MCID: FGF001
MIFTS: 32

Fgfr-Related Craniosynostosis Syndromes malady

Category: Genetic diseases (common)

Aliases & Classifications for Fgfr-Related Craniosynostosis Syndromes

About this section

Aliases & Descriptions for Fgfr-Related Craniosynostosis Syndromes:

Name: Fgfr-Related Craniosynostosis Syndromes 23
Fgfr-Related Craniosynostosis 24
 
Acrocephalosyndactyly 23

Characteristics:

GeneReviews:

23
Penetrance: fgfr-related coronal synostosis is usually autosomal dominant with reduced penetrance...


Classifications:



Summaries for Fgfr-Related Craniosynostosis Syndromes

About this section
MalaCards based summary: Fgfr-Related Craniosynostosis Syndromes, also known as fgfr-related craniosynostosis, is related to apert syndrome and robinow-sorauf syndrome, and has symptoms including multicystic kidney dysplasia, turricephaly and short neck. An important gene associated with Fgfr-Related Craniosynostosis Syndromes is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Endochondral Ossification. Affiliated tissues include skin, kidney and spleen, and related mouse phenotypes are Decreased substrate adherent cell growth and Decreased human cytomegalovirus (HCMV) strain AD169 replication.

GeneReviews for NBK1455

Related Diseases for Fgfr-Related Craniosynostosis Syndromes

About this section

Diseases related to Fgfr-Related Craniosynostosis Syndromes via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1apert syndrome32.0FGFR1, FGFR2, FGFR3
2robinow-sorauf syndrome30.7FGFR1, FGFR2, FGFR3
3saethre-chotzen syndrome11.5
4pfeiffer syndrome11.5
5carpenter syndrome11.0
6summitt syndrome10.9
7pfeiffer syndrome type 1, 2 and 310.7
8craniosynostosis10.1
9t cell immunodeficiency primary10.0FGFR1, FGFR3
10ovarian epithelial cancer10.0FGFR1, FGFR3
11early myoclonic encephalopathy10.0FGFR1, FGFR3
12antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.0FGFR2, FGFR3
13cervical spinal canal and spinal cord meningioma10.0FGFR2, FGFR3
14aica-ribosiduria due to atic deficiency9.9FGFR2, FGFR3
15muenke syndrome9.9FGFR2, FGFR3
16lingual-facial-buccal dyskinesia9.9FGFR2, FGFR3
17pkp1-related ectodermal dysplasia/skin fragility syndrome9.9FGFR1, FGFR2
18pitx3-related anterior segment mesenchymal dysgenesis9.9FGFR1, FGFR2
19sp7-related osteogenesis imperfecta9.9FGFR2, FGFR3
20juvenile astrocytoma9.9FGFR1, FGFR3
21acrofacial dysostosis, palagonia type9.9FGFR1, FGFR2
22leg dermatosis9.9FGFR2, FGFR3
23epidemic typhus9.9FGFR1, FGFR2
24hypoparathyroidism9.9FGFR2, FGFR3
25autosomal genetic disease9.8FGFR2, FGFR3
26pancreatic cystadenoma9.8FGFR1, FGFR2
27hartsfield syndrome9.8FGFR1, FGFR2, FGFR3
28pointer syndrome9.7FGFR1, FGFR2, FGFR3
29osteoglophonic dysplasia9.7FGFR1, FGFR2, FGFR3
30crouzon syndrome with acanthosis nigricans9.7FGFR1, FGFR2, FGFR3
31scaphocephaly, maxillary retrusion, and mental retardation9.7FGFR1, FGFR2, FGFR3
32cervical cancer, somatic9.7FGFR1, FGFR2, FGFR3
33thanatophoric dysplasia, type i9.7FGFR1, FGFR2, FGFR3
34saddan9.7FGFR1, FGFR2, FGFR3
35bone structure disease9.7FGFR1, FGFR2, FGFR3
36atrophy of testis9.7FGFR1, FGFR2, FGFR3
37hypogonadotropic hypogonadism 2 with or without anosmia9.7FGFR1, FGFR2, FGFR3
38cutaneous leishmaniasis9.7FGFR1, FGFR2, FGFR3
39renal tubular dysgenesis9.7
40jackson-weiss syndrome9.7
41crouzon syndrome9.7
42hydrocephalus9.7
43myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.7FGFR1, FGFR2
44familial porphyria cutanea tarda9.5FGFR1, FGFR2, FGFR3, RHBDF1

Graphical network of the top 20 diseases related to Fgfr-Related Craniosynostosis Syndromes:



Diseases related to fgfr-related craniosynostosis syndromes

Symptoms & Phenotypes for Fgfr-Related Craniosynostosis Syndromes

About this section

Human phenotypes related to Fgfr-Related Craniosynostosis Syndromes:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 multicystic kidney dysplasia64 HP:0000003
2 turricephaly64 HP:0000262
3 short neck64 HP:0000470
4 thickened nuchal skin fold64 HP:0000474
5 hemangioma64 HP:0001028
6 thickened skin64 HP:0001072
7 biliary tract abnormality64 HP:0001080
8 craniosynostosis64 HP:0001363
9 obesity64 HP:0001513
10 omphalocele64 HP:0001539
11 abnormality of the spleen64 HP:0001743
12 pulmonary hypoplasia64 HP:0002089
13 hepatomegaly64 HP:0002240

GenomeRNAi Phenotypes related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00193-A-310.0FGFR2, FGFR3
2GR00248-A9.3FGFR1, FGFR2, FGFR3

MGI Mouse Phenotypes related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3FGFR1, FGFR2, FGFR3
2MP:00053818.8FGFR1, FGFR2, FGFR3, RHBDF1
3MP:00107718.8FGFR1, FGFR2, FGFR3, RHBDF1
4MP:00028738.8FGFR1, FGFR2, FGFR3, RHBDF1
5MP:00053898.8FGFR1, FGFR2, FGFR3, RHBDF1
6MP:00053908.7FGFR1, FGFR2, FGFR3, RHBDF1
7MP:00053918.0FGFR1, FGFR2, FGFR3, RHBDF1

Drugs & Therapeutics for Fgfr-Related Craniosynostosis Syndromes

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fgfr-Related Craniosynostosis Syndromes

Genetic Tests for Fgfr-Related Craniosynostosis Syndromes

About this section

Genetic tests related to Fgfr-Related Craniosynostosis Syndromes:

id Genetic test Affiliating Genes
1 Fgfr-Related Craniosynostosis24 FGFR3

Anatomical Context for Fgfr-Related Craniosynostosis Syndromes

About this section

MalaCards organs/tissues related to Fgfr-Related Craniosynostosis Syndromes:

36
Skin, Kidney, Spleen

Publications for Fgfr-Related Craniosynostosis Syndromes

About this section

Articles related to Fgfr-Related Craniosynostosis Syndromes:

idTitleAuthorsYear
1
Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes. (19860525)
2010
2
FGFR-Related Craniosynostosis Syndromes (20301628)
1993

Variations for Fgfr-Related Craniosynostosis Syndromes

About this section

Clinvar genetic disease variations for Fgfr-Related Craniosynostosis Syndromes:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_ 022970.3(FGFR2): c.755C> G (p.Ser252Trp)SNVPathogenic/ Likely pathogenicrs79184941GRCh37Chr 10, 123279677: 123279677

Expression for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

About this section
Search GEO for disease gene expression data for Fgfr-Related Craniosynostosis Syndromes.

Pathways for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

About this section

Pathways related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards Suite gene sharing:

(show all 34)
idSuper pathwaysScoreTop Affiliating Genes
19.3FGFR1, FGFR3
29.3FGFR1, FGFR3
39.0FGFR1, FGFR2
4
Show member pathways
8.5FGFR1, FGFR2, FGFR3
5
Show member pathways
8.5FGFR1, FGFR2, FGFR3
6
Show member pathways
8.5FGFR1, FGFR2, FGFR3
7
Show member pathways
8.5FGFR1, FGFR2, FGFR3
88.5FGFR1, FGFR2, FGFR3
9
Show member pathways
8.5FGFR1, FGFR2, FGFR3
10
Show member pathways
8.5FGFR1, FGFR2, FGFR3
11
Show member pathways
8.5FGFR1, FGFR2, FGFR3
12
Show member pathways
8.5FGFR1, FGFR2, FGFR3
13
Show member pathways
8.5FGFR1, FGFR2, FGFR3
14
Show member pathways
8.5FGFR1, FGFR2, FGFR3
15
Show member pathways
8.5FGFR1, FGFR2, FGFR3
16
Show member pathways
8.5FGFR1, FGFR2, FGFR3
178.5FGFR1, FGFR2, FGFR3
18
Show member pathways
8.5FGFR1, FGFR2, FGFR3
198.5FGFR1, FGFR2, FGFR3
20
Show member pathways
8.5FGFR1, FGFR2, FGFR3
21
Show member pathways
8.5FGFR1, FGFR2, FGFR3
228.5FGFR1, FGFR2, FGFR3
238.5FGFR1, FGFR2, FGFR3
248.5FGFR1, FGFR2, FGFR3
25
Show member pathways
8.5FGFR1, FGFR2, FGFR3
26
Show member pathways
8.5FGFR1, FGFR2, FGFR3
27
Show member pathways
8.5FGFR1, FGFR2, FGFR3
28
Show member pathways
8.5FGFR1, FGFR2, FGFR3
298.5FGFR1, FGFR2, FGFR3
30
Show member pathways
8.5FGFR1, FGFR2, FGFR3
31
Show member pathways
8.5FGFR1, FGFR2, FGFR3
32
Show member pathways
8.5FGFR1, FGFR2, FGFR3
33
Show member pathways
8.5FGFR1, FGFR2, FGFR3
348.5FGFR1, FGFR2, FGFR3

GO Terms for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

About this section

Cellular components related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:00314108.5FGFR1, FGFR2, FGFR3

Biological processes related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards Suite gene sharing:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:000206210.1FGFR1, FGFR3
2bone mineralizationGO:00302829.9FGFR2, FGFR3
3bone morphogenesisGO:00603499.9FGFR2, FGFR3
4endochondral bone growthGO:00034169.9FGFR2, FGFR3
5skeletal system developmentGO:00015019.8FGFR1, FGFR3
6branching involved in salivary gland morphogenesisGO:00604459.8FGFR1, FGFR2
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
8inner ear morphogenesisGO:00424729.8FGFR1, FGFR2
9lung developmentGO:00303249.8FGFR1, FGFR2
10lung-associated mesenchyme developmentGO:00604849.8FGFR1, FGFR2
11mesenchymal cell differentiationGO:00487629.8FGFR1, FGFR2
12midbrain developmentGO:00309019.8FGFR1, FGFR2
13orbitofrontal cortex developmentGO:00217699.8FGFR1, FGFR2
14positive regulation of cardiac muscle cell proliferationGO:00600459.8FGFR1, FGFR2
15positive regulation of cell cycleGO:00457879.8FGFR1, FGFR2
16positive regulation of mesenchymal cell proliferationGO:00020539.7FGFR1, FGFR2
17skeletal system morphogenesisGO:00487059.5FGFR1, FGFR2
18fibroblast growth factor receptor signaling pathwayGO:00085439.3FGFR1, FGFR2, FGFR3
19MAPK cascadeGO:00001659.3FGFR1, FGFR2, FGFR3
20peptidyl-tyrosine phosphorylationGO:00181089.3FGFR1, FGFR2, FGFR3
21phosphatidylinositol phosphorylationGO:00468549.3FGFR1, FGFR2, FGFR3
22phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.3FGFR1, FGFR2, FGFR3
23phosphatidylinositol-mediated signalingGO:00480159.3FGFR1, FGFR2, FGFR3
24phosphorylationGO:00163109.3FGFR1, FGFR2, FGFR3
25positive regulation of cell proliferationGO:00082849.2FGFR1, FGFR2, FGFR3
26positive regulation of GTPase activityGO:00435479.2FGFR1, FGFR2, FGFR3
27positive regulation of MAPK cascadeGO:00434109.2FGFR1, FGFR2, FGFR3
28positive regulation of phospholipase activityGO:00105189.2FGFR1, FGFR2, FGFR3
29protein autophosphorylationGO:00467779.2FGFR1, FGFR2, FGFR3
30protein phosphorylationGO:00064689.1FGFR1, FGFR2, FGFR3
31regulation of phosphatidylinositol 3-kinase signalingGO:00140669.1FGFR1, FGFR2, FGFR3
32ureteric bud developmentGO:00016579.0FGFR1, FGFR2
33ventricular zone neuroblast divisionGO:00218479.0FGFR1, FGFR2

Molecular functions related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:00163039.3FGFR1, FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.3FGFR1, FGFR2, FGFR3
3fibroblast growth factor-activated receptor activityGO:00050079.3FGFR1, FGFR2, FGFR3
4kinase activityGO:00163019.2FGFR1, FGFR2, FGFR3
5nucleotide bindingGO:00001669.2FGFR1, FGFR2, FGFR3
6phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.2FGFR1, FGFR2, FGFR3
7protein kinase activityGO:00046729.1FGFR1, FGFR2, FGFR3
8protein tyrosine kinase activityGO:00047139.1FGFR1, FGFR2, FGFR3
9Ras guanyl-nucleotide exchange factor activityGO:00050889.0FGFR1, FGFR2, FGFR3
10transmembrane receptor protein tyrosine kinase activityGO:00047148.5FGFR1, FGFR2, FGFR3

Sources for Fgfr-Related Craniosynostosis Syndromes

About this section
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