MCID: BRS002
MIFTS: 47

Beare-Stevenson Cutis Gyrata Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Beare-Stevenson Cutis Gyrata Syndrome

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Aliases & Descriptions for Beare-Stevenson Cutis Gyrata Syndrome:

Name: Beare-Stevenson Cutis Gyrata Syndrome 51 11 70 47 25 53 69 12 49 13
Cutis Gyrata Syndrome of Beare and Stevenson 47 25 69 26 67
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome 47 53
Cutis Gyrata Syndrome of Beare-Stevenson 70 25
Beare-Stevenson Syndrome 24 69
 
Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis 47
Beare Stevenson Syndrome 47
Cutis Gyrata Syndrome 24
Bstvs 69

Characteristics:

Orphanet epidemiological data:

53
beare-stevenson cutis gyrata syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

63
beare-stevenson cutis gyrata syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 123790
Disease Ontology11 DOID:0050660
Orphanet53 ORPHA1555
ICD10 via Orphanet30 Q87.8
MedGen36 C1852406

Summaries for Beare-Stevenson Cutis Gyrata Syndrome

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NIH Rare Diseases:47 Beare-Stevenson  cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) 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. Beare-Stevenson cutis gyrata syndrome is caused by mutations in the FGFR2 gene. It is inherited in an autosomal dominant pattern, although all reported cases have resulted from new mutations in the gene and occurred in people with no history of the disorder in their family. Last updated: 3/26/2015

MalaCards based summary: Beare-Stevenson Cutis Gyrata Syndrome, also known as cutis gyrata syndrome of beare and stevenson, is related to cervicitis and chiari malformation, and has symptoms including dolichocephaly, malar flattening and hearing abnormality. An important gene associated with Beare-Stevenson Cutis Gyrata Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways are Cytoskeleton remodeling_RalB regulation pathway and MAPK Signaling: Mitogen Stimulation Pathway. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are limbs/digits/tail and vision/eye.

Genetics Home Reference:25 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.

UniProtKB/Swiss-Prot:69 Beare-Stevenson cutis gyrata syndrome: An autosomal dominant disease characterized by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet.

Description from OMIM:51 123790

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

Human phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome:

 63 53 (show all 53)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dolichocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000268
2 malar flattening63 53 hallmark (90%) Very frequent (99-80%) HP:0000272
3 hearing abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0000364
4 macrotia63 53 hallmark (90%) Very frequent (99-80%) HP:0000400
5 choanal atresia63 53 hallmark (90%) Very frequent (99-80%) HP:0000453
6 downslanted palpebral fissures63 53 hallmark (90%) Very frequent (99-80%) HP:0000494
7 ptosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000508
8 proptosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000520
9 acanthosis nigricans63 53 hallmark (90%) Very frequent (99-80%) HP:0000956
10 palmoplantar keratoderma63 53 hallmark (90%) Very frequent (99-80%) HP:0000982
11 melanocytic nevus63 53 hallmark (90%) Very frequent (99-80%) HP:0000995
12 abnormality of the pancreas63 53 hallmark (90%) Very frequent (99-80%) HP:0001732
13 respiratory insufficiency63 hallmark (90%) HP:0002093
14 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
15 reduced number of teeth63 53 hallmark (90%) Very frequent (99-80%) HP:0009804
16 aplasia/hypoplasia of the earlobes63 53 hallmark (90%) Very frequent (99-80%) HP:0009906
17 hypoplasia of the zygomatic bone63 hallmark (90%) HP:0010669
18 visceral angiomatosis63 53 hallmark (90%) Very frequent (99-80%) HP:0100761
19 bifid scrotum63 53 typical (50%) Frequent (79-30%) HP:0000048
20 craniosynostosis63 53 typical (50%) Frequent (79-30%) HP:0001363
21 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
22 narrow mouth63 53 occasional (7.5%) Occasional (29-5%) HP:0000160
23 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
24 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
25 hypertelorism63 53 occasional (7.5%) Occasional (29-5%) HP:0000316
26 thickened helices63 53 occasional (7.5%) Occasional (29-5%) HP:0000391
27 anteverted nares63 53 occasional (7.5%) Occasional (29-5%) HP:0000463
28 optic atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0000648
29 hypertension63 53 occasional (7.5%) Occasional (29-5%) HP:0000822
30 umbilical hernia63 53 occasional (7.5%) Occasional (29-5%) HP:0001537
31 abnormality of the nail63 53 occasional (7.5%) Occasional (29-5%) HP:0001597
32 narrow palate63 53 Frequent (79-30%) HP:0000189
33 low-set, posteriorly rotated ears63 HP:0000368
34 choanal stenosis63 HP:0000452
35 global developmental delay63 HP:0001263
36 agenesis of corpus callosum63 HP:0001274
37 limited elbow extension63 HP:0001377
38 anteriorly placed anus63 53 Occasional (29-5%) HP:0001545
39 small nail63 HP:0001792
40 respiratory distress63 53 Very frequent (99-80%) HP:0002098
41 cloverleaf skull63 53 Very frequent (99-80%) HP:0002676
42 prominent scrotal raphe63 53 Frequent (79-30%) HP:0003246
43 preauricular skin furrow63 53 Very frequent (99-80%) HP:0004450
44 palmoplantar cutis laxa63 HP:0007517
45 midface retrusion63 53 Very frequent (99-80%) HP:0011800
46 turricephaly53 Very frequent (99-80%)
47 abnormality of the face53 Very frequent (99-80%)
48 abnormality of the eye53 Occasional (29-5%)
49 abnormality of vision53 Occasional (29-5%)
50 abnormality of the skull53 Very frequent (99-80%)
51 subcutaneous nodule53 Very frequent (99-80%)
52 palmoplantar cutis gyrata53 Very frequent (99-80%)
53 cheekbone underdevelopment53 Very frequent (99-80%)

UMLS symptoms related to Beare-Stevenson Cutis Gyrata Syndrome:


respiratory distress

Drugs & Therapeutics for Beare-Stevenson Cutis Gyrata Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Cutis Gyrata Syndrome of Beare and Stevenson26
2 Beare-Stevenson Syndrome24 FGFR2

Anatomical Context for Beare-Stevenson Cutis Gyrata Syndrome

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

35
Skin, Bone, Eye, 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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2FGFR2, FGFR3, RAB23
2MP:00053918.5FGFR2, FGFR3, RAB23

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:

69
id Symbol AA change Variation ID SNP ID
1FGFR2p.Ser372CysVAR_017274rs121913477
2FGFR2p.Tyr375CysVAR_017275rs121913478

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys)SNVPathogenicrs121913478GRCh37Chr 10, 123274794: 123274794
2FGFR2NM_000141.4(FGFR2): c.1115C> G (p.Ser372Cys)SNVPathogenicrs121913477GRCh37Chr 10, 123274803: 123274803
3FGFR2NG_012449.2: g.83400_83462deldeletionPathogenicChr na, -1: -1

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

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.9FGFR2, FGFR3
2phosphatidylinositol phosphorylationGO:00468549.8FGFR2, FGFR3
3regulation of phosphatidylinositol 3-kinase signalingGO:00140669.8FGFR2, FGFR3
4phosphatidylinositol-mediated signalingGO:00480159.8FGFR2, FGFR3
5fibroblast growth factor receptor signaling pathwayGO:00085439.7FGFR2, FGFR3
6bone mineralizationGO:00302829.7FGFR2, FGFR3
7positive regulation of phospholipase activityGO:00105189.7FGFR2, FGFR3
8peptidyl-tyrosine phosphorylationGO:00181089.6FGFR2, FGFR3
9protein autophosphorylationGO:00467779.5FGFR2, FGFR3
10bone morphogenesisGO:00603499.5FGFR2, FGFR3
11positive regulation of MAPK cascadeGO:00434109.4FGFR2, FGFR3
12positive regulation of ERK1 and ERK2 cascadeGO:00703749.3FGFR2, FGFR3
13MAPK cascadeGO:00001659.0FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.9FGFR2, FGFR3
21-phosphatidylinositol-3-kinase activityGO:00163039.8FGFR2, FGFR3
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.7FGFR2, FGFR3
4fibroblast growth factor bindingGO:00171349.4FGFR2, FGFR3
5Ras guanyl-nucleotide exchange factor activityGO:00050889.3FGFR2, FGFR3
6protein tyrosine kinase activityGO:00047139.0FGFR2, FGFR3

Sources for Beare-Stevenson Cutis Gyrata Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet