MCID: BRS002
MIFTS: 56

Beare-Stevenson Cutis Gyrata Syndrome malady

Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Beare-Stevenson Cutis Gyrata Syndrome

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21Genetics Home Reference, 46OMIM, 32MalaCards
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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 optic nerve anomaly/optic atrophy/anomaly of the papilla, anomalies of eyes and vision and hypertelorism. 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, bone and testes, and related mouse phenotypes are limbs/digits/tail and integument.

Description from OMIM:46 123790

Aliases & Classifications for Beare-Stevenson Cutis Gyrata Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 60UMLS, 20GeneTests, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 63 42 21 46 10 44 48
cutis gyrata syndrome of beare and stevenson 42 22 21 60
cutis gyrata syndrome of beare-stevenson 63 21
beare stevenson syndrome 42 20
cutis gyrata - acanthosis nigricans - craniosynostosis 48


External Ids:

Disease Ontology8 DOID:0050660
OMIM46 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

Clinical Features for Beare-Stevenson Cutis Gyrata Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

123790

Clinical synopsis from OMIM:

123790

Symptoms:

48 (show all 42)
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • anomalies of eyes and vision
  • hypertelorism
  • bifid scrotum
  • horizontal folds on scrotum
  • high vaulted/narrow palate
  • craniostenosis/craniosynostosis/sutural synostosis
  • 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
  • autosomal dominant inheritance
  • visceral angiomatosis (excluding skin)
  • depressed nasal bridge
  • ptosis
  • flat cheek bones/malar hypoplasia
  • depressed premaxillary region/midface
  • mid-facial hypoplasia/short/small midface
  • proptosis/exophthalmos
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • face/facial anomalies
  • dolichocephaly/scaphocephaly
  • turricephaly/oxycephaly/acrocephaly
  • choanal atresia
  • anodontia/oligodontia/hypodontia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • structural anomalies of the pancreas
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • acanthosis nigricans
  • pigmented naevi/naevus pigmentosus/lentigo
  • palmoplantar hyperkeratosis/keratoderma
  • anomalies of skin, subcutaneous tissue and mucosae
  • small/hypoplastic/adherent/absent ear lobe
  • long/large ear
  • anomalies of ear and hearing
  • skull/cranial anomalies

Drugs & Therapeutics for Beare-Stevenson Cutis Gyrata Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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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32MalaCards
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MalaCards organs/tissues related to Beare-Stevenson Cutis Gyrata Syndrome:

32
Skin, Bone, Testes, Pancreas, Lung, Eye

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

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36MGI
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MGI Mouse Phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5RAB23, FGFR3, FGFR2
2MP:00107718.5RAB23, FGFR3, FGFR2
3MP:00053918.4RAB23, FGFR3, FGFR2
4MP:00053908.2FGFR2, FGFR3, RAB23

Publications for Beare-Stevenson Cutis Gyrata Syndrome

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50PubMed
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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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Beare-Stevenson Cutis Gyrata Syndrome:

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

Expression for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

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1BioGPS, 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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Sources:
29KEGG, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 59Tocris Bioscience, 12EMD Millipore, 49PharmGKB, 52R&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
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9.0FGFR3, FGFR2
3
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9.0FGFR2, FGFR3
4
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9.0FGFR3, FGFR2
59.0FGFR3, FGFR2
6
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9.0FGFR3, FGFR2
7
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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

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59Tocris Bioscience, 44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1su 5402599.3FGFR3, FGFR2
2fiin 1 hydrochloride599.3FGFR3, FGFR2
3pd 161570599.3FGFR3, FGFR2
4su5402449.2FGFR2, FGFR3
5pd 17307444 5910.2FGFR3, FGFR2
6palifermin44 1110.2FGFR3, FGFR2
7Ponatinib 119.1FGFR2, FGFR3
8thalidomide44 49 59 1112.1FGFR3, FGFR2
9sulfate44 2410.0FGFR3, FGFR2
10phosphotyrosine449.0FGFR3, FGFR2
11guanine44 11 2410.9FGFR2, FGFR3
12phenylalanine448.7FGFR3, 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
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

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Sources for Beare-Stevenson Cutis Gyrata Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet