MCID: FGF001
MIFTS: 29

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 21
Fgfr-Related Craniosynostosis 22
 
Acrocephalosyndactyly 21

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 pfeiffer syndrome type 1, 2 and 3. 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 bone, bone marrow and liver, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

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 top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1apert syndrome32.3FGFR1, FGFR2, FGFR3
2pfeiffer syndrome type 1, 2 and 331.6FGFR1, FGFR2
3pfeiffer syndrome11.7
4saethre-chotzen syndrome11.6
5carpenter syndrome11.5
6robinow-sorauf syndrome11.4
7summitt syndrome11.4
8vestibular nystagmus10.4
9pulmonary tuberculosis10.4
10tuberculosis10.4
11acrocephalosyndactylia10.4
12breast cancer10.2
13alzheimer disease10.2
14jervell and lange-nielsen syndrome10.2
15trichotillomania10.2
16kawasaki disease10.2
17auditory agnosia10.2
18cardiac tamponade10.2
19oligohydramnios10.2
20hairy tongue10.2
21chondroblastoma10.2
22laryngitis10.2
23agnosia10.2
24epstein-barr virus-associated gastric carcinoma10.2
25adult astrocytic tumour10.0FGFR1, FGFR3
26cyclotropia9.9FGFR2, FGFR3
27slc16a1-related hyperinsulinism9.9FGFR2, FGFR3
28giant cell glioblastoma9.9FGFR1, FGFR3
29tenosynovial giant cell tumor9.8FGFR2, FGFR3
30hypochondroplasia9.8FGFR2, FGFR3
31loeys-dietz syndrome9.8FGFR1, FGFR2
32vulvovaginal candidiasis9.8FGFR1, FGFR2
33bronchogenic lung adenocarcinoma9.7FGFR1, FGFR2
34myasthenic syndrome, congenital, 2a, slow-channel9.7FGFR1, FGFR2
35autosomal recessive disease9.7FGFR2, FGFR3
36acute laryngopharyngitis9.6FGFR2, FGFR3
37asphyxiating thoracic dystrophy9.6FGFR1, FGFR2
38plagiocephaly and x-linked mental retardation9.6FGFR1, FGFR2, FGFR3
39bladder cancer, somatic9.6FGFR1, FGFR2, FGFR3
40hypogonadotropic hypogonadism 2 with or without anosmia9.5FGFR1, FGFR2, FGFR3
41poland syndrome9.5FGFR1, FGFR2, FGFR3
42diverticulitis of colon9.5FGFR1, FGFR2, FGFR3
43crouzon syndrome with acanthosis nigricans9.5FGFR1, FGFR2, FGFR3
44thanatophoric dysplasia, type i9.5FGFR1, FGFR2, FGFR3
45antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.5FGFR1, FGFR2, FGFR3
46beare-stevenson cutis gyrata syndrome9.5FGFR1, FGFR2, FGFR3
47bone deterioration disease9.5FGFR1, FGFR2, FGFR3
48thanatophoric dysplasia, type ii9.5FGFR1, FGFR2, FGFR3
49craniosynostosis, type 19.5FGFR1, FGFR2, FGFR3
50bardet-biedl syndrome9.5FGFR2, FGFR3

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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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 Craniosynostosis22 FGFR3

Anatomical Context for Fgfr-Related Craniosynostosis Syndromes

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

33
Bone, Bone marrow, Liver

Animal Models for Fgfr-Related Craniosynostosis Syndromes or affiliated genes

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MGI Mouse Phenotypes related to Fgfr-Related Craniosynostosis Syndromes:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8FGFR1, FGFR2, FGFR3
2MP:00053778.4FGFR1, FGFR2, FGFR3
3MP:00107718.3FGFR1, FGFR2, FGFR3, RHBDF1
4MP:00053898.2FGFR1, FGFR2, FGFR3, RHBDF1
5MP:00053818.2FGFR1, FGFR2, FGFR3, RHBDF1
6MP:00053978.0FGFR1, FGFR2, FGFR3, RHBDF1
7MP:00053877.7FGFR1, FGFR2, FGFR3, RHBDF1

Publications for Fgfr-Related Craniosynostosis Syndromes

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Articles related to Fgfr-Related Craniosynostosis Syndromes:

idTitleAuthorsYear
1
Serum biomarkers in nonalcoholic steatohepatitis: value for assessing drug effects? (23227839)
2012
2
Hepatic arterial resistance index--an indicator of diffuse liver disease in children treated with bone marrow transplantation. (9413962)
1997

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 29)
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
78.5FGFR1, FGFR2, FGFR3
8
Show member pathways
8.5FGFR1, 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
168.5FGFR1, FGFR2, FGFR3
17
Show member pathways
8.5FGFR1, FGFR2, FGFR3
188.5FGFR1, FGFR2, FGFR3
19
Show member pathways
8.5FGFR1, FGFR2, FGFR3
208.5FGFR1, FGFR2, FGFR3
218.5FGFR1, FGFR2, FGFR3
22
Show member pathways
8.5FGFR1, FGFR2, FGFR3
23
Show member pathways
8.5FGFR1, FGFR2, FGFR3
24
Show member pathways
8.5FGFR1, 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

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 27)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.7FGFR1, FGFR2
2lung-associated mesenchyme developmentGO:00604849.7FGFR1, FGFR2
3positive regulation of MAPK cascadeGO:00434109.6FGFR2, FGFR3
4positive regulation of cell cycleGO:00457879.6FGFR1, FGFR2
5positive regulation of mesenchymal cell proliferationGO:00020539.6FGFR1, FGFR2
6positive regulation of cardiac muscle cell proliferationGO:00600459.6FGFR1, FGFR2
7positive regulation of ERK1 and ERK2 cascadeGO:00703749.5FGFR2, FGFR3
8skeletal system morphogenesisGO:00487059.5FGFR1, FGFR2
9bone morphogenesisGO:00603499.5FGFR2, FGFR3
10branching involved in salivary gland morphogenesisGO:00604459.5FGFR1, FGFR2
11bone mineralizationGO:00302829.4FGFR2, FGFR3
12positive regulation of phospholipase activityGO:00105189.1FGFR1, FGFR2, FGFR3
13regulation of phosphatidylinositol 3-kinase signalingGO:00140669.1FGFR1, FGFR2, FGFR3
14phosphatidylinositol-mediated signalingGO:00480159.1FGFR1, FGFR2, FGFR3
15phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.0FGFR1, FGFR2, FGFR3
16lung developmentGO:00303249.0FGFR1, FGFR2
17orbitofrontal cortex developmentGO:00217699.0FGFR1, FGFR2
18epidermal growth factor receptor signaling pathwayGO:00071739.0FGFR1, FGFR2, FGFR3
19protein autophosphorylationGO:00467779.0FGFR1, FGFR2, FGFR3
20fibroblast growth factor receptor signaling pathwayGO:00085438.9FGFR1, FGFR2, FGFR3
21Ras protein signal transductionGO:00072658.9FGFR1, FGFR2, FGFR3
22MAPK cascadeGO:00001658.9FGFR1, FGFR2, FGFR3
23vascular endothelial growth factor receptor signaling pathwayGO:00480108.8FGFR1, FGFR2, FGFR3
24insulin receptor signaling pathwayGO:00082868.8FGFR1, FGFR2, FGFR3
25axon guidanceGO:00074118.6FGFR1, FGFR2, FGFR3
26neurotrophin TRK receptor signaling pathwayGO:00480118.4FGFR1, FGFR2, FGFR3
27innate immune responseGO:00450878.2FGFR1, 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:00050079.6FGFR2, FGFR3
2protein tyrosine kinase activityGO:00047138.5FGFR1, FGFR2, FGFR3

Sources for Fgfr-Related Craniosynostosis Syndromes

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet