BSTVS
MCID: BRS002
MIFTS: 47

Beare-Stevenson Cutis Gyrata Syndrome (BSTVS) 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 52 11 71 48 25 54 70 12 50 13
Cutis Gyrata Syndrome of Beare and Stevenson 48 25 70 27 68
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome 48 54
Cutis Gyrata Syndrome of Beare-Stevenson 71 25
Beare-Stevenson Syndrome 24 70
 
Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis 48
Beare Stevenson Syndrome 48
Cutis Gyrata Syndrome 24
Bstvs 70

Characteristics:

Orphanet epidemiological data:

54
beare-stevenson cutis gyrata syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
beare-stevenson cutis gyrata syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 123790
Disease Ontology11 DOID:0050660
Orphanet54 ORPHA1555
ICD10 via Orphanet31 Q87.8
MedGen37 C1852406

Summaries for Beare-Stevenson Cutis Gyrata Syndrome

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NIH Rare Diseases:48 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 respiratory distress, respiratory distress and Array. An important gene associated with Beare-Stevenson Cutis Gyrata Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways are Signaling by FGFR2 in disease and MAPK Signaling: Mitogen Stimulation Pathway. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are Decreased substrate adherent cell growth and Decreased shRNA abundance (Z-score < -2).

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:70 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:52 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 31)
idRelated DiseaseScoreTop Affiliating Genes
1cervicitis10.2
2chiari malformation10.2
3familial porphyria cutanea tarda10.0FGFR2, FGFR3
4hartsfield syndrome10.0FGFR2, FGFR3
5pointer syndrome10.0FGFR2, FGFR3
6cervical spinal canal and spinal cord meningioma10.0FGFR2, FGFR3
7osteoglophonic dysplasia10.0FGFR2, FGFR3
8aica-ribosiduria due to atic deficiency10.0FGFR2, FGFR3
9crouzon syndrome with acanthosis nigricans10.0FGFR2, FGFR3
10muenke syndrome10.0FGFR2, FGFR3
11lingual-facial-buccal dyskinesia10.0FGFR2, FGFR3
12sp7-related osteogenesis imperfecta10.0FGFR2, FGFR3
13leg dermatosis10.0FGFR2, FGFR3
14apert syndrome10.0FGFR2, FGFR3
15thanatophoric dysplasia, type i10.0FGFR2, FGFR3
16saddan10.0FGFR2, FGFR3
17robinow-sorauf syndrome10.0FGFR2, FGFR3
18bone structure disease10.0FGFR2, FGFR3
19hypoparathyroidism9.9FGFR2, FGFR3
20hypogonadotropic hypogonadism 2 with or without anosmia9.9FGFR2, FGFR3
21testicular cancer9.9FGFR2, FGFR3
22autosomal genetic disease9.9FGFR2, FGFR3
23craniosynostosis9.9
24synostosis9.9
25dysostosis9.9
26fgfr-related craniosynostosis syndromes9.9
27cutaneous leishmaniasis9.8FGFR2, FGFR3
28antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.7FGFR2, FGFR3, RAB23
29scaphocephaly, maxillary retrusion, and mental retardation9.7FGFR2, FGFR3, RAB23
30cervical cancer, somatic9.7FGFR2, FGFR3, RAB23
31atrophy of testis9.7FGFR2, 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 & Phenotypes 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:

 54 64 (show all 52)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Occasional (29-5%) HP:0000028
2 bifid scrotum64 54 Frequent (79-30%) HP:0000048
3 narrow mouth64 54 Occasional (29-5%) HP:0000160
4 cleft palate64 54 Occasional (29-5%) HP:0000175
5 narrow palate64 54 Frequent (79-30%) HP:0000189
6 hydrocephalus64 54 Occasional (29-5%) HP:0000238
7 turricephaly64 54 Very frequent (99-80%) HP:0000262
8 dolichocephaly64 54 Very frequent (99-80%) HP:0000268
9 abnormality of the face54 Very frequent (99-80%)
10 malar flattening64 54 Very frequent (99-80%) HP:0000272
11 hypertelorism64 54 Occasional (29-5%) HP:0000316
12 hearing abnormality64 54 Very frequent (99-80%) HP:0000364
13 thickened helices64 54 Occasional (29-5%) HP:0000391
14 macrotia64 54 Very frequent (99-80%) HP:0000400
15 choanal atresia64 54 Very frequent (99-80%) HP:0000453
16 anteverted nares64 54 Occasional (29-5%) HP:0000463
17 abnormality of the eye54 Occasional (29-5%)
18 downslanted palpebral fissures64 54 Very frequent (99-80%) HP:0000494
19 abnormality of vision64 54 Occasional (29-5%) HP:0000504
20 ptosis64 54 Very frequent (99-80%) HP:0000508
21 proptosis64 54 Very frequent (99-80%) HP:0000520
22 optic atrophy64 54 Occasional (29-5%) HP:0000648
23 hypertension64 54 Occasional (29-5%) HP:0000822
24 abnormality of the skull54 Very frequent (99-80%)
25 acanthosis nigricans64 54 Very frequent (99-80%) HP:0000956
26 palmoplantar keratoderma64 54 Very frequent (99-80%) HP:0000982
27 melanocytic nevus64 54 Very frequent (99-80%) HP:0000995
28 craniosynostosis64 54 Frequent (79-30%) HP:0001363
29 subcutaneous nodule64 54 Very frequent (99-80%) HP:0001482
30 umbilical hernia64 54 Occasional (29-5%) HP:0001537
31 anteriorly placed anus64 54 Occasional (29-5%) HP:0001545
32 abnormality of the nail64 54 Occasional (29-5%) HP:0001597
33 abnormality of the pancreas64 54 Very frequent (99-80%) HP:0001732
34 respiratory distress64 54 Very frequent (99-80%) HP:0002098
35 cloverleaf skull64 54 Very frequent (99-80%) HP:0002676
36 prominent scrotal raphe64 54 Frequent (79-30%) HP:0003246
37 preauricular skin furrow64 54 Very frequent (99-80%) HP:0004450
38 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
39 palmoplantar cutis gyrata64 54 Very frequent (99-80%) HP:0007469
40 reduced number of teeth64 54 Very frequent (99-80%) HP:0009804
41 aplasia/hypoplasia of the earlobes64 54 Very frequent (99-80%) HP:0009906
42 cheekbone underdevelopment54 Very frequent (99-80%)
43 midface retrusion64 54 Very frequent (99-80%) HP:0011800
44 visceral angiomatosis64 54 Very frequent (99-80%) HP:0100761
45 low-set, posteriorly rotated ears64 HP:0000368
46 choanal stenosis64 HP:0000452
47 global developmental delay64 HP:0001263
48 agenesis of corpus callosum64 HP:0001274
49 limited elbow extension64 HP:0001377
50 small nail64 HP:0001792
51 palmoplantar cutis laxa64 HP:0007517
52 hypoplasia of the zygomatic bone64 HP:0010669

UMLS symptoms related to Beare-Stevenson Cutis Gyrata Syndrome:


respiratory distress

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00193-A-310.1FGFR2, FGFR3
2GR00366-A-849.9FGFR3, RAB23

MGI Mouse Phenotypes related to Beare-Stevenson Cutis Gyrata Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2FGFR2, FGFR3, RAB23
2MP:00053918.5FGFR2, FGFR3, RAB23

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 Stevenson27
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:

36
Skin, Bone, Eye, Pancreas

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
Beare-Stevenson cutis gyrata syndrome with Chiari malformation. (12181710)
2002
5
Mutation in the FGFR2 gene in a Taiwanese patient with Beare- Stevenson cutis gyrata syndrome. (12000365)
2002
6
A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene. (12145519)
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:

70
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)SNVPathogenic/ Likely pathogenicrs121913478GRCh37Chr 10, 123274794: 123274794
2FGFR2NM_ 000141.4(FGFR2): c.1115C> G (p.Ser372Cys)SNVPathogenic/ Likely pathogenicrs121913477GRCh37Chr 10, 123274803: 123274803
3FGFR2NG_ 012449.2: g.83400_ 83462deldeletionPathogenic

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:00314108.5FGFR2, FGFR3, RAB23

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1bone mineralizationGO:003028210.0FGFR2, FGFR3
2bone morphogenesisGO:006034910.0FGFR2, FGFR3
3endochondral bone growthGO:000341610.0FGFR2, FGFR3
4fibroblast growth factor receptor signaling pathwayGO:000854310.0FGFR2, FGFR3
5peptidyl-tyrosine phosphorylationGO:001810810.0FGFR2, FGFR3
6phosphatidylinositol phosphorylationGO:004685410.0FGFR2, FGFR3
7phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.0FGFR2, FGFR3
8phosphatidylinositol-mediated signalingGO:004801510.0FGFR2, FGFR3
9positive regulation of ERK1 and ERK2 cascadeGO:007037410.0FGFR2, FGFR3
10positive regulation of MAPK cascadeGO:00434109.9FGFR2, FGFR3
11positive regulation of phospholipase activityGO:00105189.9FGFR2, FGFR3
12protein autophosphorylationGO:00467779.8FGFR2, FGFR3
13regulation of phosphatidylinositol 3-kinase signalingGO:00140669.3FGFR2, FGFR3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:001630310.0FGFR2, FGFR3
2fibroblast growth factor bindingGO:001713410.0FGFR2, FGFR3
3fibroblast growth factor-activated receptor activityGO:000500710.0FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.0FGFR2, FGFR3
5protein tyrosine kinase activityGO:00047139.9FGFR2, FGFR3
6Ras guanyl-nucleotide exchange factor activityGO:00050889.8FGFR2, FGFR3
7transmembrane receptor protein tyrosine kinase activityGO:00047149.3FGFR2, FGFR3
8nucleotide bindingGO:00001669.1FGFR2, FGFR3, RAB23

Sources for Beare-Stevenson Cutis Gyrata Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet