MCID: BRS002
MIFTS: 47

Beare-Stevenson Cutis Gyrata Syndrome malady

Genetic diseases, Rare diseases categories

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 49 10 11 68 45 23 47 12 67
Cutis Gyrata Syndrome of Beare and Stevenson 45 23 24 65 67
Cutis Gyrata Syndrome of Beare-Stevenson 68 23
Beare Stevenson Syndrome 45 22
 
Beare-Stevenson Syndrome 67
Cutis Gyrata Syndrome 22
Bstvs 67


Classifications:



External Ids:

OMIM49 123790
Disease Ontology10 DOID:0050660
MedGen34 C1852406

Summaries for Beare-Stevenson Cutis Gyrata Syndrome

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NIH Rare Diseases:45 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 Tyrosine Kinases / Adaptors and Negative regulation of FGFR3 signaling. Affiliated tissues include skin, bone and pancreas, and related mouse phenotypes are skeleton and limbs/digits/tail.

Genetics Home Reference:23 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:67 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:49 123790

Related Diseases for Beare-Stevenson Cutis Gyrata Syndrome

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Diseases related to Beare-Stevenson Cutis Gyrata Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1cervicitis10.6
2chiari malformation10.6
3cutis gyrata - acanthosis nigricans - craniosynostosis10.6
4craniosynostosis10.3
5dysostosis10.3
6synostosis10.3
7fgfr-related craniosynostosis syndromes10.3
8flna-related periventricular nodular heterotopia10.0FGFR2, FGFR3
9plagiocephaly and x-linked mental retardation10.0FGFR2, FGFR3
10osteoglophonic dysplasia10.0FGFR2, FGFR3
11von economo's disease10.0FGFR2, FGFR3
12muenke syndrome10.0FGFR2, FGFR3
13jackson-weiss syndrome10.0FGFR2, FGFR3
14barbiturate abuse10.0FGFR2, FGFR3
15neonatal abstinence syndrome10.0FGFR2, FGFR3
16testicular brenner tumor10.0FGFR2, FGFR3
17thanatophoric dysplasia, type i10.0FGFR2, FGFR3
18apert syndrome10.0FGFR2, FGFR3
19gonococcal iridocyclitis10.0FGFR2, FGFR3
20hypochondroplasia10.0FGFR2, FGFR3
21slc16a1-related hyperinsulinism10.0FGFR2, FGFR3
22multiple symmetrical lipomatosis10.0FGFR2, FGFR3
23crouzon syndrome10.0FGFR2, FGFR3
24central retinal artery occlusion10.0FGFR2, FGFR3
25yellow nail syndrome10.0FGFR2, FGFR3
26achondroplasia10.0FGFR2, FGFR3
27ladd syndrome10.0FGFR2, FGFR3
28saethre-chotzen syndrome9.9FGFR2, FGFR3
29pfeiffer syndrome9.9FGFR2, FGFR3
30syndromic intellectual disability9.9FGFR2, FGFR3
31critical limb ischemia9.9FGFR2, FGFR3
32constipation9.9FGFR2, FGFR3
33autosomal genetic disease9.8FGFR2, FGFR3
34dystonia9.7FGFR2, RAB23
35beare-stevenson cutis gyrata syndrome9.7FGFR2, FGFR3, RAB23
36acrodermatitis9.7FGFR2, FGFR3, RAB23
37synovitis9.7FGFR2, FGFR3, RAB23
38bone ewing's sarcoma9.7FGFR2, FGFR3, RAB23

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

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

(show all 55)
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 hypoplasia of the zygomatic bone 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 autosomal dominant inheritance HP:0000006
33 bifid scrotum HP:0000048
34 narrow palate HP:0000189
35 hydrocephalus HP:0000238
36 malar flattening HP:0000272
37 hypertelorism HP:0000316
38 low-set, posteriorly rotated ears HP:0000368
39 choanal stenosis HP:0000452
40 choanal atresia HP:0000453
41 downslanted palpebral fissures HP:0000494
42 proptosis HP:0000520
43 acanthosis nigricans HP:0000956
44 global developmental delay HP:0001263
45 agenesis of corpus callosum HP:0001274
46 craniosynostosis HP:0001363
47 limited elbow extension HP:0001377
48 anteriorly placed anus HP:0001545
49 small nail HP:0001792
50 respiratory distress HP:0002098
51 cloverleaf skull HP:0002676
52 prominent scrotal raphe HP:0003246
53 preauricular skin furrow HP:0004450
54 palmoplantar cutis laxa HP:0007517
55 hypoplasia of midface HP:0011800

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 Beare-Stevenson Syndrome22 FGFR2
2 Cutis Gyrata Syndrome of Beare and Stevenson24

Anatomical Context for Beare-Stevenson Cutis Gyrata Syndrome

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

33
Skin, Bone, 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.7FGFR2, FGFR3, RAB23
2MP:00053718.6FGFR2, FGFR3, RAB23
3MP:00107718.5FGFR2, FGFR3, RAB23
4MP:00053918.2FGFR2, 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:

67
id Symbol AA change Variation ID SNP ID
1FGFR2p.Ser372CysVAR_017274
2FGFR2p.Tyr375CysVAR_017275

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)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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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 Suite gene sharing:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3FGFR2, FGFR3
2
Show member pathways
9.3FGFR2, FGFR3
3
Show member pathways
9.3FGFR2, FGFR3
49.3FGFR2, FGFR3
5
Show member pathways
9.3FGFR2, FGFR3
6
Show member pathways
9.3FGFR2, FGFR3
79.3FGFR2, FGFR3
89.3FGFR2, FGFR3
99.3FGFR2, FGFR3
109.3FGFR2, FGFR3
11
Angiogenesis (CST)
Show member pathways
9.3FGFR2, FGFR3
12
Show member pathways
9.3FGFR2, FGFR3
139.3FGFR2, FGFR3

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 15)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell developmentGO:00703079.9FGFR2, FGFR3
2negative regulation of mitotic nuclear divisionGO:00458399.9FGFR2, FGFR3
3positive regulation of MAPK cascadeGO:00434109.8FGFR2, FGFR3
4phosphatidylinositol-mediated signalingGO:00480159.8FGFR2, FGFR3
5positive regulation of phospholipase activityGO:00105189.7FGFR2, FGFR3
6positive regulation of canonical Wnt signaling pathwayGO:00902639.7FGFR2, FGFR3
7protein autophosphorylationGO:00467779.7FGFR2, FGFR3
8bone morphogenesisGO:00603499.7FGFR2, FGFR3
9regulation of smoothened signaling pathwayGO:00085899.6FGFR2, RAB23
10peptidyl-tyrosine phosphorylationGO:00181089.6FGFR2, FGFR3
11positive regulation of ERK1 and ERK2 cascadeGO:00703749.6FGFR2, FGFR3
12bone mineralizationGO:00302829.5FGFR2, FGFR3
13activation of MAPKK activityGO:00001869.5FGFR2, FGFR3
14Ras protein signal transductionGO:00072659.4FGFR2, FGFR3
15small GTPase mediated signal transductionGO:00072648.5FGFR2, FGFR3, RAB23

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:00050079.7FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.7FGFR2, FGFR3
3protein tyrosine kinase activityGO:00047139.3FGFR2, FGFR3

Sources for Beare-Stevenson Cutis Gyrata Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet