MCID: BRS002
MIFTS: 55

Beare-Stevenson Cutis Gyrata Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Beare-Stevenson Cutis Gyrata Syndrome

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21Genetics Home Reference, 47OMIM, 33MalaCards
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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: 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 choanal atresia, small/hypoplastic/adherent/absent ear lobe and visceral angiomatosis (excluding skin). An important gene associated with Beare-Stevenson Cutis Gyrata Syndrome is FGFR2 (fibroblast growth factor receptor 2), and among its related pathways are MAPK signaling pathway and Actin Nucleation by ARP-WASP Complex. The compounds su 5402 and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and bone, and related mouse phenotypes are limbs/digits/tail and integument.

Description from OMIM:47 123790

Aliases & Classifications for Beare-Stevenson Cutis Gyrata Syndrome

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8Disease Ontology, 9diseasecard, 65Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 22GTR, 62UMLS, 20GeneTests, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
beare-stevenson cutis gyrata syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

beare-stevenson cutis gyrata syndrome 8 9 65 43 21 47 10 45 49
cutis gyrata syndrome of beare and stevenson 43 22 21 62
cutis gyrata syndrome of beare-stevenson 65 21
beare stevenson syndrome 43 20
cutis gyrata - acanthosis nigricans - craniosynostosis 49


External Ids:

Disease Ontology8 DOID:0050660
OMIM47 123790
ICD10 via Orphanet26 Q87.8

Related Diseases for Beare-Stevenson Cutis Gyrata Syndrome

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

123790

Clinical features from OMIM:

123790

Symptoms:

49 (show all 42)
  • choanal atresia
  • small/hypoplastic/adherent/absent ear lobe
  • visceral angiomatosis (excluding skin)
  • depressed premaxillary region/midface
  • face/facial anomalies
  • structural anomalies of the pancreas
  • skull/cranial anomalies
  • bifid scrotum
  • craniostenosis/craniosynostosis/sutural synostosis
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • anodontia/oligodontia/hypodontia
  • proptosis/exophthalmos
  • acanthosis nigricans
  • anus ectopia/anteposition/malposition
  • turricephaly/oxycephaly/acrocephaly
  • helix thickened/sculpted
  • horizontal folds on scrotum
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • microstomia/little mouth
  • long/large ear
  • depressed nasal bridge
  • hydrocephaly
  • chronic arterial hypertension
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • pigmented naevi/naevus pigmentosus/lentigo
  • high vaulted/narrow palate
  • autosomal dominant inheritance
  • ptosis
  • flat cheek bones/malar hypoplasia
  • anomalies of skin, subcutaneous tissue and mucosae
  • umbilical hernia
  • anomalies of ear and hearing
  • palmoplantar hyperkeratosis/keratoderma
  • dolichocephaly/scaphocephaly
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • mid-facial hypoplasia/short/small midface
  • nails anomalies
  • anomalies of eyes and vision
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • anteverted nares/nostrils
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • hypertelorism

Drugs & Therapeutics for Beare-Stevenson Cutis Gyrata Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Beare-Stevenson Cutis Gyrata Syndrome:

33
Skin, Testes, Bone, Pancreas, Eye, Lung

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

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37MGI
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MGI Mouse Phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:

37
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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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Beare-Stevenson Cutis Gyrata Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FGFR2p.Ser372CysVAR_017274
2FGFR2p.Tyr375CysVAR_017275

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

1
id Gene Name 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

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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50PathCards, 30KEGG, 38NCBI BioSystems Database, 53QIAGEN, 55Reactome, 60Thomson Reuters, 51PharmGKB, 57SinoBiological, 54R&D Systems, 61Tocris Bioscience, 5Cell Signaling Technology
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Pathways related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
MAPK signaling pathway38
9.0FGFR3, FGFR2
2
Show member pathways
9.0FGFR3, FGFR2
3
Show member pathways
9.0FGFR2, FGFR3
4
Show member pathways
9.0FGFR3, FGFR2
5
Show member pathways
9.0FGFR3, FGFR2
6
Show member pathways
9.0FGFR3, FGFR2
7
Show member pathways
9.0FGFR2, FGFR3
8
Show member pathways
9.0FGFR3, FGFR2
9
Show member pathways
9.0FGFR3, FGFR2
10
Show member pathways
9.0FGFR3, FGFR2
119.0FGFR3, FGFR2
12
Show member pathways
9.0FGFR2, FGFR3
139.0FGFR3, FGFR2
14
Show member pathways
9.0FGFR2, FGFR3
159.0FGFR3, FGFR2
16
Show member pathways
9.0FGFR3, FGFR2
179.0FGFR3, FGFR2
18
Show member pathways
9.0FGFR2, FGFR3
19
Show member pathways
9.0FGFR3, FGFR2
20
Show member pathways
9.0FGFR3, FGFR2
219.0FGFR3, FGFR2
229.0FGFR2, FGFR3
23
Show member pathways
9.0FGFR2, FGFR3
24
Show member pathways
Signaling Pathways in Glioblastoma38
9.0FGFR3, FGFR2
25
Show member pathways
9.0FGFR3, FGFR2
26
Show member pathways
9.0FGFR3, FGFR2
279.0FGFR3, FGFR2
289.0FGFR3, FGFR2

Compounds for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

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61Tocris Bioscience, 45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB
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Compounds related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1su 5402619.3FGFR3, FGFR2
2fiin 1 hydrochloride619.3FGFR3, FGFR2
3pd 161570619.3FGFR3, FGFR2
4su5402459.3FGFR2, FGFR3
5pd 17307445 6110.3FGFR3, FGFR2
6palifermin45 1110.2FGFR3, FGFR2
7ponatinib51 1110.2FGFR3, FGFR2
8thalidomide45 51 61 1112.2FGFR2, FGFR3
9sulfate45 2410.1FGFR3, FGFR2
10guanine45 24 1111.1FGFR3, FGFR2
11phenylalanine459.0FGFR2, FGFR3
12paraffin459.0FGFR3, FGFR2
13phosphotyrosine458.9FGFR3, FGFR2
14doxorubicin45 51 1110.7FGFR3, FGFR2

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

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16Gene Ontology
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Cellular components related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.0FGFR3, FGFR2
2cytoplasmic membrane-bounded vesicleGO:0160238.7FGFR3, FGFR2

Biological processes related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1regulation of smoothened signaling pathwayGO:0085899.6FGFR2, RAB23
2positive regulation of phospholipase activityGO:0105189.4FGFR3, FGFR2
3lens fiber cell developmentGO:0703079.3FGFR3, FGFR2
4negative regulation of mitosisGO:0458399.3FGFR3, FGFR2
5bone morphogenesisGO:0603499.3FGFR2, FGFR3
6negative regulation of epithelial cell proliferationGO:0506809.3FGFR3, FGFR2
7positive regulation of canonical Wnt signaling pathwayGO:0902639.3FGFR3, FGFR2
8positive regulation of MAPK cascadeGO:0434109.3FGFR2, FGFR3
9peptidyl-tyrosine phosphorylationGO:0181089.3FGFR3, FGFR2
10positive regulation of ERK1 and ERK2 cascadeGO:0703749.2FGFR2, FGFR3
11phosphatidylinositol-mediated signalingGO:0480159.2FGFR3, FGFR2
12insulin receptor signaling pathwayGO:0082869.2FGFR3, FGFR2
13protein autophosphorylationGO:0467779.1FGFR3, FGFR2
14fibroblast growth factor receptor signaling pathwayGO:0085439.1FGFR2, FGFR3
15Fc-epsilon receptor signaling pathwayGO:0380959.0FGFR3, FGFR2
16neurotrophin TRK receptor signaling pathwayGO:0480119.0FGFR3, FGFR2
17epidermal growth factor receptor signaling pathwayGO:0071738.9FGFR3, FGFR2
18cell-cell signalingGO:0072678.7FGFR3, FGFR2

Molecular functions related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:0047139.0FGFR3, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050078.9FGFR3, FGFR2
3fibroblast growth factor bindingGO:0171348.7FGFR3, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet