MCID: BRS002
MIFTS: 45

Beare-Stevenson Cutis Gyrata Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Beare-Stevenson Cutis Gyrata Syndrome

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Genetics Home Reference:21 Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

MalaCards based summary: Beare-Stevenson Cutis Gyrata Syndrome, also known as cutis gyrata syndrome of beare and stevenson, is related to fgfr-related craniosynostosis syndromes and synostosis, and has symptoms including autosomal dominant inheritance, bifid scrotum and narrow palate. An important gene associated with Beare-Stevenson Cutis Gyrata Syndrome is FGFR2 (fibroblast growth factor receptor 2), and among its related pathways are NF-KappaB Family Pathway and Pathways in cancer. The compounds su 5402 and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related mouse phenotypes are limbs/digits/tail and integument.

Description from OMIM:45 123790

Aliases & Classifications for Beare-Stevenson Cutis Gyrata Syndrome

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Beare-Stevenson Cutis Gyrata Syndrome, Aliases & Descriptions:

Name: Beare-Stevenson Cutis Gyrata Syndrome 45 9 10 63 41 21 11 43
Cutis Gyrata Syndrome of Beare and Stevenson 41 21 22 60
 
Cutis Gyrata Syndrome of Beare-Stevenson 63 21
Beare Stevenson Syndrome 41 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 123790
Disease Ontology9 DOID:0050660

Related Diseases for Beare-Stevenson Cutis Gyrata Syndrome

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Graphical network of the top 20 diseases related to Beare-Stevenson Cutis Gyrata Syndrome:



Diseases related to beare-stevenson cutis gyrata syndrome

Symptoms for Beare-Stevenson Cutis Gyrata Syndrome

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Symptoms by clinical synopsis from OMIM:

123790

Clinical features from OMIM:

123790

HPO human phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:

(show all 24)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 bifid scrotum HP:0000048
3 narrow palate HP:0000189
4 hydrocephalus HP:0000238
5 malar flattening HP:0000272
6 hypertelorism HP:0000316
7 low-set, posteriorly rotated ears HP:0000368
8 choanal stenosis HP:0000452
9 choanal atresia HP:0000453
10 downslanted palpebral fissures HP:0000494
11 proptosis HP:0000520
12 acanthosis nigricans HP:0000956
13 global developmental delay HP:0001263
14 agenesis of corpus callosum HP:0001274
15 craniosynostosis HP:0001363
16 limited elbow extension HP:0001377
17 anteriorly placed anus HP:0001545
18 small nail HP:0001792
19 respiratory distress HP:0002098
20 cloverleaf skull HP:0002676
21 prominent scrotal raphe HP:0003246
22 preauricular skin furrow HP:0004450
23 palmoplantar cutis laxa HP:0007517
24 midface retrusion HP:0011800

Drugs & Therapeutics for Beare-Stevenson Cutis Gyrata Syndrome

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Drug clinical trials:

Search ClinicalTrials for Beare-Stevenson Cutis Gyrata Syndrome

Search NIH Clinical Center for Beare-Stevenson Cutis Gyrata Syndrome

Genetic Tests for Beare-Stevenson Cutis Gyrata Syndrome

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Genetic tests related to Beare-Stevenson Cutis Gyrata Syndrome:

id Genetic test Affiliating Genes
1 Beare-Stevenson Syndrome20 FGFR2
2 Cutis Gyrata Syndrome of Beare and Stevenson22

Anatomical Context for Beare-Stevenson Cutis Gyrata Syndrome

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MalaCards organs/tissues related to Beare-Stevenson Cutis Gyrata Syndrome:

31
Skin, Bone

Animal Models for Beare-Stevenson Cutis Gyrata Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5FGFR3, FGFR2, RAB23
2MP:00107718.5FGFR3, FGFR2, RAB23
3MP:00053918.4FGFR3, FGFR2, RAB23
4MP:00053908.2RAB23, FGFR2, FGFR3

Publications for Beare-Stevenson Cutis Gyrata Syndrome

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Articles related to Beare-Stevenson Cutis Gyrata Syndrome:

idTitleAuthorsYear
1
Imaging findings of chronic subluxation of the os odontoideum and cervical myelopathy in a child with Beare-Stevenson cutis gyrata syndrome after surgery to the head and neck. (19816645)
2009
2
Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124Ca8^G (Y375C) mutation in the FGFR2 gene. (21479481)
2008
3
What syndrome is this? Beare-Stevenson cutis gyrata syndrome. (12869163)
2003
4
Mutation in the FGFR2 gene in a Taiwanese patient with Beare- Stevenson cutis gyrata syndrome. (12000365)
2002
5
A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene. (12145519)
2002
6
Beare-Stevenson cutis gyrata syndrome with Chiari malformation. (12181710)
2002
7
Prenatal sonographic appearance of Beare-Stevenson cutis gyrata syndrome: two- and three-dimensional ultrasonographic findings. (11536267)
2001
8
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. (8696350)
1996
9
Beare-Stevenson cutis gyrata syndrome. (1519658)
1992

Variations for Beare-Stevenson Cutis Gyrata Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Beare-Stevenson Cutis Gyrata Syndrome:

62
id Symbol AA change Variation ID SNP ID
1FGFR2p.Ser372CysVAR_017274
2FGFR2p.Tyr375CysVAR_017275

Clinvar genetic disease variations for Beare-Stevenson Cutis Gyrata Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys)single nucleotide variantPathogenicrs121913478GRCh37Chr 10, 123274794: 123274794
2FGFR2NM_000141.4(FGFR2): c.1115C> G (p.Ser372Cys)single nucleotide variantPathogenicrs121913477GRCh37Chr 10, 123274803: 123274803
3FGFR2FGFR2, 63-BP DEL, NT1506deletionPathogenic

Expression for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

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Search GEO for disease gene expression data for Beare-Stevenson Cutis Gyrata Syndrome.

Pathways for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

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Pathways related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3FGFR3, FGFR2
29.3FGFR3, FGFR2
3
Show member pathways
9.3FGFR3, FGFR2
4
Show member pathways
Signaling Pathways in Glioblastoma36
9.3FGFR3, FGFR2
59.3FGFR3, FGFR2
69.3FGFR3, FGFR2
7
Show member pathways
9.3FGFR3, FGFR2
8
Show member pathways
MAPK signaling pathway36
9.3FGFR3, FGFR2
9
Show member pathways
9.3FGFR3, FGFR2
109.3FGFR3, FGFR2
11
Show member pathways
9.3FGFR3, FGFR2
12
Show member pathways
9.3FGFR2, FGFR3
13
Show member pathways
9.3FGFR2, FGFR3
14
Show member pathways
9.3FGFR2, FGFR3
15
Show member pathways
9.3FGFR2, FGFR3
16
Show member pathways
9.3FGFR2, FGFR3
17
Show member pathways
9.3FGFR2, FGFR3
189.3FGFR2, FGFR3
199.3FGFR2, FGFR3
209.3FGFR2, FGFR3
21
Show member pathways
9.3FGFR2, FGFR3
22
Show member pathways
9.3FGFR2, FGFR3
23
Show member pathways
9.3FGFR2, FGFR3
24
Show member pathways
9.3FGFR2, FGFR3
25
Show member pathways
9.3FGFR2, FGFR3
26
Show member pathways
9.3FGFR2, FGFR3
279.3FGFR2, FGFR3
28
Show member pathways
9.3FGFR2, FGFR3

Compounds for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

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Compounds related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idCompoundScoreTop Affiliating Genes
1su 5402599.6FGFR3, FGFR2
2fiin 1 hydrochloride599.6FGFR3, FGFR2
3pd 161570599.6FGFR3, FGFR2
4su5402439.6FGFR2, FGFR3
5pd 17307443 5910.6FGFR3, FGFR2
6palifermin43 1210.5FGFR3, FGFR2
7ponatinib49 1210.5FGFR3, FGFR2
8thalidomide43 49 59 1212.5FGFR2, FGFR3
9sulfate43 2410.4FGFR3, FGFR2
10guanine43 24 1211.4FGFR3, FGFR2
11phenylalanine439.3FGFR2, FGFR3
12paraffin439.3FGFR3, FGFR2
13phosphotyrosine439.2FGFR3, FGFR2
14doxorubicin43 49 1211.0FGFR3, FGFR2

GO Terms for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

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Cellular components related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099869.3FGFR3, FGFR2
2cytoplasmic membrane-bounded vesicleGO:00160239.0FGFR3, FGFR2

Biological processes related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:00105189.7FGFR3, FGFR2
2lens fiber cell developmentGO:00703079.6FGFR2, FGFR3
3negative regulation of mitosisGO:00458399.6FGFR3, FGFR2
4bone morphogenesisGO:00603499.6FGFR2, FGFR3
5negative regulation of epithelial cell proliferationGO:00506809.6FGFR3, FGFR2
6positive regulation of canonical Wnt signaling pathwayGO:00902639.6FGFR3, FGFR2
7positive regulation of MAPK cascadeGO:00434109.6FGFR3, FGFR2
8peptidyl-tyrosine phosphorylationGO:00181089.6FGFR3, FGFR2
9positive regulation of ERK1 and ERK2 cascadeGO:00703749.5FGFR2, FGFR3
10phosphatidylinositol-mediated signalingGO:00480159.5FGFR3, FGFR2
11insulin receptor signaling pathwayGO:00082869.5FGFR2, FGFR3
12protein autophosphorylationGO:00467779.4FGFR2, FGFR3
13fibroblast growth factor receptor signaling pathwayGO:00085439.4FGFR2, FGFR3
14Fc-epsilon receptor signaling pathwayGO:00380959.3FGFR3, FGFR2
15neurotrophin TRK receptor signaling pathwayGO:00480119.3FGFR2, FGFR3
16regulation of smoothened signaling pathwayGO:00085899.3FGFR2, RAB23
17epidermal growth factor receptor signaling pathwayGO:00071739.2FGFR2, FGFR3
18cell-cell signalingGO:00072679.0FGFR2, FGFR3

Molecular functions related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:00047139.3FGFR3, FGFR2
2fibroblast growth factor-activated receptor activityGO:00050079.2FGFR3, FGFR2
3fibroblast growth factor bindingGO:00171349.0FGFR3, FGFR2

Products for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

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Sources for Beare-Stevenson Cutis Gyrata Syndrome

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