MCID: BRS002
MIFTS: 57

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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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 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 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, 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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Beare-Stevenson Cutis Gyrata Syndrome, Aliases & Descriptions:

Name: Beare-Stevenson Cutis Gyrata Syndrome 8 9 65 42 21 46 10 44 48
Cutis Gyrata Syndrome of Beare and Stevenson 42 22 21 62
Cutis Gyrata Syndrome of Beare-Stevenson 65 21 62
 
Beare Stevenson Syndrome 42 20
Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis 48
Beare-Stevenson Syndrome 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
beare-stevenson cutis gyrata syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


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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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

Symptoms:

48 (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

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

(show all 56)
id Description Frequency HPO Source Accession
1 dolichocephaly hallmark (90%) HP:0000268
2 malar flattening hallmark (90%) HP:0000272
3 hearing abnormality hallmark (90%) HP:0000364
4 macrotia hallmark (90%) HP:0000400
5 choanal atresia hallmark (90%) HP:0000453
6 downslanted palpebral fissures hallmark (90%) HP:0000494
7 ptosis hallmark (90%) HP:0000508
8 proptosis hallmark (90%) HP:0000520
9 acanthosis nigricans hallmark (90%) HP:0000956
10 palmoplantar keratoderma hallmark (90%) HP:0000982
11 melanocytic nevus hallmark (90%) HP:0000995
12 abnormality of the pancreas hallmark (90%) HP:0001732
13 respiratory insufficiency hallmark (90%) HP:0002093
14 depressed nasal bridge hallmark (90%) HP:0005280
15 reduced number of teeth hallmark (90%) HP:0009804
16 aplasia/hypoplasia of the earlobes hallmark (90%) HP:0009906
17 cheekbone underdevelopment hallmark (90%) HP:0010669
18 visceral angiomatosis hallmark (90%) HP:0100761
19 bifid scrotum typical (50%) HP:0000048
20 craniosynostosis typical (50%) HP:0001363
21 cryptorchidism occasional (7.5%) HP:0000028
22 narrow mouth occasional (7.5%) HP:0000160
23 cleft palate occasional (7.5%) HP:0000175
24 hydrocephalus occasional (7.5%) HP:0000238
25 hypertelorism occasional (7.5%) HP:0000316
26 thickened helices occasional (7.5%) HP:0000391
27 anteverted nares occasional (7.5%) HP:0000463
28 optic atrophy occasional (7.5%) HP:0000648
29 hypertension occasional (7.5%) HP:0000822
30 umbilical hernia occasional (7.5%) HP:0001537
31 abnormality of the nail occasional (7.5%) HP:0001597
32 ectopic anus occasional (7.5%) HP:0004397
33 autosomal dominant inheritance HP:0000006
34 bifid scrotum HP:0000048
35 narrow palate HP:0000189
36 hydrocephalus HP:0000238
37 malar flattening HP:0000272
38 hypertelorism HP:0000316
39 low-set, posteriorly rotated ears HP:0000368
40 choanal stenosis HP:0000452
41 choanal atresia HP:0000453
42 downslanted palpebral fissures HP:0000494
43 proptosis HP:0000520
44 acanthosis nigricans HP:0000956
45 global developmental delay HP:0001263
46 agenesis of corpus callosum HP:0001274
47 craniosynostosis HP:0001363
48 limited elbow extension HP:0001377
49 anteriorly placed anus HP:0001545
50 small nail HP:0001792
51 respiratory distress HP:0002098
52 cloverleaf skull HP:0002676
53 prominent scrotal raphe HP:0003246
54 preauricular skin furrow HP:0004450
55 palmoplantar cutis laxa HP:0007517
56 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:

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

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:

36
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:

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:

6
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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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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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 pathway37
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 Glioblastoma37
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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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
4su5402449.3FGFR2, FGFR3
5pd 17307444 6110.3FGFR3, FGFR2
6palifermin44 1110.2FGFR3, FGFR2
7ponatinib50 1110.2FGFR3, FGFR2
8thalidomide44 50 61 1112.2FGFR2, FGFR3
9sulfate44 2410.1FGFR3, FGFR2
10guanine44 24 1111.1FGFR3, FGFR2
11phenylalanine449.0FGFR2, FGFR3
12paraffin449.0FGFR3, FGFR2
13phosphotyrosine448.9FGFR3, FGFR2
14doxorubicin44 50 1110.7FGFR3, 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/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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25ICD10
26ICD10 via Orphanet
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35MESH via Orphanet
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47OMIM via Orphanet
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58SNOMED-CT via Orphanet
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