MCID: FGF001
MIFTS: 33

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 22
Fgfr-Related Craniosynostosis 23
 
Acrocephalosyndactyly 22

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 jackson-weiss 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 summary 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 44)
idRelated DiseaseScoreTop Affiliating Genes
1apert syndrome32.0FGFR2, FGFR3
2jackson-weiss syndrome28.6FGFR1, FGFR2, FGFR3
3pfeiffer syndrome11.6
4saethre-chotzen syndrome11.6
5carpenter syndrome11.1
6robinow-sorauf syndrome11.0
7summitt syndrome11.0
8pfeiffer syndrome type 1, 2 and 310.9
9craniosynostosis10.2
10osteopetrosis and infantile neuroaxonal dystrophy10.0FGFR1, FGFR3
11syphilitic myelopathy10.0FGFR1, FGFR3
12acrocephalosyndactylia10.0
13grade iii astrocytoma9.9FGFR1, FGFR3
14crouzon syndrome9.8
15hydrocephalus9.8
16mite infestation9.8FGFR2, FGFR3
17accommodative esotropia9.8FGFR2, FGFR3
18crouzon syndrome with acanthosis nigricans9.8FGFR2, FGFR3
19pfn1-related amyotrophic lateral sclerosis9.7FGFR1, FGFR2
20adult astrocytic tumour9.7FGFR1, FGFR3
21glaucomatocyclitic crisis9.7FGFR2, FGFR3
22uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis9.7FGFR1, FGFR2
23scleredema adultorum9.7FGFR2, FGFR3
24weill-marchesani syndrome9.6FGFR1, FGFR2
25progeria9.5FGFR1, FGFR2
26myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.5FGFR1, FGFR2
27serous conjunctivitis except viral9.4FGFR2, FGFR3
28glycogen storage disease ix9.4FGFR1, FGFR2
29plasmalogens synthesis deficiency isolated9.3FGFR1, FGFR2, FGFR3
30trigonocephaly 19.3FGFR1, FGFR2, FGFR3
31bladder cancer, somatic9.3FGFR1, FGFR2, FGFR3
32hypogonadotropic hypogonadism 2 with or without anosmia9.3FGFR1, FGFR2, FGFR3
33central nervous system leukemia9.3FGFR1, FGFR2, FGFR3
34thanatophoric dysplasia, type i9.3FGFR1, FGFR2, FGFR3
35antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.3FGFR1, FGFR2, FGFR3
36beare-stevenson cutis gyrata syndrome9.3FGFR1, FGFR2, FGFR3
37thanatophoric dysplasia, type ii9.3FGFR1, FGFR2, FGFR3
38ischemic bone disease9.3FGFR1, FGFR2, FGFR3
39hypochondroplasia9.3FGFR1, FGFR2, FGFR3
40craniosynostosis, type 19.3FGFR1, FGFR2, FGFR3
41hypertrophic cardiomyopathy9.2FGFR1, FGFR2, FGFR3
42crohn's disease9.2FGFR1, FGFR2, FGFR3
43y-linked disease9.2FGFR2, FGFR3
44flnb-related disorders8.8FGFR1, 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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HPO human phenotypes related to Fgfr-Related Craniosynostosis Syndromes:

(show all 11)
id Description Frequency HPO Source Accession
1 multicystic kidney dysplasia hallmark (90%) HP:0000003
2 short neck hallmark (90%) HP:0000470
3 thickened nuchal skin fold hallmark (90%) HP:0000474
4 thickened skin hallmark (90%) HP:0001072
5 craniosynostosis hallmark (90%) HP:0001363
6 obesity hallmark (90%) HP:0001513
7 omphalocele hallmark (90%) HP:0001539
8 hepatomegaly hallmark (90%) HP:0002240
9 abnormality of the gallbladder hallmark (90%) HP:0005264
10 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
11 abnormality of the spleen 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 Craniosynostosis23 FGFR3

Anatomical Context for Fgfr-Related Craniosynostosis Syndromes

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8FGFR1, FGFR2, FGFR3
2MP:00053718.5FGFR1, FGFR2, FGFR3
3MP:00107718.3FGFR1, FGFR2, FGFR3, RHBDF1
4MP:00053898.1FGFR1, FGFR2, FGFR3, RHBDF1
5MP:00053978.1FGFR1, FGFR2, FGFR3, RHBDF1
6MP:00053818.0FGFR1, 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 33)
idSuper pathwaysScoreTop Affiliating Genes
19.3FGFR1, FGFR3
29.3FGFR1, FGFR3
39.0FGFR1, FGFR2
4
Show member pathways
8.5FGFR1, FGFR2, FGFR3
58.5FGFR1, FGFR2, FGFR3
68.5FGFR1, 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
208.5FGFR1, FGFR2, FGFR3
218.5FGFR1, FGFR2, FGFR3
22
Show member pathways
8.5FGFR1, FGFR2, FGFR3
238.5FGFR1, FGFR2, FGFR3
248.5FGFR1, FGFR2, FGFR3
258.5FGFR1, 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
29
Show member pathways
8.5FGFR1, 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
338.5FGFR1, FGFR2, FGFR3

GO Terms for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic, membrane-bounded vesicleGO:00160239.0FGFR1, FGFR2

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
3mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
4skeletal system developmentGO:00015019.6FGFR1, FGFR3
5positive regulation of cardiac muscle cell proliferationGO:00600459.6FGFR1, FGFR2
6positive regulation of cell cycleGO:00457879.6FGFR1, FGFR2
7skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
8branching involved in salivary gland morphogenesisGO:00604459.6FGFR1, FGFR2
9positive regulation of mesenchymal cell proliferationGO:00020539.5FGFR1, FGFR2
10bone mineralizationGO:00302829.5FGFR2, FGFR3
11ventricular zone neuroblast divisionGO:00218479.5FGFR1, FGFR2
12bone morphogenesisGO:00603499.5FGFR2, FGFR3
13midbrain developmentGO:00309019.4FGFR1, FGFR2
14lung developmentGO:00303249.4FGFR1, FGFR2
15ureteric bud developmentGO:00016579.4FGFR1, FGFR2
16inner ear morphogenesisGO:00424729.3FGFR1, FGFR2
17phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.2FGFR1, FGFR2, FGFR3
18phosphatidylinositol phosphorylationGO:00468549.1FGFR1, FGFR2, FGFR3
19regulation of phosphatidylinositol 3-kinase signalingGO:00140669.1FGFR1, FGFR2, FGFR3
20lung-associated mesenchyme developmentGO:00604849.1FGFR1, FGFR2
21phosphatidylinositol-mediated signalingGO:00480159.1FGFR1, FGFR2, FGFR3
22fibroblast growth factor receptor signaling pathwayGO:00085439.0FGFR1, FGFR2, FGFR3
23positive regulation of phospholipase activityGO:00105189.0FGFR1, FGFR2, FGFR3
24protein autophosphorylationGO:00467778.9FGFR1, FGFR2, FGFR3
25peptidyl-tyrosine phosphorylationGO:00181088.9FGFR1, FGFR2, FGFR3
26MAPK cascadeGO:00001658.9FGFR1, FGFR2, FGFR3
27positive regulation of MAPK cascadeGO:00434108.9FGFR1, FGFR2, FGFR3
28orbitofrontal cortex developmentGO:00217698.7FGFR1, FGFR2
29positive regulation of cell proliferationGO:00082848.5FGFR1, FGFR2, FGFR3
30positive regulation of GTPase activityGO:00435478.4FGFR1, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet