ACS1
MCID: ACR015
MIFTS: 65

Acrocephalosyndactylia (ACS1) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases categories
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Summaries for Acrocephalosyndactylia

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NIH Rare Diseases:42 Apert syndrome is a disorder mainly characterized by craniosynostosis (premature fusion of skull bones, causing abnormalities in the shape of the head and face) and syndactyly (fusion or webbing or fingers and/or toes). other signs and symptoms may include distinctive facial features (bulging and wide-set eyes; a beaked nose; an underdeveloped upper jaw leading to crowded teeth and other dental problems; and shallow eye sockets which can cause vision problems); polydactyly; hearing loss; hyperhidrosis (increased sweating); and other symptoms. cognitive abilities in affected individuals range from normal to mild or moderate intellectual disability. it is caused by mutations in the fgfr2 gene and is inherited in an autosomal dominant manner. management typically includes various surgical procedures that are tailored to the affected individual's needs. last updated: 7/1/2011

MalaCards based summary: Acrocephalosyndactylia, also known as apert syndrome, is related to infectious mononucleosis and beare-stevenson cutis gyrata syndrome, and has symptoms including turricephaly/oxycephaly/acrocephaly, brachycephaly/flat occiput and frontal bossing/prominent forehead. An important gene associated with Acrocephalosyndactylia is FGFR2 (fibroblast growth factor receptor 2), and among its related pathways are FGF signaling pathway and Signaling by FGFR3 mutants. The compounds pazopanib and regorafenib have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and lung, and related mouse phenotypes are hearing/vestibular/ear and muscle.

Disease Ontology:8 A synostosis that results in craniosynostosis and syndactyly.

Genetics Home Reference:21 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).

Wikipedia:65 Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and... more...

Description from OMIM:46 101200

Aliases & Classifications for Acrocephalosyndactylia

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Sources:
8Disease Ontology, 10DISEASES, 9diseasecard, 65Wikipedia, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 22GTR, 34MeSH, 27ICD9CM, 57SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Acrocephalosyndactylia, Aliases & Descriptions:

Name: Acrocephalosyndactylia 8 10
Apert Syndrome 8 9 65 42 20 21 46 44 48
Acrocephalo-Syndactyly Type 1 42 22
Acrocephalosyndactyly 65 21
Apert-Crouzon Disease 42 62
 
Acrocephaly 65 62
Acrocephalosyndactyly Type 1 48
Syndactylic Oxycephaly 42
Acs 1 42
Acs1 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
apert syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology8 DOID:12960
MeSH34 D000168
ICD9CM27 755.55
NCIt39 C34348
OMIM46 101200
MESH via Orphanet35 D000168
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0001193

Related Diseases for Acrocephalosyndactylia

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Diseases related to Acrocephalosyndactylia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1infectious mononucleosis30.5FGFR2, FGFR1
2beare-stevenson cutis gyrata syndrome30.4FGFR2
3syndactyly30.4FGFR3, FGFR2, MSX2
4strabismus30.2FGFR2, FGFR3
5crouzon syndrome29.9FGFR3, FGFR1, FGFR2, MSX2
6jackson-weiss syndrome29.7FGFR3, FGFR1, FGFR2
7fgfr-related craniosynostosis syndromes29.7FGFR3, FGFR1, FGFR2
8synostosis29.5MSX2, TWIST1, FGFR2, FGFR1, FGFR3
9saethre-chotzen syndrome29.3MSX2, TWIST1, FGFR2, FGFR1, FGFR3
10craniosynostosis29.2FGFR2, ARID1B, TWIST1, MSX2, FGFR1, FGFR3
11osteochondroma10.3FGFR3
12maroteaux fonfria syndrome10.3
13summitt syndrome10.3
14antley-bixler syndrome10.3FGFR2
15osteoglophonic dysplasia10.3FGFR1
16carpenter syndrome10.2
17pfeiffer syndrome10.2
18polydactyly10.2
19polyhydramnios10.2
20omphalocele10.2
21craniosynostosis, type 110.2
22brachydactyly10.1FGFR3, HEMK1
23ladd syndrome10.1FGFR3, FGFR2
24greig cephalopolysyndactyly syndrome10.1
25acne10.1
26choanal atresia10.1
27papillary carcinoma10.1
28congenital diaphragmatic hernia10.1
29encephalocele10.1
30humeroradial synostosis10.1
31pierre robin sequence10.1
32septo-optic dysplasia10.1
33dysgerminoma10.1
34thanatophoric dysplasia10.1FGFR2, FGFR3
35acanthosis nigricans10.0FGFR3, FGFR2
36hydrocephalus10.0
37dextrocardia10.0
38imperforate anus10.0
39chylous ascites10.0
40renal tubular dysgenesis10.0
41robinow sorauf syndrome10.0
42mental retardation10.0
43artery disease10.0
44sarcoidosis10.0
45achondroplasia10.0MSX2, FGFR2, FGFR3
46baller-gerold syndrome10.0
47crouzonodermoskeletal syndrome10.0
48hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.0
49chromosome 12p duplication10.0
50cole carpenter syndrome10.0

Graphical network of the top 20 diseases related to Acrocephalosyndactylia:



Diseases related to acrocephalosyndactylia

Symptoms for Acrocephalosyndactylia

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Symptoms by clinical synopsis from OMIM:

101200

Clinical features from OMIM:

101200

Symptoms:

48 (show all 45)
  • turricephaly/oxycephaly/acrocephaly
  • brachycephaly/flat occiput
  • frontal bossing/prominent forehead
  • flat face
  • proptosis/exophthalmos
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • depressed nasal bridge
  • conductive deafness/hearing loss
  • syndactyly of fingers/interdigital palm
  • syndactyly of toes
  • autosomal dominant inheritance
  • large fontanelle/delayed fontanelle closure
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • depressed premaxillary region/midface
  • prognathism/prognathia
  • strabismus/squint
  • beaked nose
  • high vaulted/narrow palate
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • vertebral segmentation anomaly/hemivertebrae
  • thumb hypoplasia/aplasia/absence
  • broad/bifid thumb
  • chronic arterial hypertension
  • corpus callosum/septum pellucidum total/partial agenesis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • cloverleaf skull
  • corneal ulceration/perforation
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • choanal atresia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • sensorineural deafness/hearing loss
  • rhizomelic micromelia
  • anus ectopia/anteposition/malposition
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • congenital cardiac anomaly/malformation/cardiopathy
  • dilated cerebral ventricles without hydrocephaly
  • hydrocephaly
  • arnold-chiari anomaly
  • ovary/ovarian teratoma/germinoma

HPO human phenotypes related to Acrocephalosyndactylia:

(show all 103)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 conductive hearing impairment hallmark (90%) HP:0000405
3 proptosis hallmark (90%) HP:0000520
4 toe syndactyly hallmark (90%) HP:0001770
5 frontal bossing hallmark (90%) HP:0002007
6 depressed nasal bridge hallmark (90%) HP:0005280
7 finger syndactyly hallmark (90%) HP:0006101
8 multicystic kidney dysplasia hallmark (90%) HP:0000003
9 short neck hallmark (90%) HP:0000470
10 thickened nuchal skin fold hallmark (90%) HP:0000474
11 thickened skin hallmark (90%) HP:0001072
12 craniosynostosis hallmark (90%) HP:0001363
13 obesity hallmark (90%) HP:0001513
14 omphalocele hallmark (90%) HP:0001539
15 hepatomegaly hallmark (90%) HP:0002240
16 abnormality of the gallbladder hallmark (90%) HP:0005264
17 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
18 abnormality of the fontanelles or cranial sutures typical (50%) HP:0000235
19 malar flattening typical (50%) HP:0000272
20 mandibular prognathia typical (50%) HP:0000303
21 hypertelorism typical (50%) HP:0000316
22 facial asymmetry typical (50%) HP:0000324
23 convex nasal ridge typical (50%) HP:0000444
24 strabismus typical (50%) HP:0000486
25 downslanted palpebral fissures typical (50%) HP:0000494
26 delayed eruption of teeth typical (50%) HP:0000684
27 hypertension typical (50%) HP:0000822
28 vertebral segmentation defect typical (50%) HP:0003422
29 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
30 aplasia/hypoplasia of the thumb typical (50%) HP:0009601
31 abnormality of thumb phalanx typical (50%) HP:0009602
32 cognitive impairment typical (50%) HP:0100543
33 abnormality of the spleen typical (50%) HP:0001743
34 cleft palate occasional (7.5%) HP:0000175
35 hydrocephalus occasional (7.5%) HP:0000238
36 sensorineural hearing impairment occasional (7.5%) HP:0000407
37 choanal atresia occasional (7.5%) HP:0000453
38 visual impairment occasional (7.5%) HP:0000505
39 optic atrophy occasional (7.5%) HP:0000648
40 respiratory insufficiency occasional (7.5%) HP:0002093
41 ventriculomegaly occasional (7.5%) HP:0002119
42 arnold-chiari malformation occasional (7.5%) HP:0002308
43 malformation of the heart and great vessels occasional (7.5%) HP:0002564
44 cloverleaf skull occasional (7.5%) HP:0002676
45 ectopic anus occasional (7.5%) HP:0004397
46 limb undergrowth occasional (7.5%) HP:0009826
47 ovarian neoplasm occasional (7.5%) HP:0100615
48 corneal erosion occasional (7.5%) HP:0200020
49 autosomal dominant inheritance HP:0000006
50 cryptorchidism HP:0000028
51 hydronephrosis HP:0000126
52 vaginal atresia HP:0000148
53 cleft palate HP:0000175
54 narrow palate HP:0000189
55 bifid uvula HP:0000193
56 hydrocephalus HP:0000238
57 large fontanelles HP:0000239
58 brachyturricephaly HP:0000244
59 delayed cranial suture closure HP:0000270
60 malar flattening HP:0000272
61 mandibular prognathia HP:0000303
62 hypertelorism HP:0000316
63 broad forehead HP:0000337
64 high forehead HP:0000348
65 hearing impairment HP:0000365
66 chronic otitis media HP:0000389
67 choanal stenosis HP:0000452
68 choanal atresia HP:0000453
69 strabismus HP:0000486
70 downslanted palpebral fissures HP:0000494
71 shallow orbits HP:0000586
72 delayed eruption of teeth HP:0000684
73 dental malocclusion HP:0000689
74 acne HP:0001061
75 postaxial hand polydactyly HP:0001162
76 preaxial hand polydactyly HP:0001177
77 intellectual disability HP:0001249
78 agenesis of corpus callosum HP:0001274
79 absent septum pellucidum HP:0001331
80 megalencephaly HP:0001355
81 growth abnormality HP:0001507
82 ventricular septal defect HP:0001629
83 pyloric stenosis HP:0002021
84 esophageal atresia HP:0002032
85 ventriculomegaly HP:0002119
86 overriding aorta HP:0002623
87 humeroradial synostosis HP:0003041
88 ectopic anus HP:0004397
89 coronal craniosynostosis HP:0004440
90 anomalous tracheal cartilage HP:0004468
91 acrobrachycephaly HP:0004487
92 cervical vertebrae fusion (c5/c6) HP:0004635
93 synostosis of carpal bones HP:0005048
94 depressed nasal bridge HP:0005280
95 arnold-chiari type i malformation HP:0007099
96 posterior fossa cyst HP:0007291
97 limbic malformations HP:0007343
98 broad distal hallux HP:0008111
99 broad distal phalanx of the thumb HP:0009642
100 cutaneous finger syndactyly HP:0010554
101 midface retrusion HP:0011800
102 flat face HP:0012368
103 arachnoid cyst HP:0100702

Drugs & Therapeutics for Acrocephalosyndactylia

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Drug clinical trials:

Search ClinicalTrials for Acrocephalosyndactylia

Search NIH Clinical Center for Acrocephalosyndactylia

Genetic Tests for Acrocephalosyndactylia

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Genetic tests related to Acrocephalosyndactylia:

id Genetic test Affiliating Genes
1 Apert Syndrome20 FGFR2
2 Acrocephalosyndactyly Type I22

Anatomical Context for Acrocephalosyndactylia

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MalaCards organs/tissues related to Acrocephalosyndactylia:

32
Bone, Eye, Lung, Ovary

Animal Models for Acrocephalosyndactylia or affiliated genes

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Publications for Acrocephalosyndactylia

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Articles related to Acrocephalosyndactylia:

idTitleAuthorsYear
1
Acrocephalosyndactylia associated with a chromosomal translocation. 46,XX, t (2p-; Cq+). (5493837)
1970
2
Acrocephalosyndactylia: two case reports. (13594964)
1958

Variations for Acrocephalosyndactylia

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UniProtKB/Swiss-Prot genetic disease variations for Acrocephalosyndactylia:

64
id Symbol AA change Variation ID SNP ID
1FGFR2p.Ser252PheVAR_004114
2FGFR2p.Ser252TrpVAR_004115
3FGFR2p.Pro253ArgVAR_004117

Clinvar genetic disease variations for Acrocephalosyndactylia:

6
id Gene Name Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.755C> G (p.Ser252Trp)single nucleotide variantPathogenicrs79184941GRCh37Chr 10, 123279677: 123279677
2FGFR2NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg)single nucleotide variantPathogenicrs77543610GRCh37Chr 10, 123279674: 123279674
3FGFR2NM_000141.4(FGFR2): c.755_756delCGinsTT (p.Ser252Phe)indelPathogenicrs121918498GRCh37Chr 10, 123279676: 123279677
4FGFR2FGFR2, ALU INSinsertionPathogenic
5FGFR2NM_000141.4(FGFR2): c.756_758delGCCinsCTT (p.Pro253Phe)indelPathogenicrs387907372GRCh37Chr 10, 123279674: 123279676

Expression for genes affiliated with Acrocephalosyndactylia

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Expression patterns in normal tissues for genes affiliated with Acrocephalosyndactylia

Search GEO for disease gene expression data for Acrocephalosyndactylia.

Pathways for genes affiliated with Acrocephalosyndactylia

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Pathways related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

(show all 31)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8FGFR1, FGFR2
2
Show member pathways
9.7FGFR3, FGFR1
39.7FGFR3, FGFR1
4
Show member pathways
9.4FGFR2, FGFR1, FGFR3
5
Show member pathways
Signaling Pathways in Glioblastoma37
9.4FGFR2, FGFR1, FGFR3
6
Show member pathways
MAPK signaling pathway37
9.4FGFR2, FGFR1, FGFR3
79.4FGFR2, FGFR1, FGFR3
8
Show member pathways
9.4FGFR2, FGFR1, FGFR3
9
Show member pathways
9.4FGFR2, FGFR1, FGFR3
10
Show member pathways
9.4FGFR2, FGFR1, FGFR3
11
Show member pathways
9.4FGFR2, FGFR1, FGFR3
12
Show member pathways
9.4FGFR2, FGFR1, FGFR3
13
Show member pathways
9.4FGFR2, FGFR1, FGFR3
149.4FGFR2, FGFR1, FGFR3
159.4FGFR2, FGFR1, FGFR3
16
Show member pathways
9.4FGFR2, FGFR1, FGFR3
17
Show member pathways
9.4FGFR2, FGFR1, FGFR3
18
Show member pathways
9.4FGFR3, FGFR1, FGFR2
19
Show member pathways
9.4FGFR3, FGFR1, FGFR2
20
Show member pathways
9.4FGFR3, FGFR1, FGFR2
21
Show member pathways
9.4FGFR3, FGFR1, FGFR2
229.4FGFR3, FGFR1, FGFR2
239.4FGFR3, FGFR1, FGFR2
24
Show member pathways
9.4FGFR3, FGFR1, FGFR2
25
Show member pathways
9.4FGFR3, FGFR1, FGFR2
269.4FGFR3, FGFR1, FGFR2
27
Show member pathways
9.4FGFR3, FGFR1, FGFR2
28
Show member pathways
9.4FGFR3, FGFR1, FGFR2
29
Show member pathways
9.4FGFR3, FGFR1, FGFR2
30
Show member pathways
9.4FGFR3, FGFR1, FGFR2
318.7FGFR3, FGFR1, FGFR2, TWIST1, MSX2

Compounds for genes affiliated with Acrocephalosyndactylia

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Compounds related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1pazopanib50 1110.9FGFR3, FGFR1
2regorafenib50 1110.8FGFR2, FGFR1
3su 5402619.7FGFR3, FGFR2, FGFR1
4pd 161570619.7FGFR2, FGFR1, FGFR3
5fiin 1 hydrochloride619.7FGFR2, FGFR1, FGFR3
6su5402449.6FGFR3, FGFR1, FGFR2
7pd 17307444 6110.6FGFR2, FGFR1, FGFR3
8palifermin44 1110.6FGFR3, FGFR1, FGFR2
9ponatinib50 1110.6FGFR2, FGFR1, FGFR3
10phenylalanine449.5FGFR3, FGFR1, FGFR2
11phosphotyrosine449.4FGFR3, FGFR1, FGFR2
12lysine449.4FGFR3, FGFR1, FGFR2
13oligonucleotide449.2MSX2, FGFR2, FGFR1, FGFR3
14paclitaxel44 50 1111.1FGFR1, FGFR2, TWIST1
15tyrosine448.4SNX13, TWIST1, FGFR2, FGFR1, FGFR3

GO Terms for genes affiliated with Acrocephalosyndactylia

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Cellular components related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.4FGFR3, FGFR1, FGFR2
2nucleusGO:0056346.6FGFR3, FERD3L, MSX2, TWISTNB, TWIST1, ARID1B

Biological processes related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1outflow tract septum morphogenesisGO:00314810.2FGFR2, MSX2
2cranial suture morphogenesisGO:06036310.2MSX2, TWIST1
3lens fiber cell developmentGO:07030710.2FGFR3, FGFR2
4negative regulation of mitosisGO:04583910.2FGFR3, FGFR2
5endochondral bone growthGO:00341610.2MSX2, FGFR3
6fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.2FGFR1, FGFR2
7ventricular zone neuroblast divisionGO:02184710.2FGFR1, FGFR2
8mesenchymal cell differentiationGO:04876210.2FGFR2, FGFR1
9lung-associated mesenchyme developmentGO:06048410.2FGFR2, FGFR1
10branching involved in salivary gland morphogenesisGO:06044510.2FGFR1, FGFR2
11embryonic cranial skeleton morphogenesisGO:04870110.2TWIST1, FGFR2
12bone morphogenesisGO:06034910.1FGFR2, FGFR3
13odontogenesisGO:04247610.1FGFR2, TWIST1
14outer ear morphogenesisGO:04247310.1FGFR1, TWIST1
15positive regulation of cardiac muscle cell proliferationGO:06004510.1FGFR2, FGFR1
16positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.1FGFR1, FGFR3
17embryonic hindlimb morphogenesisGO:03511610.1MSX2, TWIST1
18skeletal system morphogenesisGO:04870510.1FGFR2, FGFR1
19embryonic forelimb morphogenesisGO:03511510.1TWIST1, MSX2
20positive regulation of cell cycleGO:04578710.1FGFR1, FGFR2
21midbrain developmentGO:03090110.0FGFR1, FGFR2
22positive regulation of mesenchymal cell proliferationGO:00205310.0FGFR1, FGFR2
23cellular response to growth factor stimulusGO:07136310.0TWIST1, MSX2
24ureteric bud developmentGO:00165710.0FGFR2, FGFR1
25negative regulation of epithelial cell proliferationGO:05068010.0FGFR3, FGFR2
26osteoblast differentiationGO:0016499.9MSX2, TWIST1
27chondrocyte differentiationGO:0020629.9FGFR3, FGFR1
28positive regulation of canonical Wnt signaling pathwayGO:0902639.9FGFR3, FGFR2
29positive regulation of epithelial cell proliferationGO:0506799.8TWIST1, FGFR2
30positive regulation of phospholipase activityGO:0105189.8FGFR3, FGFR1, FGFR2
31positive regulation of MAPK cascadeGO:0434109.8FGFR2, FGFR1, FGFR3
32peptidyl-tyrosine phosphorylationGO:0181089.8FGFR3, FGFR1, FGFR2
33phosphatidylinositol-mediated signalingGO:0480159.8FGFR2, FGFR1, FGFR3
34insulin receptor signaling pathwayGO:0082869.8FGFR3, FGFR1, FGFR2
35protein autophosphorylationGO:0467779.8FGFR2, FGFR1, FGFR3
36fibroblast growth factor receptor signaling pathwayGO:0085439.8FGFR3, FGFR1, FGFR2
37in utero embryonic developmentGO:0017019.8FGFR1, FGFR2, TWIST1
38Fc-epsilon receptor signaling pathwayGO:0380959.7FGFR3, FGFR1, FGFR2
39epidermal growth factor receptor signaling pathwayGO:0071739.7FGFR3, FGFR1, FGFR2
40MAPK cascadeGO:0001659.7FGFR3, FGFR1
41inner ear morphogenesisGO:0424729.7FGFR2, FGFR1
42neurotrophin TRK receptor signaling pathwayGO:0480119.6FGFR2, FGFR1, FGFR3
43negative regulation of transcription from RNA polymerase II promoterGO:0001229.2MSX2, TWIST1, FGFR2, FGFR1, FGFR3
44positive regulation of cell proliferationGO:0082849.1FGFR3, FGFR1, FGFR2

Molecular functions related to Acrocephalosyndactylia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:0047139.4FGFR3, FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050079.3FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171349.1FGFR3, FGFR1, FGFR2

Products for genes affiliated with Acrocephalosyndactylia

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Sources for Acrocephalosyndactylia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet