MCID: FGF001
MIFTS: 31

Fgfr-Related Craniosynostosis Syndromes malady

Category: Genetic diseases (common)

Aliases & Classifications for Fgfr-Related Craniosynostosis Syndromes

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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

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MalaCards based summary: Fgfr-Related Craniosynostosis Syndromes, also known as fgfr-related craniosynostosis, is related to apert syndrome and saethre-chotzen syndrome, and has symptoms including multicystic kidney dysplasia, short neck and thickened nuchal skin fold. 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, lung and kidney, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

GeneReviews for NBK1455

Related Diseases for Fgfr-Related Craniosynostosis Syndromes

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1apert syndrome32.1FGFR2, FGFR3
2saethre-chotzen syndrome11.5
3pfeiffer syndrome11.5
4carpenter syndrome11.0
5summitt syndrome10.9
6robinow-sorauf syndrome10.7
7pfeiffer syndrome type 1, 2 and 310.7
8craniosynostosis10.1
9osteopetrosis and infantile neuroaxonal dystrophy9.9FGFR1, FGFR3
10syphilitic myelopathy9.9FGFR1, FGFR3
11grade iii astrocytoma9.8FGFR1, FGFR3
12mite infestation9.8FGFR2, FGFR3
13accommodative esotropia9.8FGFR2, FGFR3
14crouzon syndrome with acanthosis nigricans9.7FGFR2, FGFR3
15adult astrocytic tumour9.7FGFR1, FGFR3
16pfn1-related amyotrophic lateral sclerosis9.7FGFR1, FGFR2
17crouzon syndrome9.7
18hydrocephalus9.7
19glaucomatocyclitic crisis9.7FGFR2, FGFR3
20uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis9.7FGFR1, FGFR2
21scleredema adultorum9.7FGFR2, FGFR3
22myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.5FGFR1, FGFR2
23serous conjunctivitis except viral9.5FGFR2, FGFR3
24glycogen storage disease ix9.5FGFR1, FGFR2
25plasmalogens synthesis deficiency isolated9.4FGFR1, FGFR2, FGFR3
26trigonocephaly 19.3FGFR1, FGFR2, FGFR3
27bladder cancer, somatic9.3FGFR1, FGFR2, FGFR3
28hypogonadotropic hypogonadism 2 with or without anosmia9.3FGFR1, FGFR2, FGFR3
29central nervous system leukemia9.3FGFR1, FGFR2, FGFR3
30thanatophoric dysplasia, type i9.3FGFR1, FGFR2, FGFR3
31antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.3FGFR1, FGFR2, FGFR3
32beare-stevenson cutis gyrata syndrome9.3FGFR1, FGFR2, FGFR3
33thanatophoric dysplasia, type ii9.3FGFR1, FGFR2, FGFR3
34ischemic bone disease9.3FGFR1, FGFR2, FGFR3
35hypochondroplasia9.3FGFR1, FGFR2, FGFR3
36craniosynostosis, type 19.3FGFR1, FGFR2, FGFR3
37y-linked disease9.3FGFR2, FGFR3
38jackson-weiss syndrome9.3FGFR1, FGFR2, FGFR3
39crohn's disease9.3FGFR1, FGFR2, FGFR3
40flnb-related disorders8.9FGFR1, FGFR2, FGFR3, RHBDF1

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



Diseases related to fgfr-related craniosynostosis syndromes

Symptoms for Fgfr-Related Craniosynostosis Syndromes

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Human phenotypes related to Fgfr-Related Craniosynostosis Syndromes:

 63 (show all 11)
id Description HPO Frequency HPO Source Accession
1 multicystic kidney dysplasia63 hallmark (90%) HP:0000003
2 short neck63 hallmark (90%) HP:0000470
3 thickened nuchal skin fold63 hallmark (90%) HP:0000474
4 thickened skin63 hallmark (90%) HP:0001072
5 craniosynostosis63 hallmark (90%) HP:0001363
6 obesity63 hallmark (90%) HP:0001513
7 omphalocele63 hallmark (90%) HP:0001539
8 hepatomegaly63 hallmark (90%) HP:0002240
9 abnormality of the gallbladder63 hallmark (90%) HP:0005264
10 aplasia/hypoplasia of the lungs63 hallmark (90%) HP:0006703
11 abnormality of the spleen63 typical (50%) HP:0001743

Drugs & Therapeutics for Fgfr-Related Craniosynostosis Syndromes

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Interventional clinical trials:

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

Genetic Tests for Fgfr-Related Craniosynostosis Syndromes

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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

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

35
Skin, Lung, Kidney, Spleen

Animal Models for Fgfr-Related Craniosynostosis Syndromes or affiliated genes

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MGI Mouse Phenotypes related to Fgfr-Related Craniosynostosis Syndromes:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3FGFR1, FGFR2, FGFR3
2MP:00053719.3FGFR1, FGFR2, FGFR3
3MP:00053818.8FGFR1, FGFR2, FGFR3, RHBDF1
4MP:00053978.8FGFR1, FGFR2, FGFR3, RHBDF1
5MP:00107718.8FGFR1, FGFR2, FGFR3, RHBDF1
6MP:00053898.0FGFR1, FGFR2, FGFR3, RHBDF1

Publications for Fgfr-Related Craniosynostosis Syndromes

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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

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Expression for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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

Pathways for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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

(show all 30)
idSuper pathwaysScoreTop Affiliating Genes
19.3FGFR1, FGFR3
29.3FGFR1, FGFR3
39.0FGFR1, FGFR2
48.5FGFR1, 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
148.5FGFR1, FGFR2, FGFR3
15
Show member pathways
8.5FGFR1, FGFR2, FGFR3
16
Show member pathways
8.5FGFR1, FGFR2, FGFR3
178.5FGFR1, FGFR2, FGFR3
188.5FGFR1, FGFR2, FGFR3
198.5FGFR1, FGFR2, FGFR3
20
Show member pathways
8.5FGFR1, FGFR2, FGFR3
218.5FGFR1, FGFR2, FGFR3
228.5FGFR1, FGFR2, FGFR3
238.5FGFR1, FGFR2, FGFR3
24
Show member pathways
8.5FGFR1, FGFR2, FGFR3
25
Show member pathways
8.5FGFR1, FGFR2, FGFR3
268.5FGFR1, FGFR2, FGFR3
27
Show member pathways
8.5FGFR1, FGFR2, FGFR3
28
Show member pathways
8.5FGFR1, FGFR2, FGFR3
29
Show member pathways
8.5FGFR1, FGFR2, FGFR3
308.5FGFR1, FGFR2, FGFR3

GO Terms for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:00020629.8FGFR1, FGFR3
2fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
3skeletal system developmentGO:00015019.7FGFR1, FGFR3
4mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
5bone mineralizationGO:00302829.6FGFR2, FGFR3
6positive regulation of cardiac muscle cell proliferationGO:00600459.6FGFR1, FGFR2
7positive regulation of cell cycleGO:00457879.6FGFR1, FGFR2
8skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
9bone morphogenesisGO:00603499.5FGFR2, FGFR3
10branching involved in salivary gland morphogenesisGO:00604459.5FGFR1, FGFR2
11positive regulation of mesenchymal cell proliferationGO:00020539.5FGFR1, FGFR2
12ventricular zone neuroblast divisionGO:00218479.5FGFR1, FGFR2
13ureteric bud developmentGO:00016579.5FGFR1, FGFR2
14lung developmentGO:00303249.4FGFR1, FGFR2
15inner ear morphogenesisGO:00424729.4FGFR1, FGFR2
16midbrain developmentGO:00309019.4FGFR1, FGFR2
17phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.2FGFR1, FGFR2, FGFR3
18lung-associated mesenchyme developmentGO:00604849.1FGFR1, FGFR2
19phosphatidylinositol phosphorylationGO:00468549.1FGFR1, FGFR2, FGFR3
20regulation of phosphatidylinositol 3-kinase signalingGO:00140669.1FGFR1, FGFR2, FGFR3
21phosphatidylinositol-mediated signalingGO:00480159.1FGFR1, FGFR2, FGFR3
22fibroblast growth factor receptor signaling pathwayGO:00085439.1FGFR1, FGFR2, FGFR3
23positive regulation of phospholipase activityGO:00105189.0FGFR1, FGFR2, FGFR3
24peptidyl-tyrosine phosphorylationGO:00181089.0FGFR1, FGFR2, FGFR3
25protein autophosphorylationGO:00467778.9FGFR1, FGFR2, FGFR3
26positive regulation of MAPK cascadeGO:00434108.8FGFR1, FGFR2, FGFR3
27orbitofrontal cortex developmentGO:00217698.7FGFR1, FGFR2
28MAPK cascadeGO:00001658.7FGFR1, FGFR2, FGFR3
29positive regulation of GTPase activityGO:00435478.6FGFR1, FGFR2, FGFR3
30positive regulation of cell proliferationGO:00082848.5FGFR1, FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.1FGFR1, FGFR2, FGFR3
21-phosphatidylinositol-3-kinase activityGO:00163038.9FGFR1, FGFR2, FGFR3
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469348.8FGFR1, FGFR2, FGFR3
4fibroblast growth factor bindingGO:00171348.6FGFR1, FGFR2, FGFR3
5Ras guanyl-nucleotide exchange factor activityGO:00050888.5FGFR1, FGFR2, FGFR3
6protein tyrosine kinase activityGO:00047138.2FGFR1, FGFR2, FGFR3

Sources for Fgfr-Related Craniosynostosis Syndromes

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet