MCID: BRS002
MIFTS: 45

Beare-Stevenson Cutis Gyrata Syndrome malady

Bone, Skin, Fetal categories

Summaries for Beare-Stevenson Cutis Gyrata Syndrome

Sources:
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 skull/cranial anomalies, turricephaly/oxycephaly/acrocephaly and dolichocephaly/scaphocephaly. An important gene associated with Beare-Stevenson Cutis Gyrata Syndrome is FGFR2 (fibroblast growth factor receptor 2), and among its related pathways are Glioma and PIP3 activates AKT signaling. The compounds su 5402 and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are limbs/digits/tail and integument.

Description from OMIM:47 123790

Aliases & Classifications for Beare-Stevenson Cutis Gyrata Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 22GTR, 61UMLS, 20GeneTests, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone, Skin


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 64 43 21 47 10 45 49
cutis gyrata syndrome of beare and stevenson 43 22 21 61
cutis gyrata syndrome of beare-stevenson 64 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

Sources:
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

Clinical Features for Beare-Stevenson Cutis Gyrata Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

123790

Clinical synopsis from OMIM:

123790

Symptoms:

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

Drugs & Therapeutics for Beare-Stevenson Cutis Gyrata Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Beare-Stevenson Cutis Gyrata Syndrome

Drug clinical trials:

Search ClinicalTrials for Beare-Stevenson Cutis Gyrata Syndrome

Search NIH Clinical Center for Beare-Stevenson Cutis Gyrata Syndrome

Search CenterWatch for Beare-Stevenson Cutis Gyrata Syndrome

Genetic Tests for Beare-Stevenson Cutis Gyrata Syndrome

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Beare-Stevenson Cutis Gyrata Syndrome:

33
Skin

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5RAB23, FGFR2, FGFR3
2MP:00107718.5FGFR2, FGFR3, RAB23
3MP:00053918.4FGFR3, RAB23, FGFR2
4MP:00053908.2FGFR2, FGFR3, RAB23

Publications for Beare-Stevenson Cutis Gyrata Syndrome

Sources:
51PubMed
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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

Genetic Variations for Beare-Stevenson Cutis Gyrata Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Beare-Stevenson Cutis Gyrata Syndrome:

63
id Symbol AA change Variation SNP ID
1FGFR2p.Ser372CysVAR_017274
2FGFR2p.Tyr375CysVAR_017275

Expression for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 60Tocris Bioscience, 12EMD Millipore, 50PharmGKB, 53R&D Systems, 4Cell Signaling Technology
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Pathways related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.0FGFR2, FGFR3
2
Hide members
9.0FGFR3, FGFR2
3
Hide members
9.0FGFR2, FGFR3
4
Hide members
9.0FGFR3, FGFR2
59.0FGFR3, FGFR2
6
Hide members
9.0FGFR3, FGFR2
7
Hide members
9.0FGFR3, FGFR2
8
Hide members
9.0FGFR3, FGFR2
9
Hide members
9.0FGFR2, FGFR3
10
Hide members
9.0FGFR3, FGFR2
11
Development FGF-family signaling
Hide members
9.0FGFR2, FGFR3
129.0FGFR3, FGFR2
13
Hide members
9.0FGFR3, FGFR2
14
Hide members
9.0FGFR2, FGFR3
15
Hide members
9.0FGFR3, FGFR2
169.0FGFR2, FGFR3
179.0FGFR3, FGFR2
189.0FGFR3, FGFR2
19
Hide members
9.0FGFR2, FGFR3
209.0FGFR3, FGFR2
219.0FGFR3, FGFR2

Compounds for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB
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Compounds related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1su 5402609.3FGFR3, FGFR2
2fiin 1 hydrochloride609.3FGFR3, FGFR2
3pd 161570609.3FGFR3, FGFR2
4su5402459.2FGFR2, FGFR3
5pd 17307445 6010.2FGFR3, FGFR2
6palifermin45 1110.2FGFR3, FGFR2
7Ponatinib 119.1FGFR2, FGFR3
8thalidomide45 50 60 1112.1FGFR3, FGFR2
9sulfate45 2410.0FGFR3, FGFR2
10phosphotyrosine459.0FGFR3, FGFR2
11guanine45 11 2410.9FGFR2, FGFR3
12phenylalanine458.7FGFR3, FGFR2

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

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.0FGFR3, FGFR2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1regulation of smoothened signaling pathwayGO:0085899.6FGFR2, RAB23
2positive regulation of phospholipase activityGO:0105189.3FGFR3, FGFR2
3negative regulation of mitosisGO:0458399.3FGFR3, FGFR2
4lens fiber cell developmentGO:0703079.3FGFR3, FGFR2
5bone morphogenesisGO:0603499.3FGFR3, FGFR2
6positive regulation of canonical Wnt receptor signaling pathwayGO:0902639.3FGFR3, FGFR2
7peptidyl-tyrosine phosphorylationGO:0181089.2FGFR3, FGFR2
8positive regulation of MAPK cascadeGO:0434109.2FGFR2, FGFR3
9positive regulation of ERK1 and ERK2 cascadeGO:0703749.2FGFR3, FGFR2
10phosphatidylinositol-mediated signalingGO:0480159.1FGFR3, FGFR2
11insulin receptor signaling pathwayGO:0082869.1FGFR3, FGFR2
12protein autophosphorylationGO:0467779.0FGFR2, FGFR3
13epidermal growth factor receptor signaling pathwayGO:0071739.0FGFR3, FGFR2
14fibroblast growth factor receptor signaling pathwayGO:0085438.9FGFR3, FGFR2
15Fc-epsilon receptor signaling pathwayGO:0380958.7FGFR3, 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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Beare-Stevenson Cutis Gyrata Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet