaxial hand polydactyly64 HP:0001177
52 intellectual disability64 54 Frequent (79-30%) HP:0001249
53 agenesis of corpus callosum64 54 Frequent (79-30%) HP:0001274
54 absent septum pellucidum64 54 Frequent (79-30%) HP:0001331
55 megalencephaly64 HP:0001355
56 growth abnormality64 HP:0001507
57 ventricular septal defect64 HP:0001629
58 pyloric stenosis64 HP:0002021
59 esophageal atresia64 54 Occasional (29-5%) HP:0002032
60 overriding aorta64 HP:0002623
61 humeroradial synostosis64 HP:0003041
62 coronal craniosynostosis64 HP:0004440
63 anomalous tracheal cartilage64 HP:0004468
64 acrobrachycephaly64 54 Very frequent (99-80%) HP:0004487
65 cervical c5/c6 vertebrae fusion64 HP:0004635
66 synostosis of carpal bones64 HP:0005048
67 arnold-chiari type i malformation64 HP:0007099
68 posterior fossa cyst64 HP:0007291
69 limbic malformations64 HP:0007343
70 broad distal hallux64 HP:0008111
71 broad distal phalanx of the thumb64 HP:0009642
72 cutaneous finger syndactyly64 HP:0010554
73 midface retrusion64 54 Frequent (79-30%) HP:0011800
74 flat face64 54 Very frequent (99-80%) HP:0012368
75 arachnoid cyst64 HP:0100702
76 hypoplasia of the maxilla54 Very frequent (99-80%)
77 malformation of the heart and great vessels54 Occasional (29-5%)
78 micromelia54 Occasional (29-5%)
79 cervical vertebrae fusion (c5/c6)54 Frequent (79-30%)
80 finger syndactyly54 Very frequent (99-80%)
81 feeding difficulties in infancy54 Frequent (79-30%)
82 broad thumb54 Frequent (79-30%)
83 morphological abnormality of the semicircular canal54 Frequent (79-30%)

MGI Mouse Phenotypes related to Apert Syndrome according to GeneCards Suite gene sharing:

41 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5FGF10, FGF2, FGF9, FGFR1, FGFR2, FGFR3
2MP:00053678.2FGF10, FGF7, FGFR1, FGFR2, FGFR3, GLI3
3MP:00028738.2FGF10, FGF9, FGFR1, FGFR2, FGFR3, TBX5
4MP:00053827.9FGF10, FGF9, FGFR1, FGFR2, FGFR3, GLI3
5MP:00053897.8FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
6MP:00053697.7FGF10, FGF2, FGF9, FGFR1, FGFR2, TBX5
7MP:00053917.7FGF10, FGF2, FGF9, FGFR1, FGFR2, FGFR3
8MP:00053847.6FGF10, FGF2, FGF9, FGFR1, FGFR2, FGFR3
9MP:00107717.5FGF10, FGF7, FGF9, FGFR1, FGFR2, FGFR3
10MP:00053867.5FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
11MP:00053807.5FGF10, FGFR1, FGFR2, GLI3, RAB23, TBX5
12MP:00053817.3FGF10, FGF9, FGFR1, FGFR2, FGFR3, GLI3
13MP:00053786.9FGF10, FGF9, FGFR1, FGFR2, FGFR3, GLI3
14MP:00036316.8FGF10, FGF2, FGF7, FGFR1, FGFR2, FGFR3
15MP:00053856.7FGF10, FGF2, FGF9, FGFR1, FGFR2, GLI3
16MP:00053766.6FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
17MP:00053716.6FGF10, FGF9, FGFR1, FGFR2, FGFR3, GLI3
18MP:00053906.3FGF10, FGF2, FGF9, FGFR1, FGFR2, FGFR3
19MP:00107686.1FGF10, FGF2, FGF9, FGFR1, FGFR2, FGFR3

Drugs & Therapeutics for Apert Syndrome

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

(show all 36)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
TiclopidineapprovedPhase 3, Phase 245755142-85-35472
Synonyms:
5-((2-Chlorophenyl)methyl)-4,5,6,7-tetrahydrothieno(3,2-c)pyridine
5-(2-Chlorobenzyl)-4,5,6,7-tetrahydrothieno[3,2-c]pyridine
5-[(2-chlorophenyl)methyl]-4,5,6,7-tetrahydrothieno[3,2-c]pyridine
5-[(2-chlorophenyl)methyl]-6,7-dihydro-4H-thieno[3,2-c]pyridine
55142-85-3
AC-15204
AC1L1KFB
BIDD:PXR0169
BPBio1_000191
BRD-K00603606-003-03-4
BRN 1216802
BSPBio_000173
C07140
C14H14ClNS
CAS-53885-35-1
CHEBI:9588
CHEMBL833
CID5472
D08594
DB00208
EINECS 259-498-5
HMS2089I18
L001108
LS-152434
MLS001201825
MolPort-002-507-849
 
NCGC00016872-01
NCGC00016872-02
NCGC00024361-04
PCR 5332
Prestwick0_000047
Prestwick1_000047
Prestwick2_000047
Prestwick3_000047
SMR000641861
SPBio_002094
STK589340
STOCK5S-54105
Ticlid
Ticlopidin-Puren
Ticlopidin-Puren (TN)
Ticlopidina
Ticlopidina [INN-Spanish]
Ticlopidine (INN)
Ticlopidine HCL
Ticlopidine Hydrochloride
Ticlopidine [INN:BAN]
Ticlopidinum
Ticlopidinum [INN-Latin]
UNII-OM90ZUW7M1
UNM-0000345023
ZINC19594599
ticlopidine
2
TicagrelorapprovedPhase 3, Phase 2300274693-27-59871419
Synonyms:
(1S,2S,3R,5S)-3-(7-((1R,2S)-2-(3,4-Difluorophenyl)cyclopropylamino)-5-(propylthio)-3H-(1,2,3)triazolo(4,5-D)pyrimidin-3-yl)-5-(2-hydroxyethoxy)cyclopentane-1,2-diol
AZD 6140
 
AZD-6140
AZD6140
Brilinta
3
Clopidogrelapproved, nutraceuticalPhase 3, Phase 2756120202-66-6, 113665-84-260606
Synonyms:
( )-(S)-Clopidogrel
(+)-(S)-Clopidogrel
(+)-Clopidogrel
(S)-Clopidogrel
(S)-Methyl 2-(2-chlorophenyl)-2-(6,7-dihydrothieno[3,2-c]pyridin-5(4H)-yl)acetate
113665-84-2
AC-19024
AC1L1TKZ
AC1Q41I9
BIDD:GT0284
BRD-K27721098-065-02-9
BSPBio_003211
C16H16ClNO2S
CGE
CHEBI:37941
CHEMBL1771
CID60606
CLOPIDOGREL SULFATE
CPD000550475
Clopidogrel
Clopidogrel (INN)
Clopidogrel (TN)
Clopidogrel [BAN:INN]
Clopidogrel [Ban:Inn]
Clopidogrel [INN:BAN]
Clopidogrel bisulfate
Clopidogrel bisulphate
Clopidogrel sulfate
Clopidogrelum
D07729
DB00758
DivK1c_000787
HMS2090O21
HMS502H09
HSDB 7430
IDI1_000787
 
Isocover
KBio1_000787
KBio2_000545
KBio2_003113
KBio2_005681
KBio3_002431
KBioGR_000689
KBioSS_000545
LS-172232
MLS001165708
MLS001195633
MLS001304711
Methyl (+)-(S)-alpha-(o-chlorophenyl)-6,7-dihydrothieno(3,2-c)pyridine-5(4H)-acetate
MolPort-002-885-817
MolPort-003-845-991
NCGC00163329-02
NINDS_000787
Plavix
Plavix (TN)
SAM002589956
SMR000550475
SPBio_000463
SR 25990
STK580572
STOCK5S-27782
Spectrum2_000512
Spectrum3_001606
Spectrum4_000175
Spectrum_000105
TL8000400
UNII-A74586SNO7
Zyllt
clopidogrel
clopidogrel, (+)(S)-isomer
methyl (2S)-(2-chlorophenyl)(6,7-dihydrothieno[3,2-c]pyridin-5(4H)-yl)ethanoate
methyl (2S)-2-(2-chlorophenyl)-2-(6,7-dihydro-4H-thieno[3,2-c]pyridin-5-yl)acetate
nchem.651-comp8
4Fibrinolytic AgentsPhase 3, Phase 22317
5Purinergic P2Y Receptor AntagonistsPhase 3, Phase 2767
6Cytochrome P-450 Enzyme InhibitorsPhase 3, Phase 23822
7Purinergic P2 Receptor AntagonistsPhase 3, Phase 2769
8Neurotransmitter AgentsPhase 3, Phase 217734
9Platelet Aggregation InhibitorsPhase 3, Phase 22419
10
Heparinapproved, investigationalPhase 28129005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Unfractionated heparin
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
11
Eptifibatideapproved, investigationalPhase 230188627-80-7123610
Synonyms:
148031-34-9
157630-07-4
188627-80-7
2-[(3S,6S,12S,20R,23S)-20-carbamoyl-12-[4-(diaminomethylideneamino)butyl]-3-(1H-indol-3-ylmethyl)-2,5,8,11,14,22-hexaoxo-17,18-dithia-1,4,7,10,13,21-hexazabicyclo[21.3.0]hexacosan-6-yl]acetic acid
2-[20-carbamoyl-12-[4-(diaminomethylideneamino)butyl]-3-(1H-indol-3-ylmethyl)-2,5,8,11,14,22-hexaoxo-17,18-dithia-1,4,7,10,13,21-hexazabicyclo[21.3.0]hexacosan-6-yl]acetic acid
AC1L3WYY
AC1L9MDI
BIDD:GT0422
C35H49N11O9S2
C68-22
CHEBI:291902
CHEMBL1174
CID123610
CID448812
Eptifibatide
FT-0082227
 
HS-2011
I06-0351
Integrelin
Integrilin
Intrifiban
L-Cysteinamide, N6-(aminoiminomethyl)-N2-(3-mercapto-1-oxopropyl)-L-lysylglycyl-L-alpha-aspartyl-L-tryptophy-L-prolyl-, cyclic (1-6)-disulfide
L-Cysteinamide,N6-(aminoiminomethyl)-N2-(3-mercapto-1-oxopropyl)-L-lysylglycyl-L-alpha-aspartyl-L-tryptophy-L-propyl-,cyclic (1-6)-disulfide
LS-173318
LS-182837
N(6)-amidino-N(2)-(3-mercaptopropionyl)-L-lysylglycyl-L-alpha-aspartyl-L-tryptophyl-L-prolyl-L-cysteinamide, cyclic(1-6)-disulfide
N(sup 6)-Amidino-N(sup 2)-(3-mercaptopropionyl)-L-lysylglycyl-L-alpha-aspartyl-L-tryptophyl-L-prolyl-L-cysteinamide, cyclic(1-6)-disulfide
NCGC00167505-01
S(1),S(6)-cyclo[N(6)-carbamimidoyl-N(2)-(3-sulfanylpropanoyl)-L-lysylglycyl-L-alpha-aspartyl-L-tryptophyl-L-prolyl-L-cysteinamide]
SB-1
Sch-60936
UNII-NA8320J834
[(3R,11S,17S,20S,25aS)-11-(4-carbamimidamidobutyl)-3-carbamoyl-20-(1H-indol-3-ylmethyl)-1,9,12,15,18,21-hexaoxodocosahydro-7H-pyrrolo[2,1-g][1,2,5,8,11,14,17,20]dithiahexaazacyclotricosin-17-yl]acetic acid
nchembio829-comp11
12
Aspirinapproved, vet_approvedPhase 2111250-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(ACETYLOXY)benzoic acid
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide 2-(acetyloxy)benzoique
Acide acetylsalicylique
Acide acétylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Aloxiprimum
Asacard
Asagran
Asatard
Ascoden-30
Aspalon
Aspec
Aspergum
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin [BAN:JAN]
Aspirina 03
Aspirine
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Aspirin 8 Hour
Bayer Buffered
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Plus
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Bufferin
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Cemirit
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ecolen
Ecotrin
Empirin
Empirin with Codeine
Endosprin
Endydol
 
Entericin
Enterophen
Enterosarein
Enterosarine
Entrophen
Extren
Globentyl
Globoid
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Helicon
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Levius
Lopac-A-5376
Lopac0_000038
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medisyl
Micristin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Persistin
Pharmacin
Pirseal
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
Supac
Tasprin
Temperal
Toldex
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
ácido acetilsalicílico
13
RivaroxabanapprovedPhase 2244366789-02-8
Synonyms:
BAY 59-7939
 
BAY59-7939
Xarelto
14Serine Proteinase InhibitorsPhase 2850
15
OtamixabanPhase 25193153-04-7
Synonyms:
193153-04-7
1ksn
2-(3-Carbamimidoylbenzyl)-3-(4-(1-oxypyridin-4-yl)benzoylamino)butyric acid methyl ester
AC1NUYXM
 
CHEBI:167105
CHEMBL46618
CID5496659
Methyl 2-[(3-carbamimidoylphenyl)methyl]-3-[[4-(1-oxidopyridin-4-yl)benzoyl]amino]butanoate
Otamixaban
methyl (2R,3R)-2-[(3-carbamimidoylphenyl)methyl]-3-[[4-(1-oxidopyridin-1-ium-4-yl)benzoyl]amino]butanoate
16
protease inhibitorsPhase 25320
Synonyms:
 
protease inhibitors
17HIV Protease InhibitorsPhase 25319
18Factor Xa InhibitorsPhase 2391
19Antithrombin IIIPhase 2665
20AnticoagulantsPhase 22516
21AntithrombinsPhase 2672
22Calcium, DietaryPhase 25525
23calcium heparinPhase 2812
24Antirheumatic AgentsPhase 210627
25Cyclooxygenase InhibitorsPhase 22778
26Peripheral Nervous System AgentsPhase 222776
27AntipyreticsPhase 21534
28AnalgesicsPhase 211287
29Analgesics, Non-NarcoticPhase 26260
30Anti-Inflammatory AgentsPhase 210355
31Anti-Inflammatory Agents, Non-SteroidalPhase 24295
32serineNutraceuticalPhase 2921
33
Amlodipineapproved48688150-42-92162
Synonyms:
()-Amlodipine
(RS)-3-ethyl 5-methyl 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
-3-(ethoxycarbonyl)-5-(methoxycarbonyl)-6-methyl-1,4-dihydropyridine
2-[(2-Aminoethoxy)methyl]-4-(2-chlorophenyl)
3,5-Pyridinedicarboxylic acid, 2-((2-aminoethoxy)methyl)-4-(2-chlorophenyl)-1,4-dihydro-6-methyl-, 3-ethyl 5-methyl ester
3,5-Pyridinedicarboxylic acid, 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-1,4-dihydro-6-methyl-, 3-ethyl 5-methyl ester
3-Ethyl 5-methylester, (±)-2-[(2-aminoethoxy)methyl]-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl ( -)-2-((2-aminoethoxy)methyl)-4-(2-chlorphenyl)-1,4-dihydro-6-methyl-3,5-pyridindicarboxylat
3-Ethyl-5-methyl ( -)-2-((2-aminoethoxymethyl)-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (+-)-2-(2-aminoethoxymethyl)-4-(O-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (+-)-2-(2-aminoethoxymethyl)-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (.+/-.)-2-[(2-aminoethoxy)methyl]-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-O-ethyl 5-O-methyl 2-(2-aminoethoxymethyl)-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
3-ethyl 5-methyl 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
3-ethyl 5-methyl 2-{[(2-aminoethyl)oxy]methyl}-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
88150-42-9
88150-47-4 (maleate (1:1))
AC-4535
AC1L1D26
AC1Q32ZS
AMLODIPINE BASE
AMVAZ
Ambap88150-42-9
Amlocard
Amlodipine
Amlodipine (INN)
Amlodipine Benzenesulfonate
Amlodipine Besilate
Amlodipine Besylate
Amlodipine Free Base
Amlodipine [INN:BAN]
Amlodipine besilate
Amlodipine besylate
Amlodipine free base
Amlodipino
Amlodipino [Spanish]
Amlodipinum
Amlodipinum [Latin]
Amlodis
Amlopres
Amlor
 
Amvaz
BIDD:GT0810
BRD-A22032524-074-02-4
BRD-A22032524-074-03-2
BSPBio_002727
C06825
CHEBI:2668
CHEMBL1491
CID2162
CPD000469198
Coroval
D07450
DB00381
HMS2052N03
HMS2089H07
I14-0798
Intervask
Istin
KBio3_001947
KBioGR_001643
LS-131183
Lipinox
Lotrel
MLS001401409
MolPort-001-792-963
NCGC00165957-01
NCGC00165957-02
NCGC00165957-03
Norvasc
Norvasc (TN)
Pelmec
R,S)-Amlodipine
Racemic Amlodipine
SAM001246705
SMR000469198
SPBio_000351
Spectrum2_000486
Spectrum3_001004
Spectrum4_001132
Spectrum5_001550
UK-4834011
UNII-1J444QC288
amlodipine
34Vasodilator Agents3438
35Antihypertensive Agents4095
36calcium channel blockers1940

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Efficacy of Low-Dose Ticagrelor in Chinese Patients With NSTE-ACSUnknown statusNCT02415803Phase 3
2Feasibility Assessment of ACS CatheterWithdrawnNCT01960517Phase 2, Phase 3
3PCI and Renal Denervation in Hypertensive Patients With Acute Coronary SyndromesUnknown statusNCT02272920Phase 2
4Study of Otamixaban Versus Unfractionated Heparin (UFH) and Eptifibatide in Non-ST Elevation Acute Coronary SyndromeCompletedNCT00317395Phase 2
5A Study to Compare the Safety of Rivaroxaban Versus Acetylsalicylic Acid in Addition to Either Clopidogrel or Ticagrelor Therapy in Participants With Acute Coronary SyndromeActive, not recruitingNCT02293395Phase 2
6European Quality Improvement Programme for Acute Coronary SyndromesUnknown statusNCT00716430
7Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial DifferencesCompletedNCT00340964
8Azilsartan Circadian and Sleep PressureCompletedNCT01762501
9Dairy Products and Metabolic Effects (Norwegian Part)CompletedNCT00140816

Search NIH Clinical Center for Apert Syndrome


Cochrane evidence based reviews: acrocephalosyndactylia

Genetic Tests for Apert Syndrome

About this section

Genetic tests related to Apert Syndrome:

id Genetic test Affiliating Genes
1 Acrocephalosyndactyly Type I27
2 Apert Syndrome24 FGFR2

Anatomical Context for Apert Syndrome

About this section

MalaCards organs/tissues related to Apert Syndrome:

36
Bone, Brain, Testes, Heart, Eye, Temporal lobe, Fetal brain

Publications for Apert Syndrome

About this section

Articles related to Apert Syndrome:

(show top 50)    (show all 89)
idTitleAuthorsYear
1
Extensive acne in Apert syndrome. (27428282)
2016
2
Apert syndrome: Surgical outcomes and perspectives. (27378001)
2016
3
Management of the Airway in Apert Syndrome. (26674912)
2016
4
Apert Syndrome: Outcomes From the Australian Craniofacial Unit's Birth to Maturity Management Protocol. (27380568)
2016
5
Apert syndrome: A case report and review of the literature. (28058401)
2016
6
EP01.09: The role ofA 2D and 3D ultrasound in the prenatal diagnosis of Apert syndrome. (27646570)
2016
7
Apert syndrome: A consensus on the management of Apert hands. (28087285)
2016
8
EP02.05: Prenatal diagnosis of Apert syndrome. (27644546)
2016
9
Evaluation of the maxillofacial morphological characteristics of Apert syndrome infants. (27534905)
2016
10
Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome. (27339175)
2016
11
Central nervous system and cervical spine abnormalities in Apert syndrome. (26861132)
2016
12
A third report of Apert syndrome in association with diaphragmatic hernia. (25714562)
2015
13
Perifascial areolar tissue grafting for treating syndactyly with bone fusion in patients with Apert syndrome. (26365357)
2015
14
Apert syndrome: temporal lobe abnormalities on fetal brain imaging. (25297884)
2015
15
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
16
Atypical presentation of a newborn with Apert syndrome. (25433548)
2015
17
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
18
Mandibular asymmetry in patients with the crouzon or apert syndrome. (24878346)
2015
19
Inhibited Wnt signaling causes age-dependent abnormalities in the bone matrix mineralization in the Apert syndrome FGFR2(S252W/+) mice. (25693202)
2015
20
Molding of top skull in the treatment of Apert syndrome. (25699533)
2015
21
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. (25867380)
2015
22
Frontofacial Monobloc Advancement With Simultaneous Frontal Cranioplasty in Adolescents With Residual Apert Syndrome Deformations. (26147044)
2015
23
Erratum: Anesthetic management of craniosynostosis repair in patient with Apert syndrome: Erratum. (26543480)
2015
24
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
25
Posterior Vault Distraction Osteogenesis Conveys Anterior Benefit in Apert Syndrome. (26397550)
2015
26
Treatment timing and multidisciplinary approach in Apert syndrome. (26330906)
2015
27
Alternative Methods for Nasotracheal Intubation and Extubation in a Patient With Apert Syndrome. (26398130)
2015
28
Apert syndrome with omphalocele: a case report. (25045033)
2014
29
Apert Syndrome. (26259326)
2014
30
Anesthetic management of craniosynostosis repair in patient with Apert syndrome. (25191197)
2014
31
A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family. (24486773)
2014
32
Assessing the corrective effects of facial bipartition distraction in Apert syndrome using geometric morphometrics. (24709088)
2014
33
The molecular and cellular basis of Apert syndrome. (25343114)
2013
34
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients. (23546041)
2013
35
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
36
Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome. (22664175)
2012
37
Apert syndrome in a newborn infant without craniosynostosis. (22627435)
2012
38
Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes. (21538817)
2011
39
Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome. (21706505)
2011
40
Manifested strabismus in a case of Apert syndrome. (21354088)
2011
41
Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester. (20708539)
2010
42
Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice. (20175913)
2010
43
Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis. (19940464)
2010
44
Apert syndrome with omphalocele. (20877364)
2010
45
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. (18726952)
2009
46
Fibroblast growth factor 10 plays a causative role in the tracheal cartilage defects in a mouse model of Apert syndrome. (19581825)
2009
47
Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model. (18773495)
2009
48
The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect. (19593369)
2009
49
A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. (18242159)
2008
50
Physical and oral characteristics of Crouzon syndrome, Apert syndrome, and Pierre Robin sequence. (18348368)
2008

Variations for Apert Syndrome

About this section

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

70
id Symbol AA change Variation ID SNP ID
1FGFR2p.Ser252PheVAR_004114rs121918498
2FGFR2p.Ser252TrpVAR_004115rs79184941
3FGFR2p.Pro253ArgVAR_004117rs77543610

Clinvar genetic disease variations for Apert Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp)SNVPathogenicrs79184941GRCh37Chr 10, 123279677: 123279677
2FGFR2NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg)SNVPathogenicrs77543610GRCh37Chr 10, 123279674: 123279674
3FGFR2NM_000141.4(FGFR2): c.755_756delCGinsTT (p.Ser252Phe)indelPathogenicrs121918498GRCh37Chr 10, 123279676: 123279677
4FGFR2FGFR2, ALU INSinsertionPathogenicChr na, -1: -1
5FGFR2NM_000141.4(FGFR2): c.756_758delGCCinsCTT (p.Pro253Phe)indelPathogenicrs387907372GRCh37Chr 10, 123279674: 123279676

Copy number variations for Apert Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11574210119100000135374737Copy numberFGFR2Apert syndrome

Expression for genes affiliated with Apert Syndrome

About this section
Search GEO for disease gene expression data for Apert Syndrome.

Pathways for genes affiliated with Apert Syndrome

About this section

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

(show all 43)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9FGF2, FGFR2
29.8FGF2, FGFR1
39.8FGF2, FGFR1
49.5FGFR1, FGFR2, FGFR3
59.5FGFR1, FGFR2, FGFR3
6
Show member pathways
9.5FGFR1, FGFR2, FGFR3
7
Show member pathways
9.4FGF2, FGF9, FGFR1
89.2FGF2, FGFR1, TWIST1
9
Show member pathways
9.2FGF2, FGFR1, FGFR2, FGFR3
109.2FGF2, FGFR1, FGFR2, FGFR3
119.2FGF2, FGFR1, FGFR2, FGFR3
129.1FGF10, FGF2, FGFR1, FGFR3
139.0FGF10, FGF2, TBX5
148.9FGF2, FGFR1, FGFR3, GLI3
158.7FGF2, FGF7, FGFR1, FGFR2, FGFR3
168.6FGF10, FGF2, FGF7, TBX5
178.5FGF2, FGFR1, FGFR2, FGFR3, TWIST1
18
Show member pathways
8.4FGF10, FGF2, FGF7, FGFR1, FGFR2, FGFR3
19
Show member pathways
8.4FGF10, FGF2, FGF7, FGFR1, FGFR2, FGFR3
20
Show member pathways
8.4FGF10, FGF2, FGF7, FGFR1, FGFR2, FGFR3
21
Show member pathways
8.4FGF10, FGF2, FGF7, FGFR1, FGFR2, FGFR3
22
Show member pathways
8.4FGF10, FGF2, FGF7, FGFR1, FGFR2, FGFR3
23
Show member pathways
8.4FGF10, FGF2, FGF7, FGFR1, FGFR2, FGFR3
24
Show member pathways
8.4FGF10, FGF2, FGF7, FGFR1, FGFR2, FGFR3
25
Show member pathways
8.4FGF10, FGF2, FGF7, FGFR1, FGFR2, FGFR3
26
Show member pathways
8.4FGF10, FGF2, FGF7, FGFR1, FGFR2, FGFR3
278.4FGF10, FGF2, FGF7, FGFR1, FGFR2, FGFR3
28
Show member pathways
8.3FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
29
Show member pathways
8.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
30
Show member pathways
8.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
31
Show member pathways
8.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
32
Show member pathways
8.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
33
Show member pathways
8.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
348.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
358.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
36
Show member pathways
8.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
37
Show member pathways
8.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
388.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
39
Show member pathways
8.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
40
Show member pathways
8.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
41
Show member pathways
8.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
42
Show member pathways
8.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
437.5FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2

GO Terms for genes affiliated with Apert Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2

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

(show top 50)    (show all 84)
idNameGO IDScoreTop Affiliating Genes
1branch elongation involved in salivary gland morphogenesisGO:006066710.7FGF10, FGFR2
2bud elongation involved in lung branchingGO:006044910.7FGF10, FGFR2
3embryonic pattern specificationGO:000988010.7FGF10, FGFR2
4epidermis morphogenesisGO:004873010.7FGF10, FGFR2
5epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.7FGF10, FGFR2
6fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:006059510.7FGF10, FGFR2
7lacrimal gland developmentGO:003280810.7FGF10, FGFR2
8limb bud formationGO:006017410.7FGF10, FGFR2
9lung alveolus developmentGO:004828610.7FGF10, FGFR2
10mammary gland bud formationGO:006061510.7FGF10, FGFR2
11mesenchymal cell differentiation involved in lung developmentGO:006091510.7FGF10, FGFR2
12organ growthGO:003526510.7FGF10, FGFR2
13otic vesicle formationGO:003091610.7FGF10, FGFR2
14bone mineralizationGO:003028210.7FGFR2, FGFR3
15bone morphogenesisGO:006034910.7FGFR2, FGFR3
16fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.6FGFR1, FGFR2
17mesenchymal cell differentiationGO:004876210.6FGFR1, FGFR2
18midbrain developmentGO:003090110.6FGFR1, FGFR2
19blood vessel morphogenesisGO:004851410.6FGF10, FGFR1
20orbitofrontal cortex developmentGO:002176910.6FGFR1, FGFR2
21positive regulation of cell cycleGO:004578710.6FGFR1, FGFR2
22positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.6FGF2, FGFR3
23positive regulation of endothelial cell chemotaxis to fibroblast growth factorGO:200054610.5FGF2, FGFR1
24positive regulation of phospholipase C activityGO:001086310.5FGF2, FGFR1
25positive regulation of epithelial cell proliferation involved in lung morphogenesisGO:006050110.5FGF7, FGFR2
26positive regulation of keratinocyte migrationGO:005154910.5FGF10, FGF7
27positive regulation of keratinocyte proliferationGO:001083810.5FGF10, FGF7
28branching morphogenesis of an epithelial tubeGO:004875410.5FGF10, GLI3
29limb developmentGO:006017310.5FGF10, GLI3
30limb morphogenesisGO:003510810.5FGF10, GLI3
31mammary gland specificationGO:006059410.5FGF10, GLI3
32metanephros developmentGO:000165610.5FGF10, GLI3
33embryonic morphogenesisGO:004859810.4FGF2, GLI3
34positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.4FGF10, FGF9
35regulation of smoothened signaling pathwayGO:000858910.4FGF10, FGFR2
36animal organ morphogenesisGO:000988710.4FGF10, FGF2, FGFR2
37embryonic cranial skeleton morphogenesisGO:004870110.4FGFR2, TWIST1
38protein localization to cell surfaceGO:003439410.4FGF10, FGF7
39odontogenesisGO:004247610.4FGFR2, TWIST1
40ventricular zone neuroblast divisionGO:002184710.3FGFR1, FGFR2
41salivary gland morphogenesisGO:000743510.3FGF10, FGFR1
42organ inductionGO:000175910.3FGF10, FGF2, FGFR1
43outer ear morphogenesisGO:004247310.3FGFR1, TWIST1
44secretion by lung epithelial cell involved in lung growthGO:006103310.2FGF10, FGF7
45hair follicle morphogenesisGO:003106910.2FGF10, FGF7, FGFR2
46positive regulation of phospholipase activityGO:001051810.2FGFR1, FGFR2, FGFR3
47lung-associated mesenchyme developmentGO:006048410.2FGF9, FGFR1, FGFR2
48embryonic digestive tract morphogenesisGO:004855710.2FGF10, FGFR2, GLI3
49positive chemotaxisGO:005091810.2FGF10, FGF2, FGF7
50positive regulation of mesenchymal cell proliferationGO:000205310.2FGF9, FGFR1, FGFR2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:001713410.2FGFR1, FGFR2, FGFR3
2fibroblast growth factor-activated receptor activityGO:000500710.1FGFR1, FGFR2, FGFR3
3fibroblast growth factor receptor bindingGO:000510410.1FGF10, FGF2, FGF9
4chemoattractant activityGO:004205610.1FGF10, FGF2, FGF7
5type 2 fibroblast growth factor receptor bindingGO:00051119.7FGF10, FGF7
6growth factor activityGO:00080839.6FGF10, FGF2, FGF7, FGF9
7heparin bindingGO:00082019.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
81-phosphatidylinositol-3-kinase activityGO:00163038.7FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
9phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469348.6FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
10protein tyrosine kinase activityGO:00047138.5FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
11Ras guanyl-nucleotide exchange factor activityGO:00050888.0FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2

Sources for Apert Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet