Aliases & Classifications for Fgfr-Related Craniosynostosis Syndromes

MalaCards integrated aliases for Fgfr-Related Craniosynostosis Syndromes:

Name: Fgfr-Related Craniosynostosis Syndromes 24
Acrocephalosyndactyly 24 6

Characteristics:

GeneReviews:

24
Penetrance Fgfr-related coronal synostosis is usually autosomal dominant with reduced penetrance...

Summaries for Fgfr-Related Craniosynostosis Syndromes

MalaCards based summary : Fgfr-Related Craniosynostosis Syndromes, also known as acrocephalosyndactyly, is related to saethre-chotzen syndrome and apert syndrome. An important gene associated with Fgfr-Related Craniosynostosis Syndromes is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include skin, kidney and spleen, and related phenotypes are multicystic kidney dysplasia and turricephaly

GeneReviews: NBK1455

Related Diseases for Fgfr-Related Craniosynostosis Syndromes

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

# Related Disease Score Top Affiliating Genes
1 saethre-chotzen syndrome 12.0
2 apert syndrome 11.9
3 pfeiffer syndrome 11.7
4 carpenter syndrome 1 11.1
5 robinow-sorauf syndrome 11.0
6 summitt syndrome 11.0
7 craniosynostosis 10.2

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

Human phenotypes related to Fgfr-Related Craniosynostosis Syndromes:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 multicystic kidney dysplasia 32 hallmark (90%) HP:0000003
2 turricephaly 32 hallmark (90%) HP:0000262
3 short neck 32 hallmark (90%) HP:0000470
4 thickened nuchal skin fold 32 hallmark (90%) HP:0000474
5 hemangioma 32 occasional (7.5%) HP:0001028
6 thickened skin 32 hallmark (90%) HP:0001072
7 biliary tract abnormality 32 hallmark (90%) HP:0001080
8 craniosynostosis 32 hallmark (90%) HP:0001363
9 obesity 32 hallmark (90%) HP:0001513
10 omphalocele 32 hallmark (90%) HP:0001539
11 abnormality of the spleen 32 frequent (33%) HP:0001743
12 pulmonary hypoplasia 32 hallmark (90%) HP:0002089
13 hepatomegaly 32 hallmark (90%) HP:0002240

MGI Mouse Phenotypes related to Fgfr-Related Craniosynostosis Syndromes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 FGFR2 RHBDF1

Drugs & Therapeutics for Fgfr-Related Craniosynostosis Syndromes

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

Genetic Tests for Fgfr-Related Craniosynostosis Syndromes

Anatomical Context for Fgfr-Related Craniosynostosis Syndromes

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

41
Skin, Kidney, Spleen

Publications for Fgfr-Related Craniosynostosis Syndromes

Articles related to Fgfr-Related Craniosynostosis Syndromes:

# Title Authors Year
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

ClinVar genetic disease variations for Fgfr-Related Craniosynostosis Syndromes:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic rs79184941 GRCh37 Chromosome 10, 123279677: 123279677
2 FGFR2 NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic rs79184941 GRCh38 Chromosome 10, 121520163: 121520163

Expression for Fgfr-Related Craniosynostosis Syndromes

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

Pathways for Fgfr-Related Craniosynostosis Syndromes

GO Terms for Fgfr-Related Craniosynostosis Syndromes

Sources for Fgfr-Related Craniosynostosis Syndromes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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