MCID: BRS002
MIFTS: 49

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

About this section

Aliases & Descriptions for Beare-Stevenson Cutis Gyrata Syndrome:

Name: Beare-Stevenson Cutis Gyrata Syndrome 50 11 69 46 24 13 52 68 12 48
Cutis Gyrata Syndrome of Beare and Stevenson 46 24 68 25 66
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome 46 52
Cutis Gyrata Syndrome of Beare-Stevenson 69 24
Beare-Stevenson Syndrome 23 68
 
Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis 46
Beare Stevenson Syndrome 46
Cutis Gyrata Syndrome 23
Bstvs 68

Characteristics:

Orphanet epidemiological data:

52
beare-stevenson cutis gyrata syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

62
beare-stevenson cutis gyrata syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 123790
Disease Ontology11 DOID:0050660
Orphanet52 ORPHA1555
ICD10 via Orphanet29 Q87.8
MedGen35 C1852406

Summaries for Beare-Stevenson Cutis Gyrata Syndrome

About this section
NIH Rare Diseases:46 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 MAPK Signaling: Mitogen Stimulation Pathway and Cytoskeleton remodeling_RalB regulation pathway. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are vision/eye and limbs/digits/tail.

Genetics Home Reference:24 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:68 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:50 123790

Related Diseases for Beare-Stevenson Cutis Gyrata Syndrome

About this section

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

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1cervicitis10.3
2chiari malformation10.3
3flnb-related disorders10.1FGFR2, FGFR3
4plasmalogens synthesis deficiency isolated10.1FGFR2, FGFR3
5trigonocephaly 110.0FGFR2, FGFR3
6mite infestation10.0FGFR2, FGFR3
7bladder cancer, somatic10.0FGFR2, FGFR3
8hypogonadotropic hypogonadism 2 with or without anosmia10.0FGFR2, FGFR3
9accommodative esotropia10.0FGFR2, FGFR3
10crouzon syndrome with acanthosis nigricans10.0FGFR2, FGFR3
11thanatophoric dysplasia, type i10.0FGFR2, FGFR3
12glaucomatocyclitic crisis10.0FGFR2, FGFR3
13craniosynostosis10.0
14synostosis10.0
15dysostosis10.0
16fgfr-related craniosynostosis syndromes10.0
17antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.0FGFR2, FGFR3
18scleredema adultorum10.0FGFR2, FGFR3
19beare-stevenson cutis gyrata syndrome9.9FGFR2, FGFR3
20thanatophoric dysplasia, type ii9.9FGFR2, FGFR3
21ischemic bone disease9.9FGFR2, FGFR3
22hypochondroplasia9.9FGFR2, FGFR3
23craniosynostosis, type 19.9FGFR2, FGFR3
24jackson-weiss syndrome9.8FGFR2, FGFR3
25serous conjunctivitis except viral9.8FGFR2, FGFR3
26crohn's disease9.7FGFR2, FGFR3
27mixed germ cell-sex cord neoplasm9.7FGFR2, FGFR3
28y-linked disease9.6FGFR2, FGFR3
29cervical cancer, somatic9.4FGFR2, FGFR3
30apert syndrome9.3FGFR2, FGFR3, RAB23
31central nervous system leukemia9.3FGFR2, FGFR3, RAB23
32hypertrophic cardiomyopathy9.3FGFR2, 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

About this section

Symptoms by clinical synopsis from OMIM:

123790

Clinical features from OMIM:

123790

Symptoms:

 52 (show all 44)
  • cryptorchidism
  • bifid scrotum
  • narrow mouth
  • cleft palate
  • narrow palate
  • hydrocephalus
  • turricephaly
  • dolichocephaly
  • abnormality of the face
  • malar flattening
  • hypertelorism
  • hearing abnormality
  • thickened helices
  • macrotia
  • choanal atresia
  • anteverted nares
  • abnormality of the eye
  • downslanted palpebral fissures
  • abnormality of vision
  • ptosis
  • proptosis
  • optic atrophy
  • hypertension
  • abnormality of the skull
  • acanthosis nigricans
  • palmoplantar keratoderma
  • melanocytic nevus
  • craniosynostosis
  • subcutaneous nodule
  • umbilical hernia
  • anteriorly placed anus
  • abnormality of the nail
  • abnormality of the pancreas
  • respiratory distress
  • cloverleaf skull
  • prominent scrotal raphe
  • preauricular skin furrow
  • depressed nasal bridge
  • palmoplantar cutis gyrata
  • reduced number of teeth
  • aplasia/hypoplasia of the earlobes
  • cheekbone underdevelopment
  • midface retrusion
  • visceral angiomatosis

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

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

UMLS symptoms related to Beare-Stevenson Cutis Gyrata Syndrome:


respiratory distress

Drugs & Therapeutics for Beare-Stevenson Cutis Gyrata Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Beare-Stevenson Cutis Gyrata Syndrome

Genetic Tests for Beare-Stevenson Cutis Gyrata Syndrome

About this section

Genetic tests related to Beare-Stevenson Cutis Gyrata Syndrome:

id Genetic test Affiliating Genes
1 Cutis Gyrata Syndrome of Beare and Stevenson25
2 Beare-Stevenson Syndrome23 FGFR2

Anatomical Context for Beare-Stevenson Cutis Gyrata Syndrome

About this section

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

34
Skin, Bone, Eye, Pancreas

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

About this section

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.7FGFR2, FGFR3, RAB23
2MP:00053718.6FGFR2, FGFR3, RAB23

Publications for Beare-Stevenson Cutis Gyrata Syndrome

About this section

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

About this section

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

68
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)single nucleotide variantPathogenicrs121913478GRCh37Chr 10, 123274794: 123274794
2FGFR2NM_000141.4(FGFR2): c.1115C> G (p.Ser372Cys)single nucleotide variantPathogenicrs121913477GRCh37Chr 10, 123274803: 123274803
3FGFR2NG_012449.2: g.83400_83462deldeletionPathogenic

Expression for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

About this section
Search GEO for disease gene expression data for Beare-Stevenson Cutis Gyrata Syndrome.

Pathways for genes affiliated with Beare-Stevenson Cutis Gyrata Syndrome

About this section

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

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3FGFR2, FGFR3
29.3FGFR2, FGFR3
3
Show member pathways
9.3FGFR2, FGFR3
4
Show member pathways
9.3FGFR2, FGFR3
5
Show member pathways
9.3FGFR2, FGFR3
69.3FGFR2, FGFR3
79.3FGFR2, FGFR3
89.3FGFR2, FGFR3
99.3FGFR2, FGFR3
10
Show member pathways
9.3FGFR2, FGFR3
119.3FGFR2, FGFR3
12
Show member pathways
9.3FGFR2, FGFR3
139.3FGFR2, FGFR3

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

About this section

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
6positive regulation of phospholipase activityGO:00105189.7FGFR2, FGFR3
7protein autophosphorylationGO:00467779.6FGFR2, FGFR3
8peptidyl-tyrosine phosphorylationGO:00181089.6FGFR2, FGFR3
9bone mineralizationGO:00302829.5FGFR2, FGFR3
10MAPK cascadeGO:00001659.4FGFR2, FGFR3
11positive regulation of MAPK cascadeGO:00434109.3FGFR2, FGFR3
12positive regulation of ERK1 and ERK2 cascadeGO:00703749.3FGFR2, FGFR3
13bone morphogenesisGO:00603499.0FGFR2, 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:00469349.6FGFR2, 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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet