Aliases & Classifications for Fgfr-Related Craniosynostosis Syndromes

MalaCards integrated aliases for Fgfr-Related Craniosynostosis Syndromes:

Name: Fgfr-Related Craniosynostosis Syndromes 23
Acrocephalosyndactyly 23

Characteristics:

GeneReviews:

23
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 pfeiffer syndrome and saethre-chotzen syndrome, and has symptoms including multicystic kidney dysplasia, turricephaly and short neck. An important gene associated with Fgfr-Related Craniosynostosis Syndromes is RHBDF1 (Rhomboid 5 Homolog 1). Affiliated tissues include skin, kidney and spleen.

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 pfeiffer syndrome 11.7
2 saethre-chotzen syndrome 11.6
3 apert syndrome 11.2
4 carpenter syndrome 1 11.1
5 robinow-sorauf syndrome 11.0
6 summitt syndrome 11.0
7 craniosynostosis 10.2
8 crouzon syndrome 9.8

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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 multicystic kidney dysplasia 31 hallmark (90%) HP:0000003
2 turricephaly 31 hallmark (90%) HP:0000262
3 short neck 31 hallmark (90%) HP:0000470
4 thickened nuchal skin fold 31 hallmark (90%) HP:0000474
5 hemangioma 31 occasional (7.5%) HP:0001028
6 thickened skin 31 hallmark (90%) HP:0001072
7 biliary tract abnormality 31 hallmark (90%) HP:0001080
8 craniosynostosis 31 hallmark (90%) HP:0001363
9 obesity 31 hallmark (90%) HP:0001513
10 omphalocele 31 hallmark (90%) HP:0001539
11 abnormality of the spleen 31 frequent (33%) HP:0001743
12 pulmonary hypoplasia 31 hallmark (90%) HP:0002089
13 hepatomegaly 31 hallmark (90%) HP:0002240

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:

38
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/Likely pathogenic rs79184941 GRCh37 Chromosome 10, 123279677: 123279677

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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